[ { "uniprot_canonical_ac": "Q9BQ95-1", "uniprot_id": [ { "id": "ECSIT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ95", "type": "external" } ], "mass": 49148.0, "length": 431, "protein_name": "Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial", "gene_name": "ECSIT", "organism": "Human", "refseq_name": "evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001135936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135936", "type": "external" } ], "gene_names_uniprotkb": "ECSIT", "gene_names_refseq": "ECSIT; SITPEC", "protein_names_uniprotkb": "Evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial; Protein SITPEC", "protein_names_refseq": "ECSIT homolog; ECSIT signalling integrator; evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform 2 precursor; evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial; likely ortholog of mouse signaling intermediate in Toll pathway evolutionarily conserved", "tax_id": 9606, "disease": "", "pathway": " (hsa:51295); (R-HSA-166058); (R-HSA-6799198); (R-HSA-975138); (R-HSA-975871)", "pathway_count": 5, "publication_count": 83, "publication_id_list": "10465784;11220739;11237011;11544529;11960013;12138165;12140561;12297423;12447441;12447442;12724322;14625308;15585605;15944945;16024789;16439361;16751103;17141195;17344420;17485511;17726518;17878161;17890055;17936786;18070880;18070982;18438411;18829464;19224918;19498957;19509286;19592493;19592497;19752196;20406883;20485341;20552642;20816094;20858599;20966070;21525932;21606490;21924235;22454496;22588174;23553477;24191001;24840642;25228397;25355951;25678554;27499296;27626371;28904123;29242379;29393594;29632046;30315122;31154438;31281713;31620128;31666358;31844290;31866046;32320651;32387766;32938616;33141586;33879611;33882309;33912179;33936100;33968037;35333655;35614220;37409430;38199007;38326554;40914422;8837778;9008162;9430229;9571201", "class_list": "", "function": "Adapter protein that plays a role in different signaling pathways including TLRs and IL-1 pathways or innate antiviral induction signaling. Plays a role in the activation of NF-kappa-B by forming a signal complex with TRAF6 and TAK1/MAP3K7 to activate TAK1/MAP3K7 leading to activation of IKKs. Once ubiquitinated, interacts with the dissociated RELA and NFKB1 proteins and translocates to the nucleus where it induces NF-kappa-B-dependent gene expression. Plays a role in innate antiviral immune response by bridging the pattern recognition receptors RIGI and MDA5/IFIT1 to the MAVS complex at the mitochondrion. Promotes proteolytic activation of MAP3K1. Involved in the BMP signaling pathway. Required for normal embryonic development., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; As part of the MCIA complex, involved in the assembly of the mitochondrial complex I., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; ECSIT Is a Critical Factor for Controlling Intestinal Homeostasis and Tumorigenesis through Regulating the Translation of YAP Protein., [RefSeq, PubMed]; ECSIT facilitates memory CD8[+] T cell development by mediating fumarate synthesis during viral infection and tumorigenesis., [RefSeq, PubMed]; Study shows a mitochondrial function for Ecsit in the assembly of mitochondrial complex I, an N-terminal targeting signal directs Ecsit to mitochondria, where it interacts with assembly chaperone NDUFAF1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PAN9;K7EMM0;Q96HQ7;Q9NYI1", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0004857 enzyme inhibitor activity;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0045087 innate immune response;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0007178 cell surface receptor protein serine/threonine kinase signaling pathway;GO:0034142 toll-like receptor 4 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9BQ95-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0K3-1", "uniprot_id": [ { "id": "ARP3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0K3", "type": "external" } ], "mass": 23712.0, "length": 210, "protein_name": "Actin-related protein 3C", "gene_name": "ACTR3C", "organism": "Human", "refseq_name": "actin-related protein 3C isoform a precursor", "refseq_ac": [ { "id": "NP_001157930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157930", "type": "external" } ], "gene_names_uniprotkb": "ACTR3C; ARP11", "gene_names_refseq": "ACTR3C; ARP11", "protein_names_uniprotkb": "Actin-related protein 3C; Actin-related protein 11", "protein_names_refseq": "ARP3 actin related protein 3 homolog C; actin-related Arp11; actin-related protein 11; actin-related protein 3C isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:653857)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11162478;11237011;15104674;22645359;26154972;31217245;31844290;32350084;32502341;35251023;36580660;38253038", "class_list": "", "function": "May play a role in the suppression of metastatic potential in lung adenoma carcinoma cells., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5CZI4", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9C0K3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16531-1", "uniprot_id": [ { "id": "DDB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16531", "type": "external" } ], "mass": 126968.0, "length": 1140, "protein_name": "DNA damage-binding protein 1", "gene_name": "DDB1", "organism": "Human", "refseq_name": "DNA damage-binding protein 1", "refseq_ac": [ { "id": "NP_001914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001914", "type": "external" } ], "gene_names_uniprotkb": "DDB1; XAP1", "gene_names_refseq": "DDB1; DDBA; UV-DDB1; WHIKERS; XAP1; XPCE; XPE-BF; XPE", "protein_names_uniprotkb": "DNA damage-binding protein 1; DDB p127 subunit; DDBa; DNA damage-binding protein a; Damage-specific DNA-binding protein 1; HBV X-associated protein 1; UV-DDB 1; UV-damaged DNA-binding factor; UV-damaged DNA-binding protein 1; XAP-1; XPCe; XPE-BF; XPE-binding factor; Xeroderma pigmentosum group E-complementing protein", "protein_names_refseq": "DDB p127 subunit; DNA damage-binding protein 1; DNA damage-binding protein a; HBV X-associated protein 1; UV-DDB 1; UV-damaged DNA-binding factor; UV-damaged DNA-binding protein 1; XAP-1; XPE-binding factor; damage-specific DNA binding protein 1, 127kDa; xeroderma pigmentosum group E-complementing protein", "tax_id": 9606, "disease": "xeroderma pigmentosum (Disease Ontology:DOID:0050427); McCune Albright syndrome (Disease Ontology:DOID:1858); communication disorder (Disease Ontology:DOID:2033); White-Kernohan syndrome (MONDO:MONDO:0859169)", "pathway": " (hsa:1642); (R-HSA-110314); (R-HSA-5696394); (R-HSA-5696395); (R-HSA-5696400); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-8951664)", "pathway_count": 10, "publication_count": 381, "publication_id_list": "10391953;10526214;10535940;10597293;10734143;10777491;10811609;10878807;10944529;10973499;11007478;11069780;11141066;11237011;11259415;11278856;11279143;11292861;11292862;11454738;11511374;11531405;11585840;11673459;11733065;11904382;11961546;12080057;12101228;12186903;12208738;12226657;12504025;12504026;12526791;12538644;12609982;12660172;12682069;12732143;12743284;12759363;12815074;12816948;12944386;14517266;14690597;14739464;14742321;14757770;15220921;15282312;15361859;15367669;15448697;15537541;15572695;15574592;15590680;15601839;15652483;15688063;15694336;15799966;15811629;15882621;15916957;15964821;16030353;16171779;16223728;16227264;16246722;16260596;16401342;16407242;16407252;16413485;16473935;16482215;16491090;16527807;16531995;16547496;16647857;16678110;16707496;16751180;16790436;16940174;16943200;16949367;16964240;17000769;17041588;17079684;17081101;17132228;17183367;17220875;17290000;17332328;17466625;17466626;17497243;17720710;17785452;17882165;17932509;17948053;17981804;18079701;18093314;18206966;18332868;18342608;18381890;18593899;18606781;18614043;18775313;18776931;18805092;18826954;18851830;18926707;19056823;19109893;19250909;19279666;19287380;19321346;19608861;19609301;19617556;19661379;19713942;19748355;19940136;19941824;19966799;20068231;20129063;20227374;20368362;20541997;20855601;20876134;21070792;21135142;21282463;21388382;21447816;21463634;21468892;21778237;21863050;21940857;22081108;22118460;22306028;22424782;22466610;22466611;22466612;22466964;22537386;22544926;22822215;22902626;22935713;22959436;23000965;23038248;23045548;23201271;23301498;23319653;23333871;23352696;23401859;23453757;23478445;23535662;23535663;23563313;23583660;23751493;23906714;23912815;23973375;23986495;24076655;24127601;24366543;24366607;24402227;24636985;24714562;24715725;24768535;24793695;24793696;25043012;25108355;25154395;25314029;25349211;25355947;25435140;25502872;25531226;25538220;25576301;25645385;25810538;25880248;25970626;26042670;26151477;26154972;26344709;26431207;26460955;26632597;26758079;26768311;26811146;26906416;26992070;27030794;27222660;27397612;27543614;27565346;27600516;27846572;27862975;27920218;28063628;28087699;28115426;28218747;28228285;28437394;28446606;28467828;28514659;28649982;28790135;28832583;28834231;28855257;28886238;28904123;29153394;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30484775;30524438;30564455;30573663;30610225;30779550;30833945;31092671;31217245;31222486;31492966;31530632;31686031;31693891;31693911;31819272;31844290;31848261;31937595;31998317;32005965;32075763;32119511;32157095;32161166;32284348;32350084;32355176;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33329543;33392160;33444648;33465208;33537174;33592498;33633747;33691108;33717175;33743206;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34526721;34561969;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35318648;35561310;35580925;35938868;36010968;36215666;36241641;36284347;36581221;37043057;37938771;38316879;38665916;38934719;40596516;41331036;7559382;7700386;7815490;8078911;8168482;8530102;8538642;8692841;8876179;9130708;9326587;9632823;9699634;9716411;9771713;9790970;9875289;9887101;9891082", "class_list": "", "function": "Component of complexes involved in DNA repair and protein ubiquitination. May play a role in the regulation of the circadian clock., [UniProtKB, UniProtKB, UniProtKB]; DDB1 regulates the activation-induced apoptosis of T cells via downregulating the expression of histone methyltransferase SETD7. Publication Status: Online-Only, [RefSeq, PubMed]; Hepatocyte-specific loss of DDB1 attenuates hepatic steatosis but aggravates liver inflammation and fibrosis in MASH. Publication Status: Online-Only, [RefSeq, PubMed]; Insight into Viral Hijacking of CRL4 Ubiquitin Ligase through Structural Analysis of the pUL145-DDB1 Complex., [RefSeq, PubMed]; Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:14739464, PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16407252, PubMed:16482215, PubMed:16940174, PubMed:17079684, PubMed:25970626). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:15448697, PubMed:16260596, PubMed:16407242, PubMed:16940174). Also functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460, PubMed:25043012, PubMed:25108355, PubMed:28886238). The functional specificity of the DCX E3 ubiquitin-protein ligase complex is determined by the variable substrate recognition component recruited by DDB1 (PubMed:14739464, PubMed:16407252, PubMed:16482215, PubMed:17079684, PubMed:18332868, PubMed:18381890, PubMed:19966799, PubMed:22118460, PubMed:25043012, PubMed:25108355). DCX(DDB2) (also known as DDB1-CUL4-ROC1, CUL4-DDB-ROC1 and CUL4-DDB-RBX1) may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16473935, PubMed:16678110, PubMed:17041588, PubMed:18593899). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16473935, PubMed:16678110, PubMed:17041588, PubMed:18593899). DCX(DDB2) also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of TP53 in response to radiation-induced DNA damage and during DNA replication (PubMed:17041588). DCX(ERCC8) (the CSA complex) plays a role in transcription-coupled repair (TCR) (PubMed:12732143, PubMed:32355176, PubMed:38316879). The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1 (PubMed:26431207). DDB1-mediated CRY1 degradation promotes FOXO1 protein stability and FOXO1-mediated gluconeogenesis in the liver (By similarity). By acting on TET dioxygenses, essential for oocyte maintenance at the primordial follicle stage, hence essential for female fertility (By similarity). Maternal factor required for proper zygotic genome activation and genome reprogramming (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NG77;B2R648;B4DG00;O15176;Q13289;Q58F96", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0003684 damaged DNA binding;GO:0044877 protein-containing complex binding;GO:0097602 cullin family protein binding", "go_cellular_component": "GO:0031464 Cul4A-RING E3 ubiquitin ligase complex;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0051702 biological process involved in interaction with symbiont;GO:0046726 positive regulation by virus of viral protein levels in host cell;GO:0006281 DNA repair;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 38.7, "record_id": "Q16531-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60660-1", "uniprot_id": [ { "id": "MYL6_HUMAN", "url": "https://www.uniprot.org/uniprot/P60660", "type": "external" } ], "mass": 16930.0, "length": 151, "protein_name": "Myosin light polypeptide 6", "gene_name": "MYL6", "organism": "Human", "refseq_name": "myosin light polypeptide 6 isoform 1", "refseq_ac": [ { "id": "NP_066299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066299", "type": "external" } ], "gene_names_uniprotkb": "MYL6", "gene_names_refseq": "ESMLC; LC17-GI; LC17-NM; LC17A; LC17B; LC17; MLC-3; MLC1SM; MLC3NM; MLC3SM; MYL6", "protein_names_uniprotkb": "Myosin light polypeptide 6; 17 kDa myosin light chain; LC17; MLC-3; Myosin light chain 3; Myosin light chain A3; Myosin light chain alkali 3; Smooth muscle and nonmuscle myosin light chain alkali 6", "protein_names_refseq": "17 kDa myosin light chain; myosin light chain A3; myosin light chain alkali 3; myosin light polypeptide 6 isoform 1; myosin, light chain 6, alkali, smooth muscle and non-muscle; myosin, light polypeptide 6, alkali, smooth muscle and non-muscle", "tax_id": 9606, "disease": "", "pathway": " (hsa:4637); (R-HSA-3928663); (R-HSA-416572); (R-HSA-445355); (R-HSA-5625740); (R-HSA-5625900); (R-HSA-5627117); (R-HSA-5627123)", "pathway_count": 8, "publication_count": 235, "publication_id_list": "10.1101/2023.09.13.557529;10047984;10092231;10330186;10470034;10619026;10639334;10652353;10748018;10753910;10769020;10924361;10975528;10991994;11018042;11134534;11179879;11237011;11242081;11278486;11313932;11331307;11436981;11457814;11532985;11804587;11889009;11942626;12048254;12185584;12196628;12198493;12220504;12453877;12730235;12783890;12802051;14506282;14514689;14580336;14627618;14654843;15000491;15003508;15184667;15210733;15377279;15378014;15592455;156362;15791647;15848799;16202622;16204230;16219803;16431929;16854367;17055381;17074750;17151359;17301291;18006505;18025083;18083107;18669648;18829550;18974361;18991276;19289088;1930128;19380584;19513348;19608861;19723632;20068231;20444238;21098037;21351730;21749319;21872626;21993680;22223895;22293177;22421042;22424782;22544926;22706990;22778174;22898188;2304459;23161543;23186163;23301498;23444367;23481700;23716662;23834404;24029068;24128008;24166499;24275569;24366607;24714562;24859002;24872348;2526655;25502872;25505266;25576301;25645385;25802875;26154972;26362469;26375851;26728094;26758079;26992070;27090790;2722814;27452731;27543614;27600516;2764880;27679490;27846572;27862975;27920218;28218747;28228285;28510447;28514659;28741090;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;2966156;29786170;29789417;29930882;30315122;30410026;30429286;30484775;30524438;30779550;3079756;30833945;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34561969;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37217939;3780718;37938771;3839510;38665916;7559638;8107774;8188229;8543060;8662509;8702756;8858389;9278512;9354661;9481611;9535855;9598563;9600334;9683637;9792683;9855623;9870942;9870943;9889122;9988689", "class_list": "", "function": "Myosin is a hexameric ATPase cellular motor protein. It is composed of two heavy chains, two nonphosphorylatable alkali light chains, and two phosphorylatable regulatory light chains. This gene encodes a myosin alkali light chain that is expressed in smooth muscle and non-muscle tissues. Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Regulatory light chain of myosin. Does not bind calcium., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P16475;P24572;P24573;Q12790;Q561V9;Q6IAZ0;Q6IPY5", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0008307 structural constituent of muscle;GO:0003774 cytoskeletal motor activity;GO:0000146 microfilament motor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005903 brush border;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0031982 vesicle", "go_biological_process": "GO:0006936 muscle contraction;GO:0030049 muscle filament sliding;GO:0007519 skeletal muscle tissue development", "synthesized_glycan_count": 0, "hit_score": 24.2, "record_id": "P60660-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXI3-1", "uniprot_id": [ { "id": "ASB10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXI3", "type": "external" } ], "mass": 50894.0, "length": 467, "protein_name": "Ankyrin repeat and SOCS box protein 10", "gene_name": "ASB10", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 10 isoform 1", "refseq_ac": [ { "id": "NP_001135931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135931", "type": "external" } ], "gene_names_uniprotkb": "ASB10", "gene_names_refseq": "ASB10; GLC1F", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 10; ASB-10", "protein_names_refseq": "ankyrin repeat and SOCS box protein 10 isoform 1; ankyrin repeat and SOCS box protein 10", "tax_id": 9606, "disease": "open-angle glaucoma (Disease Ontology:DOID:1067)", "pathway": " (hsa:136371); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20309402;21447816;21463634;21778237;21863050;21940857;22156576;22306028;22466964;22537386;2261476;22798626;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23901248;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26713451;26906416;27030794;27222660;27565346;28115426;29153394;30315122;30379171;30610225;31522561;32005965;32284348;32387766;33444648;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "ASB10 may play a role in ubiquitin-mediated degradation pathways in tabecular meshwork cells. Publication Status: Online-Only, [RefSeq, PubMed]; Lack of Correlation between ASB10 and Normal-tension Glaucoma in a Population from the Republic of Korea., [RefSeq, PubMed]; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB]; Non-synonymous mutations in ASB10 do not cause Mendelian forms of primary open angle glaucoma, [RefSeq, PubMed]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2008]., [RefSeq]; These findings suggested that the genes in the GLC1F locus may be associated with the pathogenesis of normal tension glaucoma. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Variants in ASB10 are associated with open-angle glaucoma., [RefSeq, PubMed]; Variants in ASB10 were found to be significantly associated with sporadic POAG in the Pakistani population Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVH0;Q6ZUL6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q8WXI3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13200-1", "uniprot_id": [ { "id": "PSMD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13200", "type": "external" } ], "mass": 100200.0, "length": 908, "protein_name": "26S proteasome non-ATPase regulatory subunit 2", "gene_name": "PSMD2", "organism": "Human", "refseq_name": "26S proteasome non-ATPase regulatory subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001265637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265637", "type": "external" } ], "gene_names_uniprotkb": "PSMD2; TRAP2", "gene_names_refseq": "P97; PSMD2; RPN1; S2; TRAP2", "protein_names_uniprotkb": "26S proteasome non-ATPase regulatory subunit 2; 26S proteasome regulatory subunit RPN1; 26S proteasome regulatory subunit S2; 26S proteasome subunit p97; Protein 55.11; Tumor necrosis factor type 1 receptor-associated protein 2", "protein_names_refseq": "26S proteasome non-ATPase regulatory subunit 2 isoform 2; 26S proteasome non-ATPase regulatory subunit 2; 55.11 protein; TNFR-associated protein 2; proteasome (prosome, macropain) 26S subunit, non-ATPase, 2; proteasome 26S subunit, non-ATPase 2; protein 55.11; tumor necrosis factor type 1 receptor-associated protein 2", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:5708); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-6798695); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1109, "publication_id_list": 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"class_list": "", "function": "Binds to the intracellular domain of tumor necrosis factor type 1 receptor. The binding domain of TRAP1 and TRAP2 resides outside the death domain of TNFR1., [UniProtKB]; Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair., [UniProtKB, PubMed, UniProtKB, UniProtKB]; DNAJA4 suppresses epithelial-mesenchymal transition and metastasis in nasopharyngeal carcinoma via PSMD2-mediated MYH9 degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Proteasomal Degradation of TRAF2 Mediates Mitochondrial Dysfunction in Doxorubicin-Cardiomyopathy. Erratum:[Circulation. 2022 Oct 11;146(15):e224. doi: 10.1161/CIR.0000000000001108. PMID: 36214137], [RefSeq, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DX07;B4DXY1;E7EW34;E9PCS3;Q12932;Q15321;Q53XQ4;Q96I12", "ec_number_list": [], "go_molecular_function": "GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0005576 extracellular region;GO:0005634 nucleus", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0061136 regulation of proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 111.3, "record_id": "Q13200-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07307-1", "uniprot_id": [ { "id": "ASGR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P07307", "type": "external" } ], "mass": 35092.0, "length": 311, "protein_name": "Asialoglycoprotein receptor 2", "gene_name": "ASGR2", "organism": "Human", "refseq_name": "asialoglycoprotein receptor 2 isoform a", "refseq_ac": [ { "id": "NP_001172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001172", "type": "external" } ], "gene_names_uniprotkb": "ASGR2; CLEC4H2", "gene_names_refseq": "ASGP-R2; ASGPR2; ASGR2; CLEC4H2; HBXBP; HL-2", "protein_names_uniprotkb": "Asialoglycoprotein receptor 2; ASGP-R 2; ASGPR 2; C-type lectin domain family 4 member H2; HL-2; Hepatic lectin H2", "protein_names_refseq": "C-type lectin domain family 4 member H2; HBxAg-binding protein; asialoglycoprotein receptor 2 isoform a; hepatic lectin H2", "tax_id": 9606, "disease": "", "pathway": " (hsa:433); (R-HSA-446203)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11237011;11470266;11543633;11943787;12089159;12171918;12678917;1371982;14514716;14688233;15489334;16317064;16335952;16625196;19159218;1924301;19835842;20798515;23090970;24112972;24275569;26154972;27155063;28063265;2834401;29391424;29557506;29784667;31154438;35580925;36215666;37074911;3863106;41105922;6156677;7072193", "class_list": "glycogene", "function": "Although gastric cancer cell-invasive activity was significantly decreased by knockdown, forced expression of ASGR2 promoted invasive activity., [RefSeq, PubMed]; Mediates the endocytosis of plasma glycoproteins to which the terminal sialic acid residue on their complex carbohydrate moieties has been removed. The receptor recognizes terminal galactose and N-acetylgalactosamine units. After ligand binding to the receptor, the resulting complex is internalized and transported to a sorting organelle, where receptor and ligand are disassociated. The receptor then returns to the cell membrane surface., [UniProtKB]; PEGylated lipoplexes were well tolerated by both HEK293 (ASGP-R-negative) and HepG2 (ASGP-R-positive) cell lines and delivered DNA to the hepatoma cell line HepG2 by ASGP-R mediation at levels three-fold greater than nonPEGylated lipoplexes., [RefSeq, PubMed]; The minor subunit splice variants, H2b and H2c, of the human asialoglycoprotein receptor are present with the major subunit H1 in different hetero-oligomeric receptor complexes, [RefSeq, PubMed]; This gene encodes a subunit of the asialoglycoprotein receptor. This receptor is a transmembrane protein that plays a critical role in serum glycoprotein homeostasis by mediating the endocytosis and lysosomal degradation of glycoproteins with exposed terminal galactose or N-acetylgalactosamine residues. The asialoglycoprotein receptor may facilitate hepatic infection by multiple viruses including hepatitis B, and is also a target for liver-specific drug delivery. The asialoglycoprotein receptor is a hetero-oligomeric protein composed of major and minor subunits, which are encoded by different genes. The protein encoded by this gene is the less abundant minor subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 404, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NLV8;A8MT12;D3DTM9;D3DTN0;O00448;Q03969", "ec_number_list": [], "go_molecular_function": "GO:0005537 D-mannose binding;GO:0042806 fucose binding;GO:0004873 asialoglycoprotein receptor activity;GO:0038187 pattern recognition receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0009897 external side of plasma membrane;GO:0044322 endoplasmic reticulum quality control compartment", "go_biological_process": "GO:0006897 endocytosis;GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P07307-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17676-1", "uniprot_id": [ { "id": "CEBPB_HUMAN", "url": "https://www.uniprot.org/uniprot/P17676", "type": "external" } ], "mass": 36106.0, "length": 345, "protein_name": "CCAAT/enhancer-binding protein beta", "gene_name": "CEBPB", "organism": "Human", "refseq_name": "CCAAT/enhancer-binding protein beta isoform b", "refseq_ac": [ { "id": "NP_001272807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272807", "type": "external" } ], "gene_names_uniprotkb": "CEBPB; PP9092; TCF5", "gene_names_refseq": "C/EBP-beta; CEBPB; IL6DBP; NF-IL6; TCF5", "protein_names_uniprotkb": "CCAAT/enhancer-binding protein beta; C/EBP beta; LAP; LIP; Liver activator protein; Liver-enriched inhibitory protein; Nuclear factor NF-IL6; TCF-5; Transcription factor 5", "protein_names_refseq": "CCAAT/enhancer binding protein (C/EBP), beta; CCAAT/enhancer-binding protein beta isoform b; interleukin 6-dependent DNA-binding protein; nuclear factor NF-IL6; nuclear factor of interleukin 6; transcription factor 5; transcription factor C/EBP beta", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); osteochondrodysplasia (Disease Ontology:DOID:2256); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); viral infectious disease (Disease Ontology:DOID:934)", "pathway": " (hsa:1051); (R-HSA-2559582); (R-HSA-380994); (R-HSA-381340); (R-HSA-8853884); (R-HSA-9616222); (R-HSA-9633012); (R-HSA-9648895); (R-HSA-9725371)", "pathway_count": 9, "publication_count": 258, "publication_id_list": "10075656;10201372;10233885;10318916;10330422;10425206;10432220;10548110;10635333;10921906;10958673;10982836;11018027;11095972;11114305;11163539;11169414;11241327;11242107;11257229;11340163;11340171;11369759;11452034;11564866;11677247;11684016;11684017;11691921;11726507;11741938;11751994;11792321;11867521;11872672;12048245;12213831;12242300;12702500;12748172;12810706;12829629;12832467;12869508;1314426;1400365;14517214;14630918;14679213;14742429;15273253;15314150;15385533;15498874;15774718;15775988;15781252;15850785;15919796;16009132;16009338;16026328;16380219;16453302;16624284;16626623;16687408;16751774;16912112;16931790;16989641;17011499;17063141;17110082;17111047;17140605;17267404;1741402;17416736;17467953;17540774;17562868;17601773;17690253;17726049;17922009;17980149;18024471;18052938;18055463;18097461;18267069;18285520;18411265;18555777;18555778;18647749;18776924;18840095;18931025;19043829;19115207;19172745;19327116;1934061;19413330;19563810;19723873;19805069;20015877;20022965;20028861;20101261;20111005;20351173;20361218;20423929;20452968;20493732;20661648;20818427;20829347;2112087;21325273;21344389;21471526;21670496;21715655;2183031;21979375;21993314;22178396;22369944;22371011;22374303;22474248;22634325;22802018;22819556;22955283;22978410;23001182;23239344;23269699;23846687;23876217;2405250;24060861;24086653;24277696;24379003;24584857;24706756;24715725;25218447;2524830;25402211;25451943;25576301;25645385;25755297;25772364;25784653;25818168;25931127;2663993;2664463;26992070;2721961;27526673;27553022;27600516;27846572;27923061;28514659;28646679;28814160;28832583;28834231;28904123;29093164;29242379;29393594;29413899;29431622;29508533;29557506;29588546;29786170;29789417;30100348;30315122;30429286;30484775;30692217;30779550;30804176;30833945;31154438;31366041;31390744;31434245;31844290;31848261;31937595;32157095;32161166;32387766;32488085;32502341;3260265;32938616;32983136;33123756;33214551;33298915;33392160;33592498;33968037;33981976;34087483;34171305;34185709;34405274;34509645;35051231;35318648;35580925;36215666;36241641;36284347;38665916;7635140;7862113;8234276;8325954;8336711;8384717;8413215;8413306;8617720;8643605;8688489;8695841;8706692;8770873;8846917;8884985;8939459;8970730;9065481;9153226;9177240;9211906;9374525;9454824;9836620;9930702", "class_list": "", "function": "Acts as a dominant negative through heterodimerization with isoform 2 (PubMed:11741938). Promotes osteoblast differentiation and osteoclastogenesis (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; C/EBP-beta target genes in monocytic cells are summarized and resulting functions are described, including regulation of proliferation and differentiation as well as orchestration of processes of mainly the innate immune response. [review] Review article, [RefSeq, PubMed]; Demonstration of alternative translation initiation in mouse, [RefSeq, PubMed]; Essential for gene expression induction in activated macrophages. Plays a major role in immune responses such as CD4(+) T-cell response, granuloma formation and endotoxin shock. Not essential for intracellular bacteria killing., [UniProtKB, UniProtKB]; Important transcription factor regulating the expression of genes involved in immune and inflammatory responses (PubMed:12048245, PubMed:1741402, PubMed:18647749, PubMed:9374525). Also plays a significant role in adipogenesis, as well as in the gluconeogenic pathway, liver regeneration, and hematopoiesis. The consensus recognition site is 5'-T[TG]NNGNAA[TG]-3'. Its functional capacity is governed by protein interactions and post-translational protein modifications. During early embryogenesis, plays essential and redundant roles with CEBPA. Has a promitotic effect on many cell types such as hepatocytes and adipocytes but has an antiproliferative effect on T-cells by repressing MYC expression, facilitating differentiation along the T-helper 2 lineage. Binds to regulatory regions of several acute-phase and cytokines genes and plays a role in the regulation of acute-phase reaction and inflammation. Also plays a role in intracellular bacteria killing (By similarity). During adipogenesis, is rapidly expressed and, after activation by phosphorylation, induces CEBPA and PPARG, which turn on the series of adipocyte genes that give rise to the adipocyte phenotype. The delayed transactivation of the CEBPA and PPARG genes by CEBPB appears necessary to allow mitotic clonal expansion and thereby progression of terminal differentiation (PubMed:20829347). Essential for female reproduction because of a critical role in ovarian follicle development (By similarity). Restricts osteoclastogenesis: together with NFE2L1; represses expression of DSPP during odontoblast differentiation (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mutational studies of mouse ortholog demonstrating alternative translational initiation, [RefSeq, PubMed]; Mutational studies of the rat and chick orthologs demonstrating alternative translational initiation, [RefSeq, PubMed]; This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain. The encoded protein functions as a homodimer but can also form heterodimers with CCAAT/enhancer-binding proteins alpha, delta, and gamma. Activity of this protein is important in the regulation of genes involved in immune and inflammatory responses, among other processes. The use of alternative in-frame AUG start codons results in multiple protein isoforms, each with distinct biological functions. [provided by RefSeq, Oct 2013]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K671;Q96IH2;Q9H4Z5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0035259 nuclear glucocorticoid receptor binding", "go_cellular_component": "GO:0036488 CHOP-C/EBP complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016363 nuclear matrix", "go_biological_process": "GO:0002432 granuloma formation;GO:0035711 T-helper 1 cell activation;GO:0072574 hepatocyte proliferation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 26.1, "record_id": "P17676-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GG9-1", "uniprot_id": [ { "id": "DCNL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GG9", "type": "external" } ], "mass": 30124.0, "length": 259, "protein_name": "DCN1-like protein 1", "gene_name": "DCUN1D1", "organism": "Human", "refseq_name": "DCN1-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001295030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295030", "type": "external" } ], "gene_names_uniprotkb": "DCUN1D1; DCN1; DCUN1L1; RP42; SCCRO", "gene_names_refseq": "DCNL1; DCUN1D1; DCUN1L1; RP42; SCCRO; SCRO; Tes3", "protein_names_uniprotkb": "DCN1-like protein 1; DCNL1; DCUN1 domain-containing protein 1; Defective in cullin neddylation protein 1-like protein 1; Squamous cell carcinoma-related oncogene", "protein_names_refseq": "DCN1, defective in cullin neddylation 1, domain containing 1; DCN1-like protein 1 isoform 2; DCN1-like protein 1; DCUN1 domain-containing protein 1; RP42 homolog; defective in cullin neddylation protein 1-like protein 1; squamous cell carcinoma-related oncogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:54165); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10535940;10597293;10777668;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12796399;12816948;14690597;14757770;15123463;15282312;15361859;15367669;15511464;15537541;15572695;15574592;15601839;15623817;15652483;15657565;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17018598;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18077418;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21209280;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25645385;26154972;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27920218;28115426;28228285;28510447;28581483;28832583;28904123;29153394;29393594;29632046;30524438;30587576;30610225;31844290;31848261;31937595;32005965;32157095;32284348;32350084;32387766;32488085;32938616;33444648;33862557;33968037;33981976;34019948;34087483;34509645;35051231;36010968;36215666;37522575;37566052;9790970;9887101;9891082", "class_list": "", "function": "Circ-DTL sponges miR-758-3p to accelerate cervical cancer malignant progression by regulating DCUN1D1 expression., [RefSeq, PubMed]; DCUN1D1 Is an Essential Regulator of Prostate Cancer Proliferation and Tumour Growth That Acts through Neddylation of Cullin 1, 3, 4A and 5 and Deregulation of Wnt/Catenin Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Evidence for frequent concurrent DCUN1D1, FGFR1, BCL9 gene copy number amplification in squamous cell lung cancer., [RefSeq, PubMed]; Part of an E3 ubiquitin ligase complex for neddylation (PubMed:18826954). Promotes neddylation of cullin components of E3 cullin-RING ubiquitin ligase complexes (PubMed:19617556, PubMed:23201271, PubMed:23401859, PubMed:26906416). Acts by binding to cullin-RBX1 complexes in the cytoplasm and promoting their nuclear translocation, enhancing recruitment of E2-NEDD8 (UBE2M-NEDD8) thioester to the complex, and optimizing the orientation of proteins in the complex to allow efficient transfer of NEDD8 from the E2 to the cullin substrates. Involved in the release of inhibitory effets of CAND1 on cullin-RING ligase E3 complex assembly and activity (PubMed:25349211, PubMed:28581483). Also acts as an oncogene facilitating malignant transformation and carcinogenic progression (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RB37;Q7L3G9;Q8TEX7;Q9H6M1;Q9HCT3", "ec_number_list": [], "go_molecular_function": "GO:0032182 ubiquitin-like protein binding;GO:0097602 cullin family protein binding;GO:0031624 ubiquitin conjugating enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0045116 protein neddylation;GO:0031396 regulation of protein ubiquitination;GO:2000436 positive regulation of protein neddylation;GO:2000434 regulation of protein neddylation", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q96GG9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60022-1", "uniprot_id": [ { "id": "DEFB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P60022", "type": "external" } ], "mass": 7420.0, "length": 68, "protein_name": "Beta-defensin 1", "gene_name": "DEFB1", "organism": "Human", "refseq_name": "beta-defensin 1 preproprotein", "refseq_ac": [ { "id": "NP_005209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005209", "type": "external" } ], "gene_names_uniprotkb": "DEFB1; BD1; HBD1", "gene_names_refseq": "BD1; DEFB-1; DEFB101; DEFB1; HBD1", "protein_names_uniprotkb": "Beta-defensin 1; BD-1; Defensin, beta 1; hBD-1", "protein_names_refseq": "BD-1; beta-defensin 1 preproprotein; beta-defensin 1", "tax_id": 9606, "disease": "pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); pulmonary sarcoidosis (Disease Ontology:DOID:13406); asthma (Disease Ontology:DOID:2841); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); pneumonia (Disease Ontology:DOID:552); lung disease (Disease Ontology:DOID:850); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1672); (R-HSA-1461957); (R-HSA-1461973)", "pathway_count": 3, "publication_count": 29, "publication_id_list": "10521347;10914484;11085990;11486002;11702237;11714914;11934878;12010514;12949495;18006661;20100591;20112406;20214904;20385753;20483750;21122132;23938203;25122636;29557506;32387766;37697693;38246944;38285273;38973431;39395079;7628632;9070620;9268634;9541493", "class_list": "", "function": "Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Effects of Schumann resonance on the proliferation and migration of normal human epidermal keratinocytes and the expression of DEFB1 and SIRT1., [RefSeq, PubMed]; Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:25122636)., [UniProtKB, PubMed]; Polymorphic variation of the DEFB1 gene might contribute to the development of ankylosing spondylitis: a preliminary study. Publication Status: Online-Only, [RefSeq, PubMed]; Relationship between biofilm-forming microorganisms (BFM: Staphylococcus aureus and Pseudomonas aeruginosa) and DEFB1 gene variants on beta-defensin levels in periprosthetic joint infection (PJI). Publication Status: Online-Only, [RefSeq, PubMed]; Salivary Th17 cytokine, human beta-defensin 1-3, and salivary scavenger and agglutinin levels in Crohn's disease. Publication Status: Online-Only, [RefSeq, PubMed]; The DEFB1 gene rs11362 A/G genetic variant is associated with risk of developing CAD: a case-control study., [RefSeq, PubMed]; This gene encodes a peptide with antimicrobial activity against S. aureus and H. influenzae. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q09753", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031731 CCR6 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006935 chemotaxis;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0019722 calcium-mediated signaling;GO:0019731 antibacterial humoral response", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P60022-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19235-1", "uniprot_id": [ { "id": "EPOR_HUMAN", "url": "https://www.uniprot.org/uniprot/P19235", "type": "external" } ], "mass": 55065.0, "length": 508, "protein_name": "Erythropoietin receptor", "gene_name": "EPOR", "organism": "Human", "refseq_name": "erythropoietin receptor precursor", "refseq_ac": [ { "id": "NP_000112", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000112", "type": "external" } ], "gene_names_uniprotkb": "EPOR", "gene_names_refseq": "EPO-R; EPOR", "protein_names_uniprotkb": "Erythropoietin receptor; EPO-R", "protein_names_refseq": "erythropoietin receptor precursor", "tax_id": 9606, "disease": "familial erythrocytosis 1 (Disease Ontology:DOID:0060652); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); primary polycythemia (Disease Ontology:DOID:10780); retinopathy of prematurity (Disease Ontology:DOID:13025); hepatic encephalopathy (Disease Ontology:DOID:13413); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); brain ischemia (Disease Ontology:DOID:2316); anemia (Disease Ontology:DOID:2355); high grade glioma (Disease Ontology:DOID:3070); cholangiocarcinoma (Disease Ontology:DOID:4947); retinal detachment (Disease Ontology:DOID:5327); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); polycythemia (Disease Ontology:DOID:8432); polycythemia vera (Disease Ontology:DOID:8997); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:2057); (R-HSA-9006335); (R-HSA-9027276); (R-HSA-9027277); (R-HSA-9027283); (R-HSA-9027284)", "pathway_count": 6, "publication_count": 87, "publication_id_list": "10194437;10374881;10388848;10455108;10498627;10660611;10882725;11007921;11124936;11231127;11237011;11443118;11598010;11722595;11756159;11781573;11784712;12027890;12441334;12506011;12746455;1324524;1375226;1377053;15149544;15459301;15644415;1569084;1654273;1657727;1664413;1668606;1668607;17108343;19665053;2163695;2163696;22509308;22935486;24583149;24584613;25092874;25582283;27535533;27769065;28142147;29493099;29557506;31182716;31844290;32157095;32938616;33592498;35251023;37844485;38127913;38509204;7228577;7528537;7534299;7539782;7559499;7608147;7744007;8034732;8174675;8400282;8506290;8608241;8662530;8662939;8677749;8861946;9057652;9162069;9209406;9334184;9573010;9587401;9657743;9722506;9774108;9808045;9837784;9923445;9974392;9974393", "class_list": "", "function": "Acts as a dominant-negative receptor of EPOR-mediated signaling., [UniProtKB, PubMed]; Erythropoietin receptor is a risk factor for prognosis: A potential biomarker in lung adenocarcinoma., [RefSeq, PubMed]; Erythropoietin receptor signal is crucial for periodontal ligament stem cell-based tissue reconstruction in periodontal disease. Publication Status: Online-Only, [RefSeq, PubMed]; Hemolysis-driven IFNalpha production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease., [RefSeq, PubMed]; Receptor for erythropoietin, which mediates erythropoietin-induced erythroblast proliferation and differentiation (PubMed:10388848, PubMed:2163695, PubMed:2163696, PubMed:8662939, PubMed:9774108). Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade (By similarity). In some cell types, can also activate STAT1 and STAT3 (PubMed:11756159). May also activate the LYN tyrosine kinase (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 17, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 18, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RCG4;Q15443;Q2M205", "ec_number_list": [], "go_molecular_function": "GO:0004900 erythropoietin receptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0038162 erythropoietin-mediated signaling pathway;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P19235-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14344-1", "uniprot_id": [ { "id": "GNA13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14344", "type": "external" } ], "mass": 44050.0, "length": 377, "protein_name": "Guanine nucleotide-binding protein subunit alpha-13", "gene_name": "GNA13", "organism": "Human", "refseq_name": "guanine nucleotide-binding protein subunit alpha-13 isoform 2", "refseq_ac": [ { "id": "NP_001269354", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269354", "type": "external" } ], "gene_names_uniprotkb": "GNA13", "gene_names_refseq": "G13; GNA13; HG1N", "protein_names_uniprotkb": "Guanine nucleotide-binding protein subunit alpha-13; G alpha-13; G protein subunit alpha-13", "protein_names_refseq": "g alpha-13; guanine nucleotide binding protein (G protein), alpha 13; guanine nucleotide-binding protein subunit alpha-13 isoform 2; guanine nucleotide-binding protein subunit alpha-13; heterotrimeric guanine nucleotide-binding protein 1N", "tax_id": 9606, "disease": "McCune Albright syndrome (Disease Ontology:DOID:1858)", "pathway": " (hsa:10672); (R-HSA-193648); (R-HSA-416482); (R-HSA-428930); (R-HSA-456926); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 7, "publication_count": 386, "publication_id_list": "10.1101/2023.09.13.557529;10026210;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10747909;10873802;10958683;11007481;11058585;11085924;11094164;11149925;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;11976333;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221096;12351724;12399457;12432077;12433842;12464619;12515866;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14673001;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15240885;15260990;15302923;15304341;15339924;15342493;15470142;15485661;15507211;15579468;15601624;15611138;15699075;15728722;15749160;15850391;15858067;15897194;15951850;16002401;16102047;16112081;16116428;16184169;16202387;16212421;16212495;16217026;16243036;16418336;16473593;16492808;16507994;16519628;16580177;16630611;16636067;16702231;16705036;16714282;1672265;16762923;16777452;16777849;16787920;16862148;16896804;16914516;16923326;16968698;17064668;17077126;17081065;17145773;17196961;17214551;17244649;17583407;17599059;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18218625;18249095;1825698;18347018;18363964;18374420;18396277;18426980;1851174;18577758;18653540;18703424;18786931;18835169;18838382;18929667;19212140;19269969;19494238;19605563;19673492;19713215;19715408;19934221;20068231;20400958;20460433;20670195;20679435;20810653;21148482;21172430;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22661716;22734669;22970203;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23940355;23994616;24086303;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25274307;25414122;25428919;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26529257;26598554;26887924;26992070;27072905;27084452;27096001;27117132;27145964;27216196;27452731;27481945;27555588;27566826;27713499;27798618;27806292;28028151;28114311;28196833;28218747;28228285;28467828;28514659;28649982;28825699;28832583;28860633;29089502;29242379;29314611;29317506;29358323;29382922;29393594;29557506;29632046;29632711;29786170;30007591;30061681;30315122;30573663;30833945;30853411;31154438;31844290;31871319;32157095;32161166;32203420;32265295;32350084;32357974;32387766;32502341;32639031;32897882;32938616;32983136;33043033;33109615;33141586;33298915;33392160;33423045;33592498;33691108;33717175;33936100;33968037;33981976;34185709;34229054;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35251023;35418682;35561310;35580925;36010968;36215666;36442589;36543774;38357893;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7791744;7835339;7937899;8021274;8107774;8290554;8537347;8543060;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8982657;8990121;8994827;9013646;9087410;9099726;9113980;9152406;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9582072;9618465;9659915;9670022;9792683;9796816;9822598;9829970;9843499;9846874;9924018;9988689", "class_list": "", "function": "GNA13 regulates BCL2 expression and the sensitivity of GCB-DLBCL cells to BCL2 inhibitors in a palmitoylation-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:15240885, PubMed:16705036, PubMed:16787920, PubMed:27084452). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG) (PubMed:12515866, PubMed:15240885). GNA13-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (By similarity). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway (PubMed:16705036, PubMed:16787920, PubMed:27084452). Inhibits CDH1-mediated cell adhesion in a process independent from Rho activation (PubMed:11976333). In lymphoid follicles, transmits P2RY8- and S1PR2-dependent signals that lead to inhibition of germinal center (GC) B cell growth and migration outside the GC niche., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Naturally occurring hotspot cancer mutations in Galpha13 promote oncogenic signaling., [RefSeq, PubMed]; Overexpressed Galpha13 activates serum response factor through stoichiometric imbalance with Gbetagamma and mislocalization to the cytoplasm., [RefSeq, PubMed]; The lncRNA TRG-AS1 promotes the growth of colorectal cancer cells through the regulation of P2RY10/GNA13., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R977;B7Z7R0;F5H1G8;Q8TD70", "ec_number_list": [], "go_molecular_function": "GO:0031752 D5 dopamine receptor binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0031683 G-protein beta/gamma-subunit complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0008217 regulation of blood pressure;GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 39.1, "record_id": "Q14344-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C000-1", "uniprot_id": [ { "id": "NLRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C000", "type": "external" } ], "mass": 165866.0, "length": 1473, "protein_name": "NACHT, LRR and PYD domains-containing protein 1", "gene_name": "NLRP1", "organism": "Human", "refseq_name": "NACHT, LRR and PYD domains-containing protein 1 isoform 5", "refseq_ac": [ { "id": "NP_001028225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028225", "type": "external" } ], "gene_names_uniprotkb": "NLRP1; CARD7; DEFCAP; KIAA0926; NAC; NALP1", "gene_names_refseq": "AIADK; CARD7; CIDED; CLR17.1; DEFCAP-L/S; DEFCAP; JRRP; MSPC; NAC; NALP1; NLRP1; PP1044; SLEV1; VAMAS1", "protein_names_uniprotkb": "NACHT, LRR and PYD domains-containing protein 1; 3.4.-.-; 3.6.4.-; Caspase recruitment domain-containing protein 7; Death effector filament-forming ced-4-like apoptosis protein; Nucleotide-binding domain and caspase recruitment domain", "protein_names_refseq": "NACHT, LRR and PYD containing protein 1; NACHT, LRR and PYD domains-containing protein 1 isoform 5; NACHT, LRR and PYD domains-containing protein 1; NACHT, leucine rich repeat and PYD (pyrin domain) containing 1; NACHT, leucine rich repeat and PYD containing 1; caspase recruitment domain protein 7; caspase recruitment domain-containing protein 7; death effector filament-forming Ced-4-like apoptosis protein; nucleotide-binding domain and caspase recruitment domain; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1", "tax_id": 9606, "disease": "vitiligo (Disease Ontology:DOID:12306); vitiligo-associated multiple autoimmune disease susceptibility 1 (MONDO:MONDO:0011684); corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome (MONDO:MONDO:0014089); respiratory papillomatosis, juvenile recurrent, congenital (MONDO:MONDO:0032925); autoinflammation with arthritis and dyskeratosis (MONDO:MONDO:0060457)", "pathway": " (hsa:22861); (R-HSA-844455)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "11076957;11113115;11237011;11250163;11270363;12191486;14527388;15212762;15285719;16439990;17164409;17349957;17377159;17418785;17431422;18511561;19651869;22087307;22665479;22801494;23349227;23481700;24439873;24715725;25418920;25562666;25576301;25880248;25892735;26086088;26154972;26347139;26375851;27543614;27662089;27846572;27862975;27920218;27965258;28228285;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29769354;30096351;30291141;30315122;30524438;31154438;31484767;31525884;31844290;31848261;32051255;32157095;32387766;32502341;32558991;32897882;32938616;32983136;33093214;33141586;33243852;33298915;33410748;33420028;33420033;33592498;33717175;33731929;33731932;33852854;33936100;33968037;34211107;34509645;35051231;35561310;35580925;35594856;35618833;35857590;36284347;36581221;37889986;38104185;38215746;38411106;38540722", "class_list": "", "function": "Acts as the sensor component of the NLRP1 inflammasome, which mediates inflammasome activation in response to various pathogen-associated signals, leading to subsequent pyroptosis (PubMed:12191486, PubMed:17349957, PubMed:22665479, PubMed:27662089, PubMed:31484767, PubMed:33093214, PubMed:33410748, PubMed:33731929, PubMed:33731932, PubMed:35857590). Inflammasomes are supramolecular complexes that assemble in the cytosol in response to pathogens and other damage-associated signals and play critical roles in innate immunity and inflammation (PubMed:12191486, PubMed:17349957, PubMed:22665479). Acts as a recognition receptor (PRR): recognizes specific pathogens and other damage-associated signals, such as cleavage by some human enteroviruses and rhinoviruses, double-stranded RNA, UV-B irradiation, or Val-boroPro inhibitor, and mediates the formation of the inflammasome polymeric complex composed of NLRP1, CASP1 and PYCARD/ASC (PubMed:12191486, PubMed:17349957, PubMed:22665479, PubMed:25562666, PubMed:30096351, PubMed:30291141, PubMed:33093214, PubMed:33243852, PubMed:33410748, PubMed:35857590). In response to pathogen-associated signals, the N-terminal part of NLRP1 is degraded by the proteasome, releasing the cleaved C-terminal part of the protein (NACHT, LRR and PYD domains-containing protein 1, C-terminus), which polymerizes and associates with PYCARD/ASC to initiate the formation of the inflammasome complex: the NLRP1 inflammasome recruits pro-caspase-1 (proCASP1) and promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), leading to pyroptosis (PubMed:12191486, PubMed:17349957, PubMed:22665479, PubMed:32051255, PubMed:33093214). In the absence of GSDMD expression, the NLRP1 inflammasome is able to recruit and activate CASP8, leading to activation of gasdermin-E (GSDME) (PubMed:33852854, PubMed:35594856). Activation of NLRP1 inflammasome is also required for HMGB1 secretion; the active cytokines and HMGB1 stimulate inflammatory responses (PubMed:22801494). Binds ATP and shows ATPase activity (PubMed:11113115, PubMed:15212762, PubMed:33243852). Plays an important role in antiviral immunity and inflammation in the human airway epithelium (PubMed:33093214). Specifically recognizes a number of pathogen-associated signals: upon infection by human rhinoviruses 14 and 16 (HRV-14 and HRV-16), NLRP1 is cleaved and activated which triggers NLRP1-dependent inflammasome activation and IL18 secretion (PubMed:33093214). Positive-strand RNA viruses, such as Semliki forest virus and long dsRNA activate the NLRP1 inflammasome, triggering IL1B release in a NLRP1-dependent fashion (PubMed:33243852). Acts as a direct sensor for long dsRNA and thus RNA virus infection (PubMed:33243852). May also be activated by muramyl dipeptide (MDP), a fragment of bacterial peptidoglycan, in a NOD2-dependent manner (PubMed:18511561). The NLRP1 inflammasome is also activated in response to UV-B irradiation causing ribosome collisions: ribosome collisions cause phosphorylation and activation of NLRP1 in a MAP3K20-dependent manner, leading to pyroptosis (PubMed:35857590)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Constitutes the active part of the NLRP1 inflammasome (PubMed:33093214, PubMed:33731929, PubMed:33731932). In absence of pathogens and other damage-associated signals, interacts with the N-terminal part of NLRP1 (NACHT, LRR and PYD domains-containing protein 1, N-terminus), preventing activation of the NLRP1 inflammasome (PubMed:33093214). In response to pathogen-associated signals, the N-terminal part of NLRP1 is degraded by the proteasome, releasing this form, which polymerizes and associates with PYCARD/ASC to form of the NLRP1 inflammasome complex: the NLRP1 inflammasome complex then directly recruits pro-caspase-1 (proCASP1) and promotes caspase-1 (CASP1) activation, leading to gasdermin-D (GSDMD) cleavage and subsequent pyroptosis (PubMed:33093214)., [UniProtKB, PubMed, PubMed, PubMed]; Constitutes the precursor of the NLRP1 inflammasome, which mediates autoproteolytic processing within the FIIND domain to generate the N-terminal and C-terminal parts, which are associated non-covalently in absence of pathogens and other damage-associated signals., [UniProtKB, PubMed]; Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; It is unclear whether is involved in inflammasome formation. It is not cleaved within the FIIND domain, does not assemble into specks, nor promote IL1B release (PubMed:22665479). However, in an vitro cell-free system, it has been shown to be activated by MDP (PubMed:17349957)., [UniProtKB, PubMed, PubMed]; NLRP1 restricts porcine deltacoronavirus infection via IL-11 inhibiting the phosphorylation of the ERK signaling pathway., [RefSeq, PubMed]; NLRP1- A CINDERELLA STORY: a perspective of recent advances in NLRP1 and the questions they raise. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory part that prevents formation of the NLRP1 inflammasome: in absence of pathogens and other damage-associated signals, interacts with the C-terminal part of NLRP1 (NACHT, LRR and PYD domains-containing protein 1, C-terminus), preventing activation of the NLRP1 inflammasome (PubMed:33093214). In response to pathogen-associated signals, this part is ubiquitinated and degraded by the proteasome, releasing the cleaved C-terminal part of the protein, which polymerizes and forms the NLRP1 inflammasome (PubMed:33093214)., [UniProtKB, PubMed]; Role of the NLRP1 inflammasome in skin cancer and inflammatory skin diseases. Review article, [RefSeq, PubMed]; The interaction between NLRP1 and oxidized TRX1 involves a transient disulfide bond., [RefSeq, PubMed]; This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The encoded protein contains a distinct N-terminal pyrin-like motif, which is possibly involved in protein-protein interactions. This protein interacts strongly with caspase 2 and weakly with caspase 9. Overexpression of this gene was demonstrated to induce apoptosis in cells. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 16, "reported_mutagensis": 70, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PE50;I6L9D9;Q9BZZ8;Q9BZZ9;Q9H5Z7;Q9H5Z8;Q9HAV8;Q9UFT4;Q9Y2E0", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0016887 ATP hydrolysis activity;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071493 cellular response to UV-B;GO:0002221 pattern recognition receptor signaling pathway;GO:1904784 NLRP1 inflammasome complex assembly;GO:0006954 inflammatory response;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9C000-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36873-1", "uniprot_id": [ { "id": "PP1G_HUMAN", "url": "https://www.uniprot.org/uniprot/P36873", "type": "external" } ], "mass": 36984.0, "length": 323, "protein_name": "Serine/threonine-protein phosphatase PP1-gamma catalytic subunit", "gene_name": "PPP1CC", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase PP1-gamma catalytic subunit isoform 2", "refseq_ac": [ { "id": "NP_001231903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231903", "type": "external" } ], "gene_names_uniprotkb": "PPP1CC", "gene_names_refseq": "PP-1G; PP1C; PPP1CC; PPP1G", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase PP1-gamma catalytic subunit; 3.1.3.16; PP-1G; Protein phosphatase 1C catalytic subunit", "protein_names_refseq": "protein phosphatase 1, catalytic subunit, gamma isozyme; protein phosphatase 1C catalytic subunit; serine/threonine phosphatase 1 gamma; serine/threonine-protein phosphatase PP1-gamma catalytic subunit isoform 2; serine/threonine-protein phosphatase PP1-gamma catalytic subunit", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5501); (R-HSA-141430); (R-HSA-141444); (R-HSA-163560); (R-HSA-2173788); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-5673000); (R-HSA-68877); (R-HSA-9648025); (R-HSA-9726840); (R-HSA-9726842); (R-HSA-9828806); (R-HSA-9931530)", "pathway_count": 15, "publication_count": 289, "publication_id_list": 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"class_list": "", "function": "High expression of PPP1CC promotes NHEJ-mediated DNA repair leading to radioresistance and poor prognosis in nasopharyngeal carcinoma., [RefSeq, PubMed]; PP1gamma regulates neuronal insulin signaling and aggravates insulin resistance leading to AD-like phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets (PubMed:17936702, PubMed:25012651). Protein phosphatase 1 (PP1) is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Dephosphorylates RPS6KB1 (PubMed:17936702). Involved in regulation of ionic conductances and long-term synaptic plasticity. May play an important role in dephosphorylating substrates such as the postsynaptic density-associated Ca(2+)/calmodulin dependent protein kinase II. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase (PubMed:20516061). In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation (PubMed:21712997). May dephosphorylate CSNK1D and CSNK1E (By similarity). Regulates the recruitment of the SKA complex to kinetochores (PubMed:28982702). Dephosphorylates the 'Ser-418' residue of FOXP3 in regulatory T-cells (Treg) from patients with rheumatoid arthritis, thereby inactivating FOXP3 and rendering Treg cells functionally defective (PubMed:23396208). Together with PPP1CA (PP1-alpha subunit), dephosphorylates IFIH1/MDA5 and RIG-I leading to their activation and a functional innate immune response (PubMed:23499489). Core component of the SHOC2-MRAS-PP1c (SMP) holophosphatase complex that regulates the MAPK pathway activation (PubMed:35768504, PubMed:35831509). The SMP complex specifically dephosphorylates the inhibitory phosphorylation at 'Ser-259' of RAF1 kinase, 'Ser-365' of BRAF kinase and 'Ser-214' of ARAF kinase, stimulating their kinase activities (PubMed:35768504, PubMed:35831509). Dephosphorylates MKI67 at the onset of anaphase (PubMed:25012651). The SMP complex enhances the dephosphorylation activity and substrate specificity of PP1c (PubMed:35768504, PubMed:35831509)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structure of the SHOC2-MRAS-PP1C complex provides insights into RAF activation and Noonan syndrome., [RefSeq, PubMed]; TIMAP, a Regulatory Subunit of Protein Phosphatase 1, Inhibits In Vitro Neuronal Differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell division. It is expressed in mammalian cells as three closely related isoforms, alpha, beta/delta and gamma, which have distinct localization patterns. This gene encodes the gamma isozyme. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.11.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.30", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.4.22.49", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.49", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0060252 positive regulation of glial cell proliferation;GO:0051301 cell division;GO:0000165 MAPK cascade;GO:0005977 glycogen metabolic process", "synthesized_glycan_count": 0, "hit_score": 29.2, "record_id": "P36873-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10523-1", "uniprot_id": [ { "id": "ARRS_HUMAN", "url": "https://www.uniprot.org/uniprot/P10523", "type": "external" } ], "mass": 45120.0, "length": 405, "protein_name": "S-arrestin", "gene_name": "SAG", "organism": "Human", "refseq_name": "S-arrestin", "refseq_ac": [ { "id": "NP_000532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000532", "type": "external" } ], "gene_names_uniprotkb": "SAG", "gene_names_refseq": "RP47; RP96; S-AG; SAG", "protein_names_uniprotkb": "S-arrestin; 48 kDa protein; Retinal S-antigen; Rod photoreceptor arrestin; S-AG", "protein_names_refseq": "48 kDa protein; S-antigen; S-arrestin; arrestin 1; retina and pineal gland (arrestin); retinal S-antigen (48 KDa protein); rod arrestin; rod photoreceptor arrestin", "tax_id": 9606, "disease": "retinitis pigmentosa 96 (Disease Ontology:DOID:0061104); retinitis pigmentosa 47 (Disease Ontology:DOID:0110369); Oguchi disease-1 (Disease Ontology:DOID:0110712); hereditary night blindness (Disease Ontology:DOID:8498)", "pathway": " (hsa:6295); (R-HSA-2485179); (R-HSA-2514859)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10037746;10051575;10564809;10676965;11237011;11292825;11601986;11687658;11713293;11754336;12036349;12119397;12432397;12467591;12467592;12499365;12825937;1356371;1379636;1387789;1436039;14702087;15234147;15946941;1614872;16274222;16460277;16895762;16908407;1701801;17114291;1720239;1722240;17286855;17636946;18803695;19815288;19818506;1999465;20430952;20850105;20975703;21288033;2155175;2161380;22658984;22665972;23481700;2422346;2457685;2467600;2473195;2540796;2550422;2558719;2578616;26200343;2748346;2835761;2837463;28549094;28753425;3006923;3095147;3164688;31844290;32333190;33047631;33141586;33717175;34087483;35549688;36581221;3720866;3933561;4359491;4361997;4366891;4772407;6264430;6930647;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8382952;8494894;8500562;8626439;8673138;8706659;8812493;8913594;9020843;9119368;9353336;9430683;9452120;9459445;9478004;9501883;9506952;9565049", "class_list": "", "function": "Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G proteins by competing with G proteins for the same binding site on RHO (By similarity). May play a role in preventing light-dependent degeneration of retinal photoreceptor cells (PubMed:9565049)., [UniProtKB, UniProtKB, PubMed]; Binds to photoactivated, phosphorylated RHO and terminates RHO signaling via G-proteins by competing with G-proteins for the same binding site on RHO. May play a role in preventing light-dependent degeneration of retinal photoreceptor cells., [UniProtKB, UniProtKB, UniProtKB]; Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]., [RefSeq]; Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease. Publication Status: Online-Only, [RefSeq, PubMed]; Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up., [RefSeq, PubMed]; Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0FDN6;Q53SV3;Q99858", "ec_number_list": [], "go_molecular_function": "GO:0001664 G protein-coupled receptor binding;GO:0051219 phosphoprotein binding;GO:0030507 spectrin binding;GO:0002046 opsin binding;GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0001917 photoreceptor inner segment;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007600 sensory perception;GO:0002031 G protein-coupled receptor internalization;GO:0016056 G protein-coupled opsin signaling pathway;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P10523-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49747-1", "uniprot_id": [ { "id": "COMP_HUMAN", "url": "https://www.uniprot.org/uniprot/P49747", "type": "external" } ], "mass": 82860.0, "length": 757, "protein_name": "Cartilage oligomeric matrix protein", "gene_name": "COMP", "organism": "Human", "refseq_name": "cartilage oligomeric matrix protein precursor", "refseq_ac": [ { "id": "NP_000086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000086", "type": "external" } ], "gene_names_uniprotkb": "COMP", "gene_names_refseq": "COMP; CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5; TSP5", "protein_names_uniprotkb": "Cartilage oligomeric matrix protein; COMP; TSP5; Thrombospondin-5", "protein_names_refseq": "cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple); cartilage oligomeric matrix protein precursor; multiple epiphyseal dysplasia; pseudoachondroplasia (epiphyseal dysplasia 1, multiple); thrombospondin-5", "tax_id": 9606, "disease": "multiple epiphyseal dysplasia 1 (Disease Ontology:DOID:0070303); carpal tunnel syndrome 2 (Disease Ontology:DOID:0070467); pseudoachondroplasia (Disease Ontology:DOID:0080047); multiple epiphyseal dysplasia (Disease Ontology:DOID:12721); osteochondrodysplasia (Disease Ontology:DOID:2256)", "pathway": " (hsa:1311); (R-HSA-216083); (R-HSA-3000178)", "pathway_count": 3, "publication_count": 142, "publication_id_list": "10022829;10209034;10339611;10366422;10438935;10543983;10593924;10605720;10640428;10673326;10673366;10713152;10811134;10852928;10982388;11084047;11158588;11237011;11259413;11518510;11565064;11572855;11713259;11746044;11746045;11980922;12225811;12483304;12496264;12585966;12682293;12807887;1376317;14715956;15075323;15240572;15296743;15330449;15345499;15383545;1544908;15713743;1588291;15899827;16002701;16051604;16239428;16293224;16493581;16542502;16611630;16731529;16754661;16933105;17339034;17588949;17968485;17993464;18710925;18775695;19276170;19502598;20033473;2010551;2059554;20705068;21642437;21789315;21922596;22134916;22179616;22539938;22884367;23090970;23374253;2364322;2412224;2420006;2430969;28514659;29671580;29741879;29786170;31217245;32157095;32350084;32686688;32747625;33123756;34411563;35051231;35251023;35580925;36241641;37074911;37556859;37838792;38479555;38528617;38665916;39672391;6193777;6439184;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7559467;7670471;7670472;7685013;7693733;7713493;7852349;8002934;8118028;8344274;8440685;8560266;8798654;8838667;8910476;8943283;9021009;9184241;9251239;9252349;9294172;9341124;9346959;9443892;9452026;9452063;9463320;9565552;9685393;9858236;9921895;9949188", "class_list": "", "function": "A preliminary study on the effect of loaded and unloaded exercise on N-propeptide of type II collagen and serum cartilage oligomeric matrix protein activity of articular cartilage in healthy young adults., [RefSeq, PubMed]; COMP promotes pancreatic fibrosis by activating pancreatic stellate cells through CD36-ERK/AKT signaling pathways., [RefSeq, PubMed]; Cartilage oligomeric matrix protein overexpression is an independent poor prognostic indicator in patients with intrahepatic cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Diagnostic value of serum COMP and ADAMTS7 for intervertebral disc degeneration. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin. Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors (PubMed:16051604, PubMed:16542502). Could play a role in the pathogenesis of osteoarthritis (PubMed:16542502). Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP) (PubMed:17993464). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 5, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DKJ3;O14592;Q16388;Q16389;Q2NL86;Q8N4T2", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0043395 heparan sulfate proteoglycan binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:1990341 thrombospondin complex", "go_biological_process": "GO:0007155 cell adhesion;GO:0043066 negative regulation of apoptotic process;GO:0051260 protein homooligomerization;GO:0006915 apoptotic process;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "P49747-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZK7-1", "uniprot_id": [ { "id": "TBL1R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZK7", "type": "external" } ], "mass": 55595.0, "length": 514, "protein_name": "F-box-like/WD repeat-containing protein TBL1XR1", "gene_name": "TBL1XR1", "organism": "Human", "refseq_name": "F-box-like/WD repeat-containing protein TBL1XR1 isoform 1", "refseq_ac": [ { "id": "NP_001308122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308122", "type": "external" } ], "gene_names_uniprotkb": "TBL1XR1; IRA1; TBLR1", "gene_names_refseq": "C21; DC42; IRA1; MRD41; TBL1XR1; TBLR1", "protein_names_uniprotkb": "F-box-like/WD repeat-containing protein TBL1XR1; Nuclear receptor corepressor/HDAC3 complex subunit TBLR1; TBL1-related protein 1; Transducin beta-like 1X-related protein 1", "protein_names_refseq": "F-box-like/WD repeat-containing protein TBL1XR1 isoform 1; F-box-like/WD repeat-containing protein TBL1XR1; TBL1-related protein 1; TBL1X receptor 1; nuclear receptor corepressor/HDAC3 complex subunit TBLR1; transducin beta like 1 X-linked receptor 1", "tax_id": 9606, "disease": "sensory system disease (Disease Ontology:DOID:0050155); autosomal dominant intellectual developmental disorder 41 (Disease Ontology:DOID:0070071); Pierpont syndrome (Disease Ontology:DOID:0081362)", "pathway": " (hsa:79718); (R-HSA-1368108); (R-HSA-1989781); (R-HSA-2122947); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3214815); (R-HSA-350054); (R-HSA-381340); (R-HSA-400206); (R-HSA-9022537); (R-HSA-9022692); (R-HSA-9029569); (R-HSA-9609690); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9841922); (R-HSA-9931509); (R-HSA-9933387); (R-HSA-9976102)", "pathway_count": 22, "publication_count": 403, "publication_id_list": "10075656;10198158;10206645;10381560;10400691;10412986;10425206;10444591;10449787;10494028;10529898;10558993;10643692;10713164;10713165;10748112;10759542;10777541;10835357;10858438;10879540;10882063;10882139;10904264;10922406;10926844;10964718;11006133;11018023;11027271;11044625;11063877;11095972;11112321;11149950;11162494;11226238;11237011;11241162;11267664;11330046;11340167;11387216;11414710;11461910;11500512;11509652;11585921;11604492;11739383;11740940;11742974;11779144;11809803;11872672;11875109;11909966;11931768;12032151;12032298;12050117;12083769;12118000;12130498;12130638;12150943;12177166;12209127;12213831;12354787;12356737;12374742;12374852;12377782;12391150;12406875;12454263;12505311;12511571;12530964;12563009;12582161;12612088;12628926;12724404;12738229;12745923;12764144;12829629;12857923;12969439;1310260;1377680;14672706;14703507;14764426;14980219;15067378;15107403;15130092;15147902;15175654;15273253;15322089;15500444;15546612;15560782;15574878;15601853;15635043;15665827;15684387;15760269;15761026;15824097;15829515;15850785;15919796;16079181;16079853;16093323;16140760;16256737;16380219;16476485;16503871;16530044;16530045;16568091;16738328;16751179;16788062;16857194;16890199;16908542;16911507;16972786;17003037;17007889;17011499;17031457;17046689;17114293;17157496;17186944;17211407;17264172;17306620;17401372;17437997;17449569;17525332;17646408;17646409;17715127;17761950;17923681;17925399;17980149;17994015;18006707;18037887;18043734;18077452;18094723;18203656;18215119;18288277;18292238;18296446;18343819;18374649;18535146;18540824;18559965;18587630;18654640;18680753;18682402;18719978;18726356;18782758;18824583;18824585;18848529;18931025;19001277;19043829;19088433;19115207;19151708;19172745;19225110;19289416;19331822;19356719;19417006;19481530;19524514;19682613;1968462;19690164;19710360;19710929;1971514;19726682;19820693;19934321;19951946;19968714;20068231;20101261;20110263;20138239;20450493;20466882;20466885;20494359;20566875;20581824;20719759;20817722;20855588;20929863;20937905;20972443;21187453;21310851;21479263;21507939;21587264;21628546;21690215;21740066;21889235;22174689;22223895;22381047;22427940;22495309;22541735;22634312;22673513;22837180;23160955;23186163;23239344;23496987;23519696;23770565;23770587;23790976;24196956;24397554;25102098;2539258;25425123;25576301;26101246;26154972;26239616;26375851;26572645;26769062;26984517;26992070;27071062;27133561;2713875;27501258;27600516;27754849;27846572;27862975;27880911;27920218;28063628;28082258;28111073;28218747;28228285;28415052;28510447;28698372;28832583;28834231;28842423;28869506;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29772548;29786170;2991279;30315122;30360396;30429286;30761409;31154438;31530632;31748741;31844290;32157095;32265295;32354867;32357974;32488085;32502341;32695117;32938616;32983136;33298915;33329381;3345742;33592498;33912179;33968037;34019948;3427020;3475708;35051231;35580925;36284347;37909960;37938771;38073440;38378692;38665916;40914422;6094553;7513682;7566092;7567999;7588063;7592729;7629110;7685352;7732023;7799916;7892212;7909540;7981125;8001118;8020941;8060328;8108407;8156598;8325954;8333869;8386511;8402897;8415693;8521497;8521498;8618898;8619637;8622974;8626466;8626488;8643605;8647822;8649374;8663599;8687460;8706692;8770873;8798690;8887638;8970730;8976377;9012850;9062340;9065481;9079689;9099716;9144434;9150135;9171241;9178750;9244301;9286700;9315665;9454824;9462510;9604010;9604939;9620803;9620804;9634533;9651585;9651681;9694793;9744270;9748239;9748295;9790534;9819428;9836620", "class_list": "", "function": "Exploring TBL1XR1 and NCOR1 Expression in B-cell Lymphoma Subtypes: Interaction With DNA Damage Repair Genes., [RefSeq, PubMed]; F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation., [UniProtKB, PubMed, UniProtKB, UniProtKB]; LncRNA799/TBL1XR1/ZEB1 Axis Forms a Feedback Loop to Promote the Epithelial-Mesenchymal Transition of Cervical Cancer Cells., [RefSeq, PubMed]; Our study provides new insights into the molecular tumorigenesis of PCNSL and identifies novel genetic alterations in this disease, especially MYD88 and TBL1XR1 mutations activating the NF-kappaB signaling pathway., [RefSeq, PubMed]; TBL1 and TBLR1 are functionally redundant and essential for transcriptional repression by unliganded thyroid hormone receptors (TR) but not essential for transcriptional activation by liganded TR, [RefSeq, PubMed]; That TBL1XR1 haploinsufficiency can cause intellectual disability with a recognizable dysmorphism, without necessarily causing autistic behavior., [RefSeq, PubMed]; The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DNQ9;Q14DC3;Q9H2I1;Q9H9A1", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0000976 transcription cis-regulatory region binding;GO:0008013 beta-catenin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex;GO:0000118 histone deacetylase complex;GO:0072686 mitotic spindle", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 40.6, "record_id": "Q9BZK7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPT6-1", "uniprot_id": [ { "id": "JIP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPT6", "type": "external" } ], "mass": 147457.0, "length": 1336, "protein_name": "C-Jun-amino-terminal kinase-interacting protein 3", "gene_name": "MAPK8IP3", "organism": "Human", "refseq_name": "C-Jun-amino-terminal kinase-interacting protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001035529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035529", "type": "external" } ], "gene_names_uniprotkb": "MAPK8IP3; JIP3; KIAA1066", "gene_names_refseq": "JIP-3; JIP3; JSAP1; MAPK8IP3; NEDBA; SYD2; syd", "protein_names_uniprotkb": "C-Jun-amino-terminal kinase-interacting protein 3; JIP-3; JNK MAP kinase scaffold protein 3; JNK-interacting protein 3; Mitogen-activated protein kinase 8-interacting protein 3", "protein_names_refseq": "C-Jun-amino-terminal kinase-interacting protein 3 isoform 2; C-Jun-amino-terminal kinase-interacting protein 3; C-jun-amino-terminal kinase interacting protein 3; JNK MAP kinase scaffold protein 3; JNK-interacting protein 3; JNK/SAPK-associated protein-1; JNK/stress-activated protein kinase-associated protein 1; homolog of Drosophila Sunday driver 2", "tax_id": 9606, "disease": "neurodevelopmental disorder with or without variable brain abnormalities; NEDBA (MONDO:MONDO:0032755)", "pathway": " (hsa:23162)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10523642;10629060;11214971;11237011;12189133;15302935;15767678;19036714;20068231;21775604;25576301;26811146;28218747;28228285;28832583;29242379;29351928;29437277;29557506;30315122;30410026;30612693;30945334;31154438;31844290;31848261;32157095;32897882;32938616;33537174;33691108;33968037;33981976;34014261;34171305;35013510;35051231;35472243;35561310;35580925;35829703;36010968;36241641;37462082;37938771;38547289", "class_list": "", "function": "Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy., [RefSeq, PubMed]; JIP3 interacts with dynein and kinesin-1 to regulate bidirectional organelle transport., [RefSeq, PubMed]; JIP3 links lysosome transport to regulation of multiple components of the axonal cytoskeleton. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular mechanism of dynein-dynactin complex assembly by LIS1., [RefSeq, PubMed]; Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway., [RefSeq, PubMed]; The JNK-interacting protein (JIP) group of scaffold proteins selectively mediates JNK signaling by aggregating specific components of the MAPK cascade to form a functional JNK signaling module (PubMed:12189133). May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins (By similarity). Promotes neuronal axon elongation in a kinesin- and JNK-dependent manner. Activates cofilin at axon tips via local activation of JNK, thereby regulating filopodial dynamics and enhancing axon elongation. Its binding to kinesin heavy chains (KHC), promotes kinesin-1 motility along microtubules and is essential for axon elongation and regeneration. Regulates cortical neuronal migration by mediating NTRK2/TRKB anterograde axonal transport during brain development (By similarity). Acts as an adapter that bridges the interaction between NTRK2/TRKB and KLC1 and drives NTRK2/TRKB axonal but not dendritic anterograde transport, which is essential for subsequent BDNF-triggered signaling and filopodia formation (PubMed:21775604)., [UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 25, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A2A2B3;A7E2B3;Q96RY4;Q9H4I4;Q9H7P1;Q9NUG0", "ec_number_list": [], "go_molecular_function": "GO:0019894 kinesin binding;GO:0005078 MAP-kinase scaffold activity;GO:0030159 signaling receptor complex adaptor activity;GO:0008432 JUN kinase binding;GO:0031434 mitogen-activated protein kinase kinase binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0030424 axon;GO:0030425 dendrite;GO:0030426 growth cone", "go_biological_process": "GO:0099641 anterograde axonal protein transport;GO:0043066 negative regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0050821 protein stabilization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9UPT6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13637-1", "uniprot_id": [ { "id": "AT1A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P13637", "type": "external" } ], "mass": 111749.0, "length": 1013, "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-3", "gene_name": "ATP1A3", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit alpha-3 isoform 2", "refseq_ac": [ { "id": "NP_001243142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243142", "type": "external" } ], "gene_names_uniprotkb": "ATP1A3", "gene_names_refseq": "AHC2; ATP1A3; CAPOS; DEE99; DYT12; RDP", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit alpha-3; 7.2.2.13; Na(+)/K(+) ATPase alpha(III) subunit; Na(+)/K(+) ATPase alpha-3 subunit; Sodium pump subunit alpha-3", "protein_names_refseq": "ATPase, Na+/K+ transporting, alpha 3 polypeptide; Na(+)/K(+) ATPase alpha(III) subunit; Na(+)/K(+) ATPase alpha-3 subunit; Na+, K+ activated adenosine triphosphatase alpha subunit; Na+/K+ ATPase 3; sodium pump subunit alpha-3; sodium-potassium ATPase catalytic subunit alpha-3; sodium-potassium-ATPase, alpha 3 polypeptide; sodium/potassium-transporting ATPase alpha-3 chain; sodium/potassium-transporting ATPase subunit alpha-3 isoform 2; sodium/potassium-transporting ATPase subunit alpha-3", "tax_id": 9606, "disease": "alternating hemiplegia of childhood (Disease Ontology:DOID:0050635); familial hemiplegic migraine (Disease Ontology:DOID:0060178); developmental and epileptic encephalopathy 99 (Disease Ontology:DOID:0070385); dystonia 12 (Disease Ontology:DOID:0090056); Charcot-Marie-Tooth disease type 2DD (Disease Ontology:DOID:0111558); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); bipolar disorder (Disease Ontology:DOID:3312); nervous system disease (Disease Ontology:DOID:863); cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome (MONDO:MONDO:0011038)", "pathway": " (hsa:478); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 166, "publication_id_list": "10087012;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11237011;11904675;12119109;12832055;12953268;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16115318;16182249;16522641;1656976;16700898;16754674;1693919;17224452;17357072;17486119;17662961;18723824;18995841;19278978;19345671;19351654;19652145;19751721;19878721;20223979;20388710;21108950;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22842232;22850527;22869377;22972900;23196729;23362265;23409136;23481700;23549614;23610579;23641311;24272870;2430951;24392018;24468074;24584101;24631656;24714562;2477373;25418920;25576301;2559024;25645385;25801024;25892735;25994790;26002965;26929215;26992070;26993267;27067231;27452731;27600516;27920218;28063628;28218747;28228285;2834163;2838329;28425720;28514659;28645727;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29508533;2953725;29557506;29632046;29731959;29769354;29786170;29789417;29945920;30201761;3030810;30315122;3036582;30397120;30410026;30524438;30573663;30623173;30626607;30779550;31048504;31154438;31222486;31530632;31848261;31998317;32161166;32357974;33043033;33298915;33592498;33633747;33691108;33717175;33880529;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34433824;35051231;36075933;37482377;37713494;37938771;38243045;38796484;6328127;6832622;7626145;7702581;7711835;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "ATP1A3 as a target for isolating neuron-specific extracellular vesicles from human brain and biofluids., [RefSeq, PubMed]; Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis., [RefSeq, PubMed]; Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features., [RefSeq, PubMed]; Neuron-specific alpha catalytic component of the Na(+)/K(+)-transporting ATPase, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane (PubMed:36075933). Transports 3 Na(+) ions out of the cell and 2 K(+) ions into the cell for each ATP hydrolyze against their electrochemical gradients to maintain ion concentration gradients across the membranes (By similarity). In the brain, ATP1A3 is critical for neuronal cell signaling and for maintenance of electrochemical stability, enabling cell excitation and action potential propagation (PubMed:33880529, PubMed:36075933)., [UniProtKB, PubMed, PubMed, UniProtKB]; Neuronal autosis is Na[+]/K[+]-ATPase alpha 3-dependent and involved in hypoxic-ischemic neuronal death. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2T0;B7Z401;F5H6J6;Q16732;Q16735;Q969K5", "ec_number_list": [ { "id": "7.2.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.13", "type": "external" }, { "id": "7.2.2.19", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.19", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0051087 protein-folding chaperone binding;GO:0001540 amyloid-beta binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0060342 photoreceptor inner segment membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1904646 cellular response to amyloid-beta;GO:1990535 neuron projection maintenance;GO:0006883 intracellular sodium ion homeostasis;GO:0071383 cellular response to steroid hormone stimulus;GO:0030007 intracellular potassium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "P13637-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75822-1", "uniprot_id": [ { "id": "EIF3J_HUMAN", "url": "https://www.uniprot.org/uniprot/O75822", "type": "external" } ], "mass": 29062.0, "length": 258, "protein_name": "Eukaryotic translation initiation factor 3 subunit J", "gene_name": "EIF3J", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit J isoform 2", "refseq_ac": [ { "id": "NP_001271264", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271264", "type": "external" } ], "gene_names_uniprotkb": "EIF3J; EIF3S1; PRO0391", "gene_names_refseq": "EIF3J; EIF3S1; eIF3-alpha; eIF3-p35", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit J; Eukaryotic translation initiation factor 3 subunit 1; eIF-3-alpha; eIF3 p35; eIF3j", "protein_names_refseq": "eukaryotic translation initiation factor 3 subunit J isoform 2; eukaryotic translation initiation factor 3, subunit 1 (alpha, 35kD)", "tax_id": 9606, "disease": "", "pathway": " (hsa:8669); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 97, "publication_id_list": "10364207;10659855;1095581;11018020;1104615;11237011;12493757;12588972;14519125;14567916;14688252;15703437;16322461;16766523;16964243;17081983;17190833;17322306;17322308;17588516;17924679;18491316;1856230;18599441;18669648;18767875;18991276;19413330;19651622;19664994;19690332;20058876;20068231;20305658;21406692;21740066;22223895;23186163;23555621;24397554;24714562;25576301;25849773;25887626;26154972;26992070;27462815;28514659;28649982;28832583;28904123;29242379;29393594;29493099;29557506;29786170;30315122;30429286;31154438;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34087483;34357683;34561969;34591963;34932366;35051231;35580925;37211173;37938771;38665916;40914422;429297;592398;592399;641056;6853548;6901506;7000367;8943342;9045610;9732867;9822659;9857202", "class_list": "", "function": "Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:25849773, PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773)., [UniProtKB, PubMed, PubMed]; EIF3a sustains non-small cell lung cancer stem cell-like properties by promoting YY1-mediated transcriptional activation of beta-catenin., [RefSeq, PubMed]; EIF3j facilitates loading of release factors into the ribosome., [RefSeq, PubMed]; This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DUI3;F5H425;Q9BUD2;Q9H8Q2;Q9UI65", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex;GO:0005852 eukaryotic translation initiation factor 3 complex", "go_biological_process": "GO:0006413 translational initiation;GO:0001732 formation of cytoplasmic translation initiation complex", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "O75822-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75460-1", "uniprot_id": [ { "id": "ERN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75460", "type": "external" } ], "mass": 109735.0, "length": 977, "protein_name": "Serine/threonine-protein kinase/endoribonuclease IRE1", "gene_name": "ERN1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase/endoribonuclease IRE1 precursor", "refseq_ac": [ { "id": "NP_001424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001424", "type": "external" } ], "gene_names_uniprotkb": "ERN1; IRE1", "gene_names_refseq": "ERN1; IRE1P; IRE1a; IRE1; hIRE1p", "protein_names_uniprotkb": "Serine/threonine-protein kinase/endoribonuclease IRE1; Endoplasmic reticulum-to-nucleus signaling 1; IRE1a; Inositol-requiring protein 1; Ire1-alpha; hIRE1p", "protein_names_refseq": "ER to nucleus signalling 1; inositol-requiring 1; inositol-requiring enzyme 1; inositol-requiring protein 1; ire1-alpha; protein kinase/endoribonuclease; serine/threonine-protein kinase/endoribonuclease IRE1 precursor; serine/threonine-protein kinase/endoribonuclease IRE1", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684); oropharynx cancer (Disease Ontology:DOID:8557)", "pathway": " (hsa:2081); (R-HSA-381070)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10835430;11069889;11175748;11237011;11278723;11779464;11897784;12637535;14978097;16973740;17026957;17344846;18242182;19328063;19369195;19538957;19622636;21209280;21317875;21884936;21911379;22424782;23103912;23378536;23481700;24508390;24704861;24715725;25418920;25548167;25576301;25645385;25685256;25692299;25813380;25870107;25892735;25968568;26154972;26375851;26768311;26811146;26929215;26992070;27846572;27862975;28063628;28067262;28128204;28218747;28228285;28514659;28832583;28834231;28904123;29198525;29242379;29311133;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30118681;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31875558;32149426;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35251023;35318648;35580925;36010968;36241641;36284347;36739529;37938771;39002476;39059599;39232130;39468069;9637683", "class_list": "", "function": "5'-tRNA[Gly(GCC)] halves generated by IRE1alpha are linked to the ER stress response. Publication Status: Online-Only, [RefSeq, PubMed]; Disordered regions in the IRE1alpha ER lumenal domain mediate its stress-induced clustering., [RefSeq, PubMed]; GRP78/IRE1 and cGAS/STING pathway crosstalk through CHOP facilitates iodoacetic acid-mediated testosterone decline., [RefSeq, PubMed]; Knockdown of ERN1 disturbs the expression of phosphoserine aminotransferase 1 and related genes in glioblastoma cells., [RefSeq, PubMed]; Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11175748, PubMed:11779464, PubMed:12637535, PubMed:19328063, PubMed:21317875, PubMed:28128204, PubMed:30118681, PubMed:36739529, PubMed:9637683). In unstressed cells, the endoplasmic reticulum luminal domain is maintained in its inactive monomeric state by binding to the endoplasmic reticulum chaperone HSPA5/BiP (PubMed:21317875). Accumulation of misfolded proteins in the endoplasmic reticulum causes release of HSPA5/BiP, allowing the luminal domain to homodimerize, promoting autophosphorylation of the kinase domain and subsequent activation of the endoribonuclease activity (PubMed:21317875). The endoribonuclease activity is specific for XBP1 mRNA and excises 26 nucleotides from XBP1 mRNA (PubMed:11779464, PubMed:21317875, PubMed:24508390). The resulting spliced transcript of XBP1 encodes a transcriptional activator protein that up-regulates expression of UPR target genes (PubMed:11779464, PubMed:21317875, PubMed:24508390). Acts as an upstream signal for ER stress-induced GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane by modulating the expression and localization of SEC16A (PubMed:21884936, PubMed:28067262)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1L457;A8K8N8;A8MXS7;Q59EE2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0016787 hydrolase activity", "go_cellular_component": "GO:1990332 Ire1 complex;GO:1990604 IRE1-TRAF2-ASK1 complex;GO:1990630 IRE1-RACK1-PP2A complex;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0033120 positive regulation of RNA splicing;GO:0070054 mRNA splicing, via endonucleolytic cleavage and ligation;GO:1901142 insulin metabolic process;GO:0006351 DNA-templated transcription;GO:0006468 protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "O75460-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06734-1", "uniprot_id": [ { "id": "FCER2_HUMAN", "url": "https://www.uniprot.org/uniprot/P06734", "type": "external" } ], "mass": 36469.0, "length": 321, "protein_name": "Low affinity immunoglobulin epsilon Fc receptor", "gene_name": "FCER2", "organism": "Human", "refseq_name": "low affinity immunoglobulin epsilon Fc receptor isoform b", "refseq_ac": [ { "id": "NP_001193948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193948", "type": "external" } ], "gene_names_uniprotkb": "FCER2; CD23A; CLEC4J; FCE2; IGEBF", "gene_names_refseq": "BLAST-2; CD23A; CD23; CLEC4J; FCE2; FCER2; FCErII; IGEBF", "protein_names_uniprotkb": "Low affinity immunoglobulin epsilon Fc receptor; BLAST-2; C-type lectin domain family 4 member J; Fc-epsilon-RII; Immunoglobulin E-binding factor; Lymphocyte IgE receptor", "protein_names_refseq": "C-type lectin domain family 4, member J; CD23 antigen; Fc fragment of IgE receptor II; Fc fragment of IgE, low affinity II, receptor for (CD23); FcepsilonRII; fc-epsilon-RII; immunoglobulin E-binding factor; immunoglobulin epsilon-chain; low affinity immunoglobulin epsilon Fc receptor isoform b; low affinity immunoglobulin epsilon Fc receptor; lymphocyte IgE receptor", "tax_id": 9606, "disease": "polycystic ovary syndrome (Disease Ontology:DOID:11612); Huntington's disease (Disease Ontology:DOID:12858); hypothyroidism (Disease Ontology:DOID:1459); anxiety disorder (Disease Ontology:DOID:2030)", "pathway": " (hsa:2208); (R-HSA-2197563); (R-HSA-6783783); (R-HSA-6785807)", "pathway_count": 4, "publication_count": 200, "publication_id_list": "10023775;10092818;10219247;10369418;10415057;10433356;10510379;10586089;10867011;11058569;11084045;11101851;11104795;11120780;11237011;11278437;11278729;11356008;11404481;11463377;11866432;11960372;11986231;12070780;12223527;12242343;12379312;12554859;12600988;12626585;12731041;12832402;1386409;1417742;1460289;14634100;14712222;15116091;15261459;15584925;15805299;15843555;15869882;15919823;15950906;16007214;16048438;16107692;16172256;16205632;16236134;16397018;16451196;16510571;16540365;16606674;16765898;16982608;17284587;17389606;17427945;17458857;17572495;18243101;18292551;18353781;18447642;18512783;18644974;18724371;19124156;19185846;19397496;1940369;1940799;20105447;20145033;20493732;21102457;21252155;2167225;21689689;21730069;21937440;21994466;22046235;22205702;22383755;22615937;22693070;22851691;23086340;23124025;23172665;23424103;23455323;23555662;23967200;24097101;24743777;25234944;25502872;25505266;26154972;27846572;28228285;28467828;2877743;28832583;28871256;29242379;29317506;2949326;29508533;29557506;29632046;2972386;29763855;3034567;30459171;30573663;30626607;31217245;31844290;32350084;32387766;32502341;32983136;33043033;33392160;33633747;33936100;34075727;34078123;34357683;34433824;34932366;35051231;35154160;36445014;37453717;37678868;7499850;7510216;7512027;7512451;7516408;7529288;7543512;7544003;7593617;7594602;7684412;7687627;7795521;7796300;7865457;7898939;7902377;7907877;8063757;8085155;8102388;8120391;8142907;8163946;8186324;8301137;8537680;8602263;8606061;8621622;8662928;8663118;8668165;8734788;8742066;8745401;8797861;8816495;8871669;8897595;8910398;8921438;8946277;9013879;9013939;9119530;9312047;9354687;9449724;9550426;9651359;9723655;9736340;9794440;9822675;9836587;9874564;9918218", "class_list": "glycogene", "function": "IgG memory B cells expressing IL4R and FCER2 are associated with atopic diseases., [RefSeq, PubMed]; In humans, in contrast to what was previously found in mice, intestinal cells coexpress CD23a and CD23b, and the two splice forms show different localizations in polarized cells., [RefSeq, PubMed]; Low-affinity receptor for immunoglobulin E (IgE) and CR2/CD21. Has essential roles in the regulation of IgE production and in the differentiation of B cells. On B cells, initiates IgE-dependent antigen uptake and presentation to T cells (PubMed:2167225). On macrophages, upon IgE binding and antigen cross-linking induces intracellular killing of parasites through activation of L-Arginine-nitric oxide pathway (PubMed:7544003)., [UniProtKB, PubMed, PubMed]; Pax-5 is a key regulator of the B-cell-restricted expression of the CD23a isoform., [RefSeq, PubMed]; Promoter is a target for NF-AT transcription factors in B-CLL cells, [RefSeq, PubMed]; Role of CD23 Activated ERK Signaling Pathway in the Pathogenesis of Eosinophilic Chronic Sinusitis with Nasal Polyps., [RefSeq, PubMed]; The protein encoded by this gene is a B-cell specific antigen, and a low-affinity receptor for IgE. It has essential roles in B cell growth and differentiation, and the regulation of IgE production. This protein also exists as a soluble secreted form, then functioning as a potent mitogenic growth factor. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]., [RefSeq]; Upstream regions of the CD23a and CD23b isoform coding sequences show distinct sensitivities to agents which induce CD23 protein expression at the plasma membrane, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 505, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019863 IgE binding;GO:0002020 protease binding;GO:0005178 integrin binding;GO:0046872 metal ion binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0010628 positive regulation of gene expression;GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis;GO:0042742 defense response to bacterium;GO:0042116 macrophage activation", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "P06734-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15408-1", "uniprot_id": [ { "id": "FOSL2_HUMAN", "url": "https://www.uniprot.org/uniprot/P15408", "type": "external" } ], "mass": 35193.0, "length": 326, "protein_name": "Fos-related antigen 2", "gene_name": "FOSL2", "organism": "Human", "refseq_name": "fos-related antigen 2", "refseq_ac": [ { "id": "NP_005244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005244", "type": "external" } ], "gene_names_uniprotkb": "FOSL2; FRA2", "gene_names_refseq": "ACED; FOSL2; FRA2", "protein_names_uniprotkb": "Fos-related antigen 2; FRA-2", "protein_names_refseq": "FOS like 2, AP-1 trancription factor subunit; FOS like antigen 2; FRA-2; fos-related antigen 2", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); autism spectrum disorder (Disease Ontology:DOID:0060041); epilepsy (Disease Ontology:DOID:1826); colon adenocarcinoma (Disease Ontology:DOID:234); lung non-small cell carcinoma (Disease Ontology:DOID:3908); systemic scleroderma (Disease Ontology:DOID:418); renal carcinoma (Disease Ontology:DOID:4451); schizophrenia (Disease Ontology:DOID:5419); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); nasopharynx carcinoma (Disease Ontology:DOID:9261); aplasia cutis-enamel dysplasia syndrome (MONDO:MONDO:0968978)", "pathway": " (hsa:2355)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;15302935;17081983;17322306;18212344;18452278;18669648;19415658;19651622;20058876;20068231;20112406;2107490;21406692;23186163;23807221;25114211;25218447;25547114;25576301;25755297;25772364;26992070;27600516;28832583;28834231;29242379;29351928;29393594;29485866;29786170;30779550;31844290;32157095;32161166;32387766;32488085;32897882;32938616;32983136;33123756;33214551;33392160;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34405274;34725712;35051231;36010968;36197437;36215666;37370246;37380804;38104183;38665916;39073688;39531497;40596516", "class_list": "", "function": "Chromatin accessibility uncovers KRAS-driven FOSL2 promoting pancreatic ductal adenocarcinoma progression through up-regulation of CCL28., [RefSeq, PubMed]; Controls osteoclast survival and size (By similarity). As a dimer with JUN, activates LIF transcription (By similarity). Activates CEBPB transcription in PGE2-activated osteoblasts (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; FOSL2-mediated transcription of ISG20 induces M2 polarization of macrophages and enhances tumorigenic ability of glioblastoma cells., [RefSeq, PubMed]; LncRNA ITGB2-AS1 promotes cisplatin resistance of non-small cell lung cancer by inhibiting ferroptosis via activating the FOSL2/NAMPT axis., [RefSeq, PubMed]; Role of Fra-2 in cancer. Review article, [RefSeq, PubMed]; The Fos gene family consists of 4 members: FOS, FOSB, FOSL1, and FOSL2. These genes encode leucine zipper proteins that can dimerize with proteins of the JUN family, thereby forming the transcription factor complex AP-1. As such, the FOS proteins have been implicated as regulators of cell proliferation, differentiation, and transformation. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 14, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B2RD58;B3KP27;B4DYV4;Q6FG46", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035976 transcription factor AP-1 complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0008219 cell death;GO:0032905 transforming growth factor beta1 production", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P15408-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15104-1", "uniprot_id": [ { "id": "GLNA_HUMAN", "url": "https://www.uniprot.org/uniprot/P15104", "type": "external" } ], "mass": 42064.0, "length": 373, "protein_name": "Glutamine synthetase", "gene_name": "GLUL", "organism": "Human", "refseq_name": "glutamine synthetase", "refseq_ac": [ { "id": "NP_001028216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028216", "type": "external" } ], "gene_names_uniprotkb": "GLUL; GLNS", "gene_names_refseq": "DEE116; GLNS; GLUL; GS; PIG43; PIG59", "protein_names_uniprotkb": "Glutamine synthetase; 2.3.1.225; 6.3.1.2; GS; Glutamate--ammonia ligase; Palmitoyltransferase GLUL", "protein_names_refseq": "cell proliferation-inducing protein 59; glutamate decarboxylase; glutamine synthase; glutamine synthetase; palmitoyltransferase GLUL; proliferation-inducing protein 43", "tax_id": 9606, "disease": "congenital glutamine deficiency (Disease Ontology:DOID:0070544); developmental and epileptic encephalopathy 116 (Disease Ontology:DOID:0070545); Alzheimer's disease (Disease Ontology:DOID:10652); primary open angle glaucoma (Disease Ontology:DOID:1070); heart disease (Disease Ontology:DOID:114); Huntington's disease (Disease Ontology:DOID:12858); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); liver disease (Disease Ontology:DOID:409); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); diabetic retinopathy (Disease Ontology:DOID:8947); amino acid metabolic disorder (Disease Ontology:DOID:9252); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2752); (R-HSA-210455); (R-HSA-8964539)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "11237011;11903050;12054821;12387715;14730707;15364907;16267323;16516348;16730026;1681907;1737786;18005987;18555765;18662667;19338303;19531498;19648921;20657015;21654843;22898188;23024808;23186163;23719902;24275569;24366607;25418920;25576301;25645385;25865492;26154972;26375851;26711351;26811146;26902786;26990986;26992070;2722838;27600516;27726376;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28855257;2888076;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30158707;30315122;30410026;30429286;30524438;31154438;31422819;31530632;31611695;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32983136;33043033;33123756;33298915;33392160;33592498;33691108;33912179;33968037;34078123;34087483;34171305;34229054;34509645;34561969;35051231;35318648;35580925;36010968;36031420;36241641;36284347;36289327;37938771;37979911;38086219;38579670;39477285;4052435;429360;6819292;7883047;7909780;8294935;9514741", "class_list": "", "function": "Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase., [RefSeq, PubMed]; Glutamine synthetase and hepatocellular carcinoma., [RefSeq, PubMed]; Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine (PubMed:16267323, PubMed:30158707, PubMed:36289327). Its role depends on tissue localization: in the brain, it regulates the levels of toxic ammonia and converts neurotoxic glutamate to harmless glutamine, whereas in the liver, it is one of the enzymes responsible for the removal of ammonia (By similarity). Plays a key role in ammonium detoxification during erythropoiesis: the glutamine synthetase activity is required to remove ammonium generated by porphobilinogen deaminase (HMBS) during heme biosynthesis to prevent ammonium accumulation and oxidative stress (By similarity). Essential for proliferation of fetal skin fibroblasts (PubMed:18662667). Independently of its glutamine synthetase activity, required for endothelial cell migration during vascular development: acts by regulating membrane localization and activation of the GTPase RHOJ, possibly by promoting RHOJ palmitoylation (PubMed:30158707). May act as a palmitoyltransferase for RHOJ: able to autopalmitoylate and then transfer the palmitoyl group to RHOJ (PubMed:30158707). Plays a role in ribosomal 40S subunit biogenesis (PubMed:26711351). Through the interaction with BEST2, inhibits BEST2 channel activity by affecting the gating at the aperture in the absence of intracellular L-glutamate, but sensitizes BEST2 to intracellular L-glutamate, which promotes the opening of BEST2 and thus relieves its inhibitory effect on BEST2 (PubMed:36289327)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Leat-associated seizures the possible role of EAAT2, pyruvate carboxylase and glutamine synthetase., [RefSeq, PubMed]; Role of Glutamine Synthetase on Vascular Permeability in Gliomas., [RefSeq, PubMed]; The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q499Y9;Q5T9Z1;Q7Z3W4;Q8IZ17", "ec_number_list": [ { "id": "2.3.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.225", "type": "external" }, { "id": "6.3.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.1.2", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0004356 glutamine synthetase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0008283 cell population proliferation;GO:0042254 ribosome biogenesis;GO:0045648 positive regulation of erythrocyte differentiation;GO:0097275 intracellular ammonium homeostasis", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "P15104-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14749-1", "uniprot_id": [ { "id": "GNMT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14749", "type": "external" } ], "mass": 32742.0, "length": 295, "protein_name": "Glycine N-methyltransferase", "gene_name": "GNMT", "organism": "Human", "refseq_name": "glycine N-methyltransferase isoform 2", "refseq_ac": [ { "id": "NP_001305794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305794", "type": "external" } ], "gene_names_uniprotkb": "GNMT", "gene_names_refseq": "GNMT; HEL-S-182mP", "protein_names_uniprotkb": "Glycine N-methyltransferase; 2.1.1.20", "protein_names_refseq": "epididymis secretory sperm binding protein Li 182mP; glycine N-methyltransferase isoform 2", "tax_id": 9606, "disease": "glycine N-methyltransferase deficiency (Disease Ontology:DOID:0111037); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:27232); (R-HSA-2408508); (R-HSA-389661); (R-HSA-9925561)", "pathway_count": 4, "publication_count": 61, "publication_id_list": "10484776;10524214;10777549;10843803;10978532;11578145;11810299;12697024;12865426;12899834;13681368;13681370;14170323;14651980;14739680;1483038;15340920;15802217;1601857;16037612;16444005;16616139;1703535;17088322;1711890;17451884;17660255;17669354;18215067;19352492;19439180;20018850;20164179;20383543;20603179;2158891;21998747;22516612;2339986;2363689;25697095;25747990;26858947;2722853;29557506;30779550;31844290;3416563;35008908;35051231;36602057;37047834;38003554;500817;6250440;6456763;7305945;8281755;9163533;9495250;9820813", "class_list": "", "function": "Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy), a reaction regulated by the binding of 5-methyltetrahydrofolate. Plays an important role in the regulation of methyl group metabolism by regulating the ratio between S-adenosyl-L-methionine and S-adenosyl-L-homocysteine., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Chemical Biopsy for GNMT as Noninvasive and Tumorigenesis-Relevant Diagnosis of Liver Cancer., [RefSeq, PubMed]; Downregulation of Methionine Cycle Genes MAT1A and GNMT Enriches Protein-Associated Translation Process and Worsens Hepatocellular Carcinoma Prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; ERVK13-1/miR-873-5p/GNMT Axis Promotes Metastatic Potential in Human Bladder Cancer though Sarcosine Production. Publication Status: Online-Only, [RefSeq, PubMed]; Folic Acid Ameliorates Renal Injury in Experimental Obstructive Nephropathy: Role of Glycine N-Methyltransferase. Publication Status: Online-Only, [RefSeq, PubMed]; Study identified a GNMT transcriptional start site at the 14th position upstream of the ATG codon; results indicate binding of the nuclear factor-Y (NF-Y) transcription factor to the CCAAT box (-71/-67) of the GNMT gene., [RefSeq, PubMed]; The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T8W2;Q9NNZ1;Q9NS24", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "3.4.21.70", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.70", "type": "external" }, { "id": "3.4.17.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.1", "type": "external" }, { "id": "3.4.17.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.2", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "2.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.1", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.17.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.15", "type": "external" }, { "id": "2.1.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.8", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.20", "type": "external" }, { "id": "3.4.21.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.2", "type": "external" } ], "go_molecular_function": "GO:0017174 glycine N-methyltransferase activity;GO:0042802 identical protein binding;GO:0005542 folic acid binding;GO:1904047 S-adenosyl-L-methionine binding;GO:0016594 glycine binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006730 one-carbon metabolic process;GO:0032259 methylation;GO:0046498 S-adenosylhomocysteine metabolic process;GO:0006111 regulation of gluconeogenesis", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q14749-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22001-1", "uniprot_id": [ { "id": "KCNA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P22001", "type": "external" } ], "mass": 63842.0, "length": 575, "protein_name": "Potassium voltage-gated channel subfamily A member 3", "gene_name": "KCNA3", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily A member 3", "refseq_ac": [ { "id": "NP_002223", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002223", "type": "external" } ], "gene_names_uniprotkb": "KCNA3; HGK5", "gene_names_refseq": "HGK5; HLK3; HPCN3; HUKIII; KCNA3; KV1.3; MK3; PCN3", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily A member 3; HGK5; HLK3; HPCN3; Voltage-gated K(+) channel HuKIII; Voltage-gated potassium channel subunit Kv1.3", "protein_names_refseq": "RP11-284N8.3; potassium channel 3; potassium channel, voltage gated shaker related subfamily A, member 3; potassium voltage-gated channel subfamily A member 3; potassium voltage-gated channel, shaker-related subfamily, member 3; type n potassium channel; voltage-gated K(+) channel HuKIII; voltage-gated potassium channel protein Kv1.3; voltage-gated potassium channel subunit Kv1.3", "tax_id": 9606, "disease": "episodic ataxia type 1 (Disease Ontology:DOID:0050989); hypertension (Disease Ontology:DOID:10763); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:3738); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11812778;1373731;1547020;19166614;1986382;20393197;21231794;24190977;28218747;28832583;28904123;29242379;32350084;32387766;32502341;32938616;33392160;33912179;34357683;35328733;35788586;36501016;36852591;37938771;37964487;38542732;7829094", "class_list": "", "function": "De novo variants in KCNA3 cause developmental and epileptic encephalopathy., [RefSeq, PubMed]; Effect of the rs2821557 Polymorphism of the Human Kv1.3 Gene on Olfactory Function and BMI in Different Age Groups. Publication Status: Online-Only, [RefSeq, PubMed]; Lacks voltage-gated potassium channel activity., [UniProtKB, PubMed]; Mediates the voltage-dependent potassium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a potassium-selective channel through which potassium ions may pass in accordance with their electrochemical gradient., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Olfactory Sensitivity Is Associated with Body Mass Index and Polymorphism in the Voltage-Gated Potassium Channels Kv1.3. Publication Status: Online-Only, [RefSeq, PubMed]; Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]., [RefSeq]; Role of C-Terminal Domain and Membrane Potential in the Mobility of Kv1.3 Channels in Immune Synapse Forming T Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Structures of the T cell potassium channel Kv1.3 with immunoglobulin modulators. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RA23;Q5VWN2;Q6P2D3", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0005244 voltage-gated monoatomic ion channel activity;GO:0005249 voltage-gated potassium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0048471 perinuclear region of cytoplasm;GO:0008076 voltage-gated potassium channel complex", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0006813 potassium ion transport;GO:0071805 potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P22001-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14777-1", "uniprot_id": [ { "id": "NDC80_HUMAN", "url": "https://www.uniprot.org/uniprot/O14777", "type": "external" } ], "mass": 73913.0, "length": 642, "protein_name": "Kinetochore protein NDC80 homolog", "gene_name": "NDC80", "organism": "Human", "refseq_name": "kinetochore protein NDC80 homolog", "refseq_ac": [ { "id": "NP_006092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006092", "type": "external" } ], "gene_names_uniprotkb": "NDC80; HEC1; HEC; KNTC2", "gene_names_refseq": "HEC1; HEC; HsHec1; KNTC2; NDC80; TID3; hsNDC80", "protein_names_uniprotkb": "Kinetochore protein NDC80 homolog; Highly expressed in cancer protein; HsHec1; Kinetochore protein Hec1; Kinetochore-associated protein 2; Retinoblastoma-associated protein HEC", "protein_names_refseq": "NDC80 homolog, kinetochore complex component; NDC80 kinetochore complex component homolog; highly expressed in cancer protein; highly expressed in cancer, rich in leucine heptad repeats; kinetochore associated 2; kinetochore protein Hec1; kinetochore protein NDC80 homolog; kinetochore-associated protein 2; retinoblastoma-associated protein HEC", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); cancer (Disease Ontology:DOID:162); lung non-small cell carcinoma (Disease Ontology:DOID:3908); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10403); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 8, "publication_count": 208, "publication_id_list": "10409732;10411507;10600384;10678165;10779342;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12351790;12386167;12429848;12577064;12679384;12732141;12805219;12852857;14602875;14654001;14699129;14730319;14978040;15006353;15062103;15085137;15133482;15235793;15239953;15339662;15502821;15507212;15548592;15713649;15723797;15737063;15824131;15864301;15866170;15944396;15961401;15964272;16292343;16439214;16541025;16565220;16622419;16622420;16682347;16732327;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;18001770;18097444;18297113;18716626;18923426;19007248;19350017;19664994;19691289;19696148;19815554;19965387;20030946;20068231;20101212;20471944;20591975;21111234;21148482;21397845;21576392;21832156;21868368;21878504;21987589;22094460;22275430;22581055;22608513;22706990;22790947;22885700;23085020;23186163;23222643;23481700;23801653;23891108;24662830;24714562;24715725;24914801;25418920;25576301;25645385;25740311;25743205;25789526;25892735;26154972;26375851;26595804;26728094;26992070;27156448;27600516;27764815;27846572;27920218;28218747;28228285;28411811;28832583;28834231;28860189;28904123;29142109;29187526;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29769354;29786170;29789417;30315122;30409912;30410026;30524438;30779550;30833945;31154438;31222486;31409757;31530632;31844290;31848261;31937595;31998317;32027339;32157095;32161166;32350084;32357974;32387766;32401635;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33377866;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;33988677;34087483;34171305;34211107;34260926;34405274;34509645;34561969;34932366;35051231;35251023;35318648;35346500;35494241;35561310;35580925;35638575;36010968;36215666;36241641;36284347;36635757;40914422;9295362;9315664;9649308;9649503;9892021", "class_list": "", "function": "Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules. Plays a role in chromosome congression and is essential for the end-on attachment of the kinetochores to spindle microtubules., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Chromosome oscillation promotes Aurora A-dependent Hec1 phosphorylation and mitotic fidelity., [RefSeq, PubMed]; CircNDC80 promotes glioblastoma multiforme tumorigenesis via the miR-139-5p/ECE1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; NDC80 Enhances Cisplatin-resistance in Triple-negative Breast Cancer. Erratum:[Arch Med Res. 2023 Jul;54(5):102833. doi: 10.1016/j.arcmed.2023.05.001. PMID: 37193619], [RefSeq, PubMed]; This gene encodes a component of the NDC80 kinetochore complex. The encoded protein consists of an N-terminal microtubule binding domain and a C-terminal coiled-coiled domain that interacts with other components of the complex. This protein functions to organize and stabilize microtubule-kinetochore interactions and is required for proper chromosome segregation. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJX2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0030332 cyclin binding;GO:0140483 kinetochore adaptor activity", "go_cellular_component": "GO:0031262 Ndc80 complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0051310 metaphase chromosome alignment;GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0000278 mitotic cell cycle;GO:0007059 chromosome segregation;GO:0008608 attachment of spindle microtubules to kinetochore", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "O14777-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96P20-1", "uniprot_id": [ { "id": "NLRP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96P20", "type": "external" } ], "mass": 118173.0, "length": 1036, "protein_name": "NACHT, LRR and PYD domains-containing protein 3", "gene_name": "NLRP3", "organism": "Human", "refseq_name": "NACHT, LRR and PYD domains-containing protein 3 isoform e", "refseq_ac": [ { "id": "NP_001230062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230062", "type": "external" } ], "gene_names_uniprotkb": "NLRP3; C1orf7; CIAS1; NALP3; PYPAF1", "gene_names_refseq": "AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1; DFNA34; FCAS1; FCAS; FCU; KEFH; MWS; NALP3; NLRP3; PYPAF1", "protein_names_uniprotkb": "NACHT, LRR and PYD domains-containing protein 3; 3.6.4.-; Angiotensin/vasopressin receptor AII/AVP-like; CLR1.1; Caterpiller protein 1.1; Cold-induced autoinflammatory syndrome 1 protein; Cryopyrin; PYRIN-containing APAF1-like protein 1", "protein_names_refseq": "NACHT domain-, leucine-rich repeat-, and PYD-containing protein 3; NACHT, LRR and PYD containing protein 3; NACHT, LRR and PYD domains-containing protein 3 isoform e; NACHT, LRR and PYD domains-containing protein 3; PYRIN-containing APAF1-like protein 1; caterpiller protein 1.1; cold autoinflammatory syndrome 1 protein; cold-induced autoinflammatory syndrome 1 protein; cryopyrin, NACHT, LRR and PYD domains - containing protein 3; cryopyrin; deafness, autosomal dominant 34; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3", "tax_id": 9606, "disease": "Muckle-Wells syndrome (Disease Ontology:DOID:0050854); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); autosomal dominant nonsyndromic deafness 34 (Disease Ontology:DOID:0080270); CINCA Syndrome (Disease Ontology:DOID:0090029); familial cold autoinflammatory syndrome (Disease Ontology:DOID:0090061); familial cold autoinflammatory syndrome 1 (Disease Ontology:DOID:0090062); alcoholic hepatitis (Disease Ontology:DOID:12351); urticaria (Disease Ontology:DOID:1555); myocardial infarction (Disease Ontology:DOID:5844); steatotic liver disease (Disease Ontology:DOID:9452); keratitis fugax hereditaria (MONDO:MONDO:0007849)", "pathway": " (hsa:114548); (R-HSA-5689901); (R-HSA-844456); (R-HSA-9660826); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9707564)", "pathway_count": 7, "publication_count": 246, "publication_id_list": "10383417;11157473;11237011;11313357;11498534;11687797;11786556;11967258;11992256;12019269;12032915;12191486;12353037;12355493;12483741;12522564;12615073;12692549;12759408;12969439;14595024;14630794;14662828;14761955;15030775;15208624;15231984;15334500;15593220;16407889;16568091;17035307;17036048;17164409;17264172;17270291;17284928;17349957;17412287;17431422;17435760;17483456;17596301;17603038;17703304;17707232;17761676;17907925;18403674;18604214;18758443;19202061;19380580;19398035;19414800;19570822;19690164;19968714;20023662;20303873;20929863;21124315;2182768;21880711;22046132;22253733;22312431;22427940;22461501;22801494;22843550;22941947;22948162;23229815;23246432;23305783;23430110;23483519;23582325;23809162;23817414;23871209;23878142;23955712;24008845;24509444;24517500;24531343;24622840;24623131;24630722;24854014;24952504;25135833;25354325;25418920;25538194;25686105;25764917;25880248;25907116;26037928;26116704;26154972;26320399;26347139;26378163;26549800;26929215;26992070;27043286;27164085;27203180;27432880;27543614;27929086;28148787;28218747;28465465;28656979;28698372;28716882;28847925;28904123;28943315;29294448;29366613;29393594;29557506;29605689;29632046;29712950;30185776;30315122;30487600;30612879;31034780;31086327;31086329;31154438;31189953;31231549;31850239;32353859;32357974;32387766;32428392;32488085;32589897;32726803;32728199;32778128;32843625;32929041;32938616;32953130;32979938;32983094;33024073;33060197;33097660;33110251;33141586;33231615;33298915;33349665;33360543;33372174;33372854;33375031;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33968037;33989516;33990585;34021074;34054808;34084167;34110168;34133077;34166398;34211107;34239064;3427020;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34512673;34524838;34554188;34561969;34597346;34615873;34687713;3475708;35051231;35102342;35114687;35254907;35559676;35580925;35643212;36142182;36215666;36442502;36586411;37051252;37566188;37575012;38038745;38092000;39173637;39225180;39333773;39390397;39425874;39468189;39892583;40250624;40450990;450099;6094553;9023774;9989503", "class_list": "", "function": "A single heterozygous missense mutation (T1058C=L353P) in exon 3 of CIAS1 in all four families that is responsible for the large majority of FCAS cases, [RefSeq, PubMed]; Association of polymorphism of NLRP3, ICAM-1, PTPN22, INS genes in childhood onset type 1 diabetes in a Pakistani population. Publication Status: Online-Only, [RefSeq, PubMed]; Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes., [RefSeq, PubMed]; FTO mediates the diabetic kidney disease progression through regulating the m[6]A modification of NLRP3. Publication Status: Online-Only, [RefSeq, PubMed]; Independently of inflammasome activation, regulates the differentiation of T helper 2 (Th2) cells and has a role in Th2 cell-dependent asthma and tumor growth (By similarity). During Th2 differentiation, required for optimal IRF4 binding to IL4 promoter and for IRF4-dependent IL4 transcription (By similarity). Binds to the consensus DNA sequence 5'-GRRGGNRGAG-3' (By similarity). May also participate in the transcription of IL5, IL13, GATA3, CCR3, CCR4 and MAF (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Sensor component of the NLRP3 inflammasome, which mediates inflammasome activation in response to defects in membrane integrity, leading to secretion of inflammatory cytokines IL1B and IL18 and pyroptosis (PubMed:16407889, PubMed:18403674, PubMed:18604214, PubMed:23582325, PubMed:25686105, PubMed:27929086, PubMed:28656979, PubMed:28847925, PubMed:30487600, PubMed:30612879, PubMed:31086327, PubMed:31086329, PubMed:31189953, PubMed:33231615, PubMed:34133077, PubMed:34341353, PubMed:34512673, PubMed:36442502, PubMed:40250624, PubMed:40450990). In response to pathogens and other damage-associated signals that affect the integrity of membranes, initiates the formation of the inflammasome polymeric complex composed of NLRP3, CASP1 and PYCARD/ASC (PubMed:16407889, PubMed:18403674, PubMed:27432880, PubMed:28847925, PubMed:31189953, PubMed:33231615, PubMed:34133077, PubMed:34341353, PubMed:36142182, PubMed:36442502). Recruitment of pro-caspase-1 (proCASP1) to the NLRP3 inflammasome promotes caspase-1 (CASP1) activation, which subsequently cleaves and activates inflammatory cytokines IL1B and IL18 and gasdermin-D (GSDMD), promoting cytokine secretion and pyroptosis (PubMed:23582325, PubMed:28847925, PubMed:31189953, PubMed:33231615, PubMed:34133077, PubMed:34341353). Activation of NLRP3 inflammasome is also required for HMGB1 secretion; stimulating inflammatory responses (PubMed:22801494). Involved in the homeostatic wound healing response to tissue injury, a multistep cascade that guides neutrophil migration to necrotic sites while avoiding collateral damage of healthy tissues. ATP released from necrotic cells triggers activation of NLRP3 inflammasome through P2RX7 signaling leading to neutrophil adhesion to the vascular endothelium close to the injury site (By similarity). Under resting conditions, ADP-bound NLRP3 is autoinhibited (PubMed:35114687). NLRP3 activation stimuli include extracellular ATP, nigericin, reactive oxygen species, crystals of monosodium urate or cholesterol, amyloid-beta fibers, environmental or industrial particles and nanoparticles, such as asbestos, silica, aluminum salts, cytosolic dsRNA, etc (PubMed:16407889, PubMed:18403674, PubMed:18604214, PubMed:19414800, PubMed:23871209). Almost all stimuli trigger intracellular K(+) efflux (By similarity). These stimuli lead to membrane perturbation and activation of NLRP3 (By similarity). Upon activation, NLRP3 is transported to microtubule organizing center (MTOC), where it is unlocked by NEK7, leading to its relocalization to dispersed trans-Golgi network (dTGN) vesicle membranes and formation of an active inflammasome complex (PubMed:36442502, PubMed:39173637). Associates with dTGN vesicle membranes by binding to phosphatidylinositol 4-phosphate (PtdIns4P) (PubMed:30487600, PubMed:34554188). Shows ATPase activity (PubMed:17483456)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TNF-a induces mitochondrial dysfunction to drive NLRP3/Caspase-1/GSDMD-mediated pyroptosis in MCF-7 cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a pyrin-like protein containing a pyrin domain, a nucleotide-binding site (NBS) domain, and a leucine-rich repeat (LRR) motif. This protein interacts with the apoptosis-associated speck-like protein PYCARD/ASC, which contains a caspase recruitment domain, and is a member of the NLRP3 inflammasome complex. This complex functions as an upstream activator of NF-kappaB signaling, and it plays a role in the regulation of inflammation, the immune response, and apoptosis. The SARS-CoV 3a protein, a transmembrane pore-forming viroporin, has been shown to activate the NLRP3 inflammasome via the formation of ion channels in macrophages. Mutations in this gene are associated with familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological cutaneous and articular (CINCA) syndrome, neonatal-onset multisystem inflammatory disease (NOMID), keratoendotheliitis fugax hereditarian, and deafness, autosomal dominant 34, with or without inflammation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. Alternative 5' UTR structures are suggested by available data; however, insufficient evidence is available to determine if all of the represented 5' UTR splice patterns are biologically valid. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 82, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R5Q0;B2RC97;B7ZKS9;B7ZKT2;B7ZKT3;O75434;Q17RS2;Q59H68;Q5JQS8;Q5JQS9;Q6TG35;Q8TCW0;Q8TEU9;Q8WXH9", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042834 peptidoglycan binding;GO:0005524 ATP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0002221 pattern recognition receptor signaling pathway;GO:0009595 detection of biotic stimulus;GO:0044546 NLRP3 inflammasome complex assembly;GO:0007231 osmosensory signaling pathway;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "Q96P20-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53EL6-1", "uniprot_id": [ { "id": "PDCD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53EL6", "type": "external" } ], "mass": 51735.0, "length": 469, "protein_name": "Programmed cell death protein 4", "gene_name": "PDCD4", "organism": "Human", "refseq_name": "programmed cell death protein 4 isoform 1", "refseq_ac": [ { "id": "NP_055271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055271", "type": "external" } ], "gene_names_uniprotkb": "PDCD4; H731", "gene_names_refseq": "H731; PDCD4", "protein_names_uniprotkb": "Programmed cell death protein 4; Neoplastic transformation inhibitor protein; Nuclear antigen H731-like; Protein 197/15a", "protein_names_refseq": "neoplastic transformation inhibitor protein; nuclear antigen H731; programmed cell death 4 (neoplastic transformation inhibitor); programmed cell death protein 4 isoform 1; programmed cell death protein 4; protein 197/15a", "tax_id": 9606, "disease": "skin melanoma (Disease Ontology:DOID:8923)", "pathway": " (hsa:27250); (R-HSA-8950505)", "pathway_count": 2, "publication_count": 149, "publication_id_list": "10632927;11237011;12054647;12898601;15144186;15592455;16038020;16357133;16449643;16959974;16964243;17053147;17081983;17287340;17377532;18212344;18296639;18296647;18669648;18767875;19007248;19153607;19204291;19413330;19415658;19651622;19664994;19664995;20058876;20068231;20166139;20661426;21209280;21406692;22424782;22431522;22586265;22645359;23186163;23301498;23481700;24275569;24334270;24366607;24714562;24715725;25002506;25576301;25645385;25880248;25882842;26024233;26154972;26375851;26728094;26992070;27028868;27600516;27846572;27862975;27869121;27920218;28063628;28218747;28228285;28446606;28510447;28514659;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30760284;30779550;30784271;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31952347;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32804243;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38632092;38640981;39117603;39190024;39894887;40307207;40914422;9759869", "class_list": "", "function": "Human tumor suppressor protein Pdcd4 binds at the mRNA entry channel in the 40S small ribosomal subunit. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits translation initiation and cap-dependent translation. May excert its function by hindering the interaction between EIF4A1 and EIF4G. Inhibits the helicase activity of EIF4A. Modulates the activation of JUN kinase. Down-regulates the expression of MAP4K1, thus inhibiting events important in driving invasion, namely, MAPK85 activation and consequent JUN-dependent transcription. May play a role in apoptosis. Tumor suppressor. Inhibits tumor promoter-induced neoplastic transformation. Binds RNA (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PDCD4 interacting with PIK3CB and CTSZ promotes the apoptosis of multiple myeloma cells., [RefSeq, PubMed]; Progress on the relationship between tumor suppressor PDCD4 and diseases based on the analysis of structural characteristics. Review article, [RefSeq, PubMed]; STAT1 mediated downregulation of the tumor suppressor gene PDCD4, is driven by the atypical cadherin FAT1, in glioblastoma., [RefSeq, PubMed]; This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]., [RefSeq]; Up-regulated in senescent diploid fibroblasts, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RCV4;B5ME91;O15501;Q5VZS6;Q6PJI5;Q8TAR5;Q99834", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0060940 epithelial to mesenchymal transition involved in cardiac fibroblast development;GO:1904761 negative regulation of myofibroblast differentiation;GO:1905064 negative regulation of vascular associated smooth muscle cell differentiation;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q53EL6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26678-1", "uniprot_id": [ { "id": "PPLA_HUMAN", "url": "https://www.uniprot.org/uniprot/P26678", "type": "external" } ], "mass": 6109.0, "length": 52, "protein_name": "Phospholamban", "gene_name": "PLN", "organism": "Human", "refseq_name": "phospholamban", "refseq_ac": [ { "id": "NP_002658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002658", "type": "external" } ], "gene_names_uniprotkb": "PLN; PLB", "gene_names_refseq": "CMD1P; CMH18; PLB; PLN", "protein_names_uniprotkb": "Phospholamban; PLB", "protein_names_refseq": "cardiac phospholamban; phospholamban", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy 18 (Disease Ontology:DOID:0110324); dilated cardiomyopathy 1P (Disease Ontology:DOID:0110439); heart disease (Disease Ontology:DOID:114); centronuclear myopathy (Disease Ontology:DOID:14717); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5350); (R-HSA-5578775); (R-HSA-936837)", "pathway_count": 3, "publication_count": 143, "publication_id_list": "10198197;10220561;10401004;10484781;10615129;10767338;10913253;10988285;11062458;11852250;11897526;11904675;12119109;12465028;12610310;12693956;12705874;12804600;12832055;12953268;12962492;15174025;15260953;1530941;15528241;15598648;15754088;15764655;15831496;15919184;15925480;16043693;16182249;16226237;16317512;16432188;16564056;1656976;16690701;16700898;16754674;16897780;1693919;17224452;17234969;17241641;17357072;17486119;17548345;17766390;18081313;1828805;18508637;18533723;18723824;18838385;18995841;19278978;19345671;19608982;19671701;19751721;19878721;20388710;21108950;21419777;2160952;21998325;22137083;22155237;22186024;22210847;2226863;22427649;22463608;22472319;22707725;22959711;22972900;23196729;23362265;23549614;23610579;2430951;24392018;24511878;24550830;2477373;24813991;24895160;25251363;2559024;25994790;26292938;26791827;27067231;27833092;27862975;2838329;28509982;28645727;28890335;29057374;29431258;29501609;2953725;29557506;29593308;29807087;30429286;31154438;31325238;31848261;32873725;33019581;35580925;35805951;35861968;36445386;36523160;36622581;3759968;38387507;6328127;6832622;7626145;7702581;7711836;7749920;7779806;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285;9468536;9512019;9601048", "class_list": "", "function": "Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca(2+) Handling and Arrhythmogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy. Review article, [RefSeq, PubMed]; Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers., [RefSeq, PubMed]; Reversibly inhibits the activity of ATP2A2/SERCA2 in cardiac sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+) (PubMed:28890335). Binds preferentially to the ATP-bound E1 conformational form of ATP2A2 which predominates at low Ca(2+) concentrations during the diastolic phase of the cardiac cycle (By similarity). Inhibits ATP2A2 Ca(2+) affinity by disrupting its allosteric activation by ATP (By similarity). Modulates the contractility of the heart muscle in response to physiological stimuli via its effects on ATP2A2. Modulates calcium re-uptake during muscle relaxation and plays an important role in calcium homeostasis in the heart muscle. The degree of ATP2A2 inhibition depends on the oligomeric state of PLN. ATP2A2 inhibition is alleviated by PLN phosphorylation (By similarity). Also inhibits the activity of ATP2A3/SERCA3 (By similarity). Controls intracellular Ca(2+) levels in elongated spermatids and may play a role in germ cell differentiation (By similarity). In the thalamic reticular nucleus of the brain, plays a role in the regulation of sleep patterns and executive functioning (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is found as a pentamer and is a major substrate for the cAMP-dependent protein kinase in cardiac muscle. The encoded protein is an inhibitor of cardiac muscle sarcoplasmic reticulum Ca(2+)-ATPase in the unphosphorylated state, but inhibition is relieved upon phosphorylation of the protein. The subsequent activation of the Ca(2+) pump leads to enhanced muscle relaxation rates, thereby contributing to the inotropic response elicited in heart by beta-agonists. The encoded protein is a key regulator of cardiac diastolic function. Mutations in this gene are a cause of inherited human dilated cardiomyopathy with refractory congestive heart failure, and also familial hypertrophic cardiomyopathy. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0051117 ATPase binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031966 mitochondrial membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:1901894 regulation of ATPase-coupled calcium transmembrane transporter activity;GO:0090281 negative regulation of calcium ion import;GO:1901897 regulation of relaxation of cardiac muscle;GO:1901895 negative regulation of ATPase-coupled calcium transmembrane transporter activity;GO:0008542 visual learning", "synthesized_glycan_count": 0, "hit_score": 14.4, "record_id": "P26678-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49247-1", "uniprot_id": [ { "id": "RPIA_HUMAN", "url": "https://www.uniprot.org/uniprot/P49247", "type": "external" } ], "mass": 33269.0, "length": 311, "protein_name": "Ribose-5-phosphate isomerase", "gene_name": "RPIA", "organism": "Human", "refseq_name": "ribose-5-phosphate isomerase", "refseq_ac": [ { "id": "NP_653164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653164", "type": "external" } ], "gene_names_uniprotkb": "RPIA; RPI", "gene_names_refseq": "RPIAD; RPIA; RPI", "protein_names_uniprotkb": "Ribose-5-phosphate isomerase; 5.3.1.6; Phosphoriboisomerase", "protein_names_refseq": "phosphoriboisomerase; ribose 5-phosphate epimerase; ribose-5-phosphate isomerase", "tax_id": 9606, "disease": "ribose-5-P isomerase deficiency (MONDO:MONDO:0012073)", "pathway": " (hsa:22934); (R-HSA-5659996); (R-HSA-6791461); (R-HSA-71336); (R-HSA-73843)", "pathway_count": 5, "publication_count": 68, "publication_id_list": "10518023;10869557;11283793;14988808;17585908;17804405;18186520;18560757;18775706;19651622;20068231;20923965;22682222;23186163;23301498;24129315;25229427;25418920;25810538;2581946;26154972;26929215;26992070;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29317506;29393594;29557506;29605689;29632046;29786170;30315122;30429286;30524438;31020640;31530632;31844290;32265295;32350084;32357974;32897882;33912179;33968037;34185709;34357683;34561969;34932366;35051231;35561310;35580925;35887232;36010968;38253038;3932573;39894887;3994686;40596516;4328836;7396409;7758956;8300619;9357955;9920387", "class_list": "", "function": "Catalyzes the reversible conversion of ribose-5-phosphate to ribulose 5-phosphate and participates in the first step of the non-oxidative branch of the pentose phosphate pathway., [UniProtKB, PubMed]; RPI is the second known inborn error in the reversible phase of the pentose-phosphate-pathway, confirming that defects in pentose and polyol metabolism constitute a new area of inborn metabolic disorders, [RefSeq, PubMed]; Suppression of Ribose-5-Phosphate Isomerase a Induces ROS to Activate Autophagy, Apoptosis, and Cellular Senescence in Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q541P9;Q96BJ6", "ec_number_list": [ { "id": "5.3.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.6", "type": "external" } ], "go_molecular_function": "GO:0004751 ribose-5-phosphate isomerase activity;GO:0042802 identical protein binding;GO:0048029 monosaccharide binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006014 D-ribose metabolic process;GO:0009052 pentose-phosphate shunt, non-oxidative branch;GO:0006098 pentose-phosphate shunt", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P49247-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62875-1", "uniprot_id": [ { "id": "RPAB5_HUMAN", "url": "https://www.uniprot.org/uniprot/P62875", "type": "external" } ], "mass": 7645.0, "length": 67, "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC5", "gene_name": "POLR2L", "organism": "Human", "refseq_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC5", "refseq_ac": [ { "id": "NP_066951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066951", "type": "external" } ], "gene_names_uniprotkb": "POLR2L", "gene_names_refseq": "POLR2L; RBP10; RPABC5; RPB10beta; RPB10; RPB7.6; hRPB7.6", "protein_names_uniprotkb": "DNA-directed RNA polymerases I, II, and III subunit RPABC5; DNA-directed RNA polymerase III subunit L; RNA polymerase II 7.6 kDa subunit; RNA polymerases I, II, and III subunit ABC5; RPB10 homolog; RPB7.6", "protein_names_refseq": "DNA-directed RNA polymerase III subunit L; DNA-directed RNA polymerases I, II, and III subunit RPABC5; RNA polymerase II 7.6 kDa subunit; RNA polymerase II subunit L; RNA polymerases I, II, and III subunit ABC5; RPB10 homolog; polymerase (RNA) II (DNA directed) polypeptide L, 7.6kDa; polymerase (RNA) II subunit L", "tax_id": 9606, "disease": "", "pathway": " (hsa:5441); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-168325); (R-HSA-1834949); (R-HSA-203927); (R-HSA-427413); (R-HSA-5250924); (R-HSA-5578749); (R-HSA-5601884); (R-HSA-5617472); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72203); (R-HSA-73762); (R-HSA-73772); (R-HSA-73776); (R-HSA-73779); (R-HSA-73780); (R-HSA-73863); (R-HSA-73980); (R-HSA-749476); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071); (R-HSA-77075); (R-HSA-8851708); (R-HSA-9018519); (R-HSA-9670095); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 56, "publication_count": 680, "publication_id_list": 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"class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non-coding RNAs, and a small RNAs, such as 5S rRNA and tRNAs, respectively., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains four conserved cysteines characteristic of an atypical zinc-binding domain. Like its counterpart in yeast, this subunit may be shared by the other two DNA-directed RNA polymerases. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P52436;Q6FHX3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005665 RNA polymerase II, core complex;GO:0005736 RNA polymerase I complex", "go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0042797 tRNA transcription by RNA polymerase III;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 68.1, "record_id": "P62875-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12789-2", "uniprot_id": [ { "id": "TF3C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12789", "type": "external" } ], "mass": 238875.0, "length": 2109, "protein_name": "General transcription factor 3C polypeptide 1", "gene_name": "GTF3C1", "organism": "Human", "refseq_name": "general transcription factor 3C polypeptide 1 isoform 2", "refseq_ac": [ { "id": "NP_001273171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273171", "type": "external" } ], "gene_names_uniprotkb": "GTF3C1", "gene_names_refseq": "GTF3C1; TFIIIC220; TFIIICalpha; TFIIIC", "protein_names_uniprotkb": "General transcription factor 3C polypeptide 1; TF3C-alpha; TFIIIC 220 kDa subunit; TFIIIC box B-binding subunit; TFIIIC220; Transcription factor IIIC 220 kDa subunit; Transcription factor IIIC subunit alpha", "protein_names_refseq": "TF3C-alpha; TFIIIC 220 kDa subunit; TFIIIC box B-binding subunit; general transcription factor 3C polypeptide 1 isoform 2; general transcription factor 3C polypeptide 1; general transcription factor IIIC, polypeptide 1 (alpha subunit); general transcription factor IIIC, polypeptide 1, alpha 220kDa; transcription factor IIIC 220 kDa subunit; transcription factor IIIC subunit alpha", "tax_id": 9606, "disease": "", "pathway": " (hsa:2975); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066)", "pathway_count": 4, "publication_count": 139, "publication_id_list": "10.1101/2023.09.13.557529;11419933;12381659;15302935;16964243;17081983;17525332;18077418;18220336;18377933;18452278;18669648;18991276;19007248;19299493;19413330;1946469;19651622;19664994;19664995;19690332;19691289;20068231;20112406;21406692;21872626;21993680;22299025;22424782;23186163;23481700;23966877;2404611;24275569;24366607;24714562;24715725;25418920;25505266;25576301;25645385;25755297;25802875;25880248;26154972;26375851;26728094;26768311;26811146;26929215;26992070;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30620550;31217245;31530632;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36835038;37217939;37761933;37938771;37963603;40596516;40914422;7568218;7995525;8127861;8164661;8407894;8423814;9171375;9312031", "class_list": "", "function": "Required for RNA polymerase III-mediated transcription. Component of TFIIIC that initiates transcription complex assembly on tRNA and is required for transcription of 5S rRNA and other stable nuclear and cytoplasmic RNAs. Binds to the box B promoter element., [UniProtKB]; TFIIIC as a Potential Epigenetic Modulator of Histone Acetylation in Human Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. Publication Status: Online-Only, [RefSeq, PubMed]; The Largest Subunit of Human TFIIIC Complex, TFIIIC220, a Lysine Acetyltransferase Targets Histone H3K18. Erratum:[J Biochem. 2024 Apr 29;175(5):573. doi: 10.1093/jb/mvae025. PMID: 38478019], [RefSeq, PubMed]; These findings reveal a novel and essential regulatory function of both SINEs and TFIIIC in mediating gene relocation and transcription, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RP21;Q12838;Q6DKN9;Q9Y4W9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000995 RNA polymerase III general transcription initiation factor activity", "go_cellular_component": "GO:0000127 transcription factor TFIIIC complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0009304 tRNA transcription;GO:0042791 5S class rRNA transcription by RNA polymerase III;GO:0042797 tRNA transcription by RNA polymerase III;GO:0009303 rRNA transcription;GO:0006383 transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q12789-2", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49590-1", "uniprot_id": [ { "id": "SYHM_HUMAN", "url": "https://www.uniprot.org/uniprot/P49590", "type": "external" } ], "mass": 56888.0, "length": 506, "protein_name": "Histidine--tRNA ligase, mitochondrial", "gene_name": "HARS2", "organism": "Human", "refseq_name": "histidine--tRNA ligase, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001265660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265660", "type": "external" } ], "gene_names_uniprotkb": "HARS2; HARSL; HARSR; HO3", "gene_names_refseq": "HARS2; HARSL; HARSR; HO3; HisRS; PRLTS2", "protein_names_uniprotkb": "Histidine--tRNA ligase, mitochondrial; 6.1.1.21; HisRS; Histidine--tRNA ligase-like; Histidyl-tRNA synthetase", "protein_names_refseq": "HARS-related; histidine tRNA ligase 2, mitochondrial (putative); histidine translase; histidine--tRNA ligase, mitochondrial isoform 2 precursor; histidine-tRNA ligase homolog; histidyl-tRNA synthetase 2, mitochondrial (putative); histidyl-tRNA synthetase 2, mitochondrial, hisRS; probable histidine--tRNA ligase, mitochondrial; probable histidyl-tRNA synthetase, mitochondrial", "tax_id": 9606, "disease": "Perrault syndrome (Disease Ontology:DOID:0050857); Perrault syndrome 2 (Disease Ontology:DOID:0061117); Charcot-Marie-Tooth disease, axonal type 2W (Disease Ontology:DOID:0110162); Usher syndrome type 3B (Disease Ontology:DOID:0110842); sensory peripheral neuropathy (Disease Ontology:DOID:2491)", "pathway": " (hsa:23438); (R-HSA-379726)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17081983;17384640;17847012;18707149;18767875;19608861;19651622;20068231;20112406;21464306;23186163;24275569;25418920;25645385;25880248;26992070;27920218;28904123;29242379;29632046;30524438;31449985;31819004;31827252;31844290;32157095;32357974;32387766;32938616;33141586;33228777;33298915;33968037;34357683;34509645;35051231;35580925;36010968;36241641;38186093;40914422;7755634;8078941;9278442;9466989", "class_list": "", "function": "A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families., [RefSeq, PubMed]; Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Mitochondrial aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of histidine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP)., [UniProtKB, PubMed]; Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNA(His) mutation., [RefSeq, PubMed]; Two novel likely pathogenic variants of HARS2 identified in a Chinese family with sensorineural hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; [Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDY8", "ec_number_list": [ { "id": "6.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.21", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0004821 histidine-tRNA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006418 tRNA aminoacylation for protein translation;GO:0006412 translation;GO:0006427 histidyl-tRNA aminoacylation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "P49590-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39905-1", "uniprot_id": [ { "id": "GDNF_HUMAN", "url": "https://www.uniprot.org/uniprot/P39905", "type": "external" } ], "mass": 23720.0, "length": 211, "protein_name": "Glial cell line-derived neurotrophic factor", "gene_name": "GDNF", "organism": "Human", "refseq_name": "glial cell line-derived neurotrophic factor isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_000505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000505", "type": "external" } ], "gene_names_uniprotkb": "GDNF", "gene_names_refseq": "ATF1; ATF2; ATF; GDNF; HFB1-GDNF; HSCR3", "protein_names_uniprotkb": "Glial cell line-derived neurotrophic factor; ATF; Astrocyte-derived trophic factor; hGDNF", "protein_names_refseq": "astrocyte-derived trophic factor; glial cell line-derived neurotrophic factor isoform 1 preproprotein; glial cell line-derived neurotrophic factor", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); pheochromocytoma (Disease Ontology:DOID:0050771); Kennedy's disease (Disease Ontology:DOID:0060161); alcohol-associated liver disease (Disease Ontology:DOID:0070658); Parkinsonism (Disease Ontology:DOID:0080855); Hirschsprung's disease (Disease Ontology:DOID:10487); Alzheimer's disease (Disease Ontology:DOID:10652); obsessive-compulsive disorder (Disease Ontology:DOID:10933); sciatic neuropathy (Disease Ontology:DOID:11446); acoustic neuroma (Disease Ontology:DOID:12689); hyperprolactinemia (Disease Ontology:DOID:12700); Guillain-Barre syndrome (Disease Ontology:DOID:12842); Sjogren's syndrome (Disease Ontology:DOID:12894); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030); glomerulonephritis (Disease Ontology:DOID:2921); Churg-Strauss syndrome (Disease Ontology:DOID:3049); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); neuromuscular disease (Disease Ontology:DOID:440); amphetamine abuse (Disease Ontology:DOID:670); irritable bowel syndrome (Disease Ontology:DOID:9778); polyarteritis nodosa (Disease Ontology:DOID:9810); heroin dependence (Disease Ontology:DOID:9976); Hirschsprung disease, susceptibility to, 3 (MONDO:MONDO:0013383)", "pathway": " (hsa:2668); (R-HSA-419037); (R-HSA-5673001); (R-HSA-8853659); (R-HSA-9830674)", "pathway_count": 5, "publication_count": 119, "publication_id_list": "10366742;10448070;10508167;10829012;10869344;10917288;10995764;11000521;11002419;11027663;11090077;11136978;11237011;11237712;11313946;11360177;11390647;11470823;11491658;11546808;11702783;11886862;12032311;12094235;12121613;12242309;12765789;12771945;14506247;14707138;14766744;15044950;15242795;15286081;15356145;15364913;1545823;15546878;15569713;16267048;16627759;16684964;1716764;17998941;18059411;18775330;1898771;19279408;19478429;19920141;20478380;21102635;21372320;21779497;21779505;21993244;21994944;22081608;22569528;22589270;22750304;23103841;23303910;23333276;23443682;23575685;24897931;24937142;25219551;25242331;25781681;26085527;2809592;28778966;31135801;31535977;35051231;38307947;38674063;39085346;39337713;6148751;7665556;7809086;7867768;7935463;7972015;8052307;8262246;8394845;8493557;8493579;8628282;8631863;8637703;8662982;8663426;8665852;8674117;8710374;8896568;8896569;8939933;8968758;8988018;9047384;9192684;9215674;9299438;9359036;9398268;9407096;9491986;9497256;9604935;9764818;9811930;9883723;9927426", "class_list": "", "function": "GDNF/GFRA1 signaling contributes to chemo- and radioresistance in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Glial-Cell-Line-Derived Neurotrophic Factor Promotes Glioblastoma Cell Migration and Invasion via the SMAD2/3-SERPINE1-Signaling Axis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of novel GDNF isoforms and cis-antisense GDNFOS gene and their regulation in human middle temporal gyrus of Alzheimer disease, [RefSeq, PubMed]; MicroRNA-Mediated Suppression of Glial Cell Line-Derived Neurotrophic Factor Expression Is Modulated by a Schizophrenia-Associated Non-Coding Polymorphism. Publication Status: Online-Only, [RefSeq, PubMed]; Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:8493557). Acts by binding to its coreceptor, GFRA1, leading to autophosphorylation and activation of the RET receptor (PubMed:10829012, PubMed:25242331, PubMed:31535977). Involved in the development of the neural crest (PubMed:15242795)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The significance of glial cell line-derived neurotrophic factor analysis in Progressive Supranuclear Palsy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Mutations in this gene may be associated with Hirschsprung disease and Tourette syndrome. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 31, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7WPK7;O95448;O95449;O95986;Q6FH33;Q96L44;Q9UD32;Q9UD33;Q9UMV2;Q9UP67;Q9UP97", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042803 protein homodimerization activity;GO:0030971 receptor tyrosine kinase binding;GO:0008083 growth factor activity;GO:0030116 glial cell-derived neurotrophic factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0030432 peristalsis;GO:0051584 regulation of dopamine uptake involved in synaptic transmission;GO:0048484 enteric nervous system development;GO:0021516 dorsal spinal cord development;GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "P39905-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3C0-1", "uniprot_id": [ { "id": "ASCC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3C0", "type": "external" } ], "mass": 251460.0, "length": 2202, "protein_name": "Activating signal cointegrator 1 complex subunit 3", "gene_name": "ASCC3", "organism": "Human", "refseq_name": "activating signal cointegrator 1 complex subunit 3 isoform c", "refseq_ac": [ { "id": "NP_001271200", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271200", "type": "external" } ], "gene_names_uniprotkb": "ASCC3; HELIC1; RQT2", "gene_names_refseq": "ASC1p200; ASCC3; HELIC1; MRT81; RNAH", "protein_names_uniprotkb": "Activating signal cointegrator 1 complex subunit 3; 5.6.2.4; ASC-1 complex subunit p200; ASC1p200; Helicase, ATP binding 1; Trip4 complex subunit p200", "protein_names_refseq": "ASC-1 complex subunit P200; RNA helicase family; activating signal cointegrator 1 complex subunit 3 isoform c; helicase, ATP binding 1; trip4 complex subunit p200", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308); intellectual developmental disorder, autosomal recessive 81 (MONDO:MONDO:0958204)", "pathway": " (hsa:10973); (R-HSA-112126); (R-HSA-9954716)", "pathway_count": 3, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12077347;12226667;12486230;12594517;14654843;16858410;19608861;19651622;19664994;20068231;20714506;21872626;21937992;21993680;22055184;22424782;22544926;22645359;23186163;23481700;23781071;24366607;24397554;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26728094;26758079;26811146;26992070;27397612;27600516;27846572;27920218;28063628;28065601;28132843;28218747;28228285;28446606;28514659;28685749;28757607;28832583;28834231;28904123;29144457;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29997253;30293783;30315122;30410026;30429286;30524438;31154438;31217245;31530632;31799605;31844290;31848261;32099016;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35047834;35051231;35154160;35318648;35561310;35580925;36010968;36241641;36284347;36302773;37938771;38148115;38665916;39534244", "class_list": "", "function": "ASCC3 promotes the immunosuppression and progression of non-small cell lung cancer by impairing the type I interferon response via CAND1-mediated ubiquitination inhibition of STAT3. Erratum:[J Immunother Cancer. 2024 Jul 10;12(7):e007766corr1. doi: 10.1136/jitc-2023-007766corr1. PMID: 38986545] Publication Status: Online-Only, [RefSeq, PubMed]; ATPase involved both in DNA repair and rescue of stalled ribosomes (PubMed:22055184, PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). 3'-5' DNA helicase involved in repair of alkylated DNA: promotes DNA unwinding to generate single-stranded substrate needed for ALKBH3, enabling ALKBH3 to process alkylated N3-methylcytosine (3mC) within double-stranded regions (PubMed:22055184). Also involved in activation of the ribosome quality control (RQC) pathway, a pathway that degrades nascent peptide chains during problematic translation (PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). Drives the splitting of stalled ribosomes that are ubiquitinated in a ZNF598-dependent manner, as part of the ribosome quality control trigger (RQT) complex (PubMed:28757607, PubMed:32099016, PubMed:32579943, PubMed:36302773). Part of the ASC-1 complex that enhances NF-kappa-B, SRF and AP1 transactivation (PubMed:12077347)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DNA unwinding by ASCC3 helicase is coupled to ALKBH3-dependent DNA alkylation repair and cancer cell proliferation., [RefSeq, PubMed]; Silencing of ASCC3 resulted in upregulation of multiple antiviral interferon-stimulated genes, which correlated with inhibition of infection of several positive-strand RNA viruses. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "E7EW23;O43738;Q4G1A0;Q5VTN2;Q9H1I9;Q9H5A2;Q9NTR0", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "1.14.11.33", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.33", "type": "external" }, { "id": "1.14.11.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.54", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0043138 3'-5' DNA helicase activity;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0006307 DNA alkylation repair;GO:0006260 DNA replication;GO:1990116 ribosome-associated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q8N3C0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15645-1", "uniprot_id": [ { "id": "PCH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15645", "type": "external" } ], "mass": 48551.0, "length": 432, "protein_name": "Pachytene checkpoint protein 2 homolog", "gene_name": "TRIP13", "organism": "Human", "refseq_name": "pachytene checkpoint protein 2 homolog isoform 1", "refseq_ac": [ { "id": "NP_004228", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004228", "type": "external" } ], "gene_names_uniprotkb": "TRIP13; PCH2", "gene_names_refseq": "16E1BP; MVA3; OOMD9; OZEMA9; TRIP13", "protein_names_uniprotkb": "Pachytene checkpoint protein 2 homolog; 16E1-BP; HPV16 E1 protein-binding protein; Human papillomavirus type 16 E1 protein-binding protein; TR-interacting protein 13; TRIP-13; Thyroid hormone receptor interactor 13; Thyroid receptor-interacting protein 13", "protein_names_refseq": "16E1-BP; HPV16 E1 protein binding protein; SH3TC1/TRIP13 fusion; TR-interacting protein 13; TRIP-13; human papillomavirus type 16 E1 protein-binding protein; pachytene checkpoint protein 2 homolog isoform 1; pachytene checkpoint protein 2 homolog; thyroid receptor-interacting protein 13", "tax_id": 9606, "disease": "mosaic variegated aneuploidy syndrome 3 (Disease Ontology:DOID:0080689); oocyte maturation defect 9 (MONDO:MONDO:0033565)", "pathway": " (hsa:9319)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15592455;17081983;18691976;20068231;20112406;22223895;23301498;24714562;25576301;26154972;26992070;27600516;27846572;27920218;28218747;28510447;28553959;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29789417;30315122;30379171;30524438;30779550;30833945;31092671;31844290;31937595;32157095;32161166;32350084;32357974;32387766;32473092;32488085;32502341;32860853;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34561969;34725712;35051231;35251023;35580925;36010968;36215666;36241641;37938771;38039923;38253038;38347785;38492425;39187490;39436503;40596516;40914422;7776974;9223484", "class_list": "", "function": "High expression of TRIP13 is associated with tumor progression in H. pylori infection induced gastric cancer., [RefSeq, PubMed]; Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher-order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double-strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (PubMed:28553959)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Role of TRIP13 in human cancer development. Review article Publication Status: Online-Only, [RefSeq, PubMed]; TRIP13 Activates Glycolysis to Promote Cell Stemness and Strengthen Doxorubicin Resistance of Colorectal Cancer Cells., [RefSeq, PubMed]; TRIP13 regulates progression of gastric cancer through stabilising the expression of DDX21. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting of oncogenic AAA-ATPase TRIP13 reduces progression of pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "C9K0T3;D3DTC0;O15324", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0001673 male germ cell nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0051598 meiotic recombination checkpoint signaling;GO:0007283 spermatogenesis;GO:0006302 double-strand break repair;GO:0006366 transcription by RNA polymerase II;GO:0007094 mitotic spindle assembly checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q15645-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36575-1", "uniprot_id": [ { "id": "ARRC_HUMAN", "url": "https://www.uniprot.org/uniprot/P36575", "type": "external" } ], "mass": 42778.0, "length": 388, "protein_name": "Arrestin-C", "gene_name": "ARR3", "organism": "Human", "refseq_name": "arrestin-C", "refseq_ac": [ { "id": "NP_004303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004303", "type": "external" } ], "gene_names_uniprotkb": "ARR3; ARRX; CAR", "gene_names_refseq": "ARR3; ARRX; MYP26; cArr", "protein_names_uniprotkb": "Arrestin-C; C-arrestin; Cone arrestin; Retinal cone arrestin-3; X-arrestin; cArr", "protein_names_refseq": "C-arrestin; arrestin 3 retinal (X-arrestin); arrestin 4; arrestin-C; retinal cone arrestin-3", "tax_id": 9606, "disease": "myopia (Disease Ontology:DOID:11830); myopia 26, X-linked, female-limited (MONDO:MONDO:0049221)", "pathway": " (hsa:407)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;20048153;27829781;35001458;35051231;35427647;36180177;36250246;37795829;38517428;8224247;8308033;8612728;9931451", "class_list": "", "function": "Cannabinoid 1 (CB1) receptor arrestin subtype-selectivity and phosphorylation dependence., [RefSeq, PubMed]; Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene., [RefSeq, PubMed]; Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance., [RefSeq, PubMed]; May play a role in an as yet undefined retina-specific signal transduction. Could bind to photoactivated-phosphorylated red/green opsins., [UniProtKB]; Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia., [RefSeq, PubMed]; Pathogenic variant in the X-linked ARR3 gene associated with variable early-onset myopia., [RefSeq, PubMed]; The protein encoded by this gene is a non-visual arrestin which binds to agonist-activated, phosphorylated G protein-coupled receptors. This binding uncouples the receptor from the heterotrimeric G protein, resulting in termination of the G protein-coupled receptor signaling. The encoded protein also is a part of the centrosome, interacting with gamma-tubulin to help regulate proper centrosome function. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5B0B9;Q5JT23;Q5JT24;Q6IBF5;Q96EN2", "ec_number_list": [], "go_molecular_function": "GO:0001664 G protein-coupled receptor binding;GO:0051219 phosphoprotein binding;GO:0002046 opsin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0045202 synapse;GO:0001917 photoreceptor inner segment;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0007165 signal transduction;GO:0007601 visual perception;GO:0002031 G protein-coupled receptor internalization", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "P36575-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXK1-1", "uniprot_id": [ { "id": "ASB15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXK1", "type": "external" } ], "mass": 65799.0, "length": 588, "protein_name": "Ankyrin repeat and SOCS box protein 15", "gene_name": "ASB15", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 15", "refseq_ac": [ { "id": "NP_001277187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277187", "type": "external" } ], "gene_names_uniprotkb": "ASB15", "gene_names_refseq": "ASB15", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 15; ASB-15", "protein_names_refseq": "ankyrin repeat and SOCS box protein 15; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:142685); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 135, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16012773;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17672918;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19664994;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;28115426;29153394;30610225;31786426;32005965;32284348;33444648;35051231;38253038;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "ASB15 gene, consisting of 12 exons, was identified by using bio-informatics., [RefSeq, PubMed]; Genome-wide association study reveals two novel risk alleles for incident obstructive sleep apnea in the EPISONO cohort., [RefSeq, PubMed]; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB]; The apparent occurrence of an unusual TG 3' splice site in intron 9 is critically discussed., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3ZCP3;Q3ZCP5;Q68D37", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q8WXK1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QS3-1", "uniprot_id": [ { "id": "ARX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QS3", "type": "external" } ], "mass": 58160.0, "length": 562, "protein_name": "Homeobox protein ARX", "gene_name": "ARX", "organism": "Human", "refseq_name": "homeobox protein ARX", "refseq_ac": [ { "id": "NP_620689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620689", "type": "external" } ], "gene_names_uniprotkb": "ARX", "gene_names_refseq": "ARX; CT121; EIEE1; ISSX; MRX29; MRX32; MRX33; MRX36; MRX38; MRX43; MRX54; MRX76; MRX87; MRXS1; PRTS", "protein_names_uniprotkb": "Homeobox protein ARX; Aristaless-related homeobox", "protein_names_refseq": "aristaless-related homeobox, X-linked; cancer/testis antigen 121; homeobox protein ARX", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309); syndromic X-linked intellectual disability Hedera type (Disease Ontology:DOID:0060806); developmental and epileptic encephalopathy 1 (Disease Ontology:DOID:0080468); non-syndromic X-linked intellectual disability ARX-related (Disease Ontology:DOID:0112021); corpus callosum agenesis-abnormal genitalia syndrome (Disease Ontology:DOID:0112151); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); X-linked lissencephaly 2 (Disease Ontology:DOID:0112238); Partington syndrome (Disease Ontology:DOID:14744); epilepsy (Disease Ontology:DOID:1826); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:170302)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;11889467;11971879;12359145;12376946;12379852;14722918;22194193;25576301;27864847;28218747;28228285;28657654;29437277;30315122;31691806;31844290;32157095;32387766;33633747;33968037;34493754;35051231;35328505;35840571;37455385;37879892;37883554", "class_list": "", "function": "DNA-binding transcription factor that plays a central role in the differentiation and development of type A pancreatic cells, which are located in the islets of Langerhans and secrete glucagon (By similarity). Binds to specific sequence motif 5'-TAATTA-3' in regulatory elements of target genes (PubMed:22194193, PubMed:31691806). Also plays a key role in intestinal enteroendocrine cell differentiation by promoting differentiation of intestinal enteroendocrine cell types L, -N, -D, -I and -G (PubMed:37883554). Required for normal brain development: plays a role in neuronal proliferation, interneuronal migration and differentiation in the embryonic forebrain (PubMed:11889467, PubMed:12379852, PubMed:14722918). May also be involved in axonal guidance in the floor plate (By similarity). Promotes expression of transcription of KDM5C (PubMed:31691806). Activates expression of KDM5C synergistically with histone lysine demethylase PHF8 and perhaps in competition with transcription regulator ZNF711; synergy may be related to enrichment of histone H3K4me3 in regulatory elements (PubMed:31691806)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Further characterisation of ARX-related disorders in females due to inherited or de novo variants. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects. Publication Status: Online-Only, [RefSeq, PubMed]; Predicting recurrence in pancreatic neuroendocrine tumours: role of ARX and alternative lengthening of telomeres (ALT)., [RefSeq, PubMed]; This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q96QS3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H993-1", "uniprot_id": [ { "id": "ARMT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H993", "type": "external" } ], "mass": 51172.0, "length": 441, "protein_name": "Damage-control phosphatase 1", "gene_name": "DCPH1", "organism": "Human", "refseq_name": "damage-control phosphatase 1 isoform b", "refseq_ac": [ { "id": "NP_001273491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273491", "type": "external" } ], "gene_names_uniprotkb": "DCPH1; ARMT1; C6orf211; DUF89", "gene_names_refseq": "ARMT1; C6orf211; DCPH1", "protein_names_uniprotkb": "Damage-control phosphatase 1; 2.1.1.-; 3.1.3.-; Acidic residue methyltransferase 1; Damage-control phosphatase ARMT1; Damage-control phosphatase DUF89; Protein-glutamate O-methyltransferase; Sugar phosphate phosphatase DCPH1", "protein_names_refseq": "UPF0364 protein C6orf211; acidic residue methyltransferase 1; damage-control phosphatase 1 isoform b; damage-control phosphatase ARMT1; damage-control phosphatase DUF89; protein-glutamate O-methyltransferase; sugar phosphate phosphatase ARMT1; sugar phosphate phosphatase DCPH1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79624)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18802091;18978678;19608861;20068231;21552322;22967762;23301498;23481700;24275569;24714562;25576301;25645385;25732820;25880248;25892735;26450907;26728094;26992070;27322068;27600516;27846572;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29317506;29493099;29508533;29557506;29769354;29789417;30315122;30429286;30779550;30833945;31154438;31844290;31848261;32157095;32357974;32387766;32682077;32938616;32983136;33043033;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34229054;34932366;35051231;35154160;35318648;35580925;36010968;36241641;36284347;36581221;37938771;40914422", "class_list": "", "function": "Armt1 protein specifically targets proliferating cell nuclear antigen (PCNA) in breast cancer cells, predominately methylating glutamate side chains., [RefSeq, PubMed]; C6ORF211 correlates with proliferation and clinical outcome in tumors., [RefSeq, PubMed]; Human ARMT1 structure and substrate specificity indicates that it is a DUF89 family damage-control phosphatase., [RefSeq, PubMed]; Metal-dependent phosphatase that shows phosphatase activity against several substrates, including fructose-1-phosphate and fructose-6-phosphate. Its preference for fructose-1-phosphate, a strong glycating agent that causes DNA damage rather than a canonical yeast metabolite, suggests a damage-control function in hexose phosphate metabolism. Has also been shown to have O-methyltransferase activity that methylates glutamate residues of target proteins to form gamma-glutamyl methyl ester residues. Possibly methylates PCNA, suggesting it is involved in the DNA damage response., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Studies show that acidic residue methyltransferase 1 (Armt1) has a vital role in regulation of the DNA damage response likely through its ability to O-methylate glutamyl residues of the DNA repair factor proliferating cell nuclear antigen (PCNA)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96FC6;Q9UFY5", "ec_number_list": [ { "id": "3.1.3.94", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.94", "type": "external" }, { "id": "3.1.3.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.25", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0019899 enzyme binding;GO:0046872 metal ion binding;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0051998 protein carboxyl O-methyltransferase activity;GO:0016791 phosphatase activity", "go_cellular_component": "", "go_biological_process": "GO:0006974 DNA damage response;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9H993-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H765-1", "uniprot_id": [ { "id": "ASB8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H765", "type": "external" } ], "mass": 31642.0, "length": 288, "protein_name": "Ankyrin repeat and SOCS box protein 8", "gene_name": "ASB8", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 8 isoform a", "refseq_ac": [ { "id": "NP_001306225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306225", "type": "external" } ], "gene_names_uniprotkb": "ASB8; PP14212", "gene_names_refseq": "ASB8; PP14212", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 8; ASB-8", "protein_names_refseq": "ankyrin repeat and SOCS box protein 8 isoform a; ankyrin repeat and SOCS box protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:140461); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 182, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12559969;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25892735;26154972;26344709;26375851;26460955;26632597;26728094;26906416;27030794;27222660;27397612;27565346;27846572;27862975;27920218;28115426;28228285;28514659;28832583;28904123;29153394;29242379;29493099;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30429286;30610225;31009856;31154438;31530632;31844290;31848261;31937595;31998317;32005965;32157095;32161166;32284348;32298923;32387766;32488085;32502341;32983136;33141586;33298915;33444648;33717175;33936100;33968037;34211107;34509645;34932366;35051231;35318648;35580925;36010968;36284347;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "E3 ubiquitin ligase ankyrin repeat and SOCS box-containing 8(ASB8) interacted with TBK1/IKKi and phosphorylation modification of ASB8 at site of Ser17 to further strengthen its ubiquitination activity were verified. Phosphorylated ASB8 accelerates K48-linked ubiquitination and degradation of TBK1/IKKi, which further reduces phosphorylation level of IRF3 and inhibits production of IFN-beta., [RefSeq, PubMed]; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Inhibits IFN-beta production through the IRF3 signaling pathway by targeting TBK1 via 'Lys-48'-linked ubiquitination, leading to its proteasomal degradation (PubMed:32298923)., [UniProtKB, PubMed]; Molecular cloning and characterization of the human ASB-8 gene, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1P2;Q547Q2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q9H765-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y576-1", "uniprot_id": [ { "id": "ASB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y576", "type": "external" } ], "mass": 37014.0, "length": 335, "protein_name": "Ankyrin repeat and SOCS box protein 1", "gene_name": "ASB1", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001035535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035535", "type": "external" } ], "gene_names_uniprotkb": "ASB1; KIAA1146", "gene_names_refseq": "ASB-1; ASB1", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 1; ASB-1", "protein_names_refseq": "ankyrin repeat and SOCS box protein 1 isoform 1; ankyrin repeat and SOCS box protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51665); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 171, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11111040;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16325183;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21119685;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25880248;26024233;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;27920218;28115426;28228285;28540928;28832583;28834231;29153394;29242379;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30610225;31154438;31844290;32005965;32157095;32284348;32357974;32387766;32488085;32938616;33392160;33431678;33444648;33537174;33592498;33912179;33936100;34185709;34405274;34932366;35051231;35580925;36010968;37938771;39113857;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Epigenetic regulation of the stress-responsive Asb1 gene in anxiety-related phenotypes., [RefSeq, PubMed]; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:16325183). Mediates Notch-induced ubiquitination and degradation of TCF3/E2A and JAK2 (PubMed:21119685). Functions as a tumor suppressor by enhancing CHCHD3 'Lys-48'-linked ubiquitination, leading to inhibition of the CHCHD3/ROS signaling pathway (PubMed:39113857). Suppresses TAB2-linked 'Lys-48' polyubiquitination and consequently facilitates the initiation of NF-kappa-B and MAPK signaling cascades (PubMed:33431678). May play a role in testis development (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this gene contains an ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, targeting them for ubiquitination and degradation. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NL50;Q4ZG29;Q9ULS4", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0001818 negative regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q9Y576-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4B4-1", "uniprot_id": [ { "id": "ARIP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4B4", "type": "external" } ], "mass": 162769.0, "length": 1467, "protein_name": "Helicase ARIP4", "gene_name": "RAD54L2", "organism": "Human", "refseq_name": "helicase ARIP4 isoform a", "refseq_ac": [ { "id": "NP_001309182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309182", "type": "external" } ], "gene_names_uniprotkb": "RAD54L2; ARIP4; KIAA0809", "gene_names_refseq": "ARIP4; HSPC325; RAD54L2; SRISNF2L", "protein_names_uniprotkb": "Helicase ARIP4; 5.6.2.-; Androgen receptor-interacting protein 4; RAD54-like protein 2", "protein_names_refseq": "AR interacting protein 4; RAD54-like protein 2; androgen receptor-interacting protein 4; helicase ARIP4 isoform a; helicase ARIP4", "tax_id": 9606, "disease": "", "pathway": " (hsa:23132)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;17525332;18452278;18669648;19413330;19615748;19651622;19690332;19692572;20068231;20305658;21406692;23186163;23301498;23481700;25576301;25772364;26412716;26992070;27600516;28649982;28657654;28832583;28904123;29242379;29351928;29493099;29557506;30620550;31217245;31844290;32157095;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33912179;33968037;34019948;34171305;34509645;34846842;35051231;35132862;35138101;35254053;35580925;35705054;36010968;36334805;36384536;37541260;38253038;38665916;39028815;39302247;39531497;39534244;40307207", "class_list": "", "function": "CircRAD54L2 promotes triple-negative breast cancer progression by regulating the miR-888 family/PDK1 axis., [RefSeq, PubMed]; Helicase that modulates androgen receptor (AR)-dependent transactivation in a promoter-dependent manner (By similarity). May stimulate the release of RNA polymerase II, that has paused near the transcription start sites of AR-targeted genes and unwind R-loops formed at these sites; R-loops result from the hybridization of the short RNA strand nascently synthesized by the paused RNA polymerase II molecule and the DNA template (PubMed:39028815). May also stimulate double-strand break formation by TOP2B, which appears important for transcriptional output (PubMed:39028815). Not able to remodel mononucleosomes in vitro (By similarity)., [UniProtKB, UniProtKB, PubMed]; Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; P62 is a novel binding partner for ARIP4, and that its binding regulates the cellular protein level of ARIP4 under conditions of metabolic stress. Publication Status: Online-Only, [RefSeq, PubMed]; The ATPase activity of ARIP4 was stimulated in the presence of sumoylated Ad4BP/SF-1 and the Ad4BP/SF-1-binding site containing double-stranded DNA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q8TB57;Q9BV54", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0033677 DNA/RNA helicase activity;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006325 chromatin organization;GO:0006368 transcription elongation by RNA polymerase II;GO:0062176 R-loop processing", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9Y4B4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH62-1", "uniprot_id": [ { "id": "ARMX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH62", "type": "external" } ], "mass": 42501.0, "length": 379, "protein_name": "Armadillo repeat-containing X-linked protein 3", "gene_name": "ARMCX3", "organism": "Human", "refseq_name": "armadillo repeat-containing X-linked protein 3", "refseq_ac": [ { "id": "NP_057691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057691", "type": "external" } ], "gene_names_uniprotkb": "ARMCX3; ALEX3; BM-017; PRO6007", "gene_names_refseq": "ALEX3; ARMCX3; GASP6; dJ545K15.2", "protein_names_uniprotkb": "Armadillo repeat-containing X-linked protein 3; ARM protein lost in epithelial cancers on chromosome X 3; Protein ALEX3", "protein_names_refseq": "ARM protein lost in epithelial cancers on chromosome X 3; arm protein lost in epithelial cancers, X chromosome, 3; armadillo repeat-containing X-linked protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51566); (R-HSA-9013404)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;10847683;11145705;11149925;11162520;11237011;11704860;11919634;12975309;1464587;14675773;15023524;15169870;15542837;15814684;16081809;16243035;16243036;1660188;16777452;17060455;17081983;17158234;17214551;17269730;17698854;17765681;18056264;18191593;18318008;18662984;19415658;19651622;19690332;20112406;21151158;21378159;21406692;23186163;23255595;23481700;23757206;23870057;24366607;24623723;25576301;25862245;26016997;26154972;27481945;27600516;27846572;27862975;27920218;28514659;28705116;28832583;28904123;29242379;29331515;29393594;29557506;29632046;30410026;30429286;30779550;31154438;31389670;31844290;31871319;32157095;32265295;32350084;32357974;32488085;32938616;32983136;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34357683;35051231;35318648;35580925;36010968;36241641;37217939;37938771;7479768;8645157;9113980;9705280", "class_list": "", "function": "Reduction of Alex3 correlates with the development of non-small cell lung cancer and predicts adverse clinical outcome of non-small cell lung cancer patients. The effect of Alex3 on inhibiting invasion and migration may attribute to upregulation of E-cadherin expression through AKT-Slug pathway inactivation., [RefSeq, PubMed]; Regulates mitochondrial aggregation and transport in axons in living neurons. May link mitochondria to the TRAK2-kinesin motor complex via its interaction with Miro and TRAK2. Mitochondrial distribution and dynamics is regulated through ARMCX3 protein degradation, which is promoted by PCK and negatively regulated by WNT1. Enhances the SOX10-mediated transactivation of the neuronal acetylcholine receptor subunit alpha-3 and beta-4 subunit gene promoters., [UniProtKB, UniProtKB]; This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53HC6;Q7LCF5;Q9NPE4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:1904115 axon cytoplasm", "go_biological_process": "GO:0019896 axonal transport of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9UH62-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NS5-1", "uniprot_id": [ { "id": "ASB16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NS5", "type": "external" } ], "mass": 49637.0, "length": 453, "protein_name": "Ankyrin repeat and SOCS box protein 16", "gene_name": "ASB16", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 16", "refseq_ac": [ { "id": "NP_543139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543139", "type": "external" } ], "gene_names_uniprotkb": "ASB16", "gene_names_refseq": "ASB16", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 16; ASB-16", "protein_names_refseq": "ankyrin repeat and SOCS box protein 16; ankyrin repeat and SOCS box-containing protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:92591); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21248752;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;29632711;30610225;32005965;32284348;32572790;33444648;35494241;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "ASB16-AS1 up-regulated and phosphorylated TRIM37 to activate NF-kappaB pathway and promote proliferation, stemness, and cisplatin resistance of gastric cancer., [RefSeq, PubMed]; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBC0;Q8WXK0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q96NS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13790-1", "uniprot_id": [ { "id": "APOF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13790", "type": "external" } ], "mass": 35399.0, "length": 326, "protein_name": "Apolipoprotein F", "gene_name": "APOF", "organism": "Human", "refseq_name": "apolipoprotein F preproprotein", "refseq_ac": [ { "id": "NP_001629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001629", "type": "external" } ], "gene_names_uniprotkb": "APOF", "gene_names_refseq": "APOF; Apo-F; LTIP", "protein_names_uniprotkb": "Apolipoprotein F; Apo-F; LTIP; Lipid transfer inhibitor protein", "protein_names_refseq": "apolipoprotein F preproprotein; lipid transfer inhibitor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:319); (R-HSA-8964041)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10.1021/acs.analchem.6b02887;12907677;17215532;17237796;17339654;19008531;204339;22171320;22363685;23090970;24275569;25892735;28035807;2833496;28935895;29391424;29557506;29741879;30237853;30459171;31154438;32157095;35016907;35051231;35735979;37074911;37312170;6619141;8093033;9548923;9880564", "class_list": "", "function": "A pan-cancer analysis of the oncogenic and immunological roles of apolipoprotein F (APOF) in human cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Apolipoprotein F concentration, activity, and the properties of LDL controlling ApoF activation in hyperlipidemic plasma., [RefSeq, PubMed]; Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride-rich lipoprotein metabolism., [RefSeq, PubMed]; LTIP tailors CETP-mediated remodeling of HDL3 and HDL2 particles in subclass-specific ways, strongly implicating it as a regulator of HDL metabolism, [RefSeq, PubMed]; Minor apolipoprotein that associates with LDL. Inhibits cholesteryl ester transfer protein (CETP) activity and appears to be an important regulator of cholesterol transport. Also associates to a lesser degree with VLDL, Apo-AI and Apo-AII., [UniProtKB, PubMed]; The product of this gene is one of the minor apolipoproteins found in plasma. This protein forms complexes with lipoproteins and may be involved in transport and/or esterification of cholesterol. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 33, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q8TC13", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005319 lipid transporter activity;GO:0015485 cholesterol binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0034364 high-density lipoprotein particle;GO:0034362 low-density lipoprotein particle", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q13790-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14865-1", "uniprot_id": [ { "id": "ARI5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14865", "type": "external" } ], "mass": 132375.0, "length": 1188, "protein_name": "AT-rich interactive domain-containing protein 5B", "gene_name": "ARID5B", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 5B isoform 2", "refseq_ac": [ { "id": "NP_001231567", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231567", "type": "external" } ], "gene_names_uniprotkb": "ARID5B; DESRT; MRF2", "gene_names_refseq": "ARID5B; DESRT; MRF-2; MRF2", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 5B; ARID domain-containing protein 5B; MRF-2; MRF1-like protein; Modulator recognition factor 2", "protein_names_refseq": "ARID domain-containing protein 5B; AT-rich interactive domain 5B (MRF1-like); AT-rich interactive domain-containing protein 5B isoform 2; MRF1-like protein; modulator recognition factor 2 (MRF2)", "tax_id": 9606, "disease": "acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:84159); (R-HSA-3214842)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10329386;11237011;11478881;15620353;15640446;16362057;16603237;16603238;16732292;16732293;16738407;17081983;17310255;17320163;17351631;17407261;17713478;17947579;18452278;18612189;19502796;19684603;19684604;19727073;19843542;20023638;20042726;20054350;20068231;20084082;20129925;20189245;20208542;20457893;20460642;20622853;20622854;21098271;21532585;22615488;23186163;24275569;24714562;25218447;25548167;25576301;25645385;25755297;25772364;25892735;27600516;28832583;28834231;28904123;29242379;29393594;29557506;29563586;29632046;29632711;29769354;29786170;29789417;30429286;30484775;30524438;31154438;31217245;31492838;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33592498;33691108;33968037;34171305;34932366;35051231;35289036;35580925;36010968;36241641;36284347;37948999;38224186;38665916;38738968;39534244;40596516;9808040", "class_list": "", "function": "ARID5B promoted the histone demethylation of SORBS2 and hampered the metastasis of ovarian cancer., [RefSeq, PubMed]; ARID5B-mediated LINC01128 epigenetically activated pyroptosis and apoptosis by promoting the formation of the BTF3/STAT3 complex in beta2GPI/anti-beta2GPI-treated monocytes., [RefSeq, PubMed]; Confirmed the association of 5 SNPs [rs7073837 (P=4.2 x 10(-4)), rs10994982 (P=3.8 x 10(-4)), rs10740055 (P=1.6 x 10(-5)), rs10821936 (P=1.7 x 10(-7)) and rs7089424 (P=3.6 x 10(-7))] in the ARID5B gene with childhood acute lymphoblastic leukemia GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia., [RefSeq, PubMed]; NMR spectroscopy studies of Mrf-2 in complex with DNA suggest that two flexible interhelical loops, the flexible C-terminal tail, and one alpha-helix are involved in DNA recognition, indicating the importance of protein dynamics in DNA binding., [RefSeq, PubMed]; This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target the PHF2-ARID5B complex to target promoters, where PHF2 mediates demethylation of dimethylated 'Lys-9' of histone H3 (H3K9me2), followed by transcription activation of target genes. The PHF2-ARID5B complex acts as a coactivator of HNF4A in liver. Required for adipogenesis: regulates triglyceride metabolism in adipocytes by regulating expression of adipogenic genes. Overexpression leads to induction of smooth muscle marker genes, suggesting that it may also act as a regulator of smooth muscle cell differentiation and proliferation. Represses the cytomegalovirus enhancer., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DLB3;Q05DG6;Q32Q59;Q5VST4;Q6NZ42;Q7Z3M4;Q8N421;Q9H786", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001889 liver development;GO:0006357 regulation of transcription by RNA polymerase II;GO:0060612 adipose tissue development;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q14865-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495Z4-1", "uniprot_id": [ { "id": "ASAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495Z4", "type": "external" } ], "mass": 20099.0, "length": 193, "protein_name": "Putative uncharacterized protein ASB16-AS1", "gene_name": "ASB16-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ASB16-AS1; C17orf65", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ASB16-AS1; ASB16 antisense RNA 1; ASB16 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "28832583;29242379;29557506;30429286;31848261;33592498", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q495Z5;Q495Z6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q495Z4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53RT3-1", "uniprot_id": [ { "id": "APRV1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53RT3", "type": "external" } ], "mass": 36991.0, "length": 343, "protein_name": "Retroviral-like aspartic protease 1", "gene_name": "ASPRV1", "organism": "Human", "refseq_name": "retroviral-like aspartic protease 1", "refseq_ac": [ { "id": "NP_690005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690005", "type": "external" } ], "gene_names_uniprotkb": "ASPRV1; SASP", "gene_names_refseq": "ADLI; ASPRV1; MUNO; SASPase; SASP; Taps", "protein_names_uniprotkb": "Retroviral-like aspartic protease 1; 3.4.23.-; SASPase; Skin aspartic protease; Skin-specific retroviral-like aspartic protease; TAPS; TPA-inducible aspartic proteinase-like protein", "protein_names_refseq": "TPA-inducible aspartic proteinase-like protein; retroviral-like aspartic protease 1; skin aspartic protease; skin-specific retroviral-like aspartic protease", "tax_id": 9606, "disease": "ichthyosis, lamellar, autosomal dominant (MONDO:MONDO:0007812)", "pathway": " (hsa:151516)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "16098038;16565508;21542132;22318384;24715725;25576301;26375851;26992070;27600516;27726376;28218747;29314611;29437277;30524438;30833945;31092671;31154438;31222486;32350084;32437351;32516568;32640672;32938616;32983136;34171305;34357683;34932366;35051231;35580925;36010968", "class_list": "", "function": "Biochemical Characterization of Human Retroviral-Like Aspartic Protease 1 (ASPRV1). Publication Status: Online-Only, [RefSeq, PubMed]; Filaggrin and filaggrin 2 processing are linked together through skin aspartic acid protease activation. Publication Status: Online-Only, [RefSeq, PubMed]; Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]., [RefSeq]; Identification and characterization of a new member of the aspartic proteases family, a unique epidermal retroviral-like protease, Skin ASpartic Protease., [RefSeq, PubMed]; Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis., [RefSeq, PubMed]; Protease responsible for filaggrin processing, essential for the maintenance of a proper epidermis organization., [UniProtKB, PubMed]; Results failed to find an association between ASPRV1 gene mutations and atopic eczema or clinically dry skin in the European populations studied, [RefSeq, PubMed]; SASPase activity is indispensable for processing profilaggrin and maintaining the texture and hydration of the stratum corneum., [RefSeq, PubMed]; Taps expression is negatively associated with dedifferentiation and malignant progression in squamous cell carcinomas of the skin., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N5P2;Q96LT3;Q96N43", "ec_number_list": [], "go_molecular_function": "GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0016485 protein processing;GO:0043588 skin development", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q53RT3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5I2-1", "uniprot_id": [ { "id": "ARRD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5I2", "type": "external" } ], "mass": 45981.0, "length": 433, "protein_name": "Arrestin domain-containing protein 1", "gene_name": "ARRDC1", "organism": "Human", "refseq_name": "arrestin domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_689498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689498", "type": "external" } ], "gene_names_uniprotkb": "ARRDC1", "gene_names_refseq": "ARRDC1", "protein_names_uniprotkb": "Arrestin domain-containing protein 1; Alpha-arrestin 1", "protein_names_refseq": "alpha-arrestin 1; arrestin domain-containing protein 1 isoform 1; arrestin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92714)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;20112406;21191027;22299025;22315426;23481700;23886940;24714562;25418920;25576301;25645385;26154972;26375851;26728094;26811146;26929215;26992070;27462458;28218747;28514659;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30410026;30429286;30524438;31844290;32157095;32265295;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34499929;34509645;34932366;35051231;35251023;35300565;35318648;35580925;36010968;36241641;39894887", "class_list": "", "function": "Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (PubMed:23886940, PubMed:27462458). Through an ubiquitination-dependent mechanism plays for instance a role in the incorporation of SLC11A2 into extracellular vesicles (PubMed:27462458). More generally, plays a role in the extracellular transport of proteins between cells through the release in the extracellular space of microvesicles (PubMed:22315426). By participating in the ITCH-mediated ubiquitination and subsequent degradation of NOTCH1, negatively regulates the NOTCH signaling pathway (PubMed:23886940)., [UniProtKB, PubMed, PubMed, PubMed]; MicroRNA miR-124-3p suppresses proliferation and epithelial-mesenchymal transition of hepatocellular carcinoma via ARRDC1 (arrestin domain containing 1)., [RefSeq, PubMed]; PAX5-activated lncRNA ARRDC1-AS1 accelerates the autophagy and progression of DLBCL through sponging miR-2355-5p to regulate ATG5., [RefSeq, PubMed]; The authors show that WWP1 changes the ubiquitination status of ARRDC1, suggesting that the arrestins may provide a platform for ubiquitination in PPXY-dependent budding., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:1990763 arrestin family protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0031410 cytoplasmic vesicle;GO:1903561 extracellular vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0006858 extracellular transport;GO:0045746 negative regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8N5I2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68CP9-1", "uniprot_id": [ { "id": "ARID2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68CP9", "type": "external" } ], "mass": 197391.0, "length": 1835, "protein_name": "AT-rich interactive domain-containing protein 2", "gene_name": "ARID2", "organism": "Human", "refseq_name": "AT-rich interactive domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001334768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334768", "type": "external" } ], "gene_names_uniprotkb": "ARID2; BAF200; KIAA1557", "gene_names_refseq": "ARID2; BAF200; CSS6; SMARCF3; ZIPZAP; p200", "protein_names_uniprotkb": "AT-rich interactive domain-containing protein 2; ARID domain-containing protein 2; BAF200; BRG1-associated factor 200; Zinc finger protein with activation potential; Zipzap/p200", "protein_names_refseq": "ARID domain-containing protein 2; AT rich interactive domain 2 (ARID, RFX-like); AT-rich interactive domain-containing protein 2 isoform 2; AT-rich interactive domain-containing protein 2; BRG1-associated factor 200; zinc finger protein with activation potential; zipzap/p200", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); Coffin-Siris syndrome 6 (Disease Ontology:DOID:0080297); alcohol use disorder (Disease Ontology:DOID:1574); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:196528); (R-HSA-3214858); (R-HSA-8939243); (R-HSA-9933939)", "pathway_count": 4, "publication_count": 148, "publication_id_list": "10078207;11237011;11341840;11448779;11747826;11751582;11756452;12672490;15485929;15640446;15985610;16265664;16782067;16917507;17215844;17498659;17898714;18079182;18404153;18669648;18695000;18809673;19234465;19664995;20068231;20506188;20951943;21316606;21774791;22231400;22325351;22464331;22952240;23186163;23301498;23481700;24715725;25576301;25645385;25880248;25892735;26154972;26238514;26365797;26375851;26601204;26768311;26811146;26992070;27600516;27846572;27862975;27920218;28124119;28218747;28228285;28411811;28832583;28834231;28855257;28884947;28904123;29237092;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30059200;30315122;30379171;30397120;30410026;30429286;30524438;30620550;30779550;30833945;31092671;31154438;31217245;31222486;31492838;31530632;31611695;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34465901;34846842;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35580925;36010968;36241641;36284347;37340703;37938771;38243407;38341515;38665916;39054516;39302247;39531497;39534244;40307207;40596516;41507163;8804307;9642256", "class_list": "", "function": "ARID2 mutations may relay a distinct subset of cutaneous melanoma patients with different outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals., [RefSeq, PubMed]; Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Revealing the clinical impact of MTOR and ARID2 gene mutations on MALT lymphoma of the alimentary canal using targeted sequencing. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]., [RefSeq]; Zipzap may serve as a transcription co-activator for the regulation of cardiac gene expression, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 265, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "Q15KG9;Q5EB51;Q645I3;Q6ZRY5;Q7Z3I5;Q86T28;Q96SJ6;Q9HCL5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0016363 nuclear matrix;GO:0000776 kinetochore", "go_biological_process": "GO:2000819 regulation of nucleotide-excision repair;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q68CP9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NXE6-1", "uniprot_id": [ { "id": "ARMC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NXE6", "type": "external" } ], "mass": 54142.0, "length": 501, "protein_name": "Armadillo repeat-containing protein 6", "gene_name": "ARMC6", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001186125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186125", "type": "external" } ], "gene_names_uniprotkb": "ARMC6", "gene_names_refseq": "ARMC6; R30923_1", "protein_names_uniprotkb": "Armadillo repeat-containing protein 6", "protein_names_refseq": "armadillo repeat-containing protein 6 isoform 1; armadillo repeat-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:93436)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;17308301;17525332;20112406;23481700;25418920;25469497;26154972;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29786170;29789417;30315122;30410026;31217245;31844290;32357974;32387766;32488085;32502341;33141586;33298915;33563959;33592498;33633747;33912179;33936100;33968037;34019948;34087483;34211107;35051231;35580925;36010968;36241641;36284347;39029558", "class_list": "", "function": "Human ARMC6 binds in vitro to both cancer genes and telomeric RNA, favoring G-quadruplex structure recognition., [RefSeq, PubMed]; The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DI98;O94999;Q9BTH5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0002244 hematopoietic progenitor cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q6NXE6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3E5-1", "uniprot_id": [ { "id": "ARMC9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3E5", "type": "external" } ], "mass": 91819.0, "length": 818, "protein_name": "LisH domain-containing protein ARMC9", "gene_name": "ARMC9", "organism": "Human", "refseq_name": "lisH domain-containing protein ARMC9 isoform 1", "refseq_ac": [ { "id": "NP_001258395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258395", "type": "external" } ], "gene_names_uniprotkb": "ARMC9; KIAA1868", "gene_names_refseq": "ARMC9; ARM; JBTS30; KU-MEL-1; NS21", "protein_names_uniprotkb": "LisH domain-containing protein ARMC9; Armadillo repeat-containing protein 9; Melanoma/melanocyte-specific tumor antigen KU-MEL-1; NS21", "protein_names_refseq": "armadillo repeat-containing protein 9; armadillo/beta-catenin-like repeats; lisH domain-containing protein ARMC9 isoform 1; lisH domain-containing protein ARMC9; melanoma/melanocyte specific protein KU-MEL-1; melanoma/melanocyte-specific tumor antigen KU-MEL-1", "tax_id": 9606, "disease": "Joubert syndrome 30 (Disease Ontology:DOID:0080275)", "pathway": " (hsa:80210)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "11237011;11691810;21406692;22544926;23033978;23481700;25645385;25892735;26375851;26728094;27862975;28625504;29159890;29242379;29393594;29557506;29769354;29786170;30315122;30395750;30410026;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32453716;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;35051231;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38838015", "class_list": "", "function": "ARMC9 localizes to the basal body of the cilium and is upregulated during ciliogenesis., [RefSeq, PubMed]; Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Acts as a positive regulator of hedgehog (Hh)signaling (By similarity). May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Involved in ciliogenesis. It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length. Acts as a positive regulator of hedgehog (Hh)signaling. May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Our report of variant in ARMC9 Leading to Joubert syndrome phenotype (JS30), elucidates the genetic heterogeneity of Joubert syndrome, and expands the gene list for ciliopathies., [RefSeq, PubMed]; Our study suggests that ARMC9 variants do not play a critical role in the development of Vogt-Koyanagi disease., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A087X1I8;Q53TI3;Q6P162;Q7L594;Q86WG2;Q96JF9;Q9H9R8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005814 centriole;GO:0036064 ciliary basal body;GO:0097542 ciliary tip", "go_biological_process": "GO:0045880 positive regulation of smoothened signaling pathway;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q7Z3E5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z628-1", "uniprot_id": [ { "id": "ARHG8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z628", "type": "external" } ], "mass": 67740.0, "length": 596, "protein_name": "Neuroepithelial cell-transforming gene 1 protein", "gene_name": "NET1", "organism": "Human", "refseq_name": "neuroepithelial cell-transforming gene 1 protein isoform 1", "refseq_ac": [ { "id": "NP_001040625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001040625", "type": "external" } ], "gene_names_uniprotkb": "NET1; ARHGEF8", "gene_names_refseq": "ARHGEF8; NET1A; NET1", "protein_names_uniprotkb": "Neuroepithelial cell-transforming gene 1 protein; Proto-oncogene p65 Net1; Rho guanine nucleotide exchange factor 8", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 8; epididymis secretory sperm binding protein; guanine nucleotide regulatory protein (oncogene); neuroepithelial cell-transforming gene 1 protein isoform 1; neuroepithelial cell-transforming gene 1 protein; neuroepithelioma transforming gene 1; p65 Net1 proto-oncogene protein; small GTP-binding protein regulator", "tax_id": 9606, "disease": "", "pathway": " (hsa:10276); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013026)", "pathway_count": 5, "publication_count": 264, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11278519;11283606;11294240;11313914;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11742120;11756498;11804589;11804590;11884391;11912491;12071859;12093360;12097334;12101119;12123608;12195014;12221077;12221096;12433842;12473120;12515866;12531887;12650940;12857875;12877655;14512443;14673001;15023524;15064355;15107133;15302923;15342493;15470142;15485661;15601624;15611121;15611138;15684429;15699075;15749160;15850391;15866170;15944396;15951850;16112081;16116428;16184169;16212495;16217026;16467373;16519628;16552434;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16959974;17077126;17198702;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18374420;18509476;18577758;18669648;18802007;18829452;19212140;19494238;19605563;19635168;19673492;19690332;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22424782;22661716;22673745;22911862;22992742;23186163;23200924;23255595;23434736;23572525;23783831;23870313;24086303;24128008;24259668;24335996;24352656;24366607;24714562;24933155;25211221;25414122;25418920;25576301;25645385;25673874;25704760;26154972;26371245;26529257;26811146;26887924;26929215;26992070;27072905;27145964;27216196;27481945;27600516;27846572;27862975;27920218;27986909;28063628;28112683;28196833;28218747;28228285;28584191;28832583;28834231;28904123;29146911;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30007591;30429286;31105010;31530632;31844290;31871319;32157095;32203420;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34932366;34957935;35051231;35318648;35494241;35580925;36284347;37171948;38810361;7479768;7673236;7721814;7753201;7937899;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8649828;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9308960;9418861;9490638;9497316;9520479;9535835;9548756;9659915;9670022;9792683;9796816;9822605;9829970", "class_list": "", "function": "Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPase. May be involved in activation of the SAPK/JNK pathway Stimulates genotoxic stress-induced RHOB activity in breast cancer cells leading to their cell death., [UniProtKB, PubMed]; Association between NET-1 Level in Placenta from Preeclampsia Pregnancies and Trophoblast Proliferation and Apoptosis: A Correlation Analysis., [RefSeq, PubMed]; Circ_0000745 promotes acute lymphoblastic leukemia progression through mediating miR-494-3p/NET1 axis., [RefSeq, PubMed]; NET1 has roles in stimulating cytoskeletal reorganization and in transforming cells, [RefSeq, PubMed]; PAK1 negatively regulates the activity of NET1, [RefSeq, PubMed]; SP1-induced circ_0017552 modulates colon cancer cell proliferation and apoptosis via up-regulation of NET1., [RefSeq, PubMed]; The putative role for NET1 genes may provide important targets for intervention in Gastric adenocarcinoma, evidenced by their role in promoting invasion and proliferation, key phenotypic hallmarks of cancer cells., [RefSeq, PubMed]; This gene is part of the family of Rho guanine nucleotide exchange factors. Members of this family activate Rho proteins by catalyzing the exchange of GDP for GTP. The protein encoded by this gene interacts with RhoA within the cell nucleus and may play a role in repairing DNA damage after ionizing radiation. Pseudogenes of this gene are located on the long arms of chromosomes 1, 7 and 18. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q12773;Q96D82;Q99903;Q9UEN6", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0043547 positive regulation of GTPase activity;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 26.5, "record_id": "Q7Z628-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IW93-1", "uniprot_id": [ { "id": "ARHGJ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IW93", "type": "external" } ], "mass": 89197.0, "length": 802, "protein_name": "Rho guanine nucleotide exchange factor 19", "gene_name": "ARHGEF19", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 19", "refseq_ac": [ { "id": "NP_694945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694945", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF19", "gene_names_refseq": "ARHGEF19; WGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 19; Ephexin-2", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 19; ephexin-2; ephexin2; rho guanine nucleotide exchange factor 19; weakly similar to Rho GEF", "tax_id": 9606, "disease": "", "pathway": " (hsa:128272); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 6, "publication_count": 350, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12195014;12221077;12221096;12351724;12432077;12433842;12464619;12515866;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14673001;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15470142;15485661;15507211;15579468;15601624;15611138;15699075;15728722;15749160;15850391;15858067;15866170;15897194;15951850;16002401;16112081;16116428;16184169;16212495;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16923326;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18374420;18396277;18426980;18577758;18653540;18786931;18829452;18835169;18838382;18929667;19212140;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22661716;22673745;22734669;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24405610;24584464;24859002;24933155;24960694;24996924;25024229;25211221;25414122;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28860633;29089502;29146911;29164615;29358323;29382922;29437277;29557506;30007591;30061681;30853411;31105010;31871319;32203420;32357974;32387766;32938616;32993957;33298915;33537174;33981976;34087483;34509645;35051231;36241641;36284347;38714795;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7937899;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9308960;9405671;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9582072;9659915;9670022;9792683;9796816;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "ARHGEF19 regulates MAPK/ERK signaling and promotes the progression of small cell lung cancer., [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPase., [UniProtKB]; Dishevelled2 activates WGEF via its interaction with a unique internal peptide motif of the GEF. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine nucleotide exchange factors (GEFs) such as ARHGEF19 accelerate the GTPase activity of Rho GTPases (see RHOA, MIM 165390).[supplied by OMIM, Dec 2008]., [RefSeq]; Overcomes the suppressive influence of miR-503 in hepatocellular carcinoma cells, [RefSeq, PubMed]; These findings suggest that ARHGEF19 upregulation, due to the low expression of miR-29 in non-small cell lung cancer tissues, may play a crucial role in non-small cell lung cancer tumorigenesis by activating MAPK signaling, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NJ04;Q5TEV2;Q6PJQ4;Q8N244", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0060071 Wnt signaling pathway, planar cell polarity pathway;GO:0042060 wound healing", "synthesized_glycan_count": 0, "hit_score": 35.1, "record_id": "Q8IW93-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEN0-1", "uniprot_id": [ { "id": "ARMC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEN0", "type": "external" } ], "mass": 96867.0, "length": 867, "protein_name": "Armadillo repeat-containing protein 2", "gene_name": "ARMC2", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 2 isoform b", "refseq_ac": [ { "id": "NP_001273538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273538", "type": "external" } ], "gene_names_uniprotkb": "ARMC2", "gene_names_refseq": "ARMC2; SPGF38; bA787I22.1", "protein_names_uniprotkb": "Armadillo repeat-containing protein 2", "protein_names_refseq": "armadillo repeat-containing protein 2 isoform b; armadillo repeat-containing protein 2", "tax_id": 9606, "disease": "spermatogenic failure 38 (Disease Ontology:DOID:0111919); male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:84071)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11230166;11237011;18691976;18978678;20080650;26992070;27600516;29557506;30379171;30429286;30524438;30686508;31844290;33141586;34493464;35051231;36215666;38492154;39894887", "class_list": "", "function": "A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella., [RefSeq, PubMed]; Bi-allelic mutations in ARMC2 cause male infertility in humans and mice by inducing a typical 'multiple morphological abnormalities of the flagella' phenotype, indicating that this gene is necessary for sperm flagellum structure and assembly, [RefSeq, PubMed]; Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Required for sperm flagellum axoneme organization and function (By similarity). Involved in axonemal central pair complex assembly and/or stability (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8Y4;B4DGF5;G5E993;Q5VVY8;Q9H0K9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0044782 cilium organization;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NEN0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBH0-1", "uniprot_id": [ { "id": "ARRD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBH0", "type": "external" } ], "mass": 44379.0, "length": 407, "protein_name": "Arrestin domain-containing protein 2", "gene_name": "ARRDC2", "organism": "Human", "refseq_name": "arrestin domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001020775", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020775", "type": "external" } ], "gene_names_uniprotkb": "ARRDC2; PP2703", "gene_names_refseq": "ARRDC2; CLONE24945; PP2703", "protein_names_uniprotkb": "Arrestin domain-containing protein 2", "protein_names_refseq": "arrestin domain-containing protein 2 isoform 2; arrestin domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:27106)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;15498874;21191027;27862975;30429286;32387766;33298915;33968037;35580925;36010968;36241641;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBG9;O95895;Q6ZRV9;Q8WYG6", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8TBH0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXH4-1", "uniprot_id": [ { "id": "ASB11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXH4", "type": "external" } ], "mass": 35367.0, "length": 323, "protein_name": "Ankyrin repeat and SOCS box protein 11", "gene_name": "ASB11", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 11 isoform b", "refseq_ac": [ { "id": "NP_001012428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012428", "type": "external" } ], "gene_names_uniprotkb": "ASB11", "gene_names_refseq": "ASB11", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 11; ASB-11", "protein_names_refseq": "ASB-11; ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase; ankyrin repeat and SOCS box protein 11 isoform b; ankyrin repeat domain-containing SOCS box protein ASB11", "tax_id": 9606, "disease": "", "pathway": " (hsa:140456); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 140, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23033978;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24337577;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25645385;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28904123;29153394;29557506;29789417;30192525;30610225;31387940;32005965;32157095;32284348;33392160;33444648;35051231;38574733;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "ASB11 is a novel endoplasmic reticulum-associated ubiquitin ligase with the ability to interact and promote the ubiquitination of Ribophorin 1, an integral protein of the oligosaccharyltransferase (OST) glycosylation complex., [RefSeq, PubMed]; Study reveals that different cellular stresses regulate BIK ubiquitination by ASB11 in opposing directions, which determines whether or not cells survive, and that blocking BIK degradation has the potential to be used as an anti-cancer strategy., [RefSeq, PubMed]; Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins, such as BIK, DIRAS2 and RPN1 (PubMed:24337577, PubMed:31387940, PubMed:38574733). The ECS(ASB11) complex acts as a regulator of the endoplasmic reticulum unfolded protein response by mediating ubiquitination and degradation of BIK (PubMed:31387940)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PEN1;Q3SYC4;Q7Z667", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0045732 positive regulation of protein catabolic process;GO:0070979 protein K11-linked ubiquitination;GO:0030968 endoplasmic reticulum unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q8WXH4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXJ9-1", "uniprot_id": [ { "id": "ASB17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXJ9", "type": "external" } ], "mass": 34282.0, "length": 295, "protein_name": "Ankyrin repeat and SOCS box protein 17", "gene_name": "ASB17", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 17", "refseq_ac": [ { "id": "NP_543144", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543144", "type": "external" } ], "gene_names_uniprotkb": "ASB17", "gene_names_refseq": "ASB17; Asb-17", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 17; ASB-17", "protein_names_refseq": "ankyrin repeat and SOCS box protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:127247); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 133, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15204681;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25880248;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;30379171;30610225;31154438;32005965;32284348;33444648;34357683;35174103;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "ASB17 Facilitates the Burst of LPS-Induced Inflammation Through Maintaining TRAF6 Stability. Publication Status: Online-Only, [RefSeq, PubMed]; Expressed exclusively in testis, [RefSeq, PubMed]; May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1APB8;Q8N0X5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0061831 apical ectoplasmic specialization", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.6, "record_id": "Q8WXJ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXK3-1", "uniprot_id": [ { "id": "ASB13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXK3", "type": "external" } ], "mass": 30007.0, "length": 278, "protein_name": "Ankyrin repeat and SOCS box protein 13", "gene_name": "ASB13", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 13", "refseq_ac": [ { "id": "NP_078977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078977", "type": "external" } ], "gene_names_uniprotkb": "ASB13", "gene_names_refseq": "ASB13", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 13; ASB-13", "protein_names_refseq": "ankyrin repeat and SOCS box protein 13; ankyrin repeat domain-containing SOCS box protein Asb-13", "tax_id": 9606, "disease": "", "pathway": " (hsa:79754); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 137, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25576301;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;28115426;29153394;30610225;31530632;32005965;32157095;32284348;32357974;32938616;32983136;33444648;35561310;35580925;39894887;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7Q6;D3DRR2;Q96EP7;Q9H8Z1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q8WXK3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXK4-1", "uniprot_id": [ { "id": "ASB12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXK4", "type": "external" } ], "mass": 33943.0, "length": 309, "protein_name": "Ankyrin repeat and SOCS box protein 12", "gene_name": "ASB12", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 12", "refseq_ac": [ { "id": "NP_569059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_569059", "type": "external" } ], "gene_names_uniprotkb": "ASB12", "gene_names_refseq": "ASB12", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 12; ASB-12", "protein_names_refseq": "ankyrin repeat and SOCS box protein 12; ankyrin repeat domain-containing SOCS box protein Asb-12", "tax_id": 9606, "disease": "", "pathway": " (hsa:142689); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16325183;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28228285;29153394;30610225;31154438;31217245;32005965;32284348;33444648;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3KP57;Q2M3D5;Q52LK4;Q6ISF9;Q8N8F5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q8WXK4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969Q4-1", "uniprot_id": [ { "id": "ARL11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969Q4", "type": "external" } ], "mass": 21391.0, "length": 196, "protein_name": "ADP-ribosylation factor-like protein 11", "gene_name": "ARL11", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 11", "refseq_ac": [ { "id": "NP_612459", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612459", "type": "external" } ], "gene_names_uniprotkb": "ARL11; ARLTS1", "gene_names_refseq": "ARL11; ARLTS1", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 11; ADP-ribosylation factor-like tumor suppressor protein 1", "protein_names_refseq": "ADP ribosylation factor like GTPase 11; ADP-ribosylation factor-like 11; ADP-ribosylation factor-like protein 11; ADP-ribosylation factor-like tumor suppressor gene 1; ADP-ribosylation factor-like tumor suppressor protein 1", "tax_id": 9606, "disease": "chronic lymphocytic leukemia (Disease Ontology:DOID:1040)", "pathway": " (hsa:115761)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "15843669;16353159;16488076;16570116;16581122;16646072;17449901;18337727;18375053;19509554;22028916;23940804;24715725;25880248;26992070;27862975;27866680;28228285;28832583;28904123;29393594;29493099;29786170;30524438;31154438;31844290;31848261;32357974;32502341;32897882;32983136;33717175;34932366;35051231;35561310;35580925;36215666", "class_list": "", "function": "A genetic variant of ARLTS1 predisposes patients to familial cancer. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; A novel tumor suppressor gene [ARLTS1 (ADP-ribosylation factor-like tumor suppressor gene 1)]is found to be altered in human carcinogenesis. It is located in Chromosome 13q14.3. Review article, [RefSeq, PubMed]; A statistically significant (p = 0.0037) decrease of ARLTS1 expression in prostate cancer cases was detected. Publication Status: Online-Only, [RefSeq, PubMed]; ARLTS1 gene mutations can be considered as a potential predisposing factor in familial hematological malignancies, [RefSeq, PubMed]; May play a role in apoptosis. May act as a tumor suppressor., [UniProtKB, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The G446A in ARLTS1 gene is probably not associated with an increased risk of sporadic breast cancer, prostate cancer, melanoma, thyroid papillary cancer or laryngeal cancer GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The study does not support the postulate that variants of ARLTS1 influence the risk of chronic lymphocytic leukemia(CLL). GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q969Q4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C12-1", "uniprot_id": [ { "id": "ARMC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C12", "type": "external" } ], "mass": 97682.0, "length": 935, "protein_name": "Armadillo repeat-containing protein 5", "gene_name": "ARMC5", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 5 isoform a", "refseq_ac": [ { "id": "NP_001098717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098717", "type": "external" } ], "gene_names_uniprotkb": "ARMC5", "gene_names_refseq": "AIMAH2; ARMC5", "protein_names_uniprotkb": "Armadillo repeat-containing protein 5", "protein_names_refseq": "armadillo repeat-containing protein 5 isoform a; armadillo repeat-containing protein 5", "tax_id": 9606, "disease": "ACTH-independent macronodular adrenal hyperplasia 2 (Disease Ontology:DOID:0111624)", "pathway": " (hsa:79798)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;20068231;23186163;23481700;24283224;24601692;24708098;24715725;24905064;25576301;25822102;25853793;26154972;26446392;26604299;26992070;27094308;27920218;28676429;28904123;29242379;29343284;29370219;29557506;29587644;29632711;30779550;31154438;31555754;31844290;31848261;31998317;32023208;32117062;32157095;32387766;32502341;32713866;32934851;32938616;32983136;33105102;33141586;33298915;33544460;33936100;33968037;33971873;33981976;34171305;34211107;35051231;35368666;35687106;35862218;35996143;36241641;36553033;38225631;38555108;38630387;39504960;39667934", "class_list": "", "function": "ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans. Publication Status: Online-Only, [RefSeq, PubMed]; ARMC5 mutations are implicated in clinically severe Cushing's syndrome associated with Macronodular adrenal hyperplasia., [RefSeq, PubMed]; Familial bilateral macronodular adrenal hyperplasia due to a novel ARMC 5 germline mutation: Clinical status and possible association with other neoplasms., [RefSeq, PubMed]; Inherited autosomal dominant mutations in the ARMC5 gene are a frequent cause of primary macronodular adrenal hyperplasia. Biallelic inactivation of ARMC5 is consistent with its role as a potential tumor suppressor gene., [RefSeq, PubMed]; Neuroradiological features of patients with bilateral macronodular adrenocortical disease and meningiomas associated or not with genetic variants of ARMC5- a case series., [RefSeq, PubMed]; Some cases of corticotropin-independent macronodular adrenal hyperplasia appear to be genetic, most often with inactivating mutations of ARMC5., [RefSeq, PubMed]; Substrate-recognition component of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:39504960, PubMed:39667934). The BCR(ARMC5) complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the BCR(ARMC5) complex acts by mediating ubiquitination of Pol II subunit POLR2A phosphorylated at 'Ser-5' of the C-terminal domain (CTD), leading to POLR2A degradation (PubMed:35687106, PubMed:38225631, PubMed:39504960, PubMed:39667934). The BCR(ARMC5) complex acts in parallel of the integrator complex and is specific for RNA Pol II originating from the promoter-proximal zone: it does not ubiquitinate elongation-stalled RNA Pol II (PubMed:39667934). The BCR(ARMC5) complex also acts as a regulator of fatty acid desaturation by mediating ubiquitination and degradation of SCAP-free SREBF1 and SREBF2 (PubMed:35862218). Involved in fetal development, T-cell function and adrenal gland growth homeostasis (PubMed:24283224, PubMed:28676429). Plays a role in steroidogenesis, modulates steroidogenic enzymes expression and cortisol production (PubMed:24283224, PubMed:28676429)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the ARM (armadillo/beta-catenin-like repeat) superfamily. The ARM repeat is a tandemly repeated sequence motif with approximately 40 amino acid long. This repeat is implicated in mediating protein-protein interactions. The encoded protein contains seven ARM repeats. Mutations in this gene are associated with primary bilateral macronodular adrenal hyperplasia, which is also known as ACTH-independent macronodular adrenal hyperplasia 2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q86WM9;Q9H7P8;Q9H925", "ec_number_list": [], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0000785 chromatin", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0009653 anatomical structure morphogenesis;GO:0160240 RNA polymerase II transcription initiation surveillance", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q96C12-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DR7-1", "uniprot_id": [ { "id": "ARHGQ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DR7", "type": "external" } ], "mass": 97346.0, "length": 871, "protein_name": "Rho guanine nucleotide exchange factor 26", "gene_name": "ARHGEF26", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 26 isoform 1", "refseq_ac": [ { "id": "NP_001238891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238891", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF26; HMFN1864; SGEF", "gene_names_refseq": "ARHGEF26; CSGEF; HMFN1864; SGEF", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 26; SH3 domain-containing guanine exchange factor", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 26; SH3 domain-containing guanine exchange factor; Src homology 3 domain-containing guanine nucleotide exchange factor; rho guanine nucleotide exchange factor 26 isoform 1; testicular tissue protein Li 171", "tax_id": 9606, "disease": "", "pathway": " (hsa:26084); (R-HSA-193648); (R-HSA-416482); (R-HSA-9013148); (R-HSA-9013408)", "pathway_count": 5, "publication_count": 269, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10652265;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11283606;11294240;11306516;11313914;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11689693;11696321;11704860;11742120;11756498;11756552;11773441;11804587;11804589;11804590;11864571;11884391;11912491;11948177;11967128;12071859;12093360;12096337;12097334;12101119;12123608;12172552;12177196;12195014;12221096;12351724;12376551;12432077;12433842;12464619;12515866;12531887;12547822;12650940;12697679;12773384;12857875;12860998;12877655;12907671;14506234;14512443;14673001;15023524;15064355;15107133;15133129;15147912;15157669;15221005;15260990;15302923;15304341;15342493;15470142;15485661;15601624;15611138;15699075;15728722;15749160;15850391;15897194;15951850;16112081;16116428;16184169;16212495;16217026;16339170;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16923326;16968698;17027967;17064668;17074883;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17875742;17932950;17976533;18045877;18056264;18218625;18363964;18374420;18426980;18577758;18653540;18786931;18835169;18838382;18929667;19212140;19581409;19605563;19664994;19690332;19713215;19934221;20679435;21148482;21406692;21454492;21542010;21565175;21613211;21621533;21685891;21865595;21989057;22004470;22096251;22298643;22383878;22461490;22571869;22608513;22661716;22734669;22898188;22970203;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24259668;24275569;24335996;24352656;24584464;24659802;24933155;24996924;25024229;25211221;25414122;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;27072905;27096001;27145964;27216196;27481945;27555588;27798618;28028151;28196833;28825699;28860633;29242379;29557506;30007591;30061681;30853411;31154438;31844290;31848261;31871319;32157095;32161166;32203420;32488085;32938616;33968037;33981976;34087483;34171305;34185709;34242364;34849650;35051231;35580925;36010968;36241641;36284347;37938771;7476457;7479768;7512369;7673236;7721814;7753201;7937899;8021274;8537347;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8994827;9013646;9113980;9268338;9305890;9308960;9405671;9438849;9490638;9497316;9520479;9659915;9670022;9796816;9822605;9829970;9843499;9846874", "class_list": "", "function": "ARHGEF26 enhances Salmonella invasion and inflammation in cells and mice. Publication Status: Online-Only, [RefSeq, PubMed]; Activates RhoG GTPase by promoting the exchange of GDP by GTP. Required for the formation of membrane ruffles during macropinocytosis. Required for the formation of cup-like structures during trans-endothelial migration of leukocytes. In case of Salmonella enterica infection, activated by SopB, which induces cytoskeleton rearrangements and promotes bacterial entry., [UniProtKB, PubMed, PubMed, PubMed]; Endothelial ARHGEF26 is an angiogenic factor promoting VEGF signalling., [RefSeq, PubMed]; SGEF gene on chromosome 3q25.2. CSGEF expression controlled by androgen-responsive promoter of SGEF gene. SGEF may be regulator of Rho guanosine triphosphatases. CSGEF may function as regulator of Rho guanosine triphosphatase in prostate, [RefSeq, PubMed]; The invasive capacity of HPV transformed cells requires the hDlg-dependent enhancement of SGEF/RhoG activity., [RefSeq, PubMed]; This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVP8;E9PBD0;Q68CL1;Q6AZ96;Q6Q8Q8;Q96AW8;Q96DR6;Q9H9D7;Q9H9R2;Q9UFW5", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0001726 ruffle", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 27.0, "record_id": "Q96DR7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99929-1", "uniprot_id": [ { "id": "ASCL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99929", "type": "external" } ], "mass": 20185.0, "length": 193, "protein_name": "Achaete-scute homolog 2", "gene_name": "ASCL2", "organism": "Human", "refseq_name": "achaete-scute homolog 2", "refseq_ac": [ { "id": "NP_005161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005161", "type": "external" } ], "gene_names_uniprotkb": "ASCL2; BHLHA45; HASH2", "gene_names_refseq": "ASCL2; ASH2; HASH2; MASH2; bHLHa45", "protein_names_uniprotkb": "Achaete-scute homolog 2; ASH-2; Class A basic helix-loop-helix protein 45; Mash2; bHLHa45; hASH2", "protein_names_refseq": "achaete-scute complex homolog 2; achaete-scute complex-like 2; achaete-scute homolog 2; class A basic helix-loop-helix protein 45; mammalian achaete/scute homologue 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:430)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11440538;12099555;24463518;29393594;29632046;30429286;31848261;32983136;33537174;33628843;33649217;34185709;35580925;35660018;35774798;36008864;8751384;9175731", "class_list": "", "function": "ASCL2 Affects the Efficacy of Immunotherapy in Colon Adenocarcinoma Based on Single-Cell RNA Sequencing Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; ASCL2 reciprocally controls key trophoblast lineage decisions during hemochorial placenta development., [RefSeq, PubMed]; Achaete-scute complex-like 2 regulated inflammatory mechanism through Toll-like receptor 4 activating in stomach adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Potential Mechanism of Immune Evasion Associated with the Master Regulator ASCL2 in Microsatellite Stability in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; TET2-BCLAF1 transcription repression complex epigenetically regulates the expression of colorectal cancer gene Ascl2 via methylation of its promoter., [RefSeq, PubMed]; This gene is a member of the basic helix-loop-helix (BHLH) family of transcription factors. It activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. Involved in the determination of the neuronal precursors in the peripheral nervous system and the central nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor. Binds to E-box motifs 5'-CANNTG-3' in the regulatory elements of target genes, probably as a heterodimer with another basic helix-loop-helix (bHLH) protein such as the transcription factor TCF3. May bind both open and closed chromatin, acting as a pioneer transcription factor to allow other factors to bind and activate lineage-specific genes. Required during post-implantation development for the generation of some differentiated trophoblast cell types. Transcriptional activity of ASCL2 may be antagonised in a subset of trophoblast cells by bHLH transcription factor HAND1, perhaps by competing for dimerization with other bHLH proteins. Involved in differentiation and function of follicular T-helper (Tfh) cells, thereby playing a role in germinal center responses; probably modulates expression of genes involved in Tfh cell function, such as BCL6. May also act as a suppressor of Th1-, Th2- and Th17-cell differentiation. Induces the formation of stem cells in intestinal crypts in vitro, synergistically activating transcription of target genes, such as SOX9, together with TCF4/beta-catenin. May form a bistable transcriptional switch, controlling expression of its own gene together with Wnt/R-spondin signaling, and thereby maintaining stem cell characteristics (By similarity). Modulates expression of target genes, including perhaps down-regulating EGR1/Krox24 and chemokine CXCL10/Mob-1 and up-regulating CXCR4 and CDKN1C/p57kip2, in Schwann cells. May play a role in reducing proliferation of Schwann cells, perhaps acting via modulation of expression of CDKN1C (By similarity). May be dispensable for blastocyst formation and later embryonic function (By similarity). May be involved in the determination of neuronal precursors (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PEY9;Q9UM68", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:2000320 negative regulation of T-helper 17 cell differentiation;GO:0045626 negative regulation of T-helper 1 cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:2000406 positive regulation of T cell migration", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q99929-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0F7-1", "uniprot_id": [ { "id": "ARL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0F7", "type": "external" } ], "mass": 21097.0, "length": 186, "protein_name": "ADP-ribosylation factor-like protein 6", "gene_name": "ARL6", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001265222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265222", "type": "external" } ], "gene_names_uniprotkb": "ARL6; BBS3", "gene_names_refseq": "ARL6; BBS3; RP55", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 6; Bardet-Biedl syndrome 3 protein", "protein_names_refseq": "ADP ribosylation factor like GTPase 6; ADP-ribosylation factor-like protein 6 isoform 1; ARL6 interacting reticulophagy regulator 1; Bardet-Biedl syndrome 3 protein", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); Bardet-Biedl syndrome 1 (Disease Ontology:DOID:0110123); Bardet-Biedl syndrome 3 (Disease Ontology:DOID:0110125); retinitis pigmentosa 55 (Disease Ontology:DOID:0110370); Bardet-Biedl syndrome (Disease Ontology:DOID:1935)", "pathway": " (hsa:84100); (R-HSA-5620922)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11230166;11237011;11252952;15258860;15314642;15944288;17574030;19081074;19236846;19421068;19575670;19956407;20080638;20207729;20233871;20333246;20603001;21427764;22072986;22139371;22389062;22500027;23219996;23351793;24296415;25443296;25446516;25576301;29557506;30429286;31844290;31848261;31939736;32157095;32161166;32357974;32361989;32387766;32502341;32938616;32983136;33592498;33691108;33968037;34211107;34405274;34509645;34932366;37938771;38169538", "class_list": "", "function": "High prevalence of Bardet-Biedl syndrome in La Reunion Island is due to a founder variant in ARL6/BBS3., [RefSeq, PubMed]; Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sorting of specific membrane proteins to the primary cilia (PubMed:20603001). Together with BBS1, is necessary for correct trafficking of PKD1 to primary cilia (By similarity). Together with the BBSome complex and LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation (PubMed:22072986). May regulate cilia assembly and disassembly and subsequent ciliary signaling events such as the Wnt signaling cascade (PubMed:20207729). Isoform 2 may be required for proper retinal function and organization (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Structure and activation mechanism of the BBSome membrane protein trafficking complex. Publication Status: Online-Only, [RefSeq, PubMed]; The Prognostic and Therapeutic Roles of ARL-6 Gene in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]., [RefSeq]; These data demonstrate that the BBS3L transcript is required for proper retinal function and organization. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KA93;D3DN31", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0005543 phospholipid binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006612 protein targeting to membrane;GO:0007601 visual perception;GO:0060271 cilium assembly;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9H0F7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9F9-1", "uniprot_id": [ { "id": "ARP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9F9", "type": "external" } ], "mass": 68297.0, "length": 607, "protein_name": "Actin-related protein 5", "gene_name": "ACTR5", "organism": "Human", "refseq_name": "actin-related protein 5", "refseq_ac": [ { "id": "NP_079131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079131", "type": "external" } ], "gene_names_uniprotkb": "ACTR5; ARP5", "gene_names_refseq": "ACTR5; Arp5; INO80M", "protein_names_uniprotkb": "Actin-related protein 5; Sarcoma antigen NY-SAR-16; hARP5", "protein_names_refseq": "ARP5 actin related protein 5 homolog; INO80 complex subunit M; actin-related protein 5; hARP5; sarcoma antigen NY-SAR-16", "tax_id": 9606, "disease": "", "pathway": " (hsa:79913); (R-HSA-5689603); (R-HSA-5696394)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10391953;11279143;12601173;12732143;12815074;12944386;14742321;15811629;15882621;15964821;16223728;16230350;16473935;16678110;16906146;17139257;17882165;18026119;18163988;18497827;18922472;19014934;19109893;19188440;19609301;19815555;20436459;20805357;20855601;21135142;21303910;21388382;22118460;23045548;23319653;23481700;2530630;25576301;25802875;26375851;26728094;26992070;27600516;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30429286;30833945;31154438;31530632;31844290;31848261;32157095;32357974;32502341;32897882;32938616;32983136;33298915;33717175;33968037;34185709;35051231;35561310;35580925;36010968;36284347;40914422;8168482;9528852;9790970", "class_list": "", "function": "Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair. Involved in DNA double-strand break repair and UV-damage excision repair., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86WF7;Q8IUY5;Q8N724;Q9BRN0;Q9BVB7", "ec_number_list": [], "go_molecular_function": "GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0031011 Ino80 complex", "go_biological_process": "GO:0060382 regulation of DNA strand elongation;GO:0033044 regulation of chromosome organization;GO:0006310 DNA recombination;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9H9F9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ33-1", "uniprot_id": [ { "id": "ASCL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ33", "type": "external" } ], "mass": 20928.0, "length": 181, "protein_name": "Achaete-scute homolog 3", "gene_name": "ASCL3", "organism": "Human", "refseq_name": "achaete-scute homolog 3", "refseq_ac": [ { "id": "NP_065697", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065697", "type": "external" } ], "gene_names_uniprotkb": "ASCL3; BHLHA42; HASH3; SGN1", "gene_names_refseq": "ASCL3; HASH3; SGN1; bHLHa42", "protein_names_uniprotkb": "Achaete-scute homolog 3; ASH-3; Class A basic helix-loop-helix protein 42; bHLH transcriptional regulator Sgn-1; bHLHa42; hASH3", "protein_names_refseq": "achaete-scute complex homolog 3; achaete-scute homolog 3; bHLH transcription factor Sgn-1 (Salivary Glands 1); bHLH transcriptional regulator Sgn-1; class A basic helix-loop-helix protein 42", "tax_id": 9606, "disease": "", "pathway": " (hsa:56676)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11528127;11784080;15475265", "class_list": "", "function": "Basic helix-loop-helix transcription factors, such as ASCL3, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]., [RefSeq]; Transcriptional repressor. Inhibits myogenesis. Plays a role in progenitor cells which differentiate into ductal and acinar, but not myoepithelial, cell lineages in the salivary glands. Involved in the functions of the microvillar cells and Bowman's glands and probably, in a non-cell-autonomous manner, in the development or regeneration of a complete olfactory epithelium (OE)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WYQ6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001894 tissue homeostasis;GO:0007431 salivary gland development", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9NQ33-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR48-1", "uniprot_id": [ { "id": "ASH1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR48", "type": "external" } ], "mass": 332790.0, "length": 2969, "protein_name": "Histone-lysine N-methyltransferase ASH1L", "gene_name": "ASH1L", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase ASH1L isoform 2", "refseq_ac": [ { "id": "NP_060959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060959", "type": "external" } ], "gene_names_uniprotkb": "ASH1L; KIAA1420; KMT2H", "gene_names_refseq": "ASH1L1; ASH1L; ASH1; KMT2H; MRD52", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase ASH1L; 2.1.1.359; 2.1.1.367; ASH1-like protein; Absent small and homeotic disks protein 1 homolog; Lysine N-methyltransferase 2H; huASH1", "protein_names_refseq": "ASH1-like protein; absent small and homeotic disks protein 1 homolog; ash1 (absent, small, or homeotic)-like; histone-lysine N-methyltransferase ASH1L isoform 2; lysine N-methyltransferase 2H; probable histone-lysine N-methyltransferase ASH1L", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); autism spectrum disorder (Disease Ontology:DOID:0060041); autosomal dominant intellectual developmental disorder 52 (Disease Ontology:DOID:0080231); leukemia (Disease Ontology:DOID:1240)", "pathway": " (hsa:55870); (R-HSA-3214841)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10.1101/2023.09.13.557529;10860993;10949293;11237011;11959841;12123582;12130538;12453418;12540855;12670868;14536086;14690610;14992727;15145825;15235609;15964846;16118227;16199523;16292313;16519522;16682010;16805913;17021013;17500065;17544230;17707229;17923682;18172012;18220336;18669648;19808676;21131967;21196496;21239497;21779408;21832073;22099308;22464331;22939622;23033978;23481700;24714562;24715725;25505266;25576301;25593309;25645385;26154972;26375851;26621454;26768311;26797129;26811146;26992070;27600516;27824329;27846572;27862975;28191889;28218747;28228285;28394464;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29786170;29789417;30315122;30379171;30429286;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;35051231;35147301;35307981;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37217939;37527654;37805663;37938771;38884271", "class_list": "", "function": "ASH1L guards cis-regulatory elements against cyclobutane pyrimidine dimer induction., [RefSeq, PubMed]; ASH1L may contribute to the risk of Tourette syndrome: Combination of family-based analysis and case-control study., [RefSeq, PubMed]; Exploration of INSM1 and hASH1 as additional markers in lung cytology samples of high-grade neuroendocrine carcinoma with indeterminate neuroendocrine differentiation., [RefSeq, PubMed]; Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3 (PubMed:21239497). Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). The physiological significance of the H3K9me1 activity is unclear (By similarity)., [UniProtKB, UniProtKB, PubMed]; Histone methyltransferase specifically trimethylating 'Lys-36' of histone H3 forming H3K36me3. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The physiological significance of the H3K9me1 activity is unclear., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MRG15 activates histone methyltransferase activity of ASH1L by recruiting it to the nucleosomes., [RefSeq, PubMed]; The ASH1L-AS1-ASH1L axis controls NME1-mediated activation of the RAS signaling in gastric cancer., [RefSeq, PubMed]; These data suggest that ASH1L occupies most, if not all, active genes and methylates histone H3 in a nonredundant fashion at a subset of genes., [RefSeq, PubMed]; This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q59GP1;Q5T714;Q5T715;Q9P2C7", "ec_number_list": [ { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.366", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.366", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.372", "type": "external" }, { "id": "2.1.1.355", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.355", "type": "external" }, { "id": "2.1.1.354", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.354", "type": "external" }, { "id": "2.1.1.362", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.362", "type": "external" }, { "id": "2.1.1.361", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.361", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042800 histone H3K4 methyltransferase activity;GO:0046975 histone H3K36 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005923 bicellular tight junction;GO:0016604 nuclear body;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q9NR48-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWX5-1", "uniprot_id": [ { "id": "ASB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWX5", "type": "external" } ], "mass": 47136.0, "length": 421, "protein_name": "Ankyrin repeat and SOCS box protein 6", "gene_name": "ASB6", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 6 isoform 3", "refseq_ac": [ { "id": "NP_001189332", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189332", "type": "external" } ], "gene_names_uniprotkb": "ASB6", "gene_names_refseq": "ASB6", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 6; ASB-6", "protein_names_refseq": "ankyrin repeat and SOCS box protein 6 isoform 3; ankyrin repeat and SOCS box protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:140459); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 185, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16325183;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24714562;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25645385;26154972;26344709;26460955;26632597;26728094;26811146;26906416;26992070;27030794;27222660;27565346;27600516;28115426;28218747;28228285;28514659;28832583;28834231;28904123;29153394;29242379;29393594;29437277;29493099;29557506;29786170;30315122;30524438;30610225;30779550;31154438;31222486;31844290;31848261;31937595;32005965;32157095;32161166;32265295;32284348;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33444648;33592498;33912179;33936100;33968037;33981976;34087483;34164402;34171305;34509645;35051231;35580925;36010968;36215666;36241641;36446779;37938771;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "M[6]A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. May play a role in the regulation of cell proliferation and autophagy by promoting the ubiquitination and degradation of SQSTM1 (PubMed:34164402)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5SZB7;Q9BV15", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "Q9NWX5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX46-1", "uniprot_id": [ { "id": "ADPRS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX46", "type": "external" } ], "mass": 38947.0, "length": 363, "protein_name": "ADP-ribosylhydrolase ARH3", "gene_name": "ADPRS", "organism": "Human", "refseq_name": "ADP-ribosylhydrolase ARH3", "refseq_ac": [ { "id": "NP_060295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060295", "type": "external" } ], "gene_names_uniprotkb": "ADPRS; ADPRHL2; ARH3", "gene_names_refseq": "ADPRHL2; ADPRS; ARH3; CONDSIAS", "protein_names_uniprotkb": "ADP-ribosylhydrolase ARH3; 3.2.1.143; 3.2.2.-; 3.5.1.-; ADP-ribose glycohydrolase ARH3; ADP-ribosylhydrolase 3; O-acetyl-ADP-ribose deacetylase ARH3; Poly(ADP-ribose) glycohydrolase ARH3; [Protein ADP-ribosylarginine] hydrolase-like protein 2; [Protein ADP-ribosylserine] hydrolase", "protein_names_refseq": "ADP-ribose glycohydrolase ARH3; ADP-ribosylarginine hydrolase like 2; ADP-ribosylhydrolase 3; ADP-ribosylhydrolase ARH3; ADP-ribosylhydrolase like 2; O-acetyl-ADP-ribose deacetylase ARH3; [Protein ADP-ribosylarginine] hydrolase-like protein 2; [Protein ADP-ribosylserine] hydrolase; poly(ADP-ribose) glycohydrolase ARH3; protein ADP-ribosylarginine hydrolase-like protein 2", "tax_id": 9606, "disease": "stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (Disease Ontology:DOID:0070352)", "pathway": " (hsa:54936); (R-HSA-110362)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10364231;11340072;11440997;11554294;12070318;12200445;12727891;15135726;15193131;15561706;15607977;15731342;16278211;16511307;17015823;17075046;17327674;17548475;17991898;19329425;19778542;20573551;21183466;21398629;21498885;21892188;22223895;22433848;23186163;23481700;25892735;26811146;27846572;28063628;28510447;28650317;28832583;29234005;29242379;29480802;29493099;29557506;29632711;29769354;29786170;29907568;30045870;30100084;30401461;30429286;30830864;31599159;31844290;31848261;32157095;32357974;32387766;32488085;32938616;32983136;33186521;33592498;33717175;33769608;33894202;33936100;33968037;34019811;34321462;34479984;34625544;34932366;35051231;35154160;35561310;35580925;36010968;36284347;37268618;37938771;38365196;6278323;8003475;8264597;8663274;9214649;9685411;9804757", "class_list": "", "function": "ADP-ribosylhydrolase that preferentially hydrolyzes the scissile alpha-O-linkage attached to the anomeric C1'' position of ADP-ribose and acts on different substrates, such as proteins ADP-ribosylated on serine and threonine, free poly(ADP-ribose) and O-acetyl-ADP-D-ribose (PubMed:21498885, PubMed:29907568, PubMed:30045870, PubMed:30401461, PubMed:30830864, PubMed:33186521, PubMed:33769608, PubMed:33894202, PubMed:34019811, PubMed:34321462, PubMed:34479984, PubMed:34625544). Specifically acts as a serine mono-ADP-ribosylhydrolase by mediating the removal of mono-ADP-ribose attached to serine residues on proteins, thereby playing a key role in DNA damage response (PubMed:28650317, PubMed:29234005, PubMed:30045870, PubMed:33186521, PubMed:34019811, PubMed:34625544). Serine ADP-ribosylation of proteins constitutes the primary form of ADP-ribosylation of proteins in response to DNA damage (PubMed:29480802, PubMed:33186521, PubMed:34625544). Does not hydrolyze ADP-ribosyl-arginine, -cysteine, -diphthamide, or -asparagine bonds (PubMed:16278211, PubMed:33769608). Also able to degrade protein free poly(ADP-ribose), which is synthesized in response to DNA damage: free poly(ADP-ribose) acts as a potent cell death signal and its degradation by ADPRHL2 protects cells from poly(ADP-ribose)-dependent cell death, a process named parthanatos (PubMed:16278211). Also hydrolyzes free poly(ADP-ribose) in mitochondria (PubMed:22433848). Specifically digests O-acetyl-ADP-D-ribose, a product of deacetylation reactions catalyzed by sirtuins (PubMed:17075046, PubMed:21498885). Specifically degrades 1''-O-acetyl-ADP-D-ribose isomer, rather than 2''-O-acetyl-ADP-D-ribose or 3''-O-acetyl-ADP-D-ribose isomers (PubMed:21498885)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ARH3 has poly(ADP-ribose) glycohydrolase activity but is structurally unrelated to poly(ADP-ribose) glycohydrolase, [RefSeq, PubMed]; Cloning, recombinant production, purification and crystallization of ARH3 consisting of 347 amino-acid residues, [RefSeq, PubMed]; Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature., [RefSeq, PubMed]; Poly(ADP-ribose) glycohydrolase ARH3 hydrolyzed O-acetyl-ADP-ribose to produce ADP-ribose in a time- and Mg(2+)-dependent reaction and thus could participate in two signaling pathways, [RefSeq, PubMed]; The molecular architecture of human ARH3 constitutes the archetype of an all-alpha-helical protein fold and suggests reversibility mechanisms of protein ADP-ribosylation., [RefSeq, PubMed]; The regulatory landscape of the human HPF1- and ARH3-dependent ADP-ribosylome. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in addition to the nucleus and cytoplasm.[provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 32, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53G94;Q6IAB8;Q9BY47", "ec_number_list": [ { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" }, { "id": "3.2.2.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.19", "type": "external" }, { "id": "3.2.1.143", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.143", "type": "external" }, { "id": "3.1.1.106", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.106", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds;GO:0004649 poly(ADP-ribose) glycohydrolase activity;GO:0061463 O-acetyl-ADP-ribose deacetylase activity;GO:0140292 ADP-ribosylserine hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006287 base-excision repair, gap-filling;GO:0006281 DNA repair;GO:0060546 negative regulation of necroptotic process;GO:0071451 cellular response to superoxide;GO:0140290 peptidyl-serine ADP-deribosylation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9NX46-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1U1-1", "uniprot_id": [ { "id": "ARP3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1U1", "type": "external" } ], "mass": 47608.0, "length": 418, "protein_name": "Actin-related protein 3B", "gene_name": "ACTR3B", "organism": "Human", "refseq_name": "actin-related protein 3B isoform 2", "refseq_ac": [ { "id": "NP_001035225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035225", "type": "external" } ], "gene_names_uniprotkb": "ACTR3B; ARP11; ARP4", "gene_names_refseq": "ACTR3B; ARP11; ARP3BETA", "protein_names_uniprotkb": "Actin-related protein 3B; ARP3-beta; Actin-like protein 3B; Actin-related protein ARP4", "protein_names_refseq": "ARP3 actin related protein 3 homolog B; ARP3-beta; actin-like protein 3B; actin-related protein 3-beta; actin-related protein 3B isoform 2; actin-related protein ARP4; actin-related protein Arp11", "tax_id": 9606, "disease": "", "pathway": " (hsa:57180)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10806390;11162478;14651955;24397554;25418920;25892735;27397612;27846572;27920218;28832583;29437277;29557506;29789417;31844290;32502341;33298915;33392160;35051231;35561310;36580660", "class_list": "", "function": "Plays a role in the organization of the actin cytoskeleton. May function as ATP-binding component of the Arp2/3 complex which is involved in regulation of actin polymerization and together with an activating nucleation-promoting factor (NPF) mediates the formation of branched actin networks. May decrease the metastatic potential of tumors., [UniProtKB, PubMed]; This gene encodes a member of the actin-related proteins (ARP), which form multiprotein complexes and share 35-55% amino acid identity with conventional actin. The protein encoded by this gene may have a regulatory role in the actin cytoskeleton and induce cell-shape change and motility. Pseudogenes of this gene are located on chromosomes 2, 4, 10, 16, 22 and Y. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]; Thus, overexpression of Arp11 may suppress tumorigenicity in nude mice., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MTG1;B4DFW4;Q7Z526;Q96BT2", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0015629 actin cytoskeleton;GO:0030027 lamellipodium;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9P1U1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P291-1", "uniprot_id": [ { "id": "ARMX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P291", "type": "external" } ], "mass": 49180.0, "length": 453, "protein_name": "Armadillo repeat-containing X-linked protein 1", "gene_name": "ARMCX1", "organism": "Human", "refseq_name": "armadillo repeat-containing X-linked protein 1", "refseq_ac": [ { "id": "NP_057692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057692", "type": "external" } ], "gene_names_uniprotkb": "ARMCX1; AD032; ALEX1", "gene_names_refseq": "ALEX1; ARMCX1; GASP7", "protein_names_uniprotkb": "Armadillo repeat-containing X-linked protein 1; ARM protein lost in epithelial cancers on chromosome X 1; Protein ALEX1", "protein_names_refseq": "ARM protein lost in epithelial cancers on chromosome X 1; arm protein lost in epithelial cancers, X chromosome, 1; armadillo repeat-containing X-linked protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51309)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11162520;20112406;20398052;22494058;25576301;27600516;27846572;28832583;29242379;29557506;30429286;30907988;31154438;31844290;32157095;32387766;32488085;32685472;32938616;32983136;33141586;33592498;33968037;35051231;35580925;36726491;37938771", "class_list": "", "function": "ARMCX Family Gene Expression Analysis and Potential Prognostic Biomarkers for Prediction of Clinical Outcome in Patients with Gastric Carcinoma. Erratum:[Biomed Res Int. 2021 Feb 9;2021:3179693. doi: 10.1155/2021/3179693. PMID: 33644226] Publication Status: Online-Only, [RefSeq, PubMed]; Findings suggest that overexpression of ALEX1 (armadillo repeat containing, X-linked [ARMCX]) plays a negative role in colorectal tumorigenesis., [RefSeq, PubMed]; Human Arm protein lost in epithelial cancers, on chromosome X 1 (ALEX1) gene is transcriptionally regulated by CREB and Wnt/beta-catenin signaling., [RefSeq, PubMed]; Regulates mitochondrial transport during axon regeneration. Increases the proportion of motile mitochondria by recruiting stationary mitochondria into the motile pool. Enhances mitochondria movement and neurite growth in both adult axons and embryonic neurons. Promotes neuronal survival and axon regeneration after nerve injury. May link mitochondria to the Trak1-kinesin motor complex via its interaction with MIRO1., [UniProtKB, UniProtKB]; The Expression of ARMCX1 in Gastric Cancer Contributes to Prognosis and Influences Chemotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]., [RefSeq]; Up-regulation of ALEX1 effectively rescued the cell apoptosis induced by miR-106b inhibitor and promoted the expression levels of phosphorylation of JAK1 and STAT3., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53HK2;Q9H2Q0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:1904115 axon cytoplasm", "go_biological_process": "GO:0019896 axonal transport of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9P291-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y294-1", "uniprot_id": [ { "id": "ASF1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y294", "type": "external" } ], "mass": 22969.0, "length": 204, "protein_name": "Histone chaperone ASF1A", "gene_name": "ASF1A", "organism": "Human", "refseq_name": "histone chaperone ASF1A", "refseq_ac": [ { "id": "NP_054753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054753", "type": "external" } ], "gene_names_uniprotkb": "ASF1A; CGI-98; HSPC146", "gene_names_refseq": "ASF1A; CGI-98; CIA; HSPC146", "protein_names_uniprotkb": "Histone chaperone ASF1A; Anti-silencing function protein 1 homolog A; CCG1-interacting factor A; CIA; hAsf1a; hAsf1; hCIA", "protein_names_refseq": "ASF1 anti-silencing function 1 homolog A; CCG1-interacting factor A; anti-silencing function protein 1 homolog A; hAsf1a; hAsf1; hCIA; histone chaperone ASF1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:25842); (R-HSA-2559584)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10759893;11230166;11470414;11897662;12093919;12842904;14680630;14718166;15621527;15655109;15664198;15840725;16151251;16901784;16980972;17158953;17242198;17242207;17292837;18452278;18669648;19029251;19413330;19562805;19651622;20016786;20068231;21454524;21807893;22195965;22407294;23301498;23481700;23964094;24598821;24616510;25576301;26992070;27600516;27920218;28218747;28228285;28832583;28834231;29242379;29408485;29478807;29493099;29632711;29786170;30315122;30429286;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33503415;33592498;34087483;34932366;35136069;35177609;35472331;35580925;36184659;36241641;37938771;38561384;39894887", "class_list": "", "function": "Histone chaperone ASF1 acts with RIF1 to promote DNA end joining in BRCA1-deficient cells., [RefSeq, PubMed]; Histone chaperone ASF1A accelerates chronic myeloid leukemia blast crisis by activating Notch signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly (PubMed:10759893, PubMed:11897662, PubMed:12842904, PubMed:14718166, PubMed:15664198, PubMed:16151251, PubMed:21454524). Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly (PubMed:11897662, PubMed:14718166, PubMed:15664198). Promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks: acts by mediating histone replacement at DSBs, leading to recruitment of the MMS22L-TONSL complex and subsequent loading of RAD51 (PubMed:29478807). Also involved in the nuclear import of the histone H3-H4 dimer together with importin-4 (IPO4): specifically recognizes and binds newly synthesized histones with the monomethylation of H3 'Lys-9' and acetylation at 'Lys-14' (H3K9me1K14ac) marks, and diacetylation at 'Lys-5' and 'Lys-12' of H4 (H4K5K12ac) marks in the cytosol (PubMed:21454524, PubMed:29408485). Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit (PubMed:15621527)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of ASF1A and HJURP by global H3-H4 histone chaperone analysis as a prognostic two-gene model in hepatocellular carcinoma. Erratum:[Sci Rep. 2024 Sep 5;14(1):20726. doi: 10.1038/s41598-024-71753-0. PMID: 39251799] Publication Status: Online-Only, [RefSeq, PubMed]; Model is proposed in which the synergism between hAsf1 and CAF-1 for nucleosome formation during DNA repair is achieved through a transient physical interaction allowing histone delivery from Asf1 to CAF-1, [RefSeq, PubMed]; RIF1-ASF1-mediated high-order chromatin structure safeguards genome integrity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair. [provided by RefSeq, Jul 2008]., [RefSeq]; Tousled-like kinase 2 targets ASF1 histone chaperones through client mimicry. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IA08;Q9P014", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding;GO:0140713 histone chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0035861 site of double-strand break;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0006334 nucleosome assembly;GO:0006335 DNA replication-dependent chromatin assembly;GO:0031297 replication fork processing", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9Y294-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2Y0-1", "uniprot_id": [ { "id": "AR2BP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2Y0", "type": "external" } ], "mass": 18822.0, "length": 163, "protein_name": "ADP-ribosylation factor-like protein 2-binding protein", "gene_name": "ARL2BP", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 2-binding protein", "refseq_ac": [ { "id": "NP_036238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036238", "type": "external" } ], "gene_names_uniprotkb": "ARL2BP; BART1; BART", "gene_names_refseq": "ARL2BP; BART1; BART; RP66; RP82", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 2-binding protein; ARF-like 2-binding protein; ARL2-binding protein; Binder of ARF2 protein 1", "protein_names_refseq": "ADP ribosylation factor like GTPase 2 binding protein; ADP-ribosylation factor like 2 binding protein; ADP-ribosylation factor-like protein 2-binding protein; ARF-like 2-binding protein; ARL2-binding protein; Arf-like 2 binding protein BART1; binder of ARF2 protein 1; binder of Arl Two; binder of Arl2; retinitis pigmentosa 66 (autosomal recessive)", "tax_id": 9606, "disease": "retinitis pigmentosa with or without situs inversus (Disease Ontology:DOID:0110419); male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:23568); (R-HSA-83936)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10455109;10488091;11032837;11237011;11303027;11809823;11847227;15448143;15701636;16525022;16873718;17525332;18234692;18940313;18981177;18991276;19368893;23849777;24366607;24715725;24911211;25576301;25880248;25892735;26154972;2648994;26992070;27790702;27846572;27920218;28228285;28514659;28832583;28904123;29242379;29493099;29557506;29632711;29769354;29786170;30315122;30779550;30833945;30945270;31217245;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33438581;33537174;33592498;33912179;33968037;33981976;34171305;34185709;34681596;34932366;35051231;35580925;36010968;36284347;37938771;5840415;5857365;8986748;9124315;9435697;9478986;9587671", "class_list": "", "function": "ADP-ribosylation factor (ARF)-like proteins (ARLs) comprise a functionally distinct group of the ARF family of RAS-related GTPases. The protein encoded by this gene binds to ARL2.GTP with high affinity but does not interact with ARL2.GDP, activated ARF, or RHO proteins. The lack of detectable membrane association of this protein or ARL2 upon activation of ARL2 is suggestive of actions distinct from those of the ARFs. This protein is considered to be the first ARL2-specific effector identified, due to its interaction with ARL2.GTP but lack of ARL2 GTPase-activating protein activity. [provided by RefSeq, Jul 2008]., [RefSeq]; ARL3 activation requires the co-GEF BART and effector-mediated turnover. Publication Status: Online-Only, [RefSeq, PubMed]; Epstein-Barr Virus miR-BART1-3p Regulates the miR-17-92 Cluster by Targeting E2F3. Publication Status: Online-Only, [RefSeq, PubMed]; Together with ARL2, plays a role in the nuclear translocation, retention and transcriptional activity of STAT3. May play a role as an effector of ARL2., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQJ5;Q504R0", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix;GO:0005813 centrosome;GO:0005819 spindle", "go_biological_process": "GO:0007165 signal transduction;GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein;GO:0051457 maintenance of protein location in nucleus", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9Y2Y0-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y575-1", "uniprot_id": [ { "id": "ASB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y575", "type": "external" } ], "mass": 57745.0, "length": 518, "protein_name": "Ankyrin repeat and SOCS box protein 3", "gene_name": "ASB3", "organism": "Human", "refseq_name": "GPR75-ASB3 protein", "refseq_ac": [ { "id": "NP_001157637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157637", "type": "external" } ], "gene_names_uniprotkb": "ASB3", "gene_names_refseq": "GPR75-ASB3", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 3; ASB-3", "protein_names_refseq": "GPR75-ASB3 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:100302652); (hsa:51130); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 195, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11111040;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;15899873;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22424782;22466964;22537386;22544926;2261476;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25645385;25892735;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;27893789;27920218;28063628;28115426;28218747;28228285;28514659;28832583;28904123;29153394;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30524438;30610225;31844290;32005965;32157095;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34509645;34561969;34932366;35051231;35561310;35580925;36010968;36241641;36581221;37938771;39162488;39266719;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B (PubMed:15899873). Plays a role in the down-regulation of antiviral innate immunity by targeting MAVS for ubiquitin-proteasomal degradation (PubMed:39266719). Also destabilizes TRAF6 by enhancing its 'Lys-48'-linked polyubiquitination (PubMed:39162488)., [UniProtKB, PubMed, PubMed, PubMed]; This locus represents naturally occurring read-through transcription between the neighboring GPR75 (G protein-coupled receptor 75) and ASB3 (ankyrin repeat and SOCS box containing 3) on chromosome 2. The transcript includes exons from both GPR75 and ASB3 and translation initiates in the 5' non-coding exon of GPR75. The resulting protein has a novel N-terminus but is otherwise identical to that encoded by ASB3.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPA3;D6W5B4;D6W5B5;G8JLA9;Q2TAI4;Q53TN0;Q53TN8;Q9NVZ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "Q9Y575-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02656-1", "uniprot_id": [ { "id": "APOC3_HUMAN", "url": "https://www.uniprot.org/uniprot/P02656", "type": "external" } ], "mass": 10852.0, "length": 99, "protein_name": "Apolipoprotein C-III", "gene_name": "APOC3", "organism": "Human", "refseq_name": "apolipoprotein C-III precursor", "refseq_ac": [ { "id": "NP_000031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000031", "type": "external" } ], "gene_names_uniprotkb": "APOC3", "gene_names_refseq": "APOC3; APOCIII; Apo-C3; ApoC-3", "protein_names_uniprotkb": "Apolipoprotein C-III; Apo-CIII; ApoC-III; Apolipoprotein C3", "protein_names_refseq": "apolipoprotein C-III precursor; apolipoprotein C-III", "tax_id": 9606, "disease": "lupus nephritis (Disease Ontology:DOID:0080162); apolipoprotein C-III deficiency (Disease Ontology:DOID:0111370); glucose intolerance (Disease Ontology:DOID:10603); open-angle glaucoma (Disease Ontology:DOID:1067); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); nephrotic syndrome (Disease Ontology:DOID:1184); cholestasis (Disease Ontology:DOID:13580); familial combined hyperlipidemia (Disease Ontology:DOID:13809); hypothyroidism (Disease Ontology:DOID:1459); cognitive disorder (Disease Ontology:DOID:1561); breast cancer (Disease Ontology:DOID:1612); nephroblastoma (Disease Ontology:DOID:2154); renal artery obstruction (Disease Ontology:DOID:2972); hyperlipoproteinemia type III (Disease Ontology:DOID:3145); coronary artery disease (Disease Ontology:DOID:3393); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); hyperthyroidism (Disease Ontology:DOID:7998); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:345); (R-HSA-8963888); (R-HSA-8963901); (R-HSA-8964058); (R-HSA-975634)", "pathway_count": 5, "publication_count": 115, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10052934;10769148;11060341;11181758;11237011;11274389;12518019;12692552;1279089;14559902;14732096;15108119;15358783;1542003;15583000;15994327;16200213;16326978;16939223;16968945;17237796;17525477;17644776;18087047;18201179;18295589;18408013;18460466;1848237;18507396;1856611;19014918;19139408;19413330;19567873;19838169;2022742;208636;21106934;21851338;22171320;22510806;23234360;23527852;23584533;24106281;24417605;25502872;26598643;26992070;27726376;27862975;2793848;28035807;2833496;28832583;29557506;29632711;29786170;2989400;30429286;31154438;3123586;31611695;31844290;32157095;32350084;32488085;32983136;33091337;33592498;34171305;34185709;34433824;35051231;35251023;35580925;36284347;3714052;37938771;38039351;38151342;38232538;38665916;38791405;39173944;3942763;3949020;4335615;4340992;4345202;4360812;4846755;5057882;5675424;5865378;6328445;6420172;6439535;6548954;6619141;6961410;7295752;7683668;8017323;8300609;8384721;8626595;8728311;9829992;9888420;9920938;9925661", "class_list": "", "function": "A novel lncRNA GM47544 modulates triglyceride metabolism by inducing ubiquitination-dependent protein degradation of APOC3., [RefSeq, PubMed]; Apolipoprotein C3 (ApoC3) facilitates NLRP3 mediated pyroptosis of macrophages through mitochondrial damage by accelerating of the interaction between SCIMP and SYK pathway in acute lung injury., [RefSeq, PubMed]; Apolipoprotein-CIII O-Glycosylation Is Associated with Micro- and Macrovascular Complications of Type 2 Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Component of triglyceride-rich very low density lipoproteins (VLDL) and high density lipoproteins (HDL) in plasma (PubMed:18201179, PubMed:22510806). Plays a multifaceted role in triglyceride homeostasis (PubMed:18201179, PubMed:22510806). Intracellularly, promotes hepatic very low density lipoprotein 1 (VLDL1) assembly and secretion; extracellularly, attenuates hydrolysis and clearance of triglyceride-rich lipoproteins (TRLs) (PubMed:18201179, PubMed:22510806). Impairs the lipolysis of TRLs by inhibiting lipoprotein lipase and the hepatic uptake of TRLs by remnant receptors (PubMed:18201179, PubMed:22510806). Formed of several curved helices connected via semiflexible hinges, so that it can wrap tightly around the curved micelle surface and easily adapt to the different diameters of its natural binding partners (PubMed:18408013)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Exploring apolipoprotein C-III: pathophysiological and pharmacological relevance. Review article, [RefSeq, PubMed]; This gene encodes a protein component of triglyceride (TG)-rich lipoproteins (TRLs) including very low density lipoproteins (VLDL), high density lipoproteins (HDL) and chylomicrons. The encoded protein plays a role in role in the metabolism of these TRLs through multiple modes. This protein has been shown to promote the secretion of VLDL1, inhibit lipoprotein lipase enzyme activity, and delay catabolism of TRL remnants. Mutations in this gene are associated with low plasma triglyceride levels and reduced risk of ischemic cardiovascular disease, and hyperalphalipoproteinemia, which is characterized by elevated levels of high density lipoprotein (HDL) and HDL cholesterol in human patients. This gene and other related genes comprise an apolipoprotein gene cluster on chromosome 11. [provided by RefSeq, Sep 2017]., [RefSeq]; [The role of apolipoprotein C3 in the regulation of nonalcoholic fatty liver disease, glucose and lipid metabolism, and islet beta cell function]. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 28, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q08E83;Q6Q786", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0015485 cholesterol binding;GO:0055102 lipase inhibitor activity;GO:0070653 high-density lipoprotein particle receptor binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0034363 intermediate-density lipoprotein particle;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006641 triglyceride metabolic process;GO:0007186 G protein-coupled receptor signaling pathway;GO:0033700 phospholipid efflux;GO:0042157 lipoprotein metabolic process;GO:0045717 negative regulation of fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P02656-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02649-1", "uniprot_id": [ { "id": "APOE_HUMAN", "url": "https://www.uniprot.org/uniprot/P02649", "type": "external" } ], "mass": 36154.0, "length": 317, "protein_name": "Apolipoprotein E", "gene_name": "APOE", "organism": "Human", "refseq_name": "apolipoprotein E isoform b precursor", "refseq_ac": [ { "id": "NP_000032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000032", "type": "external" } ], "gene_names_uniprotkb": "APOE", "gene_names_refseq": "AD2; APO-E; APOE; ApoE4; LDLCQ5; LPG", "protein_names_uniprotkb": "Apolipoprotein E; Apo-E", "protein_names_refseq": "apolipoprotein E isoform b precursor; apolipoprotein E3", "tax_id": 9606, "disease": "primary cutaneous amyloidosis (Disease Ontology:DOID:0050639); glomerulosclerosis (Disease Ontology:DOID:0050851); left ventricular failure (Disease Ontology:DOID:0051064); herpes simplex virus keratitis (Disease Ontology:DOID:0080158); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); age related macular degeneration 1 (Disease Ontology:DOID:0110014); Alzheimer's disease 2 (Disease Ontology:DOID:0110035); Alzheimer's disease 3 (Disease Ontology:DOID:0110042); sensorineural hearing loss (Disease Ontology:DOID:10003); cholelithiasis (Disease Ontology:DOID:10211); aortic atherosclerosis (Disease Ontology:DOID:10230); Alzheimer's disease (Disease Ontology:DOID:10652); open-angle glaucoma (Disease Ontology:DOID:1067); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); membranous glomerulonephritis (Disease Ontology:DOID:10976); sciatic neuropathy (Disease Ontology:DOID:11446); familial hyperlipidemia (Disease Ontology:DOID:1168); nephrotic syndrome (Disease Ontology:DOID:1184); Lewy body dementia (Disease Ontology:DOID:12217); beta thalassemia (Disease Ontology:DOID:12241); malaria (Disease Ontology:DOID:12365); Sjogren's syndrome (Disease Ontology:DOID:12894); dilated cardiomyopathy (Disease Ontology:DOID:12930); low tension glaucoma (Disease Ontology:DOID:13544); angle-closure glaucoma (Disease Ontology:DOID:13550); cholestasis (Disease Ontology:DOID:13580); exfoliation syndrome (Disease Ontology:DOID:13641); familial combined hyperlipidemia (Disease Ontology:DOID:13809); familial hypercholesterolemia (Disease Ontology:DOID:13810); Parkinson's disease (Disease Ontology:DOID:14330); hypothyroidism (Disease Ontology:DOID:1459); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); hyperuricemia (Disease Ontology:DOID:1920); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); gallbladder cancer (Disease Ontology:DOID:3121); hyperlipoproteinemia type III (Disease Ontology:DOID:3145); atopic dermatitis (Disease Ontology:DOID:3310); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); lung carcinoma (Disease Ontology:DOID:3905); sea-blue histiocytosis (Disease Ontology:DOID:4423); macular degeneration (Disease Ontology:DOID:4448); bile duct cancer (Disease Ontology:DOID:4606); retinal disease (Disease Ontology:DOID:5679); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); cerebrovascular disease (Disease Ontology:DOID:6713); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); herpes simplex (Disease Ontology:DOID:8566); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); hyperhomocysteinemia (Disease Ontology:DOID:9279); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); lipoprotein glomerulopathy (MONDO:MONDO:0012725)", "pathway": " (hsa:348); (R-HSA-1251985); (R-HSA-3000480); (R-HSA-381426); (R-HSA-8864260); (R-HSA-8957275); (R-HSA-8963888); (R-HSA-8963901); (R-HSA-8964026); (R-HSA-8964058); (R-HSA-9029569); (R-HSA-975634); (R-HSA-977225)", "pathway_count": 13, "publication_count": 411, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10027417;10052934;10077652;10097139;10218588;10224290;10319874;10391242;10411933;10432380;10452964;10512690;10520737;10526164;10583407;10614670;10651831;10681634;10686426;10722588;10769148;10810289;10850798;10858438;10898936;10903326;10912521;10951195;10956649;10990447;11042151;11060341;11095479;11149950;11158056;11181758;11237011;11250653;11258893;11264294;11274389;11278841;11316783;11401442;11447277;11467836;11500512;11522292;11564734;11590439;11604492;11606061;11679632;11739083;11751371;11788658;11820786;11875109;118839;12032151;12150943;12241545;12379487;12454263;12454989;12466191;12488451;12518019;12595566;12612088;12692552;1270801;12761161;12763022;1279089;12807903;12810533;12847263;12864777;12904166;12950167;12966036;1339697;1361196;1370451;1383255;14506261;14559902;14567678;14609958;14703507;14732096;14754908;14764426;15023535;15064394;15126567;15147902;1530612;15308688;15358783;1542003;15469690;15485880;15525596;15534001;15583000;15642270;15962837;15994327;16061658;16094309;16174740;16200213;16237101;16326978;16525990;1674745;16799559;16882874;16912174;16926412;16939223;16968945;16984918;17018285;17047378;1713245;17154273;17179669;17186944;17237796;17249697;17312271;17332894;17425515;17525477;17644776;17709607;17985932;18065497;18070888;18077821;18087047;18295589;1837051;18449172;18460466;1848237;18484335;1849145;18507396;1852209;1856611;18653779;18782758;19011241;19014918;19047365;19073604;1911868;19139408;1917954;19227971;19481530;19531498;19567873;19596786;19658395;19824718;19828817;19838169;19911804;20030366;20068231;20166139;20303980;20360967;20466882;20466885;20494359;20511397;20566875;2063194;20676056;20807650;20810988;20849212;20855588;20888598;20956340;2101409;21081667;21106934;2118650;21187453;21310851;21507939;21782039;21851338;2195544;22028381;22065755;22131221;22481068;2251254;22541735;22570530;22673513;2280190;22905912;22949395;2313204;2318890;23197261;23230144;23234360;2341812;23496987;23519696;23584533;23620513;23676495;23790976;23813966;2409350;24106281;24267230;24275569;24308844;2476804;2479552;24829397;24833601;24893886;2498325;25122793;25173806;25523424;2556398;25645385;25813380;26018760;26091039;26387950;26417681;26668317;26686862;26802169;26807092;26984517;26992070;2738044;2760009;27600516;2762297;27726376;2793848;279930;28035807;28082258;28111074;2831187;2833496;28842423;28869506;2900981;29393594;29516132;29557506;29695434;29772548;29786170;2987927;30333625;3035556;30397120;30429286;30448281;30459171;3053705;3080684;3094007;31154438;3115992;3142462;31611695;31844290;31848261;32157095;32350084;32373127;32387766;3243553;32488085;32501643;32983136;33123756;33392160;33592498;33936100;34171305;34185709;34357683;3467373;35051231;35251023;35580925;36284347;3675579;3714052;37938771;39261765;39271694;39334114;39337715;3942763;3947350;4335615;4340992;4345202;4360812;5057882;5675424;5865378;6088540;6255257;6325438;6327682;6420172;6619141;6860692;6897404;6961410;7068630;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7607209;7635945;7683646;7683668;7689487;7768901;7833947;7891887;7972031;7994571;8017323;8033412;8071364;8097946;8114934;8125051;8127896;8159701;8287539;8300609;8340399;8346443;8367470;8384721;8429030;8464497;8468528;8488843;8490014;8626595;8664327;8728311;8751442;8756331;8781553;8784195;8817670;8870004;8894645;8939961;8964575;9006323;9054935;9176854;9210972;9225214;9360638;9395455;9465098;9468508;9488694;9497324;9511720;9548586;9709957;9733769;9786878;9829992;9862427;9888420;9920938;9922210;9925661", "class_list": "", "function": "(Microbial infection) Through its interaction with HCV envelope glycoprotein E2, participates in the attachment of HCV to HSPGs and other receptors (LDLr, VLDLr, and SR-B1) on the cell surface and to the assembly, maturation and infectivity of HCV viral particles (PubMed:25122793, PubMed:29695434). This interaction is probably promoted via the up-regulation of cellular autophagy by the virus (PubMed:29695434)., [UniProtKB, PubMed, PubMed]; APOE contributes to longitudinal impulse control disorders progression in Parkinson's disease. Publication Status: Online-Only, [RefSeq, PubMed]; APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids (PubMed:14754908, PubMed:1911868, PubMed:6860692). APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance (PubMed:14754908, PubMed:1911868, PubMed:1917954, PubMed:23620513, PubMed:2762297, PubMed:6860692, PubMed:9395455). Apolipoproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma (PubMed:2762297, PubMed:6860692, PubMed:9395455). As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL) (PubMed:1911868, PubMed:6860692). It also binds a wide range of cellular receptors including the LDL receptor/LDLR, the LDL receptor-related proteins LRP1, LRP2 and LRP8 and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles (PubMed:12950167, PubMed:1530612, PubMed:1917954, PubMed:20030366, PubMed:20303980, PubMed:2063194, PubMed:2762297, PubMed:7635945, PubMed:7768901, PubMed:8756331, PubMed:8939961). Finally, APOE also has a heparin-binding activity and binds heparan-sulfate proteoglycans on the surface of cells, a property that supports the capture and the receptor-mediated uptake of APOE-containing lipoproteins by cells (PubMed:23676495, PubMed:7635945, PubMed:9395455, PubMed:9488694). A main function of APOE is to mediate lipoprotein clearance through the uptake of chylomicrons, VLDLs, and HDLs by hepatocytes (PubMed:1911868, PubMed:1917954, PubMed:23676495, PubMed:29516132, PubMed:9395455). APOE is also involved in the biosynthesis by the liver of VLDLs as well as their uptake by peripheral tissues ensuring the delivery of triglycerides and energy storage in muscle, heart and adipose tissues (PubMed:2762297, PubMed:29516132). By participating in the lipoprotein-mediated distribution of lipids among tissues, APOE plays a critical role in plasma and tissues lipid homeostasis (PubMed:1917954, PubMed:2762297, PubMed:29516132). APOE is also involved in two steps of reverse cholesterol transport, the HDLs-mediated transport of cholesterol from peripheral tissues to the liver, and thereby plays an important role in cholesterol homeostasis (PubMed:14754908, PubMed:23620513, PubMed:9395455). First, it is functionally associated with ABCA1 in the biogenesis of HDLs in tissues (PubMed:14754908, PubMed:23620513). Second, it is enriched in circulating HDLs and mediates their uptake by hepatocytes (PubMed:9395455). APOE also plays an important role in lipid transport in the central nervous system, regulating neuron survival and sprouting (PubMed:25173806, PubMed:8939961). APOE is also involved in innate and adaptive immune responses, controlling for instance the survival of myeloid-derived suppressor cells (By similarity). Binds to the immune cell receptor LILRB4 (PubMed:30333625). APOE may also play a role in transcription regulation through a receptor-dependent and cholesterol-independent mechanism, that activates MAP3K12 and a non-canonical MAPK signal transduction pathway that results in enhanced AP-1-mediated transcription of APP (PubMed:28111074)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Apolipoprotein E E3/E4 genotype is associated with an increased risk of coronary atherosclerosis in patients with hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; Synergistic Effect between the APOE epsilon4 Allele with Genetic Variants of GSK3B and MAPT: Differential Profile between Refractory Epilepsy and Alzheimer Disease. Publication Status: Online-Only, [RefSeq, PubMed]; The biphasic impact of apolipoprotein E epsilon4 allele on age-related hearing loss. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 6, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 10, "reported_glycation": 1, "reported_snv": 14, "reported_interactions": 1, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 66, "glyco_site_count": 12, "binding_glycan_count": 1, "secondary_ac_list": "B2RC15;C0JYY5;Q9P2S4", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005319 lipid transporter activity;GO:0005543 phospholipid binding;GO:0008201 heparin binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0050709 negative regulation of protein secretion;GO:0001523 retinoid metabolic process;GO:0006641 triglyceride metabolic process;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007271 synaptic transmission, cholinergic", "synthesized_glycan_count": 0, "hit_score": 43.1, "record_id": "P02649-1", "record_type": "protein", "filter_code": "0000000.1111111.100000.000000000001000000.0100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30049-1", "uniprot_id": [ { "id": "ATPD_HUMAN", "url": "https://www.uniprot.org/uniprot/P30049", "type": "external" } ], "mass": 17490.0, "length": 168, "protein_name": "ATP synthase F(1) complex subunit delta, mitochondrial", "gene_name": "ATP5F1D", "organism": "Human", "refseq_name": "ATP synthase F(1) complex subunit delta, mitochondrial precursor", "refseq_ac": [ { "id": "NP_001001975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001975", "type": "external" } ], "gene_names_uniprotkb": "ATP5F1D; ATP5D", "gene_names_refseq": "ATP5D; ATP5F1D; MC5DN5", "protein_names_uniprotkb": "ATP synthase F(1) complex subunit delta, mitochondrial; ATP synthase F1 subunit delta; F-ATPase delta subunit", "protein_names_refseq": "ATP synthase F(1) complex subunit delta, mitochondrial precursor; ATP synthase F(1) complex subunit delta, mitochondrial; ATP synthase subunit delta, mitochondrial; ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit; F-ATPase delta subunit; mitochondrial ATP synthase complex delta-subunit precusor; mitochondrial ATP synthase, delta subunit", "tax_id": 9606, "disease": "colitis (Disease Ontology:DOID:0060180); mitochondrial complex V (ATP synthase) deficiency nuclear type 5 (Disease Ontology:DOID:0070463); Alzheimer's disease (Disease Ontology:DOID:10652); myocardial infarction (Disease Ontology:DOID:5844); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:513); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "11237011;1286669;1531933;17121862;17510655;17624330;18323778;20833715;21654843;21836051;22114354;22252321;22544926;22864911;23481700;24098383;24687277;24714562;24715725;25285856;25418920;25576301;25764979;25781180;25997101;26154972;26375851;26416881;26477565;26530328;26728094;26929215;26968360;26992070;27452731;27479602;27485409;27623147;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29478781;29499186;29508533;29557506;29632046;29786170;30192525;30315122;30410026;30524438;30573663;30779550;31530632;31611695;31844290;31937595;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33912179;33968037;33981976;34087483;34211107;34357683;34509645;35051231;35154160;35561310;35580925;35867754;36241641;36686378;37244256;38665916;4517936", "class_list": "", "function": "ATP5D Is a Potential Biomarker for Male Fertility. Publication Status: Online-Only, [RefSeq, PubMed]; RNA m(1)A methylation regulates glycolysis of cancer cells through modulating ATP5D., [RefSeq, PubMed]; Subunit delta, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable) (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). With the central stalk subunit gamma, is essential for the biogenesis of F(1) catalytic part of the ATP synthase complex namely in the formation of F1 assembly intermediate (PubMed:29499186)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W5Y3;Q6FG90", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0046933 proton-transporting ATP synthase activity, rotational mechanism", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0046688 response to copper ion;GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P30049-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NEK1-1", "uniprot_id": [ { "id": "ARRD5_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NEK1", "type": "external" } ], "mass": 36841.0, "length": 328, "protein_name": "Arrestin domain-containing protein 5", "gene_name": "ARRDC5", "organism": "Human", "refseq_name": "arrestin domain-containing protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001073992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073992", "type": "external" } ], "gene_names_uniprotkb": "ARRDC5", "gene_names_refseq": "ARRDC5", "protein_names_uniprotkb": "Arrestin domain-containing protein 5", "protein_names_refseq": "arrestin domain-containing protein 5 isoform 2; arrestin domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:645432)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30379171;37069147", "class_list": "", "function": "Plays an essential role in spermatogenesis. May be involved in the anchoring of the sperm head to the tail during spermatogenesis by affecting SEC22A-mediated SUN5 and NDC1 transport and localization., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A494BZV3", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NEK1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20648-1", "uniprot_id": [ { "id": "ATP4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P20648", "type": "external" } ], "mass": 114119.0, "length": 1035, "protein_name": "Potassium-transporting ATPase alpha chain 1", "gene_name": "ATP4A", "organism": "Human", "refseq_name": "potassium-transporting ATPase alpha chain 1", "refseq_ac": [ { "id": "NP_000695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000695", "type": "external" } ], "gene_names_uniprotkb": "ATP4A", "gene_names_refseq": "ATP4A; ATP6A", "protein_names_uniprotkb": "Potassium-transporting ATPase alpha chain 1; 7.2.2.19; Gastric H(+)/K(+) ATPase subunit alpha; Proton pump", "protein_names_refseq": "ATPase H+/K+ transporting alpha subunit; ATPase, H+/K+ exchanging, alpha polypeptide; ATPase, H+/K+ transporting, alpha polypeptide; epididymis secretory sperm binding protein; gastric H+/K+ ATPase alpha subunit; gastric H,K-ATPase catalytic subunit; gastric hydrogen-potassium ATPase; potassium-transporting ATPase alpha chain 1; proton pump", "tax_id": 9606, "disease": "familial hemiplegic migraine (Disease Ontology:DOID:0060178); Charcot-Marie-Tooth disease type 2DD (Disease Ontology:DOID:0111558); stomach cancer (Disease Ontology:DOID:10534); epilepsy (Disease Ontology:DOID:1826); nervous system disease (Disease Ontology:DOID:863)", "pathway": " (hsa:495); (R-HSA-936837)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19878721;2160952;2176086;22186024;23196729;24188822;24392018;24715725;25645385;27067231;27150581;27452731;27491072;28228285;28401620;28474257;28832583;28904123;29242379;29508533;29557506;29632711;29789417;3036582;31401365;31844290;32488085;33141586;35051231;36215666;6832622;7626145;8045293;8298639;8490646;8490659;8886014;9147644;9307043", "class_list": "", "function": "ATP4A antibodies were present in a significant proportion of children with type 1 diabetes (T1D). Higher ATP4A levels in T1D children are associated with lower, yet still fitting within the normal range, levels of vitamin B12, and ferritin., [RefSeq, PubMed]; Heterozygous mutations in the ATP4A and PTH1R genes were identified in a family with type I gastric neuroendocrine tumors plus hypothyroidism and rheumatoid arthritis, [RefSeq, PubMed]; In conclusion, patients homozygous for an inactivating ATP4A mutation develop gastric ECL-cell carcinoids in their 3rd or 4th decade., [RefSeq, PubMed]; The catalytic subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Uses ATP as an energy source to pump H(+) ions to the gastric lumen while transporting K(+) ion from the lumen into the cell (By similarity). Remarkably generates a million-fold proton gradient across the gastric parietal cell membrane, acidifying the gastric juice down to pH 1 (By similarity). Within a transport cycle, the transfer of a H(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing (E1) to outward-facing state (E2). The release of the H(+) ion in the stomach lumen is followed by binding of K(+) ion converting the pump conformation back to the E1 state (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The generation and characterization of a knockin mouse model for the ATP4a(R703C) mutation to better understand the tumorigenesis process., [RefSeq, PubMed]; The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes a catalytic alpha subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]., [RefSeq]; Type IV Gastric Carcinoids in the Stomach Caused by ATP4A Gene Mutations., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00738", "ec_number_list": [ { "id": "7.2.2.19", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.19", "type": "external" }, { "id": "7.2.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.13", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0030955 potassium ion binding;GO:0005391 P-type sodium:potassium-exchanging transporter activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0006883 intracellular sodium ion homeostasis;GO:0030007 intracellular potassium ion homeostasis;GO:0036376 sodium ion export across plasma membrane;GO:1990573 potassium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P20648-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00154-1", "uniprot_id": [ { "id": "BACH_HUMAN", "url": "https://www.uniprot.org/uniprot/O00154", "type": "external" } ], "mass": 41796.0, "length": 380, "protein_name": "Cytosolic acyl coenzyme A thioester hydrolase", "gene_name": "ACOT7", "organism": "Human", "refseq_name": "cytosolic acyl coenzyme A thioester hydrolase isoform hBACHa", "refseq_ac": [ { "id": "NP_009205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009205", "type": "external" } ], "gene_names_uniprotkb": "ACOT7; BACH", "gene_names_refseq": "ACH1; ACOT7; ACT; BACH; CTE-II; LACH1; LACH; hBACH", "protein_names_uniprotkb": "Cytosolic acyl coenzyme A thioester hydrolase; 3.1.2.2; Acyl-CoA thioesterase 7; BACH; Brain acyl-CoA hydrolase; CTE-IIa; CTE-II; Long chain acyl-CoA thioester hydrolase; hBACH", "protein_names_refseq": "CTE-IIa; acyl-CoA thioesterase 2; acyl-CoA thioesterase, long chain; brain acyl-CoA hydrolase; cytosolic acyl coenzyme A thioester hydrolase isoform hBACHa; cytosolic acyl coenzyme A thioester hydrolase; long chain acyl-CoA thioester hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:11332); (R-HSA-77289)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10578051;11237011;11696000;12435388;12882974;15592755;15638818;16423998;16934754;16940157;17762044;17953517;18268358;19170545;19608861;20068231;20338778;20470824;21237683;22424782;22465940;22544926;22586271;22871024;23301498;23481700;23700546;23901139;24080521;24732803;25002576;25418920;25576301;25645385;26154972;26290611;27600516;27920218;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29508533;29557506;29632046;29786170;30524438;30779550;31154438;31530632;31640082;31844290;31848261;31998317;32157095;32161166;32350084;32387766;32469171;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33912179;33968037;34019948;34211107;34229054;34357683;34405274;34509645;34561969;34725712;35051231;35138101;35215835;35318648;35561310;35580925;36010968;36240223;37217939;38502867;38665916;39894887;40596516;4721607;8241273", "class_list": "", "function": "Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication. Publication Status: Online-Only, [RefSeq, PubMed]; BACH was deranged in hippocampus of mesial temporal lobe epilepsy patients., [RefSeq, PubMed]; Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:10578051). Preferentially hydrolyzes palmitoyl-CoA, but has a broad specificity acting on other fatty acyl-CoAs with chain-lengths of C8-C18 (PubMed:10578051). May play an important physiological function in brain (PubMed:10578051)., [UniProtKB, PubMed]; NMRAL2P activation suppresses ACOT7 expression in gastric cancer., [RefSeq, PubMed]; Patients in high ACOT7 group had a significant lower EFS and OS, while patients in high versus low expression levels of other types of ACOT showed no significant difference on the outcome, [RefSeq, PubMed]; The human BACH gene can express long-chain acyl-CoA hydrolase activity in multiple intracellular compartments by generating BACH isoforms with differential localization signals to affect various cellular functions that involve acyl-CoAs, [RefSeq, PubMed]; This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; USP3 promotes cisplatin resistance in non-small cell lung cancer cells by suppressing ACOT7-regulated ferroptosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K0K7;A8K232;A8K6B8;A8K837;B3KQ12;O43703;Q53Y78;Q5JYL2;Q5JYL3;Q5JYL4;Q5JYL5;Q5JYL6;Q5TGR4;Q9UJM9;Q9Y539;Q9Y540", "ec_number_list": [ { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.5.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.6", "type": "external" }, { "id": "3.1.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.14", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0052689 carboxylic ester hydrolase activity;GO:0000062 fatty-acyl-CoA binding;GO:0036042 long-chain fatty acyl-CoA binding;GO:0052816 long-chain fatty acyl-CoA hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006637 acyl-CoA metabolic process;GO:0009062 fatty acid catabolic process;GO:0015937 coenzyme A biosynthetic process;GO:0036114 medium-chain fatty-acyl-CoA catabolic process;GO:0036116 long-chain fatty-acyl-CoA catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "O00154-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43505-1", "uniprot_id": [ { "id": "B4GA1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43505", "type": "external" } ], "mass": 47119.0, "length": 415, "protein_name": "Beta-1,4-glucuronyltransferase 1", "gene_name": "B4GAT1", "organism": "Human", "refseq_name": "beta-1,4-glucuronyltransferase 1", "refseq_ac": [ { "id": "NP_006867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006867", "type": "external" } ], "gene_names_uniprotkb": "B4GAT1; B3GNT1; B3GNT6", "gene_names_refseq": "B3GN-T1; B3GNT1; B3GNT6; B4GAT1; BETA3GNTI; MDDGA13; iGAT; iGNT", "protein_names_uniprotkb": "Beta-1,4-glucuronyltransferase 1; 2.4.1.-; I-beta-1,3-N-acetylglucosaminyltransferase; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase; Poly-N-acetyllactosamine extension enzyme; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1; iGnT", "protein_names_refseq": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6; beta-1,3-N-acetylglucosaminyltransferase bGnT-6; beta-1,4-glucuronyltransferase 1; i-beta-1,3-N-acetylglucosaminyltransferase; poly-N-acetyllactosamine extension enzyme", "tax_id": 9606, "disease": "Walker-Warburg syndrome (Disease Ontology:DOID:0050560); muscular dystrophy-dystroglycanopathy type B1 (Disease Ontology:DOID:0050588); congenital muscular dystrophy-dystroglycanopathy type A13 (Disease Ontology:DOID:0111238)", "pathway": " (hsa:11041); (R-HSA-2022854); (R-HSA-5083627); (R-HSA-9939291)", "pathway_count": 4, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;10206952;10491328;10504389;10545611;11030741;11042166;11042394;11283017;11588157;11592034;11709191;11741828;11821425;11901181;12218059;12966029;14627679;15121789;15486459;15560372;15620693;17021253;17030669;17034757;17044012;1714903;18195152;19067344;19261593;19299310;19587235;22223806;22522420;23090970;23125099;23217329;23359570;23390185;23877401;24190977;25279697;25279699;25502872;26375851;26687144;26923585;26992070;27130732;27493216;27600516;27733679;27909055;28228285;28832583;28834231;28904123;29242379;29314611;29477842;29557506;29741879;29786170;30429286;31154438;31844290;31848261;31949166;32149355;32157095;32350084;33592498;33936100;33968037;34015330;34171305;34357683;35154160;35251023;35561310;36010968;36215666;36241641;38034954;38665916;8333853;8611500;8920913;9405439;9405606;9417100;9597550", "class_list": "glycogene;glycosyltransferase", "function": "B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated alpha-dystroglycan. Publication Status: Online-Only, [RefSeq, PubMed]; Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1) (PubMed:19587235, PubMed:23359570, PubMed:25279697, PubMed:25279699). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PubMed:25279697, PubMed:25279699). Phosphorylated O-mannosyl glycan is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PubMed:25279697, PubMed:25279699). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Report describes the first truncating mutation in B3GNT1 and confirms that this gene, which plays a role in alphaDG glycosylation, is a bona fide disease gene in Walker-Warburg syndrome, [RefSeq, PubMed]; These functional studies identify an important role of B3GNT1 in the synthesis of the uncharacterized laminin-binding glycan of alpha-dystroglycan and implicate B3GNT1 as a novel causative gene for Walker-Warburg syndrome., [RefSeq, PubMed]; These results demonstrate that B3GNT1 and B4GALT1 physically associate in vitro and in cultured cells, providing insight into possible mechanisms for regulation of polyLacNAc production., [RefSeq, PubMed]; These results identify a previously undescribed role of carbohydrate-dependent cell-basement membrane interaction in tumor suppression and its control by beta3GnT1 and LARGE., [RefSeq, PubMed]; This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 470, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q4TTN0", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.-.-", "type": "external" }, { "id": "2.4.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.149", "type": "external" }, { "id": "2.4.1.146", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.146", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity;GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome", "go_biological_process": "GO:0018146 keratan sulfate proteoglycan biosynthetic process;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "O43505-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43825-1", "uniprot_id": [ { "id": "B3GT2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43825", "type": "external" } ], "mass": 49213.0, "length": 422, "protein_name": "Beta-1,3-galactosyltransferase 2", "gene_name": "B3GALT2", "organism": "Human", "refseq_name": "beta-1,3-galactosyltransferase 2", "refseq_ac": [ { "id": "NP_003774", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003774", "type": "external" } ], "gene_names_uniprotkb": "B3GALT2", "gene_names_refseq": "B3GALT2; BETA3GALT2; GLCT2; beta3Gal-T2", "protein_names_uniprotkb": "Beta-1,3-galactosyltransferase 2; 2.4.1.86; Beta-1,3-GalTase 2; Beta3Gal-T2; Beta3GalT2; UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2", "protein_names_refseq": "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2; UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2; beta-1,3-GalTase 2; beta-1,3-galactosyltransferase 2; beta-3-galt2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8707); (R-HSA-9037629)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10206952;10212226;11318611;12107078;12222957;12678917;14688233;15158662;1520296;1702034;17123352;1716630;1740457;1977660;24953560;29557506;29769354;35051231;7876235;8207002;8240337;8288606;8333853;9219535;9417100;9582303", "class_list": "glycogene;glycosyltransferase", "function": "Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues., [UniProtKB, PubMed, PubMed]; This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 428, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RAB1;Q9BZQ9", "ec_number_list": [ { "id": "2.4.1.86", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.86", "type": "external" }, { "id": "2.4.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.62", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0008499 N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0006682 galactosylceramide biosynthetic process;GO:0009312 oligosaccharide biosynthetic process;GO:0006678 glucosylceramide metabolic process", "synthesized_glycan_count": 790, "hit_score": 2.7, "record_id": "O43825-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60312-1", "uniprot_id": [ { "id": "AT10A_HUMAN", "url": "https://www.uniprot.org/uniprot/O60312", "type": "external" } ], "mass": 167688.0, "length": 1499, "protein_name": "Phospholipid-transporting ATPase VA", "gene_name": "ATP10A", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase VA", "refseq_ac": [ { "id": "NP_077816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077816", "type": "external" } ], "gene_names_uniprotkb": "ATP10A; ATP10C; ATPVA; ATPVC; KIAA0566", "gene_names_refseq": "ATP10A; ATP10C; ATPVA; ATPVC", "protein_names_uniprotkb": "Phospholipid-transporting ATPase VA; 7.6.2.1; ATPase class V type 10A; Aminophospholipid translocase VA; P4-ATPase flippase complex alpha subunit ATP10A", "protein_names_refseq": "ATPase type IV, phospholipid transporting (P-type); ATPase, Class V, type 10C; ATPase, class V, type 10A; P4-ATPase flippase complex alpha subunit ATP10A; aminophospholipid translocase VA; phospholipid-transporting ATPase VA; probable phospholipid-transporting ATPase VA", "tax_id": 9606, "disease": "progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221)", "pathway": " (hsa:57194); (R-HSA-936837)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;11326269;11353404;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19878721;2160952;21914794;22186024;23196729;24392018;24715725;25947375;26637798;27067231;28832583;29242379;29557506;29599178;30429286;30530492;31844290;32157095;32357974;32387766;32488085;32938616;33592498;33936100;33968037;34171305;34509645;35051231;35580925;36241641;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "ATP10A gene is imprinted, with preferential expression from the maternal allele in human brain., [RefSeq, PubMed]; Catalytic component of P4-ATPase flippase complex, which catalyzes the hydrolysis of ATP coupled to the transport of phosphatidylcholine (PC) from the outer to the inner leaflet of the plasma membrane (PubMed:25947375, PubMed:29599178, PubMed:30530492). Initiates inward plasma membrane bending and recruitment of Bin/amphiphysin/Rvs (BAR) domain-containing proteins involved in membrane tubulation and cell trafficking (PubMed:29599178). Facilitates ITGB1/beta1 integrin endocytosis, delaying cell adhesion and cell spreading on extracellular matrix (PubMed:25947375, PubMed:29599178). Has low flippase activity toward glucosylceramide (GlcCer) (PubMed:30530492)., [UniProtKB, PubMed, PubMed, PubMed]; Results suggest that enhanced PC flipping activity due to exogenous ATP10A expression alters the lipid composition at the plasma membrane, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. This gene is maternally expressed. It maps within the most common interval of deletion responsible for Angelman syndrome, also known as 'happy puppet syndrome'. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 70, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q4G0S9;Q969I4", "ec_number_list": [ { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0090554 phosphatidylcholine floppase activity;GO:0140326 ATPase-coupled intramembrane lipid transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:1990531 phospholipid-translocating ATPase complex", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0045332 phospholipid translocation;GO:0008360 regulation of cell shape;GO:1903527 positive regulation of membrane tubulation;GO:0015914 phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O60312-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60423-2", "uniprot_id": [ { "id": "AT8B3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60423", "type": "external" } ], "mass": 146752.0, "length": 1300, "protein_name": "Phospholipid-transporting ATPase IK", "gene_name": "ATP8B3", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase IK isoform 2", "refseq_ac": [ { "id": "NP_001171473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171473", "type": "external" } ], "gene_names_uniprotkb": "ATP8B3; ATP1K; FOS37502_2", "gene_names_refseq": "ATP8B3; ATPIK", "protein_names_uniprotkb": "Phospholipid-transporting ATPase IK; 7.6.2.1; ATPase class I type 8B member 3", "protein_names_refseq": "ATPase, aminophospholipid transporter, class I, type 8B, member 3; ATPase, class I, type 8B, member 3; aminophospholipid translocase ATP8B3; phospholipid-transporting ATPase IK isoform 2; phospholipid-transporting ATPase IK; potential phospholipid-transporting ATPase IK; probable phospholipid-transporting ATPase IK", "tax_id": 9606, "disease": "", "pathway": " (hsa:148229); (R-HSA-936837)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10401004;10484781;10615129;10767338;12880872;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19664994;19878721;20947505;2160952;22186024;23196729;24392018;24715725;25418920;26992070;27067231;27846572;28832583;29242379;29493099;29557506;29786170;31844290;33141586;35051231;35997042;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "Association of ATP8B3 gene polymorphisms with aspirin-exacerbated respiratory disease in asthmatics., [RefSeq, PubMed]; P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules. May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes. Involved in acrosome reactions and binding of spermatozoa to zona pellucida., [UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to the other. This gene encodes member 3 of phospholipid-transporting ATPase 8B; other members of this protein family are located on chromosomes 1, 15 and 18. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z485;Q8IVB8;Q8N4Y8;Q96M22", "ec_number_list": [ { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0090556 phosphatidylserine floppase activity;GO:0140326 ATPase-coupled intramembrane lipid transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0002080 acrosomal membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0045332 phospholipid translocation;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O60423-2", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75129-1", "uniprot_id": [ { "id": "ASTN2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75129", "type": "external" } ], "mass": 148243.0, "length": 1339, "protein_name": "Astrotactin-2", "gene_name": "ASTN2", "organism": "Human", "refseq_name": "astrotactin-2 isoform a precursor", "refseq_ac": [ { "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729", "type": "external" } ], "gene_names_uniprotkb": "ASTN2; KIAA0634", "gene_names_refseq": "ASTN2; bA67K19.1", "protein_names_uniprotkb": "Astrotactin-2", "protein_names_refseq": "astrotactin-2 isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:23245)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;16959974;18839057;18940311;20195266;20889312;21248752;24190977;24714562;25576301;25645385;27397612;27600516;27846572;28314751;28832583;28834231;28940097;29242379;29288388;29371260;29557506;29786170;29789417;30242134;30429286;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33388371;33476460;33537174;33592498;33691108;33717175;34087483;34171305;34185709;34412080;34440368;35051231;35561310;35580925;36241641;36284347;37938771", "class_list": "", "function": "ASTN2 localizes primarily to endocytic and autophagocytic vesicles in the cell soma and in subsets of dendritic spines, [RefSeq, PubMed]; Chimeric RNA ASTN2-PAPPAas aggravates tumor progression and metastasis in human esophageal cancer., [RefSeq, PubMed]; Clinical trial and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Effects of rs958804 and rs7858836 single-nucleotide polymorphisms of the ASTN2 gene on pain-related phenotypes in patients who underwent laparoscopic colectomy and mandibular sagittal split ramus osteotomy., [RefSeq, PubMed]; Genetic Variation in the ASTN2 Locus in Cardiovascular, Metabolic and Psychiatric Traits: Evidence for Pleiotropy Rather Than Shared Biology. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5-bisphosphate, inositol-3,4,5-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup (Ref.6)., [UniProtKB, UniProtKB, UniProtKB]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders., [RefSeq, PubMed]; This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A2A2T7;A2A2T9;Q52LQ2;Q5JVX8;Q5JVX9;Q5JVY1;Q5VXG8;Q5VZX6;Q8N6P8;Q8WV47;Q96FL4;Q9UHW6", "ec_number_list": [], "go_molecular_function": "GO:0043533 inositol 1,3,4,5 tetrakisphosphate binding;GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005938 cell cortex;GO:0016020 membrane;GO:0043204 perikaryon", "go_biological_process": "GO:0015031 protein transport;GO:0001764 neuron migration;GO:0007158 neuron cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O75129-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75947-1", "uniprot_id": [ { "id": "ATP5H_HUMAN", "url": "https://www.uniprot.org/uniprot/O75947", "type": "external" } ], "mass": 18491.0, "length": 161, "protein_name": "ATP synthase peripheral stalk subunit d, mitochondrial", "gene_name": "ATP5PD", "organism": "Human", "refseq_name": "ATP synthase peripheral stalk subunit d, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001003785", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003785", "type": "external" } ], "gene_names_uniprotkb": "ATP5PD; ATP5H; My032", "gene_names_refseq": "APT5H; ATP5H; ATP5PD; ATPQ", "protein_names_uniprotkb": "ATP synthase peripheral stalk subunit d, mitochondrial; ATP synthase peripheral stalk subunit d; ATPase subunit d", "protein_names_refseq": "ATP synthase D chain, mitochondrial; ATP synthase peripheral stalk subunit d, mitochondrial isoform b; ATP synthase peripheral stalk subunit d, mitochondrial; ATP synthase subunit d, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d; ATP synthase, H+ transporting, mitochondrial F1F0, subunit d; ATP synthase, H+ transporting, mitochondrial Fo complex subunit D; ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d; ATPase subunit d; My032 protein", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:10476); (R-HSA-163210); (R-HSA-8949613); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "11237011;11923310;12198491;14623864;15522782;15870080;16115876;17101804;17121862;17297443;17510655;17579211;17624330;18323778;19608861;19841671;20833715;21836051;22114354;22252321;22262461;22710082;22864911;23201127;23481700;23555621;23931759;24098383;24315374;24520911;24687277;25285856;25505266;25576301;25645385;25764979;25781180;25997101;26416881;26477565;26504172;26530328;26923599;26968360;27479602;27485409;27496948;27623147;27642048;27893789;28228285;28377575;28396416;28467828;28489076;28649982;28832583;29242379;29301859;29317506;29557506;29632711;29932645;30120231;30124467;30192525;30444036;31327635;31695197;31844290;32157095;32357974;32387766;32488085;32938616;33091337;33141586;33257573;33537174;33691108;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34704252;34943861;35051231;35083852;35870450;36010968;36215666;36241641;36284347;36629048;36640659;37217939;37244256;37938771;38665916;4517936;7623837", "class_list": "", "function": "ATP5H loss in the tumor is strongly linked to failure of therapy, disease progression, and poor survival in patients with cancer., [RefSeq, PubMed]; Meta-analysis of brain samples of individuals with schizophrenia detects down-regulation of multiple ATP synthase encoding genes in both females and males., [RefSeq, PubMed]; Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]., [RefSeq]; Subunit d, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (PubMed:37244256). Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5L6;Q9H3J4", "ec_number_list": [], "go_molecular_function": "GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O75947-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94812-1", "uniprot_id": [ { "id": "BAIP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O94812", "type": "external" } ], "mass": 131901.0, "length": 1187, "protein_name": "BAI1-associated protein 3", "gene_name": "BAIAP3", "organism": "Human", "refseq_name": "BAI1-associated protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001186025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186025", "type": "external" } ], "gene_names_uniprotkb": "BAIAP3; KIAA0734", "gene_names_refseq": "BAIAP3; BAP3", "protein_names_uniprotkb": "BAI1-associated protein 3; BAP3; Brain-specific angiogenesis inhibitor I-associated protein 3", "protein_names_refseq": "BAI-associated protein 3; BAI1-associated protein 3 isoform 2; brain-specific angiogenesis inhibitor I-associated protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8938)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;12498718;23698091;25576301;25645385;26992070;28626000;28834231;29557506;29632711;30418433;30429286;30779550;31154438;31844290;31848261;32157095;32938616;33561007;33936100;33968037;33981976;34087483;35051231;36241641;36284347;38253038;39894887;9790924", "class_list": "", "function": "BAIAP3 functions indirectly in dense-core vesicle exocytosis by affecting DCV maturation through its role in DCV protein recycling., [RefSeq, PubMed]; Baiap3 is gender specifically associated with anxiety and benzodiazepine use disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Functions in endosome to Golgi retrograde transport. In response to calcium influx, may interact with SNARE fusion receptors and membrane phospholipids to mediate endosome fusion with the trans-Golgi network. By promoting the recycling of secretory vesicle transmembrane proteins, it indirectly controls dense-core secretory vesicle biogenesis, maturation and their ability to mediate the constitutive and regulated secretion of neurotransmitters and hormones. May regulate behavior and food intake by controlling calcium-stimulated exocytosis of neurotransmitters including NPY and serotonin and hormones like insulin (PubMed:28626000). Proposed to play a role in hypothalamic neuronal firing by modulating gamma-aminobutyric acid (GABA)ergic inhibitory neurotransmission (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Integrated analysis of microRNA and mRNA expression profiling identifies BAIAP3 as a novel target of dysregulated hsa-miR-1972 in age-related white matter lesions. Erratum:[Aging (Albany NY). 2021 Jun 14;13(11):15688-15689. doi: 10.18632/aging.203217. PMID: 34127571], [RefSeq, PubMed]; This p53-target gene encodes a brain-specific angiogenesis inhibitor. The protein is a seven-span transmembrane protein and a member of the secretin receptor family. It interacts with the cytoplasmic region of brain-specific angiogenesis inhibitor 1. This protein also contains two C2 domains, which are often found in proteins involved in signal transduction or membrane trafficking. Its expression pattern and similarity to other proteins suggest that it may be involved in synaptic functions. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A2A2B2;B2RCD7;B4DGS5;B4DIK3;B4DRK9;B4DRP1;E7EUB9;H3BUH8;H3BVI3;H7C2Q1;O94839;Q2M226;Q658J2;Q76N05;Q96RZ3;Q9UJK1", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005509 calcium ion binding;GO:0019905 syntaxin binding;GO:0000149 SNARE binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0099503 secretory vesicle;GO:0098982 GABA-ergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0050795 regulation of behavior;GO:0042147 retrograde transport, endosome to Golgi;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "O94812-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95671-1", "uniprot_id": [ { "id": "ASML_HUMAN", "url": "https://www.uniprot.org/uniprot/O95671", "type": "external" } ], "mass": 68857.0, "length": 621, "protein_name": "Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein", "gene_name": "ASMTL", "organism": "Human", "refseq_name": "probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 2", "refseq_ac": [ { "id": "NP_001166944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166944", "type": "external" } ], "gene_names_uniprotkb": "ASMTL", "gene_names_refseq": "ASMTLX; ASMTLY; ASMTL; ASTML", "protein_names_uniprotkb": "Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein; Nucleoside triphosphate pyrophosphatase; Nucleotide PPase; Nucleotide pyrophosphatase", "protein_names_refseq": "N-acetylserotonin O-methyltransferase-like protein; acetylserotonin N-methyltransferase-like; probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein isoform 2; probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8623)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "17081983;18318008;18669648;18691976;19413330;19415658;19651622;19664994;19690332;20068231;20166139;21406692;23186163;23301498;24210219;24275569;24714562;25418920;25880248;25892735;26154972;26811146;26929215;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30484775;31217245;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33981976;34171305;34357683;34561969;34932366;35051231;35132862;35580925;36241641;36284347;9736779", "class_list": "", "function": "Nucleoside triphosphate pyrophosphatase that hydrolyzes dTTP and UTP. Can also hydrolyze CTP and the modified nucleotides pseudo-UTP, 5-methyl-UTP (m(5)UTP) and 5-methyl-CTP (m(5)CTP). Has weak activity with dCTP, 8-oxo-GTP and N(4)-methyl-dCTP (PubMed:24210219). May have a dual role in cell division arrest and in preventing the incorporation of modified nucleotides into cellular nucleic acids (PubMed:24210219). In addition, the presence of the putative catalytic domain of S-adenosyl-L-methionine binding in the C-terminal region argues for a methyltransferase activity (Probable)., [UniProtKB, PubMed]; The protein encoded by this gene has an N-terminus that is similar to the multicopy associated filamentation (maf) protein of Bacillus subtilis and to orfE of Escherichia coli, while the C-terminus is similar to N-acetylserotonin O-methyltransferase. This gene is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DX75;F5GXH4;J3JS33;Q5JQ53;Q8NBH5;Q96G02;Q9BUL6", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" }, { "id": "3.6.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.9", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0008171 O-methyltransferase activity;GO:0047429 nucleoside triphosphate diphosphatase activity;GO:0036221 UTP diphosphatase activity;GO:0036218 dTTP diphosphatase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0009117 nucleotide metabolic process;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "O95671-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00846-1", "uniprot_id": [ { "id": "ATP6_HUMAN", "url": "https://www.uniprot.org/uniprot/P00846", "type": "external" } ], "mass": 24817.0, "length": 226, "protein_name": "ATP synthase F(0) complex subunit a", "gene_name": "MT-ATP6", "organism": "Human", "refseq_name": "ATP synthase F0 subunit 6", "refseq_ac": [ { "id": "YP_003024031", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024031", "type": "external" } ], "gene_names_uniprotkb": "MT-ATP6; ATP6; ATPASE6; MTATP6", "gene_names_refseq": "ATP6; ATPase6; MTATP6", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit a; F-ATPase protein 6; Proton-conducting channel, ATP synthase F(0) complex subunit a", "protein_names_refseq": "ATP synthase F0 subunit 6", "tax_id": 9606, "disease": "left ventricular noncompaction (Disease Ontology:DOID:0060480); myopathy, lactic acidosis, and sideroblastic anemia 3 (Disease Ontology:DOID:0111184); NARP syndrome (Disease Ontology:DOID:0111273); mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 (Disease Ontology:DOID:0111748); adult-onset ataxia and polyneuropathy (Disease Ontology:DOID:0111750); infantile hypertrophic cardiomyopathy (Disease Ontology:DOID:0111753); Leber hereditary optic neuropathy and dystonia (Disease Ontology:DOID:0111755); prostate cancer (Disease Ontology:DOID:10283); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); Parkinson's disease (Disease Ontology:DOID:14330); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441); parathyroid carcinoma (Disease Ontology:DOID:1540); breast cancer (Disease Ontology:DOID:1612); thyroid cancer (Disease Ontology:DOID:1781); multiple sclerosis (Disease Ontology:DOID:2377); Leigh disease (Disease Ontology:DOID:3652); striatonigral degeneration (Disease Ontology:DOID:4751); schizophrenia (Disease Ontology:DOID:5419); kidney disease (Disease Ontology:DOID:557); mitochondrial metabolism disease (Disease Ontology:DOID:700); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); mitochondrial encephalomyopathy (Disease Ontology:DOID:890); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:4508); (R-HSA-163210); (R-HSA-5419276); (R-HSA-8949613); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 116, "publication_id_list": "11130070;11553319;11923310;12022039;12198491;12509511;12840039;12870132;12949126;14563219;14623864;14760490;15382008;15467980;15522782;15638829;15870080;16049925;16115876;17101804;17121862;17297443;17352390;17510655;1757091;17579211;17624330;17803939;18055910;18323778;18429816;18782833;19188198;19716793;19841671;20186120;20833715;2137962;21836051;22114354;22172991;22252321;22262461;22710082;22864911;23201127;23931759;24098383;24315374;24520911;24687277;25037980;25233460;25285856;25576301;25764979;25781180;25997101;26416881;26477565;26504172;26530328;26923599;26968360;26992070;27479602;27485409;27496948;27623147;27642048;28377575;28396416;28510447;29301859;29557506;29932645;30120231;30429286;30484775;31217245;31327635;31695197;3201231;32157095;32387766;32488085;32502341;32938616;33091337;33257573;33298915;33392160;33968037;34357683;34704252;34943861;35051231;35870450;36010968;36241641;36302763;36596788;36629048;37141370;37244256;4517936;7219534;7530363;7623837;7668837;7726182;8395787;9270604;9461455;9501263;9556461", "class_list": "", "function": "Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (Probable). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). With the subunit c (ATP5MC1), forms the proton-conducting channel in the F(0) domain, that contains two crucial half-channels (inlet and outlet) that facilitate proton movement from the mitochondrial intermembrane space (IMS) into the matrix (PubMed:37244256). Protons are taken up via the inlet half-channel and released through the outlet half-channel, following a Grotthuss mechanism (PubMed:37244256)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 23, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q34772;Q5S8W5;Q5S9E7;Q5S9I6;Q5SA31;Q6RPB7;Q6VHC0;Q6VHE0;Q6WQF4;Q7YCC1;Q7YCF8;Q7YCG1;Q85KU8;Q85KX1;Q85L05;Q8HNQ4;Q8HNQ8;Q8WCX6;Q9B2U5;Q9B2Z2", "ec_number_list": [], "go_molecular_function": "GO:0015252 proton channel activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0055093 response to hyperoxia;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P00846-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17735-1", "uniprot_id": [ { "id": "ATTY_HUMAN", "url": "https://www.uniprot.org/uniprot/P17735", "type": "external" } ], "mass": 50399.0, "length": 454, "protein_name": "Tyrosine aminotransferase", "gene_name": "TAT", "organism": "Human", "refseq_name": "tyrosine aminotransferase", "refseq_ac": [ { "id": "NP_000344", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000344", "type": "external" } ], "gene_names_uniprotkb": "TAT", "gene_names_refseq": "TAT", "protein_names_uniprotkb": "Tyrosine aminotransferase; 2.6.1.5; L-tyrosine:2-oxoglutarate aminotransferase; TAT", "protein_names_refseq": "L-tyrosine:2-oxoglutarate aminotransferase; testis tissue sperm-binding protein Li 34a; tyrosine aminotransferase, cytosolic; tyrosine aminotransferase", "tax_id": 9606, "disease": "tyrosinemia type II (Disease Ontology:DOID:0050725); tyrosinemia (Disease Ontology:DOID:9275)", "pathway": " (hsa:6898); (R-HSA-8963684)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10876237;10942115;11327815;1357662;16640556;17083724;1973834;20166139;21153519;24275569;27862975;29557506;29792216;31154438;31844290;34047349;35318648;35580925;36010968;36893872;37794595;37938771;38697462;5487549;7908801;7999802;8364576;8782815;8914829", "class_list": "", "function": "Most synonymous allelic variants in HIV tat are not silent., [RefSeq, PubMed]; TRIM21-mediated ubiquitylation of TAT suppresses liver metastasis in gallbladder cancer., [RefSeq, PubMed]; This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]., [RefSeq]; Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8I1;D3DWS2", "ec_number_list": [ { "id": "2.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.5", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0016597 amino acid binding;GO:0004838 L-tyrosine-2-oxoglutarate transaminase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006103 2-oxoglutarate metabolic process;GO:0006536 glutamate metabolic process;GO:0006979 response to oxidative stress;GO:0032869 cellular response to insulin stimulus;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P17735-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54793-1", "uniprot_id": [ { "id": "ARSF_HUMAN", "url": "https://www.uniprot.org/uniprot/P54793", "type": "external" } ], "mass": 65940.0, "length": 590, "protein_name": "Arylsulfatase F", "gene_name": "ARSF", "organism": "Human", "refseq_name": "arylsulfatase F precursor", "refseq_ac": [ { "id": "NP_001188467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188467", "type": "external" } ], "gene_names_uniprotkb": "ARSF", "gene_names_refseq": "ARSF; ASF", "protein_names_uniprotkb": "Arylsulfatase F; 3.1.6.1; ASF", "protein_names_refseq": "arylsulfatase F precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:416); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 110, "publication_id_list": "10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15962010;16229686;16230343;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19405096;19836391;2001789;20728381;235289;239890;2562955;2717620;28126847;29393594;29443946;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;3048308;3136930;31495489;3158659;33912179;3456607;37074911;39940;5135907;5164093;527942;5822067;7504405;7628016;7720070;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9192838;9217013;9338580;9520418;9521684;9699462", "class_list": "glycogene", "function": "Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate., [UniProtKB, PubMed]; This gene is a member of the sulfatase family, and more specifically, the arylsulfatase subfamily. Members of the subfamily share similarity in sequence and splice sites, and are clustered together on chromosome X, suggesting that they are derived from recent gene duplication events. Sulfatases are essential for the correct composition of bone and cartilage matrix. The activity of this protein, unlike that of arylsulfatase E, is not inhibited by warfarin. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 700, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8TCC5", "ec_number_list": [ { "id": "3.1.6.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.2", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P54793-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58397-1", "uniprot_id": [ { "id": "ATS12_HUMAN", "url": "https://www.uniprot.org/uniprot/P58397", "type": "external" } ], "mass": 177676.0, "length": 1594, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 12", "gene_name": "ADAMTS12", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001311440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311440", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS12; PRO4389", "gene_names_refseq": "ADAMTS12; PRO4389", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 12; 3.4.24.-; ADAM-TS 12; ADAM-TS12; ADAMTS-12", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 12 isoform 2 precursor; ADAM-TS 12; ADAM-TS12; ADAMTS-12; a disintegrin and metalloproteinase with thrombospondin motifs 12; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061)", "pathway": " (hsa:81792); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;11067851;11237011;11279086;12975309;16464858;16611630;17081983;17895370;18452278;18485748;18720094;19796186;22588082;23090970;23889335;24190977;24715725;25544610;25576301;26992070;28228285;29741879;29769354;29786170;30410026;30459171;32350084;32357974;32938616;32983136;33912179;35051231;35154160;35508435;36581221;37074911;37092087;37619822;37819632;39286973", "class_list": "", "function": "ADAMTS-12 is a new COMP-interacting and -degrading enzyme and thus may play an important role in the COMP degradation in the initiation and progression of arthritis, [RefSeq, PubMed]; ADAMTS12 is a stromal modulator in chronic liver disease., [RefSeq, PubMed]; ADAMTS12 promotes fibrosis by restructuring extracellular matrix to enable activation of injury-responsive fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; ADAMTS12 promotes migration and epithelial-mesenchymal transition and predicts poor prognosis for pancreatic cancer., [RefSeq, PubMed]; ADAMTS12 promotes oxaliplatin chemoresistance and angiogenesis in gastric cancer through VEGF upregulation., [RefSeq, PubMed]; Data suggest that ADAMTS12 confers tumour-protective functions upon cells that produce this proteolytic enzyme, [RefSeq, PubMed]; Metalloprotease that may play a role in the degradation of COMP. Also cleaves alpha-2 macroglobulin and aggregan. Has anti-tumorigenic properties., [UniProtKB, PubMed, PubMed, PubMed]; MicroRNA-186 suppresses cell proliferation and metastasis in bladder cancer., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 13, "predicted_n_glycosites": 11, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 102, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 17, "disease_count": 1, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A2RRN9;A5D6V6;Q6UWL3", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "GO:0043931 ossification involved in bone maturation;GO:0006508 proteolysis;GO:0016477 cell migration;GO:0030198 extracellular matrix organization;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P58397-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59510-1", "uniprot_id": [ { "id": "ATS20_HUMAN", "url": "https://www.uniprot.org/uniprot/P59510", "type": "external" } ], "mass": 214721.0, "length": 1910, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 20", "gene_name": "ADAMTS20", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 20 preproprotein", "refseq_ac": [ { "id": "NP_079279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079279", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS20", "gene_names_refseq": "ADAM-TS20; ADAMTS-20; ADAMTS20; GON-1", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 20; 3.4.24.-; ADAM-TS 20; ADAM-TS20; ADAMTS-20", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 20 preproprotein; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:80070); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10.1101/2023.09.13.557529;11067851;11237011;12514189;12562771;16464858;18720094;19796186;20221248;22588082;23889335;25544610;25798845;25892735;28832583;29242379;29557506;30814516;32350084;35051231;35251023;35494241;37169079;38253038", "class_list": "", "function": "ADAMTS-9 and ADAMTS-20 have an identical modular structure, are distinct in possessing 15 thrombospondin type I repeats and a unique C-terminal domain, and have a similar gene structure, [RefSeq, PubMed]; CRISPR-Cas9 inactivation of ADAMTS9 impaired ciliogenesis in RPE-1 cells, which was restored by catalytically active ADAMTS9 or ADAMTS20 acting in trans, but not by their proteolytically inactive mutants. Publication Status: Online-Only, [RefSeq, PubMed]; Degradomic Identification of Membrane Type 1-Matrix Metalloproteinase as an ADAMTS9 and ADAMTS20 Substrate., [RefSeq, PubMed]; In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in tissue-remodeling process occurring in both normal and pathological conditions. May have a protease-independent function in the transport from the endoplasmic reticulum to the Golgi apparatus of secretory cargos, mediated by the GON domain., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011]., [RefSeq]; This protein is identified and characterized and its relation to other disintegrins and thrombospondin 1 repeats is examined. Erratum:[J Biol Chem. 2018 Jul 27;293(30):11785. doi: 10.1074/jbc.AAC118.004702. PMID: 30054291], [RefSeq, PubMed]", "predicted_glycosites": 13, "predicted_n_glycosites": 13, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A6NNC9;J3QT00", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "P59510-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07817-1", "uniprot_id": [ { "id": "B2CL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07817", "type": "external" } ], "mass": 26049.0, "length": 233, "protein_name": "Bcl-2-like protein 1", "gene_name": "BCL2L1", "organism": "Human", "refseq_name": "bcl-2-like protein 1 isoform Bcl-X(S)", "refseq_ac": [ { "id": "NP_001182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182", "type": "external" } ], "gene_names_uniprotkb": "BCL2L1; BCL2L; BCLX", "gene_names_refseq": "BCL-XL/S; BCL2L1; BCL2L; BCLX; Bcl-X; PPP1R52", "protein_names_uniprotkb": "Bcl-2-like protein 1; Apoptosis regulator Bcl-X; Bcl2-L-1", "protein_names_refseq": "apoptosis regulator Bcl-X; bcl-2-like protein 1 isoform Bcl-X(S); bcl-2-like protein 1; protein phosphatase 1, regulatory subunit 52", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); prostate carcinoma (Disease Ontology:DOID:10286); lymphoid leukemia (Disease Ontology:DOID:1037); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); gastric ulcer (Disease Ontology:DOID:10808); urinary bladder cancer (Disease Ontology:DOID:11054); leiomyoma (Disease Ontology:DOID:127); dilated cardiomyopathy (Disease Ontology:DOID:12930); endometrial cancer (Disease Ontology:DOID:1380); uterus interstitial leiomyoma (Disease Ontology:DOID:13955); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); impotence (Disease Ontology:DOID:1875); melanoma (Disease Ontology:DOID:1909); nephroblastoma (Disease Ontology:DOID:2154); brain ischemia (Disease Ontology:DOID:2316); transitional cell carcinoma (Disease Ontology:DOID:2671); endometriosis (Disease Ontology:DOID:289); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); breast carcinoma (Disease Ontology:DOID:3459); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); hematopoietic system disease (Disease Ontology:DOID:74); chronic myeloid leukemia (Disease Ontology:DOID:8552); polycythemia vera (Disease Ontology:DOID:8997); acute myeloid leukemia (Disease Ontology:DOID:9119); ocular hypertension (Disease Ontology:DOID:9282); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:598); (R-HSA-111453); (R-HSA-6785807); (R-HSA-844455); (R-HSA-9648002); (R-HSA-9692913); (R-HSA-9702518); (R-HSA-9818030)", "pathway_count": 8, "publication_count": 305, "publication_id_list": "10023775;10085068;10085069;10195903;10198631;10219247;10369418;10510379;10586089;10617621;10667208;10698507;10772918;10807576;10867011;11038283;11058569;11084045;11090077;11104795;11120601;11120780;11196150;11206074;11237011;11278437;11278729;11356008;11404481;11463377;11463391;11463392;11546872;11585916;11714801;11739732;11960372;12011449;12223527;12242343;12433685;12468433;12600988;12624108;12633850;12727204;12750467;12796379;12832402;14534311;14561760;14634100;14660603;14712222;14966563;15003515;15116091;15261459;15451670;15498859;15584925;15659645;15805299;15869882;15902208;15950906;16000296;16007214;16043511;16048438;16048439;16107692;16205632;16236134;16368107;16397018;16451196;16483930;16509771;16510571;16540365;16606674;16627759;16684964;17046835;17256834;17337444;17349957;17356133;17369848;17418785;17427945;17428862;17458857;17572495;18182391;18243101;18309326;18353781;18447642;18451170;18502828;18591385;18644974;18974096;19124156;19185846;19188362;19397496;19917720;20111072;20416930;20418879;20493732;20622895;20628156;20802526;21102457;21170358;21252155;21336504;21567405;21639858;21661760;21683075;21689689;21730069;21779505;21840391;21905185;21905186;21937440;21994466;22002721;22046235;22144181;22179043;22195972;22205702;22275372;22383755;22411868;22498477;22589270;22617334;22693070;22721555;22851691;23051936;23055042;23086340;23103841;23124025;23172665;23275004;23291630;23340338;23455323;23481700;23514631;23555662;23698361;23735052;23792689;23943869;23967200;24013390;24033119;24091677;24097101;24346116;24366607;24463449;24486574;24621501;24725411;24743777;24813943;24921206;24971579;25156145;25234944;25296756;25550383;25576301;25713064;25759176;25781681;26022120;26085527;26154972;26188358;26515730;26590425;2661017;26701913;26706195;26716518;26771141;2682646;27013495;27094677;27226901;27239332;27256702;27396271;27398719;27410739;27588483;27697864;27791178;28038464;28167504;28228285;28467828;28481930;28486788;28630138;28666118;28778966;28832583;28834231;28845524;28904123;29311131;29393594;29424242;29493099;29507230;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30429286;30524438;30552988;30779550;30833945;31066629;31154438;31530632;31844290;31848261;31942016;31998317;32157095;32265295;32387766;32488085;32502341;32877642;32938616;32983136;33717175;33912179;33916908;33936100;33968037;33981976;34171305;35051231;35154160;35580925;35874702;36284347;36581221;38316463;38325773;38383492;38483541;7510216;7512451;7529288;7644501;7795521;7796300;7834748;7898939;7907877;8085155;8358789;8596636;8602263;8621622;8663118;8668165;8692274;8797861;8816495;9013879;9020082;9435230;9436858;9651359;9675101;9723655;9736340;9810004;9822558;9822675;9851253;9874564", "class_list": "", "function": "Genome-wide CRISPR screen reveals the synthetic lethality between BCL2L1 inhibition and radiotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Isoform Bcl-X(S) promotes apoptosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Modification of BCLX pre-mRNA splicing has antitumor efficacy alone or in combination with radiotherapy in human glioblastoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; OGDH and Bcl-xL loss causes synthetic lethality in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; PTEN hinders the formation of scars by regulating the levels of proteins in the extracellular matrix and promoting the apoptosis of dermal fibroblasts through Bcl-xL., [RefSeq, PubMed]; Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "diagnostic", "glycan_count": 0, "disease_count": 37, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P5L6;Q5CZ89;Q5TE65;Q92976", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0015267 channel activity;GO:0051434 BH3 domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006897 endocytosis;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0051607 defense response to virus;GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage", "synthesized_glycan_count": 0, "hit_score": 30.6, "record_id": "Q07817-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13145-1", "uniprot_id": [ { "id": "BAMBI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13145", "type": "external" } ], "mass": 29108.0, "length": 260, "protein_name": "BMP and activin membrane-bound inhibitor homolog", "gene_name": "BAMBI", "organism": "Human", "refseq_name": "BMP and activin membrane-bound inhibitor homolog precursor", "refseq_ac": [ { "id": "NP_036474", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036474", "type": "external" } ], "gene_names_uniprotkb": "BAMBI; NMA", "gene_names_refseq": "BAMBI; NMA", "protein_names_uniprotkb": "BMP and activin membrane-bound inhibitor homolog; Non-metastatic gene A protein; Putative transmembrane protein NMA", "protein_names_refseq": "BMP and activin membrane-bound inhibitor homolog precursor; BMP and activin membrane-bound inhibitor homolog; non-metastatic gene A protein; putative transmembrane protein NMA", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); prostatitis (Disease Ontology:DOID:14654); aortic valve stenosis (Disease Ontology:DOID:1712); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lung non-small cell carcinoma (Disease Ontology:DOID:3908); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:25805); (R-HSA-2173788)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10519551;10757800;11158580;11163210;11278251;12151385;12519765;14660579;14701756;14718519;15340161;15496141;15781469;16027725;16061177;19758997;20061380;20129061;20937913;22045334;22344298;23584533;25813380;29393594;32157095;32488085;32938616;34357683;36999621;37596430;37626905;38099498;38238750;8621228;9215638;9335507;9856985", "class_list": "", "function": "Beta-catenin interferes with transforming growth factor-beta-mediated growth arrest by inducing the expression of BAMBI, [RefSeq, PubMed]; Circular RNA circSP5 promotes liver metastasis of colorectal cancer via SP5-mediated BAMBI transcription. Publication Status: Online-Only, [RefSeq, PubMed]; Epitranscriptional regulation of TGF-beta pseudoreceptor BAMBI by m6A/YTHDF2 drives extrinsic radioresistance. Publication Status: Online-Only, [RefSeq, PubMed]; Increased Levels of BAMBI Inhibit Canonical TGF-beta Signaling in Chronic Wound Tissues. Publication Status: Online-Only, [RefSeq, PubMed]; Negatively regulates TGF-beta signaling., [UniProtKB]; The association of RBX1 and BAMBI gene expression with oocyte maturation in PCOS women. Publication Status: Online-Only, [RefSeq, PubMed]; The regulatory effect of the YY1/miR-HCC2/BAMBI axis on the stemness of liver cancer cells., [RefSeq, PubMed]; This gene encodes a transmembrane glycoprotein related to the type I receptors of the transforming growth factor-beta (TGF-beta) family, whose members play important roles in signal transduction in many developmental and pathological processes. The encoded protein however is a pseudoreceptor, lacking an intracellular serine/threonine kinase domain required for signaling. Similar proteins in frog, mouse and zebrafish function as negative regulators of TGF-beta, which has led to the suggestion that the encoded protein may function to limit the signaling range of the TGF-beta family during early embryogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005114 type II transforming growth factor beta receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0016477 cell migration;GO:0007179 transforming growth factor beta receptor signaling pathway;GO:0045893 positive regulation of DNA-templated transcription;GO:0030514 negative regulation of BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q13145-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43521-1", "uniprot_id": [ { "id": "B2L11_HUMAN", "url": "https://www.uniprot.org/uniprot/O43521", "type": "external" } ], "mass": 22171.0, "length": 198, "protein_name": "Bcl-2-like protein 11", "gene_name": "BCL2L11", "organism": "Human", "refseq_name": "bcl-2-like protein 11 isoform 11", "refseq_ac": [ { "id": "NP_001191035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191035", "type": "external" } ], "gene_names_uniprotkb": "BCL2L11; BIM", "gene_names_refseq": "BAM; BCL2L11; BIM; BOD", "protein_names_uniprotkb": "Bcl-2-like protein 11; Bcl2-L-11; Bcl2-interacting mediator of cell death", "protein_names_refseq": "BCL2-like 11 (apoptosis facilitator); bcl-2 interacting mediator of cell death; bcl-2 interacting protein Bim; bcl-2-like protein 11 isoform 11; bcl-2-related ovarian death agonist", "tax_id": 9606, "disease": "", "pathway": " (hsa:10018); (R-HSA-111446); (R-HSA-111453); (R-HSA-193648); (R-HSA-6802952); (R-HSA-8862803); (R-HSA-8952158); (R-HSA-9607240); (R-HSA-9614657)", "pathway_count": 9, "publication_count": 133, "publication_id_list": "10102273;10195903;10198631;10323868;10604467;10639123;10783894;10807576;10830966;11027663;11094066;11237011;11463392;11546872;11734221;11756498;11777915;11853546;11997495;12019181;12097334;12591950;12624108;12637528;12818176;14555991;14576824;14673001;14681225;14701673;14981546;15147734;15470142;15486195;15509806;15590058;15630448;15661735;16266983;16282323;16373335;16509771;16684964;16738314;16818494;16943287;17254966;17256834;17289999;17389404;17503221;18063582;18158893;18174237;18309326;18391968;18451170;18498746;18591385;18691386;18691976;18715233;18787071;18812174;18974108;19064725;19438505;19477218;19805105;20526349;20978166;21247487;21389326;21424530;21478148;21827948;22071694;22412893;22426421;22498477;22742832;22745804;22761832;22899714;23168613;23186163;23235460;23246379;23291630;23563182;23583981;23707940;24135138;24345920;24346116;25187648;25204415;25526094;25907612;26245900;26447615;26715362;26716515;26895103;27013495;27561725;27661108;28522571;28576946;28851395;28863346;29242379;29309929;29533771;29964125;31066629;32265295;32938616;32983136;33592498;34405274;38237562;38267588;38588830;39095579;7698360;7834748;8145851;8479541;9228946;9430630;9520479;9918857", "class_list": "", "function": "Co-inhibition of BET and NAE enhances BIM-dependent apoptosis with augmented cancer therapeutic efficacy., [RefSeq, PubMed]; Coexpression of TP53, BIM, and PTEN Enhances the Therapeutic Efficacy of Non-Small-Cell Lung Cancer., [RefSeq, PubMed]; Induces apoptosis and anoikis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possibly through a caspase-mediated pathway. Isoform BimAC and isoform BimABC lack the ability to induce apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Pokemon inhibits Bim transcription to promote the proliferation, anti-anoikis, invasion, histological grade, and dukes stage of colorectal neoplasms. Publication Status: Online-Only, [RefSeq, PubMed]; Protein interaction networks characterizing the A549 cells Klotho transfected are associated with activated pro-apoptotic Bim and suppressed Wnt/beta-catenin signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The heterogeneity of tyrosine kinase inhibitors responses across individuals and suggest the possibility of personalizing therapy with BH3 mimetics to overcome BIM-polymorphism-associated tyrosine kinase inhibitors resistance. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 24, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K2W2;O43522;Q0MSE7;Q0MSE8;Q0MSE9;Q53R28;Q6JTU6;Q6T851;Q6TE14;Q6TE15;Q6TE16;Q6V402;Q8WYL6;Q8WYL7;Q8WYL8;Q8WYL9;Q8WYM0;Q8WYM1", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0012505 endomembrane system;GO:0097136 Bcl-2 family protein complex", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0031334 positive regulation of protein-containing complex assembly;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage;GO:1903896 positive regulation of IRE1-mediated unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "O43521-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00330-1", "uniprot_id": [ { "id": "ODPX_HUMAN", "url": "https://www.uniprot.org/uniprot/O00330", "type": "external" } ], "mass": 54122.0, "length": 501, "protein_name": "Pyruvate dehydrogenase protein X component, mitochondrial", "gene_name": "PDHX", "organism": "Human", "refseq_name": "pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor", "refseq_ac": [ { "id": "NP_001159630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159630", "type": "external" } ], "gene_names_uniprotkb": "PDHX; PDX1", "gene_names_refseq": "DLDBP; E3BP; OPDX; PDHXD; PDHX; PDX1; proX", "protein_names_uniprotkb": "Pyruvate dehydrogenase protein X component, mitochondrial; Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex; E3-binding protein; E3BP; Lipoyl-containing pyruvate dehydrogenase complex component X; proX", "protein_names_refseq": "dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex; lipoyl-containing pyruvate dehydrogenase complex component X; pyruvate dehydrogenase complex, E3-binding protein subunit; pyruvate dehydrogenase complex, lipoyl-containing component X; pyruvate dehydrogenase protein X component, mitochondrial isoform 3 precursor; pyruvate dehydrogenase protein X component, mitochondrial", "tax_id": 9606, "disease": "sarcoma (Disease Ontology:DOID:1115); pyruvate decarboxylase deficiency (Disease Ontology:DOID:3649)", "pathway": " (hsa:8050); (R-HSA-204174); (R-HSA-5362517); (R-HSA-9861559)", "pathway_count": 4, "publication_count": 76, "publication_id_list": "10493790;11050037;11237011;11327815;11485553;11486000;11909957;12651851;12806624;14638692;15855260;15866176;15946682;16049940;16263718;16442803;17532339;17544412;18491316;18542081;19144697;19608861;19833728;19850744;20042001;20160912;20215566;20361979;20385101;20884751;21504868;21998312;22871568;23481700;23991366;24275569;24715725;25525879;26992070;27452731;28063628;29393594;29557506;29632046;29786170;29789417;30315122;30410026;31373491;3174635;31844290;32350084;32387766;32897882;32938616;33141586;33298915;33592498;33964039;33968037;35318648;35494241;36889194;38665916;7499431;7704533;8798399;9045657;9242632;9395502;9399911;9405293;9467010;9651365;9710704;9815194", "class_list": "", "function": "Cuproptosis-related gene PDHX and heat stress-related HSPD1 as potential key drivers associated with cell stemness, aberrant metabolism and immunosuppression in esophageal carcinoma., [RefSeq, PubMed]; Identification of PDHX as a metabolic target for esophageal squamous cell carcinoma., [RefSeq, PubMed]; Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex., [UniProtKB]; The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DW62;D3DR11;E9PB14;E9PBP7;O60221;Q96FV8;Q99783", "ec_number_list": [], "go_molecular_function": "GO:0004742 dihydrolipoyllysine-residue acetyltransferase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0045254 pyruvate dehydrogenase complex", "go_biological_process": "GO:0006086 pyruvate decarboxylation to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "O00330-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LR5-1", "uniprot_id": [ { "id": "UB2E2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LR5", "type": "external" } ], "mass": 22255.0, "length": 201, "protein_name": "Ubiquitin-conjugating enzyme E2 E2", "gene_name": "UBE2E2", "organism": "Human", "refseq_name": "ubiquitin-conjugating enzyme E2 E2 isoform 1", "refseq_ac": [ { "id": "NP_689866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689866", "type": "external" } ], "gene_names_uniprotkb": "UBE2E2; UBCH8", "gene_names_refseq": "UBCH8; UBE2E2", "protein_names_uniprotkb": "Ubiquitin-conjugating enzyme E2 E2; 2.3.2.23; E2 ubiquitin-conjugating enzyme E2; UbcH8; Ubiquitin carrier protein E2; Ubiquitin-protein ligase E2", "protein_names_refseq": "E2 ubiquitin-conjugating enzyme E2; ubiquitin carrier protein E2; ubiquitin conjugating enzyme E2E 2; ubiquitin-conjugating enzyme E2 E2 isoform 1; ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast); ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5); ubiquitin-protein ligase E2", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:7325); (R-HSA-983168)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;19028597;19352404;19413330;19452197;19489725;19851334;19874575;19940261;20061386;20133869;21406692;22496338;2261476;23783831;24275569;27237050;27543614;28218747;28228285;28514659;28832583;28834231;29242379;29331515;29393594;29485866;29493099;29508533;29557506;29632711;29769354;29786170;30315122;31844290;32350084;32502341;32897882;32938616;33141586;34087483;34932366;35580925;36010968;36765041;9371400;9380723;9668046", "class_list": "", "function": "Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-11'- and 'Lys-48'-, as well as 'Lys-63'-linked polyubiquitination. Catalyzes the ISGylation of influenza A virus NS1 protein., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; UBE2E2 enhances Snail-mediated epithelial-mesenchymal transition and Nrf2-mediated antioxidant activity in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "6.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.45", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "6.2.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.64", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004842 ubiquitin-protein transferase activity;GO:0042296 ISG15 transferase activity;GO:0061631 ubiquitin conjugating enzyme activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006974 DNA damage response;GO:0070979 protein K11-linked ubiquitination;GO:1900087 positive regulation of G1/S transition of mitotic cell cycle;GO:0070936 protein K48-linked ubiquitination;GO:0070534 protein K63-linked ubiquitination", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q96LR5-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2V7-1", "uniprot_id": [ { "id": "COG6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2V7", "type": "external" } ], "mass": 73279.0, "length": 657, "protein_name": "Conserved oligomeric Golgi complex subunit 6", "gene_name": "COG6", "organism": "Human", "refseq_name": "conserved oligomeric Golgi complex subunit 6 isoform 2", "refseq_ac": [ { "id": "NP_001138551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138551", "type": "external" } ], "gene_names_uniprotkb": "COG6; KIAA1134", "gene_names_refseq": "CDG2L; COD2; COG6; SHNS", "protein_names_uniprotkb": "Conserved oligomeric Golgi complex subunit 6; COG complex subunit 6; Component of oligomeric Golgi complex 6", "protein_names_refseq": "COG complex subunit 6; complexed with Dor1p 2; conserved oligomeric Golgi complex protein 6; conserved oligomeric Golgi complex subunit 6 isoform 2; testicular tissue protein Li 41", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIl (Disease Ontology:DOID:0070264); hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome (MONDO:MONDO:0014131)", "pathway": " (hsa:57511); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-6811440)", "pathway_count": 4, "publication_count": 254, "publication_id_list": "10052452;10189370;10209123;10318838;10445031;10559959;10637310;10652308;10652516;10679020;10761932;10865125;10903204;10921873;10990452;11035033;11172815;11237011;11285137;11303027;11306556;11346801;11359012;11461920;11689439;11689559;11703931;11718716;11726511;11748249;11827983;11839770;11980916;12011112;12047556;12070132;12377769;12383348;12388752;12429822;12620188;12620189;12634853;14580338;14654841;14718928;14742712;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15504911;15616190;15632110;15654769;15718469;15728195;15758030;15813748;15870108;15878329;15878873;16030262;16042553;16129887;1631136;16571679;16633337;16723730;1680566;16885419;16912714;16926190;16936697;16940185;17253781;17274799;17360540;17429068;17451557;17488291;17562788;17684057;17698061;17760859;17927562;17956946;18086915;18182008;18195106;18243103;18256213;18283113;18367545;18451304;18524849;18664496;18809720;18946081;1898986;19015319;19109418;19164740;19296914;19490898;19536132;1957170;19620288;19631211;19715559;19758564;20163571;20357002;20427317;20605848;20637885;20685960;20874812;21183348;21219331;21421921;21436057;21689688;21807881;21844168;22013193;22094269;22188167;22304919;22335553;22354037;22581368;22717455;23091056;23239882;23378023;23430903;23437303;23462996;23481700;23606727;23839779;23936529;23940353;24119662;24667118;24667119;24714562;24794632;24806965;24958902;25343031;25418920;25436559;25492864;25576301;25708460;25880248;26154972;26260076;26992070;27920218;28218747;28514659;28832583;28834231;28904123;29242379;29493099;29557506;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30833945;31020640;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32683677;32897882;32938616;32983136;33298915;33394555;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34509645;34561969;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;38253038;7691276;7909812;8001155;8128252;8132710;8221884;8253837;8440258;8505331;8620540;8636227;8670882;8945478;8991093;9050864;9114004;9150144;9177194;9230071;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9590177;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "glycogene", "function": "COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development., [RefSeq, PubMed]; Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG., [RefSeq, PubMed]; Required for normal Golgi function., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 861, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5T0U1;Q6AI19;Q86V49;Q9ULT5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0032588 trans-Golgi network membrane;GO:0017119 Golgi transport complex", "go_biological_process": "GO:0015031 protein transport;GO:0007030 Golgi organization;GO:0000301 retrograde transport, vesicle recycling within Golgi;GO:0006891 intra-Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "Q9Y2V7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q58EX7-1", "uniprot_id": [ { "id": "PKHG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q58EX7", "type": "external" } ], "mass": 130803.0, "length": 1191, "protein_name": "Puratrophin-1", "gene_name": "PLEKHG4", "organism": "Human", "refseq_name": "puratrophin-1 isoform 1", "refseq_ac": [ { "id": "NP_001123199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123199", "type": "external" } ], "gene_names_uniprotkb": "PLEKHG4; PRTPHN1", "gene_names_refseq": "ARHGEF44; PLEKHG4; PRTPHN1; SCA4", "protein_names_uniprotkb": "Puratrophin-1; PH domain-containing family G member 4; Pleckstrin homology domain-containing family G member 4; Purkinje cell atrophy-associated protein 1", "protein_names_refseq": "PH domain-containing family G member 4; Purkinje cell atrophy associated protein 1; pleckstrin homology domain containing, family G (with RhoGef domain) member 4; puratrophin-1 isoform 1; puratrophin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25894); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 361, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11948177;11961559;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12650940;12665586;12773384;12796826;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15148151;15157669;15260990;15302923;15304341;15339924;15342493;15455264;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16001362;16002401;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17611710;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23186163;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24859002;24933155;24960694;24996924;25024229;25025572;25211221;25428919;25576301;25645385;25704760;25721503;25795300;25862245;25880248;25963737;26129894;26154972;26299518;26371245;26529257;26598554;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27798618;27806292;27920218;27986909;28028151;28112683;28114311;28196833;28218747;28228285;28584191;28825699;28834231;28860633;28904123;29089502;29146911;29358323;29382922;29393594;29437277;29493099;29632046;29786170;30061681;30315122;30484775;30833945;30853411;31105010;31154438;31530632;31844290;31848261;31871319;32157095;32203420;32265295;32357974;32387766;32488085;32938616;32983136;33298915;33392160;33691108;33912179;33968037;34019948;34171305;34185709;34405274;34509645;35051231;35494241;35580925;36010968;36215666;36241641;37336836;37938771;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9582072;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Pleckstrin homology and RhoGEF domain containing G4 (PLEKHG4) leads to the activation of RhoGTPases promoting the malignant phenotypes of thyroid cancer., [RefSeq, PubMed]; Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi., [UniProtKB]; Puratrophin-1 has a role in intracellular signaling and actin dynamics at the Golgi apparatus, [RefSeq, PubMed]; Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle., [RefSeq, PubMed]; Spinocerebellar ataxia type 4 (SCA4) is mapped to chromosome 16q22.1 in northern germany.Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512., [RefSeq, PubMed]; The autosomal dominant cerebellar ataxia that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III., [RefSeq, PubMed]; The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4G0J8;Q4H485;Q56A69;Q9H7K4;Q9UFW0", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0019898 extrinsic component of membrane", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 36.4, "record_id": "Q58EX7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25208-1", "uniprot_id": [ { "id": "NFYB_HUMAN", "url": "https://www.uniprot.org/uniprot/P25208", "type": "external" } ], "mass": 22831.0, "length": 207, "protein_name": "Nuclear transcription factor Y subunit beta", "gene_name": "NFYB", "organism": "Human", "refseq_name": "nuclear transcription factor Y subunit beta isoform b", "refseq_ac": [ { "id": "NP_006157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006157", "type": "external" } ], "gene_names_uniprotkb": "NFYB; HAP3", "gene_names_refseq": "CBF-A; CBF-B; HAP3; NF-YB; NFYB", "protein_names_uniprotkb": "Nuclear transcription factor Y subunit beta; CAAT box DNA-binding protein subunit B; NF-YB; Nuclear transcription factor Y subunit B", "protein_names_refseq": "CAAT box DNA-binding protein subunit B; CCAAT-binding transcription factor subunit A; Transcription factor NF-Y, B subunit; nuclear transcription factor Y subunit B; nuclear transcription factor Y subunit beta isoform b; nuclear transcription factor Y, beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:4801); (R-HSA-1989781); (R-HSA-2426168); (R-HSA-380994); (R-HSA-381183); (R-HSA-9614657)", "pathway_count": 6, "publication_count": 138, "publication_id_list": "10102273;10400691;10759542;10777541;10958673;11237011;11267664;11414710;11777915;12083769;12118000;12177166;12401788;12505311;12582161;12764144;1377680;14576824;14701673;14742429;14973138;15067378;15130092;15243141;15385533;1549471;15509806;15635043;1577736;16380219;16687408;16912112;16931790;16943287;16972786;16989641;17449569;17925399;18158893;18285520;18540824;18559965;18654640;18682402;18719978;18726356;18840095;18848529;19088433;1968462;19710929;19934321;20022965;20110263;20138239;20361218;20450493;20719759;20937905;20978166;22412893;22634312;22802018;22819556;22978410;23269699;23332751;23707940;2377606;24196956;25418920;25576301;25802875;25880248;26154972;2663993;2664463;26715362;27561725;27920218;28228285;28832583;28834231;29242379;29393594;29413899;29533771;29557506;29632046;29632711;30315122;30429286;31154438;31844290;32157095;32161166;32357974;3260265;32938616;32983136;33592498;33691108;33912179;33968037;33981976;34019948;34185709;35051231;35580925;36010968;36152055;36215666;36241641;36434485;37742129;38510250;38665916;7567999;7592729;7685352;7732023;7892212;7909540;8020941;8619637;8626466;8626488;8647822;8663599;8798690;8976377;9012850;9099716;9604010;9634533;9748239;9748295;9837962", "class_list": "", "function": "Component of the sequence-specific heterotrimeric transcription factor (NF-Y) which specifically recognizes a 5'-CCAAT-3' box motif found in the promoters of its target genes. NF-Y can function as both an activator and a repressor, depending on its interacting cofactors., [UniProtKB, UniProtKB, UniProtKB]; Long Non-coding RNA H19 Recruits NFYB to Activate MBTD1 and Regulate Doxorubicin Resistance in Lymphoma Cells., [RefSeq, PubMed]; NFYB increases chemosensitivity in glioblastoma by promoting HDAC5-mediated transcriptional inhibition of SHMT2., [RefSeq, PubMed]; Over-expression of NFYB affects stromal cells reprogramming and predicts worse survival in gastric cancer patients., [RefSeq, PubMed]; The protein encoded by this gene is one subunit of a trimeric complex, forming a highly conserved transcription factor that binds with high specificity to CCAAT motifs in the promoter regions in a variety of genes. This gene product, subunit B, forms a tight dimer with the C subunit, a prerequisite for subunit A association. The resulting trimer binds to DNA with high specificity and affinity. Subunits B and C each contain a histone-like motif. Observation of the histone nature of these subunits is supported by two types of evidence; protein sequence alignments and experiments with mutants. [provided by RefSeq, Jul 2008]., [RefSeq]; Unraveling the intricacies of glioblastoma progression and recurrence: insights into the role of NFYB and oxidative phosphorylation at the single-cell level. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7B9;Q96IY8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0032993 protein-DNA complex;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "P25208-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99814-1", "uniprot_id": [ { "id": "EPAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99814", "type": "external" } ], "mass": 96459.0, "length": 870, "protein_name": "Endothelial PAS domain-containing protein 1", "gene_name": "EPAS1", "organism": "Human", "refseq_name": "endothelial PAS domain-containing protein 1", "refseq_ac": [ { "id": "NP_001421", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001421", "type": "external" } ], "gene_names_uniprotkb": "EPAS1; BHLHE73; HIF2A; MOP2; PASD2", "gene_names_refseq": "ECYT4; EPAS1; HIF2A; HLF; MOP2; PASD2; bHLHe73", "protein_names_uniprotkb": "Endothelial PAS domain-containing protein 1; Basic-helix-loop-helix-PAS protein MOP2; Class E basic helix-loop-helix protein 73; EPAS-1; HIF-1-alpha-like factor; HIF-2-alpha; HIF2-alpha; HLF; Hypoxia-inducible factor 2-alpha; Member of PAS protein 2; PAS domain-containing protein 2; bHLHe73", "protein_names_refseq": "EPAS-1; HIF-1-alpha-like factor; HIF-1alpha-like factor; HIF-2-alpha; HIF2-alpha; PAS domain-containing protein 2; basic-helix-loop-helix-PAS protein MOP2; class E basic helix-loop-helix protein 73; endothelial PAS domain-containing protein 1; hypoxia-inducible factor 2 alpha; member of PAS protein 2", "tax_id": 9606, "disease": "polycystic kidney disease (Disease Ontology:DOID:0080322); familial erythrocytosis 4 (Disease Ontology:DOID:0080339); pre-eclampsia (Disease Ontology:DOID:10591); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); von Hippel-Lindau disease (Disease Ontology:DOID:14175); cancer (Disease Ontology:DOID:162); acute kidney failure (Disease Ontology:DOID:3021); intermittent claudication (Disease Ontology:DOID:3669); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); renal cell carcinoma (Disease Ontology:DOID:4450); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398); polycythemia (Disease Ontology:DOID:8432); psoriasis (Disease Ontology:DOID:8893); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2034); (R-HSA-1234158); (R-HSA-1234174); (R-HSA-1234176); (R-HSA-452723); (R-HSA-8849473); (R-HSA-8951664); (R-HSA-9664873); (R-HSA-9909649)", "pathway_count": 9, "publication_count": 281, "publication_id_list": "10202154;10535940;10597293;10811609;10823831;10878807;10944113;10973499;11024059;11063749;11069780;11156414;11237011;11259415;11292861;11292862;11358837;11454738;11504942;11585840;11598268;11733065;11823643;11959977;11959990;11961546;12042299;12080085;12101228;12186903;12351678;12504025;12504026;12526791;12538644;12609982;12615973;12682069;12759363;12787505;12788921;12816948;12821933;12912907;14668441;14688391;14690597;14701857;14757770;15108323;15184875;15239670;15247232;15277698;15282312;15342930;15361859;15367669;15474027;15493035;15513931;15537541;15572695;15574592;15582778;15601839;15625129;15652483;15652751;15688063;15694336;15695770;15743839;15799966;15860457;15983365;15987702;15988017;16153702;16171779;16181639;16401342;16547496;16647857;16707496;16738327;16790436;16943200;16978057;17024177;17068183;17074750;17081101;17132228;17182618;17183367;17204602;17220875;17267691;17332328;17434750;17497243;17506876;17567999;17572666;17580304;17628018;17785452;17804822;18029452;18035408;18093314;18184961;18187047;18206966;18212089;18337469;18378852;18775313;18776931;18805092;18824471;18826954;18851830;18926707;18991276;19088198;19151334;19208626;19250909;19250911;19321346;19398892;19489980;19522013;19604364;19617556;19688839;19748355;19755485;19788888;19829295;19966271;20027182;20505756;20505821;20837710;20953172;20966255;21335549;21447816;21463634;21479871;21630377;21778237;21863050;21924763;21940857;22210884;22215994;22286099;22306028;22327294;22367913;22466964;22537386;22959436;22988117;23178592;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23827706;23827708;23912815;23928995;23986495;24076655;24366543;24613356;24636985;24715725;24793695;24793696;25043035;25314029;25349211;25355947;25440060;25531226;25576301;25645385;25683712;26154972;26160453;26344566;26344709;26460955;26632597;26825173;26906416;27030794;27068951;27222660;27565346;27600516;27862975;28115426;28832583;29153394;29242379;29393594;29557506;29632046;29786170;29789417;30379171;30385408;30429286;30524438;30610225;30700497;30779550;30833945;31131315;31154438;31356149;31844290;31848261;32005965;32157095;32161166;32183950;32284348;32488085;32860047;32938616;32983136;33444648;33537174;33592498;33968037;33981976;34087483;34171305;34185709;35051231;35580925;36010968;36215666;36241641;36284347;36417539;36930720;37938771;38941296;39113713;39154793;39179631;39456823;7539918;7836384;8387214;8663540;8756616;8917528;9000051;9027736;9079689;9122164;9632793;9790970;9822602;9840812;9887101;9891082", "class_list": "", "function": "HIF-2alpha expression and metabolic signaling require ACSS2 in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia-driven heterogeneous expression of alpha5 integrin in glioblastoma stem cells is linked to HIF-2alpha., [RefSeq, PubMed]; LAT1 expression in colorectal cancer cells is unresponsive to HIF-1/2alpha accumulation under experimental hypoxia. Publication Status: Online-Only, [RefSeq, PubMed]; NRF2-HIF2alpha Signaling Attenuates Endothelial Cell Senescence and Maintains Intercellular Junctions in Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Pilot Study on the Effect of Patient Condition and Clinical Parameters on Hypoxia-Induced Factor Expression: HIF1A, EPAS1 and HIF3A in Human Colostrum Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. The encoded protein contains a basic-helix-loop-helix domain protein dimerization domain as well as a domain found in proteins in signal transduction pathways which respond to oxygen levels. Mutations in this gene are associated with erythrocytosis familial type 4. [provided by RefSeq, Nov 2009]., [RefSeq]; Transcription factor involved in the induction of oxygen regulated genes. Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (By similarity). Regulates the vascular endothelial growth factor (VEGF) expression and seems to be implicated in the development of blood vessels and the tubular system of lung. May also play a role in the formation of the endothelium that gives rise to the blood brain barrier. Potent activator of the Tie-2 tyrosine kinase expression. Activation requires recruitment of transcriptional coactivators such as CREBBP and probably EP300. Interaction with redox regulatory protein APEX1 seems to activate CTAD (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 19, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86VA2;Q99630", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0001525 angiogenesis;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001666 response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 28.4, "record_id": "Q99814-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UT5-1", "uniprot_id": [ { "id": "NHRF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UT5", "type": "external" } ], "mass": 61032.0, "length": 571, "protein_name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF4", "gene_name": "NHERF4", "organism": "Human", "refseq_name": "Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 1", "refseq_ac": [ { "id": "NP_001161940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161940", "type": "external" } ], "gene_names_uniprotkb": "NHERF4; DLNB27; IKEPP; PDZD3; PDZK2", "gene_names_refseq": "IKEPP; NHERF4; PDZD3; PDZK2", "protein_names_uniprotkb": "Na(+)/H(+) exchange regulatory cofactor NHE-RF4; Intestinal and kidney-enriched PDZ protein; NHERF-4; Na/Pi cotransporter C-terminal-associated protein 2; NaPi-Cap2; Natrium-phosphate cotransporter IIa C-terminal-associated protein 2; PDZ domain-containing protein 2; PDZ domain-containing protein 3; Sodium-hydrogen exchanger regulatory factor 4", "protein_names_refseq": "NHERF-4; Na(+)/H(+) exchange regulatory cofactor 4; Na(+)/H(+) exchange regulatory cofactor NHE-RF4 isoform 1; Na(+)/H(+) exchange regulatory cofactor NHE-RF4; PDZ domain containing 2; PDZ domain containing 3; PDZ domain-containing protein 2; PDZ domain-containing protein 3; intestinal and kidney enriched PDZ protein; na/Pi cotransporter C-terminal-associated protein 2; naPi-Cap2; natrium-phosphate cotransporter IIa C-terminal-associated protein 2; sodium-hydrogen exchanger regulatory factor 4", "tax_id": 9606, "disease": "hypophosphatemic nephrolithiasis/osteoporosis 2 (Disease Ontology:DOID:0080078)", "pathway": " (hsa:79849); (R-HSA-8942233)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11123935;11237011;11950846;19088451;19960363;22069677;22627094;22884631;23269669;26756164;31844290;32488085;39894887", "class_list": "", "function": "A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor., [RefSeq, PubMed]; Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation (PubMed:11950846). Stimulates SLC9A3 activity in the presence of elevated calcium ions (PubMed:19088451)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).[supplied by OMIM, Mar 2008]., [RefSeq]; IKEPP was also found to be expressed in vascular endothelial cells where it co-localizes and complexes with the hIP Erratum:[Biochim Biophys Acta. 2015 Jan;1853(1):63-4], [RefSeq, PubMed]; Regulation of NHE3 depends on the nature of the NHERF family member associating with NHE3 and the accompanying NHE3 complexes., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N6R4;Q8NAW7;Q8NEX7;Q9H5Z3", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0043495 protein-membrane adaptor activity;GO:0008200 ion channel inhibitor activity;GO:1990381 ubiquitin-specific protease binding;GO:0030251 guanylate cyclase inhibitor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005903 brush border;GO:0045177 apical part of cell;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0072659 protein localization to plasma membrane;GO:0009636 response to toxic substance;GO:0007168 receptor guanylyl cyclase signaling pathway;GO:0006833 water transport", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q86UT5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EW2-1", "uniprot_id": [ { "id": "HBAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EW2", "type": "external" } ], "mass": 55167.0, "length": 488, "protein_name": "HSPB1-associated protein 1", "gene_name": "HSPBAP1", "organism": "Human", "refseq_name": "HSPB1-associated protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001307657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307657", "type": "external" } ], "gene_names_uniprotkb": "HSPBAP1; PASS1", "gene_names_refseq": "HSPBAP1; PASS1", "protein_names_uniprotkb": "HSPB1-associated protein 1; 27 kDa heat shock protein-associated protein 1; Protein associated with small stress protein 1", "protein_names_refseq": "27 kDa heat shock protein-associated protein 1; HSPB (heat shock 27kDa) associated protein 1; HSPB1-associated protein 1 isoform 2; protein associating with small stress protein PASS1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79663)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10751411;11978969;12939738;17568411;23481700;25359680;25576301;25892735;26375851;26992070;28218747;28228285;28832583;28904123;29393594;29437277;29493099;30315122;31844290;32157095;32488085;32938616;33392160;33912179;34171305;35051231", "class_list": "", "function": "Data suggest a novel role and a possible link for HSPBAP1 in promoting prostate cancer cell survival in androgen-deficient conditions by maintaining a basal level of androgen receptor-mediated transcription., [RefSeq, PubMed]; HSPBAP1 is found extensively in the anterior temporal neocortex of patients with intractable epilepsy., [RefSeq, PubMed]; May play a role in cellular stress response., [UniProtKB]; Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain, [RefSeq, PubMed]; This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P476;Q8N8J4;Q8NHH6;Q8WWF0", "ec_number_list": [], "go_molecular_function": "GO:0016706 2-oxoglutarate-dependent dioxygenase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96EW2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDS5-1", "uniprot_id": [ { "id": "OXER1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDS5", "type": "external" } ], "mass": 41426.0, "length": 384, "protein_name": "Oxoeicosanoid receptor 1", "gene_name": "OXER1", "organism": "Human", "refseq_name": "oxoeicosanoid receptor 1", "refseq_ac": [ { "id": "NP_683765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_683765", "type": "external" } ], "gene_names_uniprotkb": "OXER1; GPR170; TG1019", "gene_names_refseq": "GPCR; GPR170; OXER1; TG1019", "protein_names_uniprotkb": "Oxoeicosanoid receptor 1; 5-oxo-ETE G protein-coupled receptor; G protein-coupled receptor 170; G protein-coupled receptor R527; G protein-coupled receptor TG1019", "protein_names_refseq": "5-oxo-ETE G-protein coupled receptor; 5-oxo-ETE acid G-protein-coupled receptor 1; G-protein coupled receptor 170; G-protein coupled receptor R527; G-protein coupled receptor TG1019; OXE receptor; oxoeicosanoid (OXE) receptor 1; oxoeicosanoid receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:165140); (R-HSA-391903); (R-HSA-418594)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "11007482;12044878;12065583;12120503;12606753;15951850;16634148;16923326;18434541;18577758;23481700;2534964;2748346;28228285;2834384;34634385;34775286;38176394;7937899;8015379;8406495", "class_list": "", "function": "Biological Roles of 5-Oxo-6,8,11,14-Eicosatetraenoic Acid and the OXE Receptor in Allergic Diseases: Collegium Internationale Allergologicum Update 2024. Review article, [RefSeq, PubMed]; Enhanced OXER1 expression is indispensable for human cancer cell migration., [RefSeq, PubMed]; Identification and cloning of a novel GPCR, R527; 5-oxo-ETE was identified as the ligand for R527; very high level of mRNA expression in eosinophils with high expression also detected in neutrophils and lung macrophages, [RefSeq, PubMed]; Identification of a novel human receptor coupled to G(i/o)., [RefSeq, PubMed]; OXER1 mediates testosterone-induced calcium responses in prostate cancer cells., [RefSeq, PubMed]; Receptor for eicosanoids and polyunsaturated fatty acids such as 5-oxo-6E,8Z,11Z,14Z-eicosatetraenoic acid (5-OXO-ETE), 5(S)-hydroperoxy-6E,8Z,11Z,14Z-eicosatetraenoic acid (5(S)-HPETE) and arachidonic acid. Seems to be coupled to the G(i)/G(o), families of heteromeric G proteins., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86WP7;Q8NGW4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0050646 5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding;GO:0050647 5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding;GO:0050648 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8TDS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15350-1", "uniprot_id": [ { "id": "P73_HUMAN", "url": "https://www.uniprot.org/uniprot/O15350", "type": "external" } ], "mass": 69623.0, "length": 636, "protein_name": "Tumor protein p73", "gene_name": "TP73", "organism": "Human", "refseq_name": "tumor protein p73 isoform b", "refseq_ac": [ { "id": "NP_001119712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119712", "type": "external" } ], "gene_names_uniprotkb": "TP73; P73", "gene_names_refseq": "CILD47; P73; TP73", "protein_names_uniprotkb": "Tumor protein p73; p53-like transcription factor; p53-related protein", "protein_names_refseq": "p53-like transcription factor; p53-related protein; tumor protein p73 isoform b", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); triple-receptor negative breast cancer (Disease Ontology:DOID:0060081); prostate cancer (Disease Ontology:DOID:10283); prostate carcinoma (Disease Ontology:DOID:10286); stomach cancer (Disease Ontology:DOID:10534); otitis media (Disease Ontology:DOID:10754); urinary bladder cancer (Disease Ontology:DOID:11054); prostatic hypertrophy (Disease Ontology:DOID:11132); lung cancer (Disease Ontology:DOID:1324); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); nephroblastoma (Disease Ontology:DOID:2154); transitional cell carcinoma (Disease Ontology:DOID:2671); Epstein-Barr virus infectious disease (Disease Ontology:DOID:2938); testicular cancer (Disease Ontology:DOID:2998); breast ductal carcinoma (Disease Ontology:DOID:3007); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); lung small cell carcinoma (Disease Ontology:DOID:5409); adenoma (Disease Ontology:DOID:657); hepatocellular carcinoma (Disease Ontology:DOID:684); neuroblastoma (Disease Ontology:DOID:769); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); colorectal cancer (Disease Ontology:DOID:9256); primary ciliary dyskinesia (Disease Ontology:DOID:9562); ciliary dyskinesia, primary, 47, and lissencephaly (MONDO:MONDO:0030346)", "pathway": " (hsa:7161); (R-HSA-139915); (R-HSA-6803204); (R-HSA-6803205); (R-HSA-6803207); (R-HSA-6803211); (R-HSA-6804759); (R-HSA-8939236)", "pathway_count": 8, "publication_count": 177, "publication_id_list": "10203277;10329733;10362363;10381648;10391251;10393175;10449409;10733530;10777207;10807576;10961991;10973264;11030628;11054413;11278253;11382926;11390368;11463392;11511362;11559530;11572983;11675392;11684014;11706030;11714700;11717445;11753569;11847229;11919562;11925430;12089322;12097319;12198154;12203124;12402042;12494467;12524540;12606722;12676926;12890487;1321151;1373520;14585975;14614825;14623878;14684737;14688482;14729977;15070730;15073321;15126337;15273740;15289308;15377670;15558019;15577913;15580302;15598651;15607964;15678106;15735003;15769996;15797384;15837622;15958553;15985436;16135520;16140933;16183742;16230375;16249378;16382142;16461361;17145718;17284521;17349958;17442733;17535448;17719541;18174154;18275817;18280240;18418051;18532927;18617898;18676979;18701449;19040420;19218448;19303885;19349281;19377469;19490146;19549844;19581926;19615968;20075864;20303873;20353938;20887958;21571218;21994467;22012064;22334068;22340593;22538442;22766503;22854598;22864287;22897851;22975685;23059823;23182941;23365256;23671130;23684607;23703390;23931759;24260043;24314664;24714389;24715725;24874608;25043025;25080938;25356872;25394790;25528640;25576301;26071602;26378048;26992070;27137657;27228340;28228285;28257089;28291250;28832583;28834231;29242379;30315122;30779550;31092671;31217245;31324691;31844290;32157095;32161166;32357974;32488085;32502341;33141586;33375680;33633747;33691108;33717175;33981976;34077761;34211107;34932366;35051231;35318648;36010968;36284347;36581221;37931077;38415554;38629257;38739802;7566179;7834749;7991565;8242741;9288759;9326928;9721206;9802988", "class_list": "", "function": "DeltaNp73 and its effector targets promote colorectal peritoneal carcinosis and predict survival., [RefSeq, PubMed]; Dichotomous transactivation domains contribute to growth inhibitory and promotion functions of TAp73., [RefSeq, PubMed]; Lack of Association between TP73 G4C14-A4T14 Polymorphism and Cervical Cancer Risk in Overall and Asian Women: A Meta-Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of p73 Expression Contributes to Chronic Obstructive Pulmonary Disease., [RefSeq, PubMed]; Participates in the apoptotic response to DNA damage. Isoforms containing the transactivation domain are pro-apoptotic, isoforms lacking the domain are anti-apoptotic and block the function of p53 and transactivating p73 isoforms. May be a tumor suppressor protein. Is an activator of FOXJ1 expression (By similarity). It is an essential factor for the positive regulation of lung ciliated cell differentiation (PubMed:34077761)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; TP73 gene is imprinted, with monoallelic expression likely from the maternal allele., [RefSeq, PubMed]; This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neuroblastoma and other tumors, and thought to contain multiple tumor suppressor genes. The demonstration that this gene is monoallelically expressed (likely from the maternal allele), supports the notion that it is a candidate gene for neuroblastoma. Many transcript variants resulting from alternative splicing and/or use of alternate promoters have been found for this gene, but the biological validity and the full-length nature of some variants have not been determined. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 14, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 28, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DFW9;B7Z7J4;B7Z8Z1;B7Z9C1;C9J521;O15351;Q17RN8;Q5TBV5;Q5TBV6;Q8NHW9;Q8TDY5;Q8TDY6;Q9NTK8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:1901248 positive regulation of lung ciliated cell differentiation;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051262 protein tetramerization", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "O15350-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q56P42-1", "uniprot_id": [ { "id": "PYDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q56P42", "type": "external" } ], "mass": 10795.0, "length": 97, "protein_name": "Pyrin domain-containing protein 2", "gene_name": "PYDC2", "organism": "Human", "refseq_name": "pyrin domain-containing protein 2", "refseq_ac": [ { "id": "NP_001076777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076777", "type": "external" } ], "gene_names_uniprotkb": "PYDC2; POP2", "gene_names_refseq": "POP2; PYDC2; cPOP2", "protein_names_uniprotkb": "Pyrin domain-containing protein 2; Pyrin-only protein 2; cPOP2; cellular POP2", "protein_names_refseq": "cellular POP2; pyrin domain-containing protein 2; pyrin-only protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:152138)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "17178784;17339483;21362197;24871464;28580931;34294014", "class_list": "", "function": "Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's disease susceptibility and clinical manifestations., [RefSeq, PubMed]; May play a role in innate immunity by disrupting the interaction between PYCARD and NLRP3, thereby regulating the NLRP3 inflammasome (PubMed:17178784, PubMed:17339483). May also inhibit NF-kappa-B signaling distally by affecting the nuclear accumulation of RELA (PubMed:17339483, PubMed:24871464)., [UniProtKB, PubMed, PubMed, PubMed]; POP2 inhibits both the interaction of ASC with various NLR pyrin domains and inhibits NF-kappaB p65 (RelA)., [RefSeq, PubMed]; POP2 inhibits inflammasome priming and activation GeneRIF: PYDC2 inhibits NF-kB activation through the non-canonical kinase IKK epsilon. PYDC2 interferes with ASC oligomerization and with ASC-inflammasome activation resulting in reduced production of Interleukin-1-beta and reduced IL-18 secretion, as well as reduced pyroptosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0032691 negative regulation of interleukin-1 beta production;GO:0050728 negative regulation of inflammatory response;GO:1901223 negative regulation of non-canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q56P42-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60225-1", "uniprot_id": [ { "id": "SSX5_HUMAN", "url": "https://www.uniprot.org/uniprot/O60225", "type": "external" } ], "mass": 21660.0, "length": 188, "protein_name": "Protein SSX5", "gene_name": "SSX5", "organism": "Human", "refseq_name": "protein SSX5 isoform a", "refseq_ac": [ { "id": "NP_066295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066295", "type": "external" } ], "gene_names_uniprotkb": "SSX5", "gene_names_refseq": "SSX5", "protein_names_uniprotkb": "Protein SSX5", "protein_names_refseq": "protein SSX5 isoform a; protein SSX5; synovial sarcoma, X breakpoint 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:6758)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "25645385;29557506;9378559", "class_list": "", "function": "Could act as a modulator of transcription., [UniProtKB]; The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JQ59;Q5JQ60;Q96AW3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "O60225-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00244-1", "uniprot_id": [ { "id": "ATOX1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00244", "type": "external" } ], "mass": 7402.0, "length": 68, "protein_name": "Copper transport protein ATOX1", "gene_name": "ATOX1", "organism": "Human", "refseq_name": "copper transport protein ATOX1", "refseq_ac": [ { "id": "NP_004036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004036", "type": "external" } ], "gene_names_uniprotkb": "ATOX1; HAH1", "gene_names_refseq": "ATOX1; ATX1; HAH1", "protein_names_uniprotkb": "Copper transport protein ATOX1; Metal transport protein ATX1", "protein_names_refseq": "ATX1 antioxidant protein 1 homolog; copper transport protein ATOX1; metal transport protein ATX1", "tax_id": 9606, "disease": "", "pathway": " (hsa:475); (R-HSA-3299685); (R-HSA-6803544)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "10029572;10514471;10521424;10656833;10833429;10919671;10966647;10982;11018045;11139407;11237011;11507097;11518528;11886899;11912930;12446202;12594858;12829378;15044467;15046979;15064408;15280035;15317809;15596429;15927447;16401067;16615992;1668270;16750198;16880213;17275676;17519234;1763037;17707404;18358825;18703498;18936159;19219623;19453293;19542232;19608861;1999334;20070187;20367259;20690882;2071038;21215271;21385867;21393238;21667063;21967640;22389498;22493009;22869735;22910329;23028306;23152058;23164639;23186163;23301498;23454490;23455484;24366607;24714562;24715725;24837030;25047527;26055706;26154972;26213915;26745413;26992070;27846572;28904123;29493099;29557506;30484775;31154438;31283225;31530632;31844290;31848261;32157095;32350084;32387766;32488085;32938616;32983136;33592498;33912179;33968037;34357683;3457020;34932366;35051231;35154160;35251023;3532102;35580925;36067318;3619451;36208051;36215666;36284347;36291703;3693360;37938771;38041690;38665916;38813981;5389100;60;6286671;6961438;7021796;7172448;7487923;807573;8379940;8428933;8452552;8663465;9083055;9295278;9369223;9639555;9726962;9923614", "class_list": "", "function": "Atox1-cyclin D1 loop activity is critical for survival of tumor cells with inactivated TP53., [RefSeq, PubMed]; Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Copper coordination states affect the flexibility of copper Metallochaperone Atox1: Insights from molecular dynamics simulations., [RefSeq, PubMed]; Crystal Structure of the Human Copper Chaperone ATOX1 Bound to Zinc Ion. Publication Status: Online-Only, [RefSeq, PubMed]; Cuproptosis-related gene LIPT1 as a prognostic indicator in non-small cell lung cancer: Functional involvement and regulation of ATOX1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Memo1 binds reduced copper ions, interacts with copper chaperone Atox1, and protects against copper-mediated redox activity in vitro., [RefSeq, PubMed]; This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KAJ8;D3DQI2;Q2M1R6;Q56AP3", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0005507 copper ion binding;GO:0032767 copper-dependent protein binding;GO:1903136 cuprous ion binding;GO:0016530 metallochaperone activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0006979 response to oxidative stress;GO:0043066 negative regulation of apoptotic process;GO:0006825 copper ion transport;GO:0060003 copper ion export", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "O00244-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48775-1", "uniprot_id": [ { "id": "T23O_HUMAN", "url": "https://www.uniprot.org/uniprot/P48775", "type": "external" } ], "mass": 47872.0, "length": 406, "protein_name": "Tryptophan 2,3-dioxygenase", "gene_name": "TDO2", "organism": "Human", "refseq_name": "tryptophan 2,3-dioxygenase", "refseq_ac": [ { "id": "NP_005642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005642", "type": "external" } ], "gene_names_uniprotkb": "TDO2; TDO", "gene_names_refseq": "HYPTRP; TDO2; TDO; TO; TPH2; TRPO", "protein_names_uniprotkb": "Tryptophan 2,3-dioxygenase; 1.13.11.11; TDO; TO; TRPO; Tryptamin 2,3-dioxygenase; Tryptophan oxygenase; Tryptophan pyrrolase; Tryptophanase", "protein_names_refseq": "tryptamin 2,3-dioxygenase; tryptophan 2,3-dioxygenase; tryptophan oxygenase; tryptophan pyrrolase; tryptophanase", "tax_id": 9606, "disease": "familial hypertryptophanemia (Disease Ontology:DOID:0111703); Gilles de la Tourette syndrome (Disease Ontology:DOID:11119); diabetes mellitus (Disease Ontology:DOID:9351)", "pathway": " (hsa:6999); (R-HSA-71240)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10049700;10391915;10672018;11140838;11237011;12007602;12140278;12634647;13069505;14755447;15364907;15880762;16094384;16376499;16477023;17671174;18056995;18262359;18620547;19338303;21097500;23478338;24715725;25066423;27762317;28285122;29557506;31844290;31848261;32157095;33592498;34185709;35051231;35580925;35679834;35733134;35970080;36010968;36284347;7514594;7883047;8294935;8666386;9180257", "class_list": "", "function": "Essential Roles of TDO2 in Gastric Cancer: TDO2 Is Associated with Cancer Progression, Patient Survival, PD-L1 Expression, and Cancer Stem Cells., [RefSeq, PubMed]; Heme-dependent dioxygenase that catalyzes the oxidative cleavage of the L-tryptophan (L-Trp) pyrrole ring and converts L-tryptophan to N-formyl-L-kynurenine. Catalyzes the oxidative cleavage of the indole moiety., [UniProtKB, HAMAP, PubMed, PubMed, PubMed]; High levels of TDO2 in relation to pro-inflammatory cytokines in synovium and synovial fluid of patients with osteoarthritis. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Polymorphism of tryptophan 2,3 dioxygenase gene is associated with autism., [RefSeq, PubMed]; The activity and mRNA expression level of indoleamine 2,3-dioxygenase in term placentas were significantly lower in preeclampsia. Could cause dysregulation of inflammatory response intrinsic to normal pregnancy., [RefSeq, PubMed]; This gene encodes a heme enzyme that plays a critical role in tryptophan metabolism by catalyzing the first and rate-limiting step of the kynurenine pathway. Increased activity of the encoded protein and subsequent kynurenine production may also play a role in cancer through the suppression of antitumor immune responses, and single nucleotide polymorphisms in this gene may be associated with autism. [provided by RefSeq, Feb 2012]., [RefSeq]; Tryptophan degradation enzymes and Angiotensin (1-7) expression in human placenta., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K053", "ec_number_list": [ { "id": "1.13.11.52", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.52", "type": "external" }, { "id": "1.13.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.11", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0016597 amino acid binding;GO:0020037 heme binding;GO:0019825 oxygen binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0019441 L-tryptophan catabolic process to kynurenine;GO:0045471 response to ethanol;GO:0051289 protein homotetramerization;GO:0051414 response to cortisol;GO:0019442 L-tryptophan catabolic process to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P48775-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55957-1", "uniprot_id": [ { "id": "BID_HUMAN", "url": "https://www.uniprot.org/uniprot/P55957", "type": "external" } ], "mass": 21995.0, "length": 195, "protein_name": "BH3-interacting domain death agonist", "gene_name": "BID", "organism": "Human", "refseq_name": "BH3-interacting domain death agonist isoform 2", "refseq_ac": [ { "id": "NP_001187", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001187", "type": "external" } ], "gene_names_uniprotkb": "BID", "gene_names_refseq": "BID; FP497", "protein_names_uniprotkb": "BH3-interacting domain death agonist; BID; CCRF; Cytochrome c Releasing Factor; Truncated Bid; p11 BID; p13 BID; p22 BID; tBid", "protein_names_refseq": "BH3-interacting domain death agonist isoform 2; Human BID coding sequence; apoptic death agonist; desmocollin type 4; p22 BID", "tax_id": 9606, "disease": "pre-malignant neoplasm (Disease Ontology:DOID:0060071); traumatic brain injury (Disease Ontology:DOID:0081292); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); pancreatic cancer (Disease Ontology:DOID:1793); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:637); (R-HSA-111447); (R-HSA-111452); (R-HSA-111453); (R-HSA-114294); (R-HSA-6803204); (R-HSA-75108)", "pathway_count": 7, "publication_count": 101, "publication_id_list": "10089877;10195903;10198631;10480954;10629050;10807576;10949026;10950869;11030628;11099414;11114298;11136736;11463392;11511362;11546872;11583622;11684014;11697890;12176904;12402042;12606722;12624108;12657644;12721291;12804595;14583606;14729977;15126337;15273740;15592455;15607964;15660102;15661737;15735003;16122425;16122426;16497976;17016520;17256834;17349958;17525332;18309326;18451170;18591385;18617898;19377469;20392206;22334068;22766503;23291630;23301498;23365256;23684607;23931759;24346116;24366607;24714562;24767991;25077544;25080938;25760094;26071602;27846572;27920218;28218747;28514659;28832583;28904123;29167312;29242379;29531808;29557506;29786170;30315122;30429286;31217245;31844290;31848261;32029622;32157095;32983136;33106313;33141586;33298915;33592498;33717175;33912179;33936100;34357683;34389447;34931711;34932366;35580925;37443114;38665916;39445501;7834748;7834749;8918887;9721221;9727491", "class_list": "", "function": "BCL-2-family protein tBID can act as a BAX-like effector of apoptosis., [RefSeq, PubMed]; BID expression determines the apoptotic fate of cancer cells after abrogation of the spindle assembly checkpoint by AURKB or TTK inhibitors. Publication Status: Online-Only, [RefSeq, PubMed]; Does not induce apoptosis., [UniProtKB, PubMed]; Induces ICE-like proteases and apoptosis., [UniProtKB, PubMed]; Induces caspase activation and apoptosis (PubMed:15661737, PubMed:32029622). Translocates to mitochondria following cleavage and disrupts the outer mitochondrial membrane leading to the release of cytochrome c (PubMed:10480954, PubMed:32029622, PubMed:9727491)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Induces caspases and apoptosis (PubMed:14583606). Counters the protective effect of BCL2 (By similarity)., [UniProtKB, UniProtKB, PubMed]; Influence of thyroid hormone in the expression of the marker pro-apoptosis BID, in spite of the predominance of anti-apoptosis activation in intratiroidal lymphocytic infiltration in Hashimoto's thyroiditis., [RefSeq, PubMed]; RNA sequencing comparing centenarian and middle-aged women lymphoblastoid cell lines identifies age-related dysregulated expression of genes encoding selenoproteins, heat shock proteins, CD99, and BID., [RefSeq, PubMed]; This gene encodes a death agonist that heterodimerizes with either agonist BAX or antagonist BCL2, and thus regulate apoptosis. The encoded protein is a member of the BCL-2 family of cell death regulators. It is a mediator of mitochondrial damage induced by caspase-8 (CASP8); CASP8 cleaves this encoded protein, and the COOH-terminal part translocates to mitochondria where it triggers cytochrome c release. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Aug 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q549M7;Q71T04;Q7Z4M9;Q8IY86", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0005123 death receptor binding;GO:0043028 cysteine-type endopeptidase regulator activity involved in apoptotic process", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0051402 neuron apoptotic process;GO:0031334 positive regulation of protein-containing complex assembly;GO:0042770 signal transduction in response to DNA damage;GO:2001238 positive regulation of extrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P55957-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95971-1", "uniprot_id": [ { "id": "BY55_HUMAN", "url": "https://www.uniprot.org/uniprot/O95971", "type": "external" } ], "mass": 19810.0, "length": 181, "protein_name": "CD160 antigen", "gene_name": "CD160", "organism": "Human", "refseq_name": "CD160 antigen precursor", "refseq_ac": [ { "id": "NP_008984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008984", "type": "external" } ], "gene_names_uniprotkb": "CD160; BY55", "gene_names_refseq": "BY55; CD160; NK1; NK28", "protein_names_uniprotkb": "CD160 antigen; Natural killer cell receptor BY55", "protein_names_refseq": "CD160 antigen precursor; CD160 antigen; CD160-delta Ig; natural killer cell receptor BY55; natural killer cell receptor, immunoglobulin superfamily member", "tax_id": 9606, "disease": "", "pathway": " (hsa:11126); (R-HSA-198933)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;11978774;12213321;12483297;12486241;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16809620;16893496;16904340;16928187;17045824;17057721;17237375;17307798;17337780;18031695;18037897;18055229;18193050;18209062;18234675;18593354;19109136;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23761635;23929856;24305946;24715725;25255144;25703557;25716998;26284469;26300885;29557506;30429286;32983136;34357683;36110864;36163624;37014183;37455567;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896;9743336;9973372", "class_list": "", "function": "BY55 functions as a co-receptor in TCR signal transduction of a human cytotoxic effector T lymphocyte subset lacking CD28 expression, [RefSeq, PubMed]; CD160 Promotes NK Cell Functions by Upregulating Glucose Metabolism and Negatively Correlates With HIV Disease Progression. Publication Status: Online-Only, [RefSeq, PubMed]; CD160 is an 27 kDa glycoprotein which was initially identified with the monoclonal antibody BY55. Its expression is tightly associated with peripheral blood NK cells and CD8 T lymphocytes with cytolytic effector activity. The cDNA sequence of CD160 predicts a cysteine-rich, glycosylphosphatidylinositol-anchored protein of 181 amino acids with a single Ig-like domain weakly homologous to KIR2DL4 molecule. CD160 is expressed at the cell surface as a tightly disulfide-linked multimer. RNA blot analysis revealed CD160 mRNAs of 1.5 and 1.6 kb whose expression was highly restricted to circulating NK and T cells, spleen and small intestine. Within NK cells CD160 is expressed by CD56dimCD16+ cells whereas among circulating T cells its expression is mainly restricted to TCRgd bearing cells and to TCRab+CD8brightCD95+CD56+CD28-CD27-cells. In tissues, CD160 is expressed on all intestinal intraepithelial lymphocytes. CD160 shows a broad specificity for binding to both classical and nonclassical MHC class I molecules. [provided by RefSeq, Jul 2008]., [RefSeq]; Plasma extracellular vesicle transcriptomics identifies CD160 for predicting immunochemotherapy efficacy in lung cancer., [RefSeq, PubMed]; Receptor on immune cells capable to deliver stimulatory or inhibitory signals that regulate cell activation and differentiation. Exists as a GPI-anchored and as a transmembrane form, each likely initiating distinct signaling pathways via phosphoinositol 3-kinase in activated NK cells and via LCK and CD247/CD3 zeta chain in activated T cells (PubMed:11978774, PubMed:17307798, PubMed:19109136). Receptor for both classical and non-classical MHC class I molecules (PubMed:12486241, PubMed:9973372). In the context of acute viral infection, recognizes HLA-C and triggers NK cell cytotoxic activity, likely playing a role in anti-viral innate immune response (PubMed:12486241). On CD8+ T cells, binds HLA-A2-B2M in complex with a viral peptide and provides a costimulatory signal to activated/memory T cells (PubMed:9973372). Upon persistent antigen stimulation, such as occurs during chronic viral infection, may progressively inhibit TCR signaling in memory CD8+ T cells, contributing to T cell exhaustion (PubMed:25255144). On endothelial cells, recognizes HLA-G and controls angiogenesis in immune privileged sites (PubMed:16809620). Receptor or ligand for TNF superfamily member TNFRSF14, participating in bidirectional cell-cell contact signaling between antigen presenting cells and lymphocytes. Upon ligation of TNFRSF14, provides stimulatory signal to NK cells enhancing IFNG production and anti-tumor immune response (By similarity). On activated CD4+ T cells, interacts with TNFRSF14 and down-regulates CD28 costimulatory signaling, restricting memory and alloantigen-specific immune response (PubMed:18193050). In the context of bacterial infection, acts as a ligand for TNFRSF14 on epithelial cells, triggering the production of antimicrobial proteins and pro-inflammatory cytokines (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; TIM-3/Galectin-9 and CD160 expression in salivary adenoid cystic carcinoma., [RefSeq, PubMed]; The soluble GPI-cleaved form, usually released by activated lymphocytes, might play an immune regulatory role by limiting lymphocyte effector functions., [UniProtKB, PubMed]; [Expression of CD160 in natural killer (NK) cells from patients with active tuberculosis and its relationship with cell functions]., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A0B4J2A1;B8PRF2;Q5T2V6", "ec_number_list": [], "go_molecular_function": "GO:0023024 MHC class I protein complex binding;GO:0032394 MHC class Ib receptor activity;GO:0005102 signaling receptor binding;GO:0019900 kinase binding;GO:0032393 MHC class I receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0045087 innate immune response;GO:0031295 T cell costimulation;GO:0002250 adaptive immune response;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "O95971-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04275-1", "uniprot_id": [ { "id": "VWF_HUMAN", "url": "https://www.uniprot.org/uniprot/P04275", "type": "external" } ], "mass": 309265.0, "length": 2813, "protein_name": "von Willebrand factor", "gene_name": "VWF", "organism": "Human", "refseq_name": "von Willebrand factor preproprotein", "refseq_ac": [ { "id": "NP_000543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000543", "type": "external" } ], "gene_names_uniprotkb": "VWF; F8VWF", "gene_names_refseq": "F8VWF; VWD; VWF", "protein_names_uniprotkb": "von Willebrand factor; vWF; von Willebrand antigen II", "protein_names_refseq": "Factor VIII related antigen; coagulation factor VIII VWF; von Willebrand factor preproprotein", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); atrial fibrillation (Disease Ontology:DOID:0060224); von Willebrand's disease 1 (Disease Ontology:DOID:0060573); von Willebrand's disease 2 (Disease Ontology:DOID:0060574); thrombosis (Disease Ontology:DOID:0060903); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); von Willebrand's disease 3 (Disease Ontology:DOID:0111054); osteonecrosis (Disease Ontology:DOID:10159); hypertension (Disease Ontology:DOID:10763); intracranial aneurysm (Disease Ontology:DOID:10941); alcoholic hepatitis (Disease Ontology:DOID:12351); von Willebrand's disease (Disease Ontology:DOID:12531); endomyocardial fibrosis (Disease Ontology:DOID:12932); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); Behcet's disease (Disease Ontology:DOID:13241); familial combined hyperlipidemia (Disease Ontology:DOID:13809); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); alcohol use disorder (Disease Ontology:DOID:1574); aortic valve stenosis (Disease Ontology:DOID:1712); Bernard-Soulier syndrome (Disease Ontology:DOID:2217); essential thrombocythemia (Disease Ontology:DOID:2224); transient cerebral ischemia (Disease Ontology:DOID:224); bipolar disorder (Disease Ontology:DOID:3312); carotid artery disease (Disease Ontology:DOID:3407); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); mesangial proliferative glomerulonephritis (Disease Ontology:DOID:4783); alcoholic pancreatitis (Disease Ontology:DOID:4988); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7450); (R-HSA-114608); (R-HSA-216083); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-430116); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-75892); (R-HSA-76009); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9672391); (R-HSA-9672393); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9769743); (R-HSA-9845619); (R-HSA-9845620); (R-HSA-9845621); (R-HSA-9845622); (R-HSA-9846298)", "pathway_count": 26, "publication_count": 444, "publication_id_list": "10.1021/acs.analchem.6b02887;10026158;10209034;10209122;10366422;10409742;10438935;10446041;10543983;10593924;10605720;10627461;10640428;10673366;10713152;10725339;10777559;10811134;10887119;10887121;10891492;10896934;10910910;10961880;10964917;10982388;11035113;11158588;11237011;11238108;11325826;11342438;11476890;11518510;11572855;11698279;11700320;11713259;11802164;11802165;11833835;11940607;11943772;11980922;12005431;12052963;12068308;12181489;12406074;12473660;12479806;12496264;12585966;12640026;12665801;12682293;12807887;12832465;12855811;12871266;12907439;12969981;1409710;1419803;1419804;1420817;1429668;1435334;14521605;14630798;14636584;14754902;14760718;14970219;14982929;15035987;15118098;15126318;15157149;15239952;15240572;15260967;15297306;15330449;15334074;15345499;15383545;15469846;15471879;15520807;15543157;15547943;15606553;15630448;15705787;15713743;15755288;1577715;1588291;15899827;16002701;16005629;16040750;16051604;16076873;16102041;16102042;16115959;16135787;16161994;1618828;16239428;16364920;16508002;16581250;16619025;16702958;1672694;1673047;16731529;16754661;16757337;16879721;16919435;16933105;16959974;17018604;17145850;17178906;17190853;17218263;1722201;1729889;17339034;17496912;17506785;17563371;17598008;17603482;17603483;1761120;17624957;17635713;17968485;17975018;18287029;1832934;18434644;1851341;18559533;18562239;18710925;1872845;1874730;18775695;18974108;1902833;1906179;19091303;19139490;19159218;19219045;19240027;19242111;19279408;19297154;1930190;1939645;19467855;19502598;19687512;1973901;1988024;19933846;20004170;20033473;20052757;2010538;2010539;2010551;2011604;20130576;20141835;20179705;2019570;20335223;2040636;20418283;20427285;2052556;20526349;20705068;20818844;20858867;2104766;2104832;2109644;2110473;21107323;21107324;21424530;21514245;21592258;21639808;21779496;21784453;21909383;21932952;21993244;22043453;22113612;22144186;22177953;22292133;22356324;22395615;2248955;22510884;22539938;22569528;22589270;22618708;22652793;2271516;22745804;22786881;22826437;22849435;22884367;22961984;23006890;23021219;23090970;23171796;23288408;23345538;23352452;23374253;23453624;23583981;23614898;23621622;23640497;23667175;23680146;23683607;2384594;23875798;23934108;24121058;24135138;24202393;24345920;24397554;24554904;24651010;24714562;24746704;24937142;24957944;2502206;2505252;25195011;25204415;25313996;2535488;2538457;25435214;25713144;2584182;25855704;25907612;26154972;26214590;26374642;26473492;26773038;26784534;2704749;271951;27227380;27397612;27554083;27726376;2786201;27862975;28035807;2828057;2864688;28832583;28939558;29223926;29391424;29419409;29437578;29467321;29557506;29671580;29731959;29741879;29786170;29789417;30034615;3017409;3019665;30375453;30386613;30429286;30459171;3052293;30794926;3082357;3089784;30918026;31003762;31154438;31262782;3129422;3134349;31439947;3155520;31556206;31848261;32157095;32387766;32619411;3275472;3287375;32983136;33592498;33912179;3488076;3489923;3495266;3496594;3502076;35051231;3524673;3527261;35580925;36284347;36951953;37074911;3733688;3744129;37726033;37925034;37938771;38155969;38320121;3863104;38640438;3872140;38723202;3873280;3874428;3875078;6323392;6334516;6438527;6457647;6980899;7499257;7505120;7513017;7517401;7525578;7541634;7542249;7559467;7565670;7565795;7620154;7685013;7727775;7731720;7734373;7756647;7789955;7929275;7935411;7935795;7989040;7997267;8011991;8034572;8051079;8052958;8088787;8118028;8123843;8123844;8144529;8148489;8157000;8338946;8338947;8344274;8348943;8376405;8384898;8435341;8467233;8486782;8547152;8560266;8578528;8598903;8621540;8622978;8626656;8631758;8631894;8639673;8639781;8649368;8755247;8798654;8838667;8839833;8910476;9020159;9218428;9218519;9251239;9280292;9312128;9331419;9351824;9373253;9425086;9443892;9459334;9469622;9553097;9565552;9566877;9607108;9733512;9774404;9834200;9858236;9858547;9888880", "class_list": "", "function": "A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels., [RefSeq, PubMed]; Complement C1q and von Willebrand factor interaction in atherosclerosis of human carotid artery. Publication Status: Online-Only, [RefSeq, PubMed]; Important in the maintenance of hemostasis, it promotes adhesion of platelets to the sites of vascular injury by forming a molecular bridge between sub-endothelial collagen matrix and platelet-surface receptor complex GPIb-IX-V. Also acts as a chaperone for coagulation factor VIII, delivering it to the site of injury, stabilizing its heterodimeric structure and protecting it from premature clearance from plasma., [UniProtKB]; Improving our understanding on the clinical role of plasmin-mediated von Willebrand factor degradation. Review article, [RefSeq, PubMed]; O-glycan determinants regulate VWF trafficking to Weibel-Palade bodies., [RefSeq, PubMed]; This gene encodes a glycoprotein involved in hemostasis. The encoded preproprotein is proteolytically processed following assembly into large multimeric complexes. These complexes function in the adhesion of platelets to sites of vascular injury and the transport of various proteins in the blood. Mutations in this gene result in von Willebrand disease, an inherited bleeding disorder. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 14, "mined_n_glycosites": 4, "mined_o_glycosites": 10, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 16, "reported_o_glycosites": 9, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 15, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 18, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 18, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 38, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 161, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; predictive", "glycan_count": 203, "disease_count": 39, "glyco_site_count": 32, "binding_glycan_count": 0, "secondary_ac_list": "Q8TCE8;Q99806", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0005178 integrin binding;GO:0042802 identical protein binding;GO:0051087 protein-folding chaperone binding;GO:0005518 collagen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0031012 extracellular matrix;GO:0031093 platelet alpha granule lumen", "go_biological_process": "GO:0007155 cell adhesion;GO:0007596 blood coagulation;GO:0009611 response to wounding;GO:0030168 platelet activation;GO:0007599 hemostasis", "synthesized_glycan_count": 0, "hit_score": 67.9, "record_id": "P04275-1", "record_type": "protein", "filter_code": "0110000.1100111.001000.000000000001000000.1100110011000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17031-1", "uniprot_id": [ { "id": "ZNF26_HUMAN", "url": "https://www.uniprot.org/uniprot/P17031", "type": "external" } ], "mass": 61282.0, "length": 533, "protein_name": "Zinc finger protein 26", "gene_name": "ZNF26", "organism": "Human", "refseq_name": "zinc finger protein 26 isoform 2", "refseq_ac": [ { "id": "NP_062537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062537", "type": "external" } ], "gene_names_uniprotkb": "ZNF26; KOX20", "gene_names_refseq": "HEL-179; KOX20; ZNF26", "protein_names_uniprotkb": "Zinc finger protein 26; Zinc finger protein KOX20", "protein_names_refseq": "epididymis luminal protein 179; zinc finger protein 26 isoform 2; zinc finger protein KOX20", "tax_id": 9606, "disease": "", "pathway": " (hsa:7574); (R-HSA-212436)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;2288909;25576301;25892735;26375851;28218747;28228285;28832583;28834231;28904123;29242379;29632711;29769354;30315122;30429286;31844290;31848261;32357974;32938616;33717175;33912179;33936100;33968037;35051231;35251023;35580925;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q86X57;Q9NWL3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P17031-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19397-1", "uniprot_id": [ { "id": "CD53_HUMAN", "url": "https://www.uniprot.org/uniprot/P19397", "type": "external" } ], "mass": 24341.0, "length": 219, "protein_name": "Leukocyte surface antigen CD53", "gene_name": "CD53", "organism": "Human", "refseq_name": "leukocyte surface antigen CD53 isoform 1", "refseq_ac": [ { "id": "NP_000551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000551", "type": "external" } ], "gene_names_uniprotkb": "CD53; MOX44; TSPAN25", "gene_names_refseq": "CD53; MOX44; TSPAN25", "protein_names_uniprotkb": "Leukocyte surface antigen CD53; Cell surface glycoprotein CD53; Tetraspanin-25; Tspan-25", "protein_names_refseq": "CD53 antigen; CD53 glycoprotein; CD53 tetraspan antigen; antigen MOX44 identified by monoclonal antibody MRC-OX44; cell surface antigen; cell surface glycoprotein CD53; leukocyte surface antigen CD53 isoform 1; leukocyte surface antigen CD53; tetraspanin-25; transmembrane glycoprotein; tspan-25", "tax_id": 9606, "disease": "", "pathway": " (hsa:963); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "1700763;18446792;21930792;22424782;22544926;2258620;23481700;23650620;24190977;24715725;25502872;25576301;25892735;26154972;26992070;27862975;27920218;28218747;28228285;28487417;28832583;28834231;28904123;29242379;29314611;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;31154438;31217245;31844290;32350084;32357974;32387766;32440787;32488085;32502341;32897882;32974937;32983136;33091337;33141586;33298915;33392160;33912179;33936100;33968037;34185709;34357683;34509645;34932366;35051231;35154160;35251023;35561310;35580925;35767951;36284347;37074911;37938771;39159818;8335905;8692836", "class_list": "", "function": "Open conformation of tetraspanins shapes interaction partner networks on cell membranes., [RefSeq, PubMed]; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling (PubMed:28487417). Participates thereby in diverse biological functions such as cell signal transduction, adhesion, migration and protein trafficking (PubMed:32974937, PubMed:35767951). Plays a role in the activation of monocytes and B-cells (PubMed:8335905). Acts as an essential regulator of B-cell development by promoting interleukin-7 receptor/IL7R signaling (By similarity). Also promotes, in B-cells, the BCR signaling by recruiting PKC to the plasma membrane in order to phosphorylate its substrates (PubMed:28487417). Plays an essential role in B- and T-cells homing to lymph nodes by stabilizing L-selectin/SELL cell surface expression (By similarity). Also mediates metabolic and inflammatory functions in hepatocytes and adipose tissue by promoting TNF and LPS signaling independent of the immune compartment (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Tetraspanin CD53: an overlooked regulator of immune cell function. Review article, [RefSeq, PubMed]; The conformation of tetraspanins CD53 and CD81 differentially affects their nanoscale organization and interaction with their partners., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. It contributes to the transduction of CD2-generated signals in T cells and natural killer cells and has been suggested to play a role in growth regulation. Familial deficiency of this gene has been linked to an immunodeficiency associated with recurrent infectious diseases caused by bacteria, fungi and viruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 9474, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R905;Q5U0D6", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0035579 specific granule membrane;GO:0045202 synapse;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction;GO:1901741 positive regulation of myoblast fusion;GO:0043113 receptor clustering", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "P19397-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54886-1", "uniprot_id": [ { "id": "P5CS_HUMAN", "url": "https://www.uniprot.org/uniprot/P54886", "type": "external" } ], "mass": 87302.0, "length": 795, "protein_name": "Delta-1-pyrroline-5-carboxylate synthase", "gene_name": "ALDH18A1", "organism": "Human", "refseq_name": "delta-1-pyrroline-5-carboxylate synthase isoform 2", "refseq_ac": [ { "id": "NP_001017423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017423", "type": "external" } ], "gene_names_uniprotkb": "ALDH18A1; GSAS; P5CS; PYCS", "gene_names_refseq": "ADCL3; ALDH18A1; ARCL3A; GSAS; P5CS; PYCS; SPG9A; SPG9B; SPG9", "protein_names_uniprotkb": "Delta-1-pyrroline-5-carboxylate synthase; Aldehyde dehydrogenase family 18 member A1; Gamma-glutamyl kinase; Glutamate-5-semialdehyde dehydrogenase; Glutamyl-gamma-semialdehyde dehydrogenase; P5CS", "protein_names_refseq": "Spastic paraplegia-9 (spastic paraparesis with amyotrophy, cataracts and gastroesophageal reflux); aldehyde dehydrogenase family 18 member A1; delta-1-pyrroline-5-carboxylate synthase isoform 2; delta-1-pyrroline-5-carboxylate synthase; delta-1-pyrroline-5-carboxylate synthetase; delta1-pyrroline-5-carboxlate synthetase; pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase); spastic paraplegia 9 (autosomal dominant)", "tax_id": 9606, "disease": "autosomal dominant cutis laxa 3 (Disease Ontology:DOID:0070131); autosomal recessive cutis laxa type IIIA (Disease Ontology:DOID:0070132); autosomal recessive cutis laxa type III (Disease Ontology:DOID:0070143); hereditary spastic paraplegia 9A (Disease Ontology:DOID:0110824); hereditary spastic paraplegia 9B (Disease Ontology:DOID:0110825); enterocele (Disease Ontology:DOID:1283); hereditary spastic paraplegia (Disease Ontology:DOID:2476); cataract (Disease Ontology:DOID:83); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:5832); (R-HSA-9837999)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;10037775;11092761;11923310;12198491;14623864;14654843;15522782;15870080;16115876;17101804;17297443;17579211;18478038;19841671;20068231;22170564;22262461;22710082;23201127;23301498;23931759;24315374;24520911;24715725;24767728;25418920;25892735;26026163;26154972;26297558;26320891;26504172;26923599;26992070;27496948;27642048;28377575;28396416;28510447;28904123;29301859;29493099;29557506;29932645;30120231;30315122;30397120;31327635;31530632;31695197;31844290;32119511;32157095;32265295;32357974;32387766;32502341;32770108;32870666;32938616;32983136;33141586;33257573;33298915;33392160;33573605;33592498;33912179;33936100;33968037;34171305;34211107;34357683;34704252;34725712;34932366;34943861;35051231;35083852;35580925;35870450;36067040;36241641;36629048;37119015;38665916;39506109;7623837;8761662", "class_list": "", "function": "Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism., [RefSeq, PubMed]; SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Q4;B7Z350;B7Z5X8;B7ZLP1;D3DR44;O95952;Q3KQU2;Q5T566;Q5T567;Q9UM72", "ec_number_list": [ { "id": "1.2.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.41", "type": "external" }, { "id": "2.7.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.11", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0004349 glutamate 5-kinase activity;GO:0004350 glutamate-5-semialdehyde dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0019240 citrulline biosynthetic process;GO:0006536 glutamate metabolic process;GO:0009266 response to temperature stimulus;GO:0055129 L-proline biosynthetic process;GO:0006592 ornithine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P54886-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34931-1", "uniprot_id": [ { "id": "HS71L_HUMAN", "url": "https://www.uniprot.org/uniprot/P34931", "type": "external" } ], "mass": 70375.0, "length": 641, "protein_name": "Heat shock 70 kDa protein 1-like", "gene_name": "HSPA1L", "organism": "Human", "refseq_name": "heat shock 70 kDa protein 1-like", "refseq_ac": [ { "id": "NP_005518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005518", "type": "external" } ], "gene_names_uniprotkb": "HSPA1L", "gene_names_refseq": "HSP70-1L; HSP70-HOM; HSP70T; HSPA1L; hum70t", "protein_names_uniprotkb": "Heat shock 70 kDa protein 1-like; HSP70-Hom; Heat shock 70 kDa protein 1-Hom; Heat shock 70 kDa protein 1L; Heat shock protein family A member 1L", "protein_names_refseq": "epididymis secretory sperm binding protein; heat shock 10kDa protein 1-like; heat shock 70 kDa protein 1-Hom; heat shock 70 kDa protein 1-like; heat shock 70 kDa protein 1L; heat shock 70kD protein-like 1; heat shock 70kDa protein 1-like; heat shock protein family A member 1L", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); pneumoconiosis (Disease Ontology:DOID:10316); uveitis (Disease Ontology:DOID:13141); Kawasaki disease (Disease Ontology:DOID:13378); major depressive disorder (Disease Ontology:DOID:1470); schizophrenia (Disease Ontology:DOID:5419); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:3305); (R-HSA-3371453); (R-HSA-3371497); (R-HSA-3371568); (R-HSA-3371571); (R-HSA-9833482)", "pathway_count": 6, "publication_count": 310, "publication_id_list": "10082513;10348343;10400669;10620360;10626894;10648614;10747884;10848580;10866685;10954706;11096080;11134010;11152499;11156368;11238103;11238927;11278865;11313968;11337501;11350938;11438540;11447121;11500375;11583998;11589254;11701661;11747420;11751894;11781817;11909525;11939789;11985496;12231563;12397061;12781197;12853476;12882984;12917326;12974469;13486053;1356099;1373135;14585331;14656967;1493716;15159550;15229216;15270074;15299030;15364926;15381148;15591061;15737233;15752359;15760475;15802566;1586970;15907845;1607379;16179258;16179259;16278218;1628823;16373505;16403413;16431927;16600570;16717090;1695551;16982605;1700760;17079286;17196820;17216044;1754405;17591767;17804755;18096616;18215318;18235501;18235502;18243712;18254226;18452278;18550409;18635947;18835251;18957415;19229036;19229320;19359544;19416861;19710021;19733181;19748539;19804757;19838063;19914676;20006655;20038533;20068231;20072699;20395957;20519500;20685959;21072047;21123651;21158691;21183720;21294215;21376746;21518807;21636578;21700222;21796517;21937648;21978664;21994559;22011577;22121020;22214662;22266222;22299025;22318716;22433123;22465953;2247437;22541429;22735644;22768106;22791416;22898188;22940245;22986343;23084476;23229543;23328677;23349863;23732991;23783831;24012426;24270810;24347309;24397554;24623135;24659800;24694367;24753571;25505266;25645385;25653431;25848059;26073023;26154972;26203193;26313416;26375851;26414917;26432638;26446704;26488609;26716879;26817845;26824387;26865365;27208315;27269119;27423063;27452731;27462449;27600516;27663436;27920218;27974558;28069888;28083797;28167698;28218747;28228285;28281686;28301631;28514659;28657654;28755533;28765891;28832583;28834231;28855257;28871256;28919297;29170442;29175459;29231267;29242379;29314611;29331515;29348664;29393594;29394925;29395325;29440070;29501855;29508533;29557506;29632711;29741879;29769354;29774024;29786170;29789417;30174290;30197098;30315122;30397120;30484775;30524438;30770398;31031002;31110491;31141847;31217245;31611695;31731497;31826031;31844290;31848261;32016915;32093270;32157095;32162841;32320027;32387766;32448030;32488085;32544881;32716602;32801355;32897882;32938616;32982970;32983136;33091337;33392160;33691108;33742129;33808629;33911136;33968037;33981976;34174402;34429451;34509645;34561969;34796524;34932366;34974812;35051231;35154160;35251023;35318648;35561310;35580925;35685460;35947956;36010968;36241641;36345598;36712380;37127961;37217939;39395807;6645495;6891012;7491766;7515177;7545299;7565688;7585962;7693978;7737357;7903669;8157723;8282004;8455624;8560673;8576172;8576179;8661426;8721986;8810342;8910500;8946918;9034343;9079663;9222609;9305631;9442054;9464360;9464361;9499401;9521856;9528799;9649501;9667968;9685725;9687506;9737981;9819388;9873016;9920933", "class_list": "", "function": "A Vaspin-HSPA1L complex protects proximal tubular cells from organelle stress in diabetic kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; Analysis of the heat shock protein 70 (HSP70) genetic variants in nonsegmental vitiligo patients., [RefSeq, PubMed]; Expressions of HSPA1L and HSPA9 are associated with poor sperm quality of low-motility spermatozoa in fertile men., [RefSeq, PubMed]; Integrative genetic, genomic and transcriptomic analysis of heat shock protein and nuclear hormone receptor gene associations with spontaneous preterm birth. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365). Positive regulator of PRKN translocation to damaged mitochondria (PubMed:24270810)., [UniProtKB, PubMed, PubMed]; This gene encodes a 70kDa heat shock protein. In conjunction with other heat shock proteins, this protein stabilizes existing proteins against aggregation and mediates the folding of newly translated proteins in the cytosol and in organelles. The gene is located in the major histocompatibility complex class III region, in a cluster with two closely related genes which also encode isoforms of the 70kDa heat shock protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NNB0;B0UXW8;O75634;Q2HXR3;Q8NE72;Q96QC9;Q9UQM1", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0051082 unfolded protein binding;GO:0016887 ATP hydrolysis activity;GO:0031072 heat shock protein binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0042026 protein refolding;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 31.6, "record_id": "P34931-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54652-1", "uniprot_id": [ { "id": "HSP72_HUMAN", "url": "https://www.uniprot.org/uniprot/P54652", "type": "external" } ], "mass": 70021.0, "length": 639, "protein_name": "Heat shock-related 70 kDa protein 2", "gene_name": "HSPA2", "organism": "Human", "refseq_name": "heat shock-related 70 kDa protein 2", "refseq_ac": [ { "id": "NP_068814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068814", "type": "external" } ], "gene_names_uniprotkb": "HSPA2", "gene_names_refseq": "HSP70-2; HSP70-3; HSPA2", "protein_names_uniprotkb": "Heat shock-related 70 kDa protein 2; Heat shock 70 kDa protein 2; Heat shock protein family A member 2", "protein_names_refseq": "epididymis secretory sperm binding protein; heat shock 70kD protein 2; heat shock 70kDa protein 2; heat shock protein family A member 2; heat shock-related 70 kDa protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3306); (R-HSA-1221632); (R-HSA-3371453); (R-HSA-3371497); (R-HSA-3371568); (R-HSA-9833482)", "pathway_count": 6, "publication_count": 297, "publication_id_list": "10082513;10348343;10400669;10620360;10626894;10648614;10747884;10848580;10866685;10954706;11096080;11134010;11152499;11156368;11238103;11238927;11278865;11313968;11337501;11350938;11438540;11500375;11583998;11589254;11673449;11701661;11747420;11751894;11781817;11909525;11939789;11985496;12231563;12397061;12781197;12853476;12882984;12917326;12974469;13486053;1373135;14585331;1493716;15125634;15159550;15229216;15235794;15299030;15364926;15381148;15591061;15737233;15752359;15802566;1586970;15907845;1607379;16179258;16179259;16278218;1628823;16373505;16403413;16408927;16431927;16600570;16717090;1695551;16982605;17079286;17196820;1754405;17591767;17804755;18096616;18215318;18235501;18235502;18243712;18254226;18369606;18529014;18550409;18635947;18835251;18957415;19146767;19229036;19229320;19359544;19416861;19710021;19733181;19804757;19838063;19914676;20006655;20038533;20068231;20072699;20305658;20395957;20519500;20634189;20685959;21072047;21123651;21158691;21183720;21294215;21376746;21518807;21636578;21700222;21796517;21937648;21978664;21994559;22011577;22121020;22214662;22266222;22318716;22424782;22433123;22465953;2247437;22541429;22735644;22791416;22869377;22940245;22986343;23084476;23229543;23349863;23732991;23921388;24012426;24190977;24347309;24623135;24659800;24694367;24753571;25645385;25653431;25848059;26073023;26154972;26203193;26313416;26375851;26432638;26446704;26488609;26716879;26768311;26817845;26865365;26992070;27208315;27269119;27397612;27423063;27452731;27462449;27600516;27663436;27920218;27974558;28063628;28069888;28083797;28167698;28218747;28228285;28281686;28301631;28514659;28755533;28765891;28832583;28834231;28904123;28919297;29170442;29175459;29231267;29242379;29314611;29348664;29393594;29394925;29395325;29440070;29501855;29508533;29557506;29632046;29632711;29786170;30174290;30197098;30315122;30397120;30410026;30484775;30524438;30626607;30770398;31031002;31110491;31141847;31217245;31731497;31826031;31844290;31848261;32016915;32093270;32161166;32320027;32387766;32448030;32544881;32716602;32801355;32982970;33091337;33298915;33392160;33808629;33911136;33912179;34019948;34174402;34357683;34974812;35051231;35649069;35685460;35947956;36240223;36241641;36246562;36581221;36712380;37127961;37217939;37938771;38253038;38641179;38665916;40596516;6645495;6891012;7491766;7515177;7545299;7565688;7585962;7693978;7737357;7829106;7849706;7903669;8157723;8282004;8560673;8576172;8576179;8661426;8721986;8794855;8810342;8910500;8946918;9008167;9034343;9079663;9222609;9285814;9305631;9442054;9464360;9464361;9499401;9521856;9528799;9649501;9667968;9687506;9737981;9819388;9873016;9920933", "class_list": "", "function": "HSPA1A, HSPA2, and HSPA8 Are Potential Molecular Biomarkers for Prognosis among HSP70 Family in Alzheimer's Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release (PubMed:26865365). Plays a role in spermatogenesis. In association with SHCBP1L may participate in the maintenance of spindle integrity during meiosis in male germ cells (By similarity)., [UniProtKB, PubMed, UniProtKB]; The human testis-enriched HSPA2 interacts with HIF-1alpha in epidermal keratinocytes, yet HIF-1alpha stability and HIF-1-dependent gene expression rely on the HSPA (HSP70) activity., [RefSeq, PubMed]; Tumorigenic and immunological roles of Heat shock protein A2 in pancreatic cancer: a bioinformatics analysis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q15508;Q53XM3;Q9UE78", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0036128 CatSper complex;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0090084 negative regulation of inclusion body assembly;GO:0007283 spermatogenesis;GO:0009409 response to cold;GO:0007286 spermatid development;GO:0007140 male meiotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 30.2, "record_id": "P54652-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVG8-1", "uniprot_id": [ { "id": "TBC13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVG8", "type": "external" } ], "mass": 46554.0, "length": 400, "protein_name": "TBC1 domain family member 13", "gene_name": "TBC1D13", "organism": "Human", "refseq_name": "TBC1 domain family member 13 isoform b", "refseq_ac": [ { "id": "NP_001273701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273701", "type": "external" } ], "gene_names_uniprotkb": "TBC1D13", "gene_names_refseq": "TBC1D13", "protein_names_uniprotkb": "TBC1 domain family member 13", "protein_names_refseq": "TBC1 domain family member 13 isoform b; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54662); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10202141;16055087;16395330;17658474;17901050;17924679;18199687;18319245;18466115;19077034;20095038;20116244;20363736;20404108;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23301498;23481700;23562278;23783831;24715725;25645385;26154972;26375851;26992070;27600516;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632711;30315122;30379171;30429286;31844290;32157095;32387766;32488085;32938616;32983136;33141586;33298915;33392160;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34229054;34357683;34509645;34932366;35051231;35251023;35580925;36010968;36215666", "class_list": "", "function": "Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7E2E7;B3KW04;B9EGJ8;Q5T270;Q5T271", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9NVG8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01258-1", "uniprot_id": [ { "id": "CALC_HUMAN", "url": "https://www.uniprot.org/uniprot/P01258", "type": "external" } ], "mass": 15467.0, "length": 141, "protein_name": "Calcitonin", "gene_name": "CALCA", "organism": "Human", "refseq_name": "calcitonin isoform CT preproprotein", "refseq_ac": [ { "id": "NP_001029124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029124", "type": "external" } ], "gene_names_uniprotkb": "CALCA; CALC1", "gene_names_refseq": "CALC1; CALCA; CGRP-I; CGRP-alpha; CGRP1; CGRP; CT; KC; PCT", "protein_names_uniprotkb": "Calcitonin; CCP; Calcitonin carboxyl-terminal peptide; PDN-21", "protein_names_refseq": "alpha-type CGRP; calcitonin 1; calcitonin gene-related peptide 1; calcitonin gene-related peptide I; calcitonin isoform CT preproprotein; calcitonin/calcitonin-related polypeptide, alpha; katacalcin", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); pyelonephritis (Disease Ontology:DOID:11400); osteoporosis (Disease Ontology:DOID:11476); prediabetes syndrome (Disease Ontology:DOID:11716); ischemia (Disease Ontology:DOID:326); middle cerebral artery infarction (Disease Ontology:DOID:3525); migraine (Disease Ontology:DOID:6364); stomach disease (Disease Ontology:DOID:76); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:796); (R-HSA-418555); (R-HSA-419812); (R-HSA-977225)", "pathway_count": 4, "publication_count": 176, "publication_id_list": "10.1038/emboj.2013.79;10097139;10217420;10319874;10391242;10411933;10583407;10956649;11007482;11278841;11401442;11467836;11590439;11693189;118839;12036966;12058044;12106601;12180353;12454989;1270801;12860470;1318039;1331173;13549488;14506261;14567678;14615490;14671004;14722252;14759258;15064394;1517224;15765929;15769620;15951850;15962837;16174740;16313925;16687412;16799559;16923326;17168849;17425515;1761559;17665333;18044684;18065497;18070888;1837051;18449172;18484335;1849145;18577758;18603306;19011241;19105585;19658395;19828817;19876791;1988044;19929708;2001366;20381629;2039456;20573757;20676056;20807650;21036126;2118650;2163110;2177866;2195544;22065755;22131221;23153230;23584533;23719902;23813966;2408883;2409350;24169554;2417744;24687066;24833601;24893886;2491850;25297013;25523424;2553411;2553705;2571128;26018760;2608057;26417681;26417854;26432182;26559125;26668317;26686862;26807092;279930;2871555;2900981;29171818;29255900;29443750;29557506;29602314;2985435;3034287;3035556;30504837;3053705;3080684;30833991;3094007;3127824;31279028;31311674;31399091;3142462;31556018;31800988;31983287;32145209;32226383;32266704;32497535;32505227;32540603;32589600;32618402;32636324;32715661;32766546;32851644;33049737;33602864;3485540;3492492;35324283;35580925;3675579;37938771;38603770;38627623;3872459;38750917;5760861;6085243;6132180;6148938;6546550;6609312;6610687;8033412;8097946;8114934;8159701;8340388;8387282;8464497;8490014;8514797;8626685;8672451;8870004;9006323;9054935;9212325;9263355;9417641;9620797;9651336;9862427", "class_list": "", "function": "CGRP displays antimicrobial activity against S. mutans, L. acidophilus, E. faecalis, E. coli, P. aeruginosa, and C. albicans., [RefSeq, PubMed]; CGRP1/CALCA is a peptide hormone that induces vasodilation mediated by the CALCRL-RAMP1 receptor complex (PubMed:1318039, PubMed:33602864, PubMed:9620797). Dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role (PubMed:3492492). It also elevates platelet cAMP (PubMed:1318039). CGRP1 can also bind and activate CALCR-RAMP1 (AMYR1) receptor complex (PubMed:38603770)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Calcitonin gene-related peptide: a possible biomarker in migraine patients with patent foramen ovale. Publication Status: Online-Only, [RefSeq, PubMed]; Calcitonin is a peptide hormone that causes a rapid but short-lived drop in the level of calcium and phosphate in blood by promoting the incorporation of those ions in the bones. Calcitonin function is mediated by the calcitonin receptor/CALCR and the CALCR-RAMP2 (AMYR2) receptor complex (PubMed:35324283)., [UniProtKB, PubMed]; Katacalcin is a potent plasma calcium-lowering peptide., [UniProtKB, PubMed]; Sensory neurons increase keratinocyte proliferation through CGRP release in a tissue engineered in vitro model of innervation in psoriasis., [RefSeq, PubMed]; This gene encodes the peptide hormones calcitonin, calcitonin gene-related peptide and katacalcin by tissue-specific alternative RNA splicing of the gene transcripts and cleavage of inactive precursor proteins. Calcitonin is involved in calcium regulation and acts to regulate phosphorus metabolism. Calcitonin gene-related peptide functions as a vasodilator and as an antimicrobial peptide while katacalcin is a calcium-lowering peptide. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL39;Q13935;Q13937;Q52LX7", "ec_number_list": [], "go_molecular_function": "GO:0031716 calcitonin receptor binding;GO:0042802 identical protein binding;GO:0005179 hormone activity;GO:0005102 signaling receptor binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030424 axon;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:1990090 cellular response to nerve growth factor stimulus;GO:0042311 vasodilation;GO:0045776 negative regulation of blood pressure", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "P01258-1", "record_type": "protein", "filter_code": "0100000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y608-1", "uniprot_id": [ { "id": "LRRF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y608", "type": "external" } ], "mass": 82171.0, "length": 721, "protein_name": "Leucine-rich repeat flightless-interacting protein 2", "gene_name": "LRRFIP2", "organism": "Human", "refseq_name": "leucine-rich repeat flightless-interacting protein 2 isoform k", "refseq_ac": [ { "id": "NP_001127841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127841", "type": "external" } ], "gene_names_uniprotkb": "LRRFIP2", "gene_names_refseq": "HUFI-2; LRRFIP2", "protein_names_uniprotkb": "Leucine-rich repeat flightless-interacting protein 2; LRR FLII-interacting protein 2", "protein_names_refseq": "LRR FLII-interacting protein 2; leucine rich repeat (in FLII) interacting protein 2; leucine-rich repeat flightless-interacting protein 2 isoform k; leucine-rich repeat flightless-interacting protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9209)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;10366446;11237011;15677333;17081983;17693683;18220336;18452278;18669648;19265123;19367720;19413330;19651622;19664995;19690332;20068231;20166139;21220426;21406692;21785361;22544926;23186163;23481700;24275569;25645385;26375851;26992070;27431477;27600516;27920218;28228285;28832583;29242379;29331515;29557506;30379171;30429286;31844290;32157095;32387766;32488085;32502341;32938616;33141586;33912179;33968037;33981976;34087483;35051231;35251023;35494241;35580925;36010968;36215666;37938771;40596516", "class_list": "", "function": "A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families, [RefSeq, PubMed]; Data show that the ability of Ca(2+) to accentuate the activity of NLRP3 inflammasome is abrogated in Flightless-I (FliI) and leucine-rich repeat FliI-interaction protein 2 (LRRFIP2)-knockdown macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; LRR-binding MyD88 interactor LRRFIP2 is a positive regulator of NF-kappa B activity and is also a positive regulator of cytokine production in lipopolysaccharide-stimulated macrophages, suggesting a functional role in TLR4-mediated inflammatory response., [RefSeq, PubMed]; May function as activator of the canonical Wnt signaling pathway, in association with DVL3, upstream of CTNNB1/beta-catenin. Positively regulates Toll-like receptor (TLR) signaling in response to agonist probably by competing with the negative FLII regulator for MYD88-binding., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene, along with MYD88, binds to the cytosolic tail of toll-like receptor 4 (TLR4), which results in activation of nuclear factor kappa B signaling. The ubiquitin-like protein FAT10 prevents the interaction of the encoded protein and TLR4, thereby inactivating the nuclear factor kappa B signaling pathway. In addition, this protein can downregulate the NLRP3 inflammasome by recruiting the caspase-1 inhibitor Flightless-I to the inflammasome complex. [provided by RefSeq, Jan 2017]., [RefSeq]; These data suggest that LRRFIP2 plays an important role in transducing Wnt signals., [RefSeq, PubMed]; Unambiguous characterization of site-specific phosphorylation of leucine-rich repeat Fli-I-interacting protein 2 (LRRFIP2) in Toll-like receptor 4 (TLR4)-mediated signaling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K649;A8MXR0;B4DY63;Q68CV3;Q9NXH5", "ec_number_list": [], "go_molecular_function": "GO:0030275 LRR domain binding", "go_cellular_component": "", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0016055 Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9Y608-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE56-1", "uniprot_id": [ { "id": "ATS17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE56", "type": "external" } ], "mass": 121127.0, "length": 1095, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 17", "gene_name": "ADAMTS17", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 17 preproprotein", "refseq_ac": [ { "id": "NP_620688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620688", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS17", "gene_names_refseq": "ADAMTS17; WMS4", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 17; 3.4.24.-; ADAM-TS 17; ADAM-TS17; ADAMTS-17", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 17 preproprotein; a disintegrin and metalloproteinase with thrombospondin motifs 17; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17", "tax_id": 9606, "disease": "Weill-Marchesani syndrome (Disease Ontology:DOID:0050475); Weill-Marchesani syndrome 4 (Disease Ontology:DOID:0061276)", "pathway": " (hsa:170691); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;11067851;11237011;11867212;16464858;18720094;19266077;19796186;19836009;22486325;22588082;23481700;23889335;24940034;25544610;28176809;28218747;29437277;30379171;31726086;32157095;32616716;34171305;35051231;36810712;36966180;37506754", "class_list": "", "function": "A common variant rs2054564 in ADAMST17 is associated with susceptibility to lumbar spondylosis. Publication Status: Online-Only, [RefSeq, PubMed]; A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix., [RefSeq, PubMed]; A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features. Publication Status: Online-Only, [RefSeq, PubMed]; Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome., [RefSeq, PubMed]; Extracellular metalloprotease that regulates skeletal development by modulating BMP-SMAD signaling and extracellular matrix microfibril organization, which controls chondrocyte differentiation and bone growth., [UniProtKB, UniProtKB]; Homozygous mutation in ADAMTS17 causes lenticular myopia, ectopia lentis, glaucoma, spheropakia, and short stature., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The role of ADAMTS6 and ADAMTS17 polymorphisms in susceptibility to lumbar disc herniation in Chinese Han population., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q2I7G4;Q6ZN75", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8TE56-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4VNC0-1", "uniprot_id": [ { "id": "AT135_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4VNC0", "type": "external" } ], "mass": 137327.0, "length": 1218, "protein_name": "Probable cation-transporting ATPase 13A5", "gene_name": "ATP13A5", "organism": "Human", "refseq_name": "probable cation-transporting ATPase 13A5", "refseq_ac": [ { "id": "NP_940907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940907", "type": "external" } ], "gene_names_uniprotkb": "ATP13A5; PRO1004", "gene_names_refseq": "ATP13A5", "protein_names_uniprotkb": "Probable cation-transporting ATPase 13A5; 7.2.2.-; P5-ATPase isoform 5", "protein_names_refseq": "ATPase type 13A5; P5-ATPase; probable cation-transporting ATPase 13A5", "tax_id": 9606, "disease": "Kufor-Rakeb syndrome (Disease Ontology:DOID:0060556); juvenile-onset Parkinson's disease (Disease Ontology:DOID:0060893); Parkinson's disease (Disease Ontology:DOID:14330); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); hereditary spastic paraplegia (Disease Ontology:DOID:2476); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:344905); (R-HSA-936837)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;12975309;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19878721;2160952;22186024;23196729;24392018;24715725;26154972;26811146;27067231;27846572;29331515;29393594;29557506;29769354;30410026;31844290;32387766;32488085;35051231;36215666;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "This gene encodes a member of the P5 subfamily of P-type transport ATPases. P-type ATPases form a large superfamily of cation and lipid pumps that transport inorganic cations and other substrates across cell membranes. P5 ATPases are localized to membranes of the endoplasmic reticulum (ER) and serve many important functions including transport of cargo proteins to the Golgi, glycosylation and cell wall biosynthesis, control of protein insertion orientation, 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) degradation, and sensitivity to unfolded protein response (UPR) activators. The encoded protein is organized into three cytoplasmic domains (A, P, and N) and two membrane-embedded domains (T and S). The N-domain binds ATP and serves as a built-in protein kinase, which phosphorylates the P-domain. The A-domain is an intrinsic protein phosphatase, which dephosphorylates the P-domain once during each catalytic cycle. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWS4;Q6ZWL0", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0019829 ATPase-coupled monoatomic cation transmembrane transporter activity;GO:0015662 P-type ion transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031902 late endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0034220 monoatomic ion transmembrane transport;GO:1902047 polyamine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q4VNC0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWE2-1", "uniprot_id": [ { "id": "NXP20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWE2", "type": "external" } ], "mass": 60742.0, "length": 563, "protein_name": "Protein NOXP20", "gene_name": "FAM114A1", "organism": "Human", "refseq_name": "protein NOXP20 isoform 2", "refseq_ac": [ { "id": "NP_001317693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317693", "type": "external" } ], "gene_names_uniprotkb": "FAM114A1; NOXP20", "gene_names_refseq": "FAM114A1; Noxp20", "protein_names_uniprotkb": "Protein NOXP20; Nervous system overexpressed protein 20; Protein FAM114A1", "protein_names_refseq": "nervous system over-expressed protein 20; protein NOXP20 isoform 2; protein NOXP20", "tax_id": 9606, "disease": "", "pathway": " (hsa:92689)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;17029606;18669648;20068231;23301498;23481700;24275569;25576301;25645385;26312625;27846572;27862975;29508533;29557506;29786170;30379171;30429286;31154438;31844290;31848261;32157095;32387766;32488085;32897882;32938616;33141586;33592498;33968037;33981976;34171305;34185709;34211107;34405274;34509645;35051231;35318648;35580925;36010968;36284347;36580660;37938771;38665916", "class_list": "", "function": "May play a role in neuronal cell development., [UniProtKB]; Study annotated variants at 4p14 as expression quantitative trait loci (eQTL) associated with TLR6/10 and FAM114A1; findings suggest that 4p14 polymorphisms are linked to host immune response to H. pylori infection but not to its acquisition., [RefSeq, PubMed]; The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]., [RefSeq]; This paper discusses the structure of the human Noxp20 gene., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K9W6;Q6MZV4;Q9BVL6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q8IWE2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2Y5-1", "uniprot_id": [ { "id": "UVRAG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2Y5", "type": "external" } ], "mass": 78151.0, "length": 699, "protein_name": "UV radiation resistance-associated gene protein", "gene_name": "UVRAG", "organism": "Human", "refseq_name": "UV radiation resistance-associated gene protein isoform 2", "refseq_ac": [ { "id": "NP_003360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003360", "type": "external" } ], "gene_names_uniprotkb": "UVRAG", "gene_names_refseq": "DHTX; UVRAG; VPS38; p63", "protein_names_uniprotkb": "UV radiation resistance-associated gene protein; p63", "protein_names_refseq": "UV radiation resistance-associated gene protein isoform 2; UV radiation resistance-associated gene protein; beclin 1 binding protein; disrupted in heterotaxy", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:7405); (R-HSA-1632852); (R-HSA-9679504); (R-HSA-9694676); (R-HSA-9754560)", "pathway_count": 5, "publication_count": 107, "publication_id_list": "10798355;11096062;11237011;11825910;15187094;15331731;16799551;16963840;17618624;17891140;18321988;18439900;18552835;18669648;18691976;18843052;19050071;19211835;19270696;19322194;19369195;19590496;19690332;19855179;19898463;20059746;20068231;20643123;20713597;20921139;20974968;21177865;21205641;21258367;21383122;21460621;21799305;21819378;22170151;22354037;22493499;22542840;22682742;23186163;23202584;23685627;23727157;23878393;23884233;23954414;24056303;24550300;24747438;24954904;25135833;25484072;25533187;25568151;25892735;26139536;26811146;27911840;28306502;28467828;28832583;28904123;29242379;29393594;29557506;29769354;29786170;30686098;31217245;31231549;31844290;31937595;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33422265;33691108;33717175;33912179;33936100;33947832;33966045;33968037;34087483;34211107;34357683;34386498;34509645;34646380;35051231;35580925;36010968;36241641;36581221;38054642;7628435;9169138", "class_list": "", "function": "Involved in maintaining chromosomal stability. Promotes DNA double-strand break (DSB) repair by association with DNA-dependent protein kinase complex DNA-PK and activating it in non-homologous end joining (NHEJ) (PubMed:22542840). Required for centrosome stability and proper chromosome segregation (PubMed:22542840)., [UniProtKB, PubMed]; TNF-alpha-dependent neuronal necroptosis regulated in Alzheimer's disease by coordination of RIPK1-p62 complex with autophagic UVRAG. Publication Status: Online-Only, [RefSeq, PubMed]; This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left-right axis malformation and mutations in this gene have been associated with colon cancer. [provided by RefSeq, Jul 2008]., [RefSeq]; UVRAG: orchestrating the initiation of reticulophagy., [RefSeq, PubMed]; Versatile protein that is involved in regulation of different cellular pathways implicated in membrane trafficking. Involved in regulation of the COPI-dependent retrograde transport from Golgi and the endoplasmic reticulum by associating with the NRZ complex; the function is dependent on its binding to phosphatidylinositol 3-phosphate (PtdIns(3)P) (PubMed:16799551, PubMed:18552835, PubMed:20643123, PubMed:24056303, PubMed:28306502). During autophagy acts as a regulatory subunit of the alternative PI3K complex II (PI3KC3-C2) that mediates formation of phosphatidylinositol 3-phosphate and is believed to be involved in maturation of autophagosomes and endocytosis. Activates lipid kinase activity of PIK3C3 (PubMed:16799551, PubMed:20643123, PubMed:24056303, PubMed:28306502). Involved in the regulation of degradative endocytic trafficking and cytokinesis, and in regulation of ATG9A transport from the Golgi to the autophagosome; the functions seems to implicate its association with PI3KC3-C2 (PubMed:16799551, PubMed:20643123, PubMed:24056303). Involved in maturation of autophagosomes and degradative endocytic trafficking independently of BECN1 but depending on its association with a class C Vps complex (possibly the HOPS complex); the association is also proposed to promote autophagosome recruitment and activation of Rab7 and endosome-endosome fusion events (PubMed:18552835, PubMed:28306502). Enhances class C Vps complex (possibly HOPS complex) association with a SNARE complex and promotes fusogenic SNARE complex formation during late endocytic membrane fusion (PubMed:24550300). In case of negative-strand RNA virus infection is required for efficient virus entry, promotes endocytic transport of virions and is implicated in a VAMP8-specific fusogenic SNARE complex assembly (PubMed:24550300)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 11, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KTC1;O00392", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0000149 SNARE binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0071985 multivesicular body sorting pathway;GO:0097352 autophagosome maturation;GO:0097680 double-strand break repair via classical nonhomologous end joining;GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process;GO:0051684 maintenance of Golgi location", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9P2Y5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZG7-1", "uniprot_id": [ { "id": "NINJ2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZG7", "type": "external" } ], "mass": 15680.0, "length": 142, "protein_name": "Ninjurin-2", "gene_name": "NINJ2", "organism": "Human", "refseq_name": "ninjurin-2 isoform 2", "refseq_ac": [ { "id": "NP_001281274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001281274", "type": "external" } ], "gene_names_uniprotkb": "NINJ2", "gene_names_refseq": "NINJ2", "protein_names_uniprotkb": "Ninjurin-2; Nerve injury-induced protein 2", "protein_names_refseq": "nerve injury-induced protein 2; ninjurin-2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:4815)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10627596;11237011;19369658;20410525;20957003;23481700;25418920;25880248;26154972;26375851;26811146;27846572;27920218;28218747;28832583;28904123;29242379;31844290;32357974;33472215;33717175;33912179;34357683;35051231;35912872;36360183;38512812;38614101;39667936", "class_list": "", "function": "Effects of Ninjurin 2 polymorphisms on susceptibility to coronary heart disease., [RefSeq, PubMed]; Interdependency of NINJ2 gene expression and polymorphism with susceptibility and response to interferon beta in patients with multiple sclerosis., [RefSeq, PubMed]; Involvement of NINJ2 Protein in Inflammation and Blood-Brain Barrier Transmigration of Monocytes in Multiple Sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Its role in unclear (PubMed:33472215, PubMed:38614101, PubMed:39667936). In contrast to NINJ1 paralog, does not mediate plasma membrane rupture (cytolysis) downstream of necroptotic and pyroptotic programmed cell death (PubMed:33472215, PubMed:38614101, PubMed:39667936). While it is able to oligomerize and form filaments, filaments are curved toward the intracellular space, preventing circularization to mediate plasma membrane rupture (PubMed:39667936). May act as a homophilic transmembrane adhesion molecule involved in nerve regeneration (PubMed:10627596). Promotes axonal growth (PubMed:10627596)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene belongs to the ninjurin (for nerve injury induced) family. It is a cell surface adhesion protein that is upregulated in Schwann cells surrounding the distal segment of injured nerve, and promotes neurite outgrowth, thus may have a role in nerve regeneration after nerve injury. [provided by RefSeq, Oct 2011]., [RefSeq]; There is a significant association between rs11833579 site polymorphism of the NINJ2 gene and risk for stroke in Han Chinese. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0015485 cholesterol binding;GO:0098632 cell-cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0042246 tissue regeneration;GO:0007158 neuron cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9NZG7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92843-1", "uniprot_id": [ { "id": "B2CL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92843", "type": "external" } ], "mass": 20746.0, "length": 193, "protein_name": "Bcl-2-like protein 2", "gene_name": "BCL2L2-PABPN1; BCL2L2", "organism": "Human", "refseq_name": "bcl-2-like protein 2", "refseq_ac": [ { "id": "NP_001186768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186768", "type": "external" } ], "gene_names_uniprotkb": "BCL2L2-PABPN1; BCL2L2; BCLW; KIAA0271", "gene_names_refseq": "BCL-W; BCL2-L-2; BCL2L2; BCLW; PPP1R51", "protein_names_uniprotkb": "Bcl-2-like protein 2; Apoptosis regulator Bcl-W; Bcl2-L-2", "protein_names_refseq": "apoptosis regulator BCL-W; bcl-2-like protein 2; protein phosphatase 1, regulatory subunit 51", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); colorectal adenocarcinoma (Disease Ontology:DOID:0050861); Alzheimer's disease (Disease Ontology:DOID:10652); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); transient cerebral ischemia (Disease Ontology:DOID:224); multiple sclerosis (Disease Ontology:DOID:2377); Burkitt lymphoma (Disease Ontology:DOID:8584)", "pathway": " (hsa:599)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;11423909;12651847;12660157;12952938;24129315;26154972;28904123;30429286;31998317;32157095;32938616;33968037;34087483;35051231;35894779;36441929;37567974;8761287", "class_list": "", "function": "BCL-W makes only minor contributions to MYC-driven lymphoma development., [RefSeq, PubMed]; MiR-140 promotes the progression of intracranial aneurysms by targeting BCL2L2., [RefSeq, PubMed]; Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells., [RefSeq, PubMed]; Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K0F4;Q2M3U0;Q5U0H4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0015267 channel activity;GO:0097718 disordered domain specific binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0097136 Bcl-2 family protein complex;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage;GO:0001836 release of cytochrome c from mitochondria", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q92843-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99700-1", "uniprot_id": [ { "id": "ATX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99700", "type": "external" } ], "mass": 140283.0, "length": 1313, "protein_name": "Ataxin-2", "gene_name": "ATXN2", "organism": "Human", "refseq_name": "ataxin-2 isoform 3", "refseq_ac": [ { "id": "NP_001297052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001297052", "type": "external" } ], "gene_names_uniprotkb": "ATXN2; ATX2; SCA2; TNRC13", "gene_names_refseq": "ATX2; ATXN2; SCA2; TNRC13", "protein_names_uniprotkb": "Ataxin-2; Spinocerebellar ataxia type 2 protein; Trinucleotide repeat-containing gene 13 protein", "protein_names_refseq": "ataxin-2 isoform 3; spinocerebellar ataxia type 2 protein; trinucleotide repeat-containing gene 13 protein", "tax_id": 9606, "disease": "spinocerebellar ataxia 2 (Disease Ontology:DOID:0050955); late onset Parkinson's disease (Disease Ontology:DOID:0060892); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441)", "pathway": " (hsa:6311)", "pathway_count": 1, "publication_count": 112, "publication_id_list": "10814712;11237011;16835262;16964243;17081983;17287340;17322306;17924679;18220336;18452278;18602463;18669648;18767875;19413330;19651622;19664994;19664995;19690332;20058876;20068231;20305658;20740007;21406692;21740066;22424782;23186163;23209657;24129315;24275569;24715725;25576301;26992070;27846572;28604694;28657654;28832583;28904123;29237092;29242379;29351928;29493099;29557506;30059200;30315122;30379171;30397120;30620550;30784271;30833945;31092671;31154438;31217245;31373491;31492838;31530632;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34171305;34357683;34509645;34725712;34846842;34932366;35051231;35132862;35138101;35251023;35254053;35318648;35513511;35580925;36010968;36241641;36284347;37541260;37938771;38665916;38838015;38869059;39004246;39302247;39531497;39534244;39894887;40136647;8896555;8896556;8896557;9480749", "class_list": "", "function": "Abnormal open states patterns in the ATXN2 DNA sequence depends on the CAG repeats length., [RefSeq, PubMed]; Concerted action of ataxin-2 and PABPC1-bound mRNA poly(A) tail in the formation of stress granules., [RefSeq, PubMed]; Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane., [UniProtKB, PubMed]; This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 28, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 28, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 28, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 49, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 56, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 31, "binding_glycan_count": 0, "secondary_ac_list": "A6NLD4;Q24JQ7;Q6ZQZ7;Q99493", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006417 regulation of translation;GO:0002091 negative regulation of receptor internalization;GO:0016070 RNA metabolic process;GO:0033962 P-body assembly;GO:0034063 stress granule assembly", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q99700-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969Z0-1", "uniprot_id": [ { "id": "FAKD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969Z0", "type": "external" } ], "mass": 70738.0, "length": 631, "protein_name": "FAST kinase domain-containing protein 4", "gene_name": "TBRG4", "organism": "Human", "refseq_name": "FAST kinase domain-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_004740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004740", "type": "external" } ], "gene_names_uniprotkb": "TBRG4; CPR2; FASTKD4; KIAA0948", "gene_names_refseq": "CPR2; FASTKD4; TBRG4", "protein_names_uniprotkb": "FAST kinase domain-containing protein 4; Cell cycle progression protein 2; Cell cycle progression restoration protein 2; Protein TBRG4; Transforming growth factor beta regulator 4", "protein_names_refseq": "FAST kinase domain-containing protein 4 isoform 1; FAST kinase domain-containing protein 4; FAST kinase domains 4; H_TD2522F11.8; cell cycle progression protein 2; cell cycle progression restoration protein 2; protein TBRG4", "tax_id": 9606, "disease": "", "pathway": " (hsa:9238); (R-HSA-9837092)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12759187;16964243;18691976;19608861;20869947;22424782;23186163;23301498;24366607;24714562;24715725;24746820;25505266;25683715;26154972;26370583;26992070;27600516;27846572;27920218;28063628;28228285;28335001;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29632046;29731959;29769354;30315122;30379171;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34509645;34748562;34932366;35051231;35580925;36417478;38347489;40914422;9383053", "class_list": "", "function": "13 human CPR (cell cycle progression restoration) genes and 11 yeast OPY (overproduction-induced pheromone-resistant yeast) genes that specifically block the G1 arrest by mating pheromone., [RefSeq, PubMed]; High expression of TBRG4 in relation to unfavorable outcome and cell ferroptosis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial protein, TBRG4, modulates KSHV and EBV reactivation from latency. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in processing of mitochondrial RNA precursors and in stabilization of a subset of mature mitochondrial RNA species, such as MT-CO1, MT-CO2, MT-CYB, MT-CO3, MT-ND3, MT-ND5 and MT-ATP8/6. May play a role in cell cycle progression (PubMed:9383053)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The FASTK family proteins fine-tune mitochondrial RNA processing. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D2L2;A4D2L3;D3DVL5;D3DVL6;O14710;Q53GI8;Q8NDM4;Q9BUC6;Q9Y2F6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0035770 ribonucleoprotein granule", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0000963 mitochondrial RNA processing;GO:0008284 positive regulation of cell population proliferation;GO:0051726 regulation of cell cycle;GO:0044528 regulation of mitochondrial mRNA stability", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q969Z0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNK0-1", "uniprot_id": [ { "id": "STX8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNK0", "type": "external" } ], "mass": 26907.0, "length": 236, "protein_name": "Syntaxin-8", "gene_name": "STX8", "organism": "Human", "refseq_name": "syntaxin-8", "refseq_ac": [ { "id": "NP_004844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004844", "type": "external" } ], "gene_names_uniprotkb": "STX8", "gene_names_refseq": "CARB; STX8", "protein_names_uniprotkb": "Syntaxin-8", "protein_names_refseq": "CIP-1-associated regulator of cyclin B; syntaxin-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:9482)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10198254;11237011;18578522;25576301;25645385;26992070;28446606;28467828;28834231;29242379;29557506;30315122;31154438;31844290;32350084;32983136;33091337;33592498;33912179;34319403;34357683;34433824;34932366;35154160;35251023;35580925;9852078", "class_list": "", "function": "Smuggle tau through a secret(ory) pathway., [RefSeq, PubMed]; The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis-Golgi membranes to the ER., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60712;Q53XT8", "ec_number_list": [], "go_molecular_function": "GO:0019869 chloride channel inhibitor activity;GO:0031625 ubiquitin protein ligase binding;GO:0019905 syntaxin binding;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0045022 early endosome to late endosome transport;GO:1903076 regulation of protein localization to plasma membrane;GO:0006906 vesicle fusion;GO:0048278 vesicle docking", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9UNK0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0N9-1", "uniprot_id": [ { "id": "TBCD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0N9", "type": "external" } ], "mass": 33972.0, "length": 293, "protein_name": "TBC1 domain family member 7", "gene_name": "TBC1D7", "organism": "Human", "refseq_name": "TBC1 domain family member 7 isoform a", "refseq_ac": [ { "id": "NP_001137436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137436", "type": "external" } ], "gene_names_uniprotkb": "TBC1D7; HSPC239; TBC7", "gene_names_refseq": "MGCPH; PIG51; TBC1D7; TBC7", "protein_names_uniprotkb": "TBC1 domain family member 7; Cell migration-inducing protein 23", "protein_names_refseq": "TBC domain family 7; TBC1 domain family member 7 isoform a; TS complex subunit 3; Tre2-Bub2-Cdc16 Domain Family Member 7; cell migration-inducing protein 23", "tax_id": 9606, "disease": "macrocephaly/megalencephaly syndrome, autosomal recessive (MONDO:MONDO:0009544)", "pathway": " (hsa:107080638); (hsa:51256); (R-HSA-8854214)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10202141;11237011;16055087;16395330;17658474;17901050;18199687;18319245;18466115;19077034;20095038;20116244;20363736;20404108;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23562278;23687350;24515783;24529379;25418920;26154972;26893383;26992070;27846572;27893789;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29557506;29632046;30143532;30315122;30410026;30484775;30779550;31844290;32157095;32161166;32357974;32488085;32510182;32748349;33436626;33592498;33912179;33968037;34185709;34357683;34932366;35051231;35580925;36010968;36241641", "class_list": "", "function": "Discovery of TBC1D7 as a Potential Driver for Melanoma Cell Invasion., [RefSeq, PubMed]; Immunohistochemistry of NSCLC tumor tissue suggested an association of TBC1D7 expression with poor prognosis for NSCLC patients; Treatment of lung cancer cells using siRNA against TBC1D7, suppressed its expression and inhibited cell growth., [RefSeq, PubMed]; KIF2C: a novel link between Wnt/beta-catenin and mTORC1 signaling in the pathogenesis of hepatocellular carcinoma., [RefSeq, PubMed]; Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:22795129, PubMed:24529379). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (PubMed:22795129, PubMed:24529379). In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling (PubMed:22795129). The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 (PubMed:24529379)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this gene have been associated with autosomal recessive megalencephaly. Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between this locus and downstream LOC100130357. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E7EV96;Q2TU37;Q53F44;Q5SZL7;Q86VM8;Q96MB8", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding;GO:0062078 TSC1-TSC2 complex binding", "go_cellular_component": "GO:0033596 TSC1-TSC2 complex;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0031410 cytoplasmic vesicle;GO:0036064 ciliary basal body", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0043547 positive regulation of GTPase activity;GO:0031398 positive regulation of protein ubiquitination;GO:0032007 negative regulation of TOR signaling;GO:0070848 response to growth factor", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9P0N9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWL3-1", "uniprot_id": [ { "id": "HSC20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWL3", "type": "external" } ], "mass": 27422.0, "length": 235, "protein_name": "Iron-sulfur cluster co-chaperone protein HscB", "gene_name": "HSCB", "organism": "Human", "refseq_name": "iron-sulfur cluster co-chaperone protein HscB isoform 1 precursor", "refseq_ac": [ { "id": "NP_741999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741999", "type": "external" } ], "gene_names_uniprotkb": "HSCB; DNAJC20; HSC20", "gene_names_refseq": "DNAJC20; HSC20; HSCB; JAC1; SIDBA5", "protein_names_uniprotkb": "Iron-sulfur cluster co-chaperone protein HscB; DnaJ homolog subfamily C member 20", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 20; HscB iron-sulfur cluster co-chaperone homolog; HscB mitochondrial iron-sulfur cluster co-chaperone; J-type co-chaperone HSC20; epididymis secretory sperm binding protein; iron-sulfur cluster co-chaperone protein HscB isoform 1 precursor; iron-sulfur cluster co-chaperone protein HscB, mitochondrial", "tax_id": 9606, "disease": "sideroblastic anemia 5 (Disease Ontology:DOID:0061007); sideroblastic anemia (Disease Ontology:DOID:8955)", "pathway": " (hsa:150274); (R-HSA-1268020); (R-HSA-1362409); (R-HSA-6799198); (R-HSA-9865881)", "pathway_count": 5, "publication_count": 107, "publication_id_list": "10639125;11220739;11237011;11823441;12785837;12886008;12938016;12947415;12970193;14726512;15254020;15509595;15644312;15683237;15952888;16185709;16847322;16849325;17331979;17510655;17936786;18174896;18319250;18339629;18425540;18477386;18678864;18713742;19409522;19453276;19454487;19752196;19767391;19962426;20406883;20522547;20552642;20593814;20668094;20858599;20873749;21278747;21298097;21750375;21776984;21924235;21944046;21987576;22077971;22101253;22306468;22323289;22352884;22511353;23041349;23168492;23553477;23597483;23811401;24191001;24385928;24733926;25008109;25315652;25347204;25605331;25678554;26016389;26016518;26697887;26749241;27499296;27626371;27920218;27989128;28001042;28380382;28673544;28832583;28844695;28904123;29242379;29243944;29309586;30429286;30779550;31530632;31666358;31844290;31866046;32161166;32320651;32634119;32929120;33298915;33879611;33882309;33936100;33968037;33981976;34969438;35333655;35614220;37871810;38199007;38757931;9571201", "class_list": "", "function": "Acts as a co-chaperone in iron-sulfur cluster assembly in mitochondria (PubMed:20668094). Required for incorporation of iron-sulfur clusters into SDHB, the iron-sulfur protein subunit of succinate dehydrogenase that is involved in complex II of the mitochondrial electron transport chain (PubMed:26749241). Recruited to SDHB by interaction with SDHAF1 which first binds SDHB and then recruits the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20 (PubMed:26749241). Plays an essential role in hematopoiesis (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Acts as a co-chaperone in iron-sulfur cluster assembly in the cytoplasm (PubMed:29309586). Also mediates complex formation between components of the cytosolic iron-sulfur biogenesis pathway and the CIA targeting complex composed of CIAO1, DIPK1B/FAM69B and MMS19 by binding directly to the scaffold protein ISCU and to CIAO1 (PubMed:29309586). This facilitates iron-sulfur cluster insertion into a number of cytoplasmic and nuclear proteins including POLD1, ELP3, DPYD and PPAT (PubMed:29309586)., [UniProtKB, PubMed]; Cytosolic HSC20 is indispensable for cytoplasmic Fe-S assembly and delivery, which is initiated de novo in the cytosol., [RefSeq, PubMed]; PI3K/HSCB axis facilitates FOG1 nuclear translocation to promote erythropoiesis and megakaryopoiesis. Publication Status: Online-Only, [RefSeq, PubMed]; Structural analysis of human J-type co-chaperone HscB reveals a tetracysteine metal-binding domain, [RefSeq, PubMed]; Structural characterization of the human DjC20/HscB cochaperone in solution., [RefSeq, PubMed]; This gene encodes a DnaJ-type co-chaperone and member of the heat shock cognate B (HscB) family of proteins. The encoded protein plays a role in the synthesis of iron-sulfur clusters, protein cofactors that are involved in the redox reactions of mitochondrial electron transport and other processes. Cells in which this gene is knocked down exhibit reduced activity of iron-sulfur cluster-dependent enzymes including succinate dehydrogenase and aconitase. The encoded protein may stimulate the ATPase activity of the mitochondrial stress-70 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BWS7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0051087 protein-folding chaperone binding;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0060319 primitive erythrocyte differentiation;GO:0051259 protein complex oligomerization;GO:0060215 primitive hemopoiesis;GO:0044571 [2Fe-2S] cluster assembly", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q8IWL3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LZ7-1", "uniprot_id": [ { "id": "RMD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LZ7", "type": "external" } ], "mass": 47399.0, "length": 410, "protein_name": "Regulator of microtubule dynamics protein 2", "gene_name": "RMDN2", "organism": "Human", "refseq_name": "regulator of microtubule dynamics protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001164262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164262", "type": "external" } ], "gene_names_uniprotkb": "RMDN2; BLOCK18; FAM82A1; FAM82A; PRO34163", "gene_names_refseq": "BLOCK18; FAM82A1; FAM82A; PRO34163; PYST9371; RMD-2; RMD2; RMD4; RMDN2", "protein_names_uniprotkb": "Regulator of microtubule dynamics protein 2; Protein FAM82A1; RMD-2; hRMD-2", "protein_names_refseq": "family with sequence similarity 82, member A1; family with sequence similarity 82, member A; microtubule-associated protein; regulator of microtubule dynamics protein 2 isoform 2; regulator of microtubule dynamics protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:151393)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;12975309;18070910;23481700;24275569;24715725;26154972;26992070;28904123;29557506;30379171;30429286;31217245;31844290;32157095;32357974;32387766;32938616;33298915;33592498;33936100;33968037;34185709;34357683;34509645;35051231;35580925;36010968;37938771;39304655", "class_list": "", "function": "CYP1B1-RMDN2 Alzheimer's disease endophenotype locus identified for cerebral tau PET. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A9UMZ7;A9UN00;Q4ZG33;Q6UXN4;Q8N657;Q8N9A2;Q8NCV6;Q8NHM0", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0016020 membrane;GO:0005876 spindle microtubule", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q96LZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13283-1", "uniprot_id": [ { "id": "G3BP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13283", "type": "external" } ], "mass": 52164.0, "length": 466, "protein_name": "Ras GTPase-activating protein-binding protein 1", "gene_name": "G3BP1", "organism": "Human", "refseq_name": "ras GTPase-activating protein-binding protein 1", "refseq_ac": [ { "id": "NP_005745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005745", "type": "external" } ], "gene_names_uniprotkb": "G3BP1; G3BP", "gene_names_refseq": "G3BP1; G3BP; HDH-VIII", "protein_names_uniprotkb": "Ras GTPase-activating protein-binding protein 1; 3.6.4.12; 3.6.4.13; ATP-dependent DNA helicase VIII; G3BP-1; GAP SH3 domain-binding protein 1; hDH VIII", "protein_names_refseq": "ATP-dependent DNA helicase VIII; DNA helicase VIII; G3BP-1; GAP SH3 domain-binding protein 1; GAP binding protein; GTPase activating protein (SH3 domain) binding protein 1; Ras-GTPase-activating protein SH3-domain-binding protein; RasGAP-associated endoribonuclease G3BP; Rasputin homolog; ras GTPase-activating protein-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10146); (R-HSA-9705671)", "pathway_count": 2, "publication_count": 223, "publication_id_list": "11237011;11439350;11604510;11875071;12019269;12642610;12692549;12759408;15004565;15104674;15144186;15208624;15743820;16964243;17081983;17210633;17287340;17308301;17322306;17487921;17693683;17924679;18160138;18212344;18220336;18318008;18452278;18491316;18578522;18669648;18684830;18691976;18707149;18767875;18991276;19367720;19413330;19415658;19608861;19651622;19664994;19664995;19690332;20058876;20068230;20068231;20166139;20180778;20230923;20305658;21406692;22121020;22205990;22941947;23087212;23163895;23186163;23209657;23279204;23785203;23953116;24129315;24275569;24324649;24623412;24714562;24715725;25469497;25502872;25576301;25658430;25810538;25880248;26154972;26811146;26992070;27022092;27397612;27503676;27846572;27862975;27920254;28352266;28904123;29237092;29437277;29485866;29493099;29557506;30006004;30059200;30135423;30404792;30410026;30429286;30484775;30510222;30620550;30804210;31092671;31217245;31373491;31492838;31844290;31850239;31981475;32157095;32265295;32302570;32302571;32302572;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33141586;33214551;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33567255;33592498;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34078123;34084167;34087483;34110168;34166398;34171305;34211107;34239064;34290717;34341353;34357683;34375313;34400613;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34725712;34739333;34779554;34846842;34932366;35008409;35051231;35102342;35138101;35251023;35254053;35561310;35580925;35643212;35977029;36010968;36183834;36215666;36241641;36279435;36284347;36581221;36692217;37051252;37217939;37379838;37672657;37938771;38665916;39009911;39079611;39120973;39135075;39534244;40596516;40914422;8649363;9889278", "class_list": "", "function": "Caprin1 Bridges PRMT1 to G3BP1 and Spaces Them to Ensure Proper Stress Granule Formation., [RefSeq, PubMed]; Live Cell Protein Imaging of Tandem Complemented-GFP11-Tagged Coiled-Coil Domain-Containing Protein-124 Identifies this Factor in G3BP1-Induced Stress-Granules., [RefSeq, PubMed]; Protein involved in various processes, such as stress granule formation and innate immunity (PubMed:37672657, PubMed:20180778, PubMed:23279204, PubMed:30510222, PubMed:30804210). Plays an essential role in stress granule formation (PubMed:37672657, PubMed:20180778, PubMed:23279204, PubMed:32302570, PubMed:32302571, PubMed:32302572, PubMed:34739333, PubMed:35977029, PubMed:36183834, PubMed:36279435, PubMed:36692217, PubMed:37379838). Stress granules are membraneless compartments that store mRNAs and proteins, such as stalled translation pre-initiation complexes, in response to stress (PubMed:37672657, PubMed:20180778, PubMed:23279204, PubMed:27022092, PubMed:32302570, PubMed:32302571, PubMed:32302572, PubMed:36279435, PubMed:37379838). Promotes formation of stress granules phase-separated membraneless compartment by undergoing liquid-liquid phase separation (LLPS) upon unfolded RNA-binding: functions as a molecular switch that triggers RNA-dependent LLPS in response to a rise in intracellular free RNA concentrations (PubMed:32302570, PubMed:32302571, PubMed:32302572, PubMed:34739333, PubMed:36279435, PubMed:36692217). Also acts as an ATP- and magnesium-dependent helicase: unwinds DNA/DNA, RNA/DNA, and RNA/RNA substrates with comparable efficiency (PubMed:9889278). Acts unidirectionally by moving in the 5' to 3' direction along the bound single-stranded DNA (PubMed:9889278). Unwinds preferentially partial DNA and RNA duplexes having a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends (PubMed:9889278). Plays an essential role in innate immunity by promoting CGAS and RIGI activity (PubMed:30510222, PubMed:30804210). Participates in the DNA-triggered cGAS/STING pathway by promoting the DNA binding and activation of CGAS (PubMed:30510222). Triggers the condensation of cGAS, a process probably linked to the formation of membrane-less organelles (PubMed:34779554). Also enhances RIGI-induced type I interferon production probably by helping RIGI at sensing pathogenic RNA (PubMed:30804210). May also act as a phosphorylation-dependent sequence-specific endoribonuclease in vitro: Cleaves exclusively between cytosine and adenine and cleaves MYC mRNA preferentially at the 3'-UTR (PubMed:11604510)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The divergent effects of G3BP orthologs on human stress granule assembly imply a centric role for the core protein interaction network., [RefSeq, PubMed]; This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding proteins and is also an element of the Ras signal transduction pathway. It binds specifically to the Ras-GTPase-activating protein by associating with its SH3 domain. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 19, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5HYE9", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0033677 DNA/RNA helicase activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0043204 perikaryon", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0007265 Ras protein signal transduction;GO:0034063 stress granule assembly;GO:0032481 positive regulation of type I interferon production", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "Q13283-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIF9-1", "uniprot_id": [ { "id": "BAZ2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIF9", "type": "external" } ], "mass": 211198.0, "length": 1905, "protein_name": "Bromodomain adjacent to zinc finger domain protein 2A", "gene_name": "BAZ2A", "organism": "Human", "refseq_name": "bromodomain adjacent to zinc finger domain protein 2A isoform 1", "refseq_ac": [ { "id": "NP_038477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038477", "type": "external" } ], "gene_names_uniprotkb": "BAZ2A; KIAA0314; TIP5", "gene_names_refseq": "BAZ2A; TIP5; WALp3", "protein_names_uniprotkb": "Bromodomain adjacent to zinc finger domain protein 2A; TTF-I-interacting protein 5; Tip5; Transcription termination factor I-interacting protein 5; hWALp3", "protein_names_refseq": "TTF-I interacting peptide 5; TTF-I-interacting protein 5; bromodomain adjacent to zinc finger domain protein 2A isoform 1; bromodomain adjacent to zinc finger domain protein 2A; transcription termination factor I-interacting protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:11176); (R-HSA-427413)", "pathway_count": 2, "publication_count": 126, "publication_id_list": "10.1101/2023.09.13.557529;10471499;10662543;11237011;14610093;15302935;17081983;17355984;17525332;18452278;18669648;18691976;18991276;19007248;19413330;19578370;19651622;19664995;19690332;19838300;20068231;21406692;22544926;22645359;23186163;23481700;24275569;24366607;24715725;25418920;25576301;25593309;25645385;25772364;25880248;25892735;25916849;26100909;26154972;26811146;26992070;27058226;27600516;27846572;27920218;28218747;28228285;28446606;28467828;28514659;28801535;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30379171;30410026;30484775;30524438;30620550;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34403195;34405274;34509645;34561969;34715126;34725712;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37184661;37925811;37938771;38433277;7597036", "class_list": "", "function": "BAZ2A-RNA mediated association with TOP2A and KDM1A represses genes implicated in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; BAZ2A-mediated repression via H3K14ac-marked enhancers promotes prostate cancer stem cells., [RefSeq, PubMed]; Nasopharyngeal carcinoma derived exosomes regulate the proliferation and migration of nasopharyngeal carcinoma cells by mediating the miR-99a-5p BAZ2A axis., [RefSeq, PubMed]; Pan-cancer and multi-omics analyses revealed the diagnostic and prognostic value of BAZ2A in liver cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of the ATP-dependent NoRC-1 and NoRC-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair (PubMed:28801535). Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template (PubMed:28801535). Directly stimulates the ATPase activity of SMARCA5 in the NoRC-5 ISWI chromatin remodeling complex (PubMed:28801535). The NoRC-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the NoRC-5 ISWI chromatin remodeling complex (PubMed:28801535). Within the NoRC-5 ISWI chromatin remodeling complex, mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing (By similarity). In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription (By similarity). Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H4 acetylated on 'Lys-16' (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12ac but not H4K16ac (By similarity). Specifically binds pRNAs, 150-250 nucleotide RNAs that are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNA silencing (By similarity)., [UniProtKB, UniProtKB, PubMed]; Structural basis of the TAM domain of BAZ2A in binding to DNA or RNA independent of methylation status., [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B3KN66;O00536;O15030;Q68DI8;Q96H26", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0042393 histone binding;GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0016607 nuclear speck;GO:0005677 chromatin silencing complex;GO:0033553 rDNA heterochromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0000183 rDNA heterochromatin formation;GO:0001188 RNA polymerase I preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9UIF9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5U4P2-1", "uniprot_id": [ { "id": "ASPH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5U4P2", "type": "external" } ], "mass": 41128.0, "length": 390, "protein_name": "Aspartate beta-hydroxylase domain-containing protein 1", "gene_name": "ASPHD1", "organism": "Human", "refseq_name": "aspartate beta-hydroxylase domain-containing protein 1", "refseq_ac": [ { "id": "NP_859069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859069", "type": "external" } ], "gene_names_uniprotkb": "ASPHD1", "gene_names_refseq": "ASPHD1", "protein_names_uniprotkb": "Aspartate beta-hydroxylase domain-containing protein 1; 1.14.11.-", "protein_names_refseq": "aspartate beta-hydroxylase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:253982)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18691976;25418920;27600516;29242379;29557506;31844290;32157095;32161166;32387766;32938616;33592498;33968037;34509645;35051231;36010968;36215666;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 9753, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AVE3;B7ZLZ3;Q8IW63;Q8N316;Q96H00", "ec_number_list": [], "go_molecular_function": "GO:0051213 dioxygenase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5U4P2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPI6-1", "uniprot_id": [ { "id": "DCP1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPI6", "type": "external" } ], "mass": 63278.0, "length": 582, "protein_name": "mRNA-decapping enzyme 1A", "gene_name": "DCP1A", "organism": "Human", "refseq_name": "mRNA-decapping enzyme 1A isoform b", "refseq_ac": [ { "id": "NP_001277133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277133", "type": "external" } ], "gene_names_uniprotkb": "DCP1A; SMIF", "gene_names_refseq": "DCP1A; HSA275986; Nbla00360; SMAD4IP1; SMIF", "protein_names_uniprotkb": "mRNA-decapping enzyme 1A; 3.6.1.62; Smad4-interacting transcriptional co-activator; Transcription factor SMIF", "protein_names_refseq": "DCP1 decapping enzyme homolog A; DCP1 decapping enzyme-like protein A; Smad4-interacting transcriptional co-activator; decapping enzyme hDcp1a; mRNA-decapping enzyme 1A isoform b; mRNA-decapping enzyme 1A; putative protein product of Nbla00360; transcription factor SMIF", "tax_id": 9606, "disease": "", "pathway": " (hsa:55802); (R-HSA-430039); (R-HSA-450385); (R-HSA-450513); (R-HSA-975957)", "pathway_count": 5, "publication_count": 169, "publication_id_list": "10.1101/2023.09.13.557529;10330172;11237011;11283721;11331269;11532962;11544179;11546874;11551508;11719186;11836524;12198173;12218187;12324455;12417715;12486012;12515382;12554878;12639954;12646273;12705825;12717392;12718880;12748283;12832468;12923261;14527413;14636577;14688255;14742663;14749774;14973490;14976220;15014438;15034551;15085179;15117938;15231747;15475613;15538381;15546618;15687258;15711010;15721257;15944294;16051491;16141059;16186820;16209946;16246173;16262601;16284618;16299471;16364915;16452507;16534867;16601204;17030608;17053788;17081983;17133347;17245413;17352659;17363904;17369404;17522429;17803942;17893241;18039849;18066079;18220336;18256688;18326031;18367721;18422961;18423202;18481987;18524595;18657639;18669648;18691976;18974281;19060897;19061636;19150429;19239894;19279404;19359157;19362088;19417104;19478851;19503078;19556969;19690332;19729507;19859661;19909264;20012107;20023408;20068231;20479275;20691628;20817927;20930030;21145460;21406692;21419344;21859862;21876179;22661428;23085078;23186163;23234702;23300942;23301498;23481700;24129315;24275569;25220460;25382443;25645385;27918561;28314751;29351928;29493099;30429286;31373491;31611695;31844290;32119511;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33537174;33592498;33813271;33912179;33936100;33968037;33981976;34019948;34171305;34509645;34609335;34932366;35051231;35138101;35251023;35254053;35494241;35580925;36010968;36284347;37217939;38665916;39302247;39531497;39534244;40136647;40914422", "class_list": "", "function": "DCP1A is an unfavorable prognostic-related enhancer RNA in hepatocellular carcinoma., [RefSeq, PubMed]; Decapping is a key step in general and regulated mRNA decay. The protein encoded by this gene is a decapping enzyme. This protein and another decapping enzyme form a decapping complex, which interacts with the nonsense-mediated decay factor hUpf1 and may be recruited to mRNAs containing premature termination codons. This protein also participates in the TGF-beta signaling pathway. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay (PubMed:12417715). Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP (PubMed:12417715). Contributes to the transactivation of target genes after stimulation by TGFB1 (PubMed:11836524). Essential for embryonic development (PubMed:33813271)., [UniProtKB, PubMed, PubMed, PubMed]; Overexpression of wild-type SMIF enhanced expression of TGFbeta/BMP regulated genes, whereas a dominant-negative SMIF mutant suppressed expression., [RefSeq, PubMed]; These data suggest that a human decapping complex containing decapping enzymes hDcp1a and hDcp2 may be recruited to mRNAs containing premature termination codons by the hUpf proteins., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B4DHN9;U3KQM8", "ec_number_list": [ { "id": "3.6.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.59", "type": "external" }, { "id": "3.6.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.52", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.10", "type": "external" }, { "id": "3.6.1.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.61", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" } ], "go_molecular_function": "GO:0003729 mRNA binding;GO:0008047 enzyme activator activity;GO:0042802 identical protein binding;GO:0019894 kinesin binding;GO:0140933 5'-(N(7)-methylguanosine 5'-triphospho)-[mRNA] hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0000290 deadenylation-dependent decapping of nuclear-transcribed mRNA;GO:1903608 protein localization to cytoplasmic stress granule;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0000288 nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay;GO:0031087 deadenylation-independent decapping of nuclear-transcribed mRNA", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q9NPI6-1", "record_type": "protein", "filter_code": "1000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95070-1", "uniprot_id": [ { "id": "YIF1A_HUMAN", "url": "https://www.uniprot.org/uniprot/O95070", "type": "external" } ], "mass": 32011.0, "length": 293, "protein_name": "Protein YIF1A", "gene_name": "YIF1A", "organism": "Human", "refseq_name": "protein YIF1A isoform 1", "refseq_ac": [ { "id": "NP_065203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065203", "type": "external" } ], "gene_names_uniprotkb": "YIF1A; 54TM; HYIF1P; YIF1", "gene_names_refseq": "54TM; FinGER7; YIF1A; YIF1P; YIF1", "protein_names_uniprotkb": "Protein YIF1A; 54TMp; YIP1-interacting factor homolog A", "protein_names_refseq": "YIP1-interacting factor homolog A; Yip1p-interacting factor; protein YIF1A isoform 1; protein YIF1A; putative Rab5-interacting protein; putative transmembrane protein 54TMp", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:10897); (R-HSA-381038)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10601334;10827079;11237011;12204115;15308636;15466936;15990086;16461360;16539657;18664523;21282569;21406692;22898188;23186163;25418920;25576301;26077767;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;30315122;30410026;30429286;30833945;31154438;31217245;31844290;31848261;31998317;32161166;32265295;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33912179;33968037;34171305;34932366;35051231;35580925;36010968;36215666;36284347;37938771;38665916;7590364;8666242;9037597;9450183;9473480", "class_list": "", "function": "Has a role in transport between endoplasmic reticulum and Golgi., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Possible role in transport between endoplasmic reticulum and Golgi., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NM00;Q96G83;Q9BVD0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O95070-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20592-1", "uniprot_id": [ { "id": "MX2_HUMAN", "url": "https://www.uniprot.org/uniprot/P20592", "type": "external" } ], "mass": 82089.0, "length": 715, "protein_name": "Interferon-induced GTP-binding protein Mx2", "gene_name": "MX2", "organism": "Human", "refseq_name": "interferon-induced GTP-binding protein Mx2", "refseq_ac": [ { "id": "NP_002454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002454", "type": "external" } ], "gene_names_uniprotkb": "MX2", "gene_names_refseq": "MX2; MXB", "protein_names_uniprotkb": "Interferon-induced GTP-binding protein Mx2; Interferon-regulated resistance GTP-binding protein MxB; Myxovirus resistance protein 2; p78-related protein", "protein_names_refseq": "interferon-induced GTP-binding protein Mx2; interferon-regulated resistance GTP-binding protein MXB; myxovirus (influenza virus) resistance 2; myxovirus resistance protein 2; p78-related protein; second interferon-induced protein p78", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease dominant intermediate B (Disease Ontology:DOID:0110197); centronuclear myopathy 1 (Disease Ontology:DOID:0111223); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); microcytic anemia (Disease Ontology:DOID:11252); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:4600); (R-HSA-1169408); (R-HSA-909733)", "pathway_count": 3, "publication_count": 197, "publication_id_list": "10395669;10542297;10982844;11092454;11095724;11112487;11157743;11237011;11337497;11377645;11404376;11585831;11788588;12029096;12525615;12582176;12766484;12842042;14769151;14978097;15047845;15131269;15184662;15312780;15449939;15485925;15702989;15778442;16009940;16112642;16122702;16139798;16171819;16352599;16407192;16428300;16699525;16715065;16775314;16815975;16872604;16914094;16987978;17251292;17289916;1730654;17351669;17376915;17969444;18035202;18062906;18083107;18287095;18305167;18575461;18583345;19073728;19125153;19270716;19531498;20130243;20133869;20219937;20308324;20363976;20385878;20643137;2154602;21654843;2211721;22424782;22645359;23061660;23121362;23481700;23783831;24048477;24055605;24121441;24139395;24417533;24714562;24715725;2481229;25371710;25418920;25576301;25645385;25880248;26154972;26375851;26728094;26992070;27543614;27846572;27893789;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30485383;30833945;31154438;31530632;31844290;31848261;31937595;31998317;32032529;32113509;32157095;32350084;32357974;32387766;32411130;32502341;32511913;32574262;32661006;32758689;32862111;32897882;32938616;32983136;33117408;33123756;33141586;33189161;33193462;33298915;33396578;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34171305;34185709;34211107;34357683;34509645;34561969;34707174;34932366;35051231;35318648;35505682;35561310;35580925;36059547;36284347;36743306;37796130;37938771;6162102;6548414;688397;7510216;7526154;7537377;7540766;7559393;8197134;8232552;8605876;8621447;8702790;9096384;9121453;9242679;9334213;9525617;9660177;9847332;9861020", "class_list": "", "function": "A single polymorphic residue in humans underlies species-specific restriction of HSV-1 by the antiviral protein MxB., [RefSeq, PubMed]; Genetic polymorphisms in the IFNL4, MxA, and MxB genes were associated with biochemical index of chronic HBV patients from Yunnan, China. Publication Status: Online-Only, [RefSeq, PubMed]; High accumulation of Mx2 renders limited multiplication of oncolytic herpes simplex virus-1 in human tumor cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon-induced dynamin-like GTPase with potent antiviral activity against human immunodeficiency virus type 1 (HIV-1). Acts by targeting the viral capsid and affects the nuclear uptake and/or stability of the HIV-1 replication complex and the subsequent chromosomal integration of the proviral DNA. Exhibits antiviral activity also against simian immunodeficiency virus (SIV-mnd). May play a role in regulating nucleocytoplasmic transport and cell-cycle progression., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MX2: Identification and systematic mechanistic analysis of a novel immune-related biomarker for systemic lupus erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms of the MxA and MxB genes are associated with biochemical indices and viral subtypes in Yunnan HCV patients. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene has a nuclear and a cytoplasmic form and is a member of both the dynamin family and the family of large GTPases. The nuclear form is localized in a granular pattern in the heterochromatin region beneath the nuclear envelope. A nuclear localization signal (NLS) is present at the amino terminal end of the nuclear form but is lacking in the cytoplasmic form due to use of an alternate translation start codon. This protein is upregulated by interferon-alpha but does not contain the antiviral activity of a similar myxovirus resistance protein 1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5D3;D3DSI7", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0006952 defense response;GO:0015031 protein transport;GO:0045087 innate immune response;GO:0046822 regulation of nucleocytoplasmic transport;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 19.8, "record_id": "P20592-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0PJX0-1", "uniprot_id": [ { "id": "CIB4_HUMAN", "url": "https://www.uniprot.org/uniprot/A0PJX0", "type": "external" } ], "mass": 21745.0, "length": 185, "protein_name": "Calcium and integrin-binding family member 4", "gene_name": "CIB4", "organism": "Human", "refseq_name": "calcium and integrin-binding family member 4", "refseq_ac": [ { "id": "NP_001025052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025052", "type": "external" } ], "gene_names_uniprotkb": "CIB4", "gene_names_refseq": "CIB4; KIP4", "protein_names_uniprotkb": "Calcium and integrin-binding family member 4", "protein_names_refseq": "calcium and integrin-binding family member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:130106)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "22779914;35051231", "class_list": "", "function": "CIB4, as binding partners for the integrin alphaIIb subunit, which suggests that they are potentially involved in regulating integrin alphaIIb subunit activation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RU18", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0PJX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02730-1", "uniprot_id": [ { "id": "B3AT_HUMAN", "url": "https://www.uniprot.org/uniprot/P02730", "type": "external" } ], "mass": 101792.0, "length": 911, "protein_name": "Band 3 anion transport protein", "gene_name": "SLC4A1", "organism": "Human", "refseq_name": "band 3 anion transport protein", "refseq_ac": [ { "id": "NP_000333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333", "type": "external" } ], "gene_names_uniprotkb": "SLC4A1; AE1; DI; EPB3", "gene_names_refseq": "AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR; RTA1A; SAO; SLC4A1; SPH4; SW; WD1; WD; WR", "protein_names_uniprotkb": "Band 3 anion transport protein; AE 1; Anion exchange protein 1; Anion exchanger 1; Solute carrier family 4 member 1", "protein_names_refseq": "Froese blood group; Swann blood group; Waldner blood group; Wright blood group; anion exchange protein 1; anion exchanger-1; band 3 anion exchanger; band 3 anion transport protein; erythrocyte membrane protein band 3; erythroid anion exchange protein; solute carrier family 4 (anion exchanger), member 1 (Diego blood group); solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group); solute carrier family 4, anion exchanger, number 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); metabolic acidosis (Disease Ontology:DOID:0050758); hereditary spherocytosis type 4 (Disease Ontology:DOID:0110919); iron deficiency anemia (Disease Ontology:DOID:11758); malaria (Disease Ontology:DOID:12365); hereditary spherocytosis (Disease Ontology:DOID:12971); renal tubular acidosis (Disease Ontology:DOID:14219); anemia (Disease Ontology:DOID:2355); hereditary elliptocytosis (Disease Ontology:DOID:2373); glucosephosphate dehydrogenase deficiency (Disease Ontology:DOID:2862); congenital hemolytic anemia (Disease Ontology:DOID:589); southeast Asian ovalocytosis (MONDO:MONDO:0008165); autosomal dominant distal renal tubular acidosis (MONDO:MONDO:0008368); cryohydrocytosis (MONDO:MONDO:0008494); renal tubular acidosis, distal, 4, with hemolytic anemia (MONDO:MONDO:0012700); obsolete blood group, diego system (MONDO:MONDO:0020610); obsolete blood group--waldner type (MONDO:MONDO:0020624); obsolete blood group--wright antigen (MONDO:MONDO:0020625); malaria, susceptibility to (MONDO:MONDO:0021024)", "pathway": " (hsa:6521); (R-HSA-1237044); (R-HSA-1247673); (R-HSA-425381); (R-HSA-5619050)", "pathway_count": 5, "publication_count": 166, "publication_id_list": "10090333;10191257;10347222;10361240;10362779;10364201;10391381;10529219;10545938;10580570;10585855;10611283;10738034;10745622;10861210;10926824;10942405;10942416;10978526;11049968;11061863;11155072;11208088;11237011;11305939;11380459;11606574;11788353;11876646;12070037;12692305;12754312;1281633;12933803;1311094;1352774;1378323;1395;14630931;14734552;14958;15131110;15211439;1527044;1538405;15501038;1554744;15649129;15813913;15858218;16096263;16227998;16252102;16563834;1678289;16992238;16994616;17012249;1722314;17712059;17990881;18319254;1885574;18984734;19273840;19668749;1998697;20151848;20162361;20230836;2065070;20980406;21041929;2111324;21849667;2204832;23219802;234739;24121512;24472682;2506737;25937211;2594752;26049106;26542571;27452731;2790053;28387307;29557506;29741879;29786170;3015590;3080418;3119859;3136125;31844290;3223947;32387766;3372523;34509645;35051231;35580925;35835865;36284347;36320073;37074911;37775346;38669699;3938604;4203704;4514311;4647257;4975618;4994926;5656372;6345535;6407977;6417382;6433979;6615451;6819139;701248;7506871;7530501;7539597;7541176;7596635;7665627;7812009;7923606;8008452;8045253;8070313;8168533;8206915;8300612;8343110;8471774;8508760;8527430;8547122;8617330;8640229;8728989;8875343;8943874;8972395;9012689;9054574;9143858;9191821;9207478;9233560;9235899;9312167;9336012;9454576;9486145;9600966;9651366;9709005;9709782;9765907;9845551;9854053;9973643", "class_list": "", "function": "(Microbial infection) Acts as a receptor for P.falciparum (isolate 3D7) MSP9 and thus, facilitates merozoite invasion of erythrocytes (PubMed:14630931). Acts as a receptor for P.falciparum (isolate 3D7) MSP1 and thus, facilitates merozoite invasion of erythrocytes (PubMed:12692305)., [UniProtKB, PubMed, PubMed]; Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?, [RefSeq, PubMed]; Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein (PubMed:10926824, PubMed:14734552, PubMed:1538405, PubMed:16227998, PubMed:20151848, PubMed:24121512, PubMed:28387307, PubMed:35835865). Component of the ankyrin-1 complex of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin (PubMed:1538405, PubMed:20151848, PubMed:35835865). Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine (PubMed:10926824, PubMed:14734552, PubMed:16227998, PubMed:24121512, PubMed:28387307)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Unraveling the molecular landscape of kAE1: a narrative review. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 23, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 51, "disease_count": 19, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "G4V2I6;P78487;Q1ZZ45;Q4KKW9;Q4VB84;Q9UCY7;Q9UDJ1", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0008509 monoatomic anion transmembrane transporter activity;GO:0030492 hemoglobin binding;GO:0043495 protein-membrane adaptor activity;GO:0005452 solute:inorganic anion antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0055085 transmembrane transport;GO:0006821 chloride transport;GO:1902476 chloride transmembrane transport;GO:0015701 bicarbonate transport;GO:0006820 monoatomic anion transport", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "P02730-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95450-1", "uniprot_id": [ { "id": "ATS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95450", "type": "external" } ], "mass": 134755.0, "length": 1211, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 2", "gene_name": "ADAMTS2", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_055059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055059", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS2; PCINP; PCPNI", "gene_names_refseq": "ADAM-TS2; ADAMTS-2; ADAMTS-3; ADAMTS2; EDSDERMS; NPI; PC I-NP; PCI-NP; PCINP; PCPNI; PNPI", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 2; 3.4.24.14; ADAM-TS 2; ADAM-TS2; ADAMTS-2; PC I-NP; Procollagen I N-proteinase; Procollagen I/II amino propeptide-processing enzyme; Procollagen N-endopeptidase; pNPI", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 2 isoform 1 preproprotein; a disintegrin and metalloproteinase with thrombospondin motifs 2; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2; procollagen I N-proteinase; procollagen I/II amino propeptide-processing enzyme; procollagen N-endopeptidase", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); Ehlers-Danlos syndrome dermatosparaxis type (Disease Ontology:DOID:0080733); Ehlers-Danlos syndrome (Disease Ontology:DOID:13359)", "pathway": " (hsa:9509); (R-HSA-1650814); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 4, "publication_count": 69, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10417273;10479448;10934207;11067851;11237011;12473679;12475640;12646579;1323838;14500733;15044469;1577494;16046392;16464858;16591531;18487197;18720094;19075007;19693541;19796186;20470363;21878990;21967573;22588082;23584533;23889335;24715725;2543975;25544610;25863161;27726376;29557506;29731959;29786170;30429286;30459171;31152061;31217245;31530632;3173483;31848261;32350084;32387766;32817637;32938616;33141586;33392160;33592498;33968037;34509645;35051231;35251023;36124393;36284347;36602125;37074911;37929635;3905801;3938630;39894887;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "glycogene", "function": "ADAMTS12, a new candidate gene for pediatric stroke. Publication Status: Online-Only, [RefSeq, PubMed]; Cleaves the propeptides of type I and II collagen prior to fibril assembly (By similarity). Does not act on type III collagen (By similarity). Cleaves lysyl oxidase LOX at a site downstream of its propeptide cleavage site to produce a short LOX form with reduced collagen-binding activity (PubMed:31152061)., [UniProtKB, PubMed, UniProtKB]; Data indicate that ADAMTS2 and 3 cleave the amino-propeptide of fibrillar collagens and regulate blood vessels homeostasis and lymphangiogenesis. Also, ADAMTS2 deficiency leads to the dermatosparactic type of Ehlers-Danlos syndrome. [review] Review article, [RefSeq, PubMed]; Determination of the processing, activity and cleavage specificity of the bovine ADAMTS2 protein., [RefSeq, PubMed]; Genome-wide association study of early ischaemic stroke risk in Brazilian individuals with sickle cell disease implicates ADAMTS2 and CDK18 and uncovers novel loci., [RefSeq, PubMed]; Mutations in the TBX15-ADAMTS2 pathway associate with a novel soft palate dysplasia., [RefSeq, PubMed]; Opposing roles for ADAMTS2 and ADAMTS14 in myofibroblast differentiation and function., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1760, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 3, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0030199 collagen fibril organization;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O95450-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX40-1", "uniprot_id": [ { "id": "OCAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX40", "type": "external" } ], "mass": 27626.0, "length": 245, "protein_name": "OCIA domain-containing protein 1", "gene_name": "OCIAD1", "organism": "Human", "refseq_name": "OCIA domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001073308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073308", "type": "external" } ], "gene_names_uniprotkb": "OCIAD1; ASRIJ; OCIA", "gene_names_refseq": "ASRIJ; OCIAD1; OCIA; TPA018", "protein_names_uniprotkb": "OCIA domain-containing protein 1; Ovarian cancer immunoreactive antigen domain containing 1; Ovarian carcinoma immunoreactive antigen", "protein_names_refseq": "OCIA domain-containing protein 1 isoform 1; OCIA domain-containing protein 1; ovarian cancer immunoreactive antigen domain containing 1A; ovarian cancer immunoreactive antigen domain containing 1; ovarian carcinoma immunoreactive antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:54940)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;11162530;11237011;17081983;17924679;18212344;18328549;18669648;18691976;19608861;19651622;19664994;19664995;19690332;20068231;20166139;20515946;21406692;23186163;23301498;24275569;25469497;26154972;26992070;27452731;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29557506;29632046;29743632;29769354;29786170;30410026;30429286;30484775;31092671;31217245;31844290;32157095;32350084;32387766;32488085;32697788;32897882;32983136;33392160;33592498;33717175;33912179;33968037;33981976;34034859;34932366;35051231;35251023;35289036;35318648;35561310;35580925;36241641;36284347;37938771;38665916;40596516", "class_list": "", "function": "Genome-wide CRISPRi screening identifies OCIAD1 as a prohibitin client and regulatory determinant of mitochondrial Complex III assembly in human cells. Publication Status: Online-Only, [RefSeq, PubMed]; Maintains stem cell potency (By similarity). Increases STAT3 phosphorylation and controls ERK phosphorylation (By similarity). May act as a scaffold, increasing STAT3 recruitment onto endosomes (By similarity). Involved in integrin-mediated cancer cell adhesion and colony formation in ovarian cancer (PubMed:20515946)., [UniProtKB, UniProtKB, PubMed]; Maintains stem cell potency. Increases STAT3 phosphorylation and controls ERK phosphorylation. May act as a scaffold, increasing STAT3 recruitment onto endosomes., [UniProtKB, UniProtKB]; OCIAD1 is a host mitochondrial substrate of the hepatitis C virus NS3-4A protease. Publication Status: Online-Only, [RefSeq, PubMed]; Over-expressed in metastatic ovarian cancer. Effect of OCIAD1 on cell adhesion may be related to its function in ovarian cancer. Possibility of OCIAD1's role in tumor metastasis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C9K030;G8JLN7;Q9BZE8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0006897 endocytosis;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:0061484 hematopoietic stem cell homeostasis;GO:2000736 regulation of stem cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9NX40-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94766-1", "uniprot_id": [ { "id": "B3GA3_HUMAN", "url": "https://www.uniprot.org/uniprot/O94766", "type": "external" } ], "mass": 37122.0, "length": 335, "protein_name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3", "gene_name": "B3GAT3", "organism": "Human", "refseq_name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 4", "refseq_ac": [ { "id": "NP_001275652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275652", "type": "external" } ], "gene_names_uniprotkb": "B3GAT3", "gene_names_refseq": "B3GAT3; GLCATI; JDSCD; glcUAT-I", "protein_names_uniprotkb": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3; 2.4.1.135; Beta-1,3-glucuronyltransferase 3; GlcAT-I; GlcUAT-I; Glucuronosyltransferase I; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase", "protein_names_refseq": "Sqv-8-like protein; UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase; beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I); galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 4; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3", "tax_id": 9606, "disease": "Larsen-like syndrome B3GAT3 type (Disease Ontology:DOID:0080575)", "pathway": " (hsa:26229); (R-HSA-1971475); (R-HSA-3560801)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10473568;10506123;10526176;10842173;10946001;11099377;11237011;11551958;11877387;11950836;12522689;14993226;15294915;15461586;17194707;18400750;19473117;21763480;22810237;23584533;23656592;24425863;24668659;24714562;24715725;25502872;25521717;25645385;25813380;25892735;25893793;26086840;26728094;26754439;26992070;27846572;28218747;28228285;28467828;28771243;29437277;29557506;29769354;29786170;30315122;30779550;31988067;32157095;32350084;32897882;32983136;33298915;33592498;34087483;34171305;34357683;34932366;35051231;35154160;35251023;35318648;36241641;37217939;38665916;39534244;40914422;9506957;9892646;9927678", "class_list": "glycogene;glycosyltransferase", "function": "Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863)., [UniProtKB, PubMed, PubMed]; Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis., [RefSeq, PubMed]; Since the phenotype of the Nias patients differs from the Larsen-like syndrome described for patients with mutation p.(Arg277Gln), we suggest mutation B3GAT3:p.(Pro140Leu) to cause a different type of GAG linkeropathy showing no involvement of the heart., [RefSeq, PubMed]; The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]., [RefSeq]; We identified a novel B3GAT3-related disorder with craniosynostosis and bone fragility, due to a unique homozygous mutation in B3GAT3. This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 436, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B7ZAB3;Q96I06;Q9UEP0", "ec_number_list": [ { "id": "2.4.1.135", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.135", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0015020 glucuronosyltransferase activity;GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity;GO:0072542 protein phosphatase activator activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005801 cis-Golgi network", "go_biological_process": "GO:0090316 positive regulation of intracellular protein transport;GO:0005975 carbohydrate metabolic process;GO:0043085 positive regulation of catalytic activity;GO:0006024 glycosaminoglycan biosynthetic process;GO:0015012 heparan sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "O94766-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000011000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17405-1", "uniprot_id": [ { "id": "ASM_HUMAN", "url": "https://www.uniprot.org/uniprot/P17405", "type": "external" } ], "mass": 69936.0, "length": 631, "protein_name": "Sphingomyelin phosphodiesterase", "gene_name": "SMPD1", "organism": "Human", "refseq_name": "sphingomyelin phosphodiesterase isoform 1 precursor", "refseq_ac": [ { "id": "NP_000534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000534", "type": "external" } ], "gene_names_uniprotkb": "SMPD1; ASM", "gene_names_refseq": "ASMASE; ASM; NPD; SMPD1", "protein_names_uniprotkb": "Sphingomyelin phosphodiesterase; 3.1.4.12; 3.1.4.3; Acid sphingomyelinase; aSMase", "protein_names_refseq": "Niemann-Pick type A/B; acid sphingomyelinase; sphingomyelin phosphodiesterase 1, acid lysosomal; sphingomyelin phosphodiesterase isoform 1 precursor", "tax_id": 9606, "disease": "Niemann-Pick disease type A (Disease Ontology:DOID:0070111); Niemann-Pick disease type B (Disease Ontology:DOID:0070112); Niemann-Pick disease (Disease Ontology:DOID:14504); Wilson disease (Disease Ontology:DOID:893)", "pathway": " (hsa:6609); (R-HSA-9769739); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 235, "publication_id_list": "10.1101/2023.09.13.557529;10026158;10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11035113;11237011;11238108;11350180;11489889;11707436;11784319;11833835;11932991;12052963;12369017;12374214;12510003;12518053;12556236;12563314;12566438;12594539;12607113;12631268;12662933;12694237;12885774;12888274;12907439;12909021;1292508;1301192;1352293;1352993;1391960;15003450;15213228;15221801;15241805;15458386;15714521;15773042;15845354;15877209;16010684;16161994;1618760;1618828;16229686;16230343;1634229;16472269;16478472;16517606;16595074;16619025;16698036;1670590;1678251;16787399;17105727;1718266;1720305;17303575;17322306;1740330;17506785;1756715;17598008;17635713;18088425;1840600;18524657;18815062;1885770;1889421;1902833;19050888;1907800;1915858;19297154;1930190;19405096;19836391;2001789;2023926;20386867;20427285;20530211;20728381;20807762;21098024;21157428;21621718;21932952;22144186;22573858;22613662;22618708;2271516;22786881;22818240;23252888;23430512;23430884;235289;23683607;2384594;239890;24554904;25339683;2538457;2555181;2562955;25713144;25855704;25920558;26084044;26125272;26499107;2717620;27338287;27349982;27659707;27725636;27726376;28126847;28228285;28832583;28855257;28871256;29242379;29314611;29419409;29443946;29508533;29557506;2960521;2965147;29671580;29692406;2970528;2971395;29747811;2976757;29802621;3014515;30315122;3048308;30918026;31155842;31262782;3136930;31439947;31495489;3158659;31844290;32157095;32350084;32488085;32938616;32983136;33043033;33163980;33298915;33592498;33968037;34171305;34357683;3456607;35051231;35154160;35251023;36215666;36241641;36284347;36951953;37341882;3744129;37726033;38337058;3863104;38665916;38782304;39940;5135907;5164093;527942;5822067;6323392;7499257;7504405;7628016;7730378;7744740;7762557;7852280;8051942;8144529;8225311;8281145;8370580;8399327;8401540;8407868;8573994;8591035;8639781;8663398;8664904;8680412;8693491;8702487;8706124;8804427;8889578;8955159;8985184;9030779;9217013;9218519;9266408;9338580;9393854;9459334;9469622;9520418;9521684;9660788", "class_list": "glycogene", "function": "(Microbial infection) Secretion is activated by bacteria such as P.aeruginosa, N.gonorrhoeae and others, this activation results in the release of ceramide in the outer leaflet of the plasma membrane which facilitates the infection., [UniProtKB, PubMed, PubMed, PubMed]; (Microbial infection) Secretion is activated by human coronaviruses SARS-CoV and SARS-CoV-2 as well as Zaire ebolavirus, this activation results in the release of ceramide in the outer leaflet of the plasma membrane which facilitates the infection., [UniProtKB, PubMed, PubMed]; ASM variants in the spotlight: A structure-based atlas for unraveling pathogenic mechanisms in lysosomal acid sphingomyelinase., [RefSeq, PubMed]; Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer's disease. Review article, [RefSeq, PubMed]; Converts sphingomyelin to ceramide (PubMed:12563314, PubMed:1840600, PubMed:18815062, PubMed:25339683, PubMed:25920558, PubMed:27659707, PubMed:33163980). Exists as two enzymatic forms that arise from alternative trafficking of a single protein precursor, one that is targeted to the endolysosomal compartment, whereas the other is released extracellularly (PubMed:20807762, PubMed:21098024, PubMed:9660788). However, in response to various forms of stress, lysosomal exocytosis may represent a major source of the secretory form (PubMed:12563314, PubMed:20530211, PubMed:20807762, PubMed:22573858, PubMed:9393854)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Effect of acid sphingomyelinase deficiency in type A Niemann-Pick disease on the transport of therapeutic nanocarriers across the blood-brain barrier., [RefSeq, PubMed]; In the lysosomes, converts sphingomyelin to ceramide (PubMed:20807762, PubMed:21098024). Plays an important role in the export of cholesterol from the intraendolysosomal membranes (PubMed:25339683). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol (PubMed:25339683). Modulates stress-induced apoptosis through the production of ceramide (PubMed:8706124)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Lacks residues that bind the cofactor Zn(2+) and has no enzyme activity., [UniProtKB, PubMed]; The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]., [RefSeq]; This form is generated following cleavage by CASP7 in the extracellular milieu in response to bacterial infection (PubMed:21157428). It shows increased ability to convert sphingomyelin to ceramide and promotes plasma membrane repair (By similarity). Plasma membrane repair by ceramide counteracts the action of gasdermin-D (GSDMD) perforin (PRF1) pores that are formed in response to bacterial infection (By similarity)., [UniProtKB, UniProtKB, PubMed]; When secreted, modulates cell signaling with its ability to reorganize the plasma membrane by converting sphingomyelin to ceramide (PubMed:12563314, PubMed:17303575, PubMed:20807762). Secreted form is increased in response to stress and inflammatory mediators such as IL1B, IFNG or TNF as well as upon infection with bacteria and viruses (PubMed:12563314, PubMed:20807762, PubMed:9393854). Produces the release of ceramide in the outer leaflet of the plasma membrane playing a central role in host defense (PubMed:12563314, PubMed:20807762, PubMed:9393854). Ceramide reorganizes these rafts into larger signaling platforms that are required to internalize P.aeruginosa, induce apoptosis and regulate the cytokine response in infected cells (PubMed:12563314). In wounded cells, the lysosomal form is released extracellularly in the presence of Ca(2+) and promotes endocytosis and plasma membrane repair (PubMed:20530211)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 1107, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 6, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K8M3;E9PKS3;P17406;Q13811;Q16837;Q16841", "ec_number_list": [ { "id": "3.1.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.12", "type": "external" }, { "id": "3.1.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.3", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004767 sphingomyelin phosphodiesterase activity;GO:0016798 hydrolase activity, acting on glycosyl bonds;GO:0061750 acid sphingomyelin phosphodiesterase activity;GO:0034480 phosphatidylcholine phospholipase C activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005768 endosome;GO:0005811 lipid droplet;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0034612 response to tumor necrosis factor;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "P17405-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15532-1", "uniprot_id": [ { "id": "SSXT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15532", "type": "external" } ], "mass": 45929.0, "length": 418, "protein_name": "Protein SSXT", "gene_name": "SS18", "organism": "Human", "refseq_name": "protein SSXT isoform 1", "refseq_ac": [ { "id": "NP_001007560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007560", "type": "external" } ], "gene_names_uniprotkb": "SS18; SSXT; SYT", "gene_names_refseq": "SMARCL1; SS18; SSXT; SYT", "protein_names_uniprotkb": "Protein SSXT; Protein SYT; Synovial sarcoma translocated to X chromosome protein", "protein_names_refseq": "SS18, nBAF chromatin remodeling complex subunit; protein SSXT isoform 1; protein SSXT; synovial sarcoma translocated to X chromosome protein; synovial sarcoma translocation, chromosome 18; synovial sarcoma, translocated to X chromosome", "tax_id": 9606, "disease": "synovial sarcoma (Disease Ontology:DOID:5485)", "pathway": " (hsa:6760); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933946); (R-HSA-9933947); (R-HSA-9934037)", "pathway_count": 7, "publication_count": 108, "publication_id_list": "10587587;11237011;11368913;11423977;11532965;11856727;11964381;12062444;12368262;1321344;1537333;1537334;15543135;15695812;15729346;15919756;16303920;17182843;17640523;17952075;18483556;18697795;18765789;18812475;19389701;19717472;21555454;22464331;22952240;23481700;23644491;23785148;24267888;24715725;25576301;25645385;25892735;26154972;26365797;26375851;26601204;26694611;26992070;27397612;28533407;29374058;29493099;29557506;30410026;30484775;30515787;30779550;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33100333;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34091760;34211107;34215745;34433824;34509645;34932366;35051231;35318648;35561310;35580127;35580925;36010968;36215666;36221318;36284347;36581221;36591871;37938771;38359823;38665916;38972355;39531497;7495284;7539744;7813420;7951320;8306979;8921401;9758418", "class_list": "", "function": "Appears to function synergistically with RBM14 as a transcriptional coactivator. Isoform 1 and isoform 2 function in nuclear receptor coactivation. Isoform 1 and isoform 2 function in general transcriptional coactivation. Component of SWI/SNF chromatin remodeling subcomplex GBAF that carries out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner (PubMed:29374058)., [UniProtKB, PubMed, PubMed]; Correlating SS18-SSX immunohistochemistry (IHC) with SS18 fluorescent in situ hybridization (FISH) in synovial sarcomas: a study of 36 cases., [RefSeq, PubMed]; Microcribriform Adenocarcinoma of Salivary Glands: A Unique Tumor Entity Characterized by an SS18::ZBTB7A Fusion., [RefSeq, PubMed]; SS18 regulates pluripotent-somatic transition through phase separation. Publication Status: Online-Only, [RefSeq, PubMed]; SS18-SSX Expression in a Contemporary Cohort of Primary Renal Synovial Sarcoma: A Multi-Institutional Experience of Fourteen Patients., [RefSeq, PubMed]; Undifferentiated Round Cell Sarcoma With CRTC1::SS18 Fusion: Expanding Clinicopathologic Features of a Rare Translocation Sarcoma With Prominent Desmoplastic Stroma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ95;Q16404;Q4VAX1;Q9BXC6", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0071564 npBAF complex;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "Q15532-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q71RG4-1", "uniprot_id": [ { "id": "TMUB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q71RG4", "type": "external" } ], "mass": 33788.0, "length": 321, "protein_name": "Transmembrane and ubiquitin-like domain-containing protein 2", "gene_name": "TMUB2", "organism": "Human", "refseq_name": "transmembrane and ubiquitin-like domain-containing protein 2 isoform b", "refseq_ac": [ { "id": "NP_001070142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070142", "type": "external" } ], "gene_names_uniprotkb": "TMUB2; FP2653; PRO4343", "gene_names_refseq": "FP2653; TMUB2", "protein_names_uniprotkb": "Transmembrane and ubiquitin-like domain-containing protein 2", "protein_names_refseq": "transmembrane and ubiquitin-like domain-containing protein 2 isoform b; transmembrane and ubiquitin-like domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79089)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;15498874;24715725;28228285;28832583;28834231;28904123;29242379;29393594;29632046;29786170;30315122;30484775;31844290;32157095;32265295;32350084;32387766;32502341;32938616;32983136;33592498;34087483;34171305;35051231;35251023;35561310;35580925;36010968;36241641;39302247", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KU81;Q8NDI2;Q9BPZ5;Q9HAG3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q71RG4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95352-1", "uniprot_id": [ { "id": "ATG7_HUMAN", "url": "https://www.uniprot.org/uniprot/O95352", "type": "external" } ], "mass": 77960.0, "length": 703, "protein_name": "Ubiquitin-like modifier-activating enzyme ATG7", "gene_name": "ATG7", "organism": "Human", "refseq_name": "ubiquitin-like modifier-activating enzyme ATG7 isoform b", "refseq_ac": [ { "id": "NP_001129503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129503", "type": "external" } ], "gene_names_uniprotkb": "ATG7; APG7L", "gene_names_refseq": "APG7-LIKE; APG7L; ATG7; GSA7; SCAR31", "protein_names_uniprotkb": "Ubiquitin-like modifier-activating enzyme ATG7; APG7-like; ATG12-activating enzyme E1 ATG7; Autophagy-related protein 7; Ubiquitin-activating enzyme E1-like protein; hAGP7", "protein_names_refseq": "APG7 autophagy 7-like; ATG12-activating enzyme E1 ATG7; hAGP7; ubiquitin-activating enzyme E1-like protein; ubiquitin-like modifier-activating enzyme ATG7 isoform b; ubiquitin-like modifier-activating enzyme ATG7", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); cardiac arrest (Disease Ontology:DOID:0060319); autosomal recessive spinocerebellar ataxia 31 (Disease Ontology:DOID:0070412); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); hypertension (Disease Ontology:DOID:10763); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); high grade glioma (Disease Ontology:DOID:3070); myocardial infarction (Disease Ontology:DOID:5844); paraplegia (Disease Ontology:DOID:607); nervous system disease (Disease Ontology:DOID:863); diabetic retinopathy (Disease Ontology:DOID:8947); degenerative disc disease (Disease Ontology:DOID:90)", "pathway": " (hsa:10533); (R-HSA-1632852); (R-HSA-6798695); (R-HSA-6802952); (R-HSA-983168); (R-HSA-9918485)", "pathway_count": 6, "publication_count": 136, "publication_id_list": "10233149;11062501;11096062;11237011;11337487;11350924;11825910;11890701;12646216;12682107;14734113;15098107;15187094;15224091;15224092;15507651;15571818;15630448;15838506;16303767;16595681;16849449;16954532;16963840;17618624;18266465;18321988;18439900;18662542;18974108;19028597;19124466;19211835;19322194;19352404;19452197;19489725;19590496;19851334;19855179;19874575;19898463;19940261;20059746;20068231;20526349;20543840;20713597;20921139;21177865;21205641;21258367;21383122;21424530;21460621;21819378;22170151;22223895;2261476;22682742;22745804;23084921;23202584;23386620;23481700;23583981;23650620;23658209;23685627;23727157;23884233;24074594;24135138;24275569;24345920;24715725;24747438;24954904;25204415;25484072;25568151;25576301;25907612;26043688;26056282;26212330;26468529;26992070;27832191;27862975;28904123;29242379;29393594;29610346;29742433;29769354;29786170;30315122;30429286;31154438;31720911;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33968037;34161705;34171305;34357683;34509645;35051231;35561310;35580925;37943659;38262267;38385083;38600522;38759738;7628435;8692836;9380723;9668046;9931503", "class_list": "", "function": "ATG7(2) Interacts With Metabolic Proteins and Regulates Central Energy Metabolism., [RefSeq, PubMed]; CircCUL3 drives malignant progression of cervical cancer by activating autophagy through sponge miR-223-3p upregulation of ATG7., [RefSeq, PubMed]; E1-like activating enzyme involved in the 2 ubiquitin-like systems required for cytoplasm to vacuole transport (Cvt) and autophagy. Activates ATG12 for its conjugation with ATG5 as well as the ATG8 family proteins for their conjugation with phosphatidylethanolamine. Both systems are needed for the ATG8 association to Cvt vesicles and autophagosomes membranes. Required for autophagic death induced by caspase-8 inhibition. Facilitates LC3-I lipidation with phosphatidylethanolamine to form LC3-II which is found on autophagosomal membranes (PubMed:34161705). Required for mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production. Modulates p53/TP53 activity to regulate cell cycle and survival during metabolic stress. Also plays a key role in the maintenance of axonal homeostasis, the prevention of axonal degeneration, the maintenance of hematopoietic stem cells, the formation of Paneth cell granules, as well as in adipose differentiation. Plays a role in regulating the liver clock and glucose metabolism by mediating the autophagic degradation of CRY1 (clock repressor) in a time-dependent manner (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; IGF1R stimulates autophagy, enhances viability, and promotes insulin secretion in pancreatic beta cells in gestational diabetes mellitus by upregulating ATG7., [RefSeq, PubMed]; ISG15 Promotes Progression and Gemcitabine Resistance of Pancreatic Cancer Cells Through ATG7. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4E170;E9PB95;Q7L8L0;Q9BWP2;Q9UFH4", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0019778 Atg12 activating enzyme activity;GO:0019779 Atg8 activating enzyme activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0034774 secretory granule lumen;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0015031 protein transport;GO:0043065 positive regulation of apoptotic process;GO:0051607 defense response to virus;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "O95352-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92485-1", "uniprot_id": [ { "id": "ASM3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92485", "type": "external" } ], "mass": 50814.0, "length": 455, "protein_name": "Acid sphingomyelinase-like phosphodiesterase 3b", "gene_name": "SMPDL3B", "organism": "Human", "refseq_name": "acid sphingomyelinase-like phosphodiesterase 3b isoform 2 precursor", "refseq_ac": [ { "id": "NP_001009568", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009568", "type": "external" } ], "gene_names_uniprotkb": "SMPDL3B; ASML3B; ASMLPD", "gene_names_refseq": "ASML3B; SMPDL3B", "protein_names_uniprotkb": "Acid sphingomyelinase-like phosphodiesterase 3b; 3.1.4.-; ASM-like phosphodiesterase 3b", "protein_names_refseq": "ASM-like phosphodiesterase 3b; acid sphingomyelinase-like phosphodiesterase 3b isoform 2 precursor; acid sphingomyelinase-like phosphodiesterase 3b", "tax_id": 9606, "disease": "", "pathway": " (hsa:27293)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11237011;26095358;26992070;31844290;32293077;32387766;32488085;32575490;33968037;34185709;34509645;34739556;35051231;35580925;36094323;38813495", "class_list": "", "function": "Lipid-modulating phosphodiesterase (PubMed:26095358). Active on the surface of macrophages and dendritic cells and strongly influences macrophage lipid composition and membrane fluidity. Acts as a negative regulator of Toll-like receptor signaling (By similarity). Has in vitro phosphodiesterase activity, but the physiological substrate is unknown (PubMed:26095358). Lacks activity with phosphocholine-containing lipids, but can cleave CDP-choline, and can release phosphate from ATP and ADP (in vitro) (By similarity)., [UniProtKB, PubMed, UniProtKB]; Modulation of radiation-induced damage of human glomerular endothelial cells by SMPDL3B., [RefSeq, PubMed]; Phosphodiesterase SMPDL3B Gene Expression as Independent Outcome Prediction Marker in Localized Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; SMPDL3B contributes to gastric adenocarcinoma cells progression by promoting the infiltration of M2 macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; SMPDL3b modulates radiation-induced DNA damage response in renal podocytes., [RefSeq, PubMed]; Sphingomyelin Phosphodiesterase Acid-Like 3b is Essential for Toll-Like Receptor 3 Signaling in Human Podocytes., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7ZB35;Q5T0Z0;Q96CB7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0008081 phosphoric diester hydrolase activity;GO:0004767 sphingomyelin phosphodiesterase activity;GO:0016798 hydrolase activity, acting on glycosyl bonds;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0098552 side of membrane;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0045087 innate immune response;GO:0050728 negative regulation of inflammatory response;GO:0034122 negative regulation of toll-like receptor signaling pathway;GO:0006685 sphingomyelin catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q92485-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53HC0-1", "uniprot_id": [ { "id": "CCD92_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53HC0", "type": "external" } ], "mass": 36961.0, "length": 331, "protein_name": "Coiled-coil domain-containing protein 92", "gene_name": "CCDC92", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 92 isoform 1", "refseq_ac": [ { "id": "NP_001291886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291886", "type": "external" } ], "gene_names_uniprotkb": "CCDC92", "gene_names_refseq": "CCDC92", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 92; Limkain beta-2", "protein_names_refseq": "coiled-coil domain-containing protein 92 isoform 1; coiled-coil domain-containing protein 92; limkain beta 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80212)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;19664995;19936222;22863007;27862975;28514659;28832583;29242379;29393594;29557506;29786170;30429286;30833945;31154438;31844290;31848261;32129703;32157095;32161166;32387766;32528005;32938616;32983136;33912179;33968037;34932366;35051231;35318648;35580925;37938771", "class_list": "", "function": "Interferon-stimulated protein that plays a role in innate immunity. Strongly inhibits ebolavirus transcription and replication. Forms a complex with viral RNA-bound nucleocapsid NP and thereby prevents the transport of NP to the cell surface., [UniProtKB, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KNQ0;Q9H697", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005814 centriole", "go_biological_process": "GO:0045087 innate immune response;GO:0050688 regulation of defense response to virus", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q53HC0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VYK3-1", "uniprot_id": [ { "id": "ECM29_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VYK3", "type": "external" } ], "mass": 204291.0, "length": 1845, "protein_name": "Proteasome adapter and scaffold protein ECM29", "gene_name": "ECPAS", "organism": "Human", "refseq_name": "proteasome adapter and scaffold protein ECM29 isoform 3", "refseq_ac": [ { "id": "NP_001351858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001351858", "type": "external" } ], "gene_names_uniprotkb": "ECPAS; ECM29; KIAA0368", "gene_names_refseq": "ECM29; ECPAS; KIAA0368", "protein_names_uniprotkb": "Proteasome adapter and scaffold protein ECM29; Ecm29 proteasome adapter and scaffold; Proteasome-associated protein ECM29 homolog", "protein_names_refseq": "ECM29 homolog, proteasome accessory protein; ecm29 proteasome adapter and scaffold; homolog of yeast Ecm29; proteasome adapter and scaffold protein ECM29 isoform 3; proteasome adapter and scaffold protein ECM29; proteasome-associated protein ECM29 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:23392)", "pathway_count": 1, "publication_count": 116, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15496406;18507432;19748539;20068231;20682791;21406692;22223895;22424782;22898188;23301498;23481700;24084648;24366607;24714562;24715725;25114211;25367160;25576301;25645385;25802875;25880248;26154972;26375851;26728094;26802743;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28821611;28832583;28834231;28860189;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30410026;30484775;30524438;30620550;30779550;30784271;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35251023;35289036;35318648;35580925;36010968;36215666;36241641;36284347;37074911;37217939;37938771", "class_list": "", "function": "Adapter/scaffolding protein that binds to the 26S proteasome, motor proteins and other compartment specific proteins. May couple the proteasome to different compartments including endosome, endoplasmic reticulum and centrosome. May play a role in ERAD and other enhanced proteolysis (PubMed:15496406). Promotes proteasome dissociation under oxidative stress (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Data suggest that the adapter protein ECM29 is the main proteasome-interacting protein responsible for oxidative stress-induced proteasome disassembly/remodeling; ECM29 appears to intrude on interaction between the 20S core particle and 19S regulatory particle in 26S proteasome, disrupting proteasome structure in response to oxidative stress., [RefSeq, PubMed]; Ecm29 is involved in the dissociation process of 26S proteasome, providing clue to analyse the mechanism of proteasomal degradation under various stress condition., [RefSeq, PubMed]; Ecm29 protein serves to couple the 26 S proteasome to secretory compartments engaged in quality control and to other sites of enhanced proteolysis, [RefSeq, PubMed]; Ecm29 serves as an adaptor for coupling 26 S proteasomes to specific cellular compartments., [RefSeq, PubMed]; The absence of Ecm29 enhanced TLR3 signaling, which was characterized by the increased abundance of the adaptor protein and E3 ubiquitin ligase tumor necrosis factor receptor-associated factor 3 Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A0A804HJA4;B3KXF2;O15074;Q8WU82", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0070628 proteasome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0036503 ERAD pathway;GO:0043248 proteasome assembly", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q5VYK3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13521-1", "uniprot_id": [ { "id": "SCG2_HUMAN", "url": "https://www.uniprot.org/uniprot/P13521", "type": "external" } ], "mass": 70941.0, "length": 617, "protein_name": "Secretogranin-2", "gene_name": "SCG2", "organism": "Human", "refseq_name": "secretogranin-2 precursor", "refseq_ac": [ { "id": "NP_003460", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003460", "type": "external" } ], "gene_names_uniprotkb": "SCG2; CHGC", "gene_names_refseq": "CHGC; EM66; SCG2; SN; SgII", "protein_names_uniprotkb": "Secretogranin-2; Chromogranin-C; Secretogranin II; SgII", "protein_names_refseq": "chromogranin-C; secretogranin-2 precursor; secretogranin-2; secretoneurin", "tax_id": 9606, "disease": "", "pathway": " (hsa:7857); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;16807684;17047378;17249697;17312271;17985932;19357184;23234360;24715725;2476804;2479552;25576301;26091039;2745426;29557506;31154438;31844290;33968037;34185709;36241641;36284347;37023080;37848672;37933640;37938771;38184555;38261566;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9654353;9709957;9733769;9786878;9922210", "class_list": "", "function": "Circulating secretoneurin level reflects angiographic coronary collateralization in stable angina patients with chronic total occlusion. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of secretoneurin as a potential biomarker of brain injury in very preterm infants: A pilot study. Publication Status: Online-Only, [RefSeq, PubMed]; Neuroendocrine protein of the granin family that regulates the biogenesis of secretory granules., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Prognostic value of plasma secretoneurin concentration in patients with heart failure with reduced ejection fraction in one-year follow-up., [RefSeq, PubMed]; Promoting effect and immunologic role of secretogranin II on bladder cancer progression via regulating MAPK and NF-kappaB pathways., [RefSeq, PubMed]; The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Studies in rodents suggest that the full-length protein, secretogranin II, is involved in the packaging or sorting of peptide hormones and neuropeptides into secretory vesicles. The full-length protein is cleaved to produce the active peptide secretoneurin, which exerts chemotaxic effects on specific cell types, and EM66, whose function is unknown. [provided by RefSeq, Jul 2008]., [RefSeq]; [High expression of secretogranin II increases oxaliplatin resistance of colorectal cancer cells]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R662;Q53T11;Q8TBH3", "ec_number_list": [], "go_molecular_function": "GO:0042056 chemoattractant activity;GO:0005125 cytokine activity", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0030141 secretory granule;GO:0005576 extracellular region", "go_biological_process": "GO:0001525 angiogenesis;GO:0006954 inflammatory response;GO:0035556 intracellular signal transduction;GO:0000165 MAPK cascade;GO:0001937 negative regulation of endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P13521-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVW4-1", "uniprot_id": [ { "id": "CDKL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVW4", "type": "external" } ], "mass": 67514.0, "length": 592, "protein_name": "Cyclin-dependent kinase-like 3", "gene_name": "CDKL3", "organism": "Human", "refseq_name": "cyclin-dependent kinase-like 3 isoform 1", "refseq_ac": [ { "id": "NP_001107047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107047", "type": "external" } ], "gene_names_uniprotkb": "CDKL3; NKIAMRE", "gene_names_refseq": "CDKL3; NKIAMRE", "protein_names_uniprotkb": "Cyclin-dependent kinase-like 3; 2.7.11.22; Serine/threonine-protein kinase NKIAMRE", "protein_names_refseq": "cyclin-dependent kinase-like 3 isoform 1; serine-threonine protein kinase NKIAMRE", "tax_id": 9606, "disease": "", "pathway": " (hsa:51265)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;12927787;17344846;17945021;18412109;23481700;24715725;25645385;29420175;29632711;31844290;32157095;32357974;33232736;33912179;34097336;34427098;35051231;36630073", "class_list": "", "function": "CDKL3 Promotes Non-small Cell Lung Cancer by Suppressing Autophagy Via Activation of PI3K/Akt/mTOR Pathway., [RefSeq, PubMed]; Cdkl3 transfected in anchorage-independent (suspension) HeLa cells overexpressed relative to attached cells and lead to elevated proliferation and faster transition G0/G1 phases to S phase relative to controls. Same in two HEK-293 and a CHO cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; CircTP53 promotes colorectal cancer by acting as a miR-876-3p sponge to increase cyclin-dependent kinase-like 3 expression. Erratum:[Cell Signal. 2022 Sep;97:110392. doi: 10.1016/j.cellsig.2022.110392. PMID: 35764039], [RefSeq, PubMed]; Cyclin-dependent kinase like 3 promotes triple-negative breast cancer progression via inhibiting the p53 signaling pathway., [RefSeq, PubMed]; Data suggest that the CDKL3 gene is a strong candidate for nonsyndromal autosomal dominant mild mental retardation, [RefSeq, PubMed]; Identification of CDKL3 as a critical regulator in development of glioma through regulating RRM2 and the JNK signaling pathway., [RefSeq, PubMed]; NKIAMRE is a member of a conserved family of kinases with homology to both MAP kinases and cyclin-dependent kinases, [RefSeq, PubMed]; The protein encoded by this gene is a member of cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This gene was identified as a gene absent in leukemic patients with chromosome 5q deletion. This loss may be an important determinant of dysmyelopoiesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQA0;D3DQA1;Q9P114", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0036211 protein modification process;GO:0050775 positive regulation of dendrite morphogenesis;GO:0097484 dendrite extension;GO:0030517 negative regulation of axon extension", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8IVW4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSB4-1", "uniprot_id": [ { "id": "ATGA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSB4", "type": "external" } ], "mass": 25003.0, "length": 218, "protein_name": "Autophagy-related protein 101", "gene_name": "ATG101", "organism": "Human", "refseq_name": "autophagy-related protein 101", "refseq_ac": [ { "id": "NP_001092143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092143", "type": "external" } ], "gene_names_uniprotkb": "ATG101; C12orf44; PP894", "gene_names_refseq": "ATG101; C12orf44", "protein_names_uniprotkb": "Autophagy-related protein 101", "protein_names_refseq": "Atg13-interacting protein; autophagy-related protein 101", "tax_id": 9606, "disease": "colon cancer (Disease Ontology:DOID:219); cholangiocarcinoma (Disease Ontology:DOID:4947); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:60673); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "11096062;11237011;11825910;15187094;15498874;16963840;17618624;18321988;18439900;19211835;19287211;19322194;19590496;19597335;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22544926;22682742;23202584;23481700;23685627;23727157;23884233;24714562;24747438;24954904;25484072;25568151;25576301;25645385;26154972;26236954;26299944;26768311;26811146;26992070;27600516;27846572;27893789;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29786170;29789417;30315122;30429286;30524438;31217245;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302799;37394799;37567770;7628435", "class_list": "", "function": "ATG101-related signature predicts prognosis and therapeutic option in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation., [UniProtKB, PubMed, PubMed]; Metamorphosis by ATG13 and ATG101 in human autophagy initiation., [RefSeq, PubMed]; The identification of the novel protein, Atg101, and the validation of Atg13 and Atg101 as ULK1-interacting proteins, suggests an Atg1 complex is involved in the induction of macroautophagy in mammalian cells., [RefSeq, PubMed]; The role of the HORMA domain proteins ATG13 and ATG101 in initiating autophagosome biogenesis. Review article, [RefSeq, PubMed]; These data suggest that Atg101 is a novel Atg protein that functions together with ULK, Atg13 and FIP200., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9HAE2;Q9HBN1", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0000407 phagophore assembly site;GO:1990316 Atg1/ULK1 kinase complex", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0008285 negative regulation of cell population proliferation;GO:0010508 positive regulation of autophagy;GO:1903059 regulation of protein lipidation;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9BSB4-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYN0-1", "uniprot_id": [ { "id": "ATG4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYN0", "type": "external" } ], "mass": 45378.0, "length": 398, "protein_name": "Cysteine protease ATG4A", "gene_name": "ATG4A", "organism": "Human", "refseq_name": "cysteine protease ATG4A isoform c", "refseq_ac": [ { "id": "NP_001308216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308216", "type": "external" } ], "gene_names_uniprotkb": "ATG4A; APG4A; AUTL2", "gene_names_refseq": "APG4A; ATG4A; AUTL2; HsAPG4A", "protein_names_uniprotkb": "Cysteine protease ATG4A; 3.4.22.-; AUT-like 2 cysteine endopeptidase; Autophagin-2; Autophagy-related cysteine endopeptidase 2; Autophagy-related protein 4 homolog A; HsAPG4A; hAPG4A", "protein_names_refseq": "APG4 autophagy 4 homolog A; ATG4 autophagy related 4 homolog A; AUT-like 2, cysteine endopeptidase; autophagin 2; autophagy-related cysteine endopeptidase 2; autophagy-related protein 4 homolog A; cysteine protease ATG4A isoform c; cysteine protease ATG4A; hAPG4A", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:115201); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "11096062;11237011;11825910;12446702;12473658;15169837;15187094;16963840;17347651;17618624;17924679;18321988;18439900;19211835;19322194;19590496;19855179;19898463;20059746;20713597;20819778;20921139;21177865;21205641;21245471;21258367;21383122;21460621;21819378;22170151;22302004;22682742;23202584;23481700;23685627;23727157;23884233;24747438;24954904;25484072;25568151;25576301;28287329;29458288;30779550;31154438;31315929;31844290;32157095;32357974;32732290;32938616;33298915;33592498;33773106;33909989;33912179;33968037;35088889;35443024;35580925;36010968;36719634;37494842;37701987;7628435", "class_list": "", "function": "ATG4A regulates human erythroid maturation and mitochondrial clearance., [RefSeq, PubMed]; Alterations of ATG4A and LC3B in neurons derived from Alzheimer's disease patients., [RefSeq, PubMed]; Association of ATG4A single nucleotide polymorphism rs807185 on risk of microscopic polyangiitis in Chinese population., [RefSeq, PubMed]; Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. [provided by RefSeq, Mar 2016]., [RefSeq]; Cysteine protease that plays a key role in autophagy by mediating both proteolytic activation and delipidation of ATG8 family proteins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; HsApg4A cleaves the COOH terminus of GATE-16, [RefSeq, PubMed]; Knockdown of ATG4A inhibits breast cancer progression and promotes tamoxifen chemosensitivity by suppressing autophagy., [RefSeq, PubMed]; Loss of ATG4B and ATG4A results in two-stage cell cycle defects in pancreatic ductal adenocarcinoma cells., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; The cysteine protease HsAtg4 is identified as a direct target for oxidation by hydrogen peroxide, and a cysteine residue located near the HsAtg4 catalytic site as critical for this regulation. Erratum:[EMBO J. 2019 May 15;38(10):e101812. doi: 10.15252/embj.2019101812. PMID: 31092559], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NCH2;B2RAZ7;D3DUY0;O95534;Q5JYY9;Q5JYZ0;Q86VE5;Q96KQ0;Q96KQ1", "ec_number_list": [ { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity;GO:0019786 protein-phosphatidylethanolamide deconjugating activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006508 proteolysis;GO:0006629 lipid metabolic process;GO:0015031 protein transport;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q8WYN0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99615-1", "uniprot_id": [ { "id": "DNJC7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99615", "type": "external" } ], "mass": 56441.0, "length": 494, "protein_name": "DnaJ homolog subfamily C member 7", "gene_name": "DNAJC7", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 7 isoform 2", "refseq_ac": [ { "id": "NP_001138238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138238", "type": "external" } ], "gene_names_uniprotkb": "DNAJC7; TPR2; TTC2", "gene_names_refseq": "DJ11; DJC7; DNAJC7; TPR2; TTC2", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 7; TPR repeat protein 2; Tetratricopeptide repeat protein 2", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 7; TPR repeat protein 2; dnaJ homolog subfamily C member 7 isoform 2; dnaJ homolog subfamily C member 7; tetratricopeptide repeat domain 2; tetratricopeptide repeat protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7266); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 139, "publication_id_list": "10567422;10954706;11237011;11573955;11747420;11875071;12042320;12853476;12917326;12974469;14573755;15104674;15364926;15592455;15802566;1586970;16278218;1754405;18235501;18235502;18550409;18620420;19229036;19914676;21136679;21993680;22465953;22541429;22735644;22898188;22940245;23186163;23301498;23349863;23481700;23783831;24366607;24714562;24715725;25418920;25502872;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26758079;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34357683;34405274;34433824;34509645;34725712;34932366;35051231;35154160;35251023;35318648;35456894;35561310;35580925;36010968;36215666;36284347;36581221;37870677;37938771;38665916;40914422;7585962;8721986;8836031;8946918;9305631;9873016;9920933", "class_list": "", "function": "Acts as a co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes. Recruits NR1I3 to the cytoplasm (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Data show that Tpr2 associates with Hsp90 and Hsp70 complexes, promoted the accumulation of Hsp70 in PR heterocomplexes in the presence of Hsp90. Thus, Tpr2 has the potential to regulate PR chaperoning., [RefSeq, PubMed]; DnaJC7 in Amyotrophic Lateral Sclerosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Rare DNAJC7 Variants May Play a Minor Role in Chinese Patients with ALS., [RefSeq, PubMed]; TPR2 combines two TPR domains and a J domain to regulate the Hsp70/Hsp90 chaperone system., [RefSeq, PubMed]; This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the chaperone proteins heat shock proteins 70 and 90 in an ATP-dependent manner and may function as a co-chaperone. Pseudogenes of this gene are found on chromosomes 1 and 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z784", "ec_number_list": [], "go_molecular_function": "GO:0031072 heat shock protein binding;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:1900034 regulation of cellular response to heat;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q99615-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUJ2-1", "uniprot_id": [ { "id": "HNRL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUJ2", "type": "external" } ], "mass": 95739.0, "length": 856, "protein_name": "Heterogeneous nuclear ribonucleoprotein U-like protein 1", "gene_name": "HNRNPUL1", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein U-like protein 1 isoform d", "refseq_ac": [ { "id": "NP_001308137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308137", "type": "external" } ], "gene_names_uniprotkb": "HNRNPUL1; E1BAP5; HNRPUL1", "gene_names_refseq": "E1B-AP5; E1BAP5; HNRNPUL1; HNRPUL1", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein U-like protein 1; Adenovirus early region 1B-associated protein 5; E1B-55 kDa-associated protein 5; E1B-AP5", "protein_names_refseq": "E1B 55kDa associated protein 5; E1B-55 kDa-associated protein 5; adenovirus early region 1B-associated protein 5; heterogeneous nuclear ribonucleoprotein U-like protein 1 isoform d; heterogeneous nuclear ribonucleoprotein U-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11100); (R-HSA-9918481)", "pathway_count": 2, "publication_count": 151, "publication_id_list": "10668806;11237011;11513728;11747608;12489984;14519844;14762106;15084397;15144186;15242333;15302935;15907477;16055720;16964243;17074750;17081983;17693683;18220336;18452278;18669648;19413330;19664994;19664995;19690332;20058876;20068231;20112406;20230923;21406692;21872626;21911577;22121020;22645359;23186163;23481700;23719902;24129315;24275569;24714562;24715725;25114211;25218447;25418920;25576301;25645385;25755297;25772364;25810538;25880248;25892735;26024233;26092250;26154972;26375851;26728094;26811146;26992070;27108190;27397612;27600516;27655845;27846572;27920218;28228285;28510447;28514659;28832583;28834231;28855257;28904123;29237092;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29902443;30315122;30397120;30410026;30524438;30599162;31217245;31373491;31492838;31844290;32119511;32157095;32357974;32387766;32502341;32574038;32897882;32938616;32983136;33043033;33123756;33177556;33214551;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34405274;34509645;34561969;34688610;34725712;35051231;35138101;35215846;35254053;35289036;35318648;35429914;35561310;35580925;35705054;35982897;36010968;36215666;36284347;36581221;37217939;37938771;38665916;39531497;40136647;40307207;40596516;40914422;41018975;9733834", "class_list": "", "function": "Acts as a basic transcriptional regulator. Represses basic transcription driven by several virus and cellular promoters. When associated with BRD7, activates transcription of glucocorticoid-responsive promoter in the absence of ligand-stimulation. Also plays a role in mRNA processing and transport. Binds avidly to poly(G) and poly(C) RNA homopolymers in vitro., [UniProtKB, PubMed, PubMed]; HNRNPUL1 inhibits cisplatin sensitivity of esophageal squamous cell carcinoma through regulating the formation of circMAN1A2., [RefSeq, PubMed]; Human E1B-AP5 binds to adenovirus E1B-55kDa protein., [RefSeq, PubMed]; RNA-binding protein hnRNP UL1 binds kappaB sites to attenuate NF-kappaB-mediated inflammation., [RefSeq, PubMed]; The Novel Role of hnRNP UL1 in Human Cell Nucleoli. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B3KMW7;O76022;Q6ZSZ0;Q7L8P4;Q8N6Z4;Q96G37;Q9HAL3;Q9UG75", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0045202 synapse;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006396 RNA processing;GO:0009615 response to virus;GO:0000380 alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q9BUJ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99966-1", "uniprot_id": [ { "id": "CITE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99966", "type": "external" } ], "mass": 19896.0, "length": 193, "protein_name": "Cbp/p300-interacting transactivator 1", "gene_name": "CITED1", "organism": "Human", "refseq_name": "cbp/p300-interacting transactivator 1 isoform 2", "refseq_ac": [ { "id": "NP_001138357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138357", "type": "external" } ], "gene_names_uniprotkb": "CITED1; MSG1", "gene_names_refseq": "CITED1; MSG1", "protein_names_uniprotkb": "Cbp/p300-interacting transactivator 1; Melanocyte-specific protein 1", "protein_names_refseq": "Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1; cbp/p300-interacting transactivator 1 isoform 2; melanocyte-specific gene 1; melanocyte-specific protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4435); (R-HSA-8866907); (R-HSA-9018519)", "pathway_count": 3, "publication_count": 148, "publication_id_list": "10.1101/2023.09.13.557529;10500157;10722728;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11443112;11452016;11581164;11682626;11694877;11744733;12498683;12586840;12612073;12959972;14631847;14675539;15001666;15276198;15282324;15343269;15345050;15514030;15548692;15986123;16009131;16046058;16087863;16113099;1630819;16698963;16864582;16980581;17013392;17277772;17463000;17495528;17510434;17637753;17666587;17690249;18187655;18219272;18256232;18322535;18358809;18476782;18533032;18669648;18762174;18805503;19001364;19020303;19054851;19098913;19274700;19295514;19321454;19383337;19718048;1998122;2010091;20219941;20220130;20498280;20570965;20682797;21106759;21151129;21172805;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22265404;22492511;22545144;22704330;23145106;23172872;23192763;23303788;23403292;23435229;23723241;23906331;24167369;24371278;24715725;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25633194;25663755;25674852;25728767;26056233;26153859;26204489;26462610;26479350;27062924;27886276;28539435;2919170;3045126;3281094;33141586;3498214;35051231;3677090;37322548;37807325;38190845;38997708;7559524;7935485;7937828;8195246;8197458;8419924;8876171;8901575;9201922;9338790;9388265;9611253;9671459;9707553;9731700", "class_list": "", "function": "CITED1 as a marker of favourable outcome in anti-endocrine treated, estrogen-receptor positive, lymph-node negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CITED1 expression in odontogenic cysts. Publication Status: Online-Only, [RefSeq, PubMed]; Effect of silencing CITED1 gene to regulate PI3K/AKT pathway on the biological function of PTC cells and its mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Roles and signaling pathways of CITED1 in tumors: overview and novel insights. Review article, [RefSeq, PubMed]; This gene encodes a member of the CREB-binding protein/p300-interacting transactivator with Asp/Glu-rich C-terminal domain (CITED) family of proteins. The encoded protein, also known as melanocyte-specific gene 1, may function as a transcriptional coactivator and may play a role in pigmentation of melanocytes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]., [RefSeq]; Transcriptional coactivator of the p300/CBP-mediated transcription complex. Enhances SMAD-mediated transcription by strengthening the functional link between the DNA-binding SMAD transcription factors and the p300/CBP transcription coactivator complex. Stimulates estrogen-dependent transactivation activity mediated by estrogen receptors signaling; stabilizes the interaction of estrogen receptor ESR1 and histone acetyltransferase EP300. Positively regulates TGF-beta signaling through its association with the SMAD/p300/CBP-mediated transcriptional coactivator complex. Induces transcription from estrogen-responsive promoters and protection against cell death. Potentiates EGR2-mediated transcriptional activation activity from the ERBB2 promoter. Acts as an inhibitor of osteoblastic mineralization through a cAMP-dependent parathyroid hormone receptor signaling. May play a role in pigmentation of melanocytes. Associates with chromatin to the estrogen-responsive TGF-alpha promoter region in a estrogen-dependent manner., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5BU50;B5BUI2", "ec_number_list": [], "go_molecular_function": "GO:0050693 LBD domain binding;GO:0070410 co-SMAD binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070669 response to interleukin-2;GO:0071104 response to interleukin-9;GO:0071105 response to interleukin-11;GO:0071559 response to transforming growth factor beta;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q99966-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW61-1", "uniprot_id": [ { "id": "DDA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW61", "type": "external" } ], "mass": 11835.0, "length": 102, "protein_name": "DET1- and DDB1-associated protein 1", "gene_name": "DDA1", "organism": "Human", "refseq_name": "DET1- and DDB1-associated protein 1", "refseq_ac": [ { "id": "NP_076955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076955", "type": "external" } ], "gene_names_uniprotkb": "DDA1; C19orf58; PCIA1", "gene_names_refseq": "C19orf58; DDA1; PCIA1", "protein_names_uniprotkb": "DET1- and DDB1-associated protein 1; PCIA-1; Placenta cross-immune reaction antigen 1", "protein_names_refseq": "DET1- and DDB1-associated protein 1; cross-immune reaction antigen PCIA1; placenta cross-immune reaction antigen 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79016); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 140, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17452440;17497243;17557237;17785452;18093314;18206966;18669648;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19295130;19321346;19617556;19651622;19748355;20068231;20166139;21406692;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23186163;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24275569;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25880248;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;28115426;28218747;28302793;28437394;28832583;28904123;29153394;29242379;29393594;29437277;29557506;30315122;30410026;30564455;30610225;31686031;31693891;31693911;31819272;31844290;32005965;32284348;32357974;33444648;33592498;33912179;33968037;34932366;9790970;9887101;9891082", "class_list": "", "function": "Cells depleted of Dda1 spontaneously accumulated double-stranded DNA breaks in a similar way to Cul4A-, Cul4B- or Wdr23-depleted cells, indicating that Dda1 interacts physically and functionally with cullin-RING E3 ligases complexes., [RefSeq, PubMed]; Functions as a component of numerous distinct DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:17452440, PubMed:28302793, PubMed:28437394, PubMed:31686031, PubMed:31819272). In the DCX complexes, acts as a scaffolding subunit required to stabilize the complex (PubMed:31686031, PubMed:31819272)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; PCIA1 gene expression correlates with tumor formation, invasion and metastasis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0080008 Cul4-RING E3 ubiquitin ligase complex", "go_biological_process": "GO:0000209 protein polyubiquitination;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0032814 regulation of natural killer cell activation", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q9BW61-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969F0-1", "uniprot_id": [ { "id": "FATE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969F0", "type": "external" } ], "mass": 20712.0, "length": 183, "protein_name": "Fetal and adult testis-expressed transcript protein", "gene_name": "FATE1", "organism": "Human", "refseq_name": "fetal and adult testis-expressed transcript protein", "refseq_ac": [ { "id": "NP_149076", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149076", "type": "external" } ], "gene_names_uniprotkb": "FATE1; FATE", "gene_names_refseq": "CT43; FATE1; FATE", "protein_names_uniprotkb": "Fetal and adult testis-expressed transcript protein; CT43; Cancer/testis antigen 43; Tumor antigen BJ-HCC-2", "protein_names_refseq": "BJ-HCC-2 antigen; cancer/testis antigen 43; fetal and adult testis-expressed transcript protein; tumor antigen BJ-HCC-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:89885)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;11694338;12811541;12865919;26567849;27402544;31036566", "class_list": "", "function": "In patients with ACC, FATE1 expression in their tumor is inversely correlated with their overall survival. the ER-mitochondria uncoupling activity of FATE1 is harnessed by cancer cells to escape apoptotic death and resist the action of chemotherapeutic drugs., [RefSeq, PubMed]; Involved in the regulation of endoplasmic reticulum (ER)-mitochondria coupling. Negatively regulates the ER-mitochondria distance and Ca(2+) transfer from ER to mitochondria possibly implicating it in the regulation of apoptosis (PubMed:27402544). May collaborate with RNF183 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849)., [UniProtKB, PubMed, PubMed]; Study reports that EWSR1-FLI1 directly activates the anomalous expression of FATE1 in Ewing sarcoma. FATE1 is essential for Ewing sarcoma survival through the destabilization of BNIP3L, a poorly characterized BH3-only protein that is toxic to Ewing sarcoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cancer-testis antigen that is highly expressed in hepatocellular carcinomas and other tumors and weakly expressed in normal tissues except testis. The protein is strongly expressed in spermatogonia, primary spermatocytes, and Sertoli cells in seminiferous tubules. This protein may have a role in the control of early testicular differentiation and cell proliferation. [provided by RefSeq, Jan 2010]., [RefSeq]; This study has shown that only 1.4% of infertile men have mutations in the FATE gene, and that some of these mutations do not singly cause infertility., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0044233 mitochondria-associated endoplasmic reticulum membrane contact site", "go_biological_process": "GO:0051562 negative regulation of mitochondrial calcium ion concentration;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q969F0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q494U1-1", "uniprot_id": [ { "id": "PKHN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q494U1", "type": "external" } ], "mass": 66409.0, "length": 611, "protein_name": "Pleckstrin homology domain-containing family N member 1", "gene_name": "PLEKHN1", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family N member 1 isoform b", "refseq_ac": [ { "id": "NP_001153656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153656", "type": "external" } ], "gene_names_uniprotkb": "PLEKHN1; CLPABP", "gene_names_refseq": "CLPABP; PLEKHN1", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family N member 1; Cardiolipin and phosphatidic acid-binding protein; PH domain-containing family N member 1", "protein_names_refseq": "PH domain-containing family N member 1; cardiolipin and phosphatidic acid-binding protein; pleckstrin homology domain-containing family N member 1 isoform b; pleckstrin homology domain-containing family N member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84069)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11230166;11237011;18191643;18669648;23186163;25043870;26758079;27616329;28832583;29180010;29531808;32938616;33968037;34357683;35051231;35580925", "class_list": "", "function": "Controls the stability of the leptin mRNA harboring an AU-rich element (ARE) in its 3' UTR, in cooperation with the RNA stabilizer ELAVL1 (PubMed:29180010). Decreases the stability of the leptin mRNA by antagonizing the function of ELAVL1 by inducing its atypical recruitment from the nucleus to the cytosol (By similarity). Binds to cardiolipin (CL), phosphatidic acid (PA), phosphatidylinositol 4-phosphate (PtdIns(4)P) and phosphatidylserine (PS) (PubMed:18191643). Promotes apoptosis by enhancing BAX-BAK hetero-oligomerization via interaction with BID in colon cancer cells (By similarity) (PubMed:29531808)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q494U2;Q5SV98;Q9H0M7", "ec_number_list": [], "go_molecular_function": "GO:0001786 phosphatidylserine binding;GO:1901981 phosphatidylinositol phosphate binding;GO:0070300 phosphatidic acid binding;GO:1901612 cardiolipin binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0001666 response to hypoxia;GO:0061158 3'-UTR-mediated mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q494U1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06732-1", "uniprot_id": [ { "id": "KCRM_HUMAN", "url": "https://www.uniprot.org/uniprot/P06732", "type": "external" } ], "mass": 43101.0, "length": 381, "protein_name": "Creatine kinase M-type", "gene_name": "CKM", "organism": "Human", "refseq_name": "creatine kinase M-type", "refseq_ac": [ { "id": "NP_001815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001815", "type": "external" } ], "gene_names_uniprotkb": "CKM; CKMM", "gene_names_refseq": "CKMM; CKM; CPK-M; M-CK", "protein_names_uniprotkb": "Creatine kinase M-type; 2.7.3.2; CPK-M; Creatine kinase M chain; Creatine phosphokinase M-type; M-CK", "protein_names_refseq": "creatine kinase M chain; creatine kinase M-type; creatine kinase, muscle; creatine phosphokinase M-type", "tax_id": 9606, "disease": "left ventricular failure (Disease Ontology:DOID:0051064)", "pathway": " (hsa:1158); (R-HSA-71288)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10089465;11555793;12889669;15044463;1690725;16981706;2324105;23271734;25576301;25645385;26768311;2903158;2914937;29242379;29314611;29557506;3031982;31844290;32157095;32938616;32983136;33392160;33554956;33968037;34680894;34941118;35138101;35251023;35580925;36215666;36241641;36284347;3778496;7945388;8651275;9148748;9218780;9722522", "class_list": "", "function": "Acetylation of muscle creatine kinase negatively impacts high-energy phosphotransfer in heart failure. Publication Status: Online-Only, [RefSeq, PubMed]; CKM Gene rs8111989 Polymorphism and Power Athlete Status. Publication Status: Online-Only, [RefSeq, PubMed]; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa., [UniProtKB, UniProtKB]; The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of serum creatine kinase levels in anterior cervical spinal surgery: Change trends and risk factors., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96QL9", "ec_number_list": [ { "id": "2.7.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.3.2", "type": "external" } ], "go_molecular_function": "GO:0004111 creatine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol", "go_biological_process": "GO:0046314 phosphocreatine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P06732-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKL6-1", "uniprot_id": [ { "id": "PPCT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKL6", "type": "external" } ], "mass": 24843.0, "length": 214, "protein_name": "Phosphatidylcholine transfer protein", "gene_name": "PCTP", "organism": "Human", "refseq_name": "phosphatidylcholine transfer protein isoform 2", "refseq_ac": [ { "id": "NP_001095872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095872", "type": "external" } ], "gene_names_uniprotkb": "PCTP; STARD2", "gene_names_refseq": "PC-TP; PCTP; STARD2", "protein_names_uniprotkb": "Phosphatidylcholine transfer protein; PC-TP; START domain-containing protein 2; StAR-related lipid transfer protein 2; StARD2", "protein_names_refseq": "START domain-containing protein 2; StAR-related lipid transfer (START) domain containing 2; phosphatidylcholine transfer protein isoform 2; stAR-related lipid transfer protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:58488); (R-HSA-1483191); (R-HSA-77289)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10100195;10191259;10500206;10542325;10677542;10893425;11068039;11237011;11420179;11696000;11698453;11983415;12055623;12216837;12221122;12882974;14973250;15175005;15638818;15715662;15911624;16362076;16423998;16934754;16940157;17007874;17158099;17561512;17704541;17762044;17953517;18268358;18694939;19170545;19913121;19915674;20338778;20470824;21237683;21926997;22465940;22586271;22871024;23186163;23328280;23700546;23901139;24080521;24732803;24828044;25002576;26005868;26048993;26290611;26585945;26945070;26992070;28228285;28251237;28821867;3057511;31844290;31848261;32350084;32387766;32938616;33091337;33770537;33968037;34561969;35051231;35580925;4721607;8241273;9593753", "class_list": "", "function": "Catalyzes the transfer of phosphatidylcholine between membranes. Binds a single lipid molecule., [UniProtKB, PubMed]; Crystal structures of human PC-TP in complex with dilinoleoyl-PtdCho or palmitoyl-linoleoyl-PtdCho reveal that a single well-ordered PtdCho molecule occupies a centrally located tunnel, [RefSeq, PubMed]; Identified the variant rs2912553 as contributing to racially differential expression of PCTP., [RefSeq, PubMed]; Mutations in PCTP gene is associated with prostate cancer, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PCTP contributes to human platelet activation by enhancing dense granule secretion., [RefSeq, PubMed]; Yeast two-hybrid screening using libraries prepared from mouse liver and embryo identified Them2 (thioesterase superfamily member 2) and the homeodomain transcription factor Pax3 (paired box gene 3), respectively, as PC-TP-interacting proteins., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BSC9;Q9UIT3;Q9UKW7", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0031210 phosphatidylcholine binding;GO:0008525 phosphatidylcholine transporter activity;GO:0008289 lipid binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0006869 lipid transport;GO:0006656 phosphatidylcholine biosynthetic process;GO:0015914 phospholipid transport;GO:0120163 negative regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9UKL6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99963-1", "uniprot_id": [ { "id": "SH3G3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99963", "type": "external" } ], "mass": 39285.0, "length": 347, "protein_name": "Endophilin-A3", "gene_name": "SH3GL3", "organism": "Human", "refseq_name": "endophilin-A3 isoform b", "refseq_ac": [ { "id": "NP_001288037", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288037", "type": "external" } ], "gene_names_uniprotkb": "SH3GL3; CNSA3; SH3D2C", "gene_names_refseq": "CNSA3; EEN-B2; HsT19371; SH3D2C; SH3GL3; SH3P13", "protein_names_uniprotkb": "Endophilin-A3; EEN-B2; Endophilin-3; SH3 domain protein 2C; SH3 domain-containing GRB2-like protein 3", "protein_names_refseq": "SH3 domain containing GRB2 like endophilin A3; SH3 domain protein 2C; SH3 domain-containing GRB2-like protein 3; SH3-domain GRB2-like 3; endophilin-3; endophilin-A3 isoform b; endophilin-A3", "tax_id": 9606, "disease": "", "pathway": " (hsa:6457); (R-HSA-182971); (R-HSA-6807004); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8875360); (R-HSA-9031628)", "pathway_count": 7, "publication_count": 393, "publication_id_list": "10097102;10203854;10381005;10436022;10514377;10535736;10542231;10559856;10559861;10559924;10567358;10611221;10611312;10613896;10625686;10652316;10656257;10734128;10766823;10769163;10826704;10872467;10882540;10953014;10983987;10984481;11018254;11027551;11071885;11076969;11081636;11082044;11231140;11237011;11239472;11247302;11280768;11331872;11343657;11454741;11470803;11516654;11517213;11532990;11567222;11577110;11588219;11741535;11755530;11823423;11840323;11877457;11877461;11889126;11894095;11894096;11919637;11927540;11956230;11988742;12057195;12072436;12086608;12213833;12218189;12221107;12234920;12234931;12244174;12399542;12429842;12447393;12451172;12464600;12475979;12511643;12551915;12593795;12593796;12686592;12717448;12847086;12944396;12952949;12958364;1317852;1377233;14505571;14522948;14555962;14581451;14597720;14617351;14622578;14622579;14662753;14726597;14969744;14985334;15021893;15102911;15117950;15123609;15134832;15161978;15252009;15260957;15318165;15339664;1535555;15449318;15465819;15473838;15475003;15502812;15502813;15542842;15620361;15649145;15671180;15701692;1570299;15703209;15728179;15733869;15802264;15828871;15836632;15880109;15895077;15916959;15919751;15962011;16034366;16103228;16113677;16136673;16159959;16187211;16215232;16221685;16227611;16260776;16287845;16326391;16339507;16407550;16407834;16410077;16459302;16460808;16484497;16516836;16574654;16707488;16723738;16732277;16798879;16880396;16903783;17018281;17035995;17088210;17088211;17088212;17158794;17178829;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17632064;17662939;17681954;17713526;17762867;17765681;17898216;17978091;18032517;18056528;18088355;18093523;18160048;18166656;18199683;1833716;18388313;18456662;1847920;18524893;18602463;1861162;18775314;18790740;18819912;18819921;18981233;19054389;19061646;19092055;19109251;19116276;19140243;19193899;19194657;19287005;19296720;19458185;19536138;19545932;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19807924;19809571;19814798;19853559;19900460;19926875;20033059;20059951;2017159;20211604;20231386;20351096;2040600;20428113;20448150;20506119;2052361;2072895;20826345;20946875;21057636;2109185;21102408;2115402;21187331;21278753;21316588;21326363;21376233;21445324;21482805;21486943;21499258;21613550;21621608;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22053691;22065583;22099461;22118466;22233676;22302795;22357968;2237820;22484487;22505844;2257624;22815487;22863004;22942912;23186163;23208509;23285027;23297414;23536704;23823722;23861397;23891661;24060757;24130457;24186068;24384571;24581490;24680432;24746795;24789820;24828152;24966051;25107275;25248477;25263444;25303366;25341920;25569790;25748042;26018600;26042225;26403691;2676516;26829388;26992070;27041596;27128622;27220739;28076410;28275114;28286024;28657654;2890644;29557506;29559111;29789417;3127059;32387766;33168185;33392160;33524871;33968037;34087483;3417785;35051231;35251023;35494241;36241641;3672127;37916731;6146630;7541030;7542744;7551568;7569928;7592934;7595538;7608156;7624335;7657591;7777577;7822302;7823924;7857651;7871435;7876254;7877694;7923378;8090221;8090222;8248782;8413279;8483478;8524399;8552632;8553074;8576248;8583621;8621719;8668170;8756618;8837779;8846918;8918830;9032251;9084409;9092476;9100026;9169142;9169477;9303539;9343422;9390517;9418898;9427626;9428629;9622090;9635431;9722618;9723620;9736607;9770464;9774344;9808461;9809064;9812899;9822744;9858769", "class_list": "", "function": "Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity)., [UniProtKB]; LncRNA MIR210HG promotes the proliferation, migration, and invasion of lung cancer cells by inhibiting the transcription of SH3GL3., [RefSeq, PubMed]; SH3GL3 acts as a novel tumor suppressor in glioblastoma tumorigenesis by inhibiting STAT3 signaling., [RefSeq, PubMed]; SH3GL3 functions as a potent tumor suppressor in lung cancer in a SH3 domain dependent manner., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43553;O43554", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0016020 membrane;GO:0031901 early endosome membrane;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0045666 positive regulation of neuron differentiation;GO:0061024 membrane organization;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 39.6, "record_id": "Q99963-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NU19-1", "uniprot_id": [ { "id": "TB22B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NU19", "type": "external" } ], "mass": 59081.0, "length": 505, "protein_name": "TBC1 domain family member 22B", "gene_name": "TBC1D22B", "organism": "Human", "refseq_name": "TBC1 domain family member 22B", "refseq_ac": [ { "id": "NP_060242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060242", "type": "external" } ], "gene_names_uniprotkb": "TBC1D22B; C6orf197", "gene_names_refseq": "C6orf197; TBC1D22B", "protein_names_uniprotkb": "TBC1 domain family member 22B", "protein_names_refseq": "TBC1 domain family member 22B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55633)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "18991276;19077034;23186163;23572552;25576301;25880248;26992070;27600516;27846572;28228285;28832583;28904123;29242379;29393594;29485866;29557506;29632046;29769354;30315122;30429286;31844290;31848261;32157095;32265295;32350084;32387766;32938616;32983136;33298915;33592498;33968037;35051231;35251023;36215666;36241641;36284347", "class_list": "", "function": "May act as a GTPase-activating protein for Rab family protein(s)., [UniProtKB]; Using affinity purification-mass spectrometry, we identified the putative Rab33 GTPase-activating proteins TBC1D22A and TBC1D22B as ACBD3-interacting factors. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KA28;Q32MQ8;Q5VUK9;Q6P4C3;Q7Z6P7;Q9BPV6;Q9BUT5;Q9NXB6", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0071889 14-3-3 protein binding", "go_cellular_component": "GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9NU19-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99569-1", "uniprot_id": [ { "id": "PKP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99569", "type": "external" } ], "mass": 131868.0, "length": 1192, "protein_name": "Plakophilin-4", "gene_name": "PKP4", "organism": "Human", "refseq_name": "plakophilin-4 isoform b", "refseq_ac": [ { "id": "NP_001005476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005476", "type": "external" } ], "gene_names_uniprotkb": "PKP4", "gene_names_refseq": "PKP4; p0071", "protein_names_uniprotkb": "Plakophilin-4; p0071", "protein_names_refseq": "catenin 4; plakophilin-4 isoform b", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:8502); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 6, "publication_count": 148, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10664463;10771479;11237011;11350120;11380615;11590230;11784792;11940653;12244061;12522270;12842009;12902340;14732713;15033990;15144186;15337775;15373777;15738000;15797384;15803139;16061697;16094384;16382671;16481321;16497976;16639001;1691188;1694855;17081983;17115030;1714783;17389395;17515931;17521629;17525332;17562024;17596512;18220336;18452278;18578522;18669648;18691976;18843291;18996843;19103606;19136556;19190773;19194479;19369195;19413330;19664994;19664995;19690332;19691289;19706687;19901323;20068231;20179351;20657595;20667819;20811643;20940292;21406692;21439340;21654840;21997417;23186163;23481192;23481700;23629652;2414304;24275569;24690281;24714562;25009281;25208914;25888806;25892735;25926655;26390218;26969432;26992070;27397612;28228285;28657654;28832583;28904123;29034528;29242379;29493099;29557506;29769354;29786170;30315122;30479852;31092671;31154438;31217245;31530632;31844290;31848261;31871319;32157095;32161166;32350084;32357974;32387766;32488085;32541000;32897882;32938616;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34357683;34509645;34561969;34932366;35051231;35251023;35494241;35580925;36010968;36284347;36581221;38253038;7543090;8649376;8824274;8937994;8999895;9395522;9468612;9531558;9565599", "class_list": "", "function": "Armadillo-like proteins are characterized by a series of armadillo repeats, first defined in the Drosophila 'armadillo' gene product, that are typically 42 to 45 amino acids in length. These proteins can be divided into subfamilies based on their number of repeats, their overall sequence similarity, and the dispersion of the repeats throughout their sequences. Members of the p120(ctn)/plakophilin subfamily of Armadillo-like proteins, including CTNND1, CTNND2, PKP1, PKP2, PKP4, and ARVCF. PKP4 may be a component of desmosomal plaque and other adhesion plaques and is thought to be involved in regulating junctional plaque organization and cadherin function. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]., [RefSeq]; Kir2.1 Interactome Mapping Uncovers PKP4 as a Modulator of the Kir2.1-Regulated Inward Rectifier Potassium Currents., [RefSeq, PubMed]; Plays a role as a regulator of Rho activity during cytokinesis. May play a role in junctional plaques., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 50, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q86W91", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0030155 regulation of cell adhesion;GO:0098609 cell-cell adhesion;GO:0035023 regulation of Rho protein signal transduction;GO:0007043 cell-cell junction assembly", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q99569-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N668-1", "uniprot_id": [ { "id": "COMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N668", "type": "external" } ], "mass": 21178.0, "length": 190, "protein_name": "COMM domain-containing protein 1", "gene_name": "COMMD1", "organism": "Human", "refseq_name": "COMM domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_689729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689729", "type": "external" } ], "gene_names_uniprotkb": "COMMD1; C2orf5; MURR1", "gene_names_refseq": "C2orf5; COMMD1; MURR1", "protein_names_uniprotkb": "COMM domain-containing protein 1; Protein Murr1", "protein_names_refseq": "COMM domain-containing protein 1 isoform 1; COMM domain-containing protein 1; copper metabolism (Murr1) domain containing 1; copper metabolism gene MURR1; protein Murr1", "tax_id": 9606, "disease": "", "pathway": " (hsa:150684); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 169, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11809725;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12547404;12609982;12682069;12759363;12816948;12968035;14645214;14685266;14690597;14757770;15205742;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16573520;16647857;16707496;16790436;16943200;17081101;17097678;17132228;17183367;17220875;17309234;17332328;17497243;17785452;17919502;18093314;18206966;18305112;18775313;18776931;18805092;18826954;18851830;18926707;18940794;19250909;19321346;19617556;19748355;20048074;20068069;20237237;20458141;20595380;21447816;21463634;21483833;21667063;21741370;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23481700;23515529;23535662;23535663;23563313;23583660;23637203;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25074812;25314029;25349211;25355947;25531226;26154972;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;28115426;28218747;28228285;28604741;28832583;28892079;28904123;29153394;29242379;29437277;29493099;29508533;30429286;30610225;30833945;31154438;31217245;31844290;31848261;32005965;32157095;32284348;32357974;32387766;32897882;32938616;33298915;33444648;33691108;33912179;34171305;34357683;34932366;35051231;35580925;36010968;36284347;37172566;38459129;38916163;9790970;9887101;9891082", "class_list": "", "function": "Association between COMMD1 gene polymorphism rs11125908 and rheumatoid arthritis in the Cuban population. Publication Status: Online-Only, [RefSeq, PubMed]; Findings reveal involvement of Murr1 in the defined pathway of hepatic biliary copper excretion, suggest a mechanism for Murr1 function in this process, and provide evidence in support of the proposed role of the MURR1 gene in hepatic copper toxicosis, [RefSeq, PubMed]; No mutations in the MURR1 gene, including the intron-exon boundaries, were identified in a total of 23 patients with non-Wilsonian hepatic copper toxicosis, [RefSeq, PubMed]; Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). Can modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes by displacing CAND1; in vitro promotes CRL E3 activity and dissociates CAND1 from CUL1 and CUL2 (PubMed:21778237). Promotes ubiquitination of NF-kappa-B subunit RELA and its subsequent proteasomal degradation. Down-regulates NF-kappa-B activity (PubMed:15799966, PubMed:17183367, PubMed:20048074). Involved in the regulation of membrane expression and ubiquitination of SLC12A2 (PubMed:23515529). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits and by promoting their ubiquitination presumably involving NEDD4L. Promotes the localization of SCNN1D to recycling endosomes (PubMed:14645214, PubMed:20237237, PubMed:21741370). Promotes CFTR cell surface expression through regulation of its ubiquitination (PubMed:21483833). Down-regulates SOD1 activity by interfering with its homodimerization (PubMed:20595380). Plays a role in copper ion homeostasis. Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association within the CCC complex and cooperation with the WASH complex on early endosomes (PubMed:25355947). Can bind one copper ion per monomer (PubMed:17309234). May function to facilitate biliary copper excretion within hepatocytes. Binds to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) (PubMed:18940794). Involved in the regulation of HIF1A-mediated transcription; competes with ARNT/Hif-1-beta for binding to HIF1A resulting in decreased DNA binding and impaired transcriptional activation by HIF-1 (PubMed:20458141). Negatively regulates neuroblastoma G1/S phase cell cycle progression and cell proliferation by stimulating ubiquitination of NF-kappa-B subunit RELA and NF-kappa-B degradation in a FAM107A- and actin-dependent manner (PubMed:28604741)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFQ4;Q96GS0", "ec_number_list": [], "go_molecular_function": "GO:0019871 sodium channel inhibitor activity;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0015031 protein transport;GO:0031398 positive regulation of protein ubiquitination;GO:2000009 negative regulation of protein localization to cell surface", "synthesized_glycan_count": 0, "hit_score": 17.0, "record_id": "Q8N668-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQB8-1", "uniprot_id": [ { "id": "BAIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQB8", "type": "external" } ], "mass": 60868.0, "length": 552, "protein_name": "BAR/IMD domain-containing adapter protein 2", "gene_name": "BAIAP2", "organism": "Human", "refseq_name": "BAR/IMD domain-containing adapter protein 2 isoform 4", "refseq_ac": [ { "id": "NP_001138360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138360", "type": "external" } ], "gene_names_uniprotkb": "BAIAP2", "gene_names_refseq": "BAIAP2; BAP2; DEE120; FLAF3; IRSP53; WAML", "protein_names_uniprotkb": "BAR/IMD domain-containing adapter protein 2; BAI-associated protein 2; BAI1-associated protein 2; Brain-specific angiogenesis inhibitor 1-associated protein 2; FLAF3; Fas ligand-associated factor 3; IRS-58; IRSp53/58; IRSp53; Insulin receptor substrate p53/p58; Insulin receptor substrate p53; Insulin receptor substrate protein of 53 kDa; Protein BAP2", "protein_names_refseq": "BAI1 associated protein 2; BAR/IMD domain-containing adapter protein 2 isoform 4; BAR/IMD domain-containing adapter protein 2; IRS-58; IRSp53/58; WASP and MIM like; brain-specific angiogenesis inhibitor 1-associated protein 2; fas ligand-associated factor 3; insulin receptor substrate of 53 kDa; insulin receptor substrate p53/p58; insulin receptor substrate protein of 53 kDa", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 120 (Disease Ontology:DOID:0051089); autism spectrum disorder (Disease Ontology:DOID:0060041); Alzheimer's disease (Disease Ontology:DOID:10652); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); Gilles de la Tourette syndrome (Disease Ontology:DOID:11119)", "pathway": " (hsa:10458); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-5663213); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013423); (R-HSA-9664422)", "pathway_count": 8, "publication_count": 443, "publication_id_list": "10037737;10075701;10207622;10219243;10232922;10332026;10343108;10395673;10464238;10490598;10496324;10508610;10523665;10523675;10526156;10559246;10559936;10579713;10618392;10677529;10692392;10699171;10699464;10724160;10744763;10749680;10781580;10873802;10878810;10958683;10995437;11007481;11058585;11085924;11130076;11149925;11157975;11157984;11231582;11237011;11276226;11278486;11306516;11329366;11340081;11373293;11396949;11431473;11432776;11553796;11584276;11606631;11672528;11695992;11696015;11696321;11704860;11707441;11747816;11756552;11773441;11803464;11804587;11804589;11804590;11829459;11854399;11884391;11912491;11948177;11956649;11961559;12055636;12071859;12093360;12096337;12105426;12134158;12172552;12189515;12195014;12213210;12214271;12215529;12221096;12235133;12351724;12391143;12432077;12464388;12464619;12504591;12531887;12546821;12547822;12650940;12660731;12665586;12743368;12773384;12810700;12820653;12857875;12860998;12877655;12884081;12907671;12923183;1314888;14506234;14512443;14514689;1464587;14675773;14676198;14718541;14724572;14752106;15023524;15026417;15033976;15040784;15064355;15107133;15133129;15147912;15157669;15247219;15260990;15289329;15302923;15304341;15308668;15339924;15342493;15452139;15485661;15507211;15579468;15601624;15611138;15635447;15657136;15688067;15695828;15728722;15850391;15858067;15897194;15962004;16002401;16112081;16116428;16184169;16217026;16243036;16262445;16336962;16473593;16492808;16507994;16519628;16546099;16630611;16636067;16641196;16702231;16714282;16760434;16762923;16777452;16777849;16862148;16880808;16896804;16914516;16966330;16968698;17030947;17064668;17077126;17115031;17145773;17188549;17196961;17199126;17202194;17214551;17237347;17244649;17293873;17308335;17389395;17583407;17599059;17686471;17702745;17765681;17804252;17932950;17976533;18006505;18045877;18056264;18070890;18212344;18218625;18249095;18347018;18363964;18391171;18396277;18417251;18426980;18653540;18669648;18697831;18786931;18835169;18838382;18929667;19007248;19230644;19267251;19269969;19286134;19366662;19413330;19415658;19494238;19534724;19605563;19664994;19664995;19673492;19713215;19741094;19933840;19934221;19955216;20068230;20068231;20400958;20460433;20658524;20679435;20810653;21037092;21148482;21406692;21419341;21445309;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22137581;22298643;22327215;22407364;22461490;22475431;22571869;22608513;22689825;22734669;22970203;23186163;23200924;23209303;23216836;23255595;23288169;23406282;23434736;23572525;23675550;23707487;23718289;23940355;24086303;24259668;24275569;24335996;24352656;24584464;24715725;2474607;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26628301;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27920218;28028151;28114311;28196833;28356423;28825699;28832583;28834231;28860633;28904123;29089502;29242379;29358323;29382922;29393594;29485866;29557506;29786170;29789417;30061681;30379171;30429286;30696821;30779550;30853411;30893014;31844290;31848261;31871319;32157095;32203420;32387766;32535200;32938616;32983136;33043033;33141586;33392160;33537174;33592498;33936100;33968037;33981976;34087483;34185709;35051231;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37074911;37217939;37938771;38149472;38724689;41133935;7479768;7509446;7512369;7559638;7673236;7721814;7753201;7835339;7848918;8021274;8107774;8537347;8543060;8617235;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8809042;8810315;8816443;8939998;8986718;8990121;8994827;9013646;9099726;9113980;9182576;9252344;9268338;9305890;9393975;9398617;9405671;9438849;9472046;9490638;9497316;9582072;9600938;9659915;9670022;9705280;9792683;9799231;9822598;9829970;9843499;9846874;9883880;9885284;9988689", "class_list": "", "function": "Adapter protein that links membrane-bound small G proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth, neuronal differentiation and neuronal migration (PubMed:41133935). Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions (PubMed:41133935)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Adapter protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. Necessary for CDC42-mediated reorganization of the actin cytoskeleton and for RAC1-mediated membrane ruffling. Involved in the regulation of the actin cytoskeleton by WASF family members and the Arp2/3 complex. Plays a role in neurite growth. Acts syngeristically with ENAH to promote filipodia formation. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Participates in actin bundling when associated with EPS8, promoting filopodial protrusions., [UniProtKB, UniProtKB]; BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43858;Q53HB1;Q86WC1;Q8N5C0;Q96CR7;Q9UBR3;Q9UQ43", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0008093 cytoskeletal anchor activity;GO:0070064 proline-rich region binding;GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0007009 plasma membrane organization;GO:0007409 axonogenesis;GO:0032956 regulation of actin cytoskeleton organization;GO:0046847 filopodium assembly;GO:2000463 positive regulation of excitatory postsynaptic potential", "synthesized_glycan_count": 0, "hit_score": 45.0, "record_id": "Q9UQB8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95967-1", "uniprot_id": [ { "id": "FBLN4_HUMAN", "url": "https://www.uniprot.org/uniprot/O95967", "type": "external" } ], "mass": 49405.0, "length": 443, "protein_name": "EGF-containing fibulin-like extracellular matrix protein 2", "gene_name": "EFEMP2", "organism": "Human", "refseq_name": "EGF-containing fibulin-like extracellular matrix protein 2 precursor", "refseq_ac": [ { "id": "NP_058634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634", "type": "external" } ], "gene_names_uniprotkb": "EFEMP2; FBLN4; PRO226", "gene_names_refseq": "ARCL1B; EFEMP2; FBLN4; MBP1; UPH1", "protein_names_uniprotkb": "EGF-containing fibulin-like extracellular matrix protein 2; FIBL-4; Fibulin-4; Protein UPH1", "protein_names_refseq": "EGF containing fibulin extracellular matrix protein 2; EGF containing fibulin like extracellular matrix protein 2; EGF-containing fibulin-like extracellular matrix protein 2 precursor; FIBL-4; fibulin 4; mutant p53 binding protein 1", "tax_id": 9606, "disease": "arterial tortuosity syndrome (Disease Ontology:DOID:0050645); autosomal recessive cutis laxa type IB (Disease Ontology:DOID:0070133); aortic dissection (Disease Ontology:DOID:0080685); endometrial cancer (Disease Ontology:DOID:1380); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); cervix carcinoma (Disease Ontology:DOID:2893); cutis laxa (Disease Ontology:DOID:3144); osteosarcoma (Disease Ontology:DOID:3347); bone osteosarcoma (Disease Ontology:DOID:3376); aortic aneurysm (Disease Ontology:DOID:3627); coronary restenosis (Disease Ontology:DOID:4247); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:30008); (R-HSA-2129379)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10025398;10424889;10544250;10601734;10646116;10930463;10982184;11237011;11970960;12358597;12415008;12429738;12975309;1400330;14701737;16303743;16685658;1708799;17255108;17324935;17937443;18339631;18973305;19349279;19570982;19664000;19855011;20389311;21081667;21646718;22919265;22943132;23782690;27339457;27726376;29093164;29557506;29741879;31154438;31530632;32157095;32938616;33968037;35580925;36316642;36565192;37074911;37420173;37938771;38113391;38665916;7500359;7534784;9725916", "class_list": "", "function": "A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]; EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun signaling to promote the invasion of ovarian cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation of smooth muscle cell (SMC) and in the mechanical properties and wall integrity maintenance of the aorta (PubMed:27339457). In addition, is involved in the control of collagen fibril assembly in tissue throught proteolytic activation of LOX leading to cross- linking of collagen and elastin (By similarity). Also promotes ELN coacervation and participates in the deposition of ELN coacervates on to microfibrils but also regulates ELN cross- linking through LOX interaction (PubMed:18973305, PubMed:19570982). Moreover adheres to the cells through heparin binding in a calcium-dependent manner and regulates vascularlar smooth muscle cells proliferation through angiotensin signaling (PubMed:23782690)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity., [RefSeq, PubMed]; STEAP2 promotes osteosarcoma progression by inducing epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling pathway and is regulated by EFEMP2., [RefSeq, PubMed]; Whole-exome sequencing uncovers a novel EFEMP2 gene variant (c.C247T) associated with dominant nonsyndromic thoracic aortic aneurysm., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 30, "disease_count": 13, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K7R4;B3KM31;B3KQT1;O75967", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005604 basement membrane", "go_biological_process": "GO:1905609 positive regulation of smooth muscle cell-matrix adhesion;GO:0035904 aorta development;GO:0097084 vascular associated smooth muscle cell development;GO:0048251 elastic fiber assembly;GO:0060414 aorta smooth muscle tissue morphogenesis", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "O95967-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UMS0-1", "uniprot_id": [ { "id": "NFU1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UMS0", "type": "external" } ], "mass": 28463.0, "length": 254, "protein_name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial", "gene_name": "NFU1", "organism": "Human", "refseq_name": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001002755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002755", "type": "external" } ], "gene_names_uniprotkb": "NFU1; CGI-33; HIRIP5", "gene_names_refseq": "CGI-33; HIRIP5; HIRIP; MMDFS; MMDS1; NFU1; NIFUC; Nfu; NifU; SPG93", "protein_names_uniprotkb": "NFU1 iron-sulfur cluster scaffold homolog, mitochondrial; HIRA-interacting protein 5", "protein_names_refseq": "HIRA-interacting protein 5; NFU1 iron-sulfur cluster scaffold homolog, mitochondrial isoform 2; NFU1 iron-sulfur cluster scaffold homolog, mitochondrial; NifU-like C-terminal domain containing; iron-sulfur cluster scaffold protein", "tax_id": 9606, "disease": "multiple mitochondrial dysfunctions syndrome (Disease Ontology:DOID:0070330); hereditary spastic paraplegia 93 (Disease Ontology:DOID:0070645); multiple mitochondrial dysfunctions syndrome 1 (Disease Ontology:DOID:0080133)", "pathway": " (hsa:27247); (R-HSA-9857492)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10103005;11237011;11342215;11389890;12886008;12915448;19570983;21846720;21944046;22077971;22152680;23301498;24129315;24256811;24341803;25418920;25477904;25576301;25918518;26154972;26702583;26992070;27818104;27846572;28161430;28228285;28514659;28757203;28832583;28904123;28906594;29493099;29987032;31042466;31844290;31848261;32157095;32387766;32938616;33141586;33298915;33912179;33936100;33968037;34171305;34509645;34932366;35051231;36010968;36240223;36256512;36645076;37211204;37453661;37481209;37823603", "class_list": "", "function": "A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins, [RefSeq, PubMed]; Analyses of genomic DNA, transcripts, and translation products indicate that alternative splicing of a common pre-mRNA results in synthesis of two Nfu isoforms with distinct subcellular localizations., [RefSeq, PubMed]; BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome., [RefSeq, PubMed]; Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins., [UniProtKB, PubMed, PubMed, PubMed]; Laforin interacts with HIRIP5., [RefSeq, PubMed]; Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes [case report], [RefSeq, PubMed]; Patient-specific variants of NFU1/NFU-1 disrupt cholinergic signaling in a model of multiple mitochondrial dysfunctions syndrome 1., [RefSeq, PubMed]; Phenotypic continuum of NFU1-related disorders., [RefSeq, PubMed]; Structural Plasticity of NFU1 Upon Interaction with Binding Partners: Insights into the Mitochondrial [4Fe-4S] Cluster Pathway., [RefSeq, PubMed]; This gene encodes a protein that is localized to mitochondria and plays a critical role in iron-sulfur cluster biogenesis. The encoded protein assembles and transfers 4Fe-4S clusters to target apoproteins including succinate dehydrogenase and lipoic acid synthase. Mutations in this gene are a cause of multiple mitochondrial dysfunctions syndrome-1, and pseudogenes of this gene are located on the short arms of chromosomes 1 and 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DUL9;Q53QE5;Q6VNZ8;Q7Z5B1;Q7Z5B2;Q9Y322", "ec_number_list": [], "go_molecular_function": "GO:0005506 iron ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0051537 2 iron, 2 sulfur cluster binding;GO:0051536 iron-sulfur cluster binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9UMS0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EG1-1", "uniprot_id": [ { "id": "ARSG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EG1", "type": "external" } ], "mass": 57061.0, "length": 525, "protein_name": "Arylsulfatase G", "gene_name": "ARSG", "organism": "Human", "refseq_name": "arylsulfatase G isoform 1 precursor", "refseq_ac": [ { "id": "NP_001254656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254656", "type": "external" } ], "gene_names_uniprotkb": "ARSG; KIAA1001; PRO1777", "gene_names_refseq": "ARSG; USH4", "protein_names_uniprotkb": "Arylsulfatase G; 3.1.6.15; 3.1.6.1; ASG; N-sulfoglucosamine-3-sulfatase", "protein_names_refseq": "ASG; N-sulfoglucosamine-3-sulfatase; arylsulfatase G isoform 1 precursor", "tax_id": 9606, "disease": "Usher syndrome (Disease Ontology:DOID:0050439); mucopolysaccharidosis (Disease Ontology:DOID:12798); Usher syndrome, type 4 (MONDO:MONDO:0029141)", "pathway": " (hsa:22901); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 140, "publication_id_list": "10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12461688;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;12975309;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15944288;15962010;16229686;16230343;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;18283100;1840600;18524657;1889421;1907800;1915858;19405096;19836391;19960030;2001789;20728381;22689975;235289;239890;25135642;2562955;25825126;25892735;2717620;28126847;28218747;28904123;29300381;29437277;29443946;29557506;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29769354;29802621;3014515;3048308;30656493;3136930;31495489;3158659;31844290;32157095;32350084;32357974;32455177;32488085;32938616;33300174;33629623;33717175;33968037;34171305;34223797;3456607;34932366;35051231;35226187;35494241;36317447;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684;9699462", "class_list": "glycogene", "function": "Arylsulfatase G is a novel lysosomal sulfatase and its expression is tissue-specific with highest expression in liver, kidney, and pancreas, [RefSeq, PubMed]; Consistent genetic factors for ATP2B1, CSK, ARSG and CSMD1 were present, which have been shown to be associated with high blood pressure and hypertension in two Korean cohorts. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Displays arylsulfatase activity at acidic pH towards artificial substrates, such as p-nitrocatechol sulfate and also, but with a lower activity towards p-nitrophenyl sulfate and 4-methylumbelliferyl sulfate (PubMed:18283100, PubMed:29300381). Catalyzes the hydrolysis of the 3-sulfate groups of the N-sulfo-D-glucosamine 3-O-sulfate units of heparin (PubMed:22689975)., [UniProtKB, PubMed, PubMed, PubMed]; Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome., [RefSeq, PubMed]; Molecular cloning and biochemical characterization of Arylsulfatase G [ARSG], [RefSeq, PubMed]; Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome., [RefSeq, PubMed]; New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. Erratum:[Hum Mutat. 2022 Dec;43(12):2326-2327. doi: 10.1002/humu.24496. PMID: 36317447], [RefSeq, PubMed]; No association of rs11655081 ARSG with blepharospasm was found in a Greek cohort., [RefSeq, PubMed]; The protein encoded by this gene belongs to the sulfatase enzyme family. Sulfatases hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules. This protein displays arylsulfatase activity at acidic pH, as is typical of lysosomal sulfatases, and has been shown to localize in the lysosomes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 709, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXF2;Q9Y2K4", "ec_number_list": [ { "id": "3.1.6.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.2", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity;GO:0033889 N-sulfoglucosamine-3-sulfatase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005764 lysosome", "go_biological_process": "GO:0006790 sulfur compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q96EG1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHQ9-1", "uniprot_id": [ { "id": "DDX55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHQ9", "type": "external" } ], "mass": 68547.0, "length": 600, "protein_name": "ATP-dependent RNA helicase DDX55", "gene_name": "DDX55", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DDX55", "refseq_ac": [ { "id": "NP_065987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065987", "type": "external" } ], "gene_names_uniprotkb": "DDX55; KIAA1595", "gene_names_refseq": "DDX55", "protein_names_uniprotkb": "ATP-dependent RNA helicase DDX55; 3.6.4.13; DEAD box protein 55", "protein_names_refseq": "ATP-dependent RNA helicase DDX55; DEAD (Asp-Glu-Ala-Asp) box polypeptide 55; DEAD box protein 55; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:57696)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;18220336;18452278;18669648;19415658;19651622;19664995;19690332;20068231;21406692;23186163;25418920;26154972;26811146;26992070;27846572;27920218;28218747;28228285;28510447;28514659;28904123;29242379;29393594;29437277;29493099;29557506;29632046;30315122;30410026;30429286;30620550;30833945;31217245;31530632;31844290;32265295;32387766;32897882;32938616;33048000;33141586;33298915;33936100;33968037;34509645;35051231;36010968;36241641;37217939;40596516", "class_list": "", "function": "Probable ATP-binding RNA helicase. Has ATPase activity and is involved in the maturation of precursor large subunit rRNAs (PubMed:33048000)., [UniProtKB, PubMed]; RNA helicase., [UniProtKB, UniProtKB, UniProtKB]; The DExD box ATPase DDX55 is recruited to domain IV of the 28S ribosomal RNA by its C-terminal region., [RefSeq, PubMed]; This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q658L6;Q8IYH0;Q9HCH7", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity;GO:0070180 large ribosomal subunit rRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0000470 maturation of LSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q8NHQ9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2K6-1", "uniprot_id": [ { "id": "ERMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2K6", "type": "external" } ], "mass": 100231.0, "length": 904, "protein_name": "Endoplasmic reticulum metallopeptidase 1", "gene_name": "ERMP1", "organism": "Human", "refseq_name": "endoplasmic reticulum metallopeptidase 1 isoform 1", "refseq_ac": [ { "id": "NP_079172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079172", "type": "external" } ], "gene_names_uniprotkb": "ERMP1; FXNA; KIAA1815", "gene_names_refseq": "ERMP1; FXNA; KIAA1815; bA207C16.3", "protein_names_uniprotkb": "Endoplasmic reticulum metallopeptidase 1; 3.4.-.-; Felix-ina", "protein_names_refseq": "Felix-ina; aminopeptidase Fxna; endoplasmic reticulum metallopeptidase 1 isoform 1", "tax_id": 9606, "disease": "chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:79956)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17267443;19159218;19651622;20068231;22223895;22424782;23481700;24190977;24715725;25418920;25576301;25645385;25880248;25892735;27543614;27566589;27600516;27846572;27920218;28228285;28467828;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29741879;29769354;29786170;30315122;30429286;30524438;30573663;30779550;30833945;31092671;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33968037;33981976;34171305;34357683;34509645;34561969;34725712;34932366;35051231;35132862;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37074911;38665916", "class_list": "", "function": "Functional analysis of the rat Fxna ortholog., [RefSeq, PubMed]; High expression of ERMP1 is correlated with cancer., [RefSeq, PubMed]; Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RNA4;B3KSB1;Q8N5T5;Q9H5M1", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008235 metalloexopeptidase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006508 proteolysis;GO:0034599 cellular response to oxidative stress;GO:0030968 endoplasmic reticulum unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q7Z2K6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02724-1", "uniprot_id": [ { "id": "GLPA_HUMAN", "url": "https://www.uniprot.org/uniprot/P02724", "type": "external" } ], "mass": 16430.0, "length": 150, "protein_name": "Glycophorin-A", "gene_name": "GYPA", "organism": "Human", "refseq_name": "glycophorin-A isoform 3 precursor", "refseq_ac": [ { "id": "NP_001295119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295119", "type": "external" } ], "gene_names_uniprotkb": "GYPA; GPA; MNS", "gene_names_refseq": "CD235a; GPA; GPErik; GPSAT; GYPA; HGpMiV; HGpMiXI; HGpSta(C); MNS; MN; PAS-2", "protein_names_uniprotkb": "Glycophorin-A; MN sialoglycoprotein; PAS-2; Sialoglycoprotein alpha", "protein_names_refseq": "MN sialoglycoprotein; Mi.V glycoprotein (24 AA); erythroid-lineage-specific membrane sialoglycoprotein; glycophorin A (MN blood group); glycophorin A, GPA; glycophorin Erik; glycophorin MiI; glycophorin MiV; glycophorin SAT; glycophorin Sta type C; glycophorin-A isoform 3 precursor; recombinant glycophorin A-B Miltenberger-DR; sialoglycoprotein alpha", "tax_id": 9606, "disease": "malaria (Disease Ontology:DOID:12365); obsolete blood group, mn (MONDO:MONDO:0020616); malaria, susceptibility to (MONDO:MONDO:0021024)", "pathway": " (hsa:2993); (R-HSA-202733)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10.1038/emboj.2013.79;10354388;1059087;10606205;10729812;10764623;10827258;10912628;10926825;11207550;11237011;11256994;11313283;11402026;11564780;11779189;11812992;12070135;12208882;12469115;12782713;12813056;1421409;1421410;14529530;14604989;14615387;1463744;15000751;15313217;15331714;15528364;15681301;15721307;1591491;1611092;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18380804;19279206;19438409;20727998;21193412;21659548;2216775;22171320;23584533;2386609;23945545;24043627;24275569;24764293;2538457;25778531;2734312;29789417;30237853;30459171;31154438;3196288;3305497;3345758;3456608;35132862;3514617;35835865;36102166;3624241;3809885;38231087;3967649;4091823;468991;5350948;6166001;6190803;6619126;6940143;7040988;7430095;7509040;7521878;7798177;7919351;8009226;8163559;8166770;8245024;8286855;8314844;8384526;8953647;9052782;9082985;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "(Microbial infection) Appears to be a receptor for Hepatitis A virus (HAV)., [UniProtKB, PubMed]; (Microbial infection) Receptor for P.falciparum erythrocyte-binding antigen 175 (EBA-175); binding of EBA-175 is dependent on sialic acid residues of the O-linked glycans., [UniProtKB, PubMed]; Aberrant GPA expression and regulatory function of red blood cells in sickle cell disease., [RefSeq, PubMed]; Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (PubMed:35835865). Glycophorin A is the major intrinsic membrane protein of the erythrocyte. The N-terminal glycosylated segment, which lies outside the erythrocyte membrane, has MN blood group receptors. Appears to be important for the function of SLC4A1 and is required for high activity of SLC4A1. May be involved in translocation of SLC4A1 to the plasma membrane., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Fatal haemolytic transfusion reaction due to anti-En[a] and identification of a novel GYPA c.295delG variant in a Thai family., [RefSeq, PubMed]; Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 16, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 21, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 21, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 21, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 12, "reported_phosphosites": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 28, "disease_count": 3, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DFT7;A8K3E6;B8Q182;B8Q185;Q9BS51", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0170014 ankyrin-1 complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "P02724-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14316-1", "uniprot_id": [ { "id": "IRF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P14316", "type": "external" } ], "mass": 39354.0, "length": 349, "protein_name": "Interferon regulatory factor 2", "gene_name": "IRF2", "organism": "Human", "refseq_name": "interferon regulatory factor 2", "refseq_ac": [ { "id": "NP_002190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002190", "type": "external" } ], "gene_names_uniprotkb": "IRF2", "gene_names_refseq": "IRF-2; IRF2", "protein_names_uniprotkb": "Interferon regulatory factor 2; IRF-2", "protein_names_refseq": "interferon regulatory factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3660); (R-HSA-5620971); (R-HSA-877300); (R-HSA-909733); (R-HSA-983231)", "pathway_count": 5, "publication_count": 219, "publication_id_list": "10067896;10395669;10542297;10982844;10986460;11025449;11042108;11058120;11062261;11092454;11237011;11242053;11337497;11377645;11404376;11585831;11744692;11751636;11895428;11950885;11972023;12029096;12032298;12040185;12134158;12427746;12438563;12446674;12738767;12766484;12799427;12842042;12915721;1396683;14586410;14722222;14769151;15020713;15047845;1508672;15143187;15226432;15247287;15312780;15322115;15388922;15449939;15530433;15710388;15778442;16009940;16054028;16171819;16237089;1630448;16467876;16897187;16987978;17027967;17125875;17196961;17251292;1730654;17351669;17969444;18035202;18362138;18514056;18575461;18591661;19293402;19413330;19859801;20049711;20130243;20304997;20363976;20530532;20627800;20643137;218813;2211721;23061660;23121362;23481700;24275569;24417533;25371710;25418920;25576301;25772364;25892735;26375003;26508369;26845023;27281216;27383986;27418190;27846572;27920218;28045099;28063628;2813069;28228285;28392147;28446606;28459430;28832583;28904123;29177860;29242379;29393594;29485866;29493099;29508533;29539421;29557506;29632046;29632711;29769354;29786170;29891674;29898893;29990470;30143555;30315122;30485383;30976076;31092671;31113851;31154438;31217245;31844290;31848261;32032529;32109412;32113509;32157095;32188940;32357974;32367036;32488085;32511913;32574262;32661006;32758689;32820063;32862111;32897882;32938616;32983136;33117408;33123756;33189161;33193462;33239784;33396578;33592498;33912179;33936100;3409321;34185709;34930359;34932366;35051231;35115027;35580925;36521002;36544762;37938771;39013473;39489739;6162102;6548414;688397;7507207;7510216;7514165;7526154;7530745;7537377;7540766;7615558;7617032;7657660;7673114;7687740;7690989;7796299;8106512;8156998;8176225;8197134;8232552;8483949;8530158;8550631;8605876;8621447;8631301;8662638;8702790;8816476;9065479;9096384;9111318;9121453;9143706;9230307;9242679;9326583;9331217;9334213;9422515;9540062;9660177;9847332;9861020;9927674", "class_list": "", "function": "DNA-binding transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible genes and regulates their expression (PubMed:39013473, PubMed:7687740). Mainly acts as a transcription repressor, repressing expression (PubMed:39013473). Also acts as an activator for several genes including H4 and IL7 (PubMed:15226432, PubMed:9540062). Constitutively binds to the ISRE promoter to activate IL7 (PubMed:15226432). Involved in cell cycle regulation through binding the site II (HiNF-M) promoter region of H4 and activating transcription during cell growth (PubMed:9540062). Antagonizes IRF1 transcriptional activation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; IRF-2 inhibits cancer proliferation by promoting AMER-1 transcription in human gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; IRF2 encodes interferon regulatory factor 2, a member of the interferon regulatory transcription factor (IRF) family. IRF2 competitively inhibits the IRF1-mediated transcriptional activation of interferons alpha and beta, and presumably other genes that employ IRF1 for transcription activation. However, IRF2 also functions as a transcriptional activator of histone H4. [provided by RefSeq, Jul 2008]., [RefSeq]; IRF2 inhibits ZIKV replication by promoting FAM111A expression to enhance the host restriction effect of RFC3. Publication Status: Online-Only, [RefSeq, PubMed]; IRF2 is required for development and functional maturation of human NK cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon regulatory factor-2 is required for the establishment of the gut intraepithelial T-cell compartment., [RefSeq, PubMed]; Unable to bind to IRF2BP1 and IRF2BP2 corepressors and cannot mediate repression., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6RCK5;H0Y8S3;Q6IAS7;Q96B99", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0030054 cell junction;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008283 cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 22.2, "record_id": "P14316-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBY5-1", "uniprot_id": [ { "id": "LPAR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBY5", "type": "external" } ], "mass": 40128.0, "length": 353, "protein_name": "Lysophosphatidic acid receptor 3", "gene_name": "LPAR3", "organism": "Human", "refseq_name": "lysophosphatidic acid receptor 3", "refseq_ac": [ { "id": "NP_036284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036284", "type": "external" } ], "gene_names_uniprotkb": "LPAR3; EDG7; LPA3", "gene_names_refseq": "EDG7; Edg-7; GPCR; HOFNH30; LP-A3; LPA3; LPAR3; RP4-678I3", "protein_names_uniprotkb": "Lysophosphatidic acid receptor 3; LPA receptor 3; LPA-3; Lysophosphatidic acid receptor Edg-7", "protein_names_refseq": "LPA receptor 3; LPA receptor EDG7; LPA-3; calcium-mobilizing lysophosphatidic acid receptor LP-A3; endothelial cell differentiation gene 7; endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7; lysophosphatidic acid receptor 3; lysophosphatidic acid receptor Edg-7", "tax_id": 9606, "disease": "", "pathway": " (hsa:23566); (R-HSA-416476); (R-HSA-418594); (R-HSA-419408)", "pathway_count": 4, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;10191087;10488065;10488122;10567430;10617617;10727522;10727532;10753843;10799507;10861009;11007482;11015615;11093753;11742120;11753430;12120503;12427546;12730698;15951850;16182515;16268778;16339447;16634148;16754659;16923326;18434541;18515384;18577758;18936096;1905813;19366702;20061941;2160972;23388400;24900670;2534964;26990079;2748346;2834384;2841328;28904123;29735753;30429286;3086311;33347862;33406026;36416236;38791546;38928196;7937899;8015379;8406495;8626678;8664309;8878560;9070858;9305846;9525886;9770463;9804623", "class_list": "", "function": "LPA3 Receptor Phosphorylation Sites: Roles in Signaling and Internalization. Publication Status: Online-Only, [RefSeq, PubMed]; LPAR1 and aberrantly expressed LPAR3 differentially promote the migration and proliferation of malignant peripheral nerve sheath tumor cells., [RefSeq, PubMed]; Lysophosphatidic Acid Receptor 3 (LPA3): Signaling and Phosphorylation Sites. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for lysophosphatidic acid (LPA), a mediator of diverse cellular activities. May play a role in the development of ovarian cancer. Seems to be coupled to the G(i)/G(o) and G(q) families of heteromeric G proteins., [UniProtKB]; Roles of endothelial cells in the regulation of cell motility via lysophosphatidic acid receptor-2 (LPA2) and LPA3 in osteosarcoma cells., [RefSeq, PubMed]; This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulation of lysophosphatidic acid receptors 2 and 3 regulates myeloid commitment of hematopoietic stem cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0AVA3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005543 phospholipid binding;GO:0008289 lipid binding;GO:0001965 G-protein alpha-subunit binding;GO:0070915 lysophosphatidic acid receptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030424 axon;GO:0045202 synapse", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007268 chemical synaptic transmission;GO:0051928 positive regulation of calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9UBY5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBU9-1", "uniprot_id": [ { "id": "NXF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBU9", "type": "external" } ], "mass": 70182.0, "length": 619, "protein_name": "Nuclear RNA export factor 1", "gene_name": "NXF1", "organism": "Human", "refseq_name": "nuclear RNA export factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001074960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074960", "type": "external" } ], "gene_names_uniprotkb": "NXF1; TAP", "gene_names_refseq": "MEX67; NXF1; TAP", "protein_names_uniprotkb": "Nuclear RNA export factor 1; Tip-associated protein; Tip-associating protein; mRNA export factor TAP", "protein_names_refseq": "mRNA export factor TAP; nuclear RNA export factor 1 isoform 2; tip associating protein; tip-associated protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10482); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236)", "pathway_count": 5, "publication_count": 130, "publication_id_list": "10202158;10228171;10323864;10454577;10489353;10668806;10924507;11014198;11060011;11073998;11237011;11256625;11259411;11259602;11546873;11546874;11579093;11583626;11707413;11739738;11756420;11875519;12003494;12093754;12581645;14729961;14730019;15120988;16314397;16971948;17000901;17001072;17317185;18364396;18411249;18423201;18452278;18596238;18691976;18936162;19165146;19324961;19369354;19494120;19586903;19793817;19836239;19864460;20005110;20068231;20129943;2017161;20630994;21699900;22121020;22732409;22893130;23186163;23299939;23582887;23591820;23804756;23826332;24715725;25418920;25576301;25662211;26154972;26768311;26992070;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28855257;28904123;28984244;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30379171;30397120;30429286;31217245;31373491;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33465208;33592498;33912179;33968037;34019948;34087483;34171305;34561969;34725712;35051231;35325275;35580925;36241641;37938771;38626369;38665916;39270556;40596516;40914422;9175835;9618489;9660949", "class_list": "", "function": "Association between TAP gene polymorphisms and tuberculosis susceptibility in a Han Chinese population in Guangdong., [RefSeq, PubMed]; HnRNPA2B1 ISGylation Regulates m6A-Tagged mRNA Selective Export via ALYREF/NXF1 Complex to Foster Breast Cancer Development., [RefSeq, PubMed]; Interaction of CDK12 with NXF1 is a new node for the linking mechanism between transcription and transportation of mRNA., [RefSeq, PubMed]; Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway) (PubMed:10924507). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex (PubMed:18364396, PubMed:19165146, PubMed:9660949). ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export (PubMed:18364396, PubMed:19165146, PubMed:9660949). Also involved in nuclear export of m6A-containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Results indicate that Tap regulates expression of its own intron-containing RNA through a CTE (constitutive transport element)-mediated mechanism, [RefSeq, PubMed]; This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4E269;Q99799;Q9UQL2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0042272 nuclear RNA export factor complex;GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus;GO:0015031 protein transport;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q9UBU9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKF7-1", "uniprot_id": [ { "id": "PITC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKF7", "type": "external" } ], "mass": 38388.0, "length": 332, "protein_name": "Cytoplasmic phosphatidylinositol transfer protein 1", "gene_name": "PITPNC1", "organism": "Human", "refseq_name": "cytoplasmic phosphatidylinositol transfer protein 1 isoform a", "refseq_ac": [ { "id": "NP_036549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036549", "type": "external" } ], "gene_names_uniprotkb": "PITPNC1", "gene_names_refseq": "M-RDGB-beta; MRDGBbeta; PITPNC1; RDGB-BETA; RDGBB1; RDGBB", "protein_names_uniprotkb": "Cytoplasmic phosphatidylinositol transfer protein 1; M-rdgB beta; Mammalian rdgB homolog beta; MrdgBbeta; Retinal degeneration B homolog beta; Rta", "protein_names_refseq": "M-rdgB beta; cytoplasmic phosphatidylinositol transfer protein 1 isoform a; mammalian rdgB homolog beta; retinal degeneration B beta 1; retinal degeneration B homolog beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:26207)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10531358;11237011;15345747;18669648;19664994;21728994;22822086;24715725;25576301;25892735;28832583;29242379;29557506;29769354;30524438;30555557;31844290;32157095;32357974;32387766;32897882;32983136;33691108;33912179;33968037;33981976;34171305;34932366;35051231;35292404;35318648;35580925;36010968;36241641;37210549;37217939;37938771;38291470", "class_list": "", "function": "Aberrant overexpression of HOTAIR inhibits abdominal adipogenesis through remodelling of genome-wide DNA methylation and transcription., [RefSeq, PubMed]; Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidic acid (PA) between membranes (PubMed:10531358, PubMed:22822086). Binds PA derived from the phospholipase D signaling pathway and among the cellular PA species, preferably binds to the C16:0/16:1 and C16:1/18:1 PA species (PubMed:22822086)., [UniProtKB, PubMed, PubMed]; Catalyzes the transfer of phosphatidylinositol (PI) and phosphatidic acid (PA) between membranes. Binds PA derived from the phospholipase D signaling pathway and among the cellular PA species, preferably binds to the C16:0/16:1 and C16:1/18:1 PA species., [UniProtKB, UniProtKB]; Catalyzes the transfer of phosphatidylinositol between membranes., [UniProtKB, PubMed]; Elevated expression of PITPNC1 in gastric cancer is correlated with an advanced clinical stage and a poor prognosis. PITPNC1 promotes anoikis resistance through enhanced fatty acid oxidation, which is regulated by omental adipocytes and consequently facilitates gastric cancer omental metastasis. Erratum:[Theranostics. 2024 Sep 5;14(14):5743-5744. doi: 10.7150/thno.101689. PMID: 39310096] Publication Status: Online-Only, [RefSeq, PubMed]; PITPNC1 Suppress CD8[+] T cell immune function and promote radioresistance in rectal cancer by modulating FASN/CD155. Publication Status: Online-Only, [RefSeq, PubMed]; The phosphatidylinositol transfer protein RdgBbeta binds 14-3-3 via its unstructured C-terminus, whereas its lipid-binding domain interacts with the integral membrane protein ATRAP (angiotensin II type I receptor-associated protein)., [RefSeq, PubMed]; The phospholipid transporter PITPNC1 links KRAS to MYC to prevent autophagy in lung and pancreatic cancer. Erratum:[Mol Cancer. 2023 Jun 16;22(1):97. doi: 10.1186/s12943-023-01795-x. PMID: 37328838] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the phosphatidylinositol transfer protein family. The encoded cytoplasmic protein plays a role in multiple processes including cell signaling and lipid metabolism by facilitating the transfer of phosphatidylinositol between membrane compartments. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 1. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K473;J3QR20;Q96I07", "ec_number_list": [ { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:1990050 phosphatidic acid transfer activity;GO:0035091 phosphatidylinositol binding;GO:1901611 phosphatidylglycerol binding;GO:0070300 phosphatidic acid binding;GO:0008526 phosphatidylinositol transfer activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0140268 endoplasmic reticulum-plasma membrane contact site", "go_biological_process": "GO:0007165 signal transduction;GO:0015914 phospholipid transport;GO:1902635 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9UKF7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z419-1", "uniprot_id": [ { "id": "R144B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z419", "type": "external" } ], "mass": 33697.0, "length": 303, "protein_name": "E3 ubiquitin-protein ligase RNF144B", "gene_name": "RNF144B", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF144B", "refseq_ac": [ { "id": "NP_877434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_877434", "type": "external" } ], "gene_names_uniprotkb": "RNF144B; IBRDC2; P53RFP", "gene_names_refseq": "IBRDC2; PIR2; RNF144B; bA528A10.3; p53RFP", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF144B; 2.3.2.31; IBR domain-containing protein 2; RING finger protein 144B; p53-inducible RING finger protein", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF144B; IBR domain containing 2; IBR domain-containing protein 2; p53-inducible RING finger protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:255488); (R-HSA-983168)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11062501;11350924;12646216;12853982;14734113;15224091;15224092;15571818;16427630;16595681;16849449;16954532;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20300062;2261476;23128396;23481700;26992070;27524417;28834231;29724995;31154438;31509299;32488085;32502341;32938616;34087483;34932366;35580925;35699595;38685100;39285245;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. Plays a crucial role in maintaining the genomic stability by controlling the degradation of multiple proteins involved in mitotic progression and DNA damage (PubMed:38685100). Regulates epithelial homeostasis by mediating degradation of CDKN1A and isoform 2 of TP63 (PubMed:23128396). Plays a regulatory role in innate immunity by negatively regulating IRF3 activation and IFN-beta production. Mechanistically, inhibits TBK1 phosphorylation and 'Lys-63'-linked polyubiquitination independently of its E3 ligase activity (PubMed:31509299). Alternatively, promotes 'Lys-27' and 'Lys-33'-linked ubiquitination of IFIH1/MDA5, promoting selective autophagic degradation of IFIH1/MDA5 to inhibit antiviral response (PubMed:39285245)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Inactivation of GSK3beta activity is associated with loss of PIR2 protein and consequent inhibition of cell proliferation in endometrial cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Low RNF144B expression is associated with gastric cancer., [RefSeq, PubMed]; Our study identifies that RNF144B interaction with TBK1 is sufficient to inactivate TBK1 and delineates a previously unrecognized role for RNF144B in innate immune responses., [RefSeq, PubMed]; P53RFP, a p53-inducible RING-finger protein, regulates the stability of p21WAF1., [RefSeq, PubMed]; RNF144B stimulates the proliferation and inhibits the apoptosis of human spermatogonial stem cells via the FCER2/NOTCH2/HES1 pathway and its abnormality is associated with azoospermia., [RefSeq, PubMed]; The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KUA8;B4DZI2;Q5TB85;Q6P4Q0;Q8N3R7;Q9BX38", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031624 ubiquitin conjugating enzyme binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0031966 mitochondrial membrane;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q7Z419-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N661-1", "uniprot_id": [ { "id": "TM86B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N661", "type": "external" } ], "mass": 24352.0, "length": 226, "protein_name": "Lysoplasmalogenase TMEM86B", "gene_name": "TMEM86B", "organism": "Human", "refseq_name": "lysoplasmalogenase TMEM86B isoform 1", "refseq_ac": [ { "id": "NP_776165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776165", "type": "external" } ], "gene_names_uniprotkb": "TMEM86B", "gene_names_refseq": "TMEM86B", "protein_names_uniprotkb": "Lysoplasmalogenase TMEM86B; 3.3.2.2; Transmembrane protein 86B", "protein_names_refseq": "alkenylglycerophosphocholine hydrolase; alkenylglycerophosphoethanolamine hydrolase; lysoplasmalogenase TMEM86B isoform 1; lysoplasmalogenase TMEM86B; lysoplasmalogenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:255043); (R-HSA-1482788)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10085124;10092647;10336645;10358058;10455175;10681567;11031251;11112443;11830583;12150957;12161451;12359733;12522102;14709560;15695510;15863501;15944408;1618844;16243729;16704971;16864775;17182612;18195019;18458083;18614531;18772128;19019078;1904318;19501189;20705608;21515882;26463208;26811146;2925608;33968037;7060561;8083230;8300559;9188469;9417066;9705332", "class_list": "", "function": "Catalyzes the hydrolysis of the vinyl ether bond of choline or ethanolamine lysoplasmalogens, forming fatty aldehyde and glycerophosphocholine or glycerophosphoethanolamine, respectively and is specific for the sn-2-deacylated (lyso) form of plasmalogen., [UniProtKB, PubMed]; Transient transfection of human embryonic kidney (HEK) 293T cells showed that TMEM86b cDNA yielded lysoplasmalogenase activity, and Western blot analyses confirmed the synthesis of TMEM86b protein, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.3.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.2", "type": "external" } ], "go_molecular_function": "GO:0016803 ether hydrolase activity;GO:0047408 alkenylglycerophosphocholine hydrolase activity;GO:0042802 identical protein binding;GO:0047826 D-lysine 5,6-aminomutase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0036151 phosphatidylcholine acyl-chain remodeling;GO:0046485 ether lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q8N661-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZM7-1", "uniprot_id": [ { "id": "TINAL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZM7", "type": "external" } ], "mass": 52387.0, "length": 467, "protein_name": "Tubulointerstitial nephritis antigen-like", "gene_name": "TINAGL1", "organism": "Human", "refseq_name": "tubulointerstitial nephritis antigen-like isoform 2 precursor", "refseq_ac": [ { "id": "NP_001191343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191343", "type": "external" } ], "gene_names_uniprotkb": "TINAGL1; GIS5; LCN7; OLRG2; PP6614; PRO230; PSEC0088; TINAGL", "gene_names_refseq": "ARG1; LCN7; LIECG3; TINAGL1; TINAGRP", "protein_names_uniprotkb": "Tubulointerstitial nephritis antigen-like; Glucocorticoid-inducible protein 5; OLRG-2; Oxidized LDL-responsive gene 2 protein; TIN Ag-related protein; TIN-Ag-RP; Tubulointerstitial nephritis antigen-related protein", "protein_names_refseq": "OLRG-2; P3ECSL; TIN Ag-related protein; TIN-Ag-RP; TINAG-like 1; androgen-regulated gene 1; glucocorticoid-inducible protein 5; lipocalin 7; oxidized-LDL responsive gene 2; tubulointerstitial nephritis antigen-like isoform 2 precursor; tubulointerstitial nephritis antigen-like; tubulointerstitial nephritis antigen-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64129)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10799322;11170462;11237011;12975309;15340161;15498874;16303743;19159218;23090970;23271734;24190977;25576301;29242379;29557506;29741879;29786170;30612941;31848261;32157095;33912179;33968037;34019948;35051231;37074911;37336990;38355577;39098703", "class_list": "", "function": "May be implicated in the adrenocortical zonation and in mechanisms for repressing the CYP11B1 gene expression in adrenocortical cells. This is a non catalytic peptidase C1 family protein (By similarity)., [UniProtKB]; Results show that lower TINAGL1 expression correlates with advanced triple-negative breast cancer (TNBC) tumor stages, reduced disease-free survival (DFS) and distant metastasis-free survival. Consistent with higher risk of metastatic relapse in breast tumors with lower expression of TINAGL1, highly metastatic human breast cancer cell lines express lower TINAGL1 levels than weakly metastatic cells., [RefSeq, PubMed]; The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Tubulointerstitial nephritis antigen-like 1 from cancer-associated fibroblasts contribute to the progression of diffuse-type gastric cancers through the interaction with integrin beta1. Publication Status: Online-Only, [RefSeq, PubMed]; Tubulointerstitial nephritis antigen-like 1 is a novel matricellular protein that promotes gastric bacterial colonization and gastritis in the setting of Helicobacter pylori infection., [RefSeq, PubMed]; YTHDF1 facilitates esophageal cancer progression via augmenting m6A-dependent TINAGL1 translation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 101, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K9Q5;B4DPK6;D3DPN8;Q8TEJ9;Q8WZ23;Q96GZ4;Q96JW3", "ec_number_list": [], "go_molecular_function": "GO:0043236 laminin binding;GO:0005201 extracellular matrix structural constituent;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:0016197 endosomal transport;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q9GZM7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BJH2-1", "uniprot_id": [ { "id": "TM128_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BJH2", "type": "external" } ], "mass": 18822.0, "length": 165, "protein_name": "Transmembrane protein 128", "gene_name": "TMEM128", "organism": "Human", "refseq_name": "transmembrane protein 128 isoform 1", "refseq_ac": [ { "id": "NP_001284480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284480", "type": "external" } ], "gene_names_uniprotkb": "TMEM128", "gene_names_refseq": "TMEM128", "protein_names_uniprotkb": "Transmembrane protein 128", "protein_names_refseq": "transmembrane protein 128 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:85013)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "23481700;26375851;26992070;27920218;28228285;28832583;28904123;29493099;29769354;30315122;30779550;31844290;32357974;32488085;32897882;32938616;33298915;33912179;33968037;35580925;36010968;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DHS7;D3DVS1;D3DVS3;Q5H9U6;Q96I94", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q5BJH2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99816-1", "uniprot_id": [ { "id": "TS101_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99816", "type": "external" } ], "mass": 43944.0, "length": 390, "protein_name": "Tumor susceptibility gene 101 protein", "gene_name": "TSG101", "organism": "Human", "refseq_name": "tumor susceptibility gene 101 protein", "refseq_ac": [ { "id": "NP_006283", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006283", "type": "external" } ], "gene_names_uniprotkb": "TSG101", "gene_names_refseq": "TSG101; TSG10; VPS23", "protein_names_uniprotkb": "Tumor susceptibility gene 101 protein; ESCRT-I complex subunit TSG101", "protein_names_refseq": "ESCRT-I complex subunit TSG101; tumor susceptibility gene 101 protein; tumor susceptibility gene 101; tumor susceptibility gene 10; tumor susceptibility protein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); ovarian cancer (Disease Ontology:DOID:2394); endometrial adenocarcinoma (Disease Ontology:DOID:2870); cervix carcinoma (Disease Ontology:DOID:2893); carcinoma (Disease Ontology:DOID:305); breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:7251); (R-HSA-162588); (R-HSA-174490); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710); (R-HSA-9918476)", "pathway_count": 7, "publication_count": 146, "publication_id_list": "10888872;11112487;11237011;11427703;11527981;11563910;11595185;11916981;12006492;12379843;12559917;12663786;12802020;12900394;14505570;14519844;14581525;14624836;15039775;15053872;15075231;15143060;15218037;15256501;15473846;15509564;15613341;15858022;16371348;16552148;16571837;16775314;16973552;17229889;17556548;17853893;18005716;18083107;18256029;19007248;19520058;19527882;19640981;19703557;20068231;21068219;21070952;21191027;21238931;21289126;21643473;21757351;2204156;22315426;22660413;22762019;23166352;23186163;23266279;23301498;23305486;25502872;25505266;25645385;25961502;26992070;27600516;27920218;2799391;28218747;28228285;28446606;28467828;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29557506;29632711;29789417;30315122;30379171;30410026;30429286;30779550;31092671;31844290;31848261;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32938616;32983136;33214551;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34509645;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35452674;35494241;35561310;35580925;36010968;36241641;37938771;38003710;38607019;38665916;38901510;39531497;9019400;9242438;9366528;9506952;9525617;9840940", "class_list": "", "function": "Analysis of the Expression of LSF Transcription Factor in the Regulation of Transcription and TSG101 during the Neoplastic Transformation of Endometrial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Involved in the budding of many viruses through an interaction with viral proteins that contain a late-budding motif P-[ST]-A-P. This interaction is essential for viral particle budding of numerous retroviruses. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413). It may also play a role in the extracellular release of microvesicles that differ from the exosomes (PubMed:22315426)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interaction of TSG101 with the PTAP Motif in Distinct Locations of Gag Determines the Incorporation of HTLV-1 Env into the Retroviral Virion. Publication Status: Online-Only, [RefSeq, PubMed]; Phage display identification of high-affinity ligands for human TSG101-UEV: A structural and thermodynamic study of PTAP recognition., [RefSeq, PubMed]; The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9BUM5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0003714 transcription corepressor activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005813 centrosome", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0097352 autophagosome maturation;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:1990182 exosomal secretion", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q99816-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18206-1", "uniprot_id": [ { "id": "VINC_HUMAN", "url": "https://www.uniprot.org/uniprot/P18206", "type": "external" } ], "mass": 123799.0, "length": 1134, "protein_name": "Vinculin", "gene_name": "VCL", "organism": "Human", "refseq_name": "vinculin isoform VCL", "refseq_ac": [ { "id": "NP_003364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003364", "type": "external" } ], "gene_names_uniprotkb": "VCL", "gene_names_refseq": "CMD1W; CMH15; HEL114; MVCL; MV; VCL; VINC", "protein_names_uniprotkb": "Vinculin; MV; Metavinculin", "protein_names_refseq": "epididymis luminal protein 114; epididymis secretory sperm binding protein; meta-vinculin; metavinculin; vinculin isoform VCL", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy 15 (Disease Ontology:DOID:0110321); dilated cardiomyopathy 1W (Disease Ontology:DOID:0110446); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:7414); (R-HSA-114608); (R-HSA-445355); (R-HSA-5674135); (R-HSA-6798695); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9725370); (R-HSA-9764561); (R-HSA-9856530); (R-HSA-9860927); (R-HSA-9958825)", "pathway_count": 16, "publication_count": 412, "publication_id_list": "10.1101/2023.09.13.557529;10209122;10216106;10376603;10409742;10556217;10639123;10649434;10702393;10706082;10706887;10725339;10764742;10891492;10934142;10991994;11110708;11237011;11242081;11280786;11310834;11325826;11457814;11504915;11532985;11741957;11751994;11802164;11802165;11815424;11850821;11853546;11889009;11943732;11968001;11988758;12048254;12068308;12112524;12176338;12185581;12424201;12473660;12479806;12665801;12724311;12750159;12800156;12832465;12920229;12934099;1339348;1435334;14506282;14627618;14630798;14636584;14702644;14962911;14970219;15035987;15070891;15118098;15169778;15208656;15229287;15239952;15260967;15297306;15304325;15374880;15377279;15520807;15543157;15547943;15588951;15630448;156362;15718470;15895073;15988023;16135787;16153455;16161041;16170336;16236538;16364920;16508002;16702958;16712796;16780920;16825495;16871283;16879721;16939498;17016520;17018604;17055381;17081983;17086210;17145850;17178906;17353907;17389395;17416736;17483340;17496912;17547437;17563371;17603482;17603483;17625570;18028034;18083107;18097461;18212344;18280240;18287029;18452557;18510355;18555777;18559533;18562239;18578522;18593892;18594010;18669648;18701132;18710921;18724359;18923523;18923524;18923525;18974108;18974361;19020623;19091303;19219045;19242111;19279408;1930128;19380584;19415658;19456272;19459784;19467855;19608861;19651622;19664994;19664995;19723632;19933846;20052757;20058876;20068231;20130576;20141835;20166139;20179705;20371349;20454865;20484056;20526349;20818844;20858867;21107323;21134980;2116004;21164297;21213368;21406692;21415216;21424530;21494621;21514245;21596819;21639808;21656749;21779496;21784453;2183031;21838707;21847362;21993244;22036506;22043453;22113612;22117219;22177953;22249260;22292133;22327622;22347464;22356324;22395615;22421042;22510884;22569528;22570254;22589270;22613835;22658521;22745804;22778174;22826437;23104988;23139213;23171796;23186163;23201355;23239810;23271734;23288408;23352452;23453624;23481700;23583981;23614898;23640497;23650620;23661334;23667175;23680146;23719902;23834404;23875798;23934108;23957430;2405250;24060861;24121058;24135138;24202393;24275569;24345920;24366607;24445538;24475247;24496003;24518094;24613930;24651010;24715725;24736082;24746704;24751539;24872348;24937142;24957944;25195011;25204415;2526655;25313996;25342631;25393796;25418920;25421750;25435214;25576301;25813404;25907612;25921060;25942574;26001147;26062823;26154972;26214590;26301689;26362469;26691986;26811146;26992070;27090790;27227380;27245569;27566546;27573755;2764880;27679490;27797339;27846572;27862975;27874193;27920218;28218747;28317937;28404650;28467828;28649982;28659337;28741090;28741662;28832583;28834231;28904123;28939558;29069646;29242379;29314611;29393594;29437277;29455642;29467321;29487179;29557506;29632046;29632711;29769354;29774024;29786170;29789417;29873274;30022044;30034615;30131584;30397120;30429286;30524438;30573663;30692217;30779550;30794926;30833945;31020640;31154438;31205027;31217245;31366041;31408443;31530632;31844290;31848261;31998317;32037480;32119511;32157095;32161166;32296767;32350084;32357974;32387766;32488085;32673515;3287375;32938616;32983136;33043033;33123756;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34171305;34215617;34357683;34433824;34499618;34509645;34725712;35051231;35154160;35251023;35318648;35580925;36215666;36241641;36284347;37061858;37248996;37548861;3780718;37938771;38648767;38665916;41350704;6457647;7510216;7512451;7565670;7565795;7731720;7824924;7876172;7929275;7935411;8051079;8140422;8157000;8234276;8440716;8467233;8626374;8633037;8662591;8662795;8692836;8700127;8702989;8858389;9020159;9120317;9481611;9598563;9600334;9620797;9733512;9819383;9855623;9858547", "class_list": "", "function": "Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion., [UniProtKB, PubMed]; Effect of Focal Adhesion Kinase and Vinculin Expression on Migration Parameters of Normal and Tumor Epitheliocytes., [RefSeq, PubMed]; Heart Failure with Recovered Ejection Fraction in Patients with Vinculin Loss-of-function Variants., [RefSeq, PubMed]; Vinculin Y822 is an important determinant of ligand binding., [RefSeq, PubMed]; Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; [No Effect of the p.Arg230His Variant Of The VCL Protein on the Course of the Hypertrophic Cardiomyopathy In Russian Family Carrying The p.Gln1233Ter Pathogenic Variant In The MYBPC3 Gene]. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 29, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q16450;Q5SWX2;Q7Z3B8;Q8IXU7", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003779 actin binding;GO:0031625 ubiquitin protein ligase binding;GO:0005198 structural molecule activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0090636 outer dense plaque of desmosome;GO:0090637 inner dense plaque of desmosome;GO:0061826 podosome ring;GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:0043297 apical junction assembly;GO:0051893 regulation of focal adhesion assembly;GO:1903140 regulation of establishment of endothelial barrier;GO:0007155 cell adhesion;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 42.0, "record_id": "P18206-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCR0-1", "uniprot_id": [ { "id": "B3GL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCR0", "type": "external" } ], "mass": 56704.0, "length": 500, "protein_name": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2", "gene_name": "B3GALNT2", "organism": "Human", "refseq_name": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 2 isoform 2", "refseq_ac": [ { "id": "NP_001264084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264084", "type": "external" } ], "gene_names_uniprotkb": "B3GALNT2", "gene_names_refseq": "B3GALNT2; B3GalNAc-T2; MDDGA11", "protein_names_uniprotkb": "UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2; 2.4.1.313; Beta-1,3-GalNAc-T2; Beta-1,3-N-acetylgalactosaminyltransferase II", "protein_names_refseq": "UDP-GalNAc:beta-1, 3-N-acetylgalactosaminyltransferase 2 isoform 2; UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2; UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2; beta-1,3-GalNAc-T2", "tax_id": 9606, "disease": "congenital muscular dystrophy-dystroglycanopathy type A11 (Disease Ontology:DOID:0111230)", "pathway": " (hsa:148789); (R-HSA-8932505)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14724282;16959974;22958903;23453667;23929950;24084573;24285400;24925318;25576301;26992070;27066570;28855257;28904123;29242379;29393594;29557506;29791932;30429286;30898876;31844290;32157095;32357974;32387766;32938616;33290285;33298915;33592498;33912179;33968037;34171305;34561969;35338537;35494241;37074911;37368380", "class_list": "glycogene;glycosyltransferase", "function": "Although the GalNAcbeta1-3GlcNAcbeta1-R structure has not been reported in humans or other mammals, we have discovered a novel human glycosyltransferase producing this structure on N- and O-glycans., [RefSeq, PubMed]; B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations., [RefSeq, PubMed]; B3GALNT2 overexpression is associated with breast cancer., [RefSeq, PubMed]; B3GALNT2 primarily transferred LDN to intracellular glycoproteins, thereby clearly delineating proteins that carry type-I or type-II LacdiNAcs, [RefSeq, PubMed]; Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Novel mutations in B3GALNT2 gene causing alpha-dystroglycanopathy in Chinese patients. Publication Status: Online-Only, [RefSeq, PubMed]; Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene., [RefSeq, PubMed]; Results demonstrate a role for B3GALNT2 in the glycosylation of alpha-DG and show that B3GALNT2 mutations can cause dystroglycanopathy with muscle and brain involvement., [RefSeq, PubMed]; This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]., [RefSeq]; [Genetic analysis of a Chinese family affected with alpha-dystroglycanopathy due to variant of B3GALNT2 gene]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 662, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q59GR3;Q5TCI3;Q96AL7", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.313", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.313", "type": "external" } ], "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0008376 acetylgalactosaminyltransferase activity;GO:0016758 hexosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0009101 glycoprotein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8NCR0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000001.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C03-1", "uniprot_id": [ { "id": "MID49_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C03", "type": "external" } ], "mass": 49269.0, "length": 454, "protein_name": "Mitochondrial dynamics protein MID49", "gene_name": "MIEF2", "organism": "Human", "refseq_name": "mitochondrial dynamics protein MID49 isoform 3", "refseq_ac": [ { "id": "NP_001138372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138372", "type": "external" } ], "gene_names_uniprotkb": "MIEF2; MID49; SMCR7", "gene_names_refseq": "COXPD49; D3B; MID49; MIEF2; SMCR7", "protein_names_uniprotkb": "Mitochondrial dynamics protein MID49; Mitochondrial dynamics protein of 49 kDa; Mitochondrial elongation factor 2; Smith-Magenis syndrome chromosomal region candidate gene 7 protein", "protein_names_refseq": "DANGER family member 3B; Smith-Magenis syndrome chromosomal region candidate gene 7 protein; Smith-Magenis syndrome chromosome region, candidate 7; mitochondrial dynamic protein MID49; mitochondrial dynamic protein of 49 kDa; mitochondrial dynamics protein MID49 isoform 3; mitochondrial dynamics protein MID49; mitochondrial dynamics protein of 49 kDa", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 49 (Disease Ontology:DOID:0112110)", "pathway": " (hsa:125170)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;11997338;15517828;18669648;21508961;23283981;23530241;23921378;25576301;25645385;25880248;27862975;28228285;28855257;28904123;29242379;29361167;29557506;29899447;31154438;31844290;32157095;32387766;32488085;32502341;32938616;33141586;33298915;33317572;33414447;33968037;34171305;34509645;35051231;35494241;35580925;36010968;38594588", "class_list": "", "function": "Fatty acyl-coenzyme A activates mitochondrial division through oligomerization of MiD49 and MiD51., [RefSeq, PubMed]; MIEF2 over-expression promotes tumor growth and metastasis through reprogramming of glucose metabolism in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MIEF2 reprograms lipid metabolism to drive progression of ovarian cancer through ROS/AKT/mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; MiD49/51 are new mediators of mitochondrial division affecting Drp1 action at mitochondria. GeneRIF: Mitochondrial outer membrane protein that recruits fission mediator Drp1 to the mitochondrial surface., [RefSeq, PubMed]; Mitochondrial outer membrane protein involved in the regulation of mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Smith-Magenis syndrome is caused by a de novo deletion on chromosome 17., [RefSeq, PubMed]; This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]., [RefSeq]; We find that either MiD49 or MiD51 can mediate Drp1 recruitment and mitochondrial fission in the absence of Fis1 and Mff., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3KPT3;Q6ZRD4;Q96N07", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0007005 mitochondrion organization;GO:0090314 positive regulation of protein targeting to membrane;GO:0010821 regulation of mitochondrion organization;GO:0090141 positive regulation of mitochondrial fission", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96C03-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q76LX8-1", "uniprot_id": [ { "id": "ATS13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q76LX8", "type": "external" } ], "mass": 153604.0, "length": 1427, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 13", "gene_name": "ADAMTS13", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_620594", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620594", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS13; C9orf8; PRO20085", "gene_names_refseq": "ADAM-TS13; ADAMTS-13; ADAMTS13; C9orf8; VWFCP; vWF-CP", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 13; 3.4.24.87; ADAM-TS 13; ADAM-TS13; ADAMTS-13; vWF-CP; vWF-cleaving protease; von Willebrand factor-cleaving protease", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13; vWF-cleaving protease; von Willebrand factor-cleaving protease", "tax_id": 9606, "disease": "hepatic veno-occlusive disease (Disease Ontology:DOID:0080177); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); thrombotic thrombocytopenic purpura (Disease Ontology:DOID:10772); disseminated intravascular coagulation (Disease Ontology:DOID:11247); HELLP syndrome (Disease Ontology:DOID:13133); cholestasis (Disease Ontology:DOID:13580); Plasmodium falciparum malaria (Disease Ontology:DOID:14067); systemic scleroderma (Disease Ontology:DOID:418); liver cirrhosis (Disease Ontology:DOID:5082); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:11093); (R-HSA-5083635); (R-HSA-5173214); (R-HSA-75892); (R-HSA-9769739); (R-HSA-9845619); (R-HSA-9845621)", "pathway_count": 7, "publication_count": 112, "publication_id_list": "10026158;11035113;11067851;11230166;11237011;11238108;11535494;11535495;11557746;11574066;11586351;11833835;11843286;11867212;11943772;12052963;12181489;12393399;12393505;12614216;12753286;12791682;12907439;12975309;12975358;14512317;14563640;15009458;15126318;15327386;15755288;16102042;16160007;16161994;1618828;16286459;16335952;16449289;16453338;16464858;16468327;16619025;16796708;16807643;16953270;17003922;17395589;17506785;17598008;17635713;18443791;18720094;1902833;19047683;19055667;19116307;19139490;19297154;1930190;1939645;19796186;19847791;19880749;20427285;21488199;21932952;22075512;22144186;22588082;22618708;2271516;22721582;22786881;23090970;23372163;23683607;2384594;23889335;24554904;24977290;2538457;25544610;25713144;25855704;27574189;28649982;28751567;29391424;29419409;30459171;30918026;31262782;31439947;31844290;33544829;35051231;36951953;37217939;3744129;37726033;3863104;3872140;38723202;6323392;7499257;8144529;8639781;9218519;9280292;9331419;9459334;9469622", "class_list": "", "function": "Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation., [UniProtKB, PubMed]; Cloning, expression, and functional characterization of the von Willebrand factor-cleaving protease (ADAMTS13)., [RefSeq, PubMed]; Improving our understanding on the clinical role of plasmin-mediated von Willebrand factor degradation. Review article, [RefSeq, PubMed]; Mutation of gene causes thrombotic thrombocytopenic purpura, [RefSeq, PubMed]; This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; VWF-CPis composed of a single polypeptide with a molecular mass of approx. 190 kD,and cDNA cloning indicated it is uniquely produced in the liver. Its gene is on chromosome 9q34. Review article, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 1, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 7, "reported_c_glycosites": 1, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 1, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 17, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 11, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "Q6UY16;Q710F6;Q711T8;Q96L37;Q9H0G3;Q9UGQ1", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008237 metallopeptidase activity;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0007229 integrin-mediated signaling pathway;GO:0016485 protein processing;GO:0030198 extracellular matrix organization;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q76LX8-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1110110010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99986-1", "uniprot_id": [ { "id": "VRK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99986", "type": "external" } ], "mass": 45476.0, "length": 396, "protein_name": "Serine/threonine-protein kinase VRK1", "gene_name": "VRK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase VRK1 isoform 1", "refseq_ac": [ { "id": "NP_003375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003375", "type": "external" } ], "gene_names_uniprotkb": "VRK1", "gene_names_refseq": "HMNR10; PCH1A; PCH1; VRK1", "protein_names_uniprotkb": "Serine/threonine-protein kinase VRK1; 2.7.11.1; Vaccinia-related kinase 1", "protein_names_refseq": "serine/threonine-protein kinase VRK1 isoform 1; serine/threonine-protein kinase VRK1; vaccinia related kinase 1; vaccinia virus B1R-related kinase 1", "tax_id": 9606, "disease": "pontocerebellar hypoplasia (Disease Ontology:DOID:0060264); pontocerebellar hypoplasia type 1A (Disease Ontology:DOID:0060265); autosomal recessive distal hereditary motor neuronopathy 10 (Disease Ontology:DOID:0081429)", "pathway": " (hsa:7443); (R-HSA-2980766); (R-HSA-2995383)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10908652;10951572;11237011;11285238;11792822;11883897;12493765;14645249;15105425;15546916;15681850;15944288;16339967;16371512;16495336;16704422;17170708;18077418;18452278;18617507;18628300;19103756;19620630;19646678;19664994;20068231;20576617;20711181;21346188;21543316;21795390;21920476;21937992;22645359;22770216;23186163;24126608;24366607;24714562;24715725;25418920;25609612;25810538;25892735;26024233;26154972;26583493;26992070;27281532;27846572;27875273;27920218;28218747;28228285;28510447;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29769354;30315122;30410026;30429286;30524438;30617279;30847374;31090908;31527692;31837156;31844290;31998317;32157095;32266931;32298515;32357974;32365420;32373127;32387766;32897882;32938616;33076429;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34504951;34932366;35051231;35390161;35561310;35580925;36010968;37179361;37547297;37938771;38367682;38536553;38732093;38806131;7937898;9344656;9465049", "class_list": "", "function": "ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons., [RefSeq, PubMed]; Downregulation of VRK1 Inhibits Progression of Lung Squamous Cell Carcinoma through DNA Damage. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of VRK1 alters the nuclear phosphoproteome in the DNA damage response to doxorubicin., [RefSeq, PubMed]; Serine/threonine kinase involved in the regulation of key cellular processes including the cell cycle, nuclear condensation, transcription regulation, and DNA damage response (PubMed:14645249, PubMed:18617507, PubMed:19103756, PubMed:33076429). Controls chromatin organization and remodeling by mediating phosphorylation of histone H3 on 'Thr-4' and histone H2AX (H2aXT4ph) (PubMed:31527692, PubMed:37179361). It also phosphorylates KAT5 in response to DNA damage, promoting KAT5 association with chromatin and histone acetyltransferase activity (PubMed:33076429). Is involved in the regulation of cell cycle progression of neural progenitors, and is required for proper cortical neuronal migration (By similarity). Is involved in neurite elongation and branching in motor neurons, and has an essential role in Cajal bodies assembly, acting through COIL phosphorylation and the control of coilin degradation (PubMed:21920476, PubMed:31090908, PubMed:31527692). Involved in Golgi disassembly during the cell cycle: following phosphorylation by PLK3 during mitosis, it is required to induce Golgi fragmentation (PubMed:19103756). Phosphorylates BANF1: disrupts its ability to bind DNA, reduces its binding to LEM domain-containing proteins and causes its relocalization from the nucleus to the cytoplasm (PubMed:16495336). Phosphorylates TP53BP1 and p53/TP53 on 'Thr-18', preventing the interaction between p53/TP53 and MDM2 (PubMed:10951572, PubMed:31527692). Phosphorylates ATF2 which activates its transcriptional activity (PubMed:15105425). Phosphorylates JUN (PubMed:31527692)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]., [RefSeq]; VRK1 Regulates Sensitivity to Oxidative Stress by Altering Histone Epigenetic Modifications and the Nuclear Phosphoproteome in Tumor Cells. Publication Status: Online-Only, [RefSeq, PubMed]; VRK1 promotes DNA-induced type I interferon production. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3SYL2", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006468 protein phosphorylation;GO:0007077 mitotic nuclear membrane disassembly;GO:0007165 signal transduction;GO:0031175 neuron projection development", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q99986-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVS9-1", "uniprot_id": [ { "id": "PNPO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVS9", "type": "external" } ], "mass": 29988.0, "length": 261, "protein_name": "Pyridoxine-5'-phosphate oxidase", "gene_name": "PNPO", "organism": "Human", "refseq_name": "pyridoxine-5'-phosphate oxidase isoform 1", "refseq_ac": [ { "id": "NP_060599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060599", "type": "external" } ], "gene_names_uniprotkb": "PNPO", "gene_names_refseq": "HEL-S-302; PDXPO; PNPO", "protein_names_uniprotkb": "Pyridoxine-5'-phosphate oxidase; 1.4.3.5; Pyridoxamine-phosphate oxidase", "protein_names_refseq": "epididymis secretory protein Li 302; epididymis secretory sperm binding protein; pyridoxal 5'-phosphate synthase; pyridoxamine-phosphate oxidase; pyridoxine 5'-phosphate oxidase; pyridoxine-5'-phosphate oxidase isoform 1", "tax_id": 9606, "disease": "pyridoxamine 5'-phosphate oxidase deficiency (Disease Ontology:DOID:0111329); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:55163); (R-HSA-964975)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10987144;11237011;12824491;15182361;15249053;15772097;17287340;20068231;20166139;22279051;23186163;23301498;23481700;23708187;24275569;24715725;25576301;26154972;26375851;26992070;27846572;27864847;27920218;28218747;28514659;28832583;28834231;29242379;29437277;29557506;31092671;31154438;31530632;31844290;31848261;32157095;32888189;32938616;33141586;33298915;33592498;33633747;33912179;33968037;34229054;34769443;34932366;35132862;35580925;37507019", "class_list": "", "function": "Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain., [RefSeq, PubMed]; Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy. Publication Status: Online-Only, [RefSeq, PubMed]; Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency., [RefSeq, PubMed]; Results describe a combined computer and biochemical approach to characterize human pyridoxine 5'-phosphate oxidase (PNPO)., [RefSeq, PubMed]; The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E0V0;B4E152;B4E1D7;D3DTT9", "ec_number_list": [ { "id": "1.4.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.5", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042803 protein homodimerization activity;GO:0010181 FMN binding;GO:0004733 pyridoxamine phosphate oxidase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0008615 pyridoxine biosynthetic process;GO:0042823 pyridoxal phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9NVS9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MN5-1", "uniprot_id": [ { "id": "TEAN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MN5", "type": "external" } ], "mass": 24150.0, "length": 208, "protein_name": "Transcription elongation factor A N-terminal and central domain-containing protein 2", "gene_name": "TCEANC2", "organism": "Human", "refseq_name": "transcription elongation factor A N-terminal and central domain-containing protein 2", "refseq_ac": [ { "id": "NP_694580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694580", "type": "external" } ], "gene_names_uniprotkb": "TCEANC2; C1orf83", "gene_names_refseq": "C1orf83; TCEANC2", "protein_names_uniprotkb": "Transcription elongation factor A N-terminal and central domain-containing protein 2", "protein_names_refseq": "transcription elongation factor A (SII) N-terminal and central domain containing 2; transcription elongation factor A N-terminal and central domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:127428)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;23481700;25418920;26992070;27846572;27920218;28063628;28218747;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29632046;29786170;30315122;30379171;30410026;30484775;31844290;32157095;32387766;32983136;33141586;33392160;33936100;33968037;34509645;35051231;35561310", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T702;Q8N8N2", "ec_number_list": [], "go_molecular_function": "GO:0003711 transcription elongation factor activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006368 transcription elongation by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q96MN5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF62-1", "uniprot_id": [ { "id": "AT8B4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF62", "type": "external" } ], "mass": 135868.0, "length": 1192, "protein_name": "Probable phospholipid-transporting ATPase IM", "gene_name": "ATP8B4", "organism": "Human", "refseq_name": "probable phospholipid-transporting ATPase IM", "refseq_ac": [ { "id": "NP_079113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079113", "type": "external" } ], "gene_names_uniprotkb": "ATP8B4; KIAA1939", "gene_names_refseq": "ATP8B4; ATPIM", "protein_names_uniprotkb": "Probable phospholipid-transporting ATPase IM; 7.6.2.1; ATPase class I type 8B member 4; P4-ATPase flippase complex alpha subunit ATP8B4", "protein_names_refseq": "ATPase, class I, type 8B, member 4; P4-ATPase flippase complex alpha subunit ATP8B4; potential phospholipid-transporting ATPase IM; probable phospholipid-transporting ATPase IM", "tax_id": 9606, "disease": "", "pathway": " (hsa:79895); (R-HSA-6798695); (R-HSA-936837)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;15831496;15919184;15925480;16182249;1656976;16700898;17998437;18723824;19345671;19878721;20947505;20961850;2160952;22186024;23196729;23650620;24392018;26473621;26992070;27067231;28141915;28832583;29242379;29557506;30429286;30664179;31844290;32157095;32387766;32938616;33392160;33592498;34509645;35051231;35580925;37217939;6832622;7626145;8045293;8298639;8490646;8490659;8692836;9147644;9307043", "class_list": "", "function": "ATP8B4 gene was associated with a significant increase in the risk of systemic sclerosis. ATP8B4 is overexpressed in systemic sclerosis patients., [RefSeq, PubMed]; Component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules (Probable)., [UniProtKB]; Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Study did not find statistically significant differences in the frequency of the ATP8B4 rs55687265*C allele between the SSc patients and controls., [RefSeq, PubMed]; Study found that circATP8B4 in extracellular vesicles isolated from radioresistant U251 glioma cells acts as a U251 miR766 sponge, which may be involved in glioma radioresistance., [RefSeq, PubMed]; This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H727", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0140326 ATPase-coupled intramembrane lipid transporter activity;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0045332 phospholipid translocation;GO:0007030 Golgi organization;GO:0015914 phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q8TF62-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G23-1", "uniprot_id": [ { "id": "CERS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G23", "type": "external" } ], "mass": 44876.0, "length": 380, "protein_name": "Ceramide synthase 2", "gene_name": "CERS2", "organism": "Human", "refseq_name": "ceramide synthase 2", "refseq_ac": [ { "id": "NP_071358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071358", "type": "external" } ], "gene_names_uniprotkb": "CERS2; LASS2; TMSG1", "gene_names_refseq": "CERS2; L3; LASS2; SP260; TMSG1", "protein_names_uniprotkb": "Ceramide synthase 2; 2.3.1.24; 2.3.1.297; CerS2; LAG1 longevity assurance homolog 2; SP260; Sphingosine N-acyltransferase CERS2; Tumor metastasis-suppressor gene 1 protein; Very-long-chain ceramide synthase CERS2", "protein_names_refseq": "LAG1 homolog, ceramide synthase 2; LAG1 longevity assurance 2; ceramide synthase 2; longevity assurance (LAG1, S. cerevisiae) homolog 2; sphingosine N-acyltransferase CERS2; tumor metastasis-suppressor gene 1 protein; very-long-chain ceramide synthase CERS2", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446)", "pathway": " (hsa:29956); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 142, "publication_id_list": "10.1101/2023.09.13.557529;10722674;10751414;10802064;10947957;11237011;11543633;11937514;12869556;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16263699;16571669;16793762;16895911;17023427;17050692;17081983;17331073;17355976;17449912;17591919;17977534;17982138;18088087;18165232;18165233;18184806;18318008;18541923;18669648;18691976;19005213;19007248;19159218;19233134;19415658;19416851;19506037;19651622;19691289;19728861;20061445;20068231;20110355;20166139;20182505;20937905;21406692;21620961;22144673;22517924;22661289;22970244;23180825;23186163;23602659;23754960;24190977;24569996;24714562;24782409;25576301;25645385;25788259;25892735;26887952;26992070;27600516;27846572;28218747;28228285;28575652;28649982;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29557506;29563527;29632068;29741879;29769354;29786170;29789417;30059200;30315122;31154438;31217245;31844290;31848261;31895563;32157095;32161166;32357974;32387766;32488085;32574038;32897882;32938616;33392160;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35409383;35580925;36010968;36284347;36300249;36581221;36902339;36907437;36946034;37074911;37224812;37390971;38191448;38665916;38776413;39531497;40596516;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "Activity of CerS2 can be regulated by another bioactive sphingolipid, sphingosine 1-phosphate, [RefSeq, PubMed]; An E115A Missense Variant in CERS2 Is Associated With Increased Sleeping Energy Expenditure and Hepatic Insulin Resistance in American Indians., [RefSeq, PubMed]; Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very-long-chain fatty acyl-CoA (chain length C22-C27) (PubMed:17977534, PubMed:18165233, PubMed:18541923, PubMed:19728861, PubMed:20937905, PubMed:22144673, PubMed:22661289, PubMed:26887952, PubMed:29632068). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (By similarity) (PubMed:17977534, PubMed:18165233, PubMed:18541923, PubMed:19728861, PubMed:20937905, PubMed:22144673, PubMed:22661289, PubMed:26887952, PubMed:29632068). Plays a non-redundant role in the synthesis of ceramides with very-long-chain fatty acids in kidney, liver and brain. Regulates the abundance of myelin-specific sphingolipids galactosylceramide and sulfatide that affects myelin sheath architecture and motor neuron functions (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; LASS2 enhances chemosensitivity to cisplatin by inhibiting PP2A-mediated beta-catenin dephosphorylation in a subset of stem-like bladder cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; LASS2 overexpression enhances early apoptosis of lung cancer cells through the caspasedependent pathway., [RefSeq, PubMed]; This gene encodes a protein that has sequence similarity to yeast longevity assurance gene 1. Mutation or overexpression of the related gene in yeast has been shown to alter yeast lifespan. The human protein may play a role in the regulation of cell growth. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; [LASS2/TMSG1 overexpression inhibits proliferation and promotes apoptosis of human lung cancer A549 cells possibly by upregulating ceramide and p38 MAPK to activate a signaling cascade]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 396, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 33, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DV06;Q5SZE5;Q9HD96;Q9NW79", "ec_number_list": [ { "id": "2.3.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.24", "type": "external" }, { "id": "2.3.1.299", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.299", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.291", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.291", "type": "external" }, { "id": "2.3.1.298", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.298", "type": "external" }, { "id": "2.3.1.297", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.297", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0050291 sphingosine N-acyltransferase activity", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0046513 ceramide biosynthetic process;GO:0019216 regulation of lipid metabolic process;GO:0030148 sphingolipid biosynthetic process;GO:0009611 response to wounding", "synthesized_glycan_count": 0, "hit_score": 17.9, "record_id": "Q96G23-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14976-1", "uniprot_id": [ { "id": "GAK_HUMAN", "url": "https://www.uniprot.org/uniprot/O14976", "type": "external" } ], "mass": 143191.0, "length": 1311, "protein_name": "Cyclin-G-associated kinase", "gene_name": "GAK", "organism": "Human", "refseq_name": "cyclin-G-associated kinase isoform 3", "refseq_ac": [ { "id": "NP_001305063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305063", "type": "external" } ], "gene_names_uniprotkb": "GAK; DNAJC26", "gene_names_refseq": "DNAJ26; DNAJC26; GAK", "protein_names_uniprotkb": "Cyclin-G-associated kinase; 2.7.11.1; Auxilin 2; DnaJ homolog subfamily C member 26", "protein_names_refseq": "auxilin-2; cyclin-G-associated kinase isoform 3; dnaJ homolog subfamily C member 26", "tax_id": 9606, "disease": "Parkinson's disease 19A (Disease Ontology:DOID:0060891); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:2580); (R-HSA-432722); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 244, "publication_id_list": "10.1101/2023.09.13.557529;10394364;10535736;10542231;10559856;10559861;10559924;10625686;10766823;11082044;11231140;11237011;11239472;11470803;11516654;11517213;11532990;11577110;11590181;11604418;11694590;11877457;11877461;11889126;11994746;12057195;12213833;12447393;12847086;12952949;14555962;14581451;14617351;14622578;14622579;15102850;15252009;15260957;15318165;15339664;15502812;15502813;15649145;15703209;15802264;15895077;15916959;16103228;16155256;16215232;16326391;16410077;16516836;16707488;16798879;16880396;16903783;17018281;17035995;17116749;17158794;17344846;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17978091;18093523;18388313;18452278;1847920;18489706;18512783;18663603;18669648;18691976;18790740;18981233;19092055;19287005;19296720;19369195;19413330;19458185;19536138;19575674;19603039;19690332;19696796;19713939;19776351;19809571;20033059;20059951;20166139;20211604;20231386;20428113;20448150;20826345;20946875;2115402;21187331;21278753;21316588;21406692;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22484487;22505844;22645359;22815487;22863004;22898188;23186163;23297414;23301498;23481700;23536704;23823722;23861397;23891661;24130457;24186068;24275569;24366607;24581490;24714562;24715725;24789820;24966051;25107275;25303366;25341920;25469497;25576301;25645385;25880248;25892735;26024233;26042225;26154972;26375851;26403691;26992070;27543614;27600516;27862975;27893789;27920218;28063628;28135906;28218747;28228285;28467828;28514659;28832583;28904123;29242379;29331515;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30429286;30484775;30524438;31844290;31962345;32157095;32265295;32357974;32387766;32488085;32502341;32662538;32897882;32938616;32983136;33141586;33208557;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34671015;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37074911;37938771;38665916;6146630;7877694;8374173;8524399;8552632;8670264;9092476;9100026;9299234;9427626;9428629;9635431;9736607", "class_list": "", "function": "Associates with cyclin G and CDK5. Seems to act as an auxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expression oscillates slightly during the cell cycle, peaking at G1 (PubMed:10625686). May play a role in clathrin-mediated endocytosis and intracellular trafficking, and in the dynamics of clathrin assembly/disassembly (PubMed:18489706)., [UniProtKB, PubMed, PubMed]; Dynamics of Auxilin 1 and GAK in clathrin-mediated traffic., [RefSeq, PubMed]; GAK and PRKCD are positive regulators of PRKN-independent mitophagy. Publication Status: Online-Only, [RefSeq, PubMed]; In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]., [RefSeq]; Inhibiting calpain 1 and 2 in cyclin G associated kinase-knockout mice mitigates podocyte injury. Publication Status: Online-Only, [RefSeq, PubMed]; Mutation Analysis of DNAJC Family for Early-Onset Parkinson's Disease in a Chinese Cohort., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5U4P5;Q9BVY6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "3.4.17.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.22", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0030276 clathrin binding;GO:0044183 protein folding chaperone;GO:0030332 cyclin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0010977 negative regulation of neuron projection development;GO:0006457 protein folding;GO:0006898 receptor-mediated endocytosis;GO:0048268 clathrin coat assembly", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "O14976-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWM7-1", "uniprot_id": [ { "id": "ATX2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWM7", "type": "external" } ], "mass": 113374.0, "length": 1075, "protein_name": "Ataxin-2-like protein", "gene_name": "ATXN2L", "organism": "Human", "refseq_name": "ataxin-2-like protein isoform 1", "refseq_ac": [ { "id": "NP_009176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009176", "type": "external" } ], "gene_names_uniprotkb": "ATXN2L; A2D; A2LG; A2LP; A2RP", "gene_names_refseq": "A2D; A2LG; A2LP; A2RP; ATXN2L", "protein_names_uniprotkb": "Ataxin-2-like protein; Ataxin-2 domain protein; Ataxin-2-related protein", "protein_names_refseq": "ataxin 2 related protein; ataxin-2 domain protein; ataxin-2-like protein isoform 1; ataxin-2-like protein", "tax_id": 9606, "disease": "spinocerebellar ataxia 2 (Disease Ontology:DOID:0050955); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); autosomal dominant cerebellar ataxia (Disease Ontology:DOID:1441)", "pathway": " (hsa:11273)", "pathway_count": 1, "publication_count": 170, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11784712;14769358;15144186;15592455;16964243;17081983;17287340;17322306;17924679;18212344;18220336;18452278;18669648;18691976;18707149;18767875;18991276;19369195;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20058876;20068230;20068231;20230923;20305658;21406692;21740066;22424782;22661428;23186163;23209657;23301498;23481700;24275569;24366607;24714562;24715725;25418920;25576301;25645385;25748791;25810538;25892735;26154972;26375851;26728094;26811146;26992070;27114449;27397612;27600516;27846572;27862975;27869121;27920218;28063628;28218747;28228285;28514659;28649982;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30059200;30315122;30379171;30397120;30429286;30484775;30524438;30620550;30779550;30784271;30787271;30833945;31092671;31154438;31217245;31222486;31373491;31492838;31530632;31637018;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32574038;32870666;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34229054;34357683;34405274;34509645;34725712;34846842;34932366;35051231;35132862;35138101;35251023;35254053;35318648;35513511;35580925;35705054;36010968;36241641;36284347;37217939;37541260;37938771;38665916;38838015;39302247;39531497;40307207;40596516;40914422;8896555", "class_list": "", "function": "ATXN2L associates with the protein arginine-N-methyltransferase 1 (PRMT1)., [RefSeq, PubMed]; ATXN2L promotes cell invasiveness and oxaliplatin resistance and can be upregulated by EGF via PI3K/Akt signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the regulation of stress granule and P-body formation., [UniProtKB, PubMed]; This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 27, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 27, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 27, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 50, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 3, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "A8K1R6;B9EGM2;E9PAR9;O95135;Q63ZY4;Q6NVJ8;Q6PJW6;Q8IU61;Q8IU95;Q8WWM3;Q8WWM4;Q8WWM5;Q8WWM6;Q99703", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0016607 nuclear speck;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0034063 stress granule assembly", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "Q8WWM7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99933-1", "uniprot_id": [ { "id": "BAG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99933", "type": "external" } ], "mass": 38779.0, "length": 345, "protein_name": "BAG family molecular chaperone regulator 1", "gene_name": "BAG1", "organism": "Human", "refseq_name": "BAG family molecular chaperone regulator 1 isoform BAG-1S", "refseq_ac": [ { "id": "NP_001165886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165886", "type": "external" } ], "gene_names_uniprotkb": "BAG1; HAP", "gene_names_refseq": "BAG-1; BAG1; HAP; RAP46", "protein_names_uniprotkb": "BAG family molecular chaperone regulator 1; BAG-1; Bcl-2-associated athanogene 1", "protein_names_refseq": "BAG family molecular chaperone regulator 1 isoform BAG-1S; BAG family molecular chaperone regulator 1; BCL2 associated athanogene 1; BCL2-associated athanogene; Bcl-2 associating athanogene-1 protein; Bcl-2-binding protein; glucocortoid receptor-associated protein RAP46; receptor-associated protein, 46-KD", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); lesion of sciatic nerve (Disease Ontology:DOID:12528); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); cervix carcinoma (Disease Ontology:DOID:2893)", "pathway": " (hsa:573); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10477749;10954706;11222862;11237011;11747420;12724406;12853476;12917326;12974469;15364926;15802566;1586970;15986447;16278218;1754405;17662274;18235501;18235502;18550409;19151744;19229036;19914676;20068231;22465953;22541429;22735644;22940245;23301498;23349863;24318877;27474739;27846572;27920218;28832583;29242379;29393594;29632046;30429286;31844290;31883527;32157095;32265295;32350084;32387766;32983136;33912179;33936100;33968037;33981976;34171305;34509645;34995286;35051231;35251023;36241641;39049197;7585962;8524784;8721986;8812483;8946918;9305631;9396724;9582267;9679980;9873016;9920933", "class_list": "", "function": "Alternate protein isoforms arise through the use of a non-AUG (CUG) codon in addition to downstream in-frame AUG codons., [RefSeq, PubMed]; BAG-1L endogenously regulates gene expression by potentiating nuclear hormone receptor function and a role for BAG-1L in 24-hydroxylase regulation of vitamin D metabolism and the cellular response of oral keratinocytes to 1alpha,25-dihydroxyvitamin D3., [RefSeq, PubMed]; Bag-1-mediated HSF1 phosphorylation regulates expression of heat shock proteins in breast cancer cells., [RefSeq, PubMed]; CRISPR/Cas9-mediated Bag-1 knockout increased mesenchymal characteristics of MCF-7 cells via Akt hyperactivation-mediated actin cytoskeleton remodeling. Publication Status: Online-Only, [RefSeq, PubMed]; Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:24318877, PubMed:27474739, PubMed:9873016). Inhibits the pro-apoptotic function of PPP1R15A, and has anti-apoptotic activity (PubMed:12724406). Markedly increases the anti-cell death function of BCL2 induced by various stimuli (PubMed:9305631). Involved in the STUB1-mediated proteasomal degradation of ESR1 in response to age-related circulating estradiol (17-beta-estradiol/E2) decline, thereby promotes neuronal apoptosis in response to ischemic reperfusion injury (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Distinct isoforms of BAG-1 have different anti-apoptotic functions in breast cancer cells, and that the BAG-1 p50 isoform can potentiate the role of estrogen in ER-positive breast cancer., [RefSeq, PubMed]; The longer p50 isoform is generated through the use of an upstream, in-frame, non-AUG (CUG) translation initiation codon., [RefSeq, PubMed]; The oncogene BCL2 is a membrane protein that blocks a step in a pathway leading to apoptosis or programmed cell death. The protein encoded by this gene binds to BCL2 and is referred to as BCL2-associated athanogene. It enhances the anti-apoptotic effects of BCL2 and represents a link between growth factor receptors and anti-apoptotic mechanisms. Multiple protein isoforms are encoded by this mRNA through the use of a non-AUG (CUG) initiation codon, and three alternative downstream AUG initiation codons. A related pseudogene has been defined on chromosome X. [provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75315;Q14414;Q53H32;Q5VZE8;Q5VZE9;Q5VZF0;Q96TG2;Q9Y2V4", "ec_number_list": [], "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0031625 ubiquitin protein ligase binding;GO:0000774 adenyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q99933-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0Y0-1", "uniprot_id": [ { "id": "ATG10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0Y0", "type": "external" } ], "mass": 25279.0, "length": 220, "protein_name": "Ubiquitin-like-conjugating enzyme ATG10", "gene_name": "ATG10", "organism": "Human", "refseq_name": "ubiquitin-like-conjugating enzyme ATG10", "refseq_ac": [ { "id": "NP_001124500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124500", "type": "external" } ], "gene_names_uniprotkb": "ATG10; APG10L; PP12616", "gene_names_refseq": "APG10L; APG10; ATG10S; ATG10; pp12616", "protein_names_uniprotkb": "Ubiquitin-like-conjugating enzyme ATG10; 2.3.2.-; APG10-like; Autophagy-related protein 10", "protein_names_refseq": "APG10 autophagy 10-like; ATG10 autophagy related 10 homolog; autophagy-related protein 10; ubiquitin-like-conjugating enzyme ATG10", "tax_id": 9606, "disease": "", "pathway": " (hsa:83734); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11096062;11237011;11825910;15187094;15498874;16963840;17618624;18321988;18439900;19211835;19322194;19590496;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21367888;21383122;21460621;21819378;22170151;22174682;22682742;23202584;23685627;23727157;23884233;24747438;24954904;25484072;25568151;25645385;25880248;28904123;29557506;29769354;30315122;31844290;32157095;32350084;32387766;32502341;32897882;32938616;33298915;33968037;33981976;34087483;34171305;34509645;34961976;35051231;35251023;35580925;35902797;36194366;36241641;37938771;38281293;39407279;7628435", "class_list": "", "function": "Analysis of rs1864182 and rs1864183 variants in ATG10 gene and antineutrophil cytoplasmic autoantibody-associated vasculitis in Chinese Guangxi population., [RefSeq, PubMed]; Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).[supplied by OMIM, Mar 2008]., [RefSeq]; E2-like enzyme involved in autophagy. Acts as an E2-like enzyme that catalyzes the conjugation of ATG12 to ATG5. ATG12 conjugation to ATG5 is required for autophagy. Likely serves as an ATG5-recognition molecule. Not involved in ATG12 conjugation to ATG3 (By similarity). Plays a role in adenovirus-mediated cell lysis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Long noncoding RNA SNHG1 alleviates high glucose-induced vascular smooth muscle cells calcification/senescence by post-transcriptionally regulating Bhlhe40 and autophagy via Atg10., [RefSeq, PubMed]; METTL3 mediates m6A modification of lncRNA CRNDE to promote ATG10 expression and improve brain ischemia/reperfusion injury through YTHDC1. Publication Status: Online-Only, [RefSeq, PubMed]; The prognostic value of autophagy related genes with potential protective function in Ewing sarcoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RE09;Q6PIX1;Q9H842", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" } ], "go_molecular_function": "GO:0019777 Atg12 transferase activity;GO:0061651 Atg12 conjugating enzyme activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0015031 protein transport;GO:0006914 autophagy;GO:0000423 mitophagy;GO:0006983 ER overload response", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9H0Y0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TH1-1", "uniprot_id": [ { "id": "ATL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TH1", "type": "external" } ], "mass": 104621.0, "length": 951, "protein_name": "ADAMTS-like protein 2", "gene_name": "ADAMTSL2", "organism": "Human", "refseq_name": "ADAMTS-like protein 2 precursor", "refseq_ac": [ { "id": "NP_001138792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138792", "type": "external" } ], "gene_names_uniprotkb": "ADAMTSL2; KIAA0605", "gene_names_refseq": "ADAMTSL-2; ADAMTSL2; GPHYSD1", "protein_names_uniprotkb": "ADAMTS-like protein 2; ADAMTSL-2", "protein_names_refseq": "ADAMTS-like protein 2 precursor; ADAMTS-like protein 2", "tax_id": 9606, "disease": "geleophysic dysplasia (Disease Ontology:DOID:0111724); geleophysic dysplasia 1 (Disease Ontology:DOID:0111725); impotence (Disease Ontology:DOID:1875)", "pathway": " (hsa:9719); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "10.1074/mcp.M114.046862;11067851;11237011;16464858;18677313;18720094;19139490;19796186;21415077;22588082;23889335;24014090;25544610;25813380;26992070;29351928;29391424;29671580;30459171;32983136;33936100;34936547;34958866;35051231;36896612;37074911;37187448", "class_list": "", "function": "Aberrant interaction between mutated ADAMTSL2 and LTBP4 is associated with adolescent idiopathic scoliosis., [RefSeq, PubMed]; Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders., [RefSeq, PubMed]; Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia., [RefSeq, PubMed]; Secreted ADAMTS-like 2 promotes myoblast differentiation by potentiating WNT signaling., [RefSeq, PubMed]; The relationship of ADAMTSL2 and LRPAP1 gene methylation level with rheumatoid arthritis activity., [RefSeq, PubMed]; These data suggest that ADAMTSL2 mutations may lead to a dysregulation of TGF-beta signaling and may be the underlying mechanism of geleophysic dysplasia., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) and ADAMTS-like protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene lacks the protease domain, and is therefore of a member of the the ADAMTS-like protein subfamily. It is a secreted glycoprotein that binds the cell surface and extracellular matrix; it also interacts with latent transforming growth factor beta binding protein 1. Mutations in this gene have been associated with geleophysic dysplasia. [provided by RefSeq, Feb 2009]., [RefSeq]; Two novel homozygous missense mutations in the ADAMTSL2 gene underlie geleophysic dysplasia in two consanguineous families from the United Arab Emirates., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 16, "disease_count": 3, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B1B0D5;O60345", "ec_number_list": [], "go_molecular_function": "GO:0050436 microfibril binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q86TH1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5FYB0-1", "uniprot_id": [ { "id": "ARSJ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5FYB0", "type": "external" } ], "mass": 67235.0, "length": 599, "protein_name": "Arylsulfatase J", "gene_name": "ARSJ", "organism": "Human", "refseq_name": "arylsulfatase J isoform 1 precursor", "refseq_ac": [ { "id": "NP_078866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078866", "type": "external" } ], "gene_names_uniprotkb": "ARSJ; PRO708", "gene_names_refseq": "ARSJ; ASJ", "protein_names_uniprotkb": "Arylsulfatase J; 3.1.6.-; ASJ", "protein_names_refseq": "arylsulfatase J isoform 1 precursor; arylsulfatase J", "tax_id": 9606, "disease": "", "pathway": " (hsa:79642); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 114, "publication_id_list": "10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;12975309;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15962010;16174644;16229686;16230343;1634229;16368756;16478472;16500042;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19405096;19836391;2001789;20332099;20728381;235289;239890;2562955;2717620;28126847;29393594;29443946;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;3048308;3136930;31495489;3158659;33968037;34211107;3456607;35051231;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684;9699462", "class_list": "glycogene", "function": "Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]; Sulfatases (EC 3.1.5.6), such as ARSJ, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]., [RefSeq]; The identification, molecular cloning and initial characterization of three new members of this human gene family is reported., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 667, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A2RUG0;B7ZM45;Q1HA39;Q5FWE4;Q6UWT9", "ec_number_list": [ { "id": "3.1.6.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.2", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity;GO:0008484 sulfuric ester hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0015629 actin cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q5FYB0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16520-1", "uniprot_id": [ { "id": "BATF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16520", "type": "external" } ], "mass": 14120.0, "length": 125, "protein_name": "Basic leucine zipper transcriptional factor ATF-like", "gene_name": "BATF", "organism": "Human", "refseq_name": "basic leucine zipper transcriptional factor ATF-like", "refseq_ac": [ { "id": "NP_006390", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006390", "type": "external" } ], "gene_names_uniprotkb": "BATF", "gene_names_refseq": "B-ATF; BATF1; BATF; SFA-2; SFA2", "protein_names_uniprotkb": "Basic leucine zipper transcriptional factor ATF-like; B-ATF; B-cell-activating transcription factor; SF-HT-activated gene 2 protein; SFA-2", "protein_names_refseq": "B-cell-activating transcription factor; SF-HT-activated gene 2 protein; activating transcription factor B; basic leucine zipper transcription factor, ATF-like; basic leucine zipper transcriptional factor ATF-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:10538); (R-HSA-6785807); (R-HSA-9976102)", "pathway_count": 3, "publication_count": 113, "publication_id_list": "10023775;10219247;10369418;10510379;10586089;10777209;10867011;11058569;11084045;11104795;11120780;11237011;11278437;11278729;11356008;11404481;11463377;11960372;12223527;12242343;12600988;12719594;12809553;12832402;14634100;14712222;15116091;15261459;15584925;15805299;15869882;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;17427945;17458857;17572495;18243101;18353781;18447642;18644974;19124156;19185846;19397496;20493732;20890291;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23555662;23967200;24097101;24743777;25234944;26154972;28228285;29242379;29485866;29493099;31530632;31844290;32983136;33691108;34932366;35580925;37378949;37713508;38477642;39259809;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8570175;8602263;8621622;8630063;8663118;8668165;8797861;8816495;8954125;9013879;9651359;9723655;9736340;9745044;9822675;9874564", "class_list": "", "function": "AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system: specifically mediates the differentiation of T-helper 17 cells (Th17), follicular T-helper cells (TfH), CD8(+) dendritic cells and class-switch recombination (CSR) in B-cells. Acts via the formation of a heterodimer with JUNB that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3'. The BATF-JUNB heterodimer also forms a complex with IRF4 (or IRF8) in immune cells, leading to recognition of AICE sequence (5'-TGAnTCA/GAAA-3'), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 (or IRF8) and activation of genes. Controls differentiation of T-helper cells producing interleukin-17 (Th17 cells) by binding to Th17-associated gene promoters: regulates expression of the transcription factor RORC itself and RORC target genes such as IL17 (IL17A or IL17B). Also involved in differentiation of follicular T-helper cells (TfH) by directing expression of BCL6 and MAF. In B-cells, involved in class-switch recombination (CSR) by controlling the expression of both AICDA and of germline transcripts of the intervening heavy-chain region and constant heavy-chain region (I(H)-C(H)). Following infection, can participate in CD8(+) dendritic cell differentiation via interaction with IRF4 and IRF8 to mediate cooperative gene activation. Regulates effector CD8(+) T-cell differentiation by regulating expression of SIRT1. Following DNA damage, part of a differentiation checkpoint that limits self-renewal of hematopoietic stem cells (HSCs): up-regulated by STAT3, leading to differentiation of HSCs, thereby restricting self-renewal of HSCs (By similarity)., [UniProtKB]; BATF is a major driver of NK cell epigenetic reprogramming and dysfunction in AML., [RefSeq, PubMed]; BATF promotes extramedullary infiltration through TGF-beta1/Smad/MMPs axis in acute myeloid leukemia., [RefSeq, PubMed]; Integrated BATF transcriptional network regulates suppressive intratumoral regulatory T cells., [RefSeq, PubMed]; Relative Expression of BATF and CD112 in PBMC of Patients with Chronic Lymphocytic Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a nuclear basic leucine zipper protein that belongs to the AP-1/ATF superfamily of transcription factors. The leucine zipper of this protein mediates dimerization with members of the Jun family of proteins. This protein is thought to be a negative regulator of AP-1/ATF transcriptional events. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0060218 hematopoietic stem cell differentiation;GO:0001819 positive regulation of cytokine production;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q16520-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T2N8-1", "uniprot_id": [ { "id": "ATD3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T2N8", "type": "external" } ], "mass": 46380.0, "length": 411, "protein_name": "ATPase family AAA domain-containing protein 3C", "gene_name": "ATAD3C", "organism": "Human", "refseq_name": "ATPase family AAA domain-containing protein 3C", "refseq_ac": [ { "id": "NP_001034300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034300", "type": "external" } ], "gene_names_uniprotkb": "ATAD3C", "gene_names_refseq": "ATAD3C", "protein_names_uniprotkb": "ATPase family AAA domain-containing protein 3C", "protein_names_refseq": "ATPase family AAA domain-containing protein 3C; ATPase family, AAA domain containing 3A", "tax_id": 9606, "disease": "Harel-Yoon syndrome (Disease Ontology:DOID:0081395)", "pathway": " (hsa:219293)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;22192748;27846572;28549128;29557506;31844290;32350084;32387766;38092275", "class_list": "", "function": "'ATAD3C regulates ATAD3A assembly and function in the mitochondrial membrane'., [RefSeq, PubMed]; ATAD3 may therefore be implicated in an unknown but essential and growth-linked mitochondrial function existing since pluri-cellular -organization and involved in tumorigenesis. Review article, [RefSeq, PubMed]; ATAD3C region deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N1Z5", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0007005 mitochondrion organization", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q5T2N8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5M1-1", "uniprot_id": [ { "id": "ATPF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5M1", "type": "external" } ], "mass": 32772.0, "length": 289, "protein_name": "ATP synthase mitochondrial F1 complex assembly factor 2", "gene_name": "ATPAF2", "organism": "Human", "refseq_name": "ATP synthase mitochondrial F1 complex assembly factor 2", "refseq_ac": [ { "id": "NP_663729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_663729", "type": "external" } ], "gene_names_uniprotkb": "ATPAF2; ATP12; LP3663", "gene_names_refseq": "ATP12p; ATP12; ATPAF2; LP3663; MC5DN1", "protein_names_uniprotkb": "ATP synthase mitochondrial F1 complex assembly factor 2; ATP12 homolog", "protein_names_refseq": "ATP synthase mitochondrial F1 complex assembly factor 2; ATP12 homolog", "tax_id": 9606, "disease": "mitochondrial complex V (ATP synthase) deficiency nuclear type 1 (Disease Ontology:DOID:0050768)", "pathway": " (hsa:91647)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;11410595;14757859;15498874;23481700;25880248;26992070;28719601;28832583;28834231;29242379;29786170;31844290;32502341;32897882;32938616;32983136;33717175;33968037;34171305;35051231;35254053;36010968;40596516", "class_list": "", "function": "Plays a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase)., [UniProtKB, PubMed]; This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NDE5;A8K2J2;Q6XYC7", "ec_number_list": [], "go_molecular_function": "GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0043461 proton-transporting ATP synthase complex assembly;GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8N5M1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13825-1", "uniprot_id": [ { "id": "AUHM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13825", "type": "external" } ], "mass": 35609.0, "length": 339, "protein_name": "Methylglutaconyl-CoA hydratase, mitochondrial", "gene_name": "AUH", "organism": "Human", "refseq_name": "methylglutaconyl-CoA hydratase, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001293119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293119", "type": "external" } ], "gene_names_uniprotkb": "AUH", "gene_names_refseq": "AUH", "protein_names_uniprotkb": "Methylglutaconyl-CoA hydratase, mitochondrial; 3-MG-CoA hydratase; 4.2.1.18; 4.2.1.56; AU-binding protein/enoyl-CoA hydratase; AU-specific RNA-binding enoyl-CoA hydratase; Itaconyl-CoA hydratase", "protein_names_refseq": "3-MG-CoA hydratase; 3-methylglutaconyl-CoA hydratase; AU RNA binding protein/enoyl-CoA hydratase; AU RNA-binding protein/enoyl-Coenzyme A hydratase; AU-binding protein/Enoyl-CoA hydratase; AU-specific RNA-binding enoyl-CoA hydratase; itaconyl-CoA hydratase; methylglutaconyl-CoA hydratase, mitochondrial isoform 2; methylglutaconyl-CoA hydratase, mitochondrial", "tax_id": 9606, "disease": "3-methylglutaconic aciduria (Disease Ontology:DOID:0060336); 3-methylglutaconic aciduria type 1 (Disease Ontology:DOID:0110002); renal tubular transport disease (Disease Ontology:DOID:447)", "pathway": " (hsa:549); (R-HSA-70895); (R-HSA-9914274)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10832746;10947204;11013134;11181649;11264579;11406611;11738050;12269802;12359132;12434311;12655555;12696021;13416257;14752098;15166214;1527093;15342248;15576032;16023992;16141215;16640564;17371050;20855850;21840233;22291014;22956686;23485643;24449431;24598254;26251176;29056341;29393594;29557506;3082934;31435015;31844290;35051231;3597357;6181239;6928646;7356336;7892223;8824301;9165094;9214289;9889013", "class_list": "", "function": "3-Methylglutaconic aciduria type I is caused by mutations in AUH Erratum:[Am J Hum Genet. 2003 Sep;73(3):709], [RefSeq, PubMed]; AUH localizes to the inner mitochondrial membrane and matrix where it associates with mitochondrial ribosomes and regulates protein synthesis., [RefSeq, PubMed]; Catalyzes the fifth step in the leucine degradation pathway, the reversible hydration of 3-methylglutaconyl-CoA (3-MG-CoA) to 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) (PubMed:11738050, PubMed:12434311, PubMed:12655555, PubMed:16640564). Can catalyze the reverse reaction but at a much lower rate in vitro (PubMed:16640564). HMG-CoA is then quickly degraded by another enzyme (such as HMG-CoA lyase) to give acetyl-CoA and acetoacetate (PubMed:16640564). Uses other substrates such as (2E)-glutaconyl-CoA efficiently in vitro, and to a lesser extent 3-methylcrotonyl-CoA (3-methyl-(2E)-butenoyl-CoA), crotonyl-CoA ((2E)-butenoyl-CoA) and 3-hydroxybutanoyl-CoA (the missing carboxylate reduces affinity to the active site) (PubMed:16640564). Originally it was identified as an RNA-binding protein as it binds to AU-rich elements (AREs) in vitro (PubMed:7892223). AREs direct rapid RNA degradation and mRNA deadenylation (PubMed:7892223). Might have itaconyl-CoA hydratase activity, converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, an antimicrobial metabolite and immunomodulator produced by macrophages during certain infections, that can act as a vitamin B12-poisoning metabolite (PubMed:29056341)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel deletion of exons 1-3 within the AUH gene., [RefSeq, PubMed]; This gene encodes bifunctional mitochondrial protein that has both RNA-binding and hydratase activities. The encoded protein is a methylglutaconyl-CoA hydratase that catalyzes the hydration of 3-methylglutaconyl-CoA to 3-hydroxy-3-methyl-glutaryl-CoA, a critical step in the leucine degradation pathway. This protein also binds AU-rich elements (AREs) found in the 3' UTRs of rapidly decaying mRNAs including c-fos, c-myc and granulocyte/ macrophage colony stimulating factor. ARE elements are involved in directing RNA to rapid degradation and deadenylation. This protein is localizes to the mitochondrial matrix and the inner mitochondrial membrane and may be involved in mitochondrial protein synthesis. Mutations in this gene are the cause of 3-methylglutaconic aciduria, type I. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1ALV7;B1ALV8;Q8WUE4", "ec_number_list": [ { "id": "4.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.17", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "4.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.18", "type": "external" }, { "id": "4.2.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.56", "type": "external" } ], "go_molecular_function": "GO:0003730 mRNA 3'-UTR binding;GO:0004300 enoyl-CoA hydratase activity;GO:0004490 methylglutaconyl-CoA hydratase activity;GO:0050011 itaconyl-CoA hydratase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0006552 L-leucine catabolic process;GO:0110052 toxic metabolite repair", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q13825-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q156A1-1", "uniprot_id": [ { "id": "ATX8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q156A1", "type": "external" } ], "mass": 10272.0, "length": 80, "protein_name": "Ataxin-8", "gene_name": "ATXN8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ATXN8", "gene_names_refseq": "", "protein_names_uniprotkb": "Ataxin-8; Protein 1C2", "protein_names_refseq": "", "tax_id": 9606, "disease": "spinocerebellar ataxia 8 (Disease Ontology:DOID:0050959)", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "16804541", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q156A1-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16515-1", "uniprot_id": [ { "id": "ASIC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16515", "type": "external" } ], "mass": 57709.0, "length": 512, "protein_name": "Acid-sensing ion channel 2", "gene_name": "ASIC2", "organism": "Human", "refseq_name": "acid-sensing ion channel 2 isoform MDEG1", "refseq_ac": [ { "id": "NP_001085", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001085", "type": "external" } ], "gene_names_uniprotkb": "ASIC2; ACCN1; ACCN", "gene_names_refseq": "ACCN1; ACCN; ASIC2a; ASIC2; BNC1; BNaC1; MDEG; hBNaC1", "protein_names_uniprotkb": "Acid-sensing ion channel 2; ASIC2; Amiloride-sensitive cation channel 1, neuronal; Amiloride-sensitive cation channel neuronal 1; BNC1; BNaC1; Brain sodium channel 1; MDEG; Mammalian degenerin homolog", "protein_names_refseq": "acid sensing (proton gated) ion channel 2; acid-sensing ion channel 2 isoform MDEG1; acid-sensing ion channel 2; amiloride-sensitive cation channel 1, neuronal; brain Na+ channel-1; brain sodium channel 1; mammalian degenerin homolog; neuronal amiloride-sensitive cation channel 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:40); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;10842183;11059692;11182090;11588175;11687798;11734858;11802773;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15504740;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23034652;23112050;2321095;23616951;2536303;26359375;26562072;28071645;28154142;28790369;31154438;31531354;34199609;34215968;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8631835;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "ASIC2 Synergizes with TRPV1 in the Mechano-Electrical Transduction of Arterial Baroreceptors., [RefSeq, PubMed]; ASIC2 could be crucial in the pathogenesis of osteoporosis and could serve as a therapeutic target for antiosteoporotic therapies. Publication Status: Online-Only, [RefSeq, PubMed]; Expression Profiles of ASIC1/2 and TRPV1/4 in Common Skin Tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Forms pH-gated trimeric sodium channels that act as postsynaptic excitatory sensors in the nervous system (PubMed:10842183, PubMed:23034652, PubMed:8626462, PubMed:8631835). Upon extracellular acidification, these channels generate rapid, transient inward currents that fully desensitize (PubMed:10842183). Highly selective for sodium, they are permeable to other cations (PubMed:8626462, PubMed:8631835). By forming heterotrimeric channels with ASIC1, could contribute to synaptic plasticity, learning, and memory. Additionally, as acid sensors at nerve terminals, plays a role in mechanosensation and phototransduction (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 0, "mined_o_glycosites": 4, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "E9PBX2;Q13553;Q6DJU1;Q8N3E2", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0022839 monoatomic ion-gated channel activity;GO:0160125 pH-gated sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0043197 dendritic spine;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0071466 cellular response to xenobiotic stimulus;GO:0035725 sodium ion transmembrane transport;GO:0050915 sensory perception of sour taste;GO:0071468 cellular response to acidic pH;GO:0150052 regulation of postsynapse assembly", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q16515-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000010010001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TAZ0-1", "uniprot_id": [ { "id": "ATG2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TAZ0", "type": "external" } ], "mass": 212860.0, "length": 1938, "protein_name": "Autophagy-related protein 2 homolog A", "gene_name": "ATG2A", "organism": "Human", "refseq_name": "autophagy-related protein 2 homolog A isoform 1", "refseq_ac": [ { "id": "NP_055919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055919", "type": "external" } ], "gene_names_uniprotkb": "ATG2A; KIAA0404", "gene_names_refseq": "ATG2A; BLTP4A", "protein_names_uniprotkb": "Autophagy-related protein 2 homolog A", "protein_names_refseq": "ATG2 autophagy related 2 homolog A; autophagy-related protein 2 homolog A isoform 1; autophagy-related protein 2 homolog A; bridge-like lipid transfer protein family member 4A", "tax_id": 9606, "disease": "", "pathway": " (hsa:23130)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;18669648;18691976;20068231;21887408;22219374;23186163;23481700;24275569;24714562;24776541;28228285;28410202;28561066;28820312;28832583;28904123;29557506;29632711;30192525;30315122;30379171;30952800;31217245;31271352;31844290;32157095;32350084;32357974;32387766;32483132;32488085;32502341;32610138;32938616;32983136;33106659;33298915;33592498;33619246;33850023;33912179;33968037;34357683;35051231;35580925;36010968;36241641;37115157;37460467", "class_list": "", "function": "A model for a partnership of lipid transfer proteins and scramblases in membrane expansion and organelle biogenesis., [RefSeq, PubMed]; Among polymorphisms identified in the present study, rs76974938 [C/T (D67N)] of C21orf59 and rs188780113 [G/A (R478C)] of ATG2A may be novel determinants of estimated glomerular filtration rate and chronic kidney disease or of the serum concentration of uric acid, respectively., [RefSeq, PubMed]; Depletion of both Atg2A and Atg2B causes clustering of enlarged lipid droplets in an autophagy-independent manner. These data suggest that mammalian Atg2 proteins function both in autophagosome formation and regulation of lipid droplet morphology and dispersion., [RefSeq, PubMed]; HIF-1alpha-induced expression of m6A reader YTHDF1 drives hypoxia-induced autophagy and malignancy of hepatocellular carcinoma by promoting ATG2A and ATG14 translation. Publication Status: Online-Only, [RefSeq, PubMed]; Human hAtg2A can not function in autophagy in yeast, however, it is recruited to the preautophagosomal structure, [RefSeq, PubMed]; Lipid transfer protein involved in autophagosome assembly (PubMed:28561066, PubMed:30952800, PubMed:31271352). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and mediates direct lipid transfer from ER to IM for IM expansion (PubMed:30952800, PubMed:31271352). Binds to the ER exit site (ERES), which is the membrane source for autophagosome formation, and extracts phospholipids from the membrane source and transfers them to ATG9 (ATG9A or ATG9B) to the IM for membrane expansion (PubMed:30952800, PubMed:31271352). Lipid transfer activity is enhanced by WIPI1 and WDR45/WIPI4, which promote ATG2A-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes (PubMed:31271352). Also regulates lipid droplets morphology and distribution within the cell (PubMed:22219374, PubMed:28561066)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MGCG regulates glioblastoma tumorigenicity via hnRNPK/ATG2A and promotes autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Quantitative analysis of autophagy reveals the role of ATG9 and ATG2 in autophagosome formation., [RefSeq, PubMed]; These data provide evidence for additional roles of Atg2A and Atg14L in the formation of early autophagosomal membranes and also in lipid metabolism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43154;Q14DM2;Q6ZTV2;Q7Z6K8;Q8IVY5;Q8TAI8;Q96HH7", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0043495 protein-membrane adaptor activity;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0120013 lipid transfer activity", "go_cellular_component": "GO:0044232 organelle membrane contact site;GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane;GO:0034045 phagophore assembly site membrane;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0010508 positive regulation of autophagy;GO:0000422 autophagy of mitochondrion;GO:0034727 piecemeal microautophagy of the nucleus;GO:0061709 reticulophagy", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q2TAZ0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T5X7-1", "uniprot_id": [ { "id": "BEND3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T5X7", "type": "external" } ], "mass": 94475.0, "length": 828, "protein_name": "BEN domain-containing protein 3", "gene_name": "BEND3", "organism": "Human", "refseq_name": "BEN domain-containing protein 3", "refseq_ac": [ { "id": "NP_001073919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073919", "type": "external" } ], "gene_names_uniprotkb": "BEND3; KIAA1553", "gene_names_refseq": "BEND3; KIAA1553", "protein_names_uniprotkb": "BEN domain-containing protein 3", "protein_names_refseq": "BANP, E5R, and Nac1 (BEN) domain 3; BEN domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:57673)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;17081983;18452278;18669648;18767875;19007248;19664994;20068231;21406692;21914818;23301498;25114211;25218447;25400923;25600804;25755297;25772364;25892735;26100909;26481236;26507581;26992070;27487930;27920218;28228285;28832583;28904123;28977671;29632046;29769354;30379171;31217245;31530632;31844290;32157095;32938616;33912179;33968037;35051231;35217604;36241641", "class_list": "", "function": "Associates with heterochromatin and represses transcription, [RefSeq, PubMed]; BEND3 safeguards pluripotency by repressing differentiation-associated genes., [RefSeq, PubMed]; Characterization of the NTPR and BD1 interacting domains of the human PICH-BEND3 complex has been reported., [RefSeq, PubMed]; Data indicate BEND3 as a new interaction partner for PICH in mitosis, and have defined the residues within a TPR-BEN domain interface that mediate this interaction., [RefSeq, PubMed]; Data show that SUMOylated BANP, E5R, and Nac1 (BEN) domain 3 (BEND3) stabilizes NoRC component TTF-1-interacting protein 5 (Tip5)via association with ubiquitin specific protease 21 (USP21) debiquitinase., [RefSeq, PubMed]; Data shows that BEND3 associates with chromatin remodeling complexes to modulate gene expression and heterochromatin organization., [RefSeq, PubMed]; Propose that there is a link between binding of BEND3 to the CALR rs138452745 C-allele and removal of NFI binding site from this nucleotide, and the evolution of human-specific higher brain functions, [RefSeq, PubMed]; Three basic amino acid residues located in the N-terminal region of BEND3 (BEND356-58, KRK) are essential for its nuclear localization, suggesting that these residues play a role as a functional nuclear localization signals., [RefSeq, PubMed]; Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by controlling its USP21-mediated deubiquitination (PubMed:21914818, PubMed:26100909). Binds to unmethylated major satellite DNA and is involved in the recruitment of the Polycomb repressive complex 2 (PRC2) to major satellites (By similarity). Stimulates the ERCC6L translocase and ATPase activities (PubMed:28977671)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RRH2;Q9HCL9", "ec_number_list": [], "go_molecular_function": "GO:0000182 rDNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0000792 heterochromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0051260 protein homooligomerization;GO:0000183 rDNA heterochromatin formation;GO:0006346 DNA methylation-dependent constitutive heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q5T5X7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T6C5-1", "uniprot_id": [ { "id": "AT7L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T6C5", "type": "external" } ], "mass": 77181.0, "length": 722, "protein_name": "Ataxin-7-like protein 2", "gene_name": "ATXN7L2", "organism": "Human", "refseq_name": "ataxin-7-like protein 2 isoform 2", "refseq_ac": [ { "id": "NP_699171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699171", "type": "external" } ], "gene_names_uniprotkb": "ATXN7L2", "gene_names_refseq": "ATXN7L2", "protein_names_uniprotkb": "Ataxin-7-like protein 2", "protein_names_refseq": "ataxin 7-like 1; ataxin-7-like protein 2 isoform 2; ataxin-7-like protein 2", "tax_id": 9606, "disease": "spinocerebellar ataxia 7 (Disease Ontology:DOID:0050958)", "pathway": " (hsa:127002)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23186163;24714562;26728094;31217245;31844290;32157095;32983136;33912179;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 9696, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5T6C5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXN1-1", "uniprot_id": [ { "id": "ASPN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXN1", "type": "external" } ], "mass": 43417.0, "length": 380, "protein_name": "Asporin", "gene_name": "ASPN", "organism": "Human", "refseq_name": "asporin isoform 2 precursor", "refseq_ac": [ { "id": "NP_001180264", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180264", "type": "external" } ], "gene_names_uniprotkb": "ASPN; PLAP1; PRO241; SLRR1C", "gene_names_refseq": "ASPN; OS3; PLAP-1; PLAP1; SLRR1C", "protein_names_uniprotkb": "Asporin; PLAP-1; Periodontal ligament-associated protein 1", "protein_names_refseq": "asporin (LRR class 1); asporin isoform 2 precursor; asporin proteoglycan; periodontal ligament associated protein 1; small leucine-rich protein 1C", "tax_id": 9606, "disease": "ankylosing spondylitis (Disease Ontology:DOID:7147); osteoarthritis (Disease Ontology:DOID:8398); degenerative disc disease (Disease Ontology:DOID:90); osteoarthritis susceptibility 3 (MONDO:MONDO:0011923)", "pathway": " (hsa:54829); (R-HSA-3000178)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10022829;10339611;10673326;11084047;11152692;11152695;11237011;11259413;11587855;12225811;12975309;1376317;14715956;15075323;15296743;1544908;15640800;16293224;16493581;17517696;17588949;17603749;17804408;17827158;18304494;19159218;19589127;2059554;21642437;21789315;22134916;2364322;2412224;24190977;2420006;2430969;25505266;29557506;29741879;30429286;30459171;30524438;31092671;32157095;32350084;32983136;33392160;33968037;34357683;35051231;35251023;35580925;36614283;37006132;37074911;37217939;6193777;6439184;7499434;7527058;7542669;7559467;7685013;7693733;7852349;8002934;8440685;8798654;8943283;9252349;9294172;9341124;9346959;9685393;9949188", "class_list": "glycogene", "function": "ASPN is a lumbar-disc degeneration (LDD) gene in Asians, and common risk factors may be considered for osteoarthritis and LDD. GeneRIF: Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Characterization of the human ASPN promoter region revealed a region from -126 to -82 that is sufficient for full promoter activity; however, TGF-beta1 failed to increase activity through the ASPN promoter., [RefSeq, PubMed]; Gingival crevicular fluid periodontal ligament-associated protein-1, sclerostin, and tumor necrosis factor-alpha levels in periodontitis., [RefSeq, PubMed]; MicroRNA-631 Resensitizes Doxorubicin-Resistant Chondrosarcoma Cells by Targeting Apelin. Publication Status: Online-Only, [RefSeq, PubMed]; Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in osteoblast-driven collagen biomineralization activity., [UniProtKB, PubMed, PubMed]; The association of the ASPN D14 allele and knee OA has global relevance [meta-analysis] GeneRIF: Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; These findings provide another functional link between extracellular matrix proteins, TGF-beta activity and disease, suggesting new therapeutic strategies for osteoarthritis., [RefSeq, PubMed]; This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]., [RefSeq]; This study further highlighted the significance of asporin in osteoarthritis. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 409, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 124, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5TBF3;Q96K79;Q96LD0;Q9NXP3", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0042995 cell projection;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0030282 bone mineralization;GO:0070171 negative regulation of tooth mineralization;GO:1902617 response to fluoride", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "Q9BXN1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TC04-1", "uniprot_id": [ { "id": "ATAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TC04", "type": "external" } ], "mass": 10240.0, "length": 95, "protein_name": "Putative uncharacterized protein ATP1A1-AS1", "gene_name": "ATP1A1-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ATP1A1-AS1; ATP1A1OS; C1orf203", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ATP1A1-AS1; ATP1A1 antisense RNA 1; ATP1A1 antisense gene protein 1; ATP1A1 opposite strand protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5TC04-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6HA08-1", "uniprot_id": [ { "id": "ASTL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6HA08", "type": "external" } ], "mass": 45936.0, "length": 431, "protein_name": "Astacin-like metalloendopeptidase", "gene_name": "ASTL", "organism": "Human", "refseq_name": "astacin-like metalloendopeptidase precursor", "refseq_ac": [ { "id": "NP_001002036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002036", "type": "external" } ], "gene_names_uniprotkb": "ASTL", "gene_names_refseq": "ASTL; OOMD11; OZEMA11; SAS1B", "protein_names_uniprotkb": "Astacin-like metalloendopeptidase; 3.4.-.-; Oocyte astacin; Ovastacin; ZP2-proteinase", "protein_names_refseq": "ZP2-proteinase; astacin-like metallo-endopeptidase (M12 family); astacin-like metalloendopeptidase (M12 family); astacin-like metalloendopeptidase precursor; oocyte astacin; ovastacin; sperm acrosomal SLLP1 binding", "tax_id": 9606, "disease": "oocyte maturation defect 11 (MONDO:MONDO:0030490)", "pathway": " (hsa:431705)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "15087446;19913121;20628086;24038607;24715725;26327203;30808003;33629311;33968037;34704130;35051231;36215666", "class_list": "", "function": "ASTL is mutated in female infertility., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding., [UniProtKB, UniProtKB]; SAS1B protein [ovastacin] shows temporal and spatial restriction to oocytes in several eutherian orders and initiates translation at the primary to secondary follicle transition., [RefSeq, PubMed]; The SAS1B metalloproteinase is proposed as a prototype cancer-oocyte tumor surface neoantigen for development of targeted immunotherapeutics with limited on-target/off tumor effects predicted to be restricted to the population of growing oocytes. Erratum:[Oncotarget. 2017 Feb 28;8(9):16099. doi: 10.18632/oncotarget.15755. PMID: 28403580], [RefSeq, PubMed]; The detection of SAS1B in serum provides clues for early diagnosis of thyroid cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3KNT0", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding;GO:0070001 aspartic-type peptidase activity;GO:0070002 glutamic-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0060473 cortical granule", "go_biological_process": "GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0009566 fertilization;GO:0010954 positive regulation of protein processing;GO:0060468 prevention of polyspermy", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6HA08-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PL18-1", "uniprot_id": [ { "id": "ATAD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PL18", "type": "external" } ], "mass": 158554.0, "length": 1390, "protein_name": "ATPase family AAA domain-containing protein 2", "gene_name": "ATAD2", "organism": "Human", "refseq_name": "ATPase family AAA domain-containing protein 2", "refseq_ac": [ { "id": "NP_054828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054828", "type": "external" } ], "gene_names_uniprotkb": "ATAD2; L16; PRO2000", "gene_names_refseq": "ANCCA; ATAD2; CT137; PRO2000", "protein_names_uniprotkb": "ATPase family AAA domain-containing protein 2; 3.6.1.-; AAA nuclear coregulator cancer-associated protein; ANCCA", "protein_names_refseq": "AAA nuclear coregulator cancer-associated protein; ATPase family AAA domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:29028); (R-HSA-8866910)", "pathway_count": 2, "publication_count": 134, "publication_id_list": "10497269;10648798;11237011;11483580;14744778;15302935;15334068;15721472;15870067;16709241;17076897;17081983;17660802;17924679;17998543;18212344;18452278;18669648;19007248;19318566;19413330;19651622;19664995;19690332;19691289;19843847;20068231;20581866;21406692;22464331;22544926;22617051;23186163;23684889;23783831;24275569;24714562;24715725;25505266;25576301;25593309;25645385;25772240;25880248;26154972;26308378;26728094;26811146;26832794;26992070;27600516;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34093574;34171305;34185709;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36008934;36010968;36215666;36241641;36284347;36479043;37595446;37770645;37938771;38748254;39894887;40136647;40914422;7891714;8895516;9162057;9182571;9687504;9850080", "class_list": "", "function": "A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]., [RefSeq]; ANCCA associates directly with ERalpha and ACTR. It is selectively recruited to a subset of ERalpha target genes (cyclin D1, c-myc, and E2F1) and is required for their estrogen-induced expression and breast cancer cell proliferation., [RefSeq, PubMed]; ATAD2 Upregulation Promotes Tumor Growth and Angiogenesis in Endometrial Cancer and Is Associated with Its Immune Infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; CircATAD2 mitigates CD8[+] T cells antitumor immune surveillance in breast cancer via IGF2BP3/m[6]A/PD-L1 manner. Publication Status: Online-Only, [RefSeq, PubMed]; May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target gene promoters. May be required for histone hyperacetylation. Involved in the estrogen-induced cell proliferation and cell cycle progression of breast cancer cells., [UniProtKB, PubMed]; MicroRNA-139-5p suppresses non-small cell lung cancer progression by targeting ATAD2., [RefSeq, PubMed]; Structure of the human ATAD2 AAA+ histone chaperone reveals mechanism of regulation and inter-subunit communication. Publication Status: Online-Only, [RefSeq, PubMed]; Tumor-Promoting ATAD2 and Its Preclinical Challenges. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q14CR1;Q658P2;Q68CQ0;Q6PJV6;Q8N890;Q9UHS5", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045893 positive regulation of DNA-templated transcription;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0006334 nucleosome assembly;GO:0006337 nucleosome disassembly", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q6PL18-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZP68-1", "uniprot_id": [ { "id": "ATPUN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZP68", "type": "external" } ], "mass": 13416.0, "length": 121, "protein_name": "Putative protein ATP11AUN", "gene_name": "ATP11AUN", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ATP11AUN; C13orf35", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein ATP11AUN; Putative ATP11A upstream neighbor protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "29557506", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZP68-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WG3-1", "uniprot_id": [ { "id": "ATCAY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WG3", "type": "external" } ], "mass": 42120.0, "length": 371, "protein_name": "Caytaxin", "gene_name": "ATCAY", "organism": "Human", "refseq_name": "caytaxin", "refseq_ac": [ { "id": "NP_149053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149053", "type": "external" } ], "gene_names_uniprotkb": "ATCAY; KIAA1872", "gene_names_refseq": "ATCAY; BNIP-H; CLAC", "protein_names_uniprotkb": "Caytaxin; Ataxia cayman type protein; BNIP-2-homology; BNIP-H", "protein_names_refseq": "ATCAY, caytaxin; BNIP-2-homolgy; BNIP-2-homology; Cayman ataxia; ataxia cayman type protein; ataxia cerebellar Cayman type; caytaxin", "tax_id": 9606, "disease": "cerebellar ataxia (Disease Ontology:DOID:0050753); Cayman type cerebellar ataxia (Disease Ontology:DOID:0060694); dystonia (Disease Ontology:DOID:543)", "pathway": " (hsa:85300)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;14556008;16275660;16899818;18628984;21369758;23226316;26992070;29449188;29493099;30315122;33592498", "class_list": "", "function": "Caytaxin's role in maintaining normal neuronal function, [RefSeq, PubMed]; Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites., [UniProtKB, PubMed]; Novel homozygous variants in ATCAY, MCOLN1, and SACS in a complex movement disorder in five consanguineous Pakistani families., [RefSeq, PubMed]; This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NAQ2;Q8TAQ3;Q96HC6;Q96JF5", "ec_number_list": [], "go_molecular_function": "GO:0019894 kinesin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030424 axon;GO:0030425 dendrite;GO:0030426 growth cone;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0031175 neuron projection development;GO:0006915 apoptotic process;GO:0032880 regulation of protein localization;GO:0048311 mitochondrion distribution;GO:2000212 negative regulation of glutamate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q86WG3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y27-1", "uniprot_id": [ { "id": "BAGE5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y27", "type": "external" } ], "mass": 4711.0, "length": 43, "protein_name": "B melanoma antigen 5", "gene_name": "BAGE5", "organism": "Human", "refseq_name": "B melanoma antigen 5 precursor", "refseq_ac": [ { "id": "NP_872290", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872290", "type": "external" } ], "gene_names_uniprotkb": "BAGE5", "gene_names_refseq": "BAGE5; CT2.5", "protein_names_uniprotkb": "B melanoma antigen 5; CT2.5; Cancer/testis antigen 2.5", "protein_names_refseq": "B melanoma antigen 5 precursor; B melanoma antigen 5; B melanoma antigen family member 5; cancer/testis antigen 2.5; cancer/testis antigen family 2, member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:85316)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "12461691;12676563", "class_list": "", "function": "Unknown. Candidate gene encoding tumor antigens., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86Y27-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXM2-1", "uniprot_id": [ { "id": "BAP18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXM2", "type": "external" } ], "mass": 17900.0, "length": 172, "protein_name": "BPTF-associated chromatin complex component 1", "gene_name": "BACC1", "organism": "Human", "refseq_name": "BPTF-associated chromatin complex component 1 isoform 1", "refseq_ac": [ { "id": "NP_001136270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136270", "type": "external" } ], "gene_names_uniprotkb": "BACC1; BAP18; C17orf49", "gene_names_refseq": "BACC1; BAP18; C17orf49; HEPIS", "protein_names_uniprotkb": "BPTF-associated chromatin complex component 1; BPTF-associated protein of 18 kDa; Chromatin complexes subunit BAP18", "protein_names_refseq": "BPTF-associated chromatin complex component 1 isoform 1; BPTF-associated protein of 18 kDa; MLL1/MLL complex subunit C17orf49; chromatin complexes subunit BAP18; human embryo lung cellular protein interacting with SARS-CoV nsp-10", "tax_id": 9606, "disease": "", "pathway": " (hsa:124944)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;15146197;15960975;16964243;17287340;18212344;18452278;18669648;18691976;18767875;19413330;19415658;19664994;19664995;20058876;20068231;20850016;21740066;22544926;23301498;23481700;25418920;25645385;26375851;26992070;28228285;28832583;29242379;29351928;29393594;29493099;29508533;29557506;29786170;30315122;30484775;30524438;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;32986841;33141586;33298915;33592498;33936100;33968037;33981976;34019948;34171305;34509645;34932366;35051231;35318648;35580925;35587057;36010968;36215666;36241641;36284347;36828916;37938771;38042310;40596516", "class_list": "", "function": "An H3K4me3 reader, BAP18 as an adaptor of COMPASS-like core subunits co-activates ERalpha action and associates with the sensitivity of antiestrogen in breast cancer., [RefSeq, PubMed]; BAP18 acting as a novel peroxisome proliferator-activated receptor alpha co-regulator contributes to hepatocellular carcinoma progression., [RefSeq, PubMed]; BAP18 facilitates CTCF-mediated chromatin accessible to regulate enhancer activity in breast cancer., [RefSeq, PubMed]; BAP18 induces growth of non-small-cell lung carcinoma through upregulating transcriptional level of CCND1/2., [RefSeq, PubMed]; Component of chromatin complexes such as the MLL1/MLL and NURF complexes., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DIV3;C9J4G0;E9PB29", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0071339 MLL1 complex;GO:0016589 NURF complex;GO:0005634 nucleus", "go_biological_process": "GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8IXM2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZT6-1", "uniprot_id": [ { "id": "ASPM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZT6", "type": "external" } ], "mass": 409800.0, "length": 3477, "protein_name": "Abnormal spindle-like microcephaly-associated protein", "gene_name": "ASPM", "organism": "Human", "refseq_name": "abnormal spindle-like microcephaly-associated protein isoform 2", "refseq_ac": [ { "id": "NP_001193775", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193775", "type": "external" } ], "gene_names_uniprotkb": "ASPM; MCPH5", "gene_names_refseq": "ASPM; ASP; Calmbp1; MCPH5", "protein_names_uniprotkb": "Abnormal spindle-like microcephaly-associated protein; Abnormal spindle protein homolog; Asp homolog", "protein_names_refseq": "abnormal spindle microtubule assembly; abnormal spindle-like microcephaly-associated protein isoform 2; abnormal spindle-like microcephaly-associated protein; asp (abnormal spindle) homolog, microcephaly associated", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 5 (Disease Ontology:DOID:0070280); autosomal recessive primary microcephaly (Disease Ontology:DOID:0070296); stomach cancer (Disease Ontology:DOID:10534); microcephaly (Disease Ontology:DOID:10907); ovary epithelial cancer (Disease Ontology:DOID:2152); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:259266)", "pathway_count": 1, "publication_count": 122, "publication_id_list": "11237011;12355089;12571366;14574646;14704186;15972725;16565220;16673149;17081983;18204051;18669648;18691976;19007248;19651622;19690332;19691289;20068231;22645359;22989186;23186163;23481700;24397554;24714562;24715725;25418920;25576301;25880248;25892735;26024233;26154972;26375851;26811146;26929215;26992070;27535533;27600516;27846572;27862975;27869121;27893789;27920218;28063628;28218747;28228285;28436967;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30524438;30568303;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34093574;34171305;34185709;34357683;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;36581221;37217939;37309171;37340703;37938771;38279565;38576051;39097533;39894887", "class_list": "", "function": "ASPM overexpression enhances cellular proliferation and migration and predicts worse prognosis for papillary renal cell carcinoma., [RefSeq, PubMed]; ASPM stabilizes the NOTCH intracellular domain 1 and promotes oncogenesis by blocking FBXW7 binding in hepatocellular carcinoma cells., [RefSeq, PubMed]; Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depend on the association with the katanin complex formed by KATNA1 and KATNB1. Enhances the microtubule lattice severing activity of KATNA1 by recruiting the katanin complex to microtubules. Can block microtubule minus-end growth and reversely this function can be enhanced by the katanin complex (PubMed:28436967). May have a preferential role in regulating neurogenesis., [UniProtKB, PubMed, PubMed, PubMed]; Microcephalin and ASPM determine the size of the human brain, [RefSeq, PubMed]; Nrf2/ASPM axis regulated vasculogenic mimicry formation in hepatocellular carcinoma under hypoxia. Erratum:[J Gastroenterol. 2025 Jun;60(6):808. doi: 10.1007/s00535-025-02246-8. PMID: 40266294], [RefSeq, PubMed]; RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated beta-catenin signaling in cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Similar to aspm of Drosophila. Regulates brain size by regulating mitotic spindle activity in neuronal progenitor cells., [RefSeq, PubMed]; This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 45, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 98, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q4G1H1;Q5VYL3;Q86UX4;Q8IUL2;Q8IZJ7;Q8IZJ8;Q8IZJ9;Q8N4D1;Q9NVS1;Q9NVT6", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0016324 apical plasma membrane;GO:0030496 midbody", "go_biological_process": "GO:0051301 cell division;GO:0051653 spindle localization;GO:0007051 spindle organization;GO:0051445 regulation of meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q8IZT6-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDZ0-1", "uniprot_id": [ { "id": "BEND2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDZ0", "type": "external" } ], "mass": 87919.0, "length": 799, "protein_name": "BEN domain-containing protein 2", "gene_name": "BEND2", "organism": "Human", "refseq_name": "BEN domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001171696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171696", "type": "external" } ], "gene_names_uniprotkb": "BEND2; CXorf20", "gene_names_refseq": "BEND2; CXorf20", "protein_names_uniprotkb": "BEN domain-containing protein 2", "protein_names_refseq": "BEN domain-containing protein 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:139105)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "29557506;30379171;31429579;31863478;34171305;34825267;36010968;36604386", "class_list": "", "function": "EWSR1-BEND2 fusion defines an epigenetically distinct subtype of astroblastoma., [RefSeq, PubMed]; Early ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma. Review article, [RefSeq, PubMed]; Spinal cord astroblastoma with an EWSR1-BEND2 fusion classified as a high-grade neuroepithelial tumour with MN1 alteration., [RefSeq, PubMed]; This gene encodes a protein which has two BEN domains in the C-terminus. These domains are found in proteins which participate in protein and DNA interactions which occur during chromatin restructuring or transcription. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PFY2;Q4V9S2;Q5JXE5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8NDZ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE57-1", "uniprot_id": [ { "id": "ATS16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE57", "type": "external" } ], "mass": 136203.0, "length": 1224, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 16", "gene_name": "ADAMTS16", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 16 preproprotein", "refseq_ac": [ { "id": "NP_620687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620687", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS16; KIAA2029", "gene_names_refseq": "ADAMTS16s; ADAMTS16", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 16; 3.4.24.-; ADAM-TS 16; ADAM-TS16; ADAMTS-16", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 16 preproprotein; ADAM-TS 16; ADAM-TS16; ADAMTS-16; a disintegrin and metalloproteinase with thrombospondin motifs 16; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); cryptorchidism (Disease Ontology:DOID:11383); male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:170690); (R-HSA-1474228); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 4, "publication_count": 69, "publication_id_list": "10229672;10386589;10706100;10809722;10986281;11067851;11375993;11867212;11872628;12727852;12843408;14973287;15234972;15591058;15958533;16133547;16464858;1649600;16507336;16631740;16825321;1698775;1707285;17322306;17332331;17354228;17519324;17608959;17924679;18434311;18658137;18720094;19010778;19423552;19571574;19657146;19714641;19796186;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22588082;23035980;23845380;23889335;25544610;27846572;28088271;28790370;30081852;32161166;33981976;35051231;37217939;38018454;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107", "class_list": "", "function": "ADAMTS16 is novel gene with cancer-specific promoter hypermethylation in colorectal cancer, lung cancer and oral squamous cell carcinoma patients implicating ADAMTS16 as potential biomarker for these tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Blood pressure is associated with SNPs of ADAMTS16 in human. Erratum:[Hum Mol Genet. 2011 Nov 1;20(21):4297. Dhindaw, Seema [added]], [RefSeq, PubMed]; Comparison of the effects of C-terminal truncation on the GAG-binding properties and aggrecanase activity of ADAMTS-5 relative to three other ADAMTS family members, ADAMTS-9, ADAMTS-16 and ADAMTS-18, [RefSeq, PubMed]; Extracellular Matrix Disorganization Caused by ADAMTS16 Deficiency Leads to Bicuspid Aortic Valve With Raphe Formation., [RefSeq, PubMed]; The pregnancy loss rate seems to be affected by both ADAMTS-3 and ADAMTS-16., [RefSeq, PubMed]; These studies provide the first evidence that ADAMTS-16 is an active protease and suggest a physiological role of ADAMTS-16 in ovarian follicles, at least during the pre-ovulatory phase., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may inhibit chondrosarcoma cell proliferation and migration. This gene may regulate blood pressure. [provided by RefSeq, May 2016]., [RefSeq]; Through a combination of sequencing studies on eighteen North Carolina macular dystrophy families, two novel overlapping duplications at the MCDR3 locus, in a gene desert downstream of IRX1 and upstream of ADAMTS16, have been reported. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 85, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "C6G490;Q8IVE2", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0003073 regulation of systemic arterial blood pressure;GO:1902017 regulation of cilium assembly;GO:0048232 male gamete generation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8TE57-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUZ0-1", "uniprot_id": [ { "id": "BCL7C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUZ0", "type": "external" } ], "mass": 23468.0, "length": 217, "protein_name": "B-cell CLL/lymphoma 7 protein family member C", "gene_name": "BCL7C", "organism": "Human", "refseq_name": "B-cell CLL/lymphoma 7 protein family member C isoform 1", "refseq_ac": [ { "id": "NP_001273455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273455", "type": "external" } ], "gene_names_uniprotkb": "BCL7C", "gene_names_refseq": "BCL7C; SMARCJ3", "protein_names_uniprotkb": "B-cell CLL/lymphoma 7 protein family member C", "protein_names_refseq": "B-cell CLL/lymphoma 7 protein family member C isoform 1; B-cell CLL/lymphoma 7 protein family member C; B-cell CLL/lymphoma 7C; BCL tumor suppressor 7C; BCL7C, BAF complex component", "tax_id": 9606, "disease": "", "pathway": " (hsa:9274); (R-HSA-9824585); (R-HSA-9845323); (R-HSA-9933937); (R-HSA-9933939); (R-HSA-9933946); (R-HSA-9933947); (R-HSA-9934037)", "pathway_count": 8, "publication_count": 82, "publication_id_list": "10078207;10587587;11237011;11532965;11856727;11964381;12062444;12368262;1321344;15302935;15345747;1537333;1537334;15543135;15640446;15695812;15729346;15985610;16265664;16303920;17081983;17182843;17498659;17640523;17952075;18220336;18452278;18483556;18491316;18669648;18697795;18765789;18809673;18812475;19389701;19413330;19651622;19690332;19717472;20068231;20166139;21406692;21555454;22464331;22952240;23186163;23644491;23785148;24267888;24275569;25418920;25505266;25576301;26365797;26601204;26694611;26992070;28533407;28832583;29242379;29374058;29557506;30429286;30515787;30779550;32157095;33100333;33306126;33936100;33981976;34171305;34465901;35051231;35580127;35580925;38359823;7813420;8306979;8804307;8921401;9758418;9931421", "class_list": "", "function": "BCL7C suppresses ovarian cancer growth by inactivating mutant p53., [RefSeq, PubMed]; May play an anti-apoptotic role., [UniProtKB]; This gene is identified by the similarity of its product to the N-terminal region of BCL7A protein. The BCL7A protein is encoded by the gene known to be directly involved in a three-way gene translocation in a Burkitt lymphoma cell line. The function of this gene has not yet been determined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43770;Q6PD89", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016514 SWI/SNF complex;GO:0000785 chromatin", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:2000819 regulation of nucleotide-excision repair;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8WUZ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXX7-1", "uniprot_id": [ { "id": "AUTS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXX7", "type": "external" } ], "mass": 138982.0, "length": 1259, "protein_name": "Autism susceptibility gene 2 protein", "gene_name": "AUTS2", "organism": "Human", "refseq_name": "autism susceptibility gene 2 protein isoform 2", "refseq_ac": [ { "id": "NP_001120703", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120703", "type": "external" } ], "gene_names_uniprotkb": "AUTS2; KIAA0442", "gene_names_refseq": "AUTS2; FBRSL2; MRD26", "protein_names_uniprotkb": "Autism susceptibility gene 2 protein", "protein_names_refseq": "AUTS2, activator of transcription and developmental regulator; autism susceptibility candidate 2; autism susceptibility gene 2 protein isoform 2; autism susceptibility gene 2 protein; autism-related protein 1", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autosomal dominant intellectual developmental disorder (Disease Ontology:DOID:0060307); autosomal dominant intellectual developmental disorder 26 (Disease Ontology:DOID:0070056); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:26053); (R-HSA-8939243)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11237011;12160723;16917507;18695000;19086053;19546859;19567891;19664994;19690332;20506188;21406692;22325351;22984286;23332918;23481700;24008202;24275569;24715725;25519132;25576301;25892735;26154972;28121444;28904123;29351928;29557506;31092671;31217245;31530632;31844290;31848261;32157095;32357974;32502341;32938616;33141586;33298915;33912179;33936100;34171305;34211107;34561969;35051231;35802027;36215666;36864756;37816306;37938771;38665916;39174599", "class_list": "", "function": "AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/beta-catenin pathway. Publication Status: Online-Only, [RefSeq, PubMed]; AUTS2, its discovery, expression, association with autism and other neurological and non-neurological traits, implication in human evolution, function, regulation, and genetic pathways, are reviewed. Review article, [RefSeq, PubMed]; Cerebral organoids containing an AUTS2 missense variant model microcephaly., [RefSeq, PubMed]; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:25519132). The PRC1-like complex that contains PCGF5, RNF2, CSNK2B, RYBP and AUTS2 has decreased histone H2A ubiquitination activity, due to the phosphorylation of RNF2 by CSNK2B (PubMed:25519132). As a consequence, the complex mediates transcriptional activation (PubMed:25519132). In the cytoplasm, plays a role in axon and dendrite elongation and in neuronal migration during embryonic brain development. Promotes reorganization of the actin cytoskeleton, lamellipodia formation and neurite elongation via its interaction with RAC guanine nucleotide exchange factors, which then leads to the activation of RAC1 (By similarity)., [UniProtKB, PubMed, UniProtKB]; Isolated loss of the AUTS2 long isoform, brain-wide or targeted to Calbindin-lineage cells, generates a specific suite of brain, behavioral, and molecular pathologies., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Mol Psychiatry. 2010 Nov;15(11):1122], [RefSeq, PubMed]; Structural polymorphism driven by a register shift in a CGAG-rich region found in the promoter of the neurodevelopmental regulator AUTS2 gene., [RefSeq, PubMed]; This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4D1Y9;L7QET3;L7QF75;Q5D049;Q6PJU5;Q9Y4F2", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005856 cytoskeleton;GO:0030426 growth cone;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001764 neuron migration;GO:0030036 actin cytoskeleton organization;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q8WXX7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FT7-4", "uniprot_id": [ { "id": "ASIC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FT7", "type": "external" } ], "mass": 59278.0, "length": 539, "protein_name": "Acid-sensing ion channel 4", "gene_name": "ASIC4", "organism": "Human", "refseq_name": "acid-sensing ion channel 4 isoform 2", "refseq_ac": [ { "id": "NP_878267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_878267", "type": "external" } ], "gene_names_uniprotkb": "ASIC4; ACCN4", "gene_names_refseq": "ACCN4; ASIC4; BNAC4", "protein_names_uniprotkb": "Acid-sensing ion channel 4; ASIC4; Amiloride-sensitive cation channel 4, pituitary; Amiloride-sensitive cation channel 4", "protein_names_refseq": "acid sensing ion channel family member 4; acid-sensing (proton-gated) ion channel family member 4; acid-sensing ion channel 4 isoform 2; acid-sensing ion channel 4; amiloride-sensitive cation channel 4, pituitary; amiloride-sensitive cation channel family member 4, pituitary; brain sodium channel 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:55515); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;10852210;11182090;11571555;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26359375;26562072;26667795;28071645;28154142;28790369;28832583;31154438;36284347;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Acid-sensing ion channel (ASIC) 4 predominantly localizes to an early endosome-related organelle upon heterologous expression Publication Status: Online-Only, [RefSeq, PubMed]; Data show that transfected ASIC4 is targeted to the plasma membrane in CHO-K1 cells, where it associates with ASIC1a and downregulates exogenous ASIC1a expression., [RefSeq, PubMed]; Does not exhibit measurable stand-alone pH-gated sodium channel activity but may form pH-gated heterotrimeric sodium channels. Its activity could also depend on alternative gating mechanisms., [UniProtKB, UniProtKB]; This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q53SB7;Q6GMS1;Q6PIN9;Q9NQA4", "ec_number_list": [], "go_molecular_function": "GO:0005272 sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0035725 sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q96FT7-4", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PG8-2", "uniprot_id": [ { "id": "BBC3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PG8", "type": "external" } ], "mass": 26498.0, "length": 261, "protein_name": "Bcl-2-binding component 3, isoforms 3/4", "gene_name": "BBC3", "organism": "Human", "refseq_name": "bcl-2-binding component 3 isoform 1", "refseq_ac": [ { "id": "NP_001120712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120712", "type": "external" } ], "gene_names_uniprotkb": "BBC3; PUMA", "gene_names_refseq": "BBC3; JFY-1; JFY1; PUMA", "protein_names_uniprotkb": "Bcl-2-binding component 3, isoforms 3/4; JFY-1; p53 up-regulated modulator of apoptosis", "protein_names_refseq": "bcl-2-binding component 3 isoform 1; p53 up-regulated modulator of apoptosis; p53-upregulated modulator of apoptosis", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224); intermittent claudication (Disease Ontology:DOID:3669); lung non-small cell carcinoma (Disease Ontology:DOID:3908)", "pathway": " (hsa:27113)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11463392;12574499;12963126;19641508;27600516;30429286;31844290;32938616;33298915;35051231;36122664;36508676", "class_list": "", "function": "Does not affect cell growth., [UniProtKB, PubMed]; PUMA is a critical mediator of p53-dependent & -independent apoptosis induced by a wide variety of stimuli.It directly binds and antagonizes all known antiapoptotic Bcl-2 family members to induce mitochondrial dysfunction & caspase activation. Review. Review article, [RefSeq, PubMed]; PUMA overexpression dissociates thioredoxin from ASK1 to activate the JNK/BCL-2/BCL-XL pathway augmenting apoptosis in ovarian cancer., [RefSeq, PubMed]; PUMA suppresses tumor cell growth in head/neck cancer, but it does not appear to be a direct target of inactivation in head and neck tumorigenesis., [RefSeq, PubMed]; Role in mediating the apoptotic response to p53 in colorectal cancer cells, [RefSeq, PubMed]; Synthetical lethality of Werner helicase and mismatch repair deficiency is mediated by p53 and PUMA in colon cancer. Erratum:[Proc Natl Acad Sci U S A. 2025 Nov 25;122(47):e2529649122. doi: 10.1073/pnas.2529649122. PMID: 41259151], [RefSeq, PubMed]; This gene encodes a member of the BCL-2 family of proteins. This family member belongs to the BH3-only pro-apoptotic subclass. The protein cooperates with direct activator proteins to induce mitochondrial outer membrane permeabilization and apoptosis. It can bind to anti-apoptotic Bcl-2 family members to induce mitochondrial dysfunction and caspase activation. Because of its pro-apoptotic role, this gene is a potential drug target for cancer therapy and for tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0006915 apoptotic process;GO:0097194 execution phase of apoptosis;GO:0001836 release of cytochrome c from mitochondria;GO:0090200 positive regulation of release of cytochrome c from mitochondria;GO:2001244 positive regulation of intrinsic apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96PG8-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBU1-1", "uniprot_id": [ { "id": "BARX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBU1", "type": "external" } ], "mass": 27298.0, "length": 254, "protein_name": "Homeobox protein BarH-like 1", "gene_name": "BARX1", "organism": "Human", "refseq_name": "homeobox protein BarH-like 1", "refseq_ac": [ { "id": "NP_067545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067545", "type": "external" } ], "gene_names_uniprotkb": "BARX1", "gene_names_refseq": "BARX1", "protein_names_uniprotkb": "Homeobox protein BarH-like 1", "protein_names_refseq": "BarH-like homeobox 1; homeobox protein BarH-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56033)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10995576;17486624;18708738;18978678;32502341;33026187;33451979;35051231;36927457;37587140;38290639;9804553", "class_list": "", "function": "BARX1 promotes osteosarcoma cell proliferation and invasion by regulating HSPA6 expression. Publication Status: Online-Only, [RefSeq, PubMed]; BARX1 repressed FOXF1 expression and activated Wnt/beta-catenin signaling pathway to drive lung adenocarcinoma., [RefSeq, PubMed]; Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families., [RefSeq, PubMed]; HAND1 and BARX1 Act as Transcriptional and Anatomic Determinants of Malignancy in Gastrointestinal Stromal Tumor., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PITX2, BARX1, and FOXC1 mutations were absent in De Hauwere syndrome and suggest that De Hauwere syndrome is caused by a different gene., [RefSeq, PubMed]; Regional expression of barx1 was observed in epithelium before mixed dentition, while during mixed dentition gene appeared in hyaline cartilage. Expression of barx1 appears in cleft lip palate affected structures mainly in mixed dentition., [RefSeq, PubMed]; This gene encodes a member of the Bar subclass of homeobox transcription factors. Studies of the mouse and chick homolog suggest the encoded protein may play a role in developing teeth and craniofacial mesenchyme of neural crest origin. The protein may also be associated with differentiation of stomach epithelia. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity (By similarity). Binds to a regulatory module of the NCAM promoter., [UniProtKB, PubMed]; ZFP36 loss-mediated BARX1 stabilization promotes malignant phenotypes by transactivating master oncogenes in NSCLC. Erratum:[Cell Death Dis. 2025 May 22;16(1):410. doi: 10.1038/s41419-025-07718-6. PMID: 40404626] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P2R4;Q96GH8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9HBU1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD20-1", "uniprot_id": [ { "id": "AT131_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD20", "type": "external" } ], "mass": 132955.0, "length": 1204, "protein_name": "Endoplasmic reticulum transmembrane helix translocase", "gene_name": "ATP13A1", "organism": "Human", "refseq_name": "endoplasmic reticulum transmembrane helix translocase", "refseq_ac": [ { "id": "NP_065143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065143", "type": "external" } ], "gene_names_uniprotkb": "ATP13A1; ATP13A; CGI-152; KIAA1825", "gene_names_refseq": "ATP13A1; ATP13A; CGI-152", "protein_names_uniprotkb": "Endoplasmic reticulum transmembrane helix translocase; 7.4.2.-; Endoplasmic reticulum P5A-ATPase", "protein_names_refseq": "ATPase type 13A1; cation transporting ATPase; endoplasmic reticulum P5A-ATPase; endoplasmic reticulum transmembrane helix translocase; manganese-transporting ATPase 13A1; probable cation-transporting ATPase 13A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57130); (R-HSA-936837)", "pathway_count": 2, "publication_count": 122, "publication_id_list": "10.1101/2023.09.13.557529;10401004;10484781;10615129;10767338;11237011;15831496;15919184;15925480;16182249;16335952;1656976;16700898;17081983;18077418;18669648;18723824;19007248;19345671;19651622;19691289;19878721;19913121;20068230;20068231;20628086;2160952;22186024;22223895;23186163;23196729;23481700;24275569;24392018;24714562;24715725;25576301;25645385;25892735;26154972;26375851;26728094;26992070;27067231;27452731;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28855257;28904123;28940097;29242379;29288388;29314611;29351928;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32387766;32502341;32897882;32938616;32973005;32983136;33141586;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34968463;35051231;35154160;35318648;35561310;35580925;36010968;36241641;36264797;36284347;36581221;38665916;38723633;40596516;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "An ATP13A1-assisted topogenesis pathway for folding multi-spanning membrane proteins., [RefSeq, PubMed]; Endoplasmic reticulum translocase required to remove mitochondrial transmembrane proteins mistargeted to the endoplasmic reticulum (PubMed:32973005, PubMed:36264797). Acts as a dislocase that mediates the ATP-dependent extraction of mislocalized mitochondrial transmembrane proteins from the endoplasmic reticulum membrane (PubMed:32973005). Specifically binds mitochondrial tail-anchored transmembrane proteins: has an atypically large substrate-binding pocket that recognizes and binds moderately hydrophobic transmembranes with short hydrophilic lumenal domains (PubMed:32973005)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The P5-type ATPase ATP13A1 modulates major histocompatibility complex I-related protein 1 (MR1)-mediated antigen presentation., [RefSeq, PubMed]; The endoplasmic reticulum P5A-ATPase is a transmembrane helix dislocase., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KPJ2;B3KTA7;Q6NT90;Q6ZMG7;Q9H6C6", "ec_number_list": [ { "id": "7.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.4.2.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0015410 ABC-type manganese transporter activity;GO:0019829 ATPase-coupled monoatomic cation transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0015031 protein transport;GO:0055085 transmembrane transport;GO:0006874 intracellular calcium ion homeostasis;GO:0034220 monoatomic ion transmembrane transport;GO:0140569 extraction of mislocalized protein from ER membrane", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q9HD20-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVI7-2", "uniprot_id": [ { "id": "ATD3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVI7", "type": "external" } ], "mass": 66218.0, "length": 586, "protein_name": "ATPase family AAA domain-containing protein 3A", "gene_name": "ATAD3A", "organism": "Human", "refseq_name": "ATPase family AAA domain-containing protein 3A isoform 2", "refseq_ac": [ { "id": "NP_001164006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164006", "type": "external" } ], "gene_names_uniprotkb": "ATAD3A", "gene_names_refseq": "ATAD3A; HAYOS; PHRINL", "protein_names_uniprotkb": "ATPase family AAA domain-containing protein 3A; 3.6.1.-", "protein_names_refseq": "ATPase family AAA domain-containing protein 3A isoform 2; ATPase family AAA domain-containing protein 3A", "tax_id": 9606, "disease": "Harel-Yoon syndrome (Disease Ontology:DOID:0081395); neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome (Disease Ontology:DOID:0081396)", "pathway": " (hsa:55210)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1101/2023.09.13.557529;17210950;18063578;18691976;19608861;20154147;20332122;20349121;20351179;22453275;22664726;23186163;27640307;29053797;31217245;31522117;31727539;34357683;34561969;37832546;38018291;38050826;38092275;39116259", "class_list": "", "function": "'ATAD3C regulates ATAD3A assembly and function in the mitochondrial membrane'., [RefSeq, PubMed]; Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level (PubMed:17210950, PubMed:20154147, PubMed:22453275, PubMed:31522117, PubMed:37832546, PubMed:39116259). May play an important role in mitochondrial protein synthesis (PubMed:22453275). May also participate in mitochondrial DNA replication (PubMed:17210950). May bind to mitochondrial DNA D-loops and contribute to nucleoid stability (PubMed:17210950). Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis (PubMed:22453275). Involved in mitochondrial-mediated antiviral innate immunity (PubMed:31522117). Required to protect mitochondria from the PERK-mediated unfolded protein response: specifically inhibits the activity of EIF2AK3/PERK at mitochondria-endoplasmic reticulum contact sites, thereby providing a safe haven for mitochondrial protein translation during endoplasmic reticulum stress (PubMed:39116259). Ability to inhibit EIF2AK3/PERK is independent of its ATPase activity (PubMed:39116259). Also involved in the mitochondrial DNA damage response by promoting signaling between damaged genomes and the mitochondrial membrane, leading to activation of the integrated stress response (ISR) (PubMed:37832546)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of ATAD3A as a key regulator in non-small cell lung cancer by promoting STAT3-induced cell proliferation and tumor angiogenesis., [RefSeq, PubMed]; PERK-ATAD3A interaction provides a subcellular safe haven for protein synthesis during ER stress., [RefSeq, PubMed]; Results suggest that mitochondrial DNA displacement loops serve to recruit ATAD3 protein for the purpose of forming or segregating mitochondrial nucleoids., [RefSeq, PubMed]; The value of ATAD3A as a potential biomarker for bladder cancer., [RefSeq, PubMed]; This gene encodes a ubiquitously expressed mitochondrial membrane protein that contributes to mitochondrial dynamics, nucleoid organization, protein translation, cell growth, and cholesterol metabolism. This gene is a member of the ATPase family AAA-domain containing 3 gene family which, in humans, includes two other paralogs. Naturally occurring mutations in this gene are associated with distinct neurological syndromes including Harel-Yoon syndrome. High-level expression of this gene is associated with poor survival in breast cancer patients. A homozygous knockout of the orthologous gene in mice results in embryonic lethality at day 7.5 due to growth retardation and defective development of the trophoblast lineage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KPB3;D2K8Q1;G3V1I6;Q5SV23;Q8N275;Q96A50", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0030291 protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0042645 mitochondrial nucleoid;GO:0044233 mitochondria-associated endoplasmic reticulum membrane contact site", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006974 DNA damage response;GO:0001558 regulation of cell growth;GO:0007005 mitochondrion organization;GO:1903898 negative regulation of PERK-mediated unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9NVI7-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UII2-1", "uniprot_id": [ { "id": "ATIF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UII2", "type": "external" } ], "mass": 12249.0, "length": 106, "protein_name": "ATPase inhibitor, mitochondrial", "gene_name": "ATP5IF1", "organism": "Human", "refseq_name": "ATPase inhibitor, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_057395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057395", "type": "external" } ], "gene_names_uniprotkb": "ATP5IF1; ATPIF1; ATPI", "gene_names_refseq": "ATP5IF1; ATPIF1; ATPIP; ATPI; IP", "protein_names_uniprotkb": "ATPase inhibitor, mitochondrial; ATP synthase F1 subunit epsilon; IF(1); IF1; Inhibitor of F(1)F(o)-ATPase", "protein_names_refseq": "ATP synthase F1 subunit epsilon; ATP synthase inhibitor protein; ATPase inhibitor protein; ATPase inhibitor, mitochondrial isoform 1 precursor; ATPase inhibitor, mitochondrial; ATPase inhibitory factor 1; IF(1); IF1; inhibitor of F(1)F(o)-ATPase", "tax_id": 9606, "disease": "blindness (Disease Ontology:DOID:1432)", "pathway": " (hsa:93974)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "10664857;11237011;12110673;15528193;17697703;19559621;19608861;19892738;22645359;23135403;23186163;23481700;24715725;25418920;25576301;25810538;26024233;26154972;26375851;26387949;26876430;26992070;27846572;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29786170;29789417;30204502;30315122;30410026;30429286;30444036;30779550;31217245;31222486;31844290;31848261;31937595;32157095;32265295;32350084;32387766;32502341;32938616;33141586;33633747;33691108;33912179;33936100;33968037;33981976;34171305;34211107;35051231;35318648;35561310;35580925;35926043;36010968;36241641;37433784;37689158;37804244;37938771;38280428", "class_list": "", "function": "Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron into protoporphyrin IX to produce heme., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; IF1 ablation prevents ATP synthase oligomerization, enhances mitochondrial ATP turnover and promotes an adenosine-mediated pro-inflammatory phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing fech to efficiently catalyze the incorporation of iron into protoporphyrin IX to produce heme., [UniProtKB, UniProtKB]; Longitudinal Associations Between ATPase Inhibitory Factor 1, Growth Differentiation Factor-15, and Nutritional Status in Older Adults From the MAPT Study., [RefSeq, PubMed]; The inhibitor protein IF1 from mammalian mitochondria inhibits ATP hydrolysis but not ATP synthesis by the ATP synthase complex., [RefSeq, PubMed]; The pro-oncogenic protein IF1 does not contribute to the Warburg effect and is not regulated by PKA in cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JXL8;Q6IAQ7;Q9BSL9", "ec_number_list": [], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0005516 calmodulin binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0051117 ATPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0009986 cell surface;GO:0032991 protein-containing complex", "go_biological_process": "GO:0001525 angiogenesis;GO:0002931 response to ischemia;GO:0006091 generation of precursor metabolites and energy;GO:0030218 erythrocyte differentiation;GO:0001937 negative regulation of endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9UII2-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5YM69-1", "uniprot_id": [ { "id": "ARG35_HUMAN", "url": "https://www.uniprot.org/uniprot/A5YM69", "type": "external" } ], "mass": 53287.0, "length": 484, "protein_name": "Rho guanine nucleotide exchange factor 35", "gene_name": "ARHGEF35", "organism": "Human", "refseq_name": "rho guanine nucleotide exchange factor 35", "refseq_ac": [ { "id": "NP_001003702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003702", "type": "external" } ], "gene_names_uniprotkb": "ARHGEF35; ARHGEF5L", "gene_names_refseq": "ARHGEF35; ARHGEF5L", "protein_names_uniprotkb": "Rho guanine nucleotide exchange factor 35; Rho guanine nucleotide exchange factor 5-like protein", "protein_names_refseq": "Rho guanine nucleotide exchange factor (GEF) 35; rho guanine nucleotide exchange factor 35; rho guanine nucleotide exchange factor 5-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:445328); (R-HSA-193648); (R-HSA-416482)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "11283606;11294240;11313914;11742120;11756498;12097334;12101119;12123608;12433842;12515866;14673001;15470142;15699075;15749160;15951850;16212495;16923326;18374420;18577758;18669648;19212140;22661716;25414122;26154972;27072905;27600516;28832583;29242379;29557506;30007591;7937899;8617235;8816443;9308960;9520479;9796816", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZUI2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "A5YM69-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJG6-1", "uniprot_id": [ { "id": "ARGFX_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJG6", "type": "external" } ], "mass": 35617.0, "length": 315, "protein_name": "Arginine-fifty homeobox", "gene_name": "ARGFX", "organism": "Human", "refseq_name": "arginine-fifty homeobox", "refseq_ac": [ { "id": "NP_001012677", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012677", "type": "external" } ], "gene_names_uniprotkb": "ARGFX", "gene_names_refseq": "ARGFX", "protein_names_uniprotkb": "Arginine-fifty homeobox", "protein_names_refseq": "arginine-fifty homeobox", "tax_id": 9606, "disease": "", "pathway": " (hsa:503582)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "17005330;27412763;36010968", "class_list": "", "function": "Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This gene is a member of the ARGFX homeobox gene family. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that acts as activator., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NJG6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14415-1", "uniprot_id": [ { "id": "AT1B2_HUMAN", "url": "https://www.uniprot.org/uniprot/P14415", "type": "external" } ], "mass": 33367.0, "length": 290, "protein_name": "Sodium/potassium-transporting ATPase subunit beta-2", "gene_name": "ATP1B2", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit beta-2 isoform 2", "refseq_ac": [ { "id": "NP_001290192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290192", "type": "external" } ], "gene_names_uniprotkb": "ATP1B2", "gene_names_refseq": "AMOG; ATP1B2", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit beta-2; AMOG; Adhesion molecule in glia; Sodium/potassium-dependent ATPase subunit beta-2", "protein_names_refseq": "ATPase, Na+/K+ transporting, beta 2 polypeptide; Na, K-ATPase beta-2 polypeptide; adhesion molecule in glia; adhesion molecule on glia; sodium pump subunit beta-2; sodium-potassium ATPase subunit beta 2 (non-catalytic); sodium/potassium-dependent ATPase beta-2 subunit; sodium/potassium-dependent ATPase subunit beta-2; sodium/potassium-transporting ATPase beta-2 chain; sodium/potassium-transporting ATPase subunit beta-2 isoform 2; sodium/potassium-transporting ATPase subunit beta-2", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:482); (R-HSA-210991); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 5, "publication_count": 117, "publication_id_list": "10.1101/2023.09.13.557529;10087012;10220561;10401004;10484781;10615129;10767338;10880960;10913253;10921872;11062458;11237011;11719518;11904675;11943775;12119109;12558975;12832055;12953268;14707126;15174025;15260953;15598648;15754088;15831496;15901826;15919184;15925480;15946952;16115318;16182249;16260747;16522641;1656976;16700898;16754674;1693919;17224452;17357072;17486119;17662961;17996943;18723824;18995841;19159218;19278978;19345671;19694409;19751721;19878721;20223979;20388710;21108950;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22972900;23196729;23362265;23549614;23610579;23641311;24272870;2430951;24392018;24584101;2477373;2538450;2559024;25801024;25994790;26002965;27067231;2838329;28425720;28645727;28832583;29393594;2953725;29557506;29741879;29945920;30201761;30429286;30779550;31048504;31154438;31510944;31844290;34185709;35051231;35580925;35887102;37074911;6328127;6832622;7626145;7702581;7929371;8045293;8298639;8305453;8490646;8490659;8798450;8918259;9147644;9307043;9346285;9360995;9524271", "class_list": "", "function": "AMOG and L1 interdependently regulate their expression levels not only in U-87 MG cells but also in U251 and SHG44 human glioma cell lines. The capacity of AMOG to reduce L1 expression suggests that methods for increasing AMOG expression may provide a therapeutic choice for the management of glial tumors with high expression of L1. Publication Status: Online-Only, [RefSeq, PubMed]; Different members of the Na,K-ATPase beta subunit family may have specialized functions., [RefSeq, PubMed]; Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The beta2-Subunit (AMOG) of Human Na(+), K(+)-ATPase Is a Homophilic Adhesion Molecule. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]., [RefSeq]; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 8, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A0AV17;A8K278;D3DTQ2;O60444", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0051117 ATPase binding;GO:0001671 ATPase activator activity;GO:0141109 transporter activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0097449 astrocyte projection;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:1903976 negative regulation of glial cell migration;GO:0010976 positive regulation of neuron projection development;GO:0045494 photoreceptor cell maintenance;GO:0050821 protein stabilization;GO:0001895 retina homeostasis", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P14415-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "L0R819-1", "uniprot_id": [ { "id": "ASURF_HUMAN", "url": "https://www.uniprot.org/uniprot/L0R819", "type": "external" } ], "mass": 11250.0, "length": 96, "protein_name": "ASNSD1 upstream open reading frame protein", "gene_name": "ASDURF", "organism": "Human", "refseq_name": "ASDURF protein isoform 1", "refseq_ac": [ { "id": "NP_001340422", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001340422", "type": "external" } ], "gene_names_uniprotkb": "ASDURF", "gene_names_refseq": "ASDURF; ASNSD1-SEP", "protein_names_uniprotkb": "ASNSD1 upstream open reading frame protein; ASNSD1 small/short open reading frame-encoded polypeptide; ASNSD1-SEP", "protein_names_refseq": "ASDURF protein isoform 1; ASNSD1 upstream reading frame; Asparagine synthetase domain-containing protein 1; alternative protein ASNSD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:110599588)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;23160002;23950983;25857697;28832583;28834231;29508533;31738558;32157095;32488085;32502341;33936100;33968037;36241641;36284347", "class_list": "", "function": "ASDURF is a beta prefoldin and a subunit of the prefoldin-like module of the PAQosome/R2TP-PFDL complex., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "L0R819-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75185-1", "uniprot_id": [ { "id": "AT2C2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75185", "type": "external" } ], "mass": 103169.0, "length": 946, "protein_name": "Calcium-transporting ATPase type 2C member 2", "gene_name": "ATP2C2", "organism": "Human", "refseq_name": "calcium-transporting ATPase type 2C member 2 isoform 1", "refseq_ac": [ { "id": "NP_001273456", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273456", "type": "external" } ], "gene_names_uniprotkb": "ATP2C2; KIAA0703; SPCA2", "gene_names_refseq": "ATP2C2; SPCA2", "protein_names_uniprotkb": "Calcium-transporting ATPase type 2C member 2; 7.2.2.10; ATPase 2C2; Ca(2+)/Mn(2+)-ATPase 2C2; SPCA2; Secretory pathway Ca(2+)-transporting ATPase type 2", "protein_names_refseq": "ATPase 2C2; ATPase, Ca++ transporting, type 2C, member 2; Ca(2+)/Mn(2+)-ATPase 2C2; calcium-transporting ATPase type 2C member 2 isoform 1; calcium-transporting ATPase type 2C member 2; secretory pathway Ca(2+)-ATPase 2; secretory pathway Ca(2+)-transporting ATPase type 2; secretory pathway calcium ATPase 2", "tax_id": 9606, "disease": "Hailey-Hailey disease (Disease Ontology:DOID:0050429)", "pathway": " (hsa:9914); (R-HSA-936837)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;15677451;15831496;15919184;15925480;16182249;16332677;1656976;16700898;18669648;18723824;19345671;19878721;20887894;2160952;22186024;23196729;23840669;24392018;27067231;29557506;30923126;31076498;31676354;33392160;33864365;33936088;33981976;35051231;35063802;36010968;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures., [RefSeq, PubMed]; ATP-driven pump that supplies the Golgi apparatus with Ca(2+) and Mn(2+) ions, both essential cofactors for processing and trafficking of newly synthesized proteins in the secretory pathway (PubMed:15677451, PubMed:15831496, PubMed:16332677, PubMed:30923126). Within a catalytic cycle, acquires Ca(2+) or Mn(2+) ions on the cytoplasmic side of the membrane and delivers them to the lumenal side. The transfer of ions across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:15831496, PubMed:16332677). Induces Ca(2+) influx independently of its ATP-driven pump function. At the basolateral membrane of mammary epithelial cells, interacts with Ca(2+) channel ORAI1 and mediates Ca(2+) entry independently of the Ca(2+) content of endoplasmic reticulum or Golgi stores. May facilitate transepithelial transport of large quantities of Ca(2+) for milk secretion via activation of Ca(2+) influx channels at the plasma membrane and active Ca(2+) transport at the Golgi apparatus (PubMed:20887894, PubMed:23840669)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ATP2C2 Has Potential to Define Tumor Microenvironment in Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Analysis of SPCA1 and SPCA2 isoenzymes by steady-state and transient kinetic analyses, [RefSeq, PubMed]; HSPCA2 has the ability to transport Ca(2+) and Mn(2+); both its transport and Ca(2+)- and Mn(2+)-dependent phosphoprotein intermediate formation functions are insensitive to thapsigargin inhibition, [RefSeq, PubMed]; Low SPCA2 expression is associated with Epithelial-Mesenchymal Transition in Breast Cancer., [RefSeq, PubMed]; SPCA2 may have a more specialized role in mammalian cells, possibly in cellular detoxification of Mn2+ ions., [RefSeq, PubMed]; SPCA2C influences Ca(2+) homeostasis through multiple mechanisms, some of which are independent of Orai1, suggesting novel and possibly cell-specific Ca(2+) regulation., [RefSeq, PubMed]; Secretory pathway Ca(2+)-ATPase SPCA2 regulates mitochondrial respiration and DNA damage response through store-independent calcium entry., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DU76;E7ES94;Q5HYC3;Q5S053;Q68CQ2", "ec_number_list": [ { "id": "7.2.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0005388 P-type calcium transporter activity;GO:0140613 P-type manganese transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0070588 calcium ion transmembrane transport;GO:0006828 manganese ion transport", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O75185-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75882-1", "uniprot_id": [ { "id": "ATRN_HUMAN", "url": "https://www.uniprot.org/uniprot/O75882", "type": "external" } ], "mass": 158537.0, "length": 1429, "protein_name": "Attractin", "gene_name": "ATRN", "organism": "Human", "refseq_name": "attractin isoform 4", "refseq_ac": [ { "id": "NP_001193976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193976", "type": "external" } ], "gene_names_uniprotkb": "ATRN; KIAA0548; MGCA", "gene_names_refseq": "ATRN; DPPT-L; MGCA", "protein_names_uniprotkb": "Attractin; DPPT-L; Mahogany homolog", "protein_names_refseq": "attractin isoform 4; attractin-2; mahogany homolog; mahogany protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:8455)", "pathway_count": 1, "publication_count": 106, "publication_id_list": "37268159;10.1007/s00018-021-03863-1;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10811918;14760718;16335952;17261078;18452278;18984734;19139490;19159218;19384953;19535787;20198559;23090970;23345538;23481700;24190977;24715725;25318887;25576301;25645385;25813380;25880248;25892735;26154972;26375851;26992070;27397612;27600516;27846572;27862975;28218747;28228285;28411811;28467828;28493104;28657654;28832583;28834231;29242379;29314611;29331515;29391424;29393594;29437277;29508533;29557506;29632046;29632711;29671580;29741879;29769354;29786170;29789417;30315122;30429286;30484775;30524438;30573663;30779550;30833945;31154438;31222486;31844290;31848261;31998317;32125861;32157095;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34089345;34171305;34357683;34405274;34725484;34725712;34932366;35051231;35251023;35289036;35580925;36010968;36241641;36284347;37074911;37938771;38665916;7539799;9736737", "class_list": "glycogene", "function": "ATRN encodes Attractin, which was previously shown to play a critical role in central myelination, [RefSeq, PubMed]; Associated with spermatozoa, [RefSeq, PubMed]; Data indicate that Attractin was involved in male reproduction in both human and BALB/c mice, but it exerted a different expression profile in different species., [RefSeq, PubMed]; Involved in the initial immune cell clustering during inflammatory response and may regulate chemotactic activity of chemokines. May play a role in melanocortin signaling pathways that regulate energy homeostasis and hair color. Low-affinity receptor for agouti (By similarity). Has a critical role in normal myelination in the central nervous system (By similarity)., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Provides the genomic basis for production of a soluble and membrane form of attractin by alternative splicing. In the process, by sequencing from positionally-determined BAC clones, confirms the localization of attractin to chromosome 20p13., [RefSeq, PubMed]; The levels of both dipeptidyl-peptidase 4 and attractin in circulating monocytes were significantly higher in obese subjects as compared with levels in lean controls or in subjects with type 2 diabetes., [RefSeq, PubMed]; This gene encodes both membrane-bound and secreted protein isoforms. A membrane-bound isoform exhibits sequence similarity with the mouse mahogany protein, a receptor involved in controlling obesity. A secreted isoform is involved in the initial immune cell clustering during inflammatory responses that may regulate the chemotactic activity of chemokines. [provided by RefSeq, Apr 2016]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 19, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 18, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 19, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 19, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1451, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 122, "disease_count": 0, "glyco_site_count": 31, "binding_glycan_count": 0, "secondary_ac_list": "A8KAE5;O60295;O95414;Q3MIT3;Q5TDA2;Q5TDA4;Q5VYW3;Q9NTQ3;Q9NTQ4;Q9NU01;Q9NZ57;Q9NZ58;Q9UC75;Q9UDF5", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 25.3, "record_id": "O75882-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95260-1", "uniprot_id": [ { "id": "ATE1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95260", "type": "external" } ], "mass": 59090.0, "length": 518, "protein_name": "Arginyl-tRNA--protein transferase 1", "gene_name": "ATE1", "organism": "Human", "refseq_name": "arginyl-tRNA--protein transferase 1 isoform 1", "refseq_ac": [ { "id": "NP_001001976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001976", "type": "external" } ], "gene_names_uniprotkb": "ATE1", "gene_names_refseq": "ATE1", "protein_names_uniprotkb": "Arginyl-tRNA--protein transferase 1; 2.3.2.8; Arginine-tRNA--protein transferase 1; Arginyltransferase 1; R-transferase 1", "protein_names_refseq": "R-transferase 1; arginine-tRNA--protein transferase 1; arginyl-tRNA--protein transferase 1 isoform 1; arginyl-tRNA-protein transferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:11101)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;16385451;17525332;18077418;19608861;20068231;23186163;24366607;24714562;25645385;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29508533;29557506;31020640;31844290;32157095;32357974;32502341;32938616;33592498;33717175;33912179;33968037;33981976;34158395;34171305;34561969;34565409;34893540;34896361;35051231;35580925;36241641;36284347;37938771;39207120;9858543", "class_list": "", "function": "ATE1 Inhibits Liver Cancer Progression through RGS5-Mediated Suppression of Wnt/beta-Catenin Signaling., [RefSeq, PubMed]; Arginyl-tRNA-protein transferase 1 contributes to governing optimal stability of the human immunodeficiency virus type 1 core. Publication Status: Online-Only, [RefSeq, PubMed]; Arginyltransferase 1 (ATE1)-mediated proteasomal degradation of viral haemagglutinin protein: a unique host defence mechanism., [RefSeq, PubMed]; Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Final Maturation State of beta-actin Involves N-terminal Acetylation by NAA80, not N-terminal Arginylation by ATE1., [RefSeq, PubMed]; This gene encodes an arginyltransferase, an enzyme that is involved in posttranslational conjugation of arginine to N-terminal aspartate or glutamate residues. Conjugation of arginine to the N-terminal aspartate or glutamate targets proteins for ubiquitin-dependent degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O95261;Q5SQQ3;Q8WW04", "ec_number_list": [ { "id": "2.3.2.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.8", "type": "external" } ], "go_molecular_function": "GO:0004057 arginyl-tRNA--protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0010498 proteasomal protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0016598 protein arginylation;GO:0071596 ubiquitin-dependent protein catabolic process via the N-end rule pathway", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O95260-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03928-1", "uniprot_id": [ { "id": "ATP8_HUMAN", "url": "https://www.uniprot.org/uniprot/P03928", "type": "external" } ], "mass": 7992.0, "length": 68, "protein_name": "ATP synthase F(0) complex subunit 8", "gene_name": "MT-ATP8", "organism": "Human", "refseq_name": "ATP synthase F0 subunit 8", "refseq_ac": [ { "id": "YP_003024030", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024030", "type": "external" } ], "gene_names_uniprotkb": "MT-ATP8; ATP8; ATPASE8; MTATP8", "gene_names_refseq": "ATP8; ATPase8; MTATP8", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit 8; A6L; F-ATPase subunit 8", "protein_names_refseq": "ATP synthase F0 subunit 8", "tax_id": 9606, "disease": "infantile hypertrophic cardiomyopathy (Disease Ontology:DOID:0111753); urinary bladder cancer (Disease Ontology:DOID:11054); multiple sclerosis (Disease Ontology:DOID:2377)", "pathway": " (hsa:4509); (R-HSA-163210); (R-HSA-5419276); (R-HSA-8949613)", "pathway_count": 4, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11130070;12840039;12949126;14760490;17121862;17510655;1757091;17624330;17803939;18323778;18429816;18782833;19188198;19716793;20186120;20833715;21836051;22114354;22172991;22252321;22864911;24098383;24687277;25233460;25285856;25502872;25576301;25764979;25781180;25997101;26154972;26416881;26477565;26530328;26968360;26992070;27479602;27485409;27623147;27726376;28904123;29493099;29557506;31611695;32516135;32938616;33392160;34357683;35318648;36010968;36241641;36302763;36596788;37141370;37244256;37938771;4517936;7219534;7530363;9461455", "class_list": "", "function": "Subunit 8, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (PubMed:37244256)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q34771", "ec_number_list": [], "go_molecular_function": "GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P03928-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05026-1", "uniprot_id": [ { "id": "AT1B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05026", "type": "external" } ], "mass": 35061.0, "length": 303, "protein_name": "Sodium/potassium-transporting ATPase subunit beta-1", "gene_name": "ATP1B1", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit beta-1", "refseq_ac": [ { "id": "NP_001668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001668", "type": "external" } ], "gene_names_uniprotkb": "ATP1B1; ATP1B", "gene_names_refseq": "ATP1B1; ATP1B", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit beta-1; Sodium/potassium-dependent ATPase subunit beta-1", "protein_names_refseq": "ATPase, Na+/K+ transporting, beta 1 polypeptide; Beta 1-subunit of Na(+),K(+)-ATPase; Na, K-ATPase beta-1 polypeptide; adenosinetriphosphatase; sodium pump subunit beta-1; sodium-potassium ATPase subunit beta 1 (non-catalytic); sodium/potassium-dependent ATPase beta-1 subunit; sodium/potassium-transporting ATPase beta-1 chain; sodium/potassium-transporting ATPase subunit beta-1", "tax_id": 9606, "disease": "sensorineural hearing loss (Disease Ontology:DOID:10003); essential hypertension (Disease Ontology:DOID:10825); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:481); (R-HSA-210991); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 5, "publication_count": 156, "publication_id_list": "10.1101/2023.09.13.557529;10087012;10220561;10401004;10484781;10615129;10767338;10880960;10913253;10921872;11062458;11237011;11719518;11904675;11943775;12119109;12558975;12754519;12832055;12953268;14707126;15104674;15174025;15260953;15598648;15754088;15831496;15901826;15919184;15925480;15946952;16115318;16182249;16260747;16522641;1656976;16700898;16754674;1693919;17074750;17224452;17357072;17486119;17662961;17996943;18723824;18995841;19159218;19278978;19345671;19349973;19694409;19751721;19878721;20112406;20223979;20388710;21108950;2160952;22186024;22210847;2226863;22328087;22401777;22427649;22552008;22707725;22814904;22972900;23090970;23196729;23362265;23549614;23610579;23641311;24190977;24272870;2430951;24392018;24584101;24714562;2477373;25502872;2555225;2559024;25801024;25892735;25902260;25994790;26002965;27067231;2838329;28425720;28645727;28904123;29242379;29393594;2953725;29557506;29741879;29769354;29789417;29945920;3008098;30201761;30429286;31048504;31732153;31844290;32157095;32265295;32350084;32357974;32983136;33214551;33592498;33691108;33717175;33912179;33968037;34011520;34019948;34171305;34185709;34192507;34357683;34561969;34725712;35051231;35289036;35318648;35580925;36010968;36215666;36284347;36736852;37074911;37938771;40596516;6328127;6832622;7536695;7626145;7702581;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285;9360995;9382929", "class_list": "", "function": "Hypercapnia Induces Inositol-Requiring Enzyme 1alpha-Driven Endoplasmic Reticulum-associated Degradation of the Na,K-ATPase beta-Subunit., [RefSeq, PubMed]; Inducible ATP1B1 Upregulates Antiviral Innate Immune Responses by the Ubiquitination of TRAF3 and TRAF6., [RefSeq, PubMed]; Intergenic variants, rs1200114 and rs1200108 are genetically associated along with a decreased ATP1B1 expression in Fuchs Endothelial Corneal Dystrophy., [RefSeq, PubMed]; Involved in cell adhesion and establishing epithelial cell polarity., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 1 subunit. Alternatively spliced transcript variants encoding different isoforms have been described, but their biological validity is not known. [provided by RefSeq, Mar 2010]., [RefSeq]; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane (PubMed:19694409). Plays a role in innate immunity by enhancing virus-triggered induction of interferons (IFNs) and interferon stimulated genes (ISGs). Mechanistically, enhances the ubiquitination of TRAF3 and TRAF6 as well as the phosphorylation of TAK1 and TBK1 (PubMed:34011520)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 123, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5TGZ3", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030674 protein-macromolecule adaptor activity;GO:0046982 protein heterodimerization activity;GO:0051117 ATPase binding;GO:0023026 MHC class II protein complex binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0014704 intercalated disc", "go_biological_process": "GO:0007155 cell adhesion;GO:0045087 innate immune response;GO:0072659 protein localization to plasma membrane;GO:0001666 response to hypoxia;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 28.5, "record_id": "P05026-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMR3-1", "uniprot_id": [ { "id": "AT8OS_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMR3", "type": "external" } ], "mass": 22759.0, "length": 200, "protein_name": "Putative protein ATXN8OS", "gene_name": "ATXN8OS", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ATXN8OS; KLHL1AS; SCA8", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein ATXN8OS; ATXN8 opposite strand; Spinocerebellar ataxia 8; kelch-like 1 antisense", "protein_names_refseq": "", "tax_id": 9606, "disease": "spinocerebellar ataxia 8 (Disease Ontology:DOID:0050959); late onset Parkinson's disease (Disease Ontology:DOID:0060892)", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "10192387;24040107;28411811;30379171;35494241", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0DMR3-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15289-1", "uniprot_id": [ { "id": "ARSA_HUMAN", "url": "https://www.uniprot.org/uniprot/P15289", "type": "external" } ], "mass": 53588.0, "length": 507, "protein_name": "Arylsulfatase A", "gene_name": "ARSA", "organism": "Human", "refseq_name": "arylsulfatase A isoform a precursor", "refseq_ac": [ { "id": "NP_000478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000478", "type": "external" } ], "gene_names_uniprotkb": "ARSA", "gene_names_refseq": "ARSA; ASA; MLD", "protein_names_uniprotkb": "Arylsulfatase A; 3.1.6.8; ASA; Cerebroside-sulfatase", "protein_names_refseq": "arylsulfatase A isoform a precursor; cerebroside-sulfatase; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "mucosulfatidosis (Disease Ontology:DOID:0050441); metachromatic leukodystrophy (Disease Ontology:DOID:10581); hypothyroidism (Disease Ontology:DOID:1459); metachromatic leukodystrophy (MONDO:MONDO:0018868)", "pathway": " (hsa:410); (R-HSA-1663150); (R-HSA-6798695); (R-HSA-9840310)", "pathway_count": 4, "publication_count": 220, "publication_id_list": "10.1038/emboj.2013.79;10191093;10196694;10220151;10381328;10406958;10477432;10533072;10751093;10781797;10814696;10823942;10861246;10942779;10993717;11020646;11061266;11124905;11237011;11350180;11456299;11489889;11707436;11784319;11941485;12374214;12503099;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12788103;12885774;12888274;12909021;1352293;1352993;1353340;14517960;14563551;14680985;15003450;15026521;15146462;15213228;15326627;15458386;15657036;15708861;15710861;15714521;15773042;15845354;15962010;16229686;16230343;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1673291;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18477386;18524657;18693274;1889421;1907800;1915858;19159218;19224915;19262745;19405096;19606494;1975241;19836391;19864504;2001789;20339381;20728381;21265945;23481700;235289;23581857;23584533;23650620;239890;24294900;24366607;25418920;25502872;25576301;2562955;2574462;25802875;25892735;26154972;26811146;26992070;2717620;27846572;28126847;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29393594;29443946;29557506;2960521;29632711;2965147;29692406;2970528;2971395;29747811;2976757;29769354;29789417;29802621;30115740;3014515;3048308;31217245;3136930;31495489;3158659;31844290;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33141586;33298915;33592498;33912179;33936100;34357683;34433824;34554397;3456607;34932366;35051231;35154160;35251023;35580925;36010968;37381728;38153581;38775997;39940;5135907;5164093;527942;5822067;7504405;7506530;7581401;7628016;7730378;7744740;7825603;7852280;7860068;7866401;7902317;7906588;7909527;7914890;8095918;8101038;8101083;8104633;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8692836;8723680;8804427;8889578;8891236;8955159;8985184;9090526;9217013;9272717;9338580;9342345;9452102;9490297;9520418;9521684;9600244;9699462;9744473;9819708;9888390", "class_list": "glycogene", "function": "Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients., [RefSeq, PubMed]; Association of Rare Variants in ARSA with Parkinson's Disease., [RefSeq, PubMed]; Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants., [RefSeq, PubMed]; Hydrolyzes cerebroside sulfate., [UniProtKB, UniProtKB]; Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Lysosomal enzyme that catalyzes the hydrolysis of cerebroside-3-sulfate (sulfatide) into cerebroside and sulfate, a reaction that requires the activator protein saposin B., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 29, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RCA6;B7XD04;F8WCC8;Q6ICI5;Q96CJ0", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": 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"3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004065 arylsulfatase activity;GO:0004098 cerebroside-sulfatase activity;GO:0008484 sulfuric ester hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0007584 response to nutrient;GO:0045471 response to ethanol;GO:0006914 autophagy;GO:0009268 response to pH", "synthesized_glycan_count": 0, "hit_score": 25.5, "record_id": "P15289-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15848-1", "uniprot_id": [ { "id": "ARSB_HUMAN", "url": "https://www.uniprot.org/uniprot/P15848", "type": "external" } ], "mass": 59687.0, "length": 533, "protein_name": "Arylsulfatase B", "gene_name": "ARSB", "organism": "Human", "refseq_name": "arylsulfatase B isoform 1 precursor", "refseq_ac": [ { "id": "NP_000037", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000037", "type": "external" } ], "gene_names_uniprotkb": "ARSB", "gene_names_refseq": "ARSB; ASB; G4S; MPS6", "protein_names_uniprotkb": "Arylsulfatase B; 3.1.6.12; ASB; G4S; N-acetylgalactosamine-4-sulfatase", "protein_names_refseq": "N-acetylgalactosamine-4-sulfatase; arylsulfatase B isoform 1 precursor", "tax_id": 9606, "disease": "mucosulfatidosis (Disease Ontology:DOID:0050441); mucopolysaccharidosis VI (Disease Ontology:DOID:12800)", "pathway": " (hsa:411); (R-HSA-1663150); (R-HSA-2024101); (R-HSA-2206285); (R-HSA-6798695); (R-HSA-9840310)", "pathway_count": 6, "publication_count": 185, "publication_id_list": "10.1101/2023.09.13.557529;10036316;10191093;10196694;10206678;10339581;10406958;10738004;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11568288;11707436;11784319;11802522;12374214;12510003;12518053;12566438;12594539;12662933;12757705;12757706;12885774;12888274;12909021;1301949;1352293;1352993;1390929;14563551;14974081;15003450;15146462;15213228;15458386;1550123;15647514;15657036;15708861;15714521;15773042;15845354;15962010;16229686;16230343;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1718978;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19159218;19224584;19259130;1928092;1930244;19306108;19405096;1946389;1968043;19836391;19889881;2001789;20728381;2122463;2303452;235289;23650620;239890;24190977;2562955;25645385;2717620;27600516;27726376;28126847;28657654;28832583;28904123;29242379;29443946;29557506;2960521;29632046;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29786170;29802621;3014515;30429286;3048308;31092671;31154438;3134052;3136930;31495489;3158659;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33392160;33912179;33968037;34435740;34509645;34561969;3456607;3468507;34948256;35051231;35580925;36361933;37074911;38665916;38892038;39940;5135907;5164093;527942;5822067;738706;7504405;7628016;7687847;7730378;7744740;7852280;8116615;8125475;8213840;8281145;8370580;8399327;8541342;8573994;8591035;8651289;8663398;8681943;8692836;8723688;8804427;8889578;8955159;8985184;9032078;9217013;9223416;9338580;9520418;9521684;9582121;9699462", "class_list": "glycogene", "function": "Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]., [RefSeq]; Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI)., [RefSeq, PubMed]; Mucopolysaccharidosis Type VI, an Updated Overview of the Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; N-Acetylgalactosamine-4-sulfatase (Arylsulfatase B) Regulates PD-L1 Expression in Melanoma by an HDAC3-Mediated Epigenetic Mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Profound Impact of Decline in N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B) on Molecular Pathophysiology and Human Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 836, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 18, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RC20;Q8N322;Q9UDI9", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "2.4.2.1", "url": 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"url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity;GO:0003943 N-acetylgalactosamine-4-sulfatase activity;GO:0008484 sulfuric ester hydrolase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0007584 response to nutrient;GO:0010976 positive regulation of neuron projection development;GO:0006914 autophagy;GO:0007040 lysosome organization;GO:0009268 response to pH", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "P15848-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18859-1", "uniprot_id": [ { "id": "ATP5J_HUMAN", "url": "https://www.uniprot.org/uniprot/P18859", "type": "external" } ], "mass": 12588.0, "length": 108, "protein_name": "ATP synthase peripheral stalk subunit F6, mitochondrial", "gene_name": "ATP5PF", "organism": "Human", "refseq_name": "ATP synthase peripheral stalk subunit F6, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_001003696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003696", "type": "external" } ], "gene_names_uniprotkb": "ATP5PF; ATP5A; ATP5J; ATPM", "gene_names_refseq": "ATP5A; ATP5J; ATP5PF; ATP5; ATPM; CF6; F6", "protein_names_uniprotkb": "ATP synthase peripheral stalk subunit F6, mitochondrial; ATP synthase peripheral stalk subunit F6; ATPase subunit F6", "protein_names_refseq": "ATP synthase peripheral stalk subunit F6, mitochondrial isoform a precursor; ATP synthase peripheral stalk subunit F6, mitochondrial; ATP synthase subunit h; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6; ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6; ATP synthase-coupling factor 6, mitochondrial; ATPase subunit F6; coupling factor 6; mitochondrial ATP synthase, coupling factor 6; mitochondrial ATP synthase, subunit F6; mitochondrial ATPase coupling factor 6; proliferation-inducing protein 36", "tax_id": 9606, "disease": "essential hypertension (Disease Ontology:DOID:10825); pulmonary hypertension (Disease Ontology:DOID:6432)", "pathway": " (hsa:522); (R-HSA-163210); (R-HSA-8949613); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 130, "publication_id_list": "11230166;11237011;11923310;12198491;1286669;14623864;15522782;15870080;16115876;17101804;17121862;17213182;17297443;17510655;17579211;17624330;1825642;1830479;18323778;19608861;19841671;20833715;21836051;22114354;22252321;22262461;22710082;22864911;23186163;23201127;23739916;23931759;24098383;24315374;24520911;24687277;24715725;25285856;25418920;25645385;25764979;25781180;25810538;25997101;26375851;26416881;26477565;26504172;26530328;26923599;26968360;26992070;27479602;27485409;27496948;27543614;27600516;27623147;27642048;27846572;27920218;28063628;28377575;28396416;28467828;28489076;28832583;28855257;28871256;28904123;29242379;29301859;29317506;29393594;29508533;29557506;29632046;29632711;29786170;29789417;29932645;29961568;30120231;30192525;30315122;30429286;31154438;31217245;31222486;31327635;31530632;31611695;31695197;31844290;32157095;32161166;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33257573;33298915;33392160;33592498;33912179;33968037;33981976;34078123;34357683;34433824;34561969;34704252;34943861;35154160;35580925;35870450;36010968;36215666;36241641;36284347;36629048;37244256;37938771;4517936;7623837", "class_list": "", "function": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]., [RefSeq]; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain., [UniProtKB, UniProtKB]; Subunit F6, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel. These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro. Part of the complex F(0) domain. Part of the complex F(0) domain and the peripheric stalk, which acts as a stator to hold the catalytic alpha(3)beta(3) subcomplex and subunit a/ATP6 static relative to the rotary elements., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3KQ83", "ec_number_list": [], "go_molecular_function": "GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0021762 substantia nigra development;GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "P18859-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NT62-1", "uniprot_id": [ { "id": "ATG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NT62", "type": "external" } ], "mass": 35864.0, "length": 314, "protein_name": "Ubiquitin-like-conjugating enzyme ATG3", "gene_name": "ATG3", "organism": "Human", "refseq_name": "ubiquitin-like-conjugating enzyme ATG3 isoform 2", "refseq_ac": [ { "id": "NP_001265641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265641", "type": "external" } ], "gene_names_uniprotkb": "ATG3; APG3L; APG3", "gene_names_refseq": "APG3-LIKE; APG3L; APG3; ATG3; PC3-96; hApg3", "protein_names_uniprotkb": "Ubiquitin-like-conjugating enzyme ATG3; 2.3.2.-; APG3-like; Autophagy-related protein 3; Protein PC3-96; hApg3", "protein_names_refseq": "APG3 autophagy 3-like; ATG3 autophagy related 3 homolog; autophagy-related protein 3; ubiquitin-like-conjugating enzyme ATG3 isoform 2; ubiquitin-like-conjugating enzyme ATG3", "tax_id": 9606, "disease": "", "pathway": " (hsa:64422); (R-HSA-1632852)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "11096062;11237011;11825910;12207896;12890687;15144186;15187094;15592455;16704426;16963840;17618624;18321988;18439900;18707149;19211835;19322194;19342671;19590496;19855179;19898463;20059746;20713597;20921139;21177865;21205641;21258367;21383122;21460621;21819378;22170151;22223895;22644571;22682742;23202584;23301498;23685627;23727157;23884233;24186333;24191030;24715725;24747438;24954904;25484072;25568151;25576301;25645385;26043688;26992070;27600516;28103122;28228285;28510447;28832583;28855257;28904123;29142222;29242379;29393594;29557506;30315122;30429286;30779550;31154438;31530632;31844290;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33298915;33446636;33592498;33691108;33936100;33968037;33981976;34019948;34509645;34555423;35051231;35251023;35561310;35580925;36010968;36284347;37252361;37938771;38665916;40914422;7628435", "class_list": "", "function": "An N-terminal conserved region in human Atg3 couples membrane curvature sensitivity to conjugase activity during autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; E2 conjugating enzyme that catalyzes the covalent conjugation of the C-terminal Gly of ATG8-like proteins (GABARAP, GABARAPL1, GABARAPL2 or MAP1LC3A) to the amino group of phosphatidylethanolamine (PE)-containing lipids in the membrane resulting in membrane-bound ATG8-like proteins which is one of the key steps in the development of autophagic isolation membranes during autophagosome formation (PubMed:24191030, PubMed:33446636, PubMed:37252361). Cycles back and forth between binding to ATG7 for loading with the ATG8-like proteins and binding to E3 enzyme, composed of ATG12, ATG5 and ATG16L1 to promote ATG8-like proteins lipidation (PubMed:11825910, PubMed:12207896, PubMed:12890687, PubMed:16704426, PubMed:24186333). Also plays a role as a membrane curvature sensor that facilitates LC3/GABARAP lipidation by sensing local membrane stress associated with lipid-packing defects as occurs with high molar proportions of conical lipids or strident membrane curvature (By similarity). Interacts with negatively-charged membranes promoting membrane tethering and enhancing LC3/GABARAP lipidation (PubMed:29142222). Also acts as an autocatalytic E2-like enzyme by catalyzing the conjugation of ATG12 to itself in an ATG7-dependent manner, this complex thus formed, plays a role in mitochondrial homeostasis but not in autophagy (By similarity). ATG12-ATG3 conjugation promotes late endosome to lysosome trafficking and basal autophagosome maturation via its interaction with PDCD6IP (By similarity). ATG12-ATG3 conjugate is also formed upon viccina virus infection, leading to the disruption the cellular autophagy which is not necessary for vaccinia survival and proliferation (By similarity). Promotes primary ciliogenesis by removing OFD1 from centriolar satellites via the autophagic pathway (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p, [RefSeq, PubMed]; Inhibition of ATG3 ameliorates liver steatosis by increasing mitochondrial function., [RefSeq, PubMed]; This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JNW8;Q6PKC5;Q9H6L9", "ec_number_list": [ { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" } ], "go_molecular_function": "GO:0019899 enzyme binding;GO:0019787 ubiquitin-like protein transferase activity;GO:0019776 Atg8-family ligase activity;GO:0019777 Atg12 transferase activity;GO:0141046 Atg8-family conjugating enzyme activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0000407 phagophore assembly site;GO:0034274 Atg12-Atg5-Atg16 complex", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0015031 protein transport;GO:0006612 protein targeting to membrane;GO:0016567 protein ubiquitination;GO:0000422 autophagy of mitochondrion", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9NT62-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TBE0-1", "uniprot_id": [ { "id": "C19L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TBE0", "type": "external" } ], "mass": 103787.0, "length": 894, "protein_name": "CWF19-like protein 2", "gene_name": "CWF19L2", "organism": "Human", "refseq_name": "CWF19-like protein 2", "refseq_ac": [ { "id": "NP_689647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689647", "type": "external" } ], "gene_names_uniprotkb": "CWF19L2", "gene_names_refseq": "CWF19L2", "protein_names_uniprotkb": "CWF19-like protein 2", "protein_names_refseq": "CWF19 like 2, cell cycle control; CWF19-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:143884); (R-HSA-72163)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17081983;17095540;17332742;17606899;18322460;18398821;18491316;18593880;18669648;19103666;19165350;19536130;19651622;19690332;20068231;20423332;20677014;20980672;21406692;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24196718;24304693;24448447;24715725;24737827;24914973;25555158;2558966;25772364;26154972;26385511;26420826;26969736;26992070;27377154;27459055;27683217;28062851;28076346;28218747;28502770;28781166;28832583;28834231;28904123;29242379;29301961;29360106;29361316;29557506;2963332;30315277;30429286;30705154;30728453;30765414;30779550;30975767;31154438;31409651;31844290;32157095;32179686;32329775;32387766;32494006;32938616;32983136;33243851;33446560;33912179;33936100;34171305;34301950;34509645;34822310;35051231;35385551;36241641;36284347;37217939;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FU66;A4FU67;A4FU68;A8KAD6;Q6PHW1;Q96MI1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0071014 post-mRNA release spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "Q2TBE0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DR5-1", "uniprot_id": [ { "id": "BPIA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DR5", "type": "external" } ], "mass": 27011.0, "length": 249, "protein_name": "BPI fold-containing family A member 2", "gene_name": "BPIFA2", "organism": "Human", "refseq_name": "BPI fold-containing family A member 2 precursor", "refseq_ac": [ { "id": "NP_001306093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306093", "type": "external" } ], "gene_names_uniprotkb": "BPIFA2; C20orf70; PRO1025; SPLUNC2", "gene_names_refseq": "BPIFA2; C20orf70; PSP; SPLUNC2; bA49G10.1", "protein_names_uniprotkb": "BPI fold-containing family A member 2; PSP; Parotid secretory protein; Short palate, lung and nasal epithelium carcinoma-associated protein 2", "protein_names_refseq": "BPI fold-containing family A member 2 precursor; parotid secretory protein; short palate, lung and nasal epithelium carcinoma-associated protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:140683); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "11120840;11313366;11389039;11971875;12493837;12975309;13816;14506276;14739326;1522221;15229136;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16740002;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19499239;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;23302724;23426625;24219363;24256734;24581853;24715725;25075772;25461571;25596890;26148048;26758079;27089320;3286634;32983136;35051231;9523110;9665269;9756476", "class_list": "", "function": "Has strong antibacterial activity against P.aeruginosa., [UniProtKB, PubMed]; Multiple SPLUNC2 isoforms are found in the oral cavity and suggest that these proteins may be differentially regulated in distinct tissues where they may function in the innate immune response., [RefSeq, PubMed]; This gene encodes a member of the palate, lung and nasal epithelium clone (Plunc) family of proteins. Members of this family have been proposed to play a role in the local antibacterial response in nose, mouth and upper respiratory pathways. The encoded soluble salivary protein binds bacterial lipopolysaccharide (LPS) and inhibits bacterial growth. This gene is present in a gene cluster on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9BQQ0", "ec_number_list": [], "go_molecular_function": "GO:0001530 lipopolysaccharide binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96DR5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3Y3-1", "uniprot_id": [ { "id": "LARG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3Y3", "type": "external" } ], "mass": 81787.0, "length": 721, "protein_name": "Xylosyl- and glucuronyltransferase LARGE2", "gene_name": "LARGE2", "organism": "Human", "refseq_name": "xylosyl- and glucuronyltransferase LARGE2 isoform a", "refseq_ac": [ { "id": "NP_001287650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287650", "type": "external" } ], "gene_names_uniprotkb": "LARGE2; GYLTL1B; PP5656", "gene_names_refseq": "GYLTL1B; LARGE2; PP5656", "protein_names_uniprotkb": "Xylosyl- and glucuronyltransferase LARGE2; 2.4.-.-; Glycosyltransferase-like 1B; LARGE xylosyl- and glucuronyltransferase 2", "protein_names_refseq": "glycosyltransferase-like protein LARGE2; like-glycosyltransferase 2; ortholog of mouse glycosyltransferase-like 1B; xylosyl- and glucuronyltransferase LARGE2 isoform a; xylosyl- and glucuronyltransferase LARGE2", "tax_id": 9606, "disease": "", "pathway": " (hsa:120071); (R-HSA-9939291)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;10545611;11237011;11592034;11709191;11741828;12966029;14627679;15121789;15498874;15661757;15752776;15958417;17030669;17034757;17044012;18195152;19587235;20166139;22223806;22522420;23125099;23217329;23359570;23390185;24715725;25138275;25279697;25279699;25455932;26220087;26687144;26923585;27130732;27493216;27733679;27909055;29393594;29477842;29741879;31949166;32149355;32350084;32387766;32586342;34015330;35051231;35251023;37074911", "class_list": "glycogene;glycosyltransferase", "function": "Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-containing extracellular proteins with high affinity and in a phosphorylated-O-mannosyl trisaccharide dependent manner (PubMed:15661757, PubMed:15752776, PubMed:25138275). Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (By similarity). Supports the maturation of DAG1 more effectively than LARGE1 (PubMed:15752776). In addition, can modify both heparan sulfate (HS)- and chondroitin/dermatan sulfate (CS/DS)-proteoglycans (PGs), namely GPC4, with a glycosaminoglycan (GAG)-like polysaccharide composed of xylose and glucuronic acid to confer laminin binding (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; LARGE2 is negatively regulated by Snail and/or ZEB1, revealing a mechanistic basis for alphaDG hypoglycosylation during prostate cancer progression and metastasis., [RefSeq, PubMed]; LARGE2 was found to support the maturation of alpha-dystroglycan more effectively than LARGE., [RefSeq, PubMed]; Reduced levels of GYLTL1B and ISPD mRNA associated with increased patient mortality and are the likely cause of alphaDG hypoglycosylation in ccRCC. Publication Status: Online-Only, [RefSeq, PubMed]; Wnt-driven LARGE2 mediates laminin-adhesive O-glycosylation in human colonic epithelial cells and colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 960, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NN75;Q8N8Y6;Q8NAK3;Q8WY62", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.-.-", "type": "external" } ], "go_molecular_function": "GO:0042285 xylosyltransferase activity;GO:0030145 manganese ion binding;GO:0015020 glucuronosyltransferase activity;GO:0035252 UDP-xylosyltransferase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0046716 muscle cell cellular homeostasis;GO:0006493 protein O-linked glycosylation;GO:0035269 protein O-linked glycosylation via mannose", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q8N3Y3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12277-1", "uniprot_id": [ { "id": "KCRB_HUMAN", "url": "https://www.uniprot.org/uniprot/P12277", "type": "external" } ], "mass": 42644.0, "length": 381, "protein_name": "Creatine kinase B-type", "gene_name": "CKB", "organism": "Human", "refseq_name": "creatine kinase B-type isoform 1", "refseq_ac": [ { "id": "NP_001814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001814", "type": "external" } ], "gene_names_uniprotkb": "CKB; CKBB", "gene_names_refseq": "B-CK; BCK; CKBB; CKB; CPK-B; HEL-211; HEL-S-29", "protein_names_uniprotkb": "Creatine kinase B-type; 2.7.3.2; B-CK; Brain creatine kinase; CPK-B; Creatine kinase B chain; Creatine phosphokinase B-type", "protein_names_refseq": "brain creatine kinase; creatine kinase B chain; creatine kinase B-type isoform 1; creatine kinase B-type; creatine kinase brain-type; creatine kinase brain; creatine phosphokinase B-type; epididymis luminal protein 211; epididymis secretory protein Li 29", "tax_id": 9606, "disease": "left ventricular failure (Disease Ontology:DOID:0051064)", "pathway": " (hsa:1152); (R-HSA-71288); (R-HSA-9696264)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "11237011;11555793;11940653;12842009;12889669;15044463;15738000;16981706;18566107;18566446;18669648;18977227;18996843;19117535;19413330;19651622;20058876;20068231;20112406;20811643;22905912;23186163;2324105;23481700;23719902;24126823;25576301;25645385;25880248;26969432;26992070;27600516;2771648;2828370;28510447;2883200;28832583;28904123;2914937;29314611;29331515;29393594;29493099;29557506;29632711;29786170;29789417;30192525;30315122;3034271;30484775;31154438;31611695;31844290;31871319;32119511;32157095;32350084;32357974;32387766;32513959;32897882;32938616;32983136;33043033;33214551;33268465;33592498;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34706306;34725712;34932366;35008409;35051231;35138101;35251023;35318648;35580925;36010968;36215666;36241641;3692484;37156912;37938771;7637327;7945388;8186255;8649376;8651275;9148748;9218780;9722522", "class_list": "", "function": "CKB inhibits epithelial-mesenchymal transition and prostate cancer progression by sequestering and inhibiting AKT activation., [RefSeq, PubMed]; Creatine kinase B suppresses ferroptosis by phosphorylating GPX4 through a moonlighting function., [RefSeq, PubMed]; Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate) (PubMed:8186255). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa (Probable). Acts as a key regulator of adaptive thermogenesis as part of the futile creatine cycle: localizes to the mitochondria of thermogenic fat cells and acts by mediating phosphorylation of creatine to initiate a futile cycle of creatine phosphorylation and dephosphorylation (By similarity). During the futile creatine cycle, creatine and N-phosphocreatine are in a futile cycle, which dissipates the high energy charge of N-phosphocreatine as heat without performing any mechanical or chemical work (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K236;B2R5R4;Q2LE07;Q6FG40;Q9UC66", "ec_number_list": [ { "id": "3.4.17.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.22", "type": "external" }, { "id": "2.7.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" } ], "go_molecular_function": "GO:0004111 creatine kinase activity;GO:0005524 ATP binding;GO:0031625 ubiquitin protein ligase binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0046314 phosphocreatine biosynthetic process;GO:0021762 substantia nigra development;GO:0140651 futile creatine cycle", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "P12277-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14CZ7-1", "uniprot_id": [ { "id": "FAKD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14CZ7", "type": "external" } ], "mass": 75689.0, "length": 662, "protein_name": "FAST kinase domain-containing protein 3, mitochondrial", "gene_name": "FASTKD3", "organism": "Human", "refseq_name": "FAST kinase domain-containing protein 3, mitochondrial", "refseq_ac": [ { "id": "NP_076996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076996", "type": "external" } ], "gene_names_uniprotkb": "FASTKD3", "gene_names_refseq": "FASTKD3", "protein_names_uniprotkb": "FAST kinase domain-containing protein 3, mitochondrial", "protein_names_refseq": "FAST kinase domain-containing protein 3, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:79072)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;16959974;20869947;24714562;24715725;25576301;26992070;27789713;28832583;28904123;29036396;29393594;30484775;30779550;31154438;31844290;32157095;32357974;32488085;32897882;32938616;32983136;33141586;33912179;33968037;34171305;34357683;35051231;36241641", "class_list": "", "function": "Despite the fact that proteins of the FASTK family FASTKD1-5 share the same domains, they exhibit various-sometimes opposing-functions in almost all steps of mitochondrial RNA metabolism. Review article, [RefSeq, PubMed]; FASTKD3 is required for efficient COX1 mRNA translation without altering mRNA levels, which results in a decrease in the steady-state levels of COX1 protein., [RefSeq, PubMed]; Required for normal mitochondrial respiration (PubMed:20869947). Increases steady-state levels and half-lives of a subset of mature mitochondrial mRNAs MT-ND2, MT-ND3, MT-CYTB, MT-CO2, and MT-ATP8/6. Promotes MT-CO1 mRNA translation and increases mitochondrial complex IV assembly and activity (PubMed:27789713)., [UniProtKB, PubMed, PubMed]; These results introduce FASTKD3 as an essential component of mitochondrial respiration that may modulate energy balance in cells exposed to adverse conditions by functionally coupling mitochondrial protein synthesis to respiration., [RefSeq, PubMed]; This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BVD3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0035770 ribonucleoprotein granule", "go_biological_process": "GO:0000963 mitochondrial RNA processing;GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0070131 positive regulation of mitochondrial translation;GO:0044528 regulation of mitochondrial mRNA stability", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q14CZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N612-1", "uniprot_id": [ { "id": "FHI1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N612", "type": "external" } ], "mass": 105568.0, "length": 972, "protein_name": "FHF complex subunit HOOK-interacting protein 1B", "gene_name": "FHIP1B", "organism": "Human", "refseq_name": "FHF complex subunit HOOK-interacting protein 1B isoform 2", "refseq_ac": [ { "id": "NP_001092264", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092264", "type": "external" } ], "gene_names_uniprotkb": "FHIP1B; C11orf56; FAM160A2; KIAA1759", "gene_names_refseq": "C11orf56; FAM160A2; FHIP1B; FHIP", "protein_names_uniprotkb": "FHF complex subunit HOOK-interacting protein 1B; FHIP1B; FHIP; FTS- and Hook-interacting protein", "protein_names_refseq": "FHF complex subunit HOOK-interacting protein 1B isoform 2; FTS and Hook-interacting protein; family with sequence similarity 160 member A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84067)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11230166;11237011;18669648;18799622;20068231;23186163;24275569;25576301;25892735;28904123;29557506;31844290;32073997;32157095;32387766;32938616;33298915;33392160;33968037;34185709;34509645;34561969;35051231;35580925;36010968", "class_list": "", "function": "Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell (PubMed:32073997)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9C0A4;Q9H0N3;Q9H624", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070695 FHF complex", "go_biological_process": "GO:0098840 protein transport along microtubule;GO:0007032 endosome organization;GO:0007040 lysosome organization;GO:0008333 endosome to lysosome transport;GO:0045022 early endosome to late endosome transport", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8N612-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16617-1", "uniprot_id": [ { "id": "NKG7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16617", "type": "external" } ], "mass": 17665.0, "length": 165, "protein_name": "Protein NKG7", "gene_name": "NKG7", "organism": "Human", "refseq_name": "protein NKG7 isoform 1", "refseq_ac": [ { "id": "NP_005592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005592", "type": "external" } ], "gene_names_uniprotkb": "NKG7; GIG1", "gene_names_refseq": "GIG1; GMP-17; NKG7; p15-TIA-1", "protein_names_uniprotkb": "Protein NKG7; G-CSF-induced gene 1 protein; GIG-1 protein; GMP-17; Granule membrane protein of 17 kDa; Natural killer cell protein 7; p15-TIA-1", "protein_names_refseq": "G-CSF-induced gene 1 protein; GIG-1 protein; granule membrane protein 17; granule membrane protein of 17 kDa; natural killer cell group 7 sequence; natural killer cell protein 7; protein NKG7 isoform 1; protein NKG7", "tax_id": 9606, "disease": "", "pathway": " (hsa:4818)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;25802875;28832583;28904123;29242379;29557506;29786170;30429286;31154438;31844290;32839608;33141586;34185709;35051231;35580925;7510105;8458737;8570616", "class_list": "", "function": "Regulates cytotoxic granule exocytosis in effector lymphocytes, thus acting as a critical mediator of inflammation in a broad range of infectious and non-infectious diseases (By similarity). Essential for cytotoxic degranulation of natural killer (NK) cells and CD8(+) T-cells and for the activation of CD4(+) T-cells following infection (By similarity). Plays a critical role in CD8(+) T-cell and NK cell-mediated cytolysis of target cells and contributes to the cytolytic activity via the perforin/granzyme pathway by enhancing exocytosis of LAMP1-carrying lytic granules (By similarity). Contributes to NK cell-mediated control of cancer metastasis (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0044194 cytolytic granule;GO:0101004 cytolytic granule membrane;GO:0016020 membrane", "go_biological_process": "GO:0035710 CD4-positive, alpha-beta T cell activation;GO:0006954 inflammatory response;GO:0050729 positive regulation of inflammatory response;GO:0031640 killing of cells of another organism;GO:0042832 defense response to protozoan", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q16617-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCE2-1", "uniprot_id": [ { "id": "MTMRE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCE2", "type": "external" } ], "mass": 72203.0, "length": 650, "protein_name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14", "gene_name": "MTMR14", "organism": "Human", "refseq_name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 2", "refseq_ac": [ { "id": "NP_001070993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070993", "type": "external" } ], "gene_names_uniprotkb": "MTMR14; C3orf29", "gene_names_refseq": "C3orf29; MTMR14", "protein_names_uniprotkb": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14; 3.1.3.95; HCV NS5A-transactivated protein 4 splice variant A-binding protein 1; Myotubularin-related protein 14; NS5ATP4ABP1; Phosphatidylinositol-3-phosphate phosphatase; hJumpy", "protein_names_refseq": "NS5ATP4ABP1; egg-derived tyrosine phosphatase homolog; jumpy; phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14 isoform 2; phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14; phosphatidylinositol-3-phosphate phosphatase", "tax_id": 9606, "disease": "centronuclear myopathy 1 (Disease Ontology:DOID:0111223)", "pathway": " (hsa:64419); (R-HSA-1632852); (R-HSA-1660499)", "pathway_count": 3, "publication_count": 166, "publication_id_list": "10.1101/2023.09.13.557529;10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11096062;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11825910;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;14516276;14617813;14660569;15080793;15107860;15135396;15187094;15464023;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16914545;16963840;16979564;17008356;17245604;17618624;17651088;17924679;18093523;18220336;18321988;18439900;18753295;19038970;19211835;19322194;19590496;19608861;19855179;19896968;19898463;20059746;20068231;20534812;20595810;20713597;20921139;21177865;21204784;21205641;21258367;21383122;21460621;21819378;22037487;22170151;22647598;22682742;23186163;23202584;23519112;23685627;23727157;23758345;23884233;24129315;24397554;24747438;24954904;25418920;25469497;25484072;25495341;25568151;25576301;25645385;25892735;26154972;26929215;27600516;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29393594;29557506;29632046;29769354;30410026;30586604;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33968037;33981976;34357683;34561969;34932366;35051231;35251023;35318648;35580925;36241641;36528685;39534244;7608176;7624799;7628435;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "A conserved MTMR lipid phosphatase increasingly suppresses autophagy in brain neurons during aging. Publication Status: Online-Only, [RefSeq, PubMed]; Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate., [UniProtKB, PubMed]; Results demonstrated that MTMR14 expression is overexpressed in liver cancer. A loss-of-function study showed that knockdown of MTMR14 promotes cell apoptosis and inhibits cell migration, and inhibits tumor migration in vivo in a liver cancer peritoneal implantation nude mouse model., [RefSeq, PubMed]; Study identified a novel phosphoinositide phosphatase, JUMPY in sporadic cases of centronuclear myopathy; two missense variants that affect the enzymatic function were found GeneRIF: C3orf29 encodes hJUMPY, a phosphoinositide 3-phosphate phosphatase that acts on PtdIns3P and PtdIns(3,5)P2. A missense mutation disrupts the catalytic activity in a patient with centronuclear myopathy., [RefSeq, PubMed]; The authors uncovered a key negative regulatory role in autophagy of a phosphatidylinositol 3-phosphate (PI3P) phosphatase Jumpy (MTMR14)., [RefSeq, PubMed]; This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]., [RefSeq]; This study provides the first in vivo evidence for a role of myotubularins, and in particular MTMR14, in the regulation of autophagy., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q0JTH5;Q0JU83;Q6PIZ4;Q6QE21;Q86VK9;Q8IYK1;Q8TCM7;Q9H6C0", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0001726 ruffle", "go_biological_process": "GO:0016236 macroautophagy;GO:0006661 phosphatidylinositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q8NCE2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV68-1", "uniprot_id": [ { "id": "RN126_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV68", "type": "external" } ], "mass": 33861.0, "length": 311, "protein_name": "E3 ubiquitin-protein ligase RNF126", "gene_name": "RNF126", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF126 isoform 1", "refseq_ac": [ { "id": "NP_919442", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_919442", "type": "external" } ], "gene_names_uniprotkb": "RNF126", "gene_names_refseq": "RNF126", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF126; 2.3.2.27; RING finger protein 126", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF126 isoform 1; E3 ubiquitin-protein ligase RNF126", "tax_id": 9606, "disease": "", "pathway": " (hsa:55658); (R-HSA-983168)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18662542;18691976;19028597;19352404;19452197;19489725;19851334;19874575;19940261;20068231;21209280;2261476;23026136;23186163;23277564;23418353;23481700;24275455;24981174;25418920;26992070;27193484;28063628;28228285;28832583;28904123;29042515;29242379;29393594;29632046;29786170;30410026;31844290;32157095;32254065;32265295;32387766;33141586;33592498;33912179;33968037;34357683;34533052;35051231;36068398;36215666;36539893;36563124;37938771;38665916;9380723;9668046", "class_list": "", "function": "E3 ubiquitin-protein ligase that mediates ubiquitination oF target proteins (PubMed:23277564, PubMed:24275455, PubMed:24981174, PubMed:36563124). Depending on the associated E2 ligase, mediates 'Lys-27'-, 'Lys-29'-, 'Lys-48'- and/or 'Lys-63'-linked polyubiquitination of substrates (PubMed:36563124). Part of a BAG6-dependent quality control process ensuring that proteins of the secretory pathway that are mislocalized to the cytosol are degraded by the proteasome. Probably acts by providing the ubiquitin ligase activity associated with the BAG6 complex and be responsible for ubiquitination of the hydrophobic mislocalized proteins and their targeting to the proteasome (PubMed:24981174, PubMed:29042515). May also play a role in the endosomal recycling of IGF2R, the cation-independent mannose-6-phosphate receptor (PubMed:24275455). May play a role in the endosomal sorting and degradation of several membrane receptors including EGFR, FLT3, MET and CXCR4, by mediating their ubiquitination (PubMed:23418353). By ubiquitinating CDKN1A/p21 and targeting it for degradation, may also promote cell proliferation (PubMed:23026136). May monoubiquitinate AICDA (PubMed:23277564). Acts as a regulator of DNA repair by mediating 'Lys-27'- and 'Lys-29'-linked polyubiquitination of MRE11, thereby promoting the exonuclease activity of MRE11 (PubMed:36563124)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Identify a unique cofactor, RING finger protein 126 (RNF126), verify its interaction by traditional techniques, and show that it has functional consequences as RNF126 is able to ubiquitylate activation-induced cytidine deaminase, [RefSeq, PubMed]; Overexpression of RNF126 is associated with poor prognosis and contributes to the progression of lung adenocarcinoma., [RefSeq, PubMed]; RNF126 contributes to stem cell-like properties and metastasis in hepatocellular carcinoma through ubiquitination and degradation of LKB1., [RefSeq, PubMed]; RNF126-Mediated MRE11 Ubiquitination Activates the DNA Damage Response and Confers Resistance of Triple-Negative Breast Cancer to Radiotherapy. Erratum:[Adv Sci (Weinh). 2025 Mar;12(9):e2417701. doi: 10.1002/advs.202417701. PMID: 39888281], [RefSeq, PubMed]; Ring finger protein 126 promotes breast cancer metastasis and serves as a potential target to improve the therapeutic sensitivity of ATR inhibitors. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]., [RefSeq]; These findings suggest that RNF126 promotes cancer cell proliferation by targeting p21 for ubiquitin-mediated degradation, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NWX1", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005154 epidermal growth factor receptor binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0042127 regulation of cell population proliferation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0042147 retrograde transport, endosome to Golgi;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9BV68-1", "record_type": "protein", "filter_code": "0001000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P19387-1", "uniprot_id": [ { "id": "RPB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P19387", "type": "external" } ], "mass": 31441.0, "length": 275, "protein_name": "DNA-directed RNA polymerase II subunit RPB3", "gene_name": "POLR2C", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB3", "refseq_ac": [ { "id": "NP_116558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116558", "type": "external" } ], "gene_names_uniprotkb": "POLR2C; A-152E5.7", "gene_names_refseq": "POLR2C; RPB31; RPB3; hRPB33; hsRPB3", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB3; DNA-directed RNA polymerase II 33 kDa polypeptide; DNA-directed RNA polymerase II subunit C; RNA polymerase II subunit 3; RNA polymerase II subunit B3; RPB31; RPB33", "protein_names_refseq": "DNA-directed RNA polymerase II 33 kDa polypeptide; DNA-directed RNA polymerase II subunit C; DNA-directed RNA polymerase II subunit RPB3; RNA polymerase II subunit 3; RNA polymerase II subunit B3; RPB33; polymerase (RNA) II (DNA directed) polypeptide C, 33kDa; polymerase (RNA) II subunit C", "tax_id": 9606, "disease": "", "pathway": " (hsa:5432); (R-HSA-112382); (R-HSA-113418); (R-HSA-167152); (R-HSA-167158); (R-HSA-167160); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-167200); (R-HSA-167238); (R-HSA-167242); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-168325); (R-HSA-203927); (R-HSA-5578749); (R-HSA-5601884); (R-HSA-5617472); (R-HSA-674695); (R-HSA-6781823); (R-HSA-6781827); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6796648); (R-HSA-6803529); (R-HSA-6807505); (R-HSA-72086); (R-HSA-72163); (R-HSA-72165); (R-HSA-72203); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-75955); (R-HSA-76042); (R-HSA-77075); (R-HSA-8851708); (R-HSA-9018519); (R-HSA-9670095); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 44, "publication_count": 651, "publication_id_list": 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"class_list": "", "function": "Core component of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase which synthesizes mRNA precursors and many functional non-coding RNAs using the four ribonucleoside triphosphates as substrates., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; EEF1gamma, in addition to its role in translation elongation complex, is involved in regulating Vimentin gene by contacting both pol II and the Vimentin promoter region and shuttling/nursing the Vimentin mRNA Publication Status: Online-Only, [RefSeq, PubMed]; FUS low-complexicity phase separates to recruit RNA polymerase II C-terminal domain in vitro., [RefSeq, PubMed]; These findings suggest that N-terminus of Rpb3 selectively inhibits Rpb3-high-expression hepatocellular carcinoma cells proliferation. N-terminus of Rpb3 may be useful in treating patients diagnosed with Rpb3-high-expression hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O15161", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005665 RNA polymerase II, core complex;GO:0000428 DNA-directed RNA polymerase complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 65.4, "record_id": "P19387-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y342-1", "uniprot_id": [ { "id": "PLLP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y342", "type": "external" } ], "mass": 19987.0, "length": 182, "protein_name": "Plasmolipin", "gene_name": "PLLP", "organism": "Human", "refseq_name": "plasmolipin", "refseq_ac": [ { "id": "NP_057077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057077", "type": "external" } ], "gene_names_uniprotkb": "PLLP; PMLP; TM4SF11", "gene_names_refseq": "PLLP; PMLP; TM4SF11", "protein_names_uniprotkb": "Plasmolipin; Plasma membrane proteolipid", "protein_names_refseq": "plasma membrane proteolipid (plasmolipin); plasmolipin; transmembrane 4 superfamily member 11 (plasmolipin)", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:51090)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;18691976;23186163;26002055;31154438;34087483;34999972;35015148;35051231;37664934", "class_list": "", "function": "Integrative omics analysis identifies biomarkers of idiopathic pulmonary fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Main component of the myelin sheath that plays an important role in myelin membrane biogenesis and myelination (PubMed:26002055). Plays an essential function in apical endocytosis. Regulates epithelial development through the regulation of apical endocytosis (By similarity). Part of the intracellular machinery that mediates basolateral-to-apical transport of ICAM-1, an essential adhesion receptor in epithelial cells, from the subapical compartment in hepatic epithelial cells (PubMed:34999972)., [UniProtKB, UniProtKB, PubMed, PubMed]; Structure of the Myelin Sheath Proteolipid Plasmolipin (PLLP) in a Ganglioside-Containing Lipid Raft., [RefSeq, PubMed]; These data support a model in which PLLP functions in myelin biogenesis through organization of myelin liquid-ordered membranes in the Golgi complex., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9T6", "ec_number_list": [], "go_molecular_function": "GO:0019911 structural constituent of myelin sheath;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043209 myelin sheath;GO:0045121 membrane raft", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0030100 regulation of endocytosis;GO:0042552 myelination;GO:0032288 myelin assembly;GO:1904298 regulation of transcytosis", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y342-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15160-1", "uniprot_id": [ { "id": "RPAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15160", "type": "external" } ], "mass": 39250.0, "length": 346, "protein_name": "DNA-directed RNA polymerases I and III subunit RPAC1", "gene_name": "POLR1C", "organism": "Human", "refseq_name": "DNA-directed RNA polymerases I and III subunit RPAC1 isoform 2", "refseq_ac": [ { "id": "NP_001305805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305805", "type": "external" } ], "gene_names_uniprotkb": "POLR1C; POLR1E", "gene_names_refseq": "AC40; HLD11; POLR1C; RPA39; RPA40; RPA5; RPAC1; RPC40; TCS3", "protein_names_uniprotkb": "DNA-directed RNA polymerases I and III subunit RPAC1; AC40; DNA-directed RNA polymerase I subunit C; DNA-directed RNA polymerases I and III 40 kDa polypeptide; RNA polymerases I and III subunit AC1; RPA39; RPA40; RPC40", "protein_names_refseq": "DNA-directed RNA polymerase I subunit C; DNA-directed RNA polymerases I and III 40 kDa polypeptide; DNA-directed RNA polymerases I and III subunit RPAC1 isoform 2; DNA-directed RNA polymerases I and III subunit RPAC1; RNA polymerase I subunit C; RNA polymerases I and III subunit AC1; polymerase (RNA) I polypeptide C, 30kDa; polymerase (RNA) I subunit C", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 11 (Disease Ontology:DOID:0060792); Treacher Collins syndrome 3 (Disease Ontology:DOID:0080791); Treacher Collins syndrome (Disease Ontology:DOID:2908)", "pathway": " (hsa:9533); (R-HSA-1834949); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73780); (R-HSA-73863); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 13, "publication_count": 153, "publication_id_list": "10082553;10421633;10471499;10913176;11056176;11118217;11237011;11250901;11419933;11463379;12381659;12391170;12393749;12646563;14610093;14969726;1547496;15558034;15592455;16514417;16603771;17318177;17355984;19158675;19158676;19158679;1946469;19609254;19631370;19838300;20068231;20413673;21131976;21398614;21559432;22223895;22424782;22805593;22869377;23186163;23251783;23388631;23555303;23667505;2404611;24397554;24715725;24901984;24952918;25418920;25576301;25645385;25810538;25880248;25892735;25916849;26151409;26375851;26811146;26992070;27418187;27418309;27600516;27846572;27920218;2805069;28063628;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29786170;29789417;30315122;30524438;30779550;31154438;31222486;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33335104;33392160;33537174;33558764;33558766;33592498;33674783;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34211107;34229054;34405274;34509645;34671025;34675218;34725712;34887565;34932366;35008409;35051231;35318648;35561310;35580925;36010968;36241641;36271492;36284347;40914422;7491500;7568218;7597036;7801123;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9540830;9582279;9653160;9660958", "class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively. POLR1C/RPAC1 is part of the polymerase core and may function as a clamp element that moves to open and close the cleft., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O75395;Q5JTE3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0006362 transcription elongation by RNA polymerase I;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription;GO:0006384 transcription initiation at RNA polymerase III promoter", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "O15160-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96J02-1", "uniprot_id": [ { "id": "ITCH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96J02", "type": "external" } ], "mass": 102803.0, "length": 903, "protein_name": "E3 ubiquitin-protein ligase Itchy homolog", "gene_name": "ITCH", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase Itchy homolog isoform 1", "refseq_ac": [ { "id": "NP_001244066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244066", "type": "external" } ], "gene_names_uniprotkb": "ITCH", "gene_names_refseq": "ADMFD; AIF4; AIP4; ITCH; NAPP1", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase Itchy homolog; 2.3.2.26; AIP4; Atrophin-1-interacting protein 4; HECT-type E3 ubiquitin transferase Itchy homolog; Itch; NAPP1; NFE2-associated polypeptide 1", "protein_names_refseq": "E3 ubiquitin-protein ligase Itchy homolog isoform 1; HECT-type E3 ubiquitin transferase Itchy homolog; NFE2-associated polypeptide 1; atrophin-1 interacting protein 4; itchy E3 ubiquitin protein ligase homolog", "tax_id": 9606, "disease": "syndromic multisystem autoimmune disease due to ITCH deficiency (MONDO:MONDO:0013245)", "pathway": " (hsa:83737); (R-HSA-1253288); (R-HSA-168638); (R-HSA-2122948); (R-HSA-5610780); (R-HSA-5632684); (R-HSA-5675482); (R-HSA-8939236); (R-HSA-936440); (R-HSA-9692916); (R-HSA-983168)", "pathway_count": 11, "publication_count": 362, "publication_id_list": "10206645;10224040;10329646;10433824;10564661;10702308;10879540;10882063;10966113;11006133;11027307;11046148;11062501;11087742;11226752;11237011;11318614;11350924;11460167;11740940;11847229;11960000;12050670;12068298;12123571;12138125;12209127;12226085;12354787;12426310;12514169;12527755;12530964;12646216;12791997;12796777;12917691;14514672;14528312;14559117;14567914;14602072;14611647;14633987;14734113;15051726;15115751;15198976;15208624;15224091;15224092;15300262;15327770;15571818;15574878;15620648;15652348;15678106;15760269;15824097;15829515;15965470;16061793;16093323;16136078;16155214;16282325;16284625;16387660;16421275;16446428;16459297;16459298;16595681;16611981;16651542;16699525;16705181;16715065;16740475;16849449;16888620;16954532;16980583;17003037;17028573;17035307;17047224;17115028;17270291;17283082;17303577;17401372;17412287;17437719;17442700;17463226;17496917;17562858;17596301;17641202;17644308;17652093;17761676;17991829;18043734;18057259;18077452;18079694;18200010;18237417;18280240;18296446;18455992;18497258;18570872;18628966;18662542;18700817;18701449;18718448;18718449;18819914;18824583;18824585;18827223;18832070;19000840;19028597;19047365;19056373;19116316;19125153;19131965;19151708;19193720;19305393;19352404;19368795;19371734;19380580;19398035;19452197;19489725;19524514;19533801;19535145;19549984;19567869;19580544;19592251;19592253;19622347;19666503;19684112;19726682;19818708;19851334;19852954;19874575;19878745;19881509;19893624;19940261;19955409;19996169;20014402;20016067;20068034;20154143;20170897;20300203;20304918;20360384;20392206;20434986;20460306;20487519;20491914;20512148;20643644;20682038;20818436;20844016;20858735;20887958;20889716;20956384;21191027;21571218;21654843;21695114;21737330;21801010;21878643;22007132;22012064;22046132;22162134;22179831;22253733;22299025;22312431;22391301;2261476;22778262;22897851;22982193;23146885;23230144;23236378;23332756;23483519;23719536;23725801;23886940;23955340;24072710;24302888;24509444;24582806;24622840;24714562;24790097;24845016;24854014;24854174;24925320;25043025;25135833;25394790;25418920;25502872;25576301;25631046;25632008;25645385;25764917;25852146;25907116;25996294;26154972;26320399;26375851;26378163;26555021;26775703;26854353;26866270;26900751;26929215;26933192;26992070;27137657;27164085;27203180;27489272;27600516;27846572;27912080;28063628;28148787;28218747;28228285;28411811;28467828;28661484;28832583;28834231;28855257;29242379;29294448;29314611;29378950;29393594;29437277;29493099;29508533;29535361;29557506;29632046;29632711;29769354;29883609;29883610;29930286;30185776;30315122;30328013;30410026;30429286;30517763;30573663;30626607;30770249;31020640;31031142;31034780;31138766;31154438;31231549;31358971;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32728199;32897882;32938616;32983136;33060197;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34171305;34185709;34357683;34725712;34927784;34932366;34999730;35051231;35154160;35251023;35580925;36010968;36215666;36284347;38503285;38597989;39259704;40914422;8313469;9244301;9315665;9380723;9430721;9462510;9590294;9601642;9604939;9620803;9647693;9651681;9668046;9744859;9819428;9874371;9989503", "class_list": "", "function": "Acts as an Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates (PubMed:11046148, PubMed:14602072, PubMed:15051726, PubMed:16387660, PubMed:17028573, PubMed:18718448, PubMed:18718449, PubMed:19116316, PubMed:19592251, PubMed:19881509, PubMed:20068034, PubMed:20392206, PubMed:20491914, PubMed:23146885, PubMed:24790097, PubMed:25631046). Catalyzes 'Lys-29'-, 'Lys-48'- and 'Lys-63'-linked ubiquitin conjugation (PubMed:17028573, PubMed:18718448, PubMed:19131965, PubMed:19881509). Involved in the control of inflammatory signaling pathways (PubMed:19131965). Essential component of a ubiquitin-editing protein complex, comprising also TNFAIP3, TAX1BP1 and RNF11, that ensures the transient nature of inflammatory signaling pathways (PubMed:19131965). Promotes the association of the complex after TNF stimulation (PubMed:19131965). Once the complex is formed, TNFAIP3 deubiquitinates 'Lys-63' polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:19131965). This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NFKB1 (PubMed:19131965). Ubiquitinates RIPK2 by 'Lys-63'-linked conjugation and influences NOD2-dependent signal transduction pathways (PubMed:19592251). Regulates the transcriptional activity of several transcription factors, and probably plays an important role in the regulation of immune response (PubMed:18718448, PubMed:20491914). Ubiquitinates NFE2 by 'Lys-63' linkages and is implicated in the control of the development of hematopoietic lineages (PubMed:18718448). Mediates JUN ubiquitination and degradation (By similarity). Mediates JUNB ubiquitination and degradation (PubMed:16387660). Critical regulator of type 2 helper T (Th2) cell cytokine production by inducing JUNB ubiquitination and degradation (By similarity). Involved in the negative regulation of MAVS-dependent cellular antiviral responses (PubMed:19881509). Ubiquitinates MAVS through 'Lys-48'-linked conjugation resulting in MAVS proteasomal degradation (PubMed:19881509). Following ligand stimulation, regulates sorting of Wnt receptor FZD4 to the degradative endocytic pathway probably by modulating PI42KA activity (PubMed:23146885). Ubiquitinates PI4K2A and negatively regulates its catalytic activity (PubMed:23146885). Ubiquitinates chemokine receptor CXCR4 and regulates sorting of CXCR4 to the degradative endocytic pathway following ligand stimulation by ubiquitinating endosomal sorting complex required for transport ESCRT-0 components HGS and STAM (PubMed:14602072, PubMed:23146885, PubMed:34927784). Targets DTX1 for lysosomal degradation and controls NOTCH1 degradation, in the absence of ligand, through 'Lys-29'-linked polyubiquitination (PubMed:17028573, PubMed:18628966, PubMed:23886940). Ubiquitinates SNX9 (PubMed:20491914). Ubiquitinates MAP3K7 through 'Lys-48'-linked conjugation (By similarity). Together with UBR5, involved in the regulation of apoptosis and reactive oxygen species levels through the ubiquitination and proteasomal degradation of TXNIP: catalyzes 'Lys-48'-/'Lys-63'-branched ubiquitination of TXNIP (PubMed:20068034, PubMed:29378950). ITCH synthesizes 'Lys-63'-linked chains, while UBR5 is branching multiple 'Lys-48'-linked chains of substrate initially modified (PubMed:29378950). Mediates the antiapoptotic activity of epidermal growth factor through the ubiquitination and proteasomal degradation of p15 BID (PubMed:20392206). Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Inhibits the replication of influenza A virus (IAV) via ubiquitination of IAV matrix protein 1 (M1) through 'Lys-48'-linked conjugation resulting in M1 proteasomal degradation (PubMed:30328013). Ubiquitinates NEDD9/HEF1, resulting in proteasomal degradation of NEDD9/HEF1 (PubMed:15051726)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Describe, in ten patients, identification of a mutation resulting in truncation of ITCH. These patients not only have multisystem autoimmune disease but also display morphologic and developmental abnormalities., [RefSeq, PubMed]; Gene expression regulation; coregulates hematopoietic transcription factor NF-E2, [RefSeq, PubMed]; Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH., [RefSeq, PubMed]; NEDD4 family ubiquitin ligase AIP4 interacts with Alix to enable HBV naked capsid egress in an Alix ubiquitination-independent manner. Publication Status: Online-Only, [RefSeq, PubMed]; The E3 ubiquitin ligase ITCH negatively regulates intercellular communication via gap junctions by targeting connexin43 for lysosomal degradation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein plays a role in multiple cellular processes including erythroid and lymphoid cell differentiation and the regulation of immune responses. Mutations in this gene are a cause of syndromic multisystem autoimmune disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NEW4;B4E234;E1P5P3;F5H217;O43584;Q5QP37;Q5TEL0;Q96F66;Q9BY75;Q9H451;Q9H4U5", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0043021 ribonucleoprotein complex binding;GO:1990763 arrestin family protein binding;GO:0061630 ubiquitin protein ligase activity;GO:0019787 ubiquitin-like protein transferase activity;GO:0034450 ubiquitin-ubiquitin ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:2000646 positive regulation of receptor catabolic process;GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway;GO:0006954 inflammatory response;GO:0031623 receptor internalization;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 36.5, "record_id": "Q96J02-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NI60-1", "uniprot_id": [ { "id": "COQ8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NI60", "type": "external" } ], "mass": 71950.0, "length": 647, "protein_name": "Atypical kinase COQ8A, mitochondrial", "gene_name": "COQ8A", "organism": "Human", "refseq_name": "atypical kinase COQ8A, mitochondrial", "refseq_ac": [ { "id": "NP_064632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064632", "type": "external" } ], "gene_names_uniprotkb": "COQ8A; ADCK3; CABC1; PP265", "gene_names_refseq": "ADCK3; ARCA2; CABC1; COQ10D4; COQ8A; COQ8; SCAR9", "protein_names_uniprotkb": "Atypical kinase COQ8A, mitochondrial; 2.7.-.-; Chaperone activity of bc1 complex-like; Chaperone-ABC1-like; Coenzyme Q protein 8A; aarF domain-containing protein kinase 3", "protein_names_refseq": "aarF domain-containing protein kinase 3; atypical kinase ADCK3, mitochondrial; atypical kinase COQ8A, mitochondrial; chaperone activity of bc1 complex-like, mitochondrial; chaperone, ABC1 activity of bc1 complex homolog; coenzyme Q protein 8A; coenzyme Q8 homolog", "tax_id": 9606, "disease": "coenzyme Q10 deficiency disease (Disease Ontology:DOID:0050730); primary coenzyme Q10 deficiency 4 (Disease Ontology:DOID:0070241); nephrotic syndrome type 9 (Disease Ontology:DOID:0080391); nephrotic syndrome (Disease Ontology:DOID:1184)", "pathway": " (hsa:56997); (R-HSA-2142789)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10501970;10777520;11888884;12721307;15153069;15498874;16262699;16624818;17344846;17374725;17916383;18319072;18319074;20580948;21296186;21540551;21944752;22036850;23354120;24048965;24218524;24270420;25152161;25216398;25339443;25498144;25540914;25576301;26154972;26818466;27106809;27155576;27499294;27499296;28228285;29493099;29557506;31844290;32707086;32938616;32983136;33622667;33691108;33912179;33936100;33981976;34471290;35051231;35580925;36215666;36302899;36306796;36658222;38425362;8621692;9083049", "class_list": "", "function": "Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:21296186, PubMed:25498144, PubMed:25540914, PubMed:27499294, PubMed:36302899, PubMed:38425362). Its substrate specificity is still unclear: may act as a protein kinase that mediates phosphorylation of COQ3 (By similarity). According to other reports, acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (PubMed:25498144, PubMed:27499294). However, the small molecule kinase activity was not confirmed by another publication (By similarity). Shows an unusual selectivity for binding ADP over ATP (PubMed:25498144)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; CABC1 gene mutations in four ubiquinone-deficient patients in three distinct families were reported., [RefSeq, PubMed]; Five additional mutations in ADCK3 were found in three patients with sporadic ataxia, including one known to have CoQ10 deficiency in muscle., [RefSeq, PubMed]; Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review. Review article, [RefSeq, PubMed]; Play an important role in mediating p53-inducible apoptosis through the mitochondrial pathway., [RefSeq, PubMed]; This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 57, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T7A5;Q63HK0;Q8NCJ6;Q9HBQ1;Q9NQ67", "ec_number_list": [ { "id": "2.1.1.201", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.201", "type": "external" }, { "id": "2.7.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.-.-", "type": "external" }, { "id": "1.14.99.60", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.60", "type": "external" }, { "id": "1.14.13.253", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.253", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.114", "type": "external" }, { "id": "2.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.64", "type": "external" }, { "id": "1.14.15.45", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.45", "type": "external" }, { "id": "1.14.15.46", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.46", "type": "external" }, { "id": "4.1.1.130", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.130", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0008047 enzyme activator activity;GO:0043531 ADP binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0031314 extrinsic component of mitochondrial inner membrane;GO:0005739 mitochondrion", "go_biological_process": "GO:0016310 phosphorylation;GO:0006744 ubiquinone biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q8NI60-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WW34-1", "uniprot_id": [ { "id": "TM239_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WW34", "type": "external" } ], "mass": 21842.0, "length": 195, "protein_name": "Transmembrane protein 239", "gene_name": "TMEM239", "organism": "Human", "refseq_name": "transmembrane protein 239 isoform 2", "refseq_ac": [ { "id": "NP_001161142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161142", "type": "external" } ], "gene_names_uniprotkb": "TMEM239", "gene_names_refseq": "TMEM239", "protein_names_uniprotkb": "Transmembrane protein 239", "protein_names_refseq": "transmembrane protein 239 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288797)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "23481700;27869121;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JY54;Q6ZU23", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8WW34-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99525-1", "uniprot_id": [ { "id": "H4G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99525", "type": "external" } ], "mass": 11009.0, "length": 98, "protein_name": "Histone H4-like protein type G", "gene_name": "H4C7", "organism": "Human", "refseq_name": "histone H4-like protein type G", "refseq_ac": [ { "id": "NP_003538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003538", "type": "external" } ], "gene_names_uniprotkb": "H4C7; H4FL; HIST1H4G; L", "gene_names_refseq": "H4/l; H4C7; H4FL; HIST1H4G", "protein_names_uniprotkb": "Histone H4-like protein type G; H4-clustered histone 7", "protein_names_refseq": "H4 histone family, member L; histone 1, H4g; histone H4-like protein type G; histone cluster 1 H4 family member g; histone cluster 1, H4g", "tax_id": 9606, "disease": "", "pathway": " (hsa:8369)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "12408966;26154972;28063628;29393594;29557506;29632046;31219579;31844290;32157095;32938616;35318648;35580925;36241641;9119399", "class_list": "", "function": "A novel histone H4 variant H4G regulates ribosomal DNA transcription in breast cancer., [RefSeq, PubMed]; Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling (By similarity)., [UniProtKB]; Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0000786 nucleosome", "go_biological_process": "GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q99525-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6Q9-1", "uniprot_id": [ { "id": "NCOA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6Q9", "type": "external" } ], "mass": 155293.0, "length": 1424, "protein_name": "Nuclear receptor coactivator 3", "gene_name": "NCOA3", "organism": "Human", "refseq_name": "nuclear receptor coactivator 3 isoform d", "refseq_ac": [ { "id": "NP_001167559", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167559", "type": "external" } ], "gene_names_uniprotkb": "NCOA3; AIB1; BHLHE42; RAC3; TRAM1", "gene_names_refseq": "ACTR; AIB-1; AIB1; CAGH16; CTG26; KAT13B; NCOA3; RAC3; SRC-3; SRC3; TNRC14; TNRC16; TRAM-1; bHLHe42; pCIP", "protein_names_uniprotkb": "Nuclear receptor coactivator 3; 2.3.1.48; ACTR; AIB-1; Amplified in breast cancer 1 protein; CBP-interacting protein; Class E basic helix-loop-helix protein 42; NCoA-3; RAC-3; Receptor-associated coactivator 3; SRC-3; Steroid receptor coactivator protein 3; TRAM-1; Thyroid hormone receptor activator molecule 1; bHLHe42; pCIP", "protein_names_refseq": "CBP-interacting protein; amplified in breast cancer 1 protein; class E basic helix-loop-helix protein 42; nuclear receptor coactivator 3 isoform d; receptor-associated coactivator 3; steroid receptor coactivator 3; steroid receptor coactivator protein 3; thyroid hormone receptor activator molecule 1", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); breast carcinoma (Disease Ontology:DOID:3459); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8202); (R-HSA-1989781); (R-HSA-381340); (R-HSA-5617472); (R-HSA-5687128); (R-HSA-9018519); (R-HSA-9841922)", "pathway_count": 7, "publication_count": 427, "publication_id_list": "10.1101/2023.09.13.557529;10075656;10425206;10470034;10490106;10500157;10558993;10777502;10777541;10828826;10835357;10873660;10882139;10975528;11010967;11027271;11034064;11094166;11095972;11103799;11136970;11165043;11250900;11267664;11345900;11410592;11452016;11581164;11584266;11682626;11804587;11872672;11971985;12118000;12177166;12213831;12498683;12505311;12546821;12582161;12612073;12808096;12829629;12915405;12917342;12959972;1310260;14631847;14645221;14675539;15001666;15067378;15130092;15226418;15273253;15276198;15282324;15343269;15345050;15383283;15514030;15538386;15577943;15635043;15698540;15850785;15867264;15919796;15986123;16009131;16046058;16079151;16087863;16113099;16135815;1630819;16360641;16371649;16380219;16456540;16549775;16951154;16957778;16964243;16971392;16972786;16973613;16980581;17011499;17013392;17161475;17185360;17254968;17277772;17322306;17395884;17428788;17463000;17495528;17510434;1756725;17637753;17646391;17660710;17666587;17690249;17713478;17728103;17761849;17761950;17851529;17947239;17980149;17998543;18031682;18162290;18187655;18219272;18235225;18248330;18256232;18322535;18358809;18476782;18533032;18540824;18593949;18644862;18669648;18690216;18719978;18720373;18762174;18765637;18767875;18781158;18805503;18848529;18922467;18931025;19001364;19020303;19043829;19088433;19098913;19115207;19115252;19166925;19172745;19232136;19274700;19295514;19321454;19339517;19383337;19413330;19473979;19513348;19593530;19608861;19651622;19690332;19710929;19718048;19747919;1975088;19782034;19854132;19934321;20068231;20085832;20101261;20110263;20219941;20220130;20236090;20498280;20536836;20543837;20570965;20682797;20734105;20849292;21106759;21151129;21177870;21317288;21329875;21329882;21372320;21445275;21573489;21577200;2181374;21835891;21878914;21934649;21940756;22056668;22147914;22163316;22265404;22267219;22279049;22424782;22492511;22505454;22508986;22544926;22545144;22569366;22704330;22705304;22800433;22879880;23069990;23145106;23172872;23186163;23192763;23219899;23239344;23301498;23303788;23403292;23435229;23481700;23534758;23630040;23723241;23878308;23906331;24129315;24167369;24174538;24196956;24275569;24309468;24312487;24366607;24371278;24585635;24586203;24714562;24715725;24735615;24854081;24885040;24973012;24998469;25101834;25135475;25296600;25339975;25365482;25418920;25433557;25505266;25542856;25576301;25633194;25663755;25674852;2570724;25728767;25880248;25892735;25913784;26056233;26153859;26154972;26204489;26375851;26462610;26479350;26728094;26758079;26811146;26992070;27062924;27503676;27600516;27846572;27862975;27886276;27920218;28063628;28218747;28228285;28446606;28539435;28832583;28860189;28904123;2919170;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29615789;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;3045126;30524438;30620550;30784271;30833945;31154438;31217245;31222486;31492838;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32516969;32647362;3281094;32897882;32938616;32983136;33141586;33298915;33329381;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34932366;3498214;35051231;35132862;35254053;35318648;35513511;35521817;35561310;35580925;35705054;36010968;36658474;3677090;38253038;38483947;38665916;39302247;39531497;40307207;7488013;7501971;7559524;7559638;7685352;7799959;7831296;7892212;7906964;7908827;7935485;7937828;8107774;8195246;8197458;8325954;8419924;8521497;8521498;8643605;8647822;8674428;8706692;8759021;8770873;8876171;8970730;9012850;9065481;9171241;9201922;9218805;9238002;9252329;9267036;9272954;9338790;9346901;9388265;9454824;9482740;9535855;9611253;9628874;9671459;9727751;9731700;9744270;9747882;9748239;9836620", "class_list": "", "function": "Deficiency of Nuclear Receptor Coactivator 3 Aggravates Diabetic Kidney Disease by Impairing Podocyte Autophagy., [RefSeq, PubMed]; Nuclear receptor coactivator that directly binds nuclear receptors and stimulates the transcriptional activities in a hormone-dependent fashion. Plays a central role in creating a multisubunit coactivator complex, which probably acts via remodeling of chromatin. Involved in the coactivation of different nuclear receptors, such as for steroids (GR and ER), retinoids (RARs and RXRs), thyroid hormone (TRs), vitamin D3 (VDR) and prostanoids (PPARs). Displays histone acetyltransferase activity. Also involved in the coactivation of the NF-kappa-B pathway via its interaction with the NFKB1 subunit., [UniProtKB]; Protective role of circRNA CCND1 in ulcerative colitis via miR-142-5p/NCOA3 axis. Erratum:[BMC Gastroenterol. 2025 Dec 16;25(1):862. doi: 10.1186/s12876-025-04360-6. PMID: 41402743] Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a nuclear receptor coactivator that interacts with nuclear hormone receptors to enhance their transcriptional activator functions. The encoded protein has histone acetyltransferase activity and recruits p300/CBP-associated factor and CREB binding protein as part of a multisubunit coactivation complex. This protein is initially found in the cytoplasm but is translocated into the nucleus upon phosphorylation. Several transcript variants encoding different isoforms have been found for this gene. In addition, a polymorphic repeat region is found in the C-terminus of the encoded protein. [provided by RefSeq, Mar 2010]., [RefSeq]; ZFP64::NCOA3 gene fusion defines a novel subset of spindle cell rhabdomyosarcoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 42, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "A4LAZ5;Q0VF45;Q5JYD9;Q5JYE0;Q9BR49;Q9UPC9;Q9UPG4;Q9UPG7", "ec_number_list": [ { "id": "1.14.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.1", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.4", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.1.1.319", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.319", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "id": "2.3.1.259", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.259", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.199", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.199", "type": "external" }, { "id": "2.3.1.80", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046983 protein dimerization activity;GO:0000993 RNA polymerase II complex binding;GO:0046966 nuclear thyroid hormone receptor binding;GO:0097718 disordered domain specific binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0070561 vitamin D receptor signaling pathway;GO:1902459 positive regulation of stem cell population maintenance;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032870 cellular response to hormone stimulus", "synthesized_glycan_count": 0, "hit_score": 44.6, "record_id": "Q9Y6Q9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3D4-1", "uniprot_id": [ { "id": "P63_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3D4", "type": "external" } ], "mass": 76785.0, "length": 680, "protein_name": "Tumor protein 63", "gene_name": "TP63", "organism": "Human", "refseq_name": "tumor protein 63 isoform 2", "refseq_ac": [ { "id": "NP_001108450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108450", "type": "external" } ], "gene_names_uniprotkb": "TP63; KET; P63; P73H; P73L; TP73L", "gene_names_refseq": "AIS; B(p51A); B(p51B); EEC3; KET; LMS; NBP; OFC8; RHS; SHFM4; TP53CP; TP53L; TP63; TP73L; p40; p51; p53CP; p63; p73H; p73L", "protein_names_uniprotkb": "Tumor protein 63; CUSP; Chronic ulcerative stomatitis protein; Keratinocyte transcription factor KET; TP63; Transformation-related protein 63; Tumor protein p73-like; p40; p51; p63; p73L", "protein_names_refseq": "amplified in squamous cell carcinoma; chronic ulcerative stomatitis protein; keratinocyte transcription factor KET; transformation-related protein 63; tumor protein 63 isoform 2; tumor protein 63; tumor protein p53-competing protein", "tax_id": 9606, "disease": "ADULT syndrome (Disease Ontology:DOID:0050601); Rapp-Hodgkin syndrome (Disease Ontology:DOID:0060330); EEC syndrome (Disease Ontology:DOID:0060782); ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 (Disease Ontology:DOID:0060783); bladder exstrophy-epispadias-cloacal exstrophy complex (Disease Ontology:DOID:0080173); bladder exstrophy (Disease Ontology:DOID:0080174); orofacial cleft 8 (Disease Ontology:DOID:0080401); split hand-foot malformation 4 (Disease Ontology:DOID:0090023); ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Disease Ontology:DOID:0090119); urinary bladder cancer (Disease Ontology:DOID:11054); lung cancer (Disease Ontology:DOID:1324); cancer (Disease Ontology:DOID:162); ectodermal dysplasia (Disease Ontology:DOID:2121); transitional cell carcinoma (Disease Ontology:DOID:2671); testicular cancer (Disease Ontology:DOID:2998); primary ovarian insufficiency (Disease Ontology:DOID:5426); gastroesophageal reflux disease (Disease Ontology:DOID:8534); prostate carcinoma in situ (Disease Ontology:DOID:8634); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); limb-mammary syndrome (MONDO:MONDO:0011334); premature ovarian failure 21 (MONDO:MONDO:0957216)", "pathway": " (hsa:8626); (R-HSA-139915); (R-HSA-5620971); (R-HSA-5628897); (R-HSA-6803204); (R-HSA-6803205); (R-HSA-6803207); (R-HSA-6803211); (R-HSA-6804759); (R-HSA-9725554)", "pathway_count": 10, "publication_count": 282, "publication_id_list": "10329733;10329961;10373484;10393175;10469295;10485447;10535733;10716435;10733530;10745013;10777207;10807576;10839977;10935472;10973264;10980602;11029283;11030628;11034341;11054413;11159940;11237011;11248048;11278253;11336476;11340051;11382926;11390368;11462173;11463392;11477076;11486029;11511362;11528512;11545734;11559530;11572983;11641404;11675392;11684014;11714700;11717445;11919562;11925430;11929852;11959846;12067728;12089322;12161445;12198154;12203114;12203124;12374749;12402042;12438239;12446779;12446784;12453409;12494467;12524540;12606722;12624109;12714747;12766194;12838557;12869586;12906785;12939657;1321151;13298683;13538944;1373520;14614825;14623878;14651849;14684737;14688482;14729977;14983935;15073321;15105503;15126337;15140226;15163024;15200513;15223;15234001;15273740;15289308;15377670;15556625;15577913;15580302;15589136;15598651;15607964;15675955;15735003;15769996;15780751;15797384;15837622;15958553;16135520;16140933;16183742;16230375;16249378;16297201;16382142;16413492;16636147;16728594;16740031;16740912;16760263;16839880;16897187;17134736;17145718;17284521;17298220;17330888;17349958;17442733;17486094;17540029;17719541;17846787;18198340;18275817;18344994;18532927;18617898;18676979;18692468;18769144;18806757;19040420;19113821;19303885;19349281;19377469;19413330;19439913;19487573;19549844;19615968;19783996;19822145;19859801;19924134;20075864;20080666;20123734;20182617;20303873;20351271;20353938;20378837;20586625;21300884;21750704;21958598;22197488;22334068;22363791;22538442;22735594;22766503;22854598;22864287;22975685;23059823;23166821;23182941;23283814;23365256;23481700;23629652;23671130;23684607;23703390;23775793;23931759;24066844;24260043;24366607;24366874;24383451;24594668;24714389;24715725;24718924;24794495;25080938;25356872;25528640;25576301;25579166;25880248;26071602;26154972;26340985;26375003;26375851;26378048;26508369;26652033;27122225;27281216;27383986;27418190;27846572;27862975;27920218;28045099;28392147;28459430;28832583;29177860;29508533;29539421;29559659;29891674;29898893;29990470;30143555;30315122;30429286;30779550;30833945;30905808;30924587;30976076;31092671;31113851;31154438;31217245;31399284;31530632;31844290;31848261;32067224;32109412;32157095;32161166;32188940;32357974;32367036;32502341;32820063;33592498;33691108;33936100;34171305;34561969;34932366;35051231;35318648;35580925;35801529;36284347;36856110;39230995;39234254;39383220;5666113;7566179;7834749;7979252;7989588;7991565;8119488;8242741;9326928;9662346;9662378;9703973;9774969;9799841;9926927", "class_list": "", "function": "Acts as a sequence specific DNA binding transcriptional activator or repressor. The isoforms contain a varying set of transactivation and auto-regulating transactivation inhibiting domains thus showing an isoform specific activity. Isoform 2 activates RIPK4 transcription. May be required in conjunction with TP73/p73 for initiation of p53/TP53 dependent apoptosis in response to genotoxic insults and the presence of activated oncogenes. Involved in Notch signaling by probably inducing JAG1 and JAG2. Plays a role in the regulation of epithelial morphogenesis. The ratio of DeltaN-type and TA*-type isoforms may govern the maintenance of epithelial stem cell compartments and regulate the initiation of epithelial stratification from the undifferentiated embryonal ectoderm. Required for limb formation from the apical ectodermal ridge. Activates transcription of the p21 promoter. Binds to an upstream regulatory region of the DSG1 gene and promotes transcription (PubMed:24594668)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Epigenetic regulation of p63 blocks squamous-to-neuroendocrine transdifferentiation in esophageal development and malignancy., [RefSeq, PubMed]; Human p63 transcripts with unique 5'-ends derived from incorporated exons upstream of the currently mapped TP63 gene, were identified., [RefSeq, PubMed]; Prognostic Impact of Notch1 Intracellular Domain, P63, and c-MYC in Lacrimal Gland Adenoid Cystic Carcinoma., [RefSeq, PubMed]; TP63 transcriptionally regulates SLC7A5 to suppress ferroptosis in head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 20, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 21, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O75080;O75195;O75922;O76078;Q6VEG2;Q6VEG3;Q6VEG4;Q6VFJ1;Q6VFJ2;Q6VFJ3;Q6VH20;Q7LDI3;Q7LDI4;Q7LDI5;Q96KR0;Q9H3D2;Q9H3D3;Q9H3P8;Q9NPH7;Q9P1B4;Q9P1B5;Q9P1B6;Q9P1B7;Q9UBV9;Q9UE10;Q9UP26;Q9UP27;Q9UP28;Q9UP74", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0030425 dendrite;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007219 Notch signaling pathway;GO:0007283 spermatogenesis;GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 28.3, "record_id": "Q9H3D4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43463-1", "uniprot_id": [ { "id": "SUV91_HUMAN", "url": "https://www.uniprot.org/uniprot/O43463", "type": "external" } ], "mass": 47907.0, "length": 412, "protein_name": "Histone-lysine N-methyltransferase SUV39H1", "gene_name": "SUV39H1", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SUV39H1 isoform 1", "refseq_ac": [ { "id": "NP_001269095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269095", "type": "external" } ], "gene_names_uniprotkb": "SUV39H1; KMT1A; SUV39H", "gene_names_refseq": "H3-K9-HMTase 1; KMT1A; MG44; SUV39H1; SUV39H", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SUV39H1; 2.1.1.-; H3-K9-HMTase 1; Histone H3-K9 methyltransferase 1; Lysine N-methyltransferase 1A; Position-effect variegation 3-9 homolog; Su(var)3-9 homolog 1; Suppressor of variegation 3-9 homolog 1", "protein_names_refseq": "Su(var)3-9 homolog 1; histone H3-K9 methyltransferase 1; histone-lysine N-methyltransferase SUV39H1 isoform 1; histone-lysine N-methyltransferase, H3 lysine-9 specific 1; lysine N-methyltransferase 1A; position-effect variegation 3-9 homolog; suppressor of variegation 3-9 homolog 1", "tax_id": 9606, "disease": "pre-malignant neoplasm (Disease Ontology:DOID:0060071)", "pathway": " (hsa:6839); (R-HSA-3214841); (R-HSA-427359)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10202156;10671371;10848615;10949293;11242053;11484059;11959841;12101246;12123582;12130538;12453418;12540855;12670868;12711603;12789259;12917624;14536086;14690610;14765126;14992727;15107829;15145825;15235609;15469825;15964846;16103223;16118227;16199523;16292313;16409643;16449642;16519522;16652147;16682010;16688220;16805913;16818776;16858404;17021013;17081983;17500065;17544230;17707229;17924679;18004385;18172012;18485871;18669648;19218236;19413330;19651622;19664995;19690332;19808676;20068231;21131967;21196496;21406692;21779408;21832073;22099308;22939622;23186163;23376847;23481700;23695662;23897426;24728993;25418920;25576301;26154972;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29170282;29242379;29331515;29393594;29437277;29632046;30111536;30315122;30410026;30429286;30779550;30784271;30833945;31217245;31530632;31844290;32157095;32265295;32357974;32387766;32488085;32938616;33633747;33717175;33912179;33968037;34087483;35051231;35580925;36010968;38177411;38650654;40440427;41094145", "class_list": "", "function": "(Microbial infection) Plays a role in defense against mycobacterial infections. Methylates M.tuberculosis HupB on 'Lys-140', probably methylates HupB of M.bovis also. Methylation has an inhibitory effect on mycobacterial growth in the host. Macrophages expressing about 60% SUV39H1 are slightly more susceptible to M.bovis or M.tuberculosis infection. Chaetocin (an inhibitor of this enzyme) increases macrophage survival of M.tuberculosis. This protein inhibits biofilm formation by M.tuberculosis via 'Lys-140' trimethylation., [UniProtKB, PubMed]; Histone methyltransferase that specifically mediates trimethylation of 'Lys-9' of histone H3 (H3K9me3) using monomethylated H3 'Lys-9' (H3K9me1) as substrate (PubMed:10949293, PubMed:11242053, PubMed:18004385, PubMed:40440427). Also weakly methylates histone H1 (in vitro) (PubMed:10949293). H3 'Lys-9' trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones (PubMed:10949293, PubMed:11242053, PubMed:18004385). Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions (By similarity). H3 'Lys-9' trimethylation is also required to direct DNA methylation at pericentric repeats (PubMed:41094145). SUV39H1 is targeted to histone H3 via its interaction with RB1 and is involved in many processes, such as repression of MYOD1-stimulated differentiation, regulation of the control switch for exiting the cell cycle and entering differentiation, repression by the PML-RARA fusion protein, BMP-induced repression, repression of switch recombination to IgA and regulation of telomere length (PubMed:11484059, PubMed:14765126, PubMed:16449642, PubMed:16818776, PubMed:16858404, PubMed:30111536). Involved in the maintenance of H3K9me3 mark following DNA replication, when histone marks are diluted: HP1 recognizes the preexisting H3K9me3 mark and serves as a platform to recruit SUV39H1 to modify the adjacent newly incorporated histones (PubMed:10949293, PubMed:11242053, PubMed:40440427). Component of the eNoSC (energy-dependent nucleolar silencing) complex, a complex that mediates silencing of rDNA in response to intracellular energy status and acts by recruiting histone-modifying enzymes (PubMed:18485871). The eNoSC complex is able to sense the energy status of cell: upon glucose starvation, elevation of NAD(+)/NADP(+) ratio activates SIRT1, leading to histone H3 deacetylation followed by dimethylation of H3 at 'Lys-9' (H3K9me2) by SUV39H1 and the formation of silent chromatin in the rDNA locus (PubMed:18485871). Recruited by the large PER complex to the E-box elements of the circadian target genes such as PER2 itself or PER1, contributes to the conversion of local chromatin to a heterochromatin-like repressive state through H3 'Lys-9' trimethylation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Inhibition of SUV39H1 reduces tumor angiogenesis via Notch1 in oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The Wnt-pathway corepressor TLE3 interacts with the histone methyltransferase KMT1A to inhibit differentiation in Rhabdomyosarcoma., [RefSeq, PubMed]; This gene encodes an evolutionarily-conserved protein containing an N-terminal chromodomain and a C-terminal SET domain. The encoded protein is a histone methyltransferase that trimethylates lysine 9 of histone H3, which results in transcriptional gene silencing. Loss of function of this gene disrupts heterochromatin formation and may cause chromosome instability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6E8;B4DST0;Q53G60;Q6FHK6", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.366", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.366", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region binding;GO:0042054 histone methyltransferase activity", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005886 plasma membrane", "go_biological_process": "GO:0031508 pericentric heterochromatin formation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "O43463-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD36-1", "uniprot_id": [ { "id": "B2L10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD36", "type": "external" } ], "mass": 23204.0, "length": 204, "protein_name": "Bcl-2-like protein 10", "gene_name": "BCL2L10", "organism": "Human", "refseq_name": "bcl-2-like protein 10 isoform 1", "refseq_ac": [ { "id": "NP_001293097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293097", "type": "external" } ], "gene_names_uniprotkb": "BCL2L10; BCL-B; BCLB; BOO; DIVA", "gene_names_refseq": "BCL-B; BCL2L10; Boo; Diva; bcl2-L-10", "protein_names_uniprotkb": "Bcl-2-like protein 10; Anti-apoptotic protein Boo; Anti-apoptotic protein NrH; Apoptosis regulator Bcl-B; Bcl2-L-10", "protein_names_refseq": "BCL2-like 10 (apoptosis facilitator); anti-apoptotic protein Boo; anti-apoptotic protein NrH; apoptosis regulator Bcl-B; bcl-2-like protein 10 isoform 1; bcl-2-like protein 10; death inducer binding to vBcl-2 and Apaf-1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); breast carcinoma (Disease Ontology:DOID:3459); stomach carcinoma (Disease Ontology:DOID:5517); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:10017)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;11278245;11593390;11689480;17532299;19255499;21705382;22233804;22498477;23235460;23481700;23563182;24047476;27995898;28832583;28855257;31217245;31844290;33649794;34245648;34932366;37391438;37899453", "class_list": "", "function": "Bcl-B: an 'unknown' protein of the Bcl-2 family. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Bcl2l10 induces metabolic alterations in ovarian cancer cells by regulating the TCA cycle enzymes SDHD and IDH1., [RefSeq, PubMed]; Nrh L11R single nucleotide polymorphism, a new prediction biomarker in breast cancer, impacts endoplasmic reticulum-dependent Ca[2+] traffic and response to neoadjuvant chemotherapy. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes cell survival by suppressing apoptosis induced by BAX but not BAK (PubMed:11278245, PubMed:11689480). Increases binding of AHCYL1/IRBIT to ITPR1 (PubMed:27995898). Reduces ITPR1-mediated calcium release from the endoplasmic reticulum cooperatively with AHCYL1/IRBIT under normal cellular conditions (PubMed:27995898). Under apoptotic stress conditions, dissociates from ITPR1 and is displaced from mitochondria-associated endoplasmic reticulum membranes, leading to increased Ca(2+) transfer to mitochondria which promotes apoptosis (PubMed:27995898). Required for the correct formation of the microtubule organizing center during oocyte cell division, potentially via regulation of protein abundance and localization of other microtubule organizing center components such as AURKA and TPX2 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Promotes cell survival by suppressing apoptosis induced by BAX but not BAK. Increases binding of AHCYL1/IRBIT to ITPR1. Reduces ITPR1-mediated calcium release from the endoplasmic reticulum cooperatively with AHCYL1/IRBIT under normal cellular conditions. Under apoptotic stress conditions, dissociates from ITPR1 and is displaced from mitochondria-associated endoplasmic reticulum membranes, leading to increased Ca(2+) transfer to mitochondria which promotes apoptosis. Required for the correct formation of the microtubule organizing center during oocyte cell division, potentially via regulation of protein abundance and localization of other microtubule organizing center components such as AURKA and TPX2., [UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3SX80;Q52LQ9;Q8TCS9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0015267 channel activity;GO:0089720 caspase binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9HD36-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20020-3", "uniprot_id": [ { "id": "AT2B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P20020", "type": "external" } ], "mass": 134685.0, "length": 1220, "protein_name": "Plasma membrane calcium-transporting ATPase 1", "gene_name": "ATP2B1", "organism": "Human", "refseq_name": "plasma membrane calcium-transporting ATPase 1 isoform 1a", "refseq_ac": [ { "id": "NP_001001323", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001323", "type": "external" } ], "gene_names_uniprotkb": "ATP2B1; PMCA1", "gene_names_refseq": "ATP2B1; MRD66; PMCA1kb; PMCA1", "protein_names_uniprotkb": "Plasma membrane calcium-transporting ATPase 1; 7.2.2.10; PMCA1; Plasma membrane calcium ATPase isoform 1; Plasma membrane calcium pump isoform 1", "protein_names_refseq": "ATPase, Ca++ transporting, plasma membrane 1; plasma membrane calcium pump; plasma membrane calcium-transporting ATPase 1 isoform 1a; plasma membrane calcium-transporting ATPase 1", "tax_id": 9606, "disease": "Hailey-Hailey disease (Disease Ontology:DOID:0050429); autosomal dominant intellectual developmental disorder 66 (Disease Ontology:DOID:0061039); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); gestational diabetes (Disease Ontology:DOID:11714); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:490); (R-HSA-418359); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9662360)", "pathway_count": 5, "publication_count": 148, "publication_id_list": "10.1101/2023.09.13.557529;10025409;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11163272;11904675;12119109;12406570;12763866;12832055;12953268;1332771;1374913;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16182249;1656976;16700898;16754674;1693919;17081983;17224452;17322306;17357072;17486119;18029012;1827443;18578522;18669648;18723824;18767875;18995841;19278978;19345671;19651622;19664994;19751721;19878721;20068231;20166139;20298697;20388710;21108950;21400627;21406692;2160952;22084111;22186024;22210847;2226863;22427649;22707725;22972900;23186163;23196729;23362265;23481700;23549614;23610579;24275569;2430951;24392018;2477373;2528729;2548572;2559024;25645385;25994790;26421717;27067231;27452731;27862975;2838329;2844759;28514659;28645727;28649982;28832583;28834231;29104511;29242379;29314611;29393594;2953725;29632711;30190470;30833945;31154438;31217245;31844290;31998317;32157095;32350084;32357974;32387766;32897882;32938616;32983136;33043033;33298915;33592498;33968037;34171305;34185709;34357683;34932366;35051231;35154160;35358416;35561310;36215666;36241641;36916084;37211801;37938771;38430457;39302247;5961668;6328127;6832622;7626145;7694502;7702581;7929371;8021246;8045293;8245032;8298639;8386431;8396145;8490646;8490659;8798450;8918259;9020386;9147644;9307043;9346285", "class_list": "", "function": "ATP2B1 gene polymorphisms associated with resistant hypertension in the Japanese population., [RefSeq, PubMed]; ATP2B1-AS1 exacerbates sepsis-induced cell apoptosis and inflammation by regulating miR-23a-3p/TLR4 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Association between polymorphism and haplotype of ATP2B1 gene and skeletal fluorosis in Han population., [RefSeq, PubMed]; Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis (PubMed:35358416). Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction. Positively regulates bone mineralization through absorption of calcium from the intestine. Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (By similarity). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (PubMed:29104511). May play a role in synaptic transmission by modulating calcium and proton dynamics at the synaptic vesicles., [UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q12992;Q12993;Q13819;Q13820;Q13821;Q16504;Q93082", "ec_number_list": [ { "id": "7.2.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0005388 P-type calcium transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:1900076 regulation of cellular response to insulin stimulus;GO:0003056 regulation of vascular associated smooth muscle contraction;GO:0008217 regulation of blood pressure;GO:0034220 monoatomic ion transmembrane transport;GO:0051480 regulation of cytosolic calcium ion concentration", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "P20020-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23634-1", "uniprot_id": [ { "id": "AT2B4_HUMAN", "url": "https://www.uniprot.org/uniprot/P23634", "type": "external" } ], "mass": 137920.0, "length": 1241, "protein_name": "Plasma membrane calcium-transporting ATPase 4", "gene_name": "ATP2B4", "organism": "Human", "refseq_name": "plasma membrane calcium-transporting ATPase 4 isoform 4a", "refseq_ac": [ { "id": "NP_001001396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001396", "type": "external" } ], "gene_names_uniprotkb": "ATP2B4; ATP2B2; MXRA1", "gene_names_refseq": "ATP2B2; ATP2B4; MXRA1; PMCA4b; PMCA4x; PMCA4", "protein_names_uniprotkb": "Plasma membrane calcium-transporting ATPase 4; 7.2.2.10; Matrix-remodeling-associated protein 1; PMCA4; Plasma membrane calcium ATPase isoform 4; Plasma membrane calcium pump isoform 4", "protein_names_refseq": "ATPase, Ca++ transporting, plasma membrane 4; matrix-remodeling-associated protein 1; plasma membrane calcium-transporting ATPase 4 isoform 4a; plasma membrane calcium-transporting ATPase 4; sarcolemmal calcium pump", "tax_id": 9606, "disease": "Hailey-Hailey disease (Disease Ontology:DOID:0050429); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); dystonia (Disease Ontology:DOID:543)", "pathway": " (hsa:493); (R-HSA-418359); (R-HSA-5578775); (R-HSA-936837)", "pathway_count": 4, "publication_count": 146, "publication_id_list": "10220561;10401004;10484781;10493800;10615129;10767338;10913253;11062458;11237011;11904675;12119109;12406570;12763866;12832055;12953268;1374913;15174025;15260953;1531651;15598648;15754088;15831496;15919184;15925480;16182249;1656976;16700898;16754674;1693919;17224452;17357072;17486119;18723824;18995841;19278978;19345671;19751721;19878721;20112406;20298697;20388710;21108950;2137451;2160952;22084111;22186024;22210847;2226863;22427649;22707725;22972900;23186163;23196729;23362265;23481700;23549614;23610579;24275569;2430951;24392018;2477373;25576301;2559024;25645385;25994790;26421717;26758079;26992070;27067231;27452731;27600516;27846572;27862975;2838329;2844759;28510447;28645727;28832583;28904123;29242379;29351928;2953725;29557506;29632711;2963820;2966397;29786170;30429286;30524438;30573663;30833945;31092671;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32938616;32983136;33141586;33465208;33592498;33912179;33968037;33981976;34171305;34357683;34509645;35051231;35251023;35580925;36010968;36215666;36284347;36604655;36849945;37882330;37938771;38597132;38665916;40307207;5961668;6328127;6832622;7626145;7702581;7929371;8021246;8045293;8245032;8298639;8490646;8490659;8530416;8700162;8798450;8918259;9147644;9307043;9346285;9867875", "class_list": "", "function": "ATP2B4 is an essential gene for epidermal growth factor-induced macropinocytosis in A431 cells., [RefSeq, PubMed]; ATP2B4 regulatory genetic variants are associated with mild malaria. Publication Status: Online-Only, [RefSeq, PubMed]; Calcium/calmodulin-regulated and magnesium-dependent enzyme that catalyzes the hydrolysis of ATP coupled with the transport of calcium out of the cell (PubMed:8530416). By regulating sperm cell calcium homeostasis, may play a role in sperm motility (By similarity)., [UniProtKB, PubMed, UniProtKB]; Genetic variations in human ATP2B4 gene alter Plasmodium falciparum in vitro growth in RBCs from Gambian adults. Erratum:[Malar J. 2023 May 25;22(1):164. doi: 10.1186/s12936-023-04565-8. PMID: 37231516] Publication Status: Online-Only, [RefSeq, PubMed]; Mammalian cysteine-rich secretory proteins interact with plasma membrane Ca[2+] exporter PMCA4b., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1APW5;B1APW6;Q13450;Q13452;Q13455;Q16817;Q7Z3S1", "ec_number_list": [ { "id": "7.2.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0003407 neural retina development;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0010629 negative regulation of gene expression;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "P23634-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53G59-1", "uniprot_id": [ { "id": "KLH12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53G59", "type": "external" } ], "mass": 63277.0, "length": 568, "protein_name": "Kelch-like protein 12", "gene_name": "KLHL12", "organism": "Human", "refseq_name": "kelch-like protein 12 isoform 1", "refseq_ac": [ { "id": "NP_001289980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289980", "type": "external" } ], "gene_names_uniprotkb": "KLHL12; C3IP1", "gene_names_refseq": "C3IP1; DKIR; KLHL12", "protein_names_uniprotkb": "Kelch-like protein 12; CUL3-interacting protein 1; DKIR homolog; hDKIR", "protein_names_refseq": "CUL3-interacting protein 1; DKIR homolog; kelch-like protein 12 isoform 1; kelch-like protein C3IP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:59349); (R-HSA-4641258)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "11237011;11970895;14684739;15383316;16108817;16446366;16547521;18303015;20100572;21993680;22358839;23349464;23481700;24714562;24715725;25418920;25645385;26154972;26375851;26758079;26811146;26929215;26992070;27397612;27543614;27565346;27600516;27716508;27846572;27920218;28063628;28228285;28446606;28832583;28834231;29242379;29493099;29508533;29557506;29632046;29786170;30190310;30315122;30429286;30524438;30833945;31092671;31154438;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "KLHL12 specifically interacts with the D4 polymorphism, thereby building up a Cul3-E3 ligase complex with substrate specificity toward the D4 receptor, [RefSeq, PubMed]; Molecular cloning and characterization of a novel gene, encoded a human kelch protein containing 568 amino acid residues, termed hDKIR., [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a negative regulator of Wnt signaling pathway and ER-Golgi transport (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is involved in ER-Golgi transport by regulating the size of COPII coats, thereby playing a key role in collagen export, which is required for embryonic stem (ES) cells division: BCR(KLHL12) acts by mediating monoubiquitination of SEC31 (SEC31A or SEC31B) (PubMed:22358839, PubMed:27565346). The BCR(KLHL12) complex is also involved in neural crest specification: in response to cytosolic calcium increase, interacts with the heterodimer formed with PEF1 and PDCD6/ALG-2, leading to bridge together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export (PubMed:27716508). As part of the BCR(KLHL12) complex, also acts as a negative regulator of the Wnt signaling pathway by mediating ubiquitination and subsequent proteolysis of DVL3 (PubMed:16547521). The BCR(KLHL12) complex also mediates polyubiquitination of DRD4 and PEF1, without leading to degradation of these proteins (PubMed:18303015, PubMed:20100572, PubMed:27716508)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEN8;B7Z7B8;Q9HBX5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0031463 Cul3-RING ubiquitin ligase complex;GO:0030127 COPII vesicle coat", "go_biological_process": "GO:0014029 neural crest formation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0014032 neural crest cell development;GO:0048208 COPII vesicle coating", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q53G59-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RD7-1", "uniprot_id": [ { "id": "SYT16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RD7", "type": "external" } ], "mass": 72274.0, "length": 645, "protein_name": "Synaptotagmin-16", "gene_name": "SYT16", "organism": "Human", "refseq_name": "synaptotagmin-16 isoform 4", "refseq_ac": [ { "id": "NP_001354585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001354585", "type": "external" } ], "gene_names_uniprotkb": "SYT16; STREP14; SYT14L; SYT14R", "gene_names_refseq": "CHR14SYT; SYT14L; SYT16; Strep14; syt14r", "protein_names_uniprotkb": "Synaptotagmin-16; Chr14Syt; Synaptotagmin 14-like protein; Synaptotagmin XIV-related protein", "protein_names_refseq": "chr14 synaptotagmin; synaptotagmin 14-like protein; synaptotagmin XIV-related protein; synaptotagmin XVI; synaptotagmin-16 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:83851)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;11543631;12801916;15238157;16946482;18212344;29557506;32289666;33633747;35051231;38253038", "class_list": "", "function": "Human synaptotagmin tandem C2 domains C2A-C2B have been expressed as a glutathione-S-transferase fusion protein in Escherichia coli, purified, and crystallized and the preliminary X-ray analysis reported., [RefSeq, PubMed]; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent., [UniProtKB]; SYT16 is a prognostic biomarker and correlated with immune infiltrates in glioma: A study based on TCGA data., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DZH2;B7ZL60;C9J8I3;Q707N2;Q7Z441;Q8IUU0;Q9BQR8", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q17RD7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IT1-1", "uniprot_id": [ { "id": "ZN496_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IT1", "type": "external" } ], "mass": 66908.0, "length": 587, "protein_name": "Zinc finger protein 496", "gene_name": "ZNF496", "organism": "Human", "refseq_name": "zinc finger protein 496 isoform 1", "refseq_ac": [ { "id": "NP_116141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116141", "type": "external" } ], "gene_names_uniprotkb": "ZNF496; ZKSCAN17", "gene_names_refseq": "NIZP1; ZFP496; ZKSCAN17; ZNF496; ZSCAN49", "protein_names_uniprotkb": "Zinc finger protein 496; Zinc finger protein with KRAB and SCAN domains 17", "protein_names_refseq": "NSD1 (nuclear receptor binding SET-domain containing 1)-interacting zinc finger protein 1; zinc finger protein 496 isoform 1; zinc finger protein with KRAB and SCAN domains 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:84838); (R-HSA-212436)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;18220336;19690332;20176155;2163759;23481700;24715725;25576301;25880248;26154972;26992070;27862975;28832583;29242379;29437277;30379171;30429286;31844290;31848261;32157095;32357974;32502341;32938616;32983136;33141586;33298915;33912179;33936100;33968037;34171305;34211107;35051231;36241641;8183939;8769649;9637681;9653119", "class_list": "", "function": "DNA-binding transcription factor that can both act as an activator and a repressor., [UniProtKB]; The Nizp1 KRAB-domain was identified to possess an intrinsic transcriptional activation capacity suppressed in cis by the presence of the C2HR domain, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8TBS2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q96IT1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IN84-1", "uniprot_id": [ { "id": "MRM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IN84", "type": "external" } ], "mass": 38638.0, "length": 353, "protein_name": "rRNA methyltransferase 1, mitochondrial", "gene_name": "MRM1", "organism": "Human", "refseq_name": "rRNA methyltransferase 1, mitochondrial precursor", "refseq_ac": [ { "id": "NP_079140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079140", "type": "external" } ], "gene_names_uniprotkb": "MRM1", "gene_names_refseq": "MRM1", "protein_names_uniprotkb": "rRNA methyltransferase 1, mitochondrial; 16S rRNA (guanosine(1145)-2'-O)-methyltransferase; 16S rRNA [Gm1145] 2'-O-methyltransferase; 2.1.1.-", "protein_names_refseq": "16S rRNA (guanosine(1145)-2'-O)-methyltransferase; 16S rRNA [Gm1145] 2'-O-methyltransferase; CTB-75G16.3; mitochondrial large ribosomal RNA ribose methylase; mitochondrial rRNA methyltransferase 1 homolog; rRNA methyltransferase 1, mitochondrial precursor; rRNA methyltransferase 1, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:79922); (R-HSA-6793080)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "11237011;11809803;12496758;15110318;19356719;19417006;20877624;21531335;22341444;22424782;22949673;23022348;23303773;23481700;23804760;24036117;24715725;25009282;25074936;25645385;26154972;26464487;27184847;27600516;27667664;27846572;27920218;27974379;28082677;28228285;28510447;29557506;29632711;30315122;30418433;30524438;31844290;32357974;32387766;32938616;33141586;33298915;33936100;33968037;34211107;34357683;34405274;34509645;34561969;35177605;35494241;36215666", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8E2;Q96GK2;Q9H664", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0016435 rRNA (guanine) methyltransferase activity;GO:0003723 RNA binding;GO:0070039 rRNA (guanosine-2'-O-)-methyltransferase activity;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0000154 rRNA modification;GO:0006364 rRNA processing;GO:0000451 rRNA 2'-O-methylation;GO:0031167 rRNA methylation", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q6IN84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQG6-1", "uniprot_id": [ { "id": "MID51_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQG6", "type": "external" } ], "mass": 51293.0, "length": 463, "protein_name": "Mitochondrial dynamics protein MIEF1", "gene_name": "MIEF1", "organism": "Human", "refseq_name": "mitochondrial dynamics protein MIEF1 isoform 2", "refseq_ac": [ { "id": "NP_001291493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291493", "type": "external" } ], "gene_names_uniprotkb": "MIEF1; AltMIEF1; AltMiD51; MID51; SMCR7L", "gene_names_refseq": "D3A; HSU79252; MID51; MIEF1; OPA14; SMCR7L; dJ1104E15.3", "protein_names_uniprotkb": "Mitochondrial dynamics protein MIEF1; Mitochondrial dynamics protein of 51 kDa; Mitochondrial elongation factor 1; SMCR7-like protein; Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like", "protein_names_refseq": "DANGER family member 3A; SMCR7-like protein; Smith-Magenis syndrome chromosome region, candidate 7-like; mitochondrial dynamics protein MID51; mitochondrial dynamics protein MIEF1 isoform 2; mitochondrial dynamics protein MIEF1; mitochondrial dynamics protein of 51 kDa", "tax_id": 9606, "disease": "optic atrophy (Disease Ontology:DOID:5723); optic atrophy 14 (MONDO:MONDO:0957824)", "pathway": " (hsa:54471); (R-HSA-9937383)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "11237011;18477386;18669648;18691976;19413330;19651622;19664995;20186120;21508961;21701560;22424782;23186163;23283981;23530241;23921378;23950983;24515348;24715725;25576301;25621764;25645385;26154972;26992070;27029019;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28892042;28904123;29083303;29242379;29493099;29557506;29632711;29786170;30215512;30315122;30524438;31666358;31844290;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33243891;33298915;33392160;33632269;33691108;33878294;33912179;33936100;33968037;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35177605;35580925;36010968;36044022;36241641;36284347;37149986", "class_list": "", "function": "Assembly factor involved in the biogenesis of the mitochondrial-specific ribosomes (mitoribosomes) (PubMed:28892042, PubMed:30215512, PubMed:31666358). Specifically associates with intermediates of the mitochondrial ribosome large subunit (mt-LSU) and is required for proper ribosome assembly, possibly preventing premature association of the large and small ribosomal subunits (PubMed:28892042, PubMed:30215512, PubMed:31666358). Thereby, indirectly regulates mitochondrial translation (PubMed:28892042, PubMed:30215512, PubMed:31666358). It is also required for complete assembly of the mitochondrial respiratory chain complex I (PubMed:31666358). May also function in DNM1L-mediated mitochondrial fission (PubMed:29083303)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated MIEF1 levels induce mitochondrial fusion; depletion of MIEF1 causes mitochondrial fragmentation; MIEF1 interacts with and recruits Drp1 to mitochondria but inhibits Drp1 activity, executing a negative effect on mitochondrial fission Publication Status: Online-Only, [RefSeq, PubMed]; Ischemia/reperfusion-induced MiD51 upregulation recruits Drp1 to mitochondria and contributes to myocardial injury., [RefSeq, PubMed]; MiD49/51 are new mediators of mitochondrial division affecting Drp1 action at mitochondria. GeneRIF: Mitochondrial outer membrane protein that recruits fission mediator Drp1 to the mitochondrial surface., [RefSeq, PubMed]; Mid51/Fis1 mitochondrial oligomerization complex drives lysosomal untethering and network dynamics., [RefSeq, PubMed]; Mitochondrial outer membrane protein which regulates mitochondrial fission/fusion dynamics (PubMed:21701560, PubMed:23921378, PubMed:33632269). Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mitochondrial outer membrane protein which regulates mitochondrial fission/fusion dynamics. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L., [UniProtKB, UniProtKB]; We find that either MiD49 or MiD51 can mediate Drp1 recruitment and mitochondrial fission in the absence of Fis1 and Mff, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q52MA5;Q7L890;Q9BUI3", "ec_number_list": [], "go_molecular_function": "GO:0140978 mitochondrial large ribosomal subunit binding;GO:0000166 nucleotide binding;GO:0042802 identical protein binding;GO:0043531 ADP binding;GO:0019003 GDP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0000266 mitochondrial fission;GO:0070131 positive regulation of mitochondrial translation;GO:1902775 mitochondrial large ribosomal subunit assembly;GO:0007005 mitochondrion organization", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9NQG6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07919-1", "uniprot_id": [ { "id": "QCR6_HUMAN", "url": "https://www.uniprot.org/uniprot/P07919", "type": "external" } ], "mass": 10739.0, "length": 91, "protein_name": "Cytochrome b-c1 complex subunit 6, mitochondrial", "gene_name": "UQCRH", "organism": "Human", "refseq_name": "cytochrome b-c1 complex subunit 6, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_005995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005995", "type": "external" } ], "gene_names_uniprotkb": "UQCRH", "gene_names_refseq": "MC3DN11; QCR6; UQCR8; UQCRH", "protein_names_uniprotkb": "Cytochrome b-c1 complex subunit 6, mitochondrial; Complex III subunit 6; Complex III subunit VIII; Cytochrome c1 non-heme 11 kDa protein; Mitochondrial hinge protein; Ubiquinol-cytochrome c reductase complex 11 kDa protein", "protein_names_refseq": "complex III subunit 6; cytochrome b-c1 complex subunit 6, mitochondrial isoform 1 precursor; cytochrome b-c1 complex subunit 6, mitochondrial; cytochrome c1 non-heme 11 kDa protein; mitochondrial hinge protein; ubiquinol-cytochrome c reductase complex 11 kDa protein; ubiquinol-cytochrome c reductase, complex III subunit VIII", "tax_id": 9606, "disease": "mitochondrial complex III deficiency (Disease Ontology:DOID:0111139); mitochondrial complex III deficiency, nuclear type 11 (MONDO:MONDO:0859321)", "pathway": " (hsa:7388); (R-HSA-611105); (R-HSA-9865881)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10327278;10501844;11237011;11695836;12231006;12837546;12881716;1327877;14741580;15250827;16230336;17033964;17081983;186667;18669648;21278747;23150584;23168492;23270816;23564345;23747254;239860;24385928;25008109;25564869;25605331;26154972;26375851;26992070;27726376;2826252;28332314;28380382;28467828;28489076;28673544;28832583;28834231;28844695;29242379;29243944;30192525;30315122;31217245;31222486;32157095;32161166;32350084;32929120;32938616;33392160;33912179;33936100;33981976;34133843;34171305;34357683;34561969;34750991;34969438;35154160;35318648;36241641;38181234;4288886;7684318;9878551", "class_list": "", "function": "Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis., [RefSeq, PubMed]; Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes., [RefSeq, PubMed]; Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c., [UniProtKB, PubMed]; Genome-wide analysis of DNA methylation identifies the apoptosis-related gene UQCRH as a tumor suppressor in renal cancer., [RefSeq, PubMed]; Results show that UQCRH is overexpressed in hepatocellular carcinoma., [RefSeq, PubMed]; These data provide preliminary evidence of the inactivation of UQCRH gene in cancer either by structural rearrangements or epigenetic mechanisms., [RefSeq, PubMed]; UQCRH downregulation promotes Warburg effect in renal cell carcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4V9;D3DQ18;Q5TDF6;Q6LDB8;Q9BQ91", "ec_number_list": [], "go_molecular_function": "GO:0008121 quinol-cytochrome-c reductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045275 respiratory chain complex III;GO:0098803 respiratory chain complex", "go_biological_process": "GO:0006119 oxidative phosphorylation;GO:0009060 aerobic respiration;GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P07919-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L3V2-1", "uniprot_id": [ { "id": "BOP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L3V2", "type": "external" } ], "mass": 39299.0, "length": 364, "protein_name": "Protein Bop", "gene_name": "RTL10", "organism": "Human", "refseq_name": "protein Bop", "refseq_ac": [ { "id": "NP_078903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078903", "type": "external" } ], "gene_names_uniprotkb": "RTL10; BOP; C22orf29", "gene_names_refseq": "BOP; C22orf29; RTL10", "protein_names_uniprotkb": "Protein Bop; BH3-only protein; Retrotransposon Gag-like protein 10", "protein_names_refseq": "BH3-only protein; protein Bop; retrotransposon Gag-like protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:79680)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;18477386;22984286;23055042;23481700;24673301;25404273;25418920;25645385;26154972;27893789;29242379;29331515;29393594;30185825;30779550;31844290;32157095;32350084;32357974;32387766;32502341;32938616;33298915;33691108;33968037;34171305;34312366;34509645;34561969;35051231;35132862;35251023;35580925;36241641;39531497", "class_list": "", "function": "BH3-only protein expression determines hepatocellular carcinoma response to sorafenib-based treatment. Publication Status: Online-Only, [RefSeq, PubMed]; Bop may be a novel BH3-only factor that can engage with the regulatory network of Bcl-2 family members to process intrinsic apoptotic signaling, [RefSeq, PubMed]; Could induce apoptosis in a BH3 domain-dependent manner. The direct interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity., [UniProtKB, PubMed]; Members of the subfamily of BH3-only proteins function as proapoptotic triggers, and mimetics of these proteins are already in clinical trials in other cancers., [RefSeq, PubMed]; Studies indicate that BH3-only protein (C22orf29 protein) plays an important role in activation and communication in apoptosis pathways. Review article, [RefSeq, PubMed]; The BH3-only proteins were required for apoptosis induced as a result of BCL-XL inhibition, this requirement was overcome when both BCL-XL and MCL-1 were inhibited, implicating distinct mechanisms by which different anti-apoptotic BCL-2 family members may regulate apoptosis in cancer., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K5E7;D3DX21;Q6MZM8;Q6N000;Q9H7A0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0051881 regulation of mitochondrial membrane potential;GO:0097345 mitochondrial outer membrane permeabilization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q7L3V2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PE7-1", "uniprot_id": [ { "id": "MCEE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PE7", "type": "external" } ], "mass": 18749.0, "length": 176, "protein_name": "Methylmalonyl-CoA epimerase, mitochondrial", "gene_name": "MCEE", "organism": "Human", "refseq_name": "methylmalonyl-CoA epimerase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_115990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115990", "type": "external" } ], "gene_names_uniprotkb": "MCEE", "gene_names_refseq": "GLOD2; MCEE; MCE; MMCE", "protein_names_uniprotkb": "Methylmalonyl-CoA epimerase, mitochondrial; 5.1.99.1; DL-methylmalonyl-CoA racemase", "protein_names_refseq": "DL-methylmalonyl-CoA racemase; glyoxalase domain containing 2; methylmalonyl CoA isomerase; methylmalonyl-CoA epimerase, mitochondrial precursor; methylmalonyl-CoA epimerase, mitochondrial", "tax_id": 9606, "disease": "methylmalonic acidemia (Disease Ontology:DOID:14749); methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (MONDO:MONDO:0009615)", "pathway": " (hsa:84693); (R-HSA-71032)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11237011;11481338;12438653;13752080;13934211;15523652;16023992;16281286;16752391;16866376;20876572;21138732;2567699;29242379;30682498;31217245;31844290;32161166;34509645;6765947", "class_list": "", "function": "Methylmalonyl-CoA epimerase involved in propionyl-CoA metabolism., [UniProtKB, PubMed]; Results indicate that methylmalonyl-CoA epimerase (MCEE)-Arg143Cys mutaaaaaaation was detectable at comparable levels to wildtype (wt) MCEE, but had slightly altered unfolding kinetics and greatly reduced activity., [RefSeq, PubMed]; The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53TP1;Q8WW63", "ec_number_list": [ { "id": "5.1.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.1", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004493 methylmalonyl-CoA epimerase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0019626 short-chain fatty acid catabolic process;GO:0046491 L-methylmalonyl-CoA metabolic process;GO:1901290 succinyl-CoA biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q96PE7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15836-1", "uniprot_id": [ { "id": "VAMP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15836", "type": "external" } ], "mass": 11309.0, "length": 100, "protein_name": "Vesicle-associated membrane protein 3", "gene_name": "VAMP3", "organism": "Human", "refseq_name": "vesicle-associated membrane protein 3", "refseq_ac": [ { "id": "NP_004772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004772", "type": "external" } ], "gene_names_uniprotkb": "VAMP3; SYB3", "gene_names_refseq": "CEB; VAMP3", "protein_names_uniprotkb": "Vesicle-associated membrane protein 3; CEB; Cellubrevin; Synaptobrevin-3; VAMP-3", "protein_names_refseq": "cellubrevin; synaptobrevin-3; vesicle-associated membrane protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9341); (R-HSA-1236974); (R-HSA-6811440); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013407); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9035034)", "pathway_count": 18, "publication_count": 701, "publication_id_list": 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"class_list": "", "function": "CCAAT enhancer binding protein delta activates vesicle associated membrane protein 3 transcription to enhance chemoresistance and extracellular PD-L1 expression in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Circ_0002984 induces proliferation, migration and inflammation response of VSMCs induced by ox-LDL through miR-326-3p/VAMP3 axis in atherosclerosis., [RefSeq, PubMed]; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network., [UniProtKB, PubMed]; Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BRV4", "ec_number_list": [], "go_molecular_function": "GO:0005484 SNAP receptor activity;GO:0017075 syntaxin-1 binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030141 secretory granule", "go_biological_process": "GO:0015031 protein transport;GO:0034446 substrate adhesion-dependent cell spreading;GO:0016192 vesicle-mediated transport;GO:0001921 positive regulation of receptor recycling;GO:0061025 membrane fusion", "synthesized_glycan_count": 0, "hit_score": 70.4, "record_id": "Q15836-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43257-1", "uniprot_id": [ { "id": "ZNHI1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43257", "type": "external" } ], "mass": 17536.0, "length": 154, "protein_name": "Zinc finger HIT domain-containing protein 1", "gene_name": "ZNHIT1", "organism": "Human", "refseq_name": "zinc finger HIT domain-containing protein 1", "refseq_ac": [ { "id": "NP_006340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340", "type": "external" } ], "gene_names_uniprotkb": "ZNHIT1; CGBP1; ZNFN4A1", "gene_names_refseq": "CG1I; ZNFN4A1; ZNHIT1; p18(Hamlet)", "protein_names_uniprotkb": "Zinc finger HIT domain-containing protein 1; Cyclin-G1-binding protein 1; Zinc finger protein subfamily 4A member 1; p18 Hamlet", "protein_names_refseq": "H_DJ0747G18.14; cyclin-G1-binding protein 1; p18 Hamlet; p18Hamlet; putative cyclin G1 interacting protein; zinc finger HIT domain-containing protein 1; zinc finger protein subfamily 4A member 1; zinc finger protein, subfamily 4A (HIT domain containing), member 1; zinc finger, HIT domain containing 1; zinc finger, HIT type 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10467)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "15647280;16959974;17380123;17700068;17892483;20473270;22645359;25576301;25645385;26992070;28063628;28561026;28832583;28904123;29242379;29393594;29493099;29632046;31530632;31844290;32161166;32350084;32387766;32938616;33298915;33633747;33691108;33936100;33981976;34171305;35175558;35251023;35978075;36010968;37178741", "class_list": "", "function": "A combined proteomics and bioinformatics analysis of ZNHIT1-interacting proteins reveals a significant enrichment in proteins associated with mitochondrial function., [RefSeq, PubMed]; Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against alpha-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells., [RefSeq, PubMed]; P18(Hamlet) is a new cell-fate regulator that links the p38 MAPK and p53 pathways and contributes to the establishment of p53-regulated stress responses., [RefSeq, PubMed]; Plays a role in chromatin remodeling by promoting the incorporation of histone variant H2AZ1/H2A.Z into the genome to regulate gene expression (PubMed:20473270, PubMed:35175558). Promotes SRCAP complex-mediated deposition of histone variant H2AZ1 to lymphoid fate regulator genes, enhancing lymphoid lineage commitment (By similarity). Recruited to the promoter of the transcriptional activator MYOG at the early stages of muscle differentiation where it mediates binding of histone H2AZ1 to chromatin and induces muscle-specific gene expression (PubMed:20473270). Maintains hematopoietic stem cell (HSC) quiescence by determining the chromatin accessibility at distal enhancers of HSC quiescence genes such as PTEN, FSTL1 and KLF4, enhancing deposition of H2AZ1 to promote their sustained transcription and restricting PI3K-AKT signaling inhibition (By similarity). Plays a role in intestinal stem cell maintenance by promoting H2AZ1 deposition at the transcription start sites of genes involved in intestinal stem cell fate determination including LGR5, TGFB1 and TGFBR2, thereby contributing to gene transcription (By similarity). Promotes phosphorylation of the H2AZ1 chaperone VPS72/YL1 which enhances the interaction between HZAZ1 and VPS72 (By similarity). Regulates the entry of male germ cells into meiosis by controlling histone H2AZ1 deposition which facilitates the expression of meiotic genes such as MEIOSIN, leading to the initiation of meiosis (By similarity). Required for postnatal heart function through its role in maintenance of cardiac Ca(2+) homeostasis by modulating the expression of Ca(2+)-regulating proteins CASQ1 and ATP2A2/SERCA2A via deposition of histone H2AZ1 at their promoters (By similarity). During embryonic heart development, required for mitochondrial maturation and oxidative metabolism by functioning through H2AZ1 deposition to activate transcription of metabolic genes and is also required to maintain the stability of the respiratory complex (By similarity). In neural cells, increases deposition of the H2AZ1 histone variant and promotes neurite growth (PubMed:35175558). Plays a role in TP53/p53-mediated apoptosis induction by stimulating the transcriptional activation of several proapoptotic p53 target genes such as PMAIP1/NOXA and BBC3/PUMA (PubMed:17380123). Mediates cell cycle arrest induced in response to gamma-irradiation by enhancing recruitment of TP53/p53 to the promoter of the cell cycle inhibitor CDKN1A, leading to its transcriptional activation (PubMed:17700068). Recruited to the promoter of cyclin-dependent kinase CDK6 and inhibits its transcription, possibly by decreasing the acetylation level of histone H4, leading to cell cycle arrest at the G1 phase (By similarity). Plays a role in lens fiber cell differentiation by regulating the expression of cell cycle regulator CDKN1A/p21Cip1 (By similarity). Binds to transcriptional repressor NR1D2 and relieves it of its inhibitory effect on the transcription of apolipoprotein APOC3 without affecting its DNA-binding activity (PubMed:17892483)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Znhit1 and HIF-2alpha are correlated with cancer stem cell markers in breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IB12", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042826 histone deacetylase binding;GO:0042393 histone binding;GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000812 Swr1 complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006355 regulation of DNA-templated transcription;GO:0045815 transcription initiation-coupled chromatin remodeling;GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "O43257-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16611-1", "uniprot_id": [ { "id": "BAK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16611", "type": "external" } ], "mass": 23409.0, "length": 211, "protein_name": "Bcl-2 homologous antagonist/killer", "gene_name": "BAK1", "organism": "Human", "refseq_name": "bcl-2 homologous antagonist/killer", "refseq_ac": [ { "id": "NP_001179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001179", "type": "external" } ], "gene_names_uniprotkb": "BAK1; BAK; BCL2L7; CDN1", "gene_names_refseq": "BAK-LIKE; BAK1; BAK; BCL2L7; CDN1", "protein_names_uniprotkb": "Bcl-2 homologous antagonist/killer; Apoptosis regulator BAK; Bcl-2-like protein 7; Bcl2-L-7", "protein_names_refseq": "BCL2-like 7 protein; apoptosis regulator BAK; bcl-2 homologous antagonist/killer; bcl-2-like protein 7; bcl2-L-7; pro-apoptotic protein BAK", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); leiomyoma (Disease Ontology:DOID:127); ataxia telangiectasia (Disease Ontology:DOID:12704); cervix carcinoma (Disease Ontology:DOID:2893); intermittent claudication (Disease Ontology:DOID:3669); renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:578); (R-HSA-111452); (R-HSA-111457); (R-HSA-111458); (R-HSA-111461); (R-HSA-111463); (R-HSA-111469); (R-HSA-5620971)", "pathway_count": 8, "publication_count": 114, "publication_id_list": "10233985;10929711;10950869;10972280;11084335;11140638;11230124;11242052;11257230;11257231;11734640;12660240;12721291;12941691;14960576;15650747;16439990;16509771;16897187;17157251;17386268;17724022;18521960;18619610;19859801;20959805;21695558;21949740;23055042;23189150;23303126;23521171;23782464;24715725;25296756;25313070;25645385;26154972;26375003;26508369;26811146;26992070;27281216;27383986;27418190;27697150;27846572;28045099;28192157;28218747;28228285;28392147;28459430;28832583;28904123;29177860;29242379;29331515;29393594;29437277;29531808;29539421;29557506;29632711;29786170;29789417;29891674;29898893;29990470;30143555;30315122;30410026;30976076;31092671;31113851;31154438;31530632;31844290;32109412;32157095;32161166;32188940;32357974;32367036;32387766;32820063;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;34185709;34357683;34509645;35051231;35318648;35580925;36284347;38088212;38503846;38830851;39213434;7715729;7715730;7715731;8521816;9020082;9230442;9267021;9390557", "class_list": "", "function": "Endogenous BAX and BAK form mosaic rings of variable size and composition on apoptotic mitochondria., [RefSeq, PubMed]; Lipid unsaturation promotes BAX and BAK pore activity during apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the mitochondrial apoptotic process. Upon arrival of cell death signals, promotes mitochondrial outer membrane (MOM) permeabilization by oligomerizing to form pores within the MOM. This releases apoptogenic factors into the cytosol, including cytochrome c, promoting the activation of caspase 9 which in turn processes and activates the effector caspases., [UniProtKB, PubMed, PubMed]; RVFV virulence factor NSs triggers the mitochondrial MCL-1-BAK axis to activate pathogenic NLRP3 pyroptosis. Erratum:[PLoS Pathog. 2025 Apr 24;21(4):e1013113. doi: 10.1371/journal.ppat.1013113. PMID: 40273018] Publication Status: Online-Only, [RefSeq, PubMed]; Sequence differences between BAX and BAK core domains manifest as differences in their interactions with lipids., [RefSeq, PubMed]; The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C0H5Y7;Q6I9T6;Q92533", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0046982 protein heterodimerization activity;GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0046930 pore complex", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0010629 negative regulation of gene expression;GO:0043065 positive regulation of apoptotic process;GO:0045471 response to ethanol;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q16611-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNA0-1", "uniprot_id": [ { "id": "ATS5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNA0", "type": "external" } ], "mass": 101718.0, "length": 930, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 5", "gene_name": "ADAMTS5", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 5 preproprotein", "refseq_ac": [ { "id": "NP_008969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008969", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS5; ADAMTS11; ADMP2", "gene_names_refseq": "ADAM-TS 11; ADAM-TS 5; ADAM-TS5; ADAMTS-11; ADAMTS-5; ADAMTS11; ADAMTS5; ADMP-2", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 5; 3.4.24.-; A disintegrin and metalloproteinase with thrombospondin motifs 11; ADAM-TS 11; ADAM-TS 5; ADAM-TS5; ADAMTS-11; ADAMTS-5; ADMP-2; Aggrecanase-2", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 5 preproprotein; a disintegrin and metalloproteinase with thrombospondin motifs 11; a disintegrin and metalloproteinase with thrombospondin motifs 5; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2); aggrecanase-2", "tax_id": 9606, "disease": "mucopolysaccharidosis VI (Disease Ontology:DOID:12800); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398); degenerative disc disease (Disease Ontology:DOID:90); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:11096); (R-HSA-1474228); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10.1038/emboj.2013.79;10229672;10386589;10438522;10464288;10706100;10809722;10986281;11067851;11237011;11375993;11872628;12727852;12843408;14973287;15234972;15591058;15958533;16133547;16464858;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18042673;18434311;18658137;18720094;18992360;19010778;19571574;19657146;19671700;19714641;19796186;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;22588082;22706990;23035980;23584533;23845380;23889335;25544610;29557506;30237853;30459171;31848261;32350084;32488085;32897882;33109704;33141586;33592498;35051231;35236644;35251023;35317099;37340703;38536197;38940327;39192347;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107", "class_list": "glycogene", "function": "ADAMTS5 Promotes Permeability of the Blood-Brain Barrier during Treponema pallidum Subspecies pallidum Invading the Central Nervous System., [RefSeq, PubMed]; Association of ADAMTS-5 gene polymorphisms with the susceptibility to knee osteoarthritis in a Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; Differential DNA methylation analysis of SUMF2, ADAMTS5, and PXDN provides novel insights into colorectal cancer prognosis prediction in Taiwan., [RefSeq, PubMed]; Metalloproteinase that plays an important role in connective tissue organization, development, inflammation and cell migration. Extracellular matrix (ECM) degrading enzyme that show proteolytic activity toward the hyalectan group of chondroitin sulfate proteoglycans (CSPGs) including ACAN, VCAN, BCAN and NCAN (PubMed:16133547, PubMed:18992360). Cleavage within the hyalectans occurs at Glu-Xaa recognition motifs. Plays a role in embryonic development, including limb and cardiac morphogenesis, and skeletal muscle development through its VCAN remodeling properties. Cleaves VCAN in the pericellular matrix surrounding myoblasts, facilitating myoblast contact and fusion which is required for skeletal muscle development and regeneration (By similarity). Participates in development of brown adipose tissue and browning of white adipose tissue (By similarity). Plays an important role for T-lymphocyte migration from draining lymph nodes following viral infection., [UniProtKB, UniProtKB, PubMed, PubMed]; MicroRNA-148a targets ADAMTS5 to inhibit proliferation of endometriosis cells., [RefSeq, PubMed]; SP1-mediated ADAMTS5 transcription promotes IL-1beta-induced chondrocyte injury via Wnt/beta-catenin pathway in osteoarthritis., [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 2, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 2, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 2, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 2, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1442, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 6, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "Q52LV4;Q9UKP2", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:0007520 myoblast fusion;GO:0003203 endocardial cushion morphogenesis", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9UNA0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1110000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95393-1", "uniprot_id": [ { "id": "BMP10_HUMAN", "url": "https://www.uniprot.org/uniprot/O95393", "type": "external" } ], "mass": 48047.0, "length": 424, "protein_name": "Bone morphogenetic protein 10", "gene_name": "BMP10", "organism": "Human", "refseq_name": "bone morphogenetic protein 10 preproprotein", "refseq_ac": [ { "id": "NP_055297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055297", "type": "external" } ], "gene_names_uniprotkb": "BMP10", "gene_names_refseq": "BMP10", "protein_names_uniprotkb": "Bone morphogenetic protein 10; BMP-10", "protein_names_refseq": "bone morphogenetic protein 10 preproprotein", "tax_id": 9606, "disease": "hereditary hemorrhagic telangiectasia (Disease Ontology:DOID:1270); tetralogy of Fallot (Disease Ontology:DOID:6419)", "pathway": " (hsa:27302); (R-HSA-201451); (R-HSA-2129379)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10025398;10072785;10424889;10458166;10544250;10587654;10646116;10712517;10930463;11016919;11121043;11158580;11278251;11509558;11571290;11714695;11779505;11970960;12151385;12358597;12415008;12429738;12519765;12592392;12821673;12857866;1400330;14701737;16049014;16672363;17029022;17068149;1708799;17311849;17324935;17356069;17921333;18339631;20608934;21646718;21737454;29393594;31611695;32350084;34240497;35251023;35504921;36380569;36926939;38322548;38529655;7500359;7534784;7644468;7791754;8119126;8653785;8893010;9136927;9436979;9725916", "class_list": "", "function": "BMP9 and BMP10: Two close vascular quiescence partners that stand out. Review article, [RefSeq, PubMed]; Bone Morphogenetic Protein 10-A Novel Biomarker to Predict Adverse Outcomes in Patients With Atrial Fibrillation., [RefSeq, PubMed]; Bone morphogenetic protein 10: a novel risk marker of ischaemic stroke in patients with atrial fibrillation., [RefSeq, PubMed]; Crystal structures of BMPRII extracellular domain in binary and ternary receptor complexes with BMP10. Publication Status: Online-Only, [RefSeq, PubMed]; Describes the cloning and expression of murine BMP-10., [RefSeq, PubMed]; Hypertension induced expression of prohypertrophic BMP10, and the hypertrophic effect of BMP10 was modulated, at least in part, by its binding to Tcap at the Z disc., [RefSeq, PubMed]; Repeated Measurement of the Novel Atrial Biomarker BMP10 (Bone Morphogenetic Protein 10) Refines Risk Stratification in Anticoagulated Patients With Atrial Fibrillation: Insights From the ARISTOTLE Trial., [RefSeq, PubMed]; Required for maintaining the proliferative activity of embryonic cardiomyocytes by preventing premature activation of the negative cell cycle regulator CDKN1C/p57KIP and maintaining the required expression levels of cardiogenic factors such as MEF2C and NKX2-5. Acts as a ligand for ACVRL1/ALK1, BMPR1A/ALK3 and BMPR1B/ALK6, leading to activation of SMAD1, SMAD5 and SMAD8 transcription factors. Inhibits endothelial cell migration and growth. May reduce cell migration and cell matrix adhesion in breast cancer cell lines., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which binds to the activin receptor-like kinase 1 (ALK1) and plays important roles in cardiovascular development including cardiomyocyte proliferation and regulation of heart size, closure of the ductus arteriosus, angiogenesis and ventricular trabeculation. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53R17;Q6NTE0", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0031433 telethonin binding;GO:0033612 receptor serine/threonine kinase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0009986 cell surface;GO:0030018 Z disc", "go_biological_process": "GO:0007155 cell adhesion;GO:0030336 negative regulation of cell migration;GO:0045893 positive regulation of DNA-templated transcription;GO:0030308 negative regulation of cell growth;GO:0030509 BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "O95393-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14174-1", "uniprot_id": [ { "id": "MIF_HUMAN", "url": "https://www.uniprot.org/uniprot/P14174", "type": "external" } ], "mass": 12476.0, "length": 115, "protein_name": "Macrophage migration inhibitory factor", "gene_name": "MIF", "organism": "Human", "refseq_name": "macrophage migration inhibitory factor", "refseq_ac": [ { "id": "NP_002406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002406", "type": "external" } ], "gene_names_uniprotkb": "MIF; GLIF; MMIF", "gene_names_refseq": "GIF; GLIF; MIF; MMIF", "protein_names_uniprotkb": "Macrophage migration inhibitory factor; 5.3.2.1; 5.3.3.12; GIF; Glycosylation-inhibiting factor; L-dopachrome isomerase; L-dopachrome tautomerase; MIF; Phenylpyruvate tautomerase", "protein_names_refseq": "L-dopachrome isomerase; L-dopachrome tautomerase; epididymis secretory sperm binding protein; macrophage migration inhibitory factor (glycosylation-inhibiting factor); macrophage migration inhibitory factor; phenylpyruvate tautomerase", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); alcohol-associated liver disease (Disease Ontology:DOID:0070658); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); hypertension (Disease Ontology:DOID:10763); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); allergic disease (Disease Ontology:DOID:1205); toxic shock syndrome (Disease Ontology:DOID:14115); cystic fibrosis (Disease Ontology:DOID:1485); cystitis (Disease Ontology:DOID:1679); epilepsy (Disease Ontology:DOID:1826); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); hamartoma (Disease Ontology:DOID:3462); retinitis (Disease Ontology:DOID:3612); lung non-small cell carcinoma (Disease Ontology:DOID:3908); rhinitis (Disease Ontology:DOID:4483); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); borna disease (Disease Ontology:DOID:5154); pneumonia (Disease Ontology:DOID:552); kidney disease (Disease Ontology:DOID:557); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); myocarditis (Disease Ontology:DOID:820); lung disease (Disease Ontology:DOID:850); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4282); (R-HSA-202733); (R-HSA-6798695); (R-HSA-8950505)", "pathway_count": 4, "publication_count": 189, "publication_id_list": "10.1101/2023.09.13.557529;10233671;10353846;10606205;10764623;11089976;11170644;11207550;11256994;11439086;11508429;11564780;11779189;11812992;12070135;12208882;12469115;12665801;12681488;12782713;1286669;14529530;14615387;15000751;15528364;15592455;15681301;15721307;15908412;1591491;16038020;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17145369;17167768;17172599;17322099;17377532;17379836;17442946;17443469;17452516;17505016;17525755;17526494;17563375;17580308;17600130;17615384;17625065;18512783;18566446;19090677;19117535;19279206;19454686;19531498;19608861;21193412;21209280;21654843;21659548;22223895;22238348;22424782;23328677;23481700;23650620;23739916;23776208;23945545;24043627;24715725;24764293;2538457;25418920;25502872;25505266;2552447;25576301;25802875;25810538;26154972;26280537;26375851;26552660;26758079;26992070;27726376;27846572;27862975;27893789;28228285;28467828;28510447;28514659;28904123;29242379;29317506;29508533;29557506;29632711;30192525;30429286;30573663;30779550;30833945;31217245;31222486;31844290;31848261;31937595;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33592498;33936100;33968037;33981976;34019948;34078123;34087483;34211107;34229054;34357683;34433824;34561969;35051231;35083852;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38436543;38530238;38565329;38665916;38703766;38787620;40596516;40930100;468991;7509040;7521878;7679497;7683862;7947826;8163559;8166770;8188240;8234256;8314844;8610159;8643551;8672555;8692836;8766818;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "MIF as a potential diagnostic and prognostic biomarker for triple-negative breast cancer that correlates with the polarization of M2 macrophages., [RefSeq, PubMed]; Macrophage migration inhibitory factor (MIF) predicts survival in patients with clear cell renal cell carcinoma., [RefSeq, PubMed]; Macrophage migration inhibitory factor mediates skin aging via CD74: Insights from single-cell and bulk RNA sequencing data., [RefSeq, PubMed]; Pro-inflammatory cytokine involved in the innate immune response to bacterial pathogens (PubMed:15908412, PubMed:17443469, PubMed:23776208). The expression of MIF at sites of inflammation suggests a role as mediator in regulating the function of macrophages in host defense (PubMed:15908412, PubMed:17443469, PubMed:23776208). Counteracts the anti-inflammatory activity of glucocorticoids (PubMed:15908412, PubMed:17443469, PubMed:23776208). Has phenylpyruvate tautomerase and dopachrome tautomerase activity (in vitro), but the physiological substrate is not known (PubMed:11439086, PubMed:17526494). It is not clear whether the tautomerase activity has any physiological relevance, and whether it is important for cytokine activity (PubMed:11439086, PubMed:17526494)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Targeting low levels of MIF expression as a potential therapeutic strategy for ALS., [RefSeq, PubMed]; The human MIF polymorphism CATT7 enhances pro-inflammatory macrophage polarization in a clinically relevant model of allergic airway inflammation., [RefSeq, PubMed]; This gene encodes a lymphokine involved in cell-mediated immunity, immunoregulation, and inflammation. It plays a role in the regulation of macrophage function in host defense through the suppression of anti-inflammatory effects of glucocorticoids. This lymphokine and the JAB1 protein form a complex in the cytosol near the peripheral plasma membrane, which may indicate an additional role in integrin signaling pathways. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 29, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A5Z1R8;B2R4S3;Q2V4Y5;Q6FHV0", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "2.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.7", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.11.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.7", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0002020 protease binding;GO:0042056 chemoattractant activity;GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0005126 cytokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0010629 negative regulation of gene expression;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "P14174-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1K1-1", "uniprot_id": [ { "id": "ISCU_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1K1", "type": "external" } ], "mass": 17999.0, "length": 167, "protein_name": "Iron-sulfur cluster assembly enzyme ISCU", "gene_name": "ISCU", "organism": "Human", "refseq_name": "iron-sulfur cluster assembly enzyme ISCU isoform 3 precursor", "refseq_ac": [ { "id": "NP_001306971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306971", "type": "external" } ], "gene_names_uniprotkb": "ISCU; NIFUN", "gene_names_refseq": "2310020H20Rik; HML; ISCU; ISU2; NIFUN; NIFU; hnifU", "protein_names_uniprotkb": "Iron-sulfur cluster assembly enzyme ISCU; NifU-like N-terminal domain-containing protein; NifU-like protein", "protein_names_refseq": "IscU iron-sulfur cluster scaffold homolog; iron-sulfur cluster assembly enzyme ISCU isoform 3 precursor; iron-sulfur cluster assembly enzyme ISCU, mitochondrial; nifU-like N-terminal domain-containing protein", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); mitochondrial myopathy (Disease Ontology:DOID:699); hereditary myopathy with lactic acidosis due to ISCU deficiency (MONDO:MONDO:0009706)", "pathway": " (hsa:23479); (R-HSA-9694301)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "11060020;11237011;16517407;16527810;18296749;18304497;18669648;19664994;20068231;20668094;21165651;21298097;21725060;23035118;23481700;23508953;23940031;24714562;24715725;24971490;26100117;26702583;26992070;27846572;27862975;28218747;28228285;28832583;28904123;29097656;29309586;29437277;29508533;29557506;29576242;29632711;29786170;30031876;30379171;30410026;31101807;31844290;32157095;32357974;32502341;32897882;32938616;33141586;33298915;33717175;33912179;33936100;33968037;34083449;34171305;34211107;34509645;34824239;35051231;8875867", "class_list": "", "function": "Cytoplasmic scaffold protein, of the cytoplasmic core iron-sulfur cluster (ISC) assembly complex that provides the structural architecture on which the Fe-S clusters are assembled and may be involved in the cytoplasmic iron-sulfur protein biogenesis., [UniProtKB, PubMed, PubMed, PubMed]; Data show that the highest level of incorrectly spliced ISCU mRNA was found in skeletal muscle., [RefSeq, PubMed]; Gene ISCU was identified as a candidate within a region of shared homozygosity among patients with myopathy with severe exercise intolerance and myoglobinuria., [RefSeq, PubMed]; ISCU protein deficiency in patients results from muscle-specific mis-splicing and oxidative stress., [RefSeq, PubMed]; Intron mutation in the ISCU gene, leading to incorrectly spliced mRNA, is the cause of myopathy with lactic acidosis in this family., [RefSeq, PubMed]; Mitochondrial scaffold protein, of the core iron-sulfur cluster (ISC) assembly complex, that provides the structural architecture on which the [2Fe-2S] clusters are assembled. The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5. Exists as two slow interchanging conformational states, a structured (S) and disordered (D) form. May modulate NFS1 desulfurase activity in a zinc-dependent manner. Modulates the interaction between FXN and the cysteine desulfurase complex., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P713;Q99617;Q9H1K2", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005506 iron ion binding;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0051537 2 iron, 2 sulfur cluster binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0006879 intracellular iron ion homeostasis;GO:0044571 [2Fe-2S] cluster assembly;GO:1902958 positive regulation of mitochondrial electron transport, NADH to ubiquinone;GO:1904439 negative regulation of iron ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9H1K1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH73-1", "uniprot_id": [ { "id": "COE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH73", "type": "external" } ], "mass": 64464.0, "length": 591, "protein_name": "Transcription factor COE1", "gene_name": "EBF1", "organism": "Human", "refseq_name": "transcription factor COE1 isoform 2", "refseq_ac": [ { "id": "NP_076870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076870", "type": "external" } ], "gene_names_uniprotkb": "EBF1; COE1; EBF", "gene_names_refseq": "COE1; EBF1; EBF; O/E-1; OLF1", "protein_names_uniprotkb": "Transcription factor COE1; Early B-cell factor; O/E-1; OE-1", "protein_names_refseq": "Collier, Olf and EBF transcription factor 1; early B cell factor 1; olfactory neuronal transcription factor 1; transcription factor COE1 isoform 2; transcription factor COE1", "tax_id": 9606, "disease": "lipodystrophy (Disease Ontology:DOID:811)", "pathway": " (hsa:1879); (R-HSA-381340); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10075656;10425206;10942392;11095972;11237011;11872672;12213831;12829629;14630787;15273253;15850785;15919796;16380219;17011499;17980149;18931025;19043829;19115207;19172745;20101261;20592035;23239344;24714562;24800820;25114211;25418920;25576301;26819314;26992070;27515280;27807034;28904123;28968461;29437277;29557506;30429286;31844290;31974307;32066986;32157095;32357974;32502341;32938616;32983136;33592498;33717175;36010968;36241641;36497195;37664915;38318177;39239522;39456973;8325954;8643605;8706692;8770873;8970730;9065481;9454824;9836620", "class_list": "", "function": "(Microbial infection) Acts as a chromatin anchor for Epstein-Barr virus EBNA2 to mediate the assembly of EBNA2 chromatin complexes in B-cells (PubMed:28968461). In addition, binds to the viral LMP1 proximal promoter and promotes its expression during latency (PubMed:26819314)., [UniProtKB, PubMed, PubMed]; Caveolin-1 rs1997623 Single Nucleotide Polymorphism Creates a New Binding Site for the Early B-Cell Factor 1 That Instigates Adipose Tissue CAV1 Protein Overexpression. Publication Status: Online-Only, [RefSeq, PubMed]; EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Key pioneer transcription factor of B-cell specification and commitment (PubMed:27807034). Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and repress genes associated with alternative cell fates. For instance, positively regulates many B-cell specific genes including BCR or CD40 while repressing genes that direct cells into alternative lineages, including GATA3 and TCF7 for the T-cell lineage. In addition to its role during lymphopoiesis, controls the thermogenic gene program in adipocytes during development and in response to environmental cold (By similarity)., [UniProtKB, UniProtKB, PubMed]; Key pioneer transcription factor of B-cell specification and commitment. Recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'. Operates in a transcription factor network to activate B-cell-specific genes and repress genes associated with alternative cell fates. For instance, positively regulates many B-cell specific genes including BCR or CD40 while repressing genes that direct cells into alternative lineages, including GATA3 and TCF7 for the T-cell lineage. In addition to its role during lymphopoiesis, controls the thermogenic gene program in adipocytes during development and in response to environmental cold., [UniProtKB, UniProtKB]; Protective Effect of EBF Transcription Factor 1 (EBF1) Polymorphism in Sporadic and Familial Spontaneous Preterm Birth: Insights from a Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; RBP7 Regulated by EBF1 Affects Th2 Cells and the Oocyte Meiosis Pathway in Bone Metastases of Bladder Urothelial Carcinoma., [RefSeq, PubMed]; Transcriptome analysis reveals EBF1 ablation-induced injuries in cardiac system. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IW11", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9UH73-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGL9-1", "uniprot_id": [ { "id": "CRCT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGL9", "type": "external" } ], "mass": 9736.0, "length": 99, "protein_name": "Cysteine-rich C-terminal protein 1", "gene_name": "CRCT1", "organism": "Human", "refseq_name": "cysteine-rich C-terminal protein 1", "refseq_ac": [ { "id": "NP_061933", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061933", "type": "external" } ], "gene_names_uniprotkb": "CRCT1; C1orf42; NICE1", "gene_names_refseq": "C1orf42; CRCT1; NICE-1; NICE1", "protein_names_uniprotkb": "Cysteine-rich C-terminal protein 1; Protein NICE-1", "protein_names_refseq": "cysteine-rich C-terminal protein 1; protein NICE-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54544)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11230159;26718216", "class_list": "", "function": "CRCT1 functions as a tumor suppressor gene in ESCC and is regulated by miR-520 g, providing potential therapeutic targets for the treatment of ESCC, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4QN00;Q6IAD7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9UGL9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75420-1", "uniprot_id": [ { "id": "GGYF1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75420", "type": "external" } ], "mass": 114601.0, "length": 1035, "protein_name": "GRB10-interacting GYF protein 1", "gene_name": "GIGYF1", "organism": "Human", "refseq_name": "GRB10-interacting GYF protein 1 isoform b", "refseq_ac": [ { "id": "NP_001362694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001362694", "type": "external" } ], "gene_names_uniprotkb": "GIGYF1; CDS2; PERQ1; PP3360", "gene_names_refseq": "GIGYF1; GYF1; PERQ1", "protein_names_uniprotkb": "GRB10-interacting GYF protein 1; PERQ amino acid-rich with GYF domain-containing protein 1", "protein_names_refseq": "GRB10-interacting GYF protein 1 isoform b; PERQ amino acid-rich with GYF domain-containing protein 1; postmeiotic segregation increased 2-like 12", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037)", "pathway": " (hsa:64599)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "12771153;15498874;16964243;18669648;19664995;19690332;20058876;20068231;23186163;23301498;24275569;24714562;26992070;27846572;27862975;28657654;28904123;29493099;29557506;30410026;30429286;31154438;31439631;31492838;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33392160;33592498;33691108;33717175;33968037;33981976;34932366;35051231;35251023;35580925;36010968;36241641;36284347;37484805;39534244;40307207;9799793", "class_list": "", "function": "Low Expression of GIGYF1 Inhibits Metastasis, Proliferation, and Promotes Apoptosis and Autophagy of Gastric Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; May act cooperatively with GRB10 to regulate tyrosine kinase receptor signaling. May increase IGF1 receptor phosphorylation under IGF1 stimulation as well as phosphorylation of IRS1 and SHC1 (By similarity)., [UniProtKB, PubMed]; This gene encodes a member of the gyf family of adaptor proteins. The encoded protein contains a gyf protein interaction domain. It binds growth factor receptor bound 10, another adaptor protein that binds activated insulin-like growth factor 1 and insulin receptors and regulates receptor signaling. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6Y7W7;Q8WZ38", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0045947 negative regulation of translational initiation;GO:0048009 insulin-like growth factor receptor signaling pathway;GO:1990261 pre-mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O75420-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P286-1", "uniprot_id": [ { "id": "PAK5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P286", "type": "external" } ], "mass": 80745.0, "length": 719, "protein_name": "Serine/threonine-protein kinase PAK 5", "gene_name": "PAK5", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PAK 5", "refseq_ac": [ { "id": "NP_065074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065074", "type": "external" } ], "gene_names_uniprotkb": "PAK5; KIAA1264; PAK7", "gene_names_refseq": "PAK5; PAK7", "protein_names_uniprotkb": "Serine/threonine-protein kinase PAK 5; 2.7.11.1; PAK-5; PAK-7; p21-activated kinase 5; p21-activated kinase 7", "protein_names_refseq": "p21 (RAC1) activated kinase 7; p21 protein (Cdc42/Rac)-activated kinase 7; p21(CDKN1A)-activated kinase 7; p21-activated kinase 5; p21-activated kinase 7; p21CDKN1A-activated kinase 7; protein kinase PAK5; serine/threonine-protein kinase PAK 5; serine/threonine-protein kinase PAK 7; serine/threonine-protein kinase PAK7", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:57144); (R-HSA-428540); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013405); (R-HSA-9013407)", "pathway_count": 6, "publication_count": 296, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10805734;10873802;10958683;11007481;11058585;11085924;11149925;11306516;11368848;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11707441;11756552;11773441;11784792;11803464;11804587;11804589;11804590;11809807;11884391;11912491;11948177;11961559;12032833;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12546821;12547822;12577064;12650940;12665586;12773384;12857875;12860998;12877655;12897128;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16014608;16112081;16116428;16184169;16217026;16243036;16473593;16492808;16507994;16519628;16581795;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17028588;17064668;17077126;17145773;17196961;17214551;17244649;17292838;17344846;17583407;17599059;17702745;17765681;17804252;17916560;17932950;17976533;18006505;18045877;18056264;18218625;18249095;18347018;18363964;18396277;18426980;18465753;18653540;18786931;18835169;18838382;18929667;19269969;19494238;19605563;19673492;19713215;19934221;20184954;20400958;20460433;20564219;20679435;20810653;20851766;21148482;21454492;21542010;21565175;21613211;21685891;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22665057;22734669;22970203;23087206;23096567;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23940355;24086303;24102721;24259668;24335996;24352656;24584464;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25704760;25721503;25746724;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27852748;28028151;28114311;28196833;28486133;28825699;28860633;28947137;29089502;29358323;29382922;29510700;29776664;30061681;30379171;30833945;30853411;31871319;32203420;33867848;34936874;35242138;36905268;37437827;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8945468;8990121;8994827;9013646;9099726;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9829970;9843499;9846874;9988689", "class_list": "", "function": "PAK5 is a potential target in myelodysplastic syndrome through interacting with LMO2 and GATA1. Publication Status: Online-Only, [RefSeq, PubMed]; PAK5 potentiates slug transactivation of N-cadherin to facilitate metastasis of renal cell carcinoma., [RefSeq, PubMed]; PAK5 promotes RNA helicase DDX5 sumoylation and miRNA-10b processing in a kinase-dependent manner in breast cancer., [RefSeq, PubMed]; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates the proto-oncogene RAF1 and stimulates its kinase activity. Promotes cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Phosphorylates CTNND1, probably to regulate cytoskeletal organization and cell morphology. Keeps microtubules stable through MARK2 inhibition and destabilizes the F-actin network leading to the disappearance of stress fibers and focal adhesions., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The Predictive Value of PAK7 Mutation for Immune Checkpoint Inhibitors Therapy in Non-Small Cell Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulation of cytoskeletal dynamics, proliferation, and cell survival signaling. This kinase contains a CDC42/Rac1 interactive binding (CRIB) motif, and has been shown to bind CDC42 in the presence of GTP. This kinase is predominantly expressed in brain. It is capable of promoting neurite outgrowth, and thus may play a role in neurite development. This kinase is associated with microtubule networks and induces microtubule stabilization. The subcellular localization of this kinase is tightly regulated during cell cycle progression. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 82, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K5T6;D3DW14;Q5W115;Q8TB93;Q9BX09;Q9ULF6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.168", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.168", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.9.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0008283 cell population proliferation;GO:0016477 cell migration;GO:0035556 intracellular signal transduction;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 29.9, "record_id": "Q9P286-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IX19-1", "uniprot_id": [ { "id": "MCEM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IX19", "type": "external" } ], "mass": 21229.0, "length": 187, "protein_name": "Mast cell-expressed membrane protein 1", "gene_name": "MCEMP1", "organism": "Human", "refseq_name": "mast cell-expressed membrane protein 1", "refseq_ac": [ { "id": "NP_777578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777578", "type": "external" } ], "gene_names_uniprotkb": "MCEMP1; C19orf59", "gene_names_refseq": "C19orf59; MCEMP1", "protein_names_uniprotkb": "Mast cell-expressed membrane protein 1", "protein_names_refseq": "epididymis secretory sperm binding protein; mast cell-expressed membrane protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:199675); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "11237011;15953541;23650620;26846866;31611695;32350084;35251023;35580925;38189137;8692836", "class_list": "", "function": "Mast-cell expressed membrane protein-1 is expressed in classical monocytes and alveolar macrophages in idiopathic pulmonary fibrosis and regulates cell chemotaxis, adhesion, and migration in a TGFbeta-dependent manner., [RefSeq, PubMed]; The expression of the gene MCEMP1 had the strongest association with stroke of 11,181 genes tested., [RefSeq, PubMed]; This gene encodes a single-pass transmembrane protein. Based on its expression pattern, it is speculated to be involved in regulating mast cell differentiation or immune responses. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8IX20", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8IX19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M29-1", "uniprot_id": [ { "id": "TEKT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M29", "type": "external" } ], "mass": 56294.0, "length": 485, "protein_name": "Tektin-5", "gene_name": "TEKT5", "organism": "Human", "refseq_name": "tektin-5", "refseq_ac": [ { "id": "NP_653275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653275", "type": "external" } ], "gene_names_uniprotkb": "TEKT5", "gene_names_refseq": "CT149; TEKT5", "protein_names_uniprotkb": "Tektin-5", "protein_names_refseq": "tektin-5", "tax_id": 9606, "disease": "", "pathway": " (hsa:146279)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;29557506;30379171;33592498;35051231", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. Required for normal sperm mobility., [UniProtKB, UniProtKB]; Sperm-specific microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in flagellar axoneme. Forms an extensive interaction network in different conformations that reinforces the helix bundle composed by other tektin proteins (TEKT1 to TEKT4) and MIPs to anchor the tektin bundle onto the tubulin wall of A-tubule of the sperm flagellum., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1L3Z3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0015630 microtubule cytoskeleton;GO:0036126 sperm flagellum;GO:0160111 axonemal A tubule inner sheath;GO:0005930 axoneme", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96M29-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFU4-1", "uniprot_id": [ { "id": "FDSCP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFU4", "type": "external" } ], "mass": 9700.0, "length": 85, "protein_name": "Follicular dendritic cell secreted peptide", "gene_name": "FDCSP", "organism": "Human", "refseq_name": "follicular dendritic cell secreted peptide precursor", "refseq_ac": [ { "id": "NP_694542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694542", "type": "external" } ], "gene_names_uniprotkb": "FDCSP; C4orf7; PRO1419", "gene_names_refseq": "C4orf7; FDC-SP; FDCSP", "protein_names_uniprotkb": "Follicular dendritic cell secreted peptide; FDC secreted protein; FDC-SP", "protein_names_refseq": "FDC secreted protein; follicular dendritic cell secreted peptide precursor; follicular dendritic cell secreted peptide", "tax_id": 9606, "disease": "", "pathway": " (hsa:260436)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "12193705;12975309;16259954;17548624;20811673;22171320;24357406;25953661;26577469;29356241", "class_list": "", "function": "Can bind to the surface of B-lymphoma cells, but not T-lymphoma cells, consistent with a function as a secreted mediator acting upon B-cells., [UniProtKB]; FDC-SP has a very restricted tissue distribution, expressed by activated FDCs from tonsils and TNF-alpha-activated FDC-like cell lines, but not by B cell lines, primary germinal center B cells, or anti-CD40 plus IL-4-activated B cells., [RefSeq, PubMed]; FDC-SP may be involved in IgA production in the tonsils of Immunoglobulin A nephropathy patients., [RefSeq, PubMed]; LPS-induced upregulation of FDC-SP expression in human periodontal ligament cells may enhance osteoclastogenesis in periodontal disease., [RefSeq, PubMed]; Our findings demonstrate that transfection with FDC-SP has negligible adverse effect on proliferation of hPDLCs and imply the biological function of FDC-SP as a fibroblastic phenotype stabilizer, [RefSeq, PubMed]; Since only normal tissue was examined, these findings suggest that FDC-SP plays an important but previously unsuspected role within oral connective tissue., [RefSeq, PubMed]; The role of C4orf7 in ovarian cancer cell morphology, motility and invasion was demonstrated., [RefSeq, PubMed]; These results provide the first evidence for immunomodulatory activities of FDC-SP and implicate this molecule as a regulator of B cell responses., [RefSeq, PubMed]; These studies show that TNF-alpha stimulates human FDC-SP gene transcription by targeting YY1, GATA, C/EBP2 and C/EBP3 in the FDC-SP gene promoter., [RefSeq, PubMed]; This gene encodes a small secreted protein that is expressed in follicular dendritic cells. This protein specifically binds to activated B cells, and functions as a regulator of antibody responses. It is also thought to contribute to tumor metastases by promoting cancer cell migration and invasion. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8NFU4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96J77-1", "uniprot_id": [ { "id": "TPD55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96J77", "type": "external" } ], "mass": 15503.0, "length": 140, "protein_name": "Tumor protein D55", "gene_name": "TPD52L3", "organism": "Human", "refseq_name": "tumor protein D55 isoform 2", "refseq_ac": [ { "id": "NP_001001874", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001874", "type": "external" } ], "gene_names_uniprotkb": "TPD52L3", "gene_names_refseq": "D55; NYDSP25; TPD52L3; TPD55; hD55", "protein_names_uniprotkb": "Tumor protein D55; Testis development protein NYD-SP25; Tumor protein D52-like 3; hD55", "protein_names_refseq": "protein kinase NYD-SP25; testis development protein NYD-SP25; testis tissue sperm-binding protein Li 87P; tumor protein D52 like 3; tumor protein D55 isoform 2; tumor protein D55", "tax_id": 9606, "disease": "", "pathway": " (hsa:89882)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "16631610;30379171", "class_list": "", "function": "This gene encodes a member of the tumor protein D52-like family of proteins. These proteins are characterized by an N-terminal coiled-coil motif that is used to form homo- and heteromeric complexes with other tumor protein D52-like proteins. The encoded protein may play a role in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TCR3;Q5TCR4;Q5TCR5;Q8N4P5;Q8WWF7;Q96M09", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96J77-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDB6-1", "uniprot_id": [ { "id": "FA156_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDB6", "type": "external" } ], "mass": 24412.0, "length": 213, "protein_name": "Protein FAM156A/FAM156B", "gene_name": "FAM156A; FAM156B", "organism": "Human", "refseq_name": "protein FAM156A/FAM156B", "refseq_ac": [ { "id": "NP_001093154", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093154", "type": "external" } ], "gene_names_uniprotkb": "FAM156A; FAM156B; FAM156B; PP12994; PRO0659; TMEM29B; TMEM29", "gene_names_refseq": "FAM156B; TMEM29B", "protein_names_uniprotkb": "Protein FAM156A/FAM156B; Transmembrane protein 29/29B", "protein_names_refseq": "protein FAM156A/FAM156B; protein FAM156A; transmembrane protein 29/29B; transmembrane protein 29B", "tax_id": 9606, "disease": "", "pathway": " (hsa:29057); (hsa:727866)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11237011;16382448;23186163;26992070;28832583;28834231;29242379;29557506;30429286;31844290;31848261;32502341;32938616;34145793;34561969;35051231", "class_list": "", "function": "Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ92;Q5JPL2;Q5JPL3;Q5JPL4;Q5JPL5;Q5JPL6;Q68D17;Q6NVY3;Q9UI49", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8NDB6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00587-1", "uniprot_id": [ { "id": "BORG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00587", "type": "external" } ], "mass": 40295.0, "length": 391, "protein_name": "Cdc42 effector protein 1", "gene_name": "CDC42EP1", "organism": "Human", "refseq_name": "cdc42 effector protein 1", "refseq_ac": [ { "id": "NP_689449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689449", "type": "external" } ], "gene_names_uniprotkb": "CDC42EP1; BORG5; CEP1; MSE55", "gene_names_refseq": "BORG5; CDC42EP1; CEP1; MSE55", "protein_names_uniprotkb": "Cdc42 effector protein 1; Binder of Rho GTPases 5; Serum protein MSE55", "protein_names_refseq": "55 kDa bone marrow stromal/endothelial cell protein; CDC42 effector protein (Rho GTPase binding) 1; binder of Rho GTPases 5; cdc42 effector protein 1; serum constituent protein; serum protein MSE55", "tax_id": 9606, "disease": "", "pathway": " (hsa:11135); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423)", "pathway_count": 8, "publication_count": 370, "publication_id_list": "10232922;10430899;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10652265;10699171;10699464;10724160;10847683;10873802;10958683;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11864571;11884391;11912491;11919634;11948177;11956649;11961559;11967128;12071859;12093360;12096337;12172552;12177196;12195014;12221096;12242347;12351724;12376551;12432077;12456725;12464619;12531887;12546821;12547822;12650940;12665586;12665801;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15546864;15579468;15601624;15611138;15710388;15728722;15814684;15850391;15858067;15897194;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;1629197;16339170;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17027967;17060455;17064668;17077126;17081983;17145773;17158234;17196961;17214551;17244649;17269730;17322306;17583407;17599059;17698854;17702745;17765681;17804252;17924679;17932950;17976533;18006505;18045877;18056264;18191593;18218625;18220336;18249095;18347018;18363964;18396277;18426980;18477386;18578522;18653540;18662984;18669648;18691976;18697831;18767875;18786931;18835169;18838382;18929667;19258391;19269969;19413330;19494238;19534724;19581409;19605563;19651622;19664994;19664995;19673492;19713215;19934221;20058876;20068231;20166139;20400958;20460433;20679435;20810653;21148482;21151158;21378159;21406692;21454492;21542010;21565175;21613211;21621533;21685891;21730051;21865595;21989057;22004470;22028470;22096251;22298643;22407364;22461490;22475431;22571869;22608513;22734669;22970203;22971344;23029280;23186163;23200924;23209303;23255595;23288169;23301498;23406282;23434736;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24129315;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24623723;24659802;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25678704;25704760;25721503;25795300;25862245;25963737;26016997;26129894;26299518;26529257;26598554;26628301;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;28028151;28114311;28196833;28356423;28825699;28834231;28860633;29089502;29358323;29382922;29393594;29485866;29557506;29786170;30061681;30192525;30379171;30429286;30779550;30853411;31154438;31373491;31389670;31844290;31848261;31871319;32157095;32203420;32302585;32488085;32938616;33968037;34171305;35051231;36010968;36241641;36284347;37757976;37877586;37938771;38665916;7476457;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9268338;9305890;9405671;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9792683;9822598;9822605;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]., [RefSeq]; Hsa_circ_0005991 promotes epithelial-mesenchymal transition by regulating miR-30b-3p/Cdc42EP1 axis in ovary endometriosis., [RefSeq, PubMed]; Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts., [UniProtKB, PubMed]; Salmonella engages CDC42 effector protein 1 for intracellular invasion., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 28, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K825;Q96GN1", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0098641 cadherin binding involved in cell-cell adhesion", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0007266 Rho protein signal transduction;GO:0008360 regulation of cell shape;GO:0031274 positive regulation of pseudopodium assembly;GO:0030838 positive regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 37.4, "record_id": "Q00587-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05682-1", "uniprot_id": [ { "id": "CALD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05682", "type": "external" } ], "mass": 93231.0, "length": 793, "protein_name": "Caldesmon", "gene_name": "CALD1", "organism": "Human", "refseq_name": "caldesmon isoform 2", "refseq_ac": [ { "id": "NP_004333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004333", "type": "external" } ], "gene_names_uniprotkb": "CALD1; CAD; CDM", "gene_names_refseq": "CALD1; CDM; H-CAD; HCAD; L-CAD; LCAD; NAG22; h-CD", "protein_names_uniprotkb": "Caldesmon; CDM", "protein_names_refseq": "caldesmon isoform 2; testis secretory sperm-binding protein Li 227n", "tax_id": 9606, "disease": "proliferative diabetic retinopathy (Disease Ontology:DOID:13207)", "pathway": " (hsa:800); (R-HSA-445355)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10514499;10751321;10991994;11237011;11242081;11457814;11532985;11889009;11983427;12048254;12613668;14506282;14627618;1465449;15377279;1555769;156362;1601129;16115893;16627824;17055381;17081983;17287340;17924679;18212344;18669648;1885618;18974361;18991276;1930128;19380584;19413330;19415658;19651622;19664994;19664995;20068231;20166139;20536391;20858431;21406692;2170388;21738699;22197205;22421042;22778174;23186163;23301498;23834404;24275569;24872348;2526655;25576301;26362469;26992070;2764880;27679490;27726376;27846572;27862975;28741090;29393594;29493099;29508533;29557506;29786170;30379171;30429286;30779550;30833945;31154438;31373491;31530632;31844290;31848261;32157095;32161166;32350084;32488085;32938616;33465208;33592498;33968037;33981976;34019948;34087483;34171305;35051231;35251023;35254053;35318648;35580925;36010968;36241641;36284347;37017680;37217939;3780718;37938771;38365611;38370408;38665916;40596516;8182108;8227296;8858389;9481611;9598563;9600334;9855623", "class_list": "", "function": "Actin- and myosin-binding protein implicated in the regulation of actomyosin interactions in smooth muscle and nonmuscle cells (could act as a bridge between myosin and actin filaments). Stimulates actin binding of tropomyosin which increases the stabilization of actin filament structure. In muscle tissues, inhibits the actomyosin ATPase by binding to F-actin. This inhibition is attenuated by calcium-calmodulin and is potentiated by tropomyosin. Interacts with actin, myosin, two molecules of tropomyosin and with calmodulin. Also plays an essential role during cellular mitosis and receptor capping. Involved in Schwann cell migration during peripheral nerve regeneration (By similarity)., [UniProtKB, PubMed]; METTL14 Promotes Oral Squamous Cell Carcinoma Progression by Regulating the mRNA and m6A Levels of CALD1., [RefSeq, PubMed]; The gene expression of CALD1, CDH2, and POSTN in fibroblast are related to idiopathic pulmonary fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a calmodulin- and actin-binding protein that plays an essential role in the regulation of smooth muscle and nonmuscle contraction. The conserved domain of this protein possesses the binding activities to Ca(2+)-calmodulin, actin, tropomyosin, myosin, and phospholipids. This protein is a potent inhibitor of the actin-tropomyosin activated myosin MgATPase, and serves as a mediating factor for Ca(2+)-dependent inhibition of smooth muscle contraction. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; Upregulation of CALD1 predicted a poor prognosis for platinum-treated ovarian cancer and revealed it as a potential therapeutic resistance target. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 44, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K0X1;Q13978;Q13979;Q14741;Q14742;Q9UD91", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005516 calmodulin binding;GO:0045296 cadherin binding;GO:0017022 myosin binding;GO:0005523 tropomyosin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0001725 stress fiber", "go_biological_process": "GO:0006936 muscle contraction;GO:0051017 actin filament bundle assembly", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q05682-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBG4-1", "uniprot_id": [ { "id": "AT2L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBG4", "type": "external" } ], "mass": 55671.0, "length": 499, "protein_name": "Ethanolamine-phosphate phospho-lyase", "gene_name": "ETNPPL", "organism": "Human", "refseq_name": "ethanolamine-phosphate phospho-lyase isoform 2", "refseq_ac": [ { "id": "NP_001140062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140062", "type": "external" } ], "gene_names_uniprotkb": "ETNPPL; AGXT2L1", "gene_names_refseq": "AGXT2L1; ETNPPL", "protein_names_uniprotkb": "Ethanolamine-phosphate phospho-lyase; 4.2.3.2; Alanine--glyoxylate aminotransferase 2-like 1", "protein_names_refseq": "alanine--glyoxylate aminotransferase 2-like 1; ethanolamine-phosphate phospho-lyase isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64850); (R-HSA-1483213)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10191259;10893425;11044454;11237011;12216837;12221122;15175005;17132865;17478478;18583706;19915674;20332099;22241472;22544926;23761375;25327712;25645385;26294768;29557506;30379171;31154438;31783151;32157095;32218467;33981976;34171305;35051231;35580925;36284347;36924049;7592550;9083101", "class_list": "", "function": "AGXT2L1 function appears to be rigidly confined to phospholipid metabolism, which is altered in neuropsychiatric disturbances., [RefSeq, PubMed]; AGXT2L1 is down-regulated in hepatocellular carcinoma and its low expression indicates a poor prognosis. AGXT2L1 is a crucial gene in the abnormal lipogenesis of HCC tissue., [RefSeq, PubMed]; Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; ETNPPL modulates hyperinsulinemia-induced insulin resistance through the SIK1/ROS-mediated inactivation of the PI3K/AKT signaling pathway in hepatocytes., [RefSeq, PubMed]; Lipidomic analysis of human primary hepatocytes following LXR activation with GW3965 identifies AGXT2L1 as a main target associated to changes in phosphatidylethanolamine., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]; The pH dependence of the catalytic parameters and the pattern of inhibition by the product phosphate and by other anionic compounds suggest that the active site of PEA phospho-lyase is optimized to bind dianionic groups., [RefSeq, PubMed]; Transformation Foci in IDH1-mutated Gliomas Show STAT3 Phosphorylation and Downregulate the Metabolic Enzyme ETNPPL, a Negative Regulator of Glioma Growth. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1Y0;E9PBY0;Q9H174", "ec_number_list": [ { "id": "4.2.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.3.2", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0050459 ethanolamine-phosphate phospho-lyase activity", "go_cellular_component": "GO:0005759 mitochondrial matrix;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8TBG4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHS4-1", "uniprot_id": [ { "id": "CLHC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHS4", "type": "external" } ], "mass": 67250.0, "length": 586, "protein_name": "Clathrin heavy chain linker domain-containing protein 1", "gene_name": "CLHC1", "organism": "Human", "refseq_name": "clathrin heavy chain linker domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001129070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129070", "type": "external" } ], "gene_names_uniprotkb": "CLHC1; C2orf63", "gene_names_refseq": "C2orf63; CLHC1", "protein_names_uniprotkb": "Clathrin heavy chain linker domain-containing protein 1", "protein_names_refseq": "clathrin heavy chain linker domain-containing protein 1 isoform 2; clathrin heavy chain linker domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:130162)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;28228285;30315122;30379171;31217245;31844290;32265295;32357974;33968037;36010968;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDV1;Q53R93;Q8N403", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NHS4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2TB18-1", "uniprot_id": [ { "id": "ASTE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2TB18", "type": "external" } ], "mass": 77093.0, "length": 679, "protein_name": "Single-strand DNA endonuclease ASTE1", "gene_name": "ASTE1", "organism": "Human", "refseq_name": "single-strand DNA endonuclease ASTE1 isoform 1", "refseq_ac": [ { "id": "NP_001275879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275879", "type": "external" } ], "gene_names_uniprotkb": "ASTE1; HT001", "gene_names_refseq": "ASTE1; HT001", "protein_names_uniprotkb": "Single-strand DNA endonuclease ASTE1; 3.1.-.-; Protein asteroid homolog 1", "protein_names_refseq": "protein asteroid homolog 1; single-strand DNA endonuclease ASTE1 isoform 1; single-strand DNA endonuclease ASTE1", "tax_id": 9606, "disease": "mismatch repair cancer syndrome (Disease Ontology:DOID:0112182); Lynch syndrome (Disease Ontology:DOID:3883)", "pathway": " (hsa:28990)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10931946;11237011;19503063;23344038;25645385;25892735;26758079;26992070;27893789;28834231;28904123;29242379;29769354;31154438;31844290;31848261;33717175;34354233;34357683;34983924;35051231;36581221", "class_list": "", "function": "ASTE1 frameshift mutation triggers the immune response in Epstein-Barr virus-associated gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection., [RefSeq, PubMed]; Data suggest that calcium ATPase ATP2C1 gene expression is influenced by an overlapping protein asteroid homolog 1 ASTE1 gene. Publication Status: Online-Only, [RefSeq, PubMed]; Structure-specific DNA endonuclease that specifically cleaves single-stranded DNA and 3' overhang DNA. Contributes to the control of DNA double-strand break repair choice by antagonizing BRCA1-dependent homologous recombination (HR) and promoting non-homologous end-joining (NHEJ). Recruited to the single-stranded DNA ends by SHLD2 and cleaves the 3' exposed DNA ends, therefore inhibiting DNA end resection (necessary for HR) and promoting DNA end protection (necessary for NHEJ)., [UniProtKB, PubMed]; The four most frequently mutated genes in colorectal cancers with microsatellite instability were ACVR2 (92%), TAF1B (84%), ASTE1/HT001 (80%) and TGFBR2 (77%)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFL9;Q3MIB6;Q8N6G4;Q96JY1;Q9UHX6", "ec_number_list": [], "go_molecular_function": "GO:0000014 single-stranded DNA endodeoxyribonuclease activity;GO:1990599 3' overhang single-stranded DNA endodeoxyribonuclease activity;GO:0004520 DNA endonuclease activity", "go_cellular_component": "", "go_biological_process": "GO:0006303 double-strand break repair via nonhomologous end joining;GO:0000724 double-strand break repair via homologous recombination;GO:0006310 DNA recombination", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q2TB18-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHX1-1", "uniprot_id": [ { "id": "PUF60_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHX1", "type": "external" } ], "mass": 59875.0, "length": 559, "protein_name": "Poly(U)-binding-splicing factor PUF60", "gene_name": "PUF60", "organism": "Human", "refseq_name": "poly(U)-binding-splicing factor PUF60 isoform c", "refseq_ac": [ { "id": "NP_001129505", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129505", "type": "external" } ], "gene_names_uniprotkb": "PUF60; FIR; ROBPI; SIAHBP1", "gene_names_refseq": "FIR; PUF60; RoBPI; SIAHBP1; VRJS", "protein_names_uniprotkb": "Poly(U)-binding-splicing factor PUF60; 60 kDa poly(U)-binding-splicing factor; FBP-interacting repressor; FUSE-binding protein-interacting repressor; Ro-binding protein 1; RoBP1; Siah-BP1; Siah-binding protein 1", "protein_names_refseq": "FBP interacting repressor; FUSE-binding protein-interacting repressor; Ro ribonucleoprotein-binding protein 1; Siah binding protein 1; poly(U) binding splicing factor 60KDa; poly(U)-binding-splicing factor PUF60 isoform c; pyrimidine tract binding splicing factor", "tax_id": 9606, "disease": "8q24.3 microdeletion syndrome (MONDO:MONDO:0014263)", "pathway": " (hsa:22827); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 243, "publication_id_list": "10199952;10606266;10668799;10669729;10882074;10882114;11014198;11060040;11101529;11233976;11237011;11239393;11747608;11991638;12176931;12411573;12414731;12477934;12682017;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15647753;16263726;16314458;16372014;16452196;16628215;16809785;16964243;17095540;17128255;17332742;17433364;17579712;17606899;17717186;18042460;18288197;18322460;18491316;18593880;18669648;19103666;19165350;19217410;19413330;19536130;19608861;20058876;20068231;20112406;20211137;20423332;20695905;20980672;21295486;21536652;2176635;21911577;22046413;22110043;22121020;22365833;22569126;22645359;22813749;22898188;22922743;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23874216;24076191;24140112;24149845;24196718;24304693;24366607;24397554;24448447;24714562;24715725;24737827;24914973;25218447;25301780;25301781;25418920;25469497;25505266;25555158;25576301;2558966;25645385;25810538;26024233;26092250;26154972;26375851;26385511;26420826;26728094;26811146;26969736;26992070;27108190;27377154;27459055;27600516;27661449;27683217;27846572;27920218;28062851;28063628;28076346;28096519;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28855257;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29485866;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30410026;30484775;30524438;30599162;30698747;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31409651;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33446560;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34301950;34357683;34509645;34725712;34822310;35051231;35138101;35177536;35215846;35385551;35580925;36010968;36215666;36241641;37217939;3757028;37682709;37938771;38396730;38665916;39302247;39531497;39534244;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Does not repress TFIIH-mediated transcription in xeroderma pigmentosum complementation group B (XPB) cells. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Isoform 6 failed to repress MYC transcription and inhibited FIR-induced apoptosis in colorectal cancer. Isoform 6 may contribute to tumor progression by enabling increased MYC expression and greater resistance to apoptosis in tumors than in normal cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with RO60. Binds to poly(U) RNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders. Publication Status: Online-Only, [RefSeq, PubMed]; PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C., [RefSeq, PubMed]; This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K8K8;Q969E7;Q96D94;Q96H63;Q99628;Q9NZA0;Q9UJY7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:1990904 ribonucleoprotein complex;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006915 apoptotic process;GO:0006376 mRNA splice site recognition;GO:0000380 alternative mRNA splicing, via spliceosome;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "Q9UHX1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVJ2-1", "uniprot_id": [ { "id": "ARL8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVJ2", "type": "external" } ], "mass": 21539.0, "length": 186, "protein_name": "ADP-ribosylation factor-like protein 8B", "gene_name": "ARL8B", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 8B", "refseq_ac": [ { "id": "NP_060654", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060654", "type": "external" } ], "gene_names_uniprotkb": "ARL8B; ARL10C; GIE1", "gene_names_refseq": "ARL10C; ARL8B; Gie1", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 8B; 3.6.5.2; ADP-ribosylation factor-like protein 10C; Novel small G protein indispensable for equal chromosome segregation 1", "protein_names_refseq": "ADP ribosylation factor like GTPase 8B; ADP-ribosylation factor-like 10C; ADP-ribosylation factor-like 8B; ADP-ribosylation factor-like protein 10C; ADP-ribosylation factor-like protein 8B; GTPase indispensable for equal segregation of chromosomes 1; novel small G protein indispensable for equal chromosome segregation 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55207)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;15331635;16537643;16650381;17897319;21654843;21802320;22172677;22223895;24088571;24366607;25576301;25898167;25908847;26811146;26992070;27452731;27808481;27920218;28228285;28325809;28467828;28510447;28832583;29242379;29314611;29317506;29557506;29592961;29632711;30429286;30626607;30833945;31530632;31611695;31844290;32157095;32161166;32350084;32938616;32983136;33157038;33592498;33691108;33912179;33936100;33968037;34087483;34725712;35051231;35154160;35251023;35314674;35580925;36282215;36284347;37938771;38665916;39413890", "class_list": "", "function": "(Microbial infection) During Mycobacterium tuberculosis (Mtb) infection, is required for plasma membrane repair by controlling the exocytosis of lysosomes in macrophages. ARL8B secretion pathway is crucial to control the type of cell death of the M.tuberculosis-infected macrophages, distinguishing avirulent from virulent Mtb induced necrotic cell death., [UniProtKB, PubMed]; (Microbial infection) During infection, coronaviruses such as SARS-CoV-2 and the chaperone HSPA5/GRP78 are probably co-released through ARL8B-dependent lysosomal exocytic pathway for unconventional egress., [UniProtKB, PubMed]; ARL8B promotes hepatocellular carcinoma progression and inhibits antitumor activity of lenvatinib via MAPK/ERK signaling by interacting with RAB2A., [RefSeq, PubMed]; Arl8b is involved in trafficking processes for lysosomes., [RefSeq, PubMed]; RUFY1 binds Arl8b and mediates endosome-to-TGN CI-M6PR retrieval for cargo sorting to lysosomes., [RefSeq, PubMed]; Results suggest that the novel GTPases Gie1 and Gie2 associate with microtubules, and might be involved in chromosome segregation., [RefSeq, PubMed]; Small GTPase which cycles between active GTP-bound and inactive GDP-bound states (PubMed:15331635, PubMed:16537643). In its active state, binds to a variety of effector proteins playing a key role in the regulation of lysosomal positioning which is important for nutrient sensing, natural killer cell-mediated cytotoxicity and antigen presentation. Along with its effectors, orchestrates lysosomal transport and fusion (PubMed:16537643, PubMed:16650381, PubMed:25898167, PubMed:27808481, PubMed:28325809). Localizes specifically to lysosomal membranes and mediates anterograde lysosomal motility by recruiting PLEKHM2, which in turn recruits the motor protein kinesin-1 on lysosomes. Required for lysosomal and cytolytic granule exocytosis (PubMed:22172677, PubMed:24088571, PubMed:29592961). Critical factor involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells (PubMed:24088571). In neurons, mediates the anterograde axonal long-range transport of presynaptic lysosome-related vesicles required for presynaptic biogenesis and synaptic function (By similarity). Also acts as a regulator of endosome to lysosome trafficking pathways of special significance for host defense (PubMed:21802320). Recruits RUFY1 onto early endosomes regulating endosomes to trans-Golgi network proteins retrieval (PubMed:36282215). Regulates cargo trafficking to lysosomes by binding to PLEKHM1 and recruiting the HOPS subunit VPS41, resulting in functional assembly of the HOPS complex on lysosomal membranes (PubMed:16537643, PubMed:25908847). Plays an important role in cargo delivery to lysosomes for antigen presentation and microbial killing. Directs the intersection of CD1d with lipid antigens in lysosomes, and plays a role in intersecting phagosomes with lysosomes to generate phagolysosomes that kill microbes (PubMed:21802320, PubMed:25908847). Involved in the process of MHC II presentation. Regulates the delivery of antigens to lysosomes and the formation of MHC II-peptide complexes through the recruitment of the HOPS complex to lysosomes allowing the fusion of late endosomes to lysosomes (By similarity). May play a role in chromosome segregation (PubMed:15331635)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DI85", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0048487 beta-tubulin binding;GO:0019003 GDP binding;GO:0043014 alpha-tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse;GO:0051233 spindle midzone", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0007059 chromosome segregation;GO:0015031 protein transport;GO:0051301 cell division;GO:0008089 anterograde axonal transport", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9NVJ2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VB7-1", "uniprot_id": [ { "id": "C163A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VB7", "type": "external" } ], "mass": 125451.0, "length": 1156, "protein_name": "Scavenger receptor cysteine-rich type 1 protein M130", "gene_name": "CD163", "organism": "Human", "refseq_name": "scavenger receptor cysteine-rich type 1 protein M130 isoform a precursor", "refseq_ac": [ { "id": "NP_004235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004235", "type": "external" } ], "gene_names_uniprotkb": "CD163; M130", "gene_names_refseq": "CD163; M130; MM130; SCARI1", "protein_names_uniprotkb": "Scavenger receptor cysteine-rich type 1 protein M130; Hemoglobin scavenger receptor", "protein_names_refseq": "hemoglobin scavenger receptor; macrophage-associated antigen; scavenger receptor cysteine-rich type 1 protein M130 isoform a precursor; scavenger receptor cysteine-rich type 1 protein M130", "tax_id": 9606, "disease": "hemophagocytic lymphohistiocytosis (Disease Ontology:DOID:0050120); adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); traumatic brain injury (Disease Ontology:DOID:0081292); lepromatous leprosy (Disease Ontology:DOID:10887); brucellosis (Disease Ontology:DOID:11077); Hantavirus hemorrhagic fever with renal syndrome (Disease Ontology:DOID:11266); malaria (Disease Ontology:DOID:12365); uveitis (Disease Ontology:DOID:13141); diverticulitis of colon (Disease Ontology:DOID:13254); hidradenitis suppurativa (Disease Ontology:DOID:2280); acute pancreatitis (Disease Ontology:DOID:2913); glomerulonephritis (Disease Ontology:DOID:2921); Epstein-Barr virus infectious disease (Disease Ontology:DOID:2938); pulmonary tuberculosis (Disease Ontology:DOID:2957); Ebola virus disease (Disease Ontology:DOID:4325); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); Whipple disease (Disease Ontology:DOID:8476); cutaneous leishmaniasis (Disease Ontology:DOID:9111); visceral leishmaniasis (Disease Ontology:DOID:9146); nasopharynx carcinoma (Disease Ontology:DOID:9261); brain disease (Disease Ontology:DOID:936); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:9332); (R-HSA-2168880); (R-HSA-9662834)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10066432;1008494;10381560;10403791;10497257;10577520;10601018;10648003;10975989;11196644;11237011;11298324;11688984;11877257;12058067;12208511;12296867;12377940;1252417;12621058;12755693;13342742;13472068;14623079;15075364;15448162;15478309;15479433;15542058;15697213;15947085;16046400;16189277;16335952;16434690;1646599;16778136;17008602;17102136;17845074;18556779;19139490;19159218;19324878;19650691;20188673;20430887;20807704;20920479;22246777;22246778;22492620;22922649;23090970;24275664;24338472;25795784;2806549;2833500;29045841;29242379;29391424;29393594;29557506;29741879;29786170;30459171;31154438;31848261;32983136;33043033;33123756;35051231;35580925;37074911;38308298;38373967;38651547;3891754;39462379;4074707;4327491;496916;5135507;6480598;6849882;7263686;7287740;7378053;8370408;8424694;8855948;8921966;9520379;9523318;971416", "class_list": "", "function": "Acute phase-regulated receptor involved in clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages and may thereby protect tissues from free hemoglobin-mediated oxidative damage. May play a role in the uptake and recycling of iron, via endocytosis of hemoglobin/haptoglobin and subsequent breakdown of heme. Binds hemoglobin/haptoglobin complexes in a calcium-dependent and pH-dependent manner. Exhibits a higher affinity for complexes of hemoglobin and multimeric haptoglobin of HP*1F phenotype than for complexes of hemoglobin and dimeric haptoglobin of HP*1S phenotype. Induces a cascade of intracellular signals that involves tyrosine kinase-dependent calcium mobilization, inositol triphosphate production and secretion of IL6 and CSF1. Isoform 3 exhibits the higher capacity for ligand endocytosis and the more pronounced surface expression when expressed in cells., [UniProtKB]; After shedding, the soluble form (sCD163) may play an anti-inflammatory role, and may be a valuable diagnostic parameter for monitoring macrophage activation in inflammatory conditions., [UniProtKB]; CD163+ macrophage density in perimysial connective tissue associated with prognosis in IMNM., [RefSeq, PubMed]; Differential expression of Semaphorin-7A /CD163-positive macrophages in large artery and cardiogenic stroke. Publication Status: Online-Only, [RefSeq, PubMed]; HOXA9 and CD163 potentiate pancreatic ductal adenocarcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; The relationship between high ratios of CD4/FOXP3 and CD8/CD163 and the improved survivability of metastatic triple-negative breast cancer patients: a multicenter cohort study. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 74, "disease_count": 25, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "C9JIG2;Q07898;Q07899;Q07900;Q07901;Q2VLH7", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0097110 scaffold protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0006953 acute-phase response", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "Q86VB7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06753-1", "uniprot_id": [ { "id": "TPM3_HUMAN", "url": "https://www.uniprot.org/uniprot/P06753", "type": "external" } ], "mass": 32950.0, "length": 285, "protein_name": "Tropomyosin alpha-3 chain", "gene_name": "TPM3", "organism": "Human", "refseq_name": "tropomyosin alpha-3 chain isoform Tpm3.2cy", "refseq_ac": [ { "id": "NP_001036816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036816", "type": "external" } ], "gene_names_uniprotkb": "TPM3", "gene_names_refseq": "CAPM1; CFTD; CMYO4A; CMYO4B; CMYP4A; CMYP4B; HEL-189; HEL-S-82p; NEM1; OK/SW-cl.5; TM-5; TM30nm; TM30; TM3; TM5; TPM3nu; TPM3; TPMsk3; TRK; hscp30", "protein_names_uniprotkb": "Tropomyosin alpha-3 chain; Gamma-tropomyosin; Tropomyosin-3; Tropomyosin-5; hTM5", "protein_names_refseq": "alpha-tropomyosin, slow skeletal; cytoskeletal tropomyosin TM30; epididymis luminal protein 189; epididymis secretory sperm binding protein Li 82p; heat-stable cytoskeletal protein 30 kDa; tropomyosin 3 nu; tropomyosin alpha-3 chain isoform Tpm3.2cy; tropomyosin alpha-3 chain; tropomyosin gamma; tropomyosin-5", "tax_id": 9606, "disease": "congenital myopathy 4A (Disease Ontology:DOID:0080102); congenital myopathy 4B (Disease Ontology:DOID:0110926); dilated cardiomyopathy (Disease Ontology:DOID:12930); papillary thyroid carcinoma (Disease Ontology:DOID:3969)", "pathway": " (hsa:7170); (R-HSA-390522); (R-HSA-445355); (R-HSA-9013424); (R-HSA-9725370)", "pathway_count": 5, "publication_count": 202, "publication_id_list": "10216106;10556217;10587521;10702393;10706082;10706887;10747208;10934142;10991994;11110708;11237011;11242081;11280786;11310834;11457814;11504915;11532985;11751994;11850821;11889009;11943732;11988758;12048254;12105844;12112524;12185581;12424201;12574106;12750159;12800156;1286667;12920229;12934099;14506282;14521508;14627618;14962911;15169778;15208656;15302935;15374880;15377279;15588951;156362;15895073;16153455;16161041;16170336;16201836;16825495;16871283;16939498;17055381;17086210;17353907;17355222;17376686;17416736;17483340;17625570;18097461;18300303;18382475;18452278;18452557;18593892;18594010;18701132;18724359;18923523;18923524;18923525;18974361;1930128;19380584;19456272;19459784;19487656;19553118;19608861;19664994;19953533;20068231;20454865;20951040;21134980;21164297;21213368;21415216;21494621;21596819;21656749;21838707;21847362;22249260;22327622;22339630;22347464;22421042;22570254;22658521;22778174;23104988;23139213;23186163;23201355;23239810;23661334;23834404;23957430;24060861;24239060;24366607;24445538;24475247;24496003;24518094;24613930;24692096;24714562;24736082;24872348;2526655;25342631;25393796;25421750;25813404;25921060;26001147;26062823;26301689;26362469;27245569;27573755;2764880;27679490;27874193;27920218;28404650;28649982;28659337;2869410;28741090;28741662;28832583;28904123;29455642;29493099;29557506;29632711;29873274;30131584;3018581;3024106;30429286;30692217;30779550;31154438;31366041;31844290;31848261;31871319;32157095;32161166;32350084;32387766;32488085;32938616;32977471;33109704;33912179;33936100;33968037;33981976;34078123;3418707;34357683;34433824;34509645;34932366;35008409;35051231;35251023;35318648;35510366;35561310;35580925;36241641;3780718;37938771;40307207;7704029;7824924;8002995;8633037;8858389;9481611;9598563;9600334;9778532;9819383;9855623", "class_list": "", "function": "Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments., [UniProtKB, UniProtKB]; Cloned and sequenced a novel nonmuscle tropomyosin (hTM) isoform, TC22, which is strongly associated with colonic neoplasia and carcinoma, [RefSeq, PubMed]; This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DV71;P12324;Q2QD06;Q5VU58;Q5VU63;Q5VU66;Q5VU71;Q5VU72;Q8TCG3;Q969Q2;Q9NQH8", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005884 actin filament;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006936 muscle contraction;GO:0007015 actin filament organization", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "P06753-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20042-1", "uniprot_id": [ { "id": "IF2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P20042", "type": "external" } ], "mass": 38388.0, "length": 333, "protein_name": "Eukaryotic translation initiation factor 2 subunit 2", "gene_name": "EIF2S2", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 2 subunit 2 isoform 1", "refseq_ac": [ { "id": "NP_003899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003899", "type": "external" } ], "gene_names_uniprotkb": "EIF2S2; EIF2B", "gene_names_refseq": "EIF2B; EIF2S2; EIF2beta; EIF2; PPP1R67; eIF-2-beta", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 2 subunit 2; Eukaryotic translation initiation factor 2 subunit beta; eIF2-beta", "protein_names_refseq": "eIF2-beta; eukaryotic translation initiation factor 2 subunit 2 isoform 1; eukaryotic translation initiation factor 2 subunit 2; eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa; protein phosphatase 1, regulatory subunit 67", "tax_id": 9606, "disease": "leukodystrophy (Disease Ontology:DOID:10579)", "pathway": " (hsa:8894); (R-HSA-156827); (R-HSA-381042); (R-HSA-382556); (R-HSA-72649); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72731); (R-HSA-9633012); (R-HSA-9648895); (R-HSA-9833482); (R-HSA-9840373)", "pathway_count": 13, "publication_count": 347, "publication_id_list": "10.1101/2023.09.13.557529;10026192;10082513;10348343;10364207;10400669;10484077;10620360;10626894;10648614;10659855;10665657;10748049;10848580;10866685;1095581;10982836;11018020;11018027;1104615;11096080;11134010;11152499;11156368;11163539;11238103;11238927;11241327;11278865;11313968;11337501;11350938;11438540;11500375;11504826;11562789;11677247;11691921;11781817;11812794;11907036;11909525;11939789;11985496;12231563;12370288;12379217;12379510;12397061;12403779;12588972;12604685;12882984;1352877;1356264;1359686;1373135;1377674;1400365;14567916;14585331;14630918;14661924;15175422;15229216;15299030;15314157;15385533;15472518;15737233;15752359;15775988;15781252;15863492;15899824;15907845;16026328;16179258;16179259;16225457;16288713;16373505;16431927;16600570;16717090;16816140;16901789;1695551;16982605;16989641;17079286;17081983;17140605;17196820;17267404;17322306;17523162;17726049;17855752;17894550;17956313;17977821;18055463;18077418;18096616;18282684;18285520;18434309;18452278;1856230;18664456;18669648;18691976;18707149;18835251;18957415;19002207;19229320;19416861;19447222;19570978;19608861;19651622;1968359;19690332;19710021;19733181;19804757;19838063;19862647;1998343;20068231;20361218;20395957;20423929;20519500;20583968;20621639;20685959;21072047;21123651;21294215;21406692;21518807;21636578;21745818;21937648;21978664;21994559;22178883;22214662;22223895;2247437;22813744;22986343;23063411;23063529;23084476;23186163;23229543;23269699;23732991;23876217;24019521;24347309;24623135;24659800;24685677;24715725;24753571;2475911;2491852;25133187;25147208;25433032;25502872;25505266;25576301;25653431;2570070;25848059;25931127;26154972;26208431;26432638;26446704;26488609;26716879;26811146;26817845;26853435;26923599;26992070;27208315;27269119;27423063;27526673;27600516;27846572;27862975;27974558;28069888;28132103;28167698;28218747;28228285;28281686;28510447;28514659;28765891;28814160;28832583;28834231;28904123;2898143;29170442;29175459;29231267;29242379;29314611;29348664;29393594;29394925;29395325;29413899;29440070;29493099;29501855;29508533;29557506;29786170;30174290;30315122;30429286;3044606;30551605;30770398;30779550;30804176;30833945;31031002;31048492;31154438;31217245;31530632;31836389;31844290;32093270;32119511;32132706;32132707;32157095;32350084;32387766;32488085;32502341;32690955;32716602;32801355;32897882;32938616;32981041;32983136;33214551;33298915;33392160;3356695;33592498;33717175;33808629;33911136;33912179;33936100;33968037;33981976;34019948;34171305;34174402;34260931;3457471;3472246;34725712;34932366;34974812;35031321;35051231;35163244;35251023;35388015;35561310;35580925;35685460;35947956;36215666;36241641;36284347;36712380;37127961;37217939;37327776;37550454;38159565;38665916;40914422;429297;592398;592399;641056;6853548;7000367;7491766;7515177;7523390;7529176;7545299;7553863;7553864;7565688;7693978;7737357;7865904;7903669;8024572;8336711;8576172;8576179;8661426;8810342;8910500;8943342;9034343;9045610;9079663;9153226;9211906;9442054;9521856;9528799;9652413;9687506;9732867;9737981;9816258;9819388;9831708;9857202;9920933", "class_list": "", "function": "Component of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:31836389). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form the 43S pre-initiation complex (43S PIC). Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity)., [UniProtKB, PubMed, UniProtKB]; Eukaryotic translation initiation factor 2 (EIF-2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. EIF-2 is composed of three subunits, alpha, beta, and gamma, with the protein encoded by this gene representing the beta subunit. The beta subunit catalyzes the exchange of GDP for GTP, which recycles the EIF-2 complex for another round of initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]., [RefSeq]; Recruitment of trimeric eIF2 by phosphatase non-catalytic subunit PPP1R15B., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BVU0;Q9UJE4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0008135 translation factor activity, RNA binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045202 synapse;GO:0005850 eukaryotic translation initiation factor 2 complex", "go_biological_process": "GO:0002183 cytoplasmic translational initiation;GO:0006413 translational initiation;GO:0006446 regulation of translational initiation;GO:0001731 formation of translation preinitiation complex", "synthesized_glycan_count": 0, "hit_score": 35.2, "record_id": "P20042-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H324-1", "uniprot_id": [ { "id": "ATS10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H324", "type": "external" } ], "mass": 120874.0, "length": 1103, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 10", "gene_name": "ADAMTS10", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 2", "refseq_ac": [ { "id": "NP_001269281", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269281", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS10", "gene_names_refseq": "ADAM-TS10; ADAMTS-10; ADAMTS10; WMS1; WMS", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 10; 3.4.24.-; ADAM-TS 10; ADAM-TS10; ADAMTS-10", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 2; ADAM-TS 10; a disintegrin and metalloproteinase with thrombospondin motifs 10; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10; zinc metalloendopeptidase", "tax_id": 9606, "disease": "Weill-Marchesani syndrome (Disease Ontology:DOID:0050475); Weill-Marchesani syndrome 1 (Disease Ontology:DOID:0061273)", "pathway": " (hsa:81794); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11067851;11237011;15355968;15368195;16464858;18567016;18720094;19796186;19836009;21402694;22588082;23422823;23889335;25544610;27779234;32938616;35051231;35193931;35925524;37240210;38253038", "class_list": "glycogene", "function": "A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart. Publication Status: Online-Only, [RefSeq, PubMed]; ADAMTS10 inhibits aggressiveness via JAK/STAT/c-MYC pathway and reprograms macrophage to create an anti-malignant microenvironment in gastric cancer., [RefSeq, PubMed]; Metalloprotease that participate in microfibrils assembly. Microfibrils are extracellular matrix components occurring independently or along with elastin in the formation of elastic tissues., [UniProtKB, PubMed, UniProtKB, UniProtKB]; These findings support the Gly661Arg mutation of ADAMTS10 as the likely cause of POAG in beagles. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; Using siRNA, over-expression and mutagenesis, it was found ADAMTS6 inhibits and ADAMTS10 is required for focal adhesions, epithelial cell-cell junction formation, and microfibril deposition. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1339, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "M0QZE4", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0008237 metallopeptidase activity", "go_cellular_component": "GO:0031012 extracellular matrix;GO:0001527 microfibril", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9H324-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62333-1", "uniprot_id": [ { "id": "PRS10_HUMAN", "url": "https://www.uniprot.org/uniprot/P62333", "type": "external" } ], "mass": 44173.0, "length": 389, "protein_name": "26S proteasome regulatory subunit 10B", "gene_name": "PSMC6", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PSMC6; SUG2", "gene_names_refseq": "", "protein_names_uniprotkb": "26S proteasome regulatory subunit 10B; 26S proteasome AAA-ATPase subunit RPT4; Proteasome 26S subunit ATPase 6; Proteasome subunit p42", "protein_names_refseq": "", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696)", "pathway": " (hsa:5706); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9735871); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1045, "publication_id_list": 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"class_list": "", "function": "Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC6 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R975;P49719;Q6IBU3;Q92524", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0036402 proteasome-activating activity", "go_cellular_component": "GO:0031597 cytosolic proteasome complex;GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 104.8, "record_id": "P62333-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16278-1", "uniprot_id": [ { "id": "BGAL_HUMAN", "url": "https://www.uniprot.org/uniprot/P16278", "type": "external" } ], "mass": 76075.0, "length": 677, "protein_name": "Beta-galactosidase", "gene_name": "GLB1", "organism": "Human", "refseq_name": "beta-galactosidase isoform c precursor", "refseq_ac": [ { "id": "NP_001129074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129074", "type": "external" } ], "gene_names_uniprotkb": "GLB1; ELNR1", "gene_names_refseq": "EBP; ELNR1; GLB1; MPS4B", "protein_names_uniprotkb": "Beta-galactosidase; 3.2.1.23; Acid beta-galactosidase; Elastin receptor 1; Lactase", "protein_names_refseq": "acid beta-galactosidase; beta-galactosidase isoform c precursor; elastin binding protein; elastin receptor 1, 67kDa; lactase", "tax_id": 9606, "disease": "GM1 gangliosidosis type 3 (Disease Ontology:DOID:0080489); GM1 gangliosidosis type 2 (Disease Ontology:DOID:0080501); GM1 gangliosidosis type 1 (Disease Ontology:DOID:0080502); mucopolysaccharidosis type IVB (Disease Ontology:DOID:0111392); mucopolysaccharidosis IV (Disease Ontology:DOID:12804); GM1 gangliosidosis (Disease Ontology:DOID:3322); Morquio syndrome C (MONDO:MONDO:0009647)", "pathway": " (hsa:2720); (R-HSA-2022857); (R-HSA-2024101); (R-HSA-2206308); (R-HSA-4085001); (R-HSA-4341670); (R-HSA-6798695); (R-HSA-9840310); (R-HSA-9953111)", "pathway_count": 9, "publication_count": 268, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10196694;10206952;10330343;10334995;10338095;10339581;10405317;10406958;10431835;10504389;10536037;10571006;10581036;10737981;10742600;10749855;10781797;10823942;10839995;10841810;10861246;10942779;10947946;10993717;11062056;11237011;11279095;11350180;11489889;11511921;11528398;11568288;11602804;11702224;11707436;11751519;11784319;11916006;12177386;12235148;12374214;12393180;12473780;12510003;12518053;12566438;12594539;12603328;12644936;12662933;12668675;12743242;12885774;12888274;12909021;1352293;1352993;1463457;14695530;1487238;14962670;15003450;15136692;15213228;1522213;15365997;15458386;15501818;15576474;15647514;15714521;15773042;15791924;15845354;15986423;16147865;16229686;16230343;16237198;16263699;1634229;16478472;16517606;16538002;16595074;16698036;1670590;1678251;16941474;17105727;17123352;1718266;1720305;17309651;1740330;1756715;17661814;17664528;1794986;1840600;18524657;18632803;1889421;1907800;1909089;1915858;19159218;19224584;1928092;19405096;1946389;19472408;19797320;19836391;19889881;2001789;20068231;20232353;20728381;21081508;2111707;2122463;22128166;22692205;22940367;235289;23650620;239890;24190977;24715725;24737316;2511208;25502872;25576301;2562955;25880248;25892735;25936995;26992070;2717620;27920218;28126847;28218747;28467828;28510447;28649982;28832583;28834231;28904123;29242379;29317506;29393594;29437277;29443946;29508533;29557506;2960521;29632711;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29769354;29802621;3014515;30192525;30315122;3048308;30573663;30779550;3084261;3134052;3136930;3143362;31495489;3158659;31844290;31848261;3196333;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33043033;33298915;33392160;33592498;33803589;33912179;33939265;33968037;34019948;34087483;34357683;34433824;34561969;3456607;3468507;34725712;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36674426;36675156;37074911;37938771;38665916;39940;5135907;5164093;527942;5822067;7213753;7252518;738706;7504405;7559389;7586649;7628016;7730378;7744740;7852280;8198123;8200356;8213816;8213840;8281145;8333853;8370580;8383699;8399327;8573994;8591035;8611500;8631981;8663398;8692836;8804427;8889578;8920913;8922281;8955159;8985184;9010752;9054950;9199191;9203065;9217013;9223416;9338580;9497360;9520418;9521684;9822625;9826427", "class_list": "glycogene;glycosylhydrolase", "function": "Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Different Stages of Quiescence, Senescence, and Cell Stress Identified by Molecular Algorithm Based on the Expression of Ki67, RPS6, and Beta-Galactosidase Activity. Publication Status: Online-Only, [RefSeq, PubMed]; Has no beta-galactosidase catalytic activity, but plays functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue. Seems to be identical to the elastin-binding protein (EBP), a major component of the non-integrin cell surface receptor expressed on fibroblasts, smooth muscle cells, chondroblasts, leukocytes, and certain cancer cell types. In elastin producing cells, associates with tropoelastin intracellularly and functions as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers., [UniProtKB, PubMed, PubMed]; Higher Oxidative Stress in Endometriotic Lesions Upregulates Senescence-Associated p16[ink4a] and beta-Galactosidase in Stromal Cells. Publication Status: Online-Only, [RefSeq, PubMed]; P53 Regulates Mitochondrial Dynamics in Vascular Smooth Muscle Cell Calcification. Publication Status: Online-Only, [RefSeq, PubMed]; Senescence-associated beta-galactosidase reveals the abundance of senescent CD8+ T cells in aging humans., [RefSeq, PubMed]; This gene encodes a member of the glycosyl hydrolase 35 family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature lysosomal enzyme. This enzyme catalyzes the hydrolysis of a terminal beta-linked galactose residue from ganglioside substrates and other glycoconjugates. Mutations in this gene may result in GM1-gangliosidosis and Morquio B syndrome. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 198, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 82, "disease_count": 7, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2R7H8;B7Z6B0;P16279", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.13.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.-", "type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0016936 galactoside binding;GO:0004565 beta-galactosidase activity;GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006689 ganglioside catabolic process;GO:0005975 carbohydrate metabolic process;GO:0019388 galactose catabolic process;GO:0042340 keratan sulfate proteoglycan catabolic process;GO:0051413 response to cortisone", "synthesized_glycan_count": 0, "hit_score": 35.7, "record_id": "P16278-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBN7-1", "uniprot_id": [ { "id": "HDAC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBN7", "type": "external" } ], "mass": 131419.0, "length": 1215, "protein_name": "Protein deacetylase HDAC6", "gene_name": "HDAC6", "organism": "Human", "refseq_name": "protein deacetylase HDAC6 isoform b", "refseq_ac": [ { "id": "NP_001308155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308155", "type": "external" } ], "gene_names_uniprotkb": "HDAC6; JM21; KIAA0901", "gene_names_refseq": "CPBHM; HD6; HDAC6; JM21; KDAC6; PPP1R90", "protein_names_uniprotkb": "Protein deacetylase HDAC6; 2.3.2.-; 3.5.1.-; E3 ubiquitin-protein ligase HDAC6; Tubulin-lysine deacetylase HDAC6", "protein_names_refseq": "E3 ubiquitin-protein ligase HDAC6; alpha-tubulin deacetylase HDAC6; protein deacetylase HDAC6 isoform b; protein deacetylase HDAC6; protein phosphatase 1, regulatory subunit 90; tubulin-lysine deacetylase HDAC6", "tax_id": 9606, "disease": "polycystic liver disease 1 (Disease Ontology:DOID:0060980); polycystic kidney disease (Disease Ontology:DOID:0080322); chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (Disease Ontology:DOID:0112106); hypertension (Disease Ontology:DOID:10763); Parkinson's disease (Disease Ontology:DOID:14330); cholangiocarcinoma (Disease Ontology:DOID:4947); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10013); (R-HSA-2122947); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3371511); (R-HSA-350054); (R-HSA-5620920); (R-HSA-8878166); (R-HSA-8940973); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9646399); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 224, "publication_id_list": "10.1101/2023.09.13.557529;10089880;10206645;10220385;10491388;10713164;10879540;10882063;10964718;11006133;11044625;11082038;11106645;11112321;11237011;11461910;11533236;11545733;11585921;11740940;11857736;11948178;12024216;12032081;12050117;12209127;12231506;12354787;12354939;12374742;12391150;12391164;12434152;12434156;12529404;12530964;12620231;14675537;14765127;14980219;15030764;15107403;15302935;15546612;15574878;15702990;15760269;15824097;15829515;16025100;16093323;16099986;16256737;16407259;16530044;16530045;16738328;16751105;16751179;16964243;17003037;17084703;17114293;17142326;17157496;17171635;17287340;17401372;17516032;17604723;17646408;17646409;17785525;17846173;17872950;18043734;18077452;18094723;18180281;18223689;18296446;18374649;18477452;18606987;18644871;18824583;18824585;19033385;19081074;19144722;19151708;19389811;19524514;19726682;19801668;19823565;19893491;20029029;20102703;20181727;20308065;20520769;20603001;20686481;20797626;20829795;20877012;20972443;21068373;21173110;21238931;21282471;21486957;21913213;2204156;22065775;22544321;22896792;23071318;23093407;23186163;23301498;23515720;24089523;24097348;24200693;24275569;24413532;24687993;24715725;24850862;24882211;24906155;25422469;25645385;25865393;25961502;26080397;26118642;26154972;26246421;26811146;26967290;26992070;27797343;27862975;2799391;28904123;29557506;29626215;30315122;30410026;30443180;30484775;30538141;30770470;30779550;30796923;30909412;31020640;31154438;31217245;31505170;31844290;31848261;31857589;32157095;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34509645;35051231;35318648;35580925;36010968;36240223;36241641;38334007;38534334;38646645;38747592;38869827;39135075;39174882;39567688;7566092;7588063;7891679;8001118;8065924;8455624;8649374;8662539;8687460;9038169;9151685;9182762;9182764;9207800;9244301;9315665;9427680;9462510;9604939;9620803;9651681;9694793;9727490;9819428;9864362", "class_list": "", "function": "(Microbial infection) Deacetylates the SARS-CoV-2 N protein which promotes association of the viral N protein with human G3BP1, leading to disruption of cellular stress granule formation and facilitating viral replication., [UniProtKB, PubMed]; Deacetylates a wide range of non-histone substrates (PubMed:12024216, PubMed:18606987, PubMed:20308065, PubMed:24882211, PubMed:26246421, PubMed:30538141, PubMed:31857589, PubMed:30770470, PubMed:38534334, PubMed:39567688). Plays a central role in microtubule-dependent cell motility by mediating deacetylation of tubulin (PubMed:12024216, PubMed:20308065, PubMed:26246421). Required for cilia disassembly via deacetylation of alpha-tubulin (PubMed:17604723, PubMed:26246421). Alpha-tubulin deacetylation results in destabilization of dynamic microtubules (By similarity). Promotes deacetylation of CTTN, leading to actin polymerization, promotion of autophagosome-lysosome fusion and completion of autophagy (PubMed:30538141). Deacetylates SQSTM1 (PubMed:31857589). Deacetylates peroxiredoxins PRDX1 and PRDX2, decreasing their reducing activity (PubMed:18606987). Deacetylates antiviral protein RIGI in the presence of viral mRNAs which is required for viral RNA detection by RIGI (By similarity). Sequentially deacetylates and polyubiquitinates DNA mismatch repair protein MSH2 which leads to MSH2 degradation, reducing cellular sensitivity to DNA-damaging agents and decreasing cellular DNA mismatch repair activities (PubMed:24882211). Deacetylates DNA mismatch repair protein MLH1 which prevents recruitment of the MutL alpha complex (formed by the MLH1-PMS2 heterodimer) to the MutS alpha complex (formed by the MSH2-MSH6 heterodimer), leading to tolerance of DNA damage (PubMed:30770470). Deacetylates RHOT1/MIRO1 which blocks mitochondrial transport and mediates axon growth inhibition (By similarity). Deacetylates transcription factor SP1 which leads to increased expression of ENG, positively regulating angiogenesis (PubMed:38534334). Deacetylates KHDRBS1/SAM68 which regulates alternative splicing by inhibiting the inclusion of CD44 alternate exons (PubMed:26080397). Deacetylates PRDM16 (By similarity). Acts as a valine sensor by binding to valine through the primate-specific SE14 repeat region (PubMed:39567688). In valine deprivation conditions, translocates from the cytoplasm to the nucleus where it deacetylates TET2 which promotes TET2-dependent DNA demethylation, leading to DNA damage (PubMed:39567688). Promotes odontoblast differentiation following IPO7-mediated nuclear import and subsequent repression of RUNX2 expression (By similarity). In addition to its protein deacetylase activity, plays a key role in the degradation of misfolded proteins: when misfolded proteins are too abundant to be degraded by the chaperone refolding system and the ubiquitin-proteasome, mediates the transport of misfolded proteins to a cytoplasmic juxtanuclear structure called aggresome (PubMed:17846173). Probably acts as an adapter that recognizes polyubiquitinated misfolded proteins and targets them to the aggresome, facilitating their clearance by autophagy (PubMed:17846173). Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer (PubMed:24413532)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; HDAC6 Inhibition Releases HR23B to Activate Proteasomes, Expand the Tumor Immunopeptidome and Amplify T-cell Antimyeloma Activity., [RefSeq, PubMed]; HDAC6-dependent deacetylation of NGF dictates its ubiquitination and maintains primordial follicle dormancy. Publication Status: Online-Only, [RefSeq, PubMed]; HDAC6-mediated deacetylation of FLOT2 maintains stability and tumorigenic function of FLOT2 in nasopharyngeal carcinoma., [RefSeq, PubMed]; HTRA1 promotes EMT through the HDAC6/Ac-alpha-tubulin pathway in human GBM cells., [RefSeq, PubMed]; Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains which appear to function independently of each other. This protein possesses histone deacetylase activity and represses transcription. [provided by RefSeq, Jul 2008]., [RefSeq]; Regulation of STAT1 Signaling in Human Pancreatic beta-Cells by the Lysine Deacetylase HDAC6: A New Therapeutic Opportunity in Type 1 Diabetes?, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O94975;Q6NT75;Q7L3E5;Q96CY0", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.5.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.48", "type": "external" }, { "id": "3.5.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.62", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.5.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.124", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0008017 microtubule binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0031593 polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006886 intracellular protein transport;GO:0010506 regulation of autophagy;GO:1903146 regulation of autophagy of mitochondrion;GO:0016241 regulation of macroautophagy", "synthesized_glycan_count": 0, "hit_score": 22.9, "record_id": "Q9UBN7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29692-1", "uniprot_id": [ { "id": "EF1D_HUMAN", "url": "https://www.uniprot.org/uniprot/P29692", "type": "external" } ], "mass": 31122.0, "length": 281, "protein_name": "Elongation factor 1-delta", "gene_name": "EEF1D", "organism": "Human", "refseq_name": "elongation factor 1-delta isoform 2", "refseq_ac": [ { "id": "NP_001123527", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123527", "type": "external" } ], "gene_names_uniprotkb": "EEF1D; EF1D", "gene_names_refseq": "EEF1D; EF-1D; EF1D; FP1047; NEDTCHAL", "protein_names_uniprotkb": "Elongation factor 1-delta; Antigen NY-CO-4; EF-1-delta", "protein_names_refseq": "EF-1-delta; antigen NY-CO-4; elongation factor 1-delta isoform 2; elongation factor 1-delta; eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)", "tax_id": 9606, "disease": "congenital myasthenic syndrome 9 (Disease Ontology:DOID:0110670); fetal akinesia deformation sequence syndrome 1 (Disease Ontology:DOID:0111377); myasthenia gravis (Disease Ontology:DOID:437); neurodevelopmental disorder with thin corpus callosum, hypotonia, and absent language (MONDO:MONDO:0976263)", "pathway": " (hsa:1936); (R-HSA-156842)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10368288;11237011;12551973;16807684;17081983;17287340;17487921;17693683;17924679;18212344;18220336;18318008;18452278;18491316;18669648;18691976;18767875;19367720;19369195;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068230;20068231;20166139;20230923;20964681;21406692;21597468;21936567;22223895;22898188;23186163;23481700;24275569;24715725;25418920;25502872;25576301;25802875;26154972;26375851;26929215;26992070;27920218;28063628;28097321;28218747;28228285;28832583;28904123;29242379;29314611;29331515;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30787422;31217245;31844290;32157095;32265295;32350084;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34357683;34561969;34725712;35051231;35138101;35154160;35251023;35318648;36010968;36215666;36284347;36576126;37217939;38083972;38332912;38665916;38771720;39990658;40914422;8168075;8334168;9610721;9677419", "class_list": "", "function": "Autoantibodies against eukaryotic translation elongation factor 1 delta in two patients with autoimmune cerebellar ataxia. Publication Status: Online-Only, [RefSeq, PubMed]; EEF1D stabilized by SRSF9 promotes colorectal cancer via enhancing the proliferation and metastasis., [RefSeq, PubMed]; EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP, regenerating EF-1-alpha for another round of transfer of aminoacyl-tRNAs to the ribosome., [UniProtKB]; Regulates induction of heat-shock-responsive genes through association with heat shock transcription factors and direct DNA-binding at heat shock promoter elements (HSE)., [UniProtKB]; This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDU4;D3DWK3;E9PBQ9;Q4VBZ6;Q969J1;Q96I38", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0031072 heat shock protein binding;GO:0045296 cadherin binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0034605 cellular response to heat;GO:0071479 cellular response to ionizing radiation;GO:0006414 translational elongation", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "P29692-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50993-1", "uniprot_id": [ { "id": "AT1A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P50993", "type": "external" } ], "mass": 112265.0, "length": 1020, "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-2", "gene_name": "ATP1A2", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit alpha-2 precursor", "refseq_ac": [ { "id": "NP_000693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000693", "type": "external" } ], "gene_names_uniprotkb": "ATP1A2; KIAA0778", "gene_names_refseq": "ATP1A2; DEE98; FARIMPD; FHM2; MHP2", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit alpha-2; 7.2.2.13; Na(+)/K(+) ATPase alpha-2 subunit; Sodium pump subunit alpha-2", "protein_names_refseq": "ATPase Na+/K+ transporting alpha 2 polypeptide; Na(+)/K(+) ATPase alpha-2 subunit; Na+/K+ ATPase, alpha-A(+) catalytic polypeptide; Na+/K+ ATPase, alpha-B polypeptide; sodium pump subunit alpha-2; sodium-potassium ATPase catalytic subunit alpha-2; sodium/potassium-transporting ATPase alpha-2 chain; sodium/potassium-transporting ATPase subunit alpha-2 precursor; sodium/potassium-transporting ATPase subunit alpha-2", "tax_id": 9606, "disease": "alternating hemiplegia of childhood (Disease Ontology:DOID:0050635); familial hemiplegic migraine (Disease Ontology:DOID:0060178); developmental and epileptic encephalopathy 98 (Disease Ontology:DOID:0070384); familial hemiplegic migraine 2 (Disease Ontology:DOID:0111182); Charcot-Marie-Tooth disease type 2DD (Disease Ontology:DOID:0111558); migraine with aura (Disease Ontology:DOID:10024); hypertension (Disease Ontology:DOID:10763); benign neonatal seizures (Disease Ontology:DOID:14264); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); nervous system disease (Disease Ontology:DOID:863); hyperhomocysteinemia (Disease Ontology:DOID:9279); fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (MONDO:MONDO:0859204)", "pathway": " (hsa:477); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 136, "publication_id_list": "10087012;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11237011;11904675;12119109;12539047;12832055;12953268;14667076;15174025;15260953;15286158;15598648;15754088;15831496;15919184;15925480;16115318;16182249;16522641;1656976;16700898;16754674;1693919;17224452;17357072;17486119;17662961;18669648;18723824;18995841;19278978;19345671;19751721;19878721;20068231;20223979;20388710;21108950;21352219;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22972900;23196729;23362265;23549614;23610579;23641311;23838748;23918834;24272870;2430951;24392018;24584101;24714562;2477373;2537767;2559024;25801024;25994790;26002965;26992070;27067231;27090790;27864847;2838329;28425720;28645727;28904123;29351928;29493099;2953725;29557506;29945920;30201761;30315122;3035563;3036582;30410026;30690204;30779550;31048504;31092671;31154438;31222486;31608932;31937595;32350084;32502341;33043033;33141586;33298915;33392160;33592498;33880529;33968037;34087483;34092402;34171305;34384358;34561969;35051231;35154160;35257835;35561310;35580925;37142513;38512072;6328127;6832622;7626145;7702581;7711835;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients., [RefSeq, PubMed]; Catalytic subunit of the Na(+)/K(+)-ATPase that hydrolyzes ATP to exchange ions across the plasma membrane, exporting 3 Na(+) and importing 2 K(+) per cycle (PubMed:33880529). It undergoes ATP-driven conformational changes that allow alternating binding and release of Na(+) and K(+) ions across the membrane (By similarity). This process maintains essential Na(+) and K(+) gradients for membrane potential and cellular function (PubMed:33880529)., [UniProtKB, PubMed, UniProtKB]; Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms. Publication Status: Online-Only, [RefSeq, PubMed]; Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant., [RefSeq, PubMed]; Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases., [RefSeq, PubMed]; The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]., [RefSeq]; This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DVE4;Q07059;Q5JW74;Q86UZ5;Q9UQ25", "ec_number_list": [ { "id": "7.2.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.13", "type": "external" }, { "id": "7.2.2.19", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.19", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046982 protein heterodimerization activity;GO:0051087 protein-folding chaperone binding;GO:0016887 ATP hydrolysis activity;GO:0005496 steroid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0035094 response to nicotine;GO:0002087 regulation of respiratory gaseous exchange by nervous system process;GO:0098655 monoatomic cation transmembrane transport;GO:0006883 intracellular sodium ion homeostasis;GO:0010996 response to auditory stimulus", "synthesized_glycan_count": 0, "hit_score": 13.9, "record_id": "P50993-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H019-1", "uniprot_id": [ { "id": "MFR1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H019", "type": "external" } ], "mass": 31957.0, "length": 292, "protein_name": "Mitochondrial fission regulator 1-like", "gene_name": "MTFR1L", "organism": "Human", "refseq_name": "mitochondrial fission regulator 1-like isoform a", "refseq_ac": [ { "id": "NP_001093095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093095", "type": "external" } ], "gene_names_uniprotkb": "MTFR1L; FAM54B; HYST1888; MSTP116", "gene_names_refseq": "FAM54B; HYST1888; MST116; MSTP116; MTFR1L", "protein_names_uniprotkb": "Mitochondrial fission regulator 1-like", "protein_names_refseq": "family with sequence similarity 54 member B; mitochondrial fission regulator 1-like isoform a; protein FAM54B", "tax_id": 9606, "disease": "", "pathway": " (hsa:56181)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;15221005;18212344;18669648;19664995;19690332;20058876;20068231;20166139;20230923;21406692;23186163;23301498;28063628;29393594;29632046;31154438;31844290;31848261;32350084;32387766;32983136;33298915;33592498;33968037;35580925;36241641;36367943", "class_list": "", "function": "Mitochondrial protein required for adaptation of miochondrial dynamics to metabolic changes. Regulates mitochondrial morphology at steady state and mediates AMPK-dependent stress-induced mitochondrial fragmentation via the control of OPA1 levels., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mitochondrial protein required for adaptation of mitochondrial dynamics to metabolic changes. Regulates mitochondrial morphology at steady state and mediates AMPK-dependent stress-induced mitochondrial fragmentation via the control of OPA1 levels., [UniProtKB, PubMed]; Plays a role in mitochondrial aerobic respiration. Regulates mitochondrial organization and fission., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NCB4;B7WNV5;D3DPJ4;Q63HP1;Q7Z2S7;Q9NUI7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0000266 mitochondrial fission;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9H019-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00736-1", "uniprot_id": [ { "id": "C1R_HUMAN", "url": "https://www.uniprot.org/uniprot/P00736", "type": "external" } ], "mass": 80119.0, "length": 705, "protein_name": "Complement C1r subcomponent", "gene_name": "C1R", "organism": "Human", "refseq_name": "complement C1r subcomponent isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001724", "type": "external" } ], "gene_names_uniprotkb": "C1R", "gene_names_refseq": "C1R; EDS8; EDSPD1", "protein_names_uniprotkb": "Complement C1r subcomponent; 3.4.21.41; Complement C1r subcomponent chain A; Complement C1r subcomponent chain B; Complement component 1 subcomponent r", "protein_names_refseq": "complement C1r subcomponent isoform 1 preproprotein; complement C1r subcomponent; complement component 1, r subcomponent", "tax_id": 9606, "disease": "Ehlers-Danlos syndrome periodontal type 1 (Disease Ontology:DOID:0080986); complement component C1r/C1s deficiency (MONDO:MONDO:0009005)", "pathway": " (hsa:715); (R-HSA-166663); (R-HSA-173623); (R-HSA-977606)", "pathway_count": 4, "publication_count": 128, "publication_id_list": "10531307;1067618;10925294;11237011;11445589;11673533;11694537;11823416;11939578;12055245;12396008;12429092;1249422;12914573;1386357;14280442;15199963;16079145;16192651;16335952;16999828;17182573;17505110;17996945;19159218;19473974;20178990;21081667;21788512;22028381;22802338;23487775;24190977;2420889;24279413;2465906;2466593;2481448;25576301;27452731;27726376;27745832;28104818;2820791;2831944;29242379;29311313;293688;293746;29391424;29449492;29557506;2956252;29671580;2971659;29741879;29786170;29789417;2988513;2989825;301546;3021205;3030286;3036070;30429286;31154438;31844290;31848261;32157095;32373127;32938616;32983136;33091337;33592498;33912179;33968037;34155115;34171305;34756877;35051231;35154160;35318648;35365885;35459695;35580925;35726234;36284347;37074911;37938771;38407963;3848661;38665916;4098172;6019133;6214588;6219696;6222381;6230668;6238120;6254570;6271784;6303394;6334079;6454142;6607952;670886;6906228;6952210;702059;70787;7391570;7391573;7542572;760802;761607;7690834;7691959;814163;8162045;8345200;8495193;8538770;8635594;869924;8786315;9038722;9477945;978134", "class_list": "", "function": "A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R., [RefSeq, PubMed]; C1R, CCL2, and TNFRSF1A Genes in Coronavirus Disease-COVID-19 Pathway Serve as Novel Molecular Biomarkers of GBM Prognosis and Immune Infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; C1r Upregulates Production of Matrix Metalloproteinase-13 and Promotes Invasion of Cutaneous Squamous Cell Carcinoma., [RefSeq, PubMed]; Serine protease component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system. C1R catalyzes the first enzymatic step in the classical complement pathway: it is activated by the C1Q subcomplex of the C1 complex, which associates with IgG or IgM immunoglobulins complexed with antigens to form antigen-antibody complexes on the surface of pathogens. Immunoglobulin-binding promotes the autocatalytic cleavage and activation of C1R. Activated C1R then cleaves and activates C1S, the second protease of the classical complement pathway. It is unclear if C1R activates C1S within single, strained C1 complexes or between neighboring C1 complexes on surfaces., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Tandem Mass Tag-Labeled Quantitative Proteome Analyses Identify C1R and A2M as Novel Serum Biomarkers in Pregnant Women with Obstructive Sleep Apnea., [RefSeq, PubMed]; This gene encodes a member of the peptidase S1 protein family. The encoded protein is a proteolytic subunit in the complement system C1 complex. The complement system acts as a mediator in the innate immune response by ultimately triggering phagocytosis, inflammation, and rupturing the bacterial cell wall. Mutations in this gene are associated with Ehlers-Danlos Syndrome. [provided by RefSeq, Dec 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 2, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 60, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NJQ8;Q68D77;Q8J012", "ec_number_list": [ { "id": "3.4.21.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.41", "type": "external" }, { "id": "3.4.21.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.42", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0008236 serine-type peptidase activity;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0072562 blood microparticle", "go_biological_process": "GO:0006955 immune response;GO:0045087 innate immune response;GO:0031638 zymogen activation;GO:0006958 complement activation, classical pathway;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 19.4, "record_id": "P00736-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXE1-1", "uniprot_id": [ { "id": "ATRIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXE1", "type": "external" } ], "mass": 85838.0, "length": 791, "protein_name": "ATR-interacting protein", "gene_name": "ATRIP", "organism": "Human", "refseq_name": "ATR-interacting protein isoform 3", "refseq_ac": [ { "id": "NP_001257951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257951", "type": "external" } ], "gene_names_uniprotkb": "ATRIP; AGS1", "gene_names_refseq": "ATRIP", "protein_names_uniprotkb": "ATR-interacting protein; ATM and Rad3-related-interacting protein", "protein_names_refseq": "ATM and Rad3-related-interacting protein; ATR-interacting protein isoform 3", "tax_id": 9606, "disease": "Seckel syndrome (Disease Ontology:DOID:0050569)", "pathway": " (hsa:84126); (R-HSA-176187); (R-HSA-5685938); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6783310); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 9, "publication_count": 268, "publication_id_list": "10051570;10212258;10373362;10373512;10435622;10438626;10500146;10551859;10570149;10570174;10604467;10673500;10673501;10710310;10733923;10744977;10777662;10827953;10859164;10884347;10921897;11080452;11139606;11237011;11239454;11239457;11301010;11376695;11390642;11447225;11511362;11546806;11551930;11571269;11698410;11721054;11740489;11751635;11780126;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12399544;12545175;12578958;12676583;12676925;12702766;12750383;12759351;12791985;12851404;12914926;12963847;14500360;14576433;14603323;14605214;14624239;14702041;14724280;14734547;15053879;15189136;15190204;15226314;15359272;15451423;15485900;15572677;15665856;15703751;15707391;15743907;15758953;15833913;15866171;16148040;16153896;16322561;16327781;16360315;16407120;16530042;16885023;16916645;16943440;17108107;17289582;17349958;17412408;17460694;17515903;17575048;17591690;17616665;17638878;17928296;17938197;17962301;17965729;18082604;18171670;18174376;18283122;18317453;18452278;18480045;18490454;18539610;18541667;18669648;18691976;18757400;18805091;18923075;18931676;18971343;19111657;19121998;19357644;19419957;19561358;19589784;19596236;19651622;19664995;19889979;19965871;19995904;20068231;20102227;20154705;20233725;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;20729832;20729858;20729859;20959462;20965415;21052091;21240188;21263215;21317932;21325134;21335604;21464321;21565612;21659603;21680713;21701511;21764741;21777809;21804533;22021381;22024395;22194698;22231403;22258451;22287633;22396592;22510687;22635276;22661229;22661230;22692201;22792074;22977173;23000554;23149936;23325218;23345434;23468639;23481700;23485397;23676219;23698467;23723247;23810717;24013206;24076221;24145406;24389026;24623813;24726325;24874608;24905007;25113031;25122754;25430771;25500724;25558984;25576301;25645385;25659039;26145171;26375851;26992070;27600516;27846572;27920218;28228285;28411811;28514659;28649982;28832583;28904123;29242379;29393594;29493099;29557506;30315122;30524438;30833945;31154438;31530632;31844290;31998317;32157095;32161166;32350084;32357974;32387766;32897882;32938616;33110058;33298915;33537174;33592498;33936100;33968037;33978741;34087483;34171305;34357683;34405274;34440403;34509645;34561969;34932366;35051231;35580925;36010968;36172813;36977412;38253038;8196638;8702565;8943031;9278511;9278512;9705271;9837724;9925639", "class_list": "", "function": "ATRIP protects progenitor cells against DNA damage in vivo. Erratum:[Cell Death Dis. 2020 Dec 15;11(12):1074. doi: 10.1038/s41419-020-03227-w. PMID: 33323930] Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that RPA-coated ssDNA is the critical structure at sites of DNA damage that recruits the ATR-ATRIP complex and facilitates its recognition of substrates for phosphorylation and the initiation of checkpoint signaling, [RefSeq, PubMed]; Required for checkpoint signaling after DNA damage. Required for ATR expression, possibly by stabilizing the protein., [UniProtKB, PubMed]; There are at least two in vitro ATR-ATRIP DNA binding complexes, one which binds DNA with high affinity in an RPA-dependent manner and a second, which binds DNA with lower affinity in an RPA-independent manner, [RefSeq, PubMed]; This gene encodes an essential component of the DNA damage checkpoint. The encoded protein binds to single-stranded DNA coated with replication protein A. The protein also interacts with the ataxia telangiectasia and Rad3 related protein kinase, resulting in its accumulation at intranuclear foci induced by DNA damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]., [RefSeq]; Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K6A3;A8K714;B2RCE7;B4DU92;B5MEB7;Q69YK9;Q8NHQ2;Q8WUG7;Q96CL3;Q9HA30", "ec_number_list": [], "go_molecular_function": "GO:0070530 K63-linked polyubiquitin modification-dependent protein binding;GO:0004527 exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0006139 nucleobase-containing compound metabolic process;GO:0000077 DNA damage checkpoint signaling;GO:2000779 regulation of double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 27.5, "record_id": "Q8WXE1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13227-1", "uniprot_id": [ { "id": "GPS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13227", "type": "external" } ], "mass": 36689.0, "length": 327, "protein_name": "G protein pathway suppressor 2", "gene_name": "GPS2", "organism": "Human", "refseq_name": "G protein pathway suppressor 2", "refseq_ac": [ { "id": "NP_004480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004480", "type": "external" } ], "gene_names_uniprotkb": "GPS2", "gene_names_refseq": "AMF-1; GPS2", "protein_names_uniprotkb": "G protein pathway suppressor 2; GPS-2", "protein_names_refseq": "G protein pathway suppressor 2; GPS-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:2874); (R-HSA-1989781); (R-HSA-3214815); (R-HSA-9022537); (R-HSA-9022692); (R-HSA-9029569); (R-HSA-9609690); (R-HSA-9841922)", "pathway_count": 8, "publication_count": 193, "publication_id_list": "10425206;10444591;10449787;10558993;10748112;10777541;10835357;10858438;10882139;10904264;10922406;10926844;11027271;11149950;11237011;11267664;11500512;11509652;11604492;11739383;11742974;11875109;11909966;11931768;12032151;12032298;12118000;12150943;12177166;12454263;12505311;12582161;12612088;12724404;12829629;12857923;1310260;14703507;14764426;15067378;15130092;15147902;15322089;15635043;16140760;16380219;16972786;17046689;17186944;17211407;17761950;17994015;18203656;18535146;18540824;18719978;18782758;18848529;19043829;19088433;19172745;19225110;19331822;19481530;19682613;19710929;19820693;19858209;19917673;19934321;20110263;20159957;20466882;20466885;20494359;20566875;20855588;21187453;21240272;21310851;21507939;21587264;21690215;22174689;22541735;22666460;22673513;22869377;23481700;23496987;23519696;23770565;23770587;23790976;24129315;24196956;24223774;24714562;24715725;24943844;25576301;25880248;26101246;26239616;26572645;26728094;26984517;26992070;27270589;27460081;27501258;27600516;27846572;28063628;28082258;28228285;28415052;28657654;28832583;28834231;28842423;28869506;28904123;29242379;29393594;29493099;29499132;29508533;29557506;29632046;29632711;29772548;29786170;30059200;30360396;30379171;30484775;30761409;30833945;31092671;31154438;31217245;31492838;31844290;31848261;31998317;32157095;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33329381;33592498;33691108;33717175;33936100;33968037;34019948;34171305;34211107;34609770;34932366;35051231;35254053;35580925;36010968;36241641;36284347;38814500;39116501;39534244;40307207;40596516;7513682;7685352;7892212;8521497;8521498;8647822;8943324;9012850;9065481;9150135;9171241;9620804;9651585;9744270;9748239;9790534", "class_list": "", "function": "(Microbial infection) Required for efficient replication of hepatitis C virus (HCV) by promoting the interaction between VAPA and HCV virus protein NS5A., [UniProtKB, PubMed]; G protein pathway suppressor 2 suppresses gastric cancer by destabilizing epidermal growth factor receptor. Erratum:[Cancer Sci. 2025 Jan;116(1):279. doi: 10.1111/cas.16391. PMID: 39500631], [RefSeq, PubMed]; GPS2 promotes erythroid differentiation in K562 erythroleukemia cells primarily via NCOR1., [RefSeq, PubMed]; Key regulator of inflammation, lipid metabolism and mitochondrion homeostasis that acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, thereby inhibiting 'Lys-63'-linked ubiquitination (By similarity). In the nucleus, can both acts as a corepressor and coactivator of transcription, depending on the context (PubMed:24943844). Acts as a transcription coactivator in adipocytes by promoting the recruitment of PPARG to promoters: acts by inhibiting the activity of the ubiquitin-conjugating enzyme UBE2N/Ubc13, leading to stabilization of KDM4A and subsequent histone H3 'Lys-9' (H3K9) demethylation (By similarity). Promotes cholesterol efflux by acting as a transcription coactivator (PubMed:19481530). Acts as a regulator of B-cell development by inhibiting UBE2N/Ubc13, thereby restricting the activation of Toll-like receptors (TLRs) and B-cell antigen receptors (BCRs) signaling pathways (By similarity). Acts as a key mediator of mitochondrial stress response: in response to mitochondrial depolarization, relocates from the mitochondria to the nucleus following desumoylation and specifically promotes expression of nuclear-encoded mitochondrial genes (PubMed:29499132). Promotes transcription of nuclear-encoded mitochondrial genes by inhibiting UBE2N/Ubc13 (PubMed:29499132). Can also act as a corepressor as part of the N-Cor repressor complex by repressing active PPARG (PubMed:19858209, PubMed:24943844). Plays an anti-inflammatory role in macrophages and is required for insulin sensitivity by acting as a corepressor (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by interacting with sumoylated NR1H2 and NR5A2 proteins, thereby preventing N-Cor corepressor complex dissociation (PubMed:20159957). In the cytosol, also plays a non-transcriptional role by regulating insulin signaling and pro-inflammatory pathways (By similarity). In the cytoplasm, acts as a negative regulator of inflammation by inhibiting the pro-inflammatory TNF pathway; acts by repressing UBE2N/Ubc13 activity (By similarity). In the cytoplasm of adipocytes, restricts the activation of insulin signaling via inhibition of UBE2N/Ubc13-mediated ubiquitination of AKT (By similarity). Able to suppress G protein- and mitogen-activated protein kinase-mediated signal transduction (PubMed:8943324). Acts as a tumor-suppressor in liposarcoma (PubMed:27460081)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Regulation mechanism of GPS2 on PGC-1alpha/Drp1-mediated mitochondrial dynamics in inflammation of acute lung injury., [RefSeq, PubMed]; This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DXA1;Q6FHM8", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003714 transcription corepressor activity;GO:0005095 GTPase inhibitor activity;GO:0003712 transcription coregulator activity;GO:0030332 cyclin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010875 positive regulation of cholesterol efflux;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 19.8, "record_id": "Q13227-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3C6-1", "uniprot_id": [ { "id": "ATG9A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3C6", "type": "external" } ], "mass": 94447.0, "length": 839, "protein_name": "Autophagy-related protein 9A", "gene_name": "ATG9A", "organism": "Human", "refseq_name": "autophagy-related protein 9A", "refseq_ac": [ { "id": "NP_001070666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070666", "type": "external" } ], "gene_names_uniprotkb": "ATG9A; APG9L1", "gene_names_refseq": "APG9L1; ATG9A; MGD3208; mATG9", "protein_names_uniprotkb": "Autophagy-related protein 9A; APG9-like 1; mATG9", "protein_names_refseq": "APG9 autophagy 9-like 1; APG9-like 1; ATG9 autophagy related 9 homolog A; autophagy 9-like 1 protein; autophagy-related protein 9A", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:79065); (R-HSA-1632852); (R-HSA-5205685)", "pathway_count": 3, "publication_count": 145, "publication_id_list": "10.1101/2023.09.13.557529;11096062;11237011;11825910;15187094;15755735;16940348;16963840;17081983;17618624;18321988;18439900;18578522;18669648;18936157;19211835;19322194;19432818;19590496;19651622;19855179;19893488;19898463;19910472;20059746;20068231;20124090;20126261;20712405;20713597;20819778;20921139;21068542;21115803;21177865;21194381;21205641;21258367;21383122;21406692;21460621;21617041;21819378;22170151;22223895;22456507;22682742;22898188;23186163;23202584;23481700;23685627;23727157;23884233;24190977;24275569;24366607;24660806;24715725;24747438;24751536;24784582;24954904;25266655;25474007;25484072;25505266;25527497;25568151;25645385;26116755;26154972;26365381;26375851;26992070;27035970;27247382;27316455;27510922;27600516;27663665;27846572;27920218;27934868;28218747;28228285;28536105;28832583;28834231;28904123;29180427;29237092;29242379;29393594;29394115;29437695;29557506;29995846;30262884;30429286;30833945;30917996;31154438;31217245;31530632;31844290;32073997;32157095;32161166;32296703;32350084;32387766;32488085;32513819;32610138;32897882;32938616;33106659;33141586;33298915;33468622;33773106;33850023;33912179;33968037;34087483;34171305;34357683;34432599;34509645;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36284347;37405380;37782756;37938170;37938771;38228036;38287189;7628435", "class_list": "", "function": "ATG9A modulated by miR-195-5p can boost the malignant progression of cervical cancer cells., [RefSeq, PubMed]; ATG9B is a tissue-specific homotrimeric lipid scramblase that can compensate for ATG9A., [RefSeq, PubMed]; First demonstration that mammalian Atg9A, originally called mAtg9, is required for starvation-induced autophagy, and localizes to Golgi and endosomes., [RefSeq, PubMed]; In human adult tissues APG9L1 is ubiquitously expressed., [RefSeq, PubMed]; Manipulation of p38IP and p38alpha alters mAtg9 localization, suggesting p38alpha regulates, through p38IP, the starvation-induced mAtg9 trafficking to forming autophagosomes. GeneRIF: ATG9A was found by co-immunoprecipitation to interact with FAM48A/p38IP/q8NEM7.2., [RefSeq, PubMed]; NDRG1 overcomes resistance to immunotherapy of pancreatic ductal adenocarcinoma through inhibiting ATG9A-dependent degradation of MHC-1. Erratum:[Drug Resist Updat. 2025 Sep;82:101269. doi: 10.1016/j.drup.2025.101269. PMID: 40514267], [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Phospholipid scramblase involved in autophagy by mediating autophagosomal membrane expansion (PubMed:22456507, PubMed:27510922, PubMed:29437695, PubMed:32513819, PubMed:32610138, PubMed:33106659, PubMed:33468622, PubMed:33850023). Cycles between the preautophagosomal structure/phagophore assembly site (PAS) and the cytoplasmic vesicle pool and supplies membrane for the growing autophagosome (PubMed:16940348, PubMed:22456507, PubMed:33106659). Lipid scramblase activity plays a key role in preautophagosomal structure/phagophore assembly by distributing the phospholipids that arrive through ATG2 (ATG2A or ATG2B) from the cytoplasmic to the luminal leaflet of the bilayer, thereby driving autophagosomal membrane expansion (PubMed:33106659). Also required to supply phosphatidylinositol 4-phosphate to the autophagosome initiation site by recruiting the phosphatidylinositol 4-kinase beta (PI4KB) in a process dependent on ARFIP2, but not ARFIP1 (PubMed:30917996). In addition to autophagy, also plays a role in necrotic cell death (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Phospholipid scramblase involved in autophagy by mediating autophagosomal membrane expansion. Cycles between the preautophagosomal structure/phagophore assembly site (PAS) and the cytoplasmic vesicle pool and supplies membrane for the growing autophagosome. Lipid scramblase activity plays a key role in preautophagosomal structure/phagophore assembly by distributing the phospholipids that arrive through ATG2 (ATG2A or ATG2B) from the cytoplasmic to the luminal leaflet of the bilayer, thereby driving autophagosomal membrane expansion. Also required to supply phosphatidylinositol 4-phosphate to the autophagosome initiation site by recruiting the phosphatidylinositol 4-kinase beta (PI4KB) in a process dependent on ARFIP2, but not ARFIP1. In addition to autophagy, also plays a role in necrotic cell death., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Phospholipid scramblase involved in autophagy. Cycles between the preautophagosomal structure/phagophore assembly site (PAS) and the cytoplasmic vesicle pool and supplies membrane for the growing autophagosome. Lipid scramblase activity plays a key role in preautophagosomal structure/phagophore assembly by distributing the phospholipids that arrive through ATG2 from the cytoplasmic to the luminal leaflet of the bilayer, thereby driving autophagosomal membrane expansion., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Tracking the transition from an ATG9A vesicle to an autophagosome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q3ZAQ6;Q6P0N7;Q7Z317;Q7Z320;Q8NDK6;Q8WU65;Q9BVL5;Q9H6L1;Q9HAG7", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0017128 phospholipid scramblase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0034497 protein localization to phagophore assembly site;GO:0060349 bone morphogenesis;GO:0000423 mitophagy;GO:0034727 piecemeal microautophagy of the nucleus", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q7Z3C6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09493-1", "uniprot_id": [ { "id": "TPM1_HUMAN", "url": "https://www.uniprot.org/uniprot/P09493", "type": "external" } ], "mass": 32709.0, "length": 284, "protein_name": "Tropomyosin alpha-1 chain", "gene_name": "TPM1", "organism": "Human", "refseq_name": "tropomyosin alpha-1 chain isoform Tpm1.5cy", "refseq_ac": [ { "id": "NP_000357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000357", "type": "external" } ], "gene_names_uniprotkb": "TPM1; C15orf13; TMSA", "gene_names_refseq": "C15orf13; CMD1Y; CMH3; HEL-S-265; HTM-alpha; LVNC9; TMSA; TPM1", "protein_names_uniprotkb": "Tropomyosin alpha-1 chain; Alpha-tropomyosin; Tropomyosin-1", "protein_names_refseq": "cardiomyopathy, hypertrophic 3; epididymis secretory protein Li 265; sarcomeric tropomyosin kappa; tropomyosin alpha-1 chain isoform Tpm1.5cy; tropomyosin alpha-1 chain", "tax_id": 9606, "disease": "familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); hypertrophic cardiomyopathy 3 (Disease Ontology:DOID:0110309); dilated cardiomyopathy 1Y (Disease Ontology:DOID:0110457); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:7168); (R-HSA-390522); (R-HSA-445355)", "pathway_count": 3, "publication_count": 93, "publication_id_list": "10747208;10991994;11237011;11242081;11273725;11457814;11532985;11840567;11889009;12048254;12974739;14506282;14627618;15249230;15377279;156362;17055381;17895359;18974361;1930128;19380584;19608861;21551322;22421042;22778174;23170982;23271734;23834404;24275569;24715725;24872348;2526655;25576301;26362469;26873245;27452731;2764880;27679490;27726376;27920218;28228285;28741090;28832583;29242379;29393594;29557506;29632046;29786170;29789417;30429286;31154438;31217245;3138425;31844290;32157095;32897882;32938616;32983136;33043033;33214551;3336357;3336363;33592498;33912179;33968037;34509645;34561969;35008409;35051231;35154160;35243414;35251023;3548719;35561310;35580925;35857351;36010968;36284347;36555368;37217939;3780718;37938771;38665916;7898523;8205619;8450225;8523464;8858389;9481611;9598563;9600334;9822100;9855623", "class_list": "", "function": "Binds to actin filaments in muscle and non-muscle cells (PubMed:23170982). Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction (PubMed:23170982). Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments., [UniProtKB]; Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability. Publication Status: Online-Only, [RefSeq, PubMed]; Impact of Troponin in Cardiomyopathy Development Caused by Mutations in Tropomyosin. Publication Status: Online-Only, [RefSeq, PubMed]; MYC-Induced Upregulation of Lncrna ELFN1-AS1 Contributes to Tumor Growth in Colorectal Cancer via Epigenetically Silencing TPM1., [RefSeq, PubMed]; This gene is a member of the tropomyosin family of highly conserved, widely distributed actin-binding proteins involved in the contractile system of striated and smooth muscles and the cytoskeleton of non-muscle cells. Tropomyosin is composed of two alpha-helical chains arranged as a coiled-coil. It is polymerized end to end along the two grooves of actin filaments and provides stability to the filaments. The encoded protein is one type of alpha helical chain that forms the predominant tropomyosin of striated muscle, where it also functions in association with the troponin complex to regulate the calcium-dependent interaction of actin and myosin during muscle contraction. In smooth muscle and non-muscle cells, alternatively spliced transcript variants encoding a range of isoforms have been described. Mutations in this gene are associated with type 3 familial hypertrophic cardiomyopathy and dilated cardiomyopathy 1Y. [provided by RefSeq, Jun 2022]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5T7;D9YZV2;D9YZV3;D9YZV8;P09494;P10469;Q6DV89;Q6DV90;Q7Z6L8;Q86W64;Q96IK2;Q9UCI1;Q9UCI2;Q9UCY9;Q9Y427", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005200 structural constituent of cytoskeleton;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005884 actin filament;GO:0001725 stress fiber;GO:0030017 sarcomere", "go_biological_process": "GO:0003065 positive regulation of heart rate by epinephrine;GO:0007015 actin filament organization;GO:0045785 positive regulation of cell adhesion;GO:0030336 negative regulation of cell migration;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P09493-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00915-1", "uniprot_id": [ { "id": "CAH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P00915", "type": "external" } ], "mass": 28870.0, "length": 261, "protein_name": "Carbonic anhydrase 1", "gene_name": "CA1", "organism": "Human", "refseq_name": "carbonic anhydrase 1 isoform a", "refseq_ac": [ { "id": "NP_001122301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122301", "type": "external" } ], "gene_names_uniprotkb": "CA1", "gene_names_refseq": "CA-I; CA1; CAB; Car1; HEL-S-11", "protein_names_uniprotkb": "Carbonic anhydrase 1; 4.2.1.1; 4.2.1.69; CA-I; CAB; Carbonate dehydratase I; Carbonic anhydrase B; Carbonic anhydrase I; Cyanamide hydratase CA1", "protein_names_refseq": "carbonate dehydratase I; carbonic anhydrase 1 isoform a; carbonic anhydrase B; carbonic anhydrase I; cyanamide hydratase CA1; epididymis secretory protein Li 11; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); colitis (Disease Ontology:DOID:0060180); Graves ophthalmopathy (Disease Ontology:DOID:0081120); primary biliary cholangitis (Disease Ontology:DOID:12236); Sjogren's syndrome (Disease Ontology:DOID:12894); major depressive disorder (Disease Ontology:DOID:1470); viral hepatitis (Disease Ontology:DOID:1884); rheumatoid arthritis (Disease Ontology:DOID:7148); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:759); (R-HSA-1237044); (R-HSA-1247673); (R-HSA-1475029); (R-HSA-8950505)", "pathway_count": 5, "publication_count": 119, "publication_id_list": "10090333;10409679;10529219;10550681;10611283;11121027;11237011;11606574;11676494;12009884;120192;12754312;12933803;1311094;1395;14611844;14958;15131110;15299369;15501038;1554744;15858218;16006130;16038020;16302824;16506782;16563834;16686544;16807956;16870440;16992238;16994616;17012249;17127057;17228881;17314045;17377532;17407288;17427958;17499996;17712059;17761422;17990881;18162396;18294854;18618712;18703501;18984734;19186056;19206230;19273840;19668749;20162361;20230836;20349499;20493921;20578724;21041929;2111324;2121614;21282642;2169869;22001224;234739;24126823;2506737;25937211;29508533;29557506;29789417;3080418;3104879;3119859;3136125;31963697;32031891;32157095;32992797;33682938;35051231;35580925;36215666;3938604;4203704;4207120;4217196;4514311;4622589;4625868;4632246;4647257;4975618;4994926;5656372;6407977;6417382;6430186;6433979;6781336;6819139;7541176;7625839;7866410;7932756;804171;8057362;8070313;8083199;8300612;8356065;8399223;8875343;8972395;9054574;9143858;9336012;9486145;9635771;9784398", "class_list": "", "function": "Carbonic anhydrase 1 (CA1) and CA4 were identified as potential biomarkers of Colon adenocarcinoma due to their predictive roles in diagnosis and prognosis, and the results were further confirmed by a series of analyses., [RefSeq, PubMed]; Carbonic anhydrase activity in the frontal lobe of human brain., [RefSeq, PubMed]; Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016]., [RefSeq]; Catalyzes the reversible hydration of carbon dioxide (PubMed:10550681, PubMed:16506782, PubMed:16686544, PubMed:16807956, PubMed:17127057, PubMed:17314045, PubMed:17407288, PubMed:18618712, PubMed:19186056, PubMed:19206230). Can hydrate cyanamide to urea (PubMed:10550681)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Catalyzes the reversible hydration of carbon dioxide. Can hydrate cyanamide to urea., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Overexpression of CA1 mRNA and the CA I Protein in Tumor Cells Does Not Change the Gene Expression of the ECM Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Reversible hydration of carbon dioxide., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The Effect of Nanoparticles on the Structure and Enzymatic Activity of Human Carbonic Anhydrase I and II. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "4.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.1", "type": "external" }, { "id": "4.2.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.69", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004064 arylesterase activity;GO:0016836 hydro-lyase activity;GO:0004089 carbonate dehydratase activity;GO:0018820 cyanamide hydratase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009750 response to fructose", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P00915-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99081-1", "uniprot_id": [ { "id": "HTF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99081", "type": "external" } ], "mass": 72965.0, "length": 682, "protein_name": "Transcription factor 12", "gene_name": "TCF12", "organism": "Human", "refseq_name": "transcription factor 12 isoform e", "refseq_ac": [ { "id": "NP_001293149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293149", "type": "external" } ], "gene_names_uniprotkb": "TCF12; BHLHB20; HEB; HTF4", "gene_names_refseq": "CRS3; HEB; HH26; HTF4; HsT17266; TCF-12; TCF12; bHLHb20; p64", "protein_names_uniprotkb": "Transcription factor 12; Class B basic helix-loop-helix protein 20; DNA-binding protein HTF4; E-box-binding protein; TCF-12; Transcription factor HTF-4; bHLHb20", "protein_names_refseq": "DNA-binding protein HTF4; E-box-binding protein; class B basic helix-loop-helix protein 20; helix-loop-helix transcription factor 4; transcription factor 12 isoform e; transcription factor HTF-4", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037); Pitt-Hopkins syndrome (Disease Ontology:DOID:0060488); craniosynostosis 3 (Disease Ontology:DOID:0061011); hypogonadotropic hypogonadism (Disease Ontology:DOID:0090070); obesity (Disease Ontology:DOID:9970); hypogonadotropic hypogonadism 26 with or without anosmia (MONDO:MONDO:0030534)", "pathway": " (hsa:6938); (R-HSA-525793); (R-HSA-8939236); (R-HSA-9031628); (R-HSA-9764725); (R-HSA-9839394); (R-HSA-9943411)", "pathway_count": 7, "publication_count": 282, "publication_id_list": "10199952;10203854;10330143;10381005;10601328;10611221;10611312;10655587;10656257;10734128;10805738;10826704;10872467;10882540;10984481;11018254;11027551;11237011;11280768;11331872;11343657;11567222;11755530;11782431;11840323;11847229;11912130;11956230;12399542;12511643;12634428;12682017;12700765;12826747;1312219;1377233;1446075;14522948;14597720;14969744;15102911;15161978;15449318;15542832;15542842;15620361;15647753;15678106;1570299;15733869;15836632;15880109;16034366;16136673;16187211;16221685;16260776;16263726;16287845;16339507;16372014;16407550;16484497;16574654;16616331;16732277;16964243;17088210;17088211;17088212;17130829;17433364;17467953;17525332;17632064;17717186;17898216;18042460;18056528;18088355;18160048;18220336;18280240;18299279;1833716;18456661;18456662;18524893;1861162;18669648;18701449;1886779;19061646;19116276;19193899;19194657;19204326;19564926;19651622;19664994;19690332;19926875;20068231;20160094;2017159;20211137;2040600;20418909;20506119;2052361;2072895;20871592;20887958;21057636;2109185;21326363;21406692;21486943;21571218;21621608;22012064;22046413;22053691;22065583;22158034;22302795;2237820;22569126;22897851;22922743;23186163;23354436;23466526;23481700;23812588;24060757;24714562;24715725;25043025;25218447;25248477;25271085;25394790;25466284;25569790;25576301;25728771;25748042;25755297;25810538;26018600;26154972;26212009;26728094;2676516;26992070;27041596;27128622;27137657;27220739;27661449;27846572;27862975;28076410;28275114;28286024;28904123;29237092;29351928;29493099;29557506;29559111;29729076;30467960;30779550;30898548;31154438;31217245;3127059;31409900;31492838;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32620954;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33392160;33592498;33608512;33691108;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34405274;34509645;35008676;35051231;35132862;35138000;35254053;35292107;35318648;35513511;35561310;35580925;35851744;36010968;36241641;36284347;3672127;36916930;37067645;37222488;37340703;37680149;37938771;38665916;39113057;39302247;39531497;39534244;40307207;40596516;7551568;7592934;7595538;7608156;7624335;7777577;7823924;7857651;7871435;7876254;7923378;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8846918;8918830;9032251;9069290;9084409;9343422;9390517;9418854;9418898;9622090;9722618;9770464;9774344;9786951;9808461;9822744;9858528;9858769;9988769", "class_list": "", "function": "Circular RNA hsa_circ_0002938 (circCRIM1) promotes the progression of esophageal squamous cell carcinoma by upregulating transcription factor 12., [RefSeq, PubMed]; Lncrna CASC15 Activated By TCF12 Promote Colorectal Cancer Progression via EMT., [RefSeq, PubMed]; Nuclear Tubulin Enhances CXCR4 Transcription and Promotes Chemotaxis Through TCF12 Transcription Factor in human Hematopoietic Stem Cells., [RefSeq, PubMed]; TCF12-regulated GRB7 facilitates the HER2+ breast cancer progression by activating Notch1 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional network that regulates the development of the GnRH axis (PubMed:32620954)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B4E1W1;Q7Z3D9;Q86TC1;Q86VM2", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0046982 protein heterodimerization activity;GO:0046332 SMAD binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006955 immune response;GO:0007399 nervous system development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 30.4, "record_id": "Q99081-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PIY5-1", "uniprot_id": [ { "id": "ARMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PIY5", "type": "external" } ], "mass": 48855.0, "length": 440, "protein_name": "Armadillo-like helical domain containing protein 1", "gene_name": "ARMH1", "organism": "Human", "refseq_name": "armadillo-like helical domain containing protein 1", "refseq_ac": [ { "id": "NP_001139108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139108", "type": "external" } ], "gene_names_uniprotkb": "ARMH1; C1orf228; NCRNA00082", "gene_names_refseq": "ARMH1; C1orf228; NCRNA00082; p40", "protein_names_uniprotkb": "Armadillo-like helical domain containing protein 1; p40", "protein_names_refseq": "armadillo-like helical domain containing protein 1; uncharacterized protein C1orf228", "tax_id": 9606, "disease": "", "pathway": " (hsa:339541)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;28514659;30379171;32387766;32502341;33968037;34509645;35051231;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1KXE5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6PIY5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59827-1", "uniprot_id": [ { "id": "BPIB4_HUMAN", "url": "https://www.uniprot.org/uniprot/P59827", "type": "external" } ], "mass": 65055.0, "length": 614, "protein_name": "BPI fold-containing family B member 4", "gene_name": "BPIFB4", "organism": "Human", "refseq_name": "BPI fold-containing family B member 4 precursor", "refseq_ac": [ { "id": "NP_872325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872325", "type": "external" } ], "gene_names_uniprotkb": "BPIFB4; C20orf186; LPLUNC4", "gene_names_refseq": "BPIFB4; C20orf186; LPLUNC4; RY2G5; dJ726C3.5", "protein_names_uniprotkb": "BPI fold-containing family B member 4; Ligand-binding protein RY2G5; Long palate, lung and nasal epithelium carcinoma-associated protein 4", "protein_names_refseq": "BPI fold-containing family B member 4 precursor; likely ortholog of rat probable ligand-binding protein RY2G5; long palate, lung and nasal epithelium carcinoma associated 4; long palate, lung and nasal epithelium carcinoma-associated protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:149954); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "11120840;11237011;11313366;11389039;11971875;12493837;12837268;13816;14506276;14739326;1522221;15229136;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;23302724;23426625;24219363;24256734;25075772;25461571;25596890;26148048;27089320;29557506;29789417;31844290;32488085;32547549;3286634;32998388;35053408;37582912;38884925;9523110;9665269;9756476", "class_list": "", "function": "BPIFB4 and its longevity-associated haplotype protect from cardiac ischemia in humans and mice. Publication Status: Online-Only, [RefSeq, PubMed]; Circulating BPIFB4 Levels Associate With and Influence the Abundance of Reparative Monocytes and Macrophages in Long Living Individuals. Publication Status: Online-Only, [RefSeq, PubMed]; May have the capacity to recognize and bind specific classes of odorants. May act as a carrier molecule, transporting odorants across the mucus layer to access receptor sites. May serve as a primary defense mechanism by recognizing and removing potentially harmful odorants or pathogenic microorganisms from the mucosa or clearing excess odorant from mucus to enable new odorant stimuli to be received (By similarity)., [UniProtKB]; New Insights for BPIFB4 in Cardiovascular Therapy. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The Longevity-Associated Variant of BPIFB4 Reduces Senescence in Glioma Cells and in Patients' Lymphocytes Favoring Chemotherapy Efficacy. Publication Status: Online-Only, [RefSeq, PubMed]; The longevity-associated BPIFB4 gene guarantees vascular homeostasis and immune protection through platelets., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5TDX6", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "P59827-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49715-1", "uniprot_id": [ { "id": "CEBPA_HUMAN", "url": "https://www.uniprot.org/uniprot/P49715", "type": "external" } ], "mass": 37561.0, "length": 358, "protein_name": "CCAAT/enhancer-binding protein alpha", "gene_name": "CEBPA", "organism": "Human", "refseq_name": "CCAAT/enhancer-binding protein alpha isoform b", "refseq_ac": [ { "id": "NP_001272758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272758", "type": "external" } ], "gene_names_uniprotkb": "CEBPA; CEBP", "gene_names_refseq": "C/EBP-alpha; CEBPA; CEBP", "protein_names_uniprotkb": "CCAAT/enhancer-binding protein alpha; C/EBP alpha", "protein_names_refseq": "CCAAT/enhancer binding protein (C/EBP), alpha; CCAAT/enhancer-binding protein alpha isoform b", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); Alzheimer's disease (Disease Ontology:DOID:10652); transient cerebral ischemia (Disease Ontology:DOID:224); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:1050); (R-HSA-381340); (R-HSA-9616222); (R-HSA-9841922)", "pathway_count": 4, "publication_count": 122, "publication_id_list": "10075656;10233885;10330422;10425206;10558993;10567568;10725330;10835357;10882139;10921906;11027271;11095972;11242107;11340171;11369759;11564866;11684017;11867521;11872672;12213831;12242300;12661007;12702500;12829629;12869508;1310260;14517214;14660596;14701740;15078966;15107404;1527059;15273253;15575056;15850785;15919796;16380219;16446383;16751774;16807249;17011499;17063141;17562868;17761950;17980149;18776924;18931025;19043829;19115207;19172745;19544470;19608861;20075868;20101026;20101261;20176812;20410507;20516642;20661648;21471526;21912254;21993314;22212957;22349414;22371011;22474248;22797303;23001182;23239344;23814099;24379003;24584857;25218447;2524830;25753223;25784653;25880248;26154972;26455797;26768311;26992070;27041596;2721961;27602952;27862975;27923061;28832583;29393594;29431622;29557506;29786170;30315122;30429286;31154438;32387766;33298915;33329381;33912179;34171305;34509645;35051231;35580925;39110129;7575576;7862113;8325954;8415748;8521497;8521498;8643605;8695841;8706692;8770873;8846917;8970730;9065481;9171241;9177240;9454824;9744270;9836620;9915821", "class_list": "", "function": "Can act as dominant-negative. Binds DNA and have transctivation activity, even if much less efficiently than isoform 2. Does not inhibit cell proliferation (PubMed:14660596)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Demonstration of alternative translation initiation of the mouse ortholog, [RefSeq, PubMed]; Directly and specifically enhances ribosomal DNA transcription interacting with RNA polymerase I-specific cofactors and inducing histone acetylation., [UniProtKB, PubMed]; Mutational studies of the rat and chick orthologs demonstrating alternative translational initiation, [RefSeq, PubMed]; Nemo-like kinase blocks myeloid differentiation by targeting tumor suppressor C/EBPalpha in AML., [RefSeq, PubMed]; Results suggest that control of rRNA synthesis is a novel function of C/EBPalpha adding to its role as key regulator of cell growth and proliferation., [RefSeq, PubMed]; This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]., [RefSeq]; Transcription factor that coordinates proliferation arrest and the differentiation of myeloid progenitors, adipocytes, hepatocytes, and cells of the lung and the placenta. Binds directly to the consensus DNA sequence 5'-T[TG]NNGNAA[TG]-3' acting as an activator on distinct target genes (PubMed:11242107). During early embryogenesis, plays essential and redundant functions with CEBPB. Essential for the transition from common myeloid progenitors (CMP) to granulocyte/monocyte progenitors (GMP). Critical for the proper development of the liver and the lung (By similarity). Necessary for terminal adipocyte differentiation, is required for postnatal maintenance of systemic energy homeostasis and lipid storage (By similarity). To regulate these different processes at the proper moment and tissue, interplays with other transcription factors and modulators. Down-regulates the expression of genes that maintain cells in an undifferentiated and proliferative state through E2F1 repression, which is critical for its ability to induce adipocyte and granulocyte terminal differentiation. Reciprocally E2F1 blocks adipocyte differentiation by binding to specific promoters and repressing CEBPA binding to its target gene promoters. Proliferation arrest also depends on a functional binding to SWI/SNF complex (PubMed:14660596). In liver, regulates gluconeogenesis and lipogenesis through different mechanisms. To regulate gluconeogenesis, functionally cooperates with FOXO1 binding to IRE-controlled promoters and regulating the expression of target genes such as PCK1 or G6PC1. To modulate lipogenesis, interacts and transcriptionally synergizes with SREBF1 in promoter activation of specific lipogenic target genes such as ACAS2. In adipose tissue, seems to act as FOXO1 coactivator accessing to ADIPOQ promoter through FOXO1 binding sites (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 13, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A7LNP2;P78319;Q05CA4", "ec_number_list": [], "go_molecular_function": "GO:0097677 STAT family protein binding;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0036488 CHOP-C/EBP complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0030851 granulocyte differentiation;GO:0043032 positive regulation of macrophage activation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001889 liver development", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P49715-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QE3-1", "uniprot_id": [ { "id": "ATAD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QE3", "type": "external" } ], "mass": 207570.0, "length": 1844, "protein_name": "ATPase family AAA domain-containing protein 5", "gene_name": "ATAD5", "organism": "Human", "refseq_name": "ATPase family AAA domain-containing protein 5", "refseq_ac": [ { "id": "NP_079133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079133", "type": "external" } ], "gene_names_uniprotkb": "ATAD5; C17orf41; Elg1; FRAG1", "gene_names_refseq": "ATAD5; C17orf41; ELG1; FRAG1", "protein_names_uniprotkb": "ATPase family AAA domain-containing protein 5; Chromosome fragility-associated gene 1 protein", "protein_names_refseq": "ATPase family AAA domain-containing protein 5; chromosome fragility associated gene 1; chromosome fragility-associated gene 1 protein; enhanced level of genomic instability 1 homolog", "tax_id": 9606, "disease": "neurilemmoma (Disease Ontology:DOID:3192)", "pathway": " (hsa:79915)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11468690;13678589;15983387;17525332;18220336;18452278;18669648;19651622;19664994;19690332;19691289;19755857;20068231;20147293;21406692;21555454;23186163;23277426;23481700;23937667;24714562;24715725;25418920;25576301;25880248;26154972;26282398;26728094;26811146;26992070;27600516;27846572;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;30315122;30379171;30484775;30524438;30779550;30833945;31154438;31844045;31844290;31875566;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32594826;32897882;32938616;32983136;33141586;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34718749;34932366;35051231;35580925;36284347;36675081;37739427;39106866;40596516", "class_list": "", "function": "ATAD5 suppresses centrosome over-duplication by regulating UAF1 and ID1., [RefSeq, PubMed]; Effects of Defective Unloading and Recycling of PCNA Revealed by the Analysis of ELG1 Mutants. Publication Status: Online-Only, [RefSeq, PubMed]; Has an important role in DNA replication and in maintaining genome integrity during replication stress (PubMed:15983387, PubMed:19755857). Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis (PubMed:15983387). Modulates the RAD9A interaction with BCL2 and thereby induces DNA damage-induced apoptosis (PubMed:15983387). Promotes PCNA deubiquitination by recruiting the ubiquitin-specific protease 1 (USP1) and WDR48 thereby down-regulating the error-prone damage bypass pathway (PubMed:20147293). As component of the ATAD5 RFC-like complex, regulates the function of the DNA polymerase processivity factor PCNA by unloading the ring-shaped PCNA homotrimer from DNA after replication during the S phase of the cell cycle (PubMed:23277426, PubMed:23937667). This seems to be dependent on its ATPase activity (PubMed:23277426). Plays important roles in restarting stalled replication forks under replication stress, by unloading the PCNA homotrimer from DNA and recruiting RAD51 possibly through an ATR-dependent manner (PubMed:31844045). Ultimately this enables replication fork regression, breakage, and eventual fork restart (PubMed:31844045). Both the PCNA unloading activity and the interaction with WDR48 are required to efficiently recruit RAD51 to stalled replication forks (PubMed:31844045). Promotes the generation of MUS81-mediated single-stranded DNA-associated breaks in response to replication stress, which is an alternative pathway to restart stalled/regressed replication forks (PubMed:31844045)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Short-range end resection requires ATAD5-mediated PCNA unloading for faithful homologous recombination., [RefSeq, PubMed]; The Frag1 signal pathway, by linking replication stress surveillance with apoptosis induction, plays a central role in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis., [RefSeq, PubMed]; Timely termination of repair DNA synthesis by ATAD5 is important in oxidative DNA damage-induced single-strand break repair., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 35, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q05DH0;Q69YR6;Q9H9I1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0061860 DNA clamp unloader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0031391 Elg1 RFC-like complex", "go_biological_process": "GO:0008283 cell population proliferation;GO:0006974 DNA damage response;GO:0045740 positive regulation of DNA replication;GO:1902166 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator;GO:0033260 nuclear DNA replication", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q96QE3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15059-1", "uniprot_id": [ { "id": "BRD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15059", "type": "external" } ], "mass": 79542.0, "length": 726, "protein_name": "Bromodomain-containing protein 3", "gene_name": "BRD3", "organism": "Human", "refseq_name": "bromodomain-containing protein 3", "refseq_ac": [ { "id": "NP_031397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031397", "type": "external" } ], "gene_names_uniprotkb": "BRD3; KIAA0043; RING3L", "gene_names_refseq": "BRD3; FSHRG2; ORFX; RING3L", "protein_names_uniprotkb": "Bromodomain-containing protein 3; RING3-like protein", "protein_names_refseq": "RING3-like protein; bromodomain-containing protein 3; female sterile homeotic related gene 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8019)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11237011;12371535;15302935;16008511;17287340;17322306;17344846;17924679;17934517;18212344;18406326;18452278;18669648;18767875;19413330;19651622;19664994;19664995;20058876;20068230;20068231;20166139;20871596;21406692;22464331;22564745;23186163;23481700;24275569;25593309;25892735;26992070;27105114;28446606;28832583;29242379;29351928;29557506;29567837;29789417;30429286;30524438;30833945;31154438;31492838;31844290;31848261;31969702;32119511;32157095;32161166;32193360;32387766;32488085;32502341;32895492;32938616;32983136;33298915;33592170;33592498;33717175;33968037;34019948;34509645;34605158;35051231;35138101;35580925;36010968;36581221;36608404;37043564;37217939;38494600;38665916;40596516;9373153", "class_list": "", "function": "A common binding motif in the ET domain of BRD3 forms polymorphic structural interfaces with host and viral proteins., [RefSeq, PubMed]; Activated lymphocytes induced by mitogens or antigens express various sets of genes, including those involved in the expression of cytokines, surface molecules, and nuclear proteins., [RefSeq, PubMed]; Chromatin reader that recognizes and binds acetylated histones, thereby controlling gene expression and remodeling chromatin structures (PubMed:18406326, PubMed:22464331, PubMed:27105114, PubMed:32895492). Recruits transcription factors and coactivators to target gene sites, and activates RNA polymerase II machinery for transcriptional elongation (PubMed:29567837, PubMed:32895492). In vitro, binds acetylated lysine residues on the N-terminus of histone H2A, H2B, H3 and H4 (PubMed:18406326). Involved in endoderm differentiation via its association with long non-coding RNA (lncRNA) DIGIT: BRD3 undergoes liquid-liquid phase separation upon binding to lncRNA DIGIT, promoting binding to histone H3 acetylated at 'Lys-18' (H3K18ac) to induce endoderm gene expression (PubMed:32895492). Also binds non-histones acetylated proteins, such as GATA1 and GATA2: regulates transcription by promoting the binding of the transcription factor GATA1 to its targets (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Epigenetic readers and lung cancer: the rs2427964C>T variant of the bromodomain and extraterminal domain gene BRD3 is associated with poorer survival outcome in NSCLC., [RefSeq, PubMed]; Kinome-wide screening uncovers a role for Bromodomain Protein 3 in DNA double-stranded break repair., [RefSeq, PubMed]; Targeting BRD3 eradicates nuclear TYRO3-induced colorectal cancer metastasis. Erratum:[Sci Adv. 2023 Nov 10;9(45):eadl3229. doi: 10.1126/sciadv.adl3229. PMID: 37948531], [RefSeq, PubMed]; This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor suppressive role of the epigenetic master regulator BRD3 in colorectal cancer., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B1APD9;Q4G5Y3;Q5T1R7;Q8N5M3;Q92645", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0004674 protein serine/threonine kinase activity;GO:0042393 histone binding;GO:0140693 molecular condensate scaffold activity;GO:0062072 histone H3K9me2/3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071168 protein localization to chromatin", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q15059-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUQ1-1", "uniprot_id": [ { "id": "RINT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUQ1", "type": "external" } ], "mass": 90632.0, "length": 792, "protein_name": "RAD50-interacting protein 1", "gene_name": "RINT1", "organism": "Human", "refseq_name": "RAD50-interacting protein 1 isoform 1", "refseq_ac": [ { "id": "NP_068749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068749", "type": "external" } ], "gene_names_uniprotkb": "RINT1", "gene_names_refseq": "ILFS3; RINT-1; RINT1", "protein_names_uniprotkb": "RAD50-interacting protein 1; HsRINT-1; RAD50 interactor 1; RINT-1", "protein_names_refseq": "RAD50-interacting protein 1 isoform 1; Rad50-interacting protein 1", "tax_id": 9606, "disease": "infantile liver failure syndrome (Disease Ontology:DOID:0080716); infantile liver failure syndrome 3 (MONDO:MONDO:0032844)", "pathway": " (hsa:60561); (R-HSA-6811434)", "pathway_count": 2, "publication_count": 152, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10921873;11096100;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;14504276;14654841;15029241;15037235;15272311;15616190;15632110;15813748;16030262;1631136;16571679;16600870;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17360540;17429068;17451557;17760859;17927562;17956946;18182008;18287528;18524849;18809720;1898986;19015319;19109418;19151722;19164740;19369418;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22304919;22869377;23396477;23481700;24056303;24366607;24397554;24714562;25364732;25418920;25436559;25492864;25576301;26154972;26375851;26728094;26811146;26992070;27397612;27600516;27846572;27920218;28832583;28904123;29437277;29493099;29557506;30315122;30429286;31154438;31204009;31217245;31637018;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33531371;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34211107;34357683;34405274;34509645;34932366;35051231;35254053;35561310;35580925;36010968;36241641;36284347;37541260;37938771;39302247;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the NRZ complex which is believed to play a role in SNARE assembly at the ER. May play a role in cell cycle checkpoint control (PubMed:11096100). Essential for telomere length control (PubMed:16600870)., [UniProtKB, PubMed, PubMed]; RINT-1 coordinates the localization and function of ZW10 by serving as a link between ZW10 and the SNARE complex comprising syntaxin 18., [RefSeq, PubMed]; RINT1 Regulates SUMOylation and the DNA Damage Response to Preserve Cellular Homeostasis in Pancreatic Cancer., [RefSeq, PubMed]; This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q75MG9;Q75MH0;Q96IW8;Q9H229;Q9HAD9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070939 Dsl1/NZR complex;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0060628 regulation of ER to Golgi vesicle-mediated transport;GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0007095 mitotic G2 DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q6NUQ1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2R6-1", "uniprot_id": [ { "id": "RERE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2R6", "type": "external" } ], "mass": 172424.0, "length": 1566, "protein_name": "Arginine-glutamic acid dipeptide repeats protein", "gene_name": "RERE", "organism": "Human", "refseq_name": "arginine-glutamic acid dipeptide repeats protein isoform a", "refseq_ac": [ { "id": "NP_001036146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036146", "type": "external" } ], "gene_names_uniprotkb": "RERE; ARG; ARP; ATN1L; KIAA0458", "gene_names_refseq": "ARG; ARP; ATN1L; DNB1; NEDBEH; RERE", "protein_names_uniprotkb": "Arginine-glutamic acid dipeptide repeats protein; Atrophin-1-like protein; Atrophin-1-related protein", "protein_names_refseq": "arginine-glutamic acid dipeptide (RE) repeats; arginine-glutamic acid dipeptide repeats protein isoform a; atrophin 2; atrophin-1 like protein; atrophin-1 related protein", "tax_id": 9606, "disease": "dentatorubral-pallidoluysian atrophy (Disease Ontology:DOID:0060162); neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (MONDO:MONDO:0014857)", "pathway": " (hsa:473)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "10729226;10814707;11237011;11331249;15302935;17081983;18220336;18452278;18669648;18991276;19131340;19651622;19664995;19690332;20068231;21406692;23186163;24275569;24714562;24715725;25218447;25576301;26375851;26728094;26992070;27087320;27600516;27862975;28228285;28832583;28904123;29242379;29351928;29393594;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34932366;35051231;35132862;35254053;35318648;35561310;35580925;36010968;36241641;37340703;38665916;39531497;39534244", "class_list": "", "function": "Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death., [UniProtKB, PubMed]; Suggest that mutations in RERE cause a genetic syndrome and that haploinsufficiency of RERE might be sufficient to cause many of the phenotypes associated with proximal 1p36 deletions, [RefSeq, PubMed]; This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "O43393;O75046;O75359;Q5VXL9;Q6P6B9;Q9Y2W4", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9P2R6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92805-1", "uniprot_id": [ { "id": "GOGA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92805", "type": "external" } ], "mass": 88184.0, "length": 767, "protein_name": "Golgin subfamily A member 1", "gene_name": "GOLGA1", "organism": "Human", "refseq_name": "golgin subfamily A member 1", "refseq_ac": [ { "id": "NP_002068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002068", "type": "external" } ], "gene_names_uniprotkb": "GOLGA1", "gene_names_refseq": "GOLGA1; golgin-97", "protein_names_uniprotkb": "Golgin subfamily A member 1; Golgin-97", "protein_names_refseq": "gap junction protein, alpha 4, 37kD; golgi autoantigen, golgin subfamily a, 1; golgin subfamily A member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2800); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10209123;10209125;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;12972563;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17276477;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18669648;18946081;19164740;19490898;19620288;19651622;20068231;20610657;20685960;21183348;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22717455;23091056;23437303;23481700;24275569;24794632;25343031;25576301;25892735;26992070;27846572;28832583;28904123;29084197;29093164;29393594;29493099;29769354;31154438;31844290;32157095;32265295;32938616;33239640;33298915;33392160;33633747;33912179;33968037;33981976;34087483;34171305;34969853;35051231;35580925;36010968;36241641;38552021;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9324025;9590177", "class_list": "", "function": "(Microbial infection) Plays an important role in poxvirus morphogenesis. Translocates into the viral factories where it may transport the membrane fragments and associated protein factors important for virus maturation to the sites of virion assembly., [UniProtKB, PubMed]; Data show that Arl1 regulates the membrane recruitment of Golgin-97, which plays a role in transport from the endosome to the trans-Golgi network., [RefSeq, PubMed]; FIP1/RCP binding to Golgin-97 is required for tethering and fusion of recycling endosome-derived retrograde transport vesicles to the trans-Golgi network., [RefSeq, PubMed]; Involved in vesicular trafficking at the Golgi apparatus level. Involved in endosome-to-Golgi trafficking. Mechanistically, captures transport vesicles arriving from endosomes via the protein TBC1D23 (PubMed:29084197, PubMed:38552021). Recognized vesicles are then tethered to the trans-Golgi before subsequent SNARE engagement and vesicle fusion. Selectively regulates E-cadherin transport from the trans-Golgi network in tubulovesicular carriers (PubMed:34969853)., [UniProtKB, PubMed, PubMed, PubMed]; PKD-dependent PARP12-catalyzed mono-ADP-ribosylation of Golgin-97 is required for E-cadherin transport from Golgi to plasma membrane., [RefSeq, PubMed]; Spatial proteomics defines the content of trafficking vesicles captured by golgin tethers. Publication Status: Online-Only, [RefSeq, PubMed]; The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This encoded protein is associated with Sjogren's syndrome. [provided by RefSeq, Feb 2010]., [RefSeq]; The ability of the four mammalian GRIP domain proteins, p230, golgin-97, GCC88, and GCC185 to interact is reported., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T164;Q8IYZ9", "ec_number_list": [], "go_molecular_function": "GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0070633 transepithelial transport", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q92805-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZN1-1", "uniprot_id": [ { "id": "ARP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZN1", "type": "external" } ], "mass": 45810.0, "length": 396, "protein_name": "Actin-related protein 6", "gene_name": "ACTR6", "organism": "Human", "refseq_name": "actin-related protein 6", "refseq_ac": [ { "id": "NP_071941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071941", "type": "external" } ], "gene_names_uniprotkb": "ACTR6; CDA12", "gene_names_refseq": "ACTR6; ARP6; CDA12; HSPC281; MSTP136; hARP6; hARPX", "protein_names_uniprotkb": "Actin-related protein 6; hARPX; hArp6", "protein_names_refseq": "ARP6 actin related protein 6 homolog; actin-related protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:64431)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;11368909;15647280;16487625;19608861;20473270;23481700;25418920;25576301;25645385;25880248;25892735;26154972;26164235;26929215;26992070;27600516;28218747;28228285;28514659;28832583;28904123;29242379;29437277;29769354;30315122;30337683;30410026;30524438;30779550;30833945;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34561969;34932366;35051231;35318648;35580925;36241641;36284347;37938771", "class_list": "", "function": "Required for formation and/or maintenance of proper nucleolar structure and function (PubMed:26164235). Plays a dual role in the regulation of ribosomal DNA (rDNA) transcription (By similarity). In the presence of high glucose, maintains active rDNA transcription through H2A.Z deposition and under glucose starvation, is required for the repression of rDNA transcription, and this function may be independent of H2A.Z (By similarity)., [UniProtKB, PubMed, UniProtKB]; Results describe the predominant nuclear localization of another Arp subfamily, Arp6, in vertebrate cells, and show its colocalization with heterochromatin protein 1 orthologs in pericentric heterochromatin., [RefSeq, PubMed]; Under starvation, ARP6 was required for cell survival through the repression of rDNA transcription independently of H2A.Z, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KW37;B4DLG9;Q53GH2;Q9BY39;Q9H8H6", "ec_number_list": [], "go_molecular_function": "GO:0031491 nucleosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005856 cytoskeleton;GO:0000812 Swr1 complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0007000 nucleolus organization;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045943 positive regulation of transcription by RNA polymerase I", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9GZN1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW66-1", "uniprot_id": [ { "id": "CINP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW66", "type": "external" } ], "mass": 24324.0, "length": 212, "protein_name": "Cyclin-dependent kinase 2-interacting protein", "gene_name": "CINP", "organism": "Human", "refseq_name": "cyclin-dependent kinase 2-interacting protein isoform 2", "refseq_ac": [ { "id": "NP_001306975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306975", "type": "external" } ], "gene_names_uniprotkb": "CINP", "gene_names_refseq": "CINP", "protein_names_uniprotkb": "Cyclin-dependent kinase 2-interacting protein; CDK2-interacting protein", "protein_names_refseq": "CDK2-interacting protein; cyclin-dependent kinase 2-interacting protein isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51550)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;16082200;16959974;18669648;19413330;19889979;20068231;21131973;21628470;23186163;23481700;24366607;26154972;26992070;27846572;27920218;28228285;28834231;28904123;29557506;30192525;31154438;31530632;31844290;31998317;32157095;32357974;32938616;33141586;33298915;33592498;33936100;33968037;34171305;35354024;38554706", "class_list": "", "function": "CINP interacts with ATR-interacting protein and regulates ATR-dependent signaling, resistance to replication stress, and G2 checkpoint integrity., [RefSeq, PubMed]; CINP is part of the Cdc7-dependent mechanism of origin firing and a functional and physical link between Cdk2 and Cdc7 complexes at the origins, [RefSeq, PubMed]; Component of the DNA replication complex, which interacts with two kinases, CDK2 and CDC7, thereby providing a functional and physical link between CDK2 and CDC7 during firing of the origins of replication (PubMed:16082200, PubMed:19889979). Regulates ATR-mediated checkpoint signaling in response to DNA damage (PubMed:16082200, PubMed:19889979). Part of the 55LCC heterohexameric ATPase complex which is chromatin-associated and promotes replisome proteostasis to maintain replication fork progression and genome stability. Required for replication fork progression, sister chromatid cohesion, and chromosome stability. The ATPase activity is specifically enhanced by replication fork DNA and is coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. Uses ATPase activity to process replisome substrates in S-phase, facilitating their proteolytic turnover from chromatin to ensure DNA replication and mitotic fidelity (PubMed:38554706). As part of 55LCC complex, also involved in the cytoplasmic maturation steps of pre-60S ribosomal particles by promoting the release of shuttling protein RSL24D1/RLP24 from the pre-ribosomal particles (PubMed:35354024)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; NS5B delays cells in S phase through interaction with CINP and relocalization of the protein from the nucleus to the cytoplasm, [RefSeq, PubMed]; The protein encoded by this gene is reported to be a component of the DNA replication complex as well as a genome-maintenance protein. It may interact with proteins important for replication initiation and has been shown to bind chromatin at the G1 phase of the cell cycle and dissociate from chromatin with replication initiation. It may also serve to regulate checkpoint signaling as part of the DNA damage response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F5H7P3;F5H8A7;Q9NPF9", "ec_number_list": [], "go_molecular_function": "GO:1990275 preribosome binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006281 DNA repair;GO:0051301 cell division;GO:0042273 ribosomal large subunit biogenesis;GO:0006260 DNA replication;GO:0090069 regulation of ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9BW66-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27694-1", "uniprot_id": [ { "id": "RFA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P27694", "type": "external" } ], "mass": 68138.0, "length": 616, "protein_name": "Replication protein A 70 kDa DNA-binding subunit", "gene_name": "RPA1", "organism": "Human", "refseq_name": "replication protein A 70 kDa DNA-binding subunit isoform 1", "refseq_ac": [ { "id": "NP_002936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002936", "type": "external" } ], "gene_names_uniprotkb": "RPA1; REPA1; RPA70", "gene_names_refseq": "HSSB; MST075; PFBMFT6; REPA1; RF-A; RP-A; RPA1; RPA70", "protein_names_uniprotkb": "Replication protein A 70 kDa DNA-binding subunit; RF-A protein 1; RP-A p70; Replication factor A protein 1; Single-stranded DNA-binding protein", "protein_names_refseq": "MSTP075; RF-A protein 1; RP-A p70; replication factor A protein 1; replication protein A 70 kDa DNA-binding subunit isoform 1; replication protein A1, 70kDa; single-stranded DNA-binding protein", "tax_id": 9606, "disease": "pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 (MONDO:MONDO:0030690)", "pathway": " (hsa:6117); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-174437); (R-HSA-176187); (R-HSA-3108214); (R-HSA-3371453); (R-HSA-3371511); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-5696395); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6783310); (R-HSA-6804756); (R-HSA-68962); (R-HSA-69166); (R-HSA-69473); (R-HSA-912446); (R-HSA-9709570)", "pathway_count": 32, "publication_count": 660, "publication_id_list": 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"class_list": "", "function": "As long as a threshold of RPA1-ssDNA binding activity is met, DNA replication can occur and that an RPA1 activity separate from ssDNA binding is essential for function in DNA repair., [RefSeq, PubMed]; As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism (PubMed:17596542, PubMed:27723717, PubMed:27723720). Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage (PubMed:9430682). In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response (PubMed:24332808). It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin in response to DNA damage (PubMed:17765923). Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair (PubMed:7697716). Also plays a role in base excision repair (BER) probably through interaction with UNG (PubMed:9765279). Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. Plays a role in telomere maintenance (PubMed:17959650, PubMed:34767620). As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA synthesis by polymerase delta in presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange (PubMed:19996105). RPA stimulates 5'-3' helicase activity of the BRIP1/FANCJ (PubMed:17596542)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Data suggest that RPA-coated ssDNA is the critical structure at sites of DNA damage that recruits the ATR-ATRIP complex and facilitates its recognition of substrates for phosphorylation and the initiation of checkpoint signaling, [RefSeq, PubMed]; Harmonin homology domain-mediated interaction of RTEL1 helicase with RPA and DNA provides insights into its recruitment to DNA repair sites., [RefSeq, PubMed]; Replication of [AT/TA]25 Microsatellite Sequences by Human DNA Polymerase delta Holoenzymes Is Dependent on dNTP and RPA Levels., [RefSeq, PubMed]; This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important role in DNA metabolism, being involved in DNA replication, repair, recombination, telomere maintenance, and co-ordinating the cellular response to DNA damage through activation of the ataxia telangiectasia and Rad3-related protein (ATR) kinase. The nucleoprotein complex protects the single-stranded DNA from nucleases, prevents formation of secondary structures that would interfere with repair, and co-ordinates the recruitment and departure of different genome maintenance factors. This subunit contains four oligonucleotide/oligosaccharide-binding (OB) domains, though the majority of ssDNA binding occurs in two of these domains. The heterotrimeric complex has two different modes of ssDNA binding, a low-affinity and high-affinity mode, determined by which ssDNA binding domains are utilized. The different binding modes differ in the length of DNA bound and in the proteins with which it interacts, thereby playing a role in regulating different genomic maintenance pathways. [provided by RefSeq, Sep 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K0Y9;Q59ES9", "ec_number_list": [], "go_molecular_function": "GO:0098505 G-rich strand telomeric DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0003684 damaged DNA binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001673 male germ cell nucleus;GO:0016605 PML body;GO:0035861 site of double-strand break", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006284 base-excision repair;GO:0000723 telomere maintenance", "synthesized_glycan_count": 0, "hit_score": 66.4, "record_id": "P27694-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFW9-1", "uniprot_id": [ { "id": "MYRIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFW9", "type": "external" } ], "mass": 95706.0, "length": 859, "protein_name": "Rab effector MyRIP", "gene_name": "MYRIP", "organism": "Human", "refseq_name": "rab effector MyRIP isoform b", "refseq_ac": [ { "id": "NP_001271353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271353", "type": "external" } ], "gene_names_uniprotkb": "MYRIP; SLAC2C", "gene_names_refseq": "MYRIP; SLAC2-C; SLAC2C", "protein_names_uniprotkb": "Rab effector MyRIP; Exophilin-8; Myosin-VIIa- and Rab-interacting protein; SlaC2-c; Slp homolog lacking C2 domains c; Synaptotagmin-like protein lacking C2 domains C", "protein_names_refseq": "Slp homologue lacking C2 domains; exophilin-8; myosin-VIIa- and Rab-interacting protein; rab effector MYRIP; rab effector MyRIP isoform b; slp homolog lacking C2 domains c; synaptotagmin-like protein homologue lacking C2 domains-c; synaptotagmin-like protein lacking C2 domains C", "tax_id": 9606, "disease": "", "pathway": " (hsa:25924); (R-HSA-264876); (R-HSA-9824585)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10521251;10587587;11237011;11462236;11493706;11532965;11707400;11856727;11904301;11964381;12062444;12221080;1321344;14517322;14617756;14704853;1528899;15331542;1537333;1537334;15543135;15695812;15729346;15878854;16158220;16158222;16303920;16407158;16714477;16984975;17182843;17287340;17827149;17952075;18483556;18697795;18812475;19389701;19717472;20308425;20861866;21091435;21145486;21308844;21713314;21740491;22396429;24267888;25091901;25576301;26675235;26694611;2669954;2822027;29351928;29557506;30429286;30515787;31154438;31184304;32723473;33091337;33100333;33485965;34185709;35051231;35580127;35580925;38838015;3896518;7626024;7813420;8306979;8916141;8921401;9166668;9207799;9631292;9758418", "class_list": "", "function": "A Rab27a/MyRIP/myosin Va complex is involved in linking von-Willebrand factor (Vwf) to the peripheral actin cytoskeleton of endothelial cells to allow full maturation and prevent premature secretion of vWF., [RefSeq, PubMed]; A molecular complex composed of Rab27A, MyRIP and myosin VIIa bridges retinal melanosomes to the actin cytoskeleton and thereby mediates the local trafficking of these organelles, [RefSeq, PubMed]; A new potentially protective effect was identified at rs2679798 in MYRIP. GeneRIF: Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Myrip couples the retention of secretory granules in the cell cortex, their transport to the plasma membrane, and their attachment to the plasma membrane, thus promoting secretion., [RefSeq, PubMed]; Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity)., [UniProtKB]; Slac2-c/MyRIP contains an N-terminal Slp homology domain (SHD) and functions as a linker protein that interacts with myosin Rab27A/B, VIIa/Va, and actin., [RefSeq, PubMed]; Slac2c/MyRIP is part of a complex mediating the interaction of secretory granules with cortical actin cytoskeleton, [RefSeq, PubMed]; The role of MyRIP in Ca(2+)-driven exocytosis requires both MyoVa- and actin-binding potential., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B3KWM3;B3KWW4;B7Z2H1;B7Z9V3;G3XAI8;Q32M41;Q32M42;Q569F7;Q8IUF5;Q9Y3V4", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0017022 myosin binding;GO:0031267 small GTPase binding;GO:0051018 protein kinase A binding", "go_cellular_component": "GO:0005829 cytosol;GO:0045202 synapse;GO:0048471 perinuclear region of cytoplasm;GO:0042470 melanosome;GO:0030133 transport vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032024 positive regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q8NFW9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TC12-1", "uniprot_id": [ { "id": "ATPF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TC12", "type": "external" } ], "mass": 36437.0, "length": 328, "protein_name": "ATP synthase mitochondrial F1 complex assembly factor 1", "gene_name": "ATPAF1", "organism": "Human", "refseq_name": "ATP synthase mitochondrial F1 complex assembly factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001036011", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036011", "type": "external" } ], "gene_names_uniprotkb": "ATPAF1; ATP11", "gene_names_refseq": "ATP11p; ATP11; ATPAF1", "protein_names_uniprotkb": "ATP synthase mitochondrial F1 complex assembly factor 1; ATP11 homolog", "protein_names_refseq": "ATP synthase mitochondrial F1 complex assembly factor 1 isoform 2; homolog of yeast ATP11", "tax_id": 9606, "disease": "", "pathway": " (hsa:64756)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;11410595;12965202;19615748;21696813;23301498;23481700;24714562;24715725;25576301;25645385;25892735;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29331515;29437277;29493099;29508533;29557506;29769354;29786170;30315122;30410026;30779550;30833945;31154438;31217245;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33717175;33912179;34171305;34185709;34211107;34357683;34932366;35580925;36010968;37938771", "class_list": "", "function": "Asthma was found to be associated with a cluster of SNPs and SNP haplotypes containing the ATPAF1 gene, [RefSeq, PubMed]; Has a complex stabilizing activity in the assembly of the mitochondrial F1-F0 complex., [UniProtKB, UniProtKB]; This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AQW7;B7Z7D6;B7Z7I6;Q9H6E3", "ec_number_list": [], "go_molecular_function": "GO:0140777 protein-containing complex stabilizing activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q5TC12-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXB1-1", "uniprot_id": [ { "id": "MT21A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXB1", "type": "external" } ], "mass": 24600.0, "length": 218, "protein_name": "Protein N-lysine methyltransferase METTL21A", "gene_name": "METTL21A", "organism": "Human", "refseq_name": "protein N-lysine methyltransferase METTL21A isoform 1", "refseq_ac": [ { "id": "NP_001120867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120867", "type": "external" } ], "gene_names_uniprotkb": "METTL21A; FAM119A; HCA557B", "gene_names_refseq": "FAM119A; HCA557b; HSPA-KMT; METTL21A", "protein_names_uniprotkb": "Protein N-lysine methyltransferase METTL21A; 2.1.1.-; HSPA lysine methyltransferase; HSPA-KMT; Hepatocellular carcinoma-associated antigen 557b; Methyltransferase-like protein 21A", "protein_names_refseq": "HSPA lysine methyltransferase; family with sequence similarity 119, member A; heat shock protein 70kDa lysine (K) methyltransferase; hepatocellular carcinoma-associated antigen 557b; methyltransferase like 21A; methyltransferase-like protein 21A; protein N-lysine methyltransferase METTL21A isoform 1; protein N-lysine methyltransferase METTL21A", "tax_id": 9606, "disease": "", "pathway": " (hsa:151194); (R-HSA-8876725)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "11237011;16118227;22948820;23349634;23481700;23921388;25144183;25231979;25416781;25589627;26545399;26992070;27862975;28218747;28832583;29242379;29437277;29493099;30315122;30410026;31844290;32357974;32387766;33123756;33141586;33633747;33912179;33968037;34093574;34509645;35051231;35580925;39894887", "class_list": "", "function": "METTL21A trimethylates Lys-561 in Hsp70 and corresponding residues in other isoforms (Hsc70, BiP), [RefSeq, PubMed]; Methyltransferase METTL21A is the enzyme responsible for trimethylation of a conserved lysine residue found in several human Hsp70 (HSPA) proteins, [RefSeq, PubMed]; Protein-lysine methyltransferase that selectively trimethylates residues in heat shock protein 70 (HSP70) family members. Contributes to the in vivo trimethylation of Lys residues in HSPA1 and HSPA8. In vitro methylates 'Lys-561' in HSPA1, 'Lys-564' in HSPA2, 'Lys-585' in HSPA5, 'Lys-563' in HSPA6 and 'Lys-561' in HSPA8., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53RV0;Q8N1Z9;Q96GH6", "ec_number_list": [ { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" }, { "id": "2.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.372", "type": "external" } ], "go_molecular_function": "GO:0051117 ATPase binding;GO:0031072 heat shock protein binding;GO:0008276 protein methyltransferase activity;GO:0030544 Hsp70 protein binding;GO:0016279 protein-lysine N-methyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0006479 protein methylation;GO:1903333 negative regulation of protein folding;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8WXB1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4VNC1-1", "uniprot_id": [ { "id": "AT134_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4VNC1", "type": "external" } ], "mass": 133987.0, "length": 1196, "protein_name": "Probable cation-transporting ATPase 13A4", "gene_name": "ATP13A4", "organism": "Human", "refseq_name": "probable cation-transporting ATPase 13A4", "refseq_ac": [ { "id": "NP_115655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115655", "type": "external" } ], "gene_names_uniprotkb": "ATP13A4; PRO9871", "gene_names_refseq": "ATP13A4", "protein_names_uniprotkb": "Probable cation-transporting ATPase 13A4; 7.2.2.-; P5-ATPase isoform 4", "protein_names_refseq": "ATPase type 13A4; cation-transporting P5-ATPase; probable cation-transporting ATPase 13A4", "tax_id": 9606, "disease": "Kufor-Rakeb syndrome (Disease Ontology:DOID:0060556); juvenile-onset Parkinson's disease (Disease Ontology:DOID:0060893); Parkinson's disease (Disease Ontology:DOID:14330); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); hereditary spastic paraplegia (Disease Ontology:DOID:2476); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:84239); (R-HSA-936837)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;12975309;15831496;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19878721;2160952;22186024;23196729;24392018;24397554;25645385;27067231;27397612;28228285;29242379;29505581;29557506;29789417;30501451;30779550;31844290;32502341;36284347;37371498;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "ATP13A4 Upregulation Drives the Elevated Polyamine Transport System in the Breast Cancer Cell Line MCF7. Publication Status: Online-Only, [RefSeq, PubMed]; ATP13A4 is a novel gene coding for a cation-transporting P-type ATPase and is interrupted by 3q25-q29 inversion in an individual with language delay, [RefSeq, PubMed]; MRNA expression of the P5 ATPase ATP13A4 is increased in Broca's area from subjects with schizophrenia., [RefSeq, PubMed]; Polyamine transporter mediating cellular uptake of putrescine, spermidine and spermine (Probable). May be involved in the regulation of intracellular calcium levels (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7WPC7;Q6UY23;Q8N1Q9;Q9H043", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "7.6.2.16", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.16", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0019829 ATPase-coupled monoatomic cation transmembrane transporter activity;GO:0015662 P-type ion transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0034220 monoatomic ion transmembrane transport;GO:1902047 polyamine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q4VNC1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17024-1", "uniprot_id": [ { "id": "ZNF20_HUMAN", "url": "https://www.uniprot.org/uniprot/P17024", "type": "external" } ], "mass": 61567.0, "length": 532, "protein_name": "Zinc finger protein 20", "gene_name": "ZNF20", "organism": "Human", "refseq_name": "zinc finger protein 20 isoform 1", "refseq_ac": [ { "id": "NP_066966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066966", "type": "external" } ], "gene_names_uniprotkb": "ZNF20; KOX13", "gene_names_refseq": "KOX13; ZNF20", "protein_names_uniprotkb": "Zinc finger protein 20; Zinc finger protein KOX13", "protein_names_refseq": "zinc finger protein 20 isoform 1; zinc finger protein KOX13", "tax_id": 9606, "disease": "", "pathway": " (hsa:7568); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;2288909;30379171;30484775;31154438;31222486;31844290;32157095;32357974;32938616;33968037;35051231;36284347;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N457;Q9UG41", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P17024-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VP1-1", "uniprot_id": [ { "id": "TAXB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VP1", "type": "external" } ], "mass": 90877.0, "length": 789, "protein_name": "Tax1-binding protein 1", "gene_name": "TAX1BP1", "organism": "Human", "refseq_name": "tax1-binding protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001073333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073333", "type": "external" } ], "gene_names_uniprotkb": "TAX1BP1; PRO0105; T6BP", "gene_names_refseq": "CALCOCO3; T6BP; TAX1BP1; TXBP151", "protein_names_uniprotkb": "Tax1-binding protein 1; TRAF6-binding protein", "protein_names_refseq": "TRAF6-binding protein; Tax1 (human T-cell leukemia virus type I) binding protein 1; tax1-binding protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8887); (R-HSA-5357905); (R-HSA-936440)", "pathway_count": 3, "publication_count": 166, "publication_id_list": "10.1038/emboj.2013.79;10435631;10521396;10837247;10920205;11098060;11181075;11230166;11237011;11427719;11577081;12167698;12709429;14530271;14697242;14716293;15024054;15258597;15870263;16682944;16699525;16715065;16829951;16829952;16959974;17314102;17702576;17703191;17991829;18057259;18178551;18200010;18292551;19125153;19278658;19289468;19416807;19881509;19893624;19910467;20068231;20185725;20219915;20304918;20385093;20434986;21235526;21408173;21654843;21765415;21885437;22179575;22297296;22435550;22848449;23186163;23313255;23328677;23481700;23584533;23746843;24098568;24239949;24246475;24275569;24323043;24726323;24726327;25502872;25505266;25565632;25576301;26344099;26451915;26900751;26997266;27062441;27090790;27307491;27452731;27458237;27545878;27552911;27591049;27600516;27736772;27862975;28467828;28506461;28649982;28832583;28855257;28898289;28904123;28920952;28920954;29242379;29314611;29317506;29393594;29557506;29632046;29632711;29642005;29940186;30146158;30361438;30397120;30420664;30429286;30459273;30833945;30909570;30988283;31366726;31371777;31511692;31611695;31844290;32157095;32161166;32265295;32320653;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33226137;33298915;33469115;33592498;33912179;33936100;33968037;33981976;34078123;34087483;34162724;34171305;34225486;34226595;34357683;34363755;34431698;34433824;34471133;34509645;34876703;34932366;35051231;35154160;35251023;35494241;35561310;35941131;36010968;36215666;36898370;37465957;7531702;7667287;9049422;9065443", "class_list": "", "function": "Decreased TAX1BP1 participates in systemic lupus erythematosus by regulating monocyte/macrophage function., [RefSeq, PubMed]; FIP200 controls the TBK1 activation threshold at SQSTM1/p62-positive condensates. Publication Status: Online-Only, [RefSeq, PubMed]; Galectin-8 Senses Phagosomal Damage and Recruits Selective Autophagy Adapter TAX1BP1 To Control Mycobacterium tuberculosis Infection in Macrophages., [RefSeq, PubMed]; Reconstitution defines the roles of p62, NBR1 and TAX1BP1 in ubiquitin condensate formation and autophagy initiation. Publication Status: Online-Only, [RefSeq, PubMed]; TNIP1 inhibits selective autophagy via bipartite interaction with LC3/GABARAP and TAX1BP1., [RefSeq, PubMed]; This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]., [RefSeq]; Ubiquitin-binding adapter that participates in inflammatory, antiviral and innate immune processes as well as selective autophagy regulation (PubMed:29940186, PubMed:30459273, PubMed:30909570). Plays a key role in the negative regulation of NF-kappa-B and IRF3 signalings by acting as an adapter for the ubiquitin-editing enzyme A20/TNFAIP3 to bind and inactivate its substrates (PubMed:17703191). Disrupts the interactions between the E3 ubiquitin ligase TRAF3 and TBK1/IKBKE to attenuate 'Lys63'-linked polyubiquitination of TBK1 and thereby IFN-beta production (PubMed:21885437). Also recruits A20/TNFAIP3 to ubiquitinated signaling proteins TRAF6 and RIPK1, leading to their deubiquitination and disruption of IL-1 and TNF-induced NF-kappa-B signaling pathways (PubMed:17703191). Inhibits virus-induced apoptosis by inducing the 'Lys-48'-linked polyubiquitination and degradation of MAVS via recruitment of the E3 ligase ITCH, thereby attenuating MAVS-mediated apoptosis signaling (PubMed:27736772). As a macroautophagy/autophagy receptor, facilitates the xenophagic clearance of pathogenic bacteria such as Salmonella typhimurium and Mycobacterium tuberculosis (PubMed:26451915). Upon NBR1 recruitment to the SQSTM1-ubiquitin condensates, acts as the major recruiter of RB1CC1 to these ubiquitin condensates to promote their autophagic degradation (PubMed:33226137, PubMed:34471133). Mediates the autophagic degradation of other substrates including TICAM1 (PubMed:28898289)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 13, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D196;B4DKU7;E7ENV2;O60398;O95770;Q13311;Q9BQG5;Q9UI88", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0019900 kinase binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:0045087 innate immune response;GO:0006915 apoptotic process;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q86VP1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54709-1", "uniprot_id": [ { "id": "AT1B3_HUMAN", "url": "https://www.uniprot.org/uniprot/P54709", "type": "external" } ], "mass": 31513.0, "length": 279, "protein_name": "Sodium/potassium-transporting ATPase subunit beta-3", "gene_name": "ATP1B3", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit beta-3", "refseq_ac": [ { "id": "NP_001670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001670", "type": "external" } ], "gene_names_uniprotkb": "ATP1B3", "gene_names_refseq": "ATP1B3; ATPB-3; CD298", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit beta-3; ATPB-3; Sodium/potassium-dependent ATPase subunit beta-3", "protein_names_refseq": "ATPase, Na+/K+ transporting, beta 3 polypeptide; Na, K-ATPase beta-3 polypeptide; sodium pump subunit beta-3; sodium-potassium ATPase subunit beta 3 (non-catalytic); sodium/potassium-dependent ATPase subunit beta-3; sodium/potassium-transporting ATPase beta-3 chain; sodium/potassium-transporting ATPase subunit beta-3", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:483); (R-HSA-210991); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 5, "publication_count": 186, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10087012;10220561;10401004;10484781;10615129;10767338;10880960;10913253;10921872;11062458;11237011;11719518;11904675;11943775;12119109;12558975;12754519;12832055;12953268;14707126;15174025;15260953;15598648;15754088;15831496;15901826;15919184;15925480;15946952;16115318;16182249;16260747;16522641;1656976;16700898;16754674;1693919;17081065;17224452;17357072;17486119;17662961;17996943;18512783;18723824;18995841;19278978;19345671;19751721;19878721;20223979;20388710;21108950;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22972900;23090970;23196729;23328677;23362265;23481700;23549614;23610579;23641311;24190977;24272870;2430951;24392018;24584101;24715725;2477373;25502872;25576301;2559024;25801024;25813380;25880248;25994790;26002965;26154972;26768311;26992070;27067231;27600516;27846572;28228285;2838329;28425720;28467828;28645727;28832583;28904123;29242379;29393594;2953725;29557506;29632046;29632711;29741879;29786170;29789417;29945920;30201761;30315122;30429286;30524438;30573663;30779550;30792309;31048504;31154438;31217245;31611695;31844290;31848261;31937595;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32870666;32938616;32983136;33141586;33214551;33298915;33392160;33534085;33537174;33592498;33691108;33717175;33868261;33912179;33936100;33968037;33981976;34019948;34185709;34211107;34357683;34725712;34932366;35051231;35154160;35251023;35289036;35318648;35580925;35790431;36010968;36215666;36284347;36581221;37074911;38665916;39894887;40596516;6328127;6832622;7626145;7702581;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285;9360995;9457675", "class_list": "", "function": "ATP1B3 Restricts Hepatitis B Virus Replication Via Reducing the Expression of the Envelope Proteins., [RefSeq, PubMed]; Integrative Transcriptomic, Proteomic and Functional Analysis Reveals ATP1B3 as a Diagnostic and Potential Therapeutic Target in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 3 subunit. This gene encodes a beta 3 subunit. A pseudogene exists for this gene, and it is located on chromosome 2. [provided by RefSeq, Jul 2008]., [RefSeq]; These results demonstrate that CASPR1 binds with ATP1B3 and thereby contributes to the regulation of Na(+)/K(+)-ATPase maturation and trafficking to the plasma membrane in brain microvascular endothelial cells., [RefSeq, PubMed]; This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-3 subunit is not known., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; [Screening and identification of key genes ATP1B3 and ENAH in the progression of hepatocellular carcinoma: based on data mining and clinical validation]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 32, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1N7", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0051117 ATPase binding;GO:0001671 ATPase activator activity;GO:0141109 transporter activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0042470 melanosome", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0050821 protein stabilization;GO:0006883 intracellular sodium ion homeostasis;GO:0035725 sodium ion transmembrane transport;GO:0030007 intracellular potassium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "P54709-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVT9-1", "uniprot_id": [ { "id": "ARMC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVT9", "type": "external" } ], "mass": 31281.0, "length": 282, "protein_name": "Armadillo repeat-containing protein 1", "gene_name": "ARMC1", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001273631", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273631", "type": "external" } ], "gene_names_uniprotkb": "ARMC1; ARCP", "gene_names_refseq": "ARMC1; Arcp", "protein_names_uniprotkb": "Armadillo repeat-containing protein 1", "protein_names_refseq": "armadillo repeat-containing protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55156)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;18452278;18669648;19664995;19690332;20068231;20877624;22898188;23186163;25576301;25645385;25880248;26992070;27846572;27862975;27920218;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;30315122;30410026;30524438;30833945;31154438;31217245;31644573;31844290;31848261;32157095;32357974;32387766;32897882;33392160;33592498;33633747;33717175;33968037;34171305;34185709;34561969;35051231;35580925;36010968;36581221;37938771", "class_list": "", "function": "ArmC1 represents therefore a peripheral MICOS/MIB component that appears to play a role in mitochondrial distribution in the cell. Publication Status: Online-Only, [RefSeq, PubMed]; In association with mitochondrial contact site and cristae organizing system (MICOS) complex components and mitochondrial outer membrane sorting assembly machinery (SAM) complex components may regulate mitochondrial dynamics playing a role in determining mitochondrial length, distribution and motility., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E2W7;Q9H018;Q9H820", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:0048312 intracellular distribution of mitochondria", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9NVT9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1L9-1", "uniprot_id": [ { "id": "BATF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1L9", "type": "external" } ], "mass": 29398.0, "length": 274, "protein_name": "Basic leucine zipper transcriptional factor ATF-like 2", "gene_name": "BATF2", "organism": "Human", "refseq_name": "basic leucine zipper transcriptional factor ATF-like 2 isoform 2", "refseq_ac": [ { "id": "NP_001287736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287736", "type": "external" } ], "gene_names_uniprotkb": "BATF2", "gene_names_refseq": "BATF2; SARI", "protein_names_uniprotkb": "Basic leucine zipper transcriptional factor ATF-like 2; B-ATF-2; SARI; Suppressor of AP-1 regulated by IFN", "protein_names_refseq": "B-ATF-2; basic leucine zipper transcription factor, ATF-like 2; basic leucine zipper transcriptional factor ATF-like 2 isoform 2; basic leucine zipper transcriptional factor ATF-like 2; suppressor of AP-1 regulated by IFN", "tax_id": 9606, "disease": "", "pathway": " (hsa:116071)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;19074269;20473897;20531301;28904123;29242379;29485866;31844290;32157095;32357974;32488085;32938616;32983136;33123756;33912179;33968037;35051231;35580925;35949109;36672163;37151195;37777155;38282047", "class_list": "", "function": "AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system. Following infection, participates in the differentiation of CD8(+) thymic conventional dendritic cells in the immune system. Acts via the formation of a heterodimer with JUN family proteins that recognizes and binds DNA sequence 5'-TGA[CG]TCA-3' and regulates expression of target genes (By similarity). Selectively suppresses CCN1 transcription and hence blocks the downstream cell proliferation signals produced by CCN1 and inhibits CCN1-induced anchorage-independent growth and invasion in several cancer types, such as breast cancer, malignant glioma and metastatic melanoma. Possibly acts by interfering with AP-1 binding to CCN1 promoter., [UniProtKB, PubMed]; BATF2 inhibits PD-L1 expression and regulates CD8+ T-cell infiltration in non-small cell lung cancer., [RefSeq, PubMed]; Decreased expression of BATF2 is associated with hepatocellular carcinoma., [RefSeq, PubMed]; Exosomal miR-361-3p promotes the viability of breast cancer cells by targeting ETV7 and BATF2 to upregulate the PAI-1/ERK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of the Immunomodulatory Transcription Factor BATF2 in Humans Is Associated with a Neurological Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; M6A modification-mediated BATF2 suppresses metastasis and angiogenesis of tongue squamous cell carcinoma through inhibiting VEGFA., [RefSeq, PubMed]; Nuclear export of BATF2 enhances colorectal cancer proliferation through binding to CRM1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D9IC56;Q8NAF4;Q8NAL8;Q96EH4", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0042832 defense response to protozoan;GO:0043011 myeloid dendritic cell differentiation;GO:0140467 integrated stress response signaling", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8N1L9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUZ5-1", "uniprot_id": [ { "id": "AT2L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUZ5", "type": "external" } ], "mass": 49711.0, "length": 450, "protein_name": "5-phosphohydroxy-L-lysine phospho-lyase", "gene_name": "PHYKPL", "organism": "Human", "refseq_name": "5-phosphohydroxy-L-lysine phospho-lyase isoform 3", "refseq_ac": [ { "id": "NP_001265275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265275", "type": "external" } ], "gene_names_uniprotkb": "PHYKPL; AGXT2L2; PP9286", "gene_names_refseq": "AGXT2L2; PHLU; PHYKPL", "protein_names_uniprotkb": "5-phosphohydroxy-L-lysine phospho-lyase; 4.2.3.134; Alanine--glyoxylate aminotransferase 2-like 2", "protein_names_refseq": "5-phosphohydroxy-L-lysine phospho-lyase isoform 3; 5-phosphonooxy-L-lysine phospho-lyase; alanine--glyoxylate aminotransferase 2-like 2", "tax_id": 9606, "disease": "phosphohydroxylysinuria (MONDO:MONDO:0014008)", "pathway": " (hsa:85007); (R-HSA-1442490); (R-HSA-71064)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10049780;10551873;10642506;10775527;10809722;11013208;11083877;11119712;11237011;11577169;11927537;12126930;12579531;15005656;15257288;15274622;15498874;15950618;16491085;16825197;1704217;17088321;17242435;18056995;18056996;18622425;18775954;19885858;2005102;21593211;2169335;21935455;22241472;22382088;2253219;23242558;24043460;24715725;2537292;2548603;2551898;25576301;25931162;26992070;27920218;2834383;2845110;28904123;29493099;29557506;29632046;30315122;3038863;31092671;31844290;32157095;3223920;32357974;32387766;32938616;33298915;33912179;34087483;35051231;36010968;6258630;6270089;6434529;6694361;7890717;8463259;8576151;8920930;8999957;9092507;9651395", "class_list": "", "function": "Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde., [UniProtKB, PubMed]; Phosphohydroxylysinuria is due to mutations in the AGXT2L2 gene and the resulting lack of activity of phosphohydroxylysine phospholyase in vivo., [RefSeq, PubMed]; This is a nuclear gene encoding a mitochondrial enzyme that catalyzes the conversion of 5-phosphonooxy-L-lysine to ammonia, inorganic phosphate, and 2-aminoadipate semialdehyde. Mutations in this gene may cause phosphohydroxylysinuria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7P6;B3KN36;D3DWP9;Q8WYS6;Q96HW8", "ec_number_list": [ { "id": "4.2.3.134", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.3.134", "type": "external" } ], "go_molecular_function": "GO:0030170 pyridoxal phosphate binding;GO:0042802 identical protein binding;GO:0016829 lyase activity", "go_cellular_component": "GO:0005759 mitochondrial matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q8IUZ5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01780-1", "uniprot_id": [ { "id": "EXOSX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01780", "type": "external" } ], "mass": 100831.0, "length": 885, "protein_name": "Exosome complex component 10", "gene_name": "EXOSC10", "organism": "Human", "refseq_name": "exosome complex component 10 isoform 1", "refseq_ac": [ { "id": "NP_001001998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001998", "type": "external" } ], "gene_names_uniprotkb": "EXOSC10; PMSCL2; PMSCL; RRP6", "gene_names_refseq": "EXOSC10; PM-Scl; PM/Scl-100; PMSCL2; PMSCL; RRP6; Rrp6p; p2; p3; p4", "protein_names_uniprotkb": "Exosome complex component 10; 3.1.13.-; Autoantigen PM/Scl 2; P100 polymyositis-scleroderma overlap syndrome-associated autoantigen; PM/Scl-100; Polymyositis/scleroderma autoantigen 100 kDa; Polymyositis/scleroderma autoantigen 2", "protein_names_refseq": "P100 polymyositis-scleroderma overlap syndrome-associated autoantigen; autoantigen PM-SCL; exosome complex component 10 isoform 1; exosome complex component 10; polymyositis/scleroderma autoantigen 100 kDa; polymyositis/scleroderma autoantigen 2", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:5394); (R-HSA-6791226); (R-HSA-9930044)", "pathway_count": 3, "publication_count": 187, "publication_id_list": "10.1101/2023.09.13.557529;10203015;10465791;10759029;11237011;11426320;11922599;12068309;12150911;12429849;1383382;14527413;14731398;14978097;15231747;16037817;16043514;1644924;16455498;16738141;17145369;17174896;17189298;17234882;17353269;17412707;17545563;18065403;18172165;18438418;18452278;18991276;19056938;19106111;19332556;19564402;19801658;20038530;20056613;20368444;20531386;20531389;20699273;20798176;20805244;20819938;21036871;21063389;21097556;21705430;21855801;22072790;22190735;22195017;22916032;23186163;23439679;23481700;23482395;2388630;24366607;24424021;24550520;24714562;24715725;25114211;25218447;25418920;25505266;25525153;25576301;25578728;25632158;25645385;25772364;25880248;25892735;25969445;26154972;26166824;26237581;26375851;26728094;26758079;26811146;26857222;26992070;27397612;27434818;27846572;27862975;27871484;27920218;28063628;28218747;28228285;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29298432;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29906447;29930882;30315122;30429286;30484775;30524438;30538148;30779550;30833945;31086179;31154438;31217245;31222486;31530632;31844290;31848261;31950173;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32830871;32897882;32938616;32983136;33141586;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33767452;33912179;33913806;33968037;33981976;34019948;34087483;34171305;34229054;34509645;34516797;34725712;34932366;35051231;35083852;35154160;35251023;35318648;35561310;35580925;35902094;36010968;36241641;36284347;36912080;37217939;37701829;37875486;37938771;38279024;38665916;40596516;9482744", "class_list": "", "function": "Catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797). The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. EXOSC10 is required for nucleolar localization of C1D and probably mediates the association of MTREX, C1D and MPHOSPH6 with the RNA exosome involved in the maturation of 5.8S rRNA. Plays a role in the recruitment of replication protein A complex (RPA) and RAD51 to DNA double-strand breaks caused by irradiation, contributing to DNA repair by homologous recombination (PubMed:25632158, PubMed:31086179). Regulates levels of damage-induced RNAs in order to prevent DNA-RNA hybrid formation at DNA double-strand breaks and limit DNA end resection after damage (PubMed:31086179). Plays a role in oocyte development, maturation and survival (By similarity). Required for normal testis development and mitotic division of spermatogonia (By similarity). Plays a role in proper embryo development (By similarity). Required for global protein translation (PubMed:26857222, PubMed:36912080). Required for cell proliferation (PubMed:36912080). Regulates metabolism of C9orf72-derived repeat RNA that can be translated into toxic dipeptide repeat proteins (PubMed:32830871)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; EXOSC10 is a novel hepatocellular carcinoma prognostic biomarker: a comprehensive bioinformatics analysis and experiment verification. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia-driven deSUMOylation of EXOSC10 promotes adaptive changes in the transcriptome profile. Publication Status: Online-Only, [RefSeq, PubMed]; MPP6 stimulates both RRP6 and DIS3 to degrade a specified subset of MTR4-sensitive substrates in the human nucleus., [RefSeq, PubMed]; The ubiquitin-specific protease USP36 SUMOylates EXOSC10 and promotes the nucleolar RNA exosome function in rRNA processing., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B1AKQ0;B1AKQ1;Q15158", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0046872 metal ion binding;GO:0000166 nucleotide binding;GO:0003727 single-stranded RNA binding;GO:0000175 3'-5'-RNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071028 nuclear mRNA surveillance;GO:0006281 DNA repair;GO:0006396 RNA processing;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "Q01780-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H3BR10-1", "uniprot_id": [ { "id": "SMLR1_HUMAN", "url": "https://www.uniprot.org/uniprot/H3BR10", "type": "external" } ], "mass": 12312.0, "length": 107, "protein_name": "Small leucine-rich protein 1", "gene_name": "SMLR1", "organism": "Human", "refseq_name": "small leucine-rich protein 1", "refseq_ac": [ { "id": "NP_001182526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182526", "type": "external" } ], "gene_names_uniprotkb": "SMLR1", "gene_names_refseq": "SMLR1", "protein_names_uniprotkb": "Small leucine-rich protein 1", "protein_names_refseq": "small leucine-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507203)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "27862975;29557506;31154438;32357974;32387766;33968037;36053190", "class_list": "", "function": "Loss of hepatic SMLR1 causes hepatosteatosis and protects against atherosclerosis due to decreased hepatic VLDL secretion., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "H3BR10-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTG7-1", "uniprot_id": [ { "id": "SIR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTG7", "type": "external" } ], "mass": 43573.0, "length": 399, "protein_name": "NAD-dependent protein deacetylase sirtuin-3, mitochondrial", "gene_name": "SIRT3", "organism": "Human", "refseq_name": "NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001017524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017524", "type": "external" } ], "gene_names_uniprotkb": "SIRT3; SIR2L3", "gene_names_refseq": "SIR2L3; SIRT3", "protein_names_uniprotkb": "NAD-dependent protein deacetylase sirtuin-3, mitochondrial; 2.3.1.-; 2.3.1.286; NAD-dependent protein delactylase sirtuin-3; Regulatory protein SIR2 homolog 3; SIR2-like protein 3; hSIRT3", "protein_names_refseq": "NAD-dependent deacetylase sirtuin-3, mitochondrial; NAD-dependent protein deacetylase sirtuin-3, mitochondrial isoform b; NAD-dependent protein deacetylase sirtuin-3, mitochondrial; NAD-dependent protein delactylase sirtuin-3; SIR2-like protein 3; mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase; regulatory protein SIR2 homolog 3; silent mating type information regulation 2, S.cerevisiae, homolog 3; sir2-like 3; sirtuin type 3", "tax_id": 9606, "disease": "abdominal obesity-metabolic syndrome (Disease Ontology:DOID:0060611); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); Alzheimer's disease (Disease Ontology:DOID:10652); prediabetes syndrome (Disease Ontology:DOID:11716); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:23410); (R-HSA-2151201); (R-HSA-9615017); (R-HSA-9617629); (R-HSA-9841251); (R-HSA-9854311)", "pathway_count": 6, "publication_count": 93, "publication_id_list": "10102273;10217147;10358014;10381378;10412986;10480625;10643692;10713165;10913147;11139588;11237011;11340167;11779849;11809803;12186850;12239572;12374852;12563009;12745923;14976264;15220471;15247478;15684387;16079181;16079853;16783365;16788062;16840535;16890199;16908542;16911507;17031457;17437997;17715127;17923681;18215119;18343819;18680753;18794531;19001277;19356719;19417006;19535340;19628817;19951946;20068231;20167786;21172655;21536589;22416140;23283301;23438705;23665396;23897466;24028821;24040102;24121500;24252090;24954416;24954417;25645385;26141949;26749241;27426517;27547294;28228285;28380382;28391595;28887308;29242379;29445193;29557506;31844290;32302062;34289383;36896611;37392860;37720100;38146092;38548246;38556109;38626328;38916288;39168432;39524354;7629110;7799916;8108407;8333869;8455624;9178750;9286700;9989622", "class_list": "", "function": "HSIRT3 is a mitochondrial nicotinamide adenine dinucleotide-dependent deacetylase. hSIRT3 is proteolytically processed in the mitochondrial matrix to a 28-kD product., [RefSeq, PubMed]; NAD-dependent protein deacetylase (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:19535340, PubMed:23283301, PubMed:24121500, PubMed:24252090). Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues (PubMed:12186850, PubMed:12374852, PubMed:16788062, PubMed:18680753, PubMed:18794531, PubMed:23283301, PubMed:24121500, PubMed:24252090, PubMed:38146092). Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA, MRPL12 and the ATP synthase subunit ATP5PO (PubMed:16788062, PubMed:18680753, PubMed:19535340, PubMed:24121500, PubMed:24252090, PubMed:38146092). Contributes to the regulation of the cellular energy metabolism (PubMed:24252090). Important for regulating tissue-specific ATP levels (PubMed:18794531). In response to metabolic stress, deacetylates transcription factor FOXO3 and recruits FOXO3 and mitochondrial RNA polymerase POLRMT to mtDNA to promote mtDNA transcription (PubMed:23283301). Acts as a regulator of ceramide metabolism by mediating deacetylation of ceramide synthases CERS1, CERS2 and CERS6, thereby increasing their activity and promoting mitochondrial ceramide accumulation (By similarity). Regulates hepatic lipogenesis (By similarity). Uses NAD(+) substrate imported by SLC25A47, triggering downstream activation of PRKAA1/AMPK-alpha signaling cascade that ultimately downregulates sterol regulatory element-binding protein (SREBP) transcriptional activities and ATP-consuming lipogenesis to restore cellular energy balance (By similarity). In addition to protein deacetylase activity, also acts as a protein-lysine deacylase by recognizing other acyl groups, such as benzoyl and lactoyl, leading to protein debenzoylation and delactylation, respectively (PubMed:39524354, PubMed:36896611, PubMed:37720100). Catalyzes debenzoylation of PPIF and ACLY (PubMed:37720100). Mediates delactylation of CCNE2 and 'Lys-16' of histone H4 (H4K16la) (PubMed:36896611, PubMed:37720100)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NAD-dependent protein deacetylase., [UniProtKB, UniProtKB]; Quantitative analysis of the lysine acetylome reveals the role of SIRT3-mediated HSP60 deacetylation in suppressing intracellular Mycobacterium tuberculosis survival., [RefSeq, PubMed]; SIRT3 and SIRT4 double-genes remodeled the mitochondrial network to induce hepatocellular carcinoma cell line differentiation and suppress malignant phenotypes., [RefSeq, PubMed]; SIRT3 encodes a member of the sirtuin family of class III histone deacetylases, homologs to the yeast Sir2 protein. The encoded protein is found exclusively in mitochondria, where it can eliminate reactive oxygen species, inhibit apoptosis, and prevent the formation of cancer cells. SIRT3 has far-reaching effects on nuclear gene expression, cancer, cardiovascular disease, neuroprotection, aging, and metabolic control. [provided by RefSeq, May 2019]., [RefSeq]; SIRT3 sulfhydration using hydrogen sulfide inhibited angiotensin II-induced atrial fibrosis and vulnerability to atrial fibrillation via suppression of the TGF-beta1/smad2/3 signalling pathway., [RefSeq, PubMed]; SIRT3 suppression resulting from the enhanced beta-catenin signaling drives glycolysis and promotes hypoxia-induced cell growth in hepatocellular carcinoma cells., [RefSeq, PubMed]; Sex-related differences in SIRT3-mediated mitochondrial dynamics in renal ischemia/reperfusion injury., [RefSeq, PubMed]; The role of SIRT3 in mitochondria involves protein deacetylation, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5U6;Q9Y6E8", "ec_number_list": [ { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.15.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.15.1.1", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0070403 NAD+ binding;GO:0043565 sequence-specific DNA binding;GO:0017136 histone deacetylase activity, NAD-dependent", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0032991 protein-containing complex", "go_biological_process": "GO:1902553 positive regulation of catalase activity;GO:0032024 positive regulation of insulin secretion;GO:2000378 negative regulation of reactive oxygen species metabolic process;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0033554 cellular response to stress", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9NTG7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L4H1-1", "uniprot_id": [ { "id": "SRCRL_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L4H1", "type": "external" } ], "mass": 165743.0, "length": 1573, "protein_name": "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D", "gene_name": "SSC5D", "organism": "Human", "refseq_name": "soluble scavenger receptor cysteine-rich domain-containing protein SSC5D isoform 1 precursor", "refseq_ac": [ { "id": "NP_001138422", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138422", "type": "external" } ], "gene_names_uniprotkb": "SSC5D", "gene_names_refseq": "S5D-SRCRB; SSC5D", "protein_names_uniprotkb": "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; SSc5D; Soluble scavenger protein with 5 SRCR domains", "protein_names_refseq": "scavenger receptor cysteine rich domain containing (5 domains); scavenger receptor cysteine rich family, 5 domains; scavenger receptor cysteine-rich glycoprotein; soluble scavenger protein with 5 SRCR domains; soluble scavenger receptor cysteine-rich domain-containing protein SSC5D isoform 1 precursor; soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; soluble scavenger with 5 domains", "tax_id": 9606, "disease": "", "pathway": " (hsa:284297); (R-HSA-3000471)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10.1038/emboj.2013.79;10103054;10734051;10772654;10938017;11237011;11861652;11988484;12105195;12138091;12651854;12947091;14726519;15576377;15690042;15866482;16030018;16276419;16368683;16488891;17101731;17710648;17876058;18458151;18558917;19237602;19535143;19740737;23584533;24583716;25576301;25892735;27790215;27846572;27893789;28411811;28832583;29508533;29557506;30459171;31492838;31848261;32157095;32387766;32488085;32938616;33592498;33633747;34525359;35051231;7536797;7685021;7688729;9148942;9211901;9254056;9409200;9834113", "class_list": "", "function": "Binds to extracellular matrix proteins. Binds to pathogen-associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces (By similarity)., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 9, "predicted_n_glycosites": 3, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 23, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 23, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 23, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 32, "binding_glycan_count": 0, "secondary_ac_list": "B5MDQ5;C7S7T9;C7S7U0;K7EP70", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0043236 laminin binding;GO:0050840 extracellular matrix binding;GO:0001968 fibronectin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0042494 detection of bacterial lipoprotein;GO:0006952 defense response;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "A1L4H1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30518-1", "uniprot_id": [ { "id": "V2R_HUMAN", "url": "https://www.uniprot.org/uniprot/P30518", "type": "external" } ], "mass": 40279.0, "length": 371, "protein_name": "Vasopressin V2 receptor", "gene_name": "AVPR2", "organism": "Human", "refseq_name": "vasopressin V2 receptor isoform 1", "refseq_ac": [ { "id": "NP_000045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000045", "type": "external" } ], "gene_names_uniprotkb": "AVPR2; ADHR; DIR3; DIR; V2R", "gene_names_refseq": "ADHR; AVPR2; DI1; DIR3; DIR; NDI1; NDI; V2R", "protein_names_uniprotkb": "Vasopressin V2 receptor; AVPR V2; Antidiuretic hormone receptor; Renal-type arginine vasopressin receptor; V2R", "protein_names_refseq": "AVPR V2; antidiuretic hormone receptor; renal-type arginine vasopressin receptor; vasopressin V2 receptor isoform 1; vasopressin V2 receptor", "tax_id": 9606, "disease": "X-linked nephrogenic diabetes insipidus (Disease Ontology:DOID:0081060); nephrogenic syndrome of inappropriate antidiuresis (Disease Ontology:DOID:0112121); hypertension (Disease Ontology:DOID:10763); nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); ureteral obstruction (Disease Ontology:DOID:5199)", "pathway": " (hsa:554); (R-HSA-388479); (R-HSA-418555); (R-HSA-432040); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9036092)", "pathway_count": 7, "publication_count": 390, "publication_id_list": "10097102;10369876;10436022;10477431;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10649434;10694923;10766823;10769163;10770218;10820167;10820168;10983987;11007482;11026555;11034202;11071885;11076969;11076974;11082044;11231140;11232028;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11793119;11877457;11877461;11889126;11916004;11919637;11927540;11968001;11988742;12036966;12057195;12058044;12086608;12106601;12107248;12180353;12194985;12213833;12221107;12234931;12429842;12436935;12446593;12447393;12451172;12464600;12717448;12801959;12847086;12860470;12944396;12952949;12958364;1303257;1303271;1313946;1317852;13549488;1356229;1373524;1415251;14514735;14555962;14581451;14592814;14617351;14622578;14622579;14662753;14671004;14673472;14701836;14726597;1510932;15134832;1517224;15252009;15260957;15318165;15327388;15339664;1534149;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15703994;15728179;15765929;15769620;15802264;15872203;15895077;15916959;15951850;16103228;16120822;16159959;16215232;16313925;16326391;16333859;16407073;16407156;16410077;16459302;16460808;16516836;16672911;16687412;16707488;16723738;16798879;16845277;16880396;16903783;16923326;16959974;17018281;17035995;17105757;17156409;17158794;17168849;17178220;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17699341;17713526;17762867;17765681;17978091;18032517;18044684;18093523;18166656;18199683;18202181;18388313;1847920;18508290;18511455;18577758;18578504;18678926;18775314;18790740;18819912;18981233;19092055;19105585;19140243;19144687;19170255;19287005;19296720;19383790;19440390;19458185;19536138;19574955;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;19876791;19929708;20033059;20059951;20211604;20231386;20351096;20381629;20428113;20448150;20463780;20826345;20946875;20973922;21036126;21056967;21102408;2115402;2115785;21187331;21278753;21316588;21445324;21482805;21499258;21613550;2163110;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23236378;23297414;23360744;23536704;23823722;23861397;23891661;24130457;2417744;24186068;24384571;24581490;24680432;24687066;24715725;24746795;24766294;24789820;2491850;24966051;25107275;25303366;25341920;2553411;2553705;26042225;26403691;26417854;26829388;2871555;2890644;29443750;29557506;29602314;2991279;30303493;3049610;30833991;30962532;3104109;31154438;3127824;31279028;31399091;31848261;31983287;32226383;32497535;32540603;32618402;32715661;32917711;33049737;33664408;33742150;33888704;34101133;3417785;35051231;35503085;35901021;37209686;38253038;38972875;4061066;4065330;6085243;6146630;6401806;7503232;7510718;7526388;7535000;7538665;7560098;7569928;7607658;7678419;7714110;7802081;7822302;7833930;7877694;7913579;7929452;7933835;7984150;7987330;7999078;8037205;8045948;8063828;8078903;8103767;8106369;8140421;8267567;8340388;8479490;8514744;8514797;8514868;8524399;8552632;8553074;8621513;8672451;8683474;8735975;8837779;8855281;8882880;8929875;9092476;9100026;9127330;9169477;9224808;9227644;9263355;9264324;9303539;9369448;9369468;9374639;9374640;9402087;9417641;9427626;9428629;9452109;9459574;9467595;9581826;9635431;9651149;9651336;9711877;9723620;9736607;9756892;9773787;9812899;9829975;9853256;9884074", "class_list": "", "function": "Exploiting Dependence of Castration-Resistant Prostate Cancer on the Arginine Vasopressin Signaling Axis by Repurposing Vaptans., [RefSeq, PubMed]; G protein-coupled receptor for arginine vasopressin, an antidiuretic that promotes renal water reabsorption (PubMed:1534149, PubMed:19440390, PubMed:33664408, PubMed:33742150). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (cAMP) (PubMed:33664408, PubMed:33742150). AVPR2 is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity (PubMed:33664408, PubMed:33742150)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; G-protein-coupled receptor for arginine vasopressin, an antidiuretic that promotes renal water reabsorption. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors, such as adenylate cyclase (cAMP). AVPR2 is coupled to G(s) G alpha proteins and mediates activation of adenylate cyclase activity., [UniProtKB, UniProtKB, UniProtKB]; Galphas and Galphaq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus., [RefSeq, PubMed]; Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus., [RefSeq, PubMed]; Role of the V2R-betaarrestin-Gbetagamma complex in promoting G protein translocation to endosomes. Publication Status: Online-Only, [RefSeq, PubMed]; Structural studies of phosphorylation-dependent interactions between the V2R receptor and arrestin-2. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that includes the V2 receptor, the V1a and V1b vasopressin receptors, the oxytocin receptor, and isotocin and mesotocin receptors in non-mammals, is well conserved, though several members signal via other G proteins. All bind similar cyclic nonapeptide hormones. The V2 receptor is expressed in the kidney tubule, predominantly in the distal convoluted tubule and collecting ducts, where its primary property is to respond to the pituitary hormone arginine vasopressin (AVP) by stimulating mechanisms that concentrate the urine and maintain water homeostasis in the organism. When the function of this gene is lost, the disease Nephrogenic Diabetes Insipidus (NDI) results. The V2 receptor is also expressed outside the kidney although its tissue localization is uncertain. When these 'extrarenal receptors' are stimulated by infusion of a V2 selective agonist (dDAVP), a variety of clotting factors are released into the bloodstream. The physiologic importance of this property is not known - its absence does not appear to be detrimental in NDI patients. The gene expression has also been described in fetal lung tissue and lung cancer associated with alternative splicing. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C5HF20;O43192;Q3MJD3;Q9UCV9", "ec_number_list": [], "go_molecular_function": "GO:0005000 vasopressin receptor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007190 activation of adenylate cyclase activity;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 39.3, "record_id": "P30518-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99871-1", "uniprot_id": [ { "id": "HAUS7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99871", "type": "external" } ], "mass": 39794.0, "length": 358, "protein_name": "HAUS augmin-like complex subunit 7", "gene_name": "HAUS7", "organism": "Human", "refseq_name": "HAUS augmin-like complex subunit 7 isoform 2", "refseq_ac": [ { "id": "NP_001372410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001372410", "type": "external" } ], "gene_names_uniprotkb": "HAUS7; UCHL5IP; UIP1", "gene_names_refseq": "HAUS7; UCHL5IP; UIP1", "protein_names_uniprotkb": "HAUS augmin-like complex subunit 7; 26S proteasome-associated UCH37-interacting protein 1; UCHL5-interacting protein; X-linked protein STS1769", "protein_names_refseq": "26S proteasome-associated UCH37-interacting protein 1; HAUS augmin-like complex subunit 7 isoform 2; X-linked protein STS1769", "tax_id": 9606, "disease": "", "pathway": " (hsa:55559); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 77, "publication_id_list": "11076968;11163772;11237011;11278605;11956313;12207013;12221128;12364337;12852856;13678582;14580337;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18669648;18694559;18801063;19004860;19081074;19369198;19427217;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23301498;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24982133;25047611;25313408;25532896;30723163;33402344;7769006;7790358;8838651;9099879", "class_list": "", "function": "Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex., [UniProtKB, PubMed, PubMed]; Discusses transcript evidence for TREX1 and TREX2, as well as readthrough transcripts with upstream loci ATRIP and HAUS7., [RefSeq, PubMed]; This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DUH6;D3DWT9;Q96HS8;Q9NP54;Q9UFH9", "ec_number_list": [], "go_molecular_function": "GO:0031996 thioesterase binding;GO:0051011 microtubule minus-end binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0070652 HAUS complex;GO:1990498 mitotic spindle microtubule", "go_biological_process": "GO:0010968 regulation of microtubule nucleation;GO:0051301 cell division;GO:0007098 centrosome cycle;GO:0051225 spindle assembly;GO:0031023 microtubule organizing center organization", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q99871-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUR7-1", "uniprot_id": [ { "id": "ARMC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUR7", "type": "external" } ], "mass": 75509.0, "length": 673, "protein_name": "Armadillo repeat-containing protein 8", "gene_name": "ARMC8", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 8 isoform 3", "refseq_ac": [ { "id": "NP_001253970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001253970", "type": "external" } ], "gene_names_uniprotkb": "ARMC8; S863-2", "gene_names_refseq": "ARMC8; GID5; HSPC056; S863-2; VID28", "protein_names_uniprotkb": "Armadillo repeat-containing protein 8", "protein_names_refseq": "GID complex subunit 5, VID28 homolog; armadillo repeat-containing protein 8 isoform 3; armadillo repeat-containing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:25852); (R-HSA-6798695); (R-HSA-9861718)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "11237011;17467196;18387606;22499340;23186163;23481700;23650620;24366607;24714562;24715725;24894675;25119601;25505266;25576301;25645385;25880248;26081621;26154972;26232863;26375851;26728094;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28411811;28832583;28860189;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;29911972;30315122;30524438;30833945;31154438;31530632;31735643;31844290;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33462636;33691108;33717175;33912179;33936100;33968037;33981976;34016486;34087483;34171305;34211107;34405274;34509645;35051231;35154160;35526384;35580925;36010968;36215666;36241641;37217939;37400847;40914422;7757881;8692836", "class_list": "", "function": "ARMc8 may enhance the invasion and metastasis of ovarian cancer cells, [RefSeq, PubMed]; Armc8 expression was elevated during atypia-to-carcinoma progression and associated with cancer development of breast carcinoma., [RefSeq, PubMed]; Component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1., [UniProtKB, PubMed]; Data suggest that armadillo repeat containing protein 8 (ARMC8) might serve as a therapeutic target in non-small cell lung cancer (NSCLC)., [RefSeq, PubMed]; Downregulation of ARMC8 promotes tumorigenesis through activating Wnt/beta-catenin pathway and EMT in cutaneous squamous cell carcinomas., [RefSeq, PubMed]; Invasiveness and migration capacity of HT29 cells transfected with ARMc8 were significantly greater than those of control cells (p < 0.001), while ARMc8 siRNA treatment significantly reduced cell invasion and migration in LoVo cells, [RefSeq, PubMed]; MiR-455-3p inhibits gastric cancer progression by repressing Wnt/beta-catenin signaling through binding to ARMC8. Publication Status: Online-Only, [RefSeq, PubMed]; RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0L2;B7Z441;B7Z453;D3DNE6;F5GWK4;Q6PIL2;Q96D19;Q96HZ5;Q9NV02;Q9NV94;Q9Y4R9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q8IUR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06493-1", "uniprot_id": [ { "id": "CDK1_HUMAN", "url": "https://www.uniprot.org/uniprot/P06493", "type": "external" } ], "mass": 34095.0, "length": 297, "protein_name": "Cyclin-dependent kinase 1", "gene_name": "CDK1", "organism": "Human", "refseq_name": "cyclin-dependent kinase 1 isoform 1", "refseq_ac": [ { "id": "NP_001307847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307847", "type": "external" } ], "gene_names_uniprotkb": "CDK1; CDC28A; CDC2; CDKN1; P34CDC2", "gene_names_refseq": "CDC28A; CDC2; CDK1; P34CDC2", "protein_names_uniprotkb": "Cyclin-dependent kinase 1; 2.7.11.22; 2.7.11.23; CDK1; Cell division control protein 2 homolog; Cell division protein kinase 1; p34 protein kinase", "protein_names_refseq": "cell cycle controller CDC2; cell division control protein 2 homolog; cell division cycle 2, G1 to S and G2 to M; cell division protein kinase 1; cyclin-dependent kinase 1 isoform 1; p34 protein kinase", "tax_id": 9606, "disease": "urinary bladder cancer (Disease Ontology:DOID:11054); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); transitional cell carcinoma (Disease Ontology:DOID:2671); gallbladder adenocarcinoma (Disease Ontology:DOID:3500); cervical cancer (Disease Ontology:DOID:4362); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:983); (R-HSA-110056); (R-HSA-113507); (R-HSA-1362300); (R-HSA-162658); (R-HSA-174048); (R-HSA-174184); (R-HSA-176408); (R-HSA-176412); (R-HSA-176417); (R-HSA-2299718); (R-HSA-2465910); (R-HSA-2500257); (R-HSA-2514853); (R-HSA-2565942); (R-HSA-2980767); (R-HSA-2995383); (R-HSA-3301854); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-4419969); (R-HSA-5620912); (R-HSA-5687128); (R-HSA-5689896); (R-HSA-6804114); (R-HSA-6804757); (R-HSA-68875); (R-HSA-69205); (R-HSA-69273); (R-HSA-69478); (R-HSA-75035); (R-HSA-8852276); (R-HSA-8854518); (R-HSA-8878166); (R-HSA-9833482)", "pathway_count": 37, "publication_count": 993, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry., [UniProtKB, PubMed]; Enhanced radiosensitivity of pancreatic cancer achieved through inhibition of Cyclin-dependent kinase 1., [RefSeq, PubMed]; Multiple Functional Protein-Protein Interaction Interfaces Allosterically Regulate ATP-Binding in Cyclin-Dependent Kinase-1., [RefSeq, PubMed]; Plays a key role in the control of the eukaryotic cell cycle by modulating the centrosome cycle as well as mitotic onset; promotes G2-M transition via association with multiple interphase cyclins (PubMed:16407259, PubMed:16933150, PubMed:17459720, PubMed:18356527, PubMed:19509060, PubMed:19917720, PubMed:20171170, PubMed:20935635, PubMed:20937773, PubMed:21063390, PubMed:2188730, PubMed:23355470, PubMed:2344612, PubMed:23601106, PubMed:23602554, PubMed:25556658, PubMed:26829474, PubMed:27814491, PubMed:30139873, PubMed:30704899, PubMed:40440427). Phosphorylates PARVA/actopaxin, APC, AMPH, APC, ASB7, BARD1, Bcl-xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C, CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB, CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR, FANCG, FOS, GFAP, GOLGA2/GM130, GRASP1, UBE2A/hHR6A, HIST1H1 proteins/histone H1, HMGA1, HIVEP3/KRC, UHRF1, KAT5, LMNA, LMNB, LBR, MKI67, LATS1, MAP1B, MAP4, MARCKS, MCM2, MCM4, MKLP1, MLST8, MYB, NEFH, NFIC, NPC/nuclear pore complex, PITPNM1/NIR2, NPM1, NCL, NUCKS1, NPM1/numatrin, ORC1, PRKAR2A, EEF1E1/p18, EIF3F/p47, p53/TP53, NONO/p54NRB, PAPOLA, PLEC/plectin, RB1, TPPP, UL40/R2, RAB4A, RAP1GAP, RBBP8/CtIP, RCC1, RPS6KB1/S6K1, KHDRBS1/SAM68, ESPL1, SKI, BIRC5/survivin, STIP1, TEX14, beta-tubulins, MAPT/TAU, NEDD1, VIM/vimentin, TK1, FOXO1, RUNX1/AML1, SAMHD1, SIRT2, CGAS, GLI2 and RUNX2 (PubMed:16407259, PubMed:16933150, PubMed:17459720, PubMed:18356527, PubMed:19202191, PubMed:19509060, PubMed:19917720, PubMed:20171170, PubMed:20935635, PubMed:20937773, PubMed:21063390, PubMed:2188730, PubMed:22411829, PubMed:23355470, PubMed:2344612, PubMed:23601106, PubMed:23602554, PubMed:25012651, PubMed:25556658, PubMed:26829474, PubMed:27814491, PubMed:30704899, PubMed:31279575, PubMed:32351706, PubMed:34741373, PubMed:40440427). CDK1/CDC2-cyclin-B controls pronuclear union in interphase fertilized eggs (PubMed:18480403, PubMed:20360007). Essential for early stages of embryonic development (PubMed:18480403, PubMed:20360007). During G2 and early mitosis, CDC25A/B/C-mediated dephosphorylation activates CDK1/cyclin complexes which phosphorylate several substrates that trigger at least centrosome separation, Golgi dynamics, nuclear envelope breakdown and chromosome condensation (PubMed:18480403, PubMed:20360007, PubMed:2188730, PubMed:2344612, PubMed:30139873). Once chromosomes are condensed and aligned at the metaphase plate, CDK1 activity is switched off by WEE1- and PKMYT1-mediated phosphorylation to allow sister chromatid separation, chromosome decondensation, reformation of the nuclear envelope and cytokinesis (PubMed:18480403, PubMed:20360007). Phosphorylates KRT5 during prometaphase and metaphase (By similarity). Activated by the CDK-activating kinase (CAK) complex consisting of CDK7, cyclin-H/CCNH and MAT1, which is a master regulator of CDK activity (PubMed:41100585). Inactivated by PKR/EIF2AK2- and WEE1-mediated phosphorylation upon DNA damage to stop cell cycle and genome replication at the G2 checkpoint thus facilitating DNA repair (PubMed:20360007). Reactivated after successful DNA repair through WIP1-dependent signaling leading to CDC25A/B/C-mediated dephosphorylation and restoring cell cycle progression (PubMed:20395957). Catalyzes lamin (LMNA, LMNB1 and LMNB2) phosphorylation at the onset of mitosis, promoting nuclear envelope breakdown (PubMed:2188730, PubMed:2344612, PubMed:37788673). In proliferating cells, CDK1-mediated FOXO1 phosphorylation at the G2-M phase represses FOXO1 interaction with 14-3-3 proteins and thereby promotes FOXO1 nuclear accumulation and transcription factor activity, leading to cell death of postmitotic neurons (PubMed:18356527). The phosphorylation of beta-tubulins regulates microtubule dynamics during mitosis (PubMed:16371510). NEDD1 phosphorylation promotes PLK1-mediated NEDD1 phosphorylation and subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation (PubMed:19509060). In addition, CC2D1A phosphorylation regulates CC2D1A spindle pole localization and association with SCC1/RAD21 and centriole cohesion during mitosis (PubMed:20171170). The phosphorylation of Bcl-xL/BCL2L1 after prolongated G2 arrest upon DNA damage triggers apoptosis (PubMed:19917720). In contrast, CASP8 phosphorylation during mitosis prevents its activation by proteolysis and subsequent apoptosis (PubMed:20937773). This phosphorylation occurs in cancer cell lines, as well as in primary breast tissues and lymphocytes (PubMed:20937773). EZH2 phosphorylation promotes H3K27me3 maintenance and epigenetic gene silencing (PubMed:20935635). CALD1 phosphorylation promotes Schwann cell migration during peripheral nerve regeneration (By similarity). CDK1-cyclin-B complex phosphorylates NCKAP5L and mediates its dissociation from centrosomes during mitosis (PubMed:26549230). Regulates the amplitude of the cyclic expression of the core clock gene BMAL1 by phosphorylating its transcriptional repressor NR1D1, and this phosphorylation is necessary for SCF(FBXW7)-mediated ubiquitination and proteasomal degradation of NR1D1 (PubMed:27238018). Phosphorylates EML3 at 'Thr-881' which is essential for its interaction with HAUS augmin-like complex and TUBG1 (PubMed:30723163). Phosphorylates CGAS during mitosis, leading to its inhibition, thereby preventing CGAS activation by self DNA during mitosis (PubMed:32351706). Phosphorylates SKA3 on multiple sites during mitosis which promotes SKA3 binding to the NDC80 complex and anchoring of the SKA complex to kinetochores, to enable stable attachment of mitotic spindle microtubules to kinetochores (PubMed:28479321, PubMed:31804178, PubMed:32491969)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SRSF9 promotes cell proliferation and migration of glioblastoma through enhancing CDK1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2023]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 27, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7C4;C9J497;O60764", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "3.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.4", "type": "external" }, { "id": "1.3.1.70", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.70", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0001618 virus receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:1902850 microtubule cytoskeleton organization involved in mitosis;GO:0006281 DNA repair;GO:0007077 mitotic nuclear membrane disassembly;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 99.6, "record_id": "P06493-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6Y1H2-1", "uniprot_id": [ { "id": "HACD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6Y1H2", "type": "external" } ], "mass": 28368.0, "length": 254, "protein_name": "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2", "gene_name": "HACD2", "organism": "Human", "refseq_name": "very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform b", "refseq_ac": [ { "id": "NP_940684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940684", "type": "external" } ], "gene_names_uniprotkb": "HACD2; PTPLB", "gene_names_refseq": "HACD2; PTPLB", "protein_names_uniprotkb": "Very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2; 3-hydroxyacyl-CoA dehydratase 2; 4.2.1.134; HACD2; Protein-tyrosine phosphatase-like member B", "protein_names_refseq": "protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b; protein-tyrosine phosphatase-like member B; very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2 isoform b; very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase 2; very-long-chain (3R)-3-hydroxyacyl-[acyl-carrier protein] dehydratase 2", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:201562); (R-HSA-75876)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10548543;10954726;11237011;11889465;12371743;12482854;12525535;12975357;15024066;15469937;16036915;16371355;17379924;17681178;17762044;18003621;18554506;18728184;19505953;19826053;20937905;21959040;23481700;25732826;28510447;28784662;28904123;29437277;29557506;30429286;31844290;32157095;32357974;32488085;32938616;33141586;33298915;33392160;33537174;33968037;34087483;34171305;34357683;35051231;35318648;35580925;36010968;37938771;38422897;38665916;8075637", "class_list": "", "function": "Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process, allows the addition of two carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of fatty acid elongation. Thereby, it participates to the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators., [UniProtKB, UniProtKB, UniProtKB]; Catalyzes the third of the very long-chain fatty acids (VLCFA) elongation four-step cycle (condensation, reduction, dehydration, and reduction). This endoplasmic reticulum-elongation process is characterized by the addition of two carbons to the lipid chain through each cycle. This enzyme catalyzes the dehydration of the 3-hydroxyacyl-CoA intermediate into trans-2,3-enoyl-CoA, within each cycle of elongation. Therefore, it participates in the production of various VLCFAs involved in multiple biological processes as precursors of membrane lipids and lipid mediators., [UniProtKB, PubMed]; Data describe a novel human member of the protein tyrosine phosphatase-like B (PTPLB) family, an integral protein of the endoplasmic reticulum membrane, as a BAP31-interacting protein., [RefSeq, PubMed]; Mutations in HACD1 can result in myopathies in humans; knockout mice lacking Hacd1 develop myopathic phenotypes. Data (including data from studies using knockout mice and cultured cells from knockout mice) suggest that HACD1 and HACD2 exhibit overlapping substrate specificities and thus appear to represent redundant activities in skeletal muscle., [RefSeq, PubMed]; The 3-hydroxyacyl-CoA dehydratase 1/2 form complex with trans-2-enoyl-CoA reductase involved in substrates transfer in very long chain fatty acid elongation., [RefSeq, PubMed]; The protein encoded by this gene can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "4.2.1.134", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.134", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" }, { "id": "4.2.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.107", "type": "external" }, { "id": "4.2.1.119", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.119", "type": "external" } ], "go_molecular_function": "GO:0019899 enzyme binding;GO:0018812 3-hydroxyacyl-CoA dehydratase activity;GO:0102158 very-long-chain (3R)-3-hydroxyacyl-CoA dehydratase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030148 sphingolipid biosynthetic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0030497 fatty acid elongation;GO:0042761 very long-chain fatty acid biosynthetic process;GO:0006633 fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q6Y1H2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB49-1", "uniprot_id": [ { "id": "AT11C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB49", "type": "external" } ], "mass": 129477.0, "length": 1132, "protein_name": "Phospholipid-transporting ATPase IG", "gene_name": "ATP11C", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase IG isoform b", "refseq_ac": [ { "id": "NP_001010986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010986", "type": "external" } ], "gene_names_uniprotkb": "ATP11C; ATPIG; ATPIQ", "gene_names_refseq": "ATP11C; ATPIG; ATPIQ; HACXL", "protein_names_uniprotkb": "Phospholipid-transporting ATPase IG; 7.6.2.1; ATPase IQ; ATPase class VI type 11C; P4-ATPase flippase complex alpha subunit ATP11C", "protein_names_refseq": "ATPase, class VI, type 11C; P4-ATPase flippase complex alpha subunit ATP11C; phospholipid-transporting ATPase IG isoform b; probable phospholipid-transporting ATPase IG", "tax_id": 9606, "disease": "X-linked congenital hemolytic anemia (Disease Ontology:DOID:0111846)", "pathway": " (hsa:286410); (R-HSA-936837)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;15533723;15831496;15919184;15925480;16182249;1656976;16700898;16959974;17525332;18077418;18669648;18723824;19345671;19413330;19651622;19664994;19878721;20068231;2160952;21914794;22186024;23186163;23196729;24392018;24714562;24904167;25315773;25645385;26375851;26567335;26728094;26944472;26992070;27067231;27920218;28218747;28228285;28467828;28832583;28834231;28855257;28871256;28904123;29123098;29242379;29314611;29437277;29508533;29557506;29632046;29632711;29769354;30315122;30484775;30524438;30573663;30779550;31844290;32350084;32357974;32387766;32493773;32502341;32897882;32938616;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34357683;34651249;35051231;35154160;35251023;35580925;36010968;36162506;36215666;36753036;37671681;37938771;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia., [RefSeq, PubMed]; ATP11C promotes the differentiation of pre-B cells into immature B cells but does not affect their IL-7-dependent proliferation., [RefSeq, PubMed]; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane. Major PS-flippase in immune cell subsets. In erythrocyte plasma membrane, it is required to maintain PS in the inner leaflet preventing its exposure on the surface. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized PS is a phagocytic signal for erythrocyte clearance by splenic macrophages. Required for B cell differentiation past the pro-B cell stage. Seems to mediate PS flipping in pro-B cells. May be involved in the transport of cholestatic bile acids., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The ratio of ATP11C/PLSCR1 mRNA transcripts has clinical significance in sickle cell anemia., [RefSeq, PubMed]; Two types of type IV P-type ATPases independently re-establish the asymmetrical distribution of phosphatidylserine in plasma membranes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 26, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JT69;Q5JT70;Q5JT71;Q5JT72;Q5JT73;Q6ZND5;Q6ZU50;Q6ZUP7;Q70IJ9;Q70IK0;Q8WX24", "ec_number_list": [ { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0090555 phosphatidylethanolamine flippase activity;GO:0090556 phosphatidylserine floppase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0034220 monoatomic ion transmembrane transport;GO:0045332 phospholipid translocation;GO:0002329 pre-B cell differentiation;GO:0045579 positive regulation of B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q8NB49-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14680-1", "uniprot_id": [ { "id": "MELK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14680", "type": "external" } ], "mass": 74642.0, "length": 651, "protein_name": "Maternal embryonic leucine zipper kinase", "gene_name": "MELK", "organism": "Human", "refseq_name": "maternal embryonic leucine zipper kinase isoform 2", "refseq_ac": [ { "id": "NP_001243614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243614", "type": "external" } ], "gene_names_uniprotkb": "MELK; KIAA0175", "gene_names_refseq": "HPK38; MELK", "protein_names_uniprotkb": "Maternal embryonic leucine zipper kinase; 2.7.10.2; 2.7.11.1; Protein kinase Eg3; Protein kinase PK38; Tyrosine-protein kinase MELK; hMELK; hPK38; pEg3 kinase", "protein_names_refseq": "maternal embryonic leucine zipper kinase isoform 2; pEg3 kinase; protein kinase Eg3; protein kinase PK38; tyrosine-protein kinase MELK", "tax_id": 9606, "disease": "", "pathway": " (hsa:9833)", "pathway_count": 1, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11802789;12400006;14699119;14976552;15908796;16159311;16216881;16266996;16628004;17016520;17081983;17280616;17344846;17722061;17960622;18452278;18669648;18691976;19369195;19651622;19664994;19671159;19690332;19901323;20420823;20861186;21145462;21558073;21806965;22645359;23186163;23922895;24715725;25576301;26154972;26992070;27846572;28218747;28228285;28514659;28832583;28904123;29242379;29437277;29493099;30315122;30379171;30410026;30484775;30779550;31154438;31217245;31844290;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35251023;35494241;35561310;35580925;36010968;36215666;36241641;37377604;37888771;38279017;38376289;38652219", "class_list": "", "function": "Cyclosporin A inhibits prostate cancer growth through suppression of E2F8 transcription factor in a MELK-dependent manner., [RefSeq, PubMed]; Decoding the significant diagnostic and prognostic importance of maternal embryonic leucine zipper kinase in human cancers through deep integrative analyses., [RefSeq, PubMed]; Exploration of MELK as a downstream of Del-1 and druggable targets in triple-negative breast cancer., [RefSeq, PubMed]; MELK aggravates lung adenocarcinoma by regulating EZH2 ubiquitination and H3K27me3 histone methylation of LATS2., [RefSeq, PubMed]; Maternal Embryonic Leucine Zipper Kinase is Associated with Metastasis in Triple-negative Breast Cancer. Erratum:[Cancer Res Commun. 2024 Jan 29;4(1):236. doi: 10.1158/2767-9764.CRC-24-0046. PMID: 38282551] Publication Status: Online-Only, [RefSeq, PubMed]; PEg3 is a potential regulator of the G2/M progression and may act antagonistically to the CDC25B phosphatase,pEg3 kinase is able to specifically phosphorylate CDC25B in vitro. One phosphorylation site was identified and corresponded to serine 323, [RefSeq, PubMed]; Serine/threonine-protein kinase involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis and splicing regulation. Has a broad substrate specificity; phosphorylates BCL2L14, CDC25B, MAP3K5/ASK1 and ZNF622. Acts as an activator of apoptosis by phosphorylating and activating MAP3K5/ASK1. Acts as a regulator of cell cycle, notably by mediating phosphorylation of CDC25B, promoting localization of CDC25B to the centrosome and the spindle poles during mitosis. Plays a key role in cell proliferation and carcinogenesis. Required for proliferation of embryonic and postnatal multipotent neural progenitors. Phosphorylates and inhibits BCL2L14, possibly leading to affect mammary carcinogenesis by mediating inhibition of the pro-apoptotic function of BCL2L14. Also involved in the inhibition of spliceosome assembly during mitosis by phosphorylating ZNF622, thereby contributing to its redirection to the nucleus. May also play a role in primitive hematopoiesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "reported_mutagensis": 27, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6P3A7;A6P3A8;B1AMQ6;B7Z1E6;B7Z5M5;B7Z6Q7;B7Z6R8;B7Z6Y0;B7Z7Q1;D3DRP8;F5H0Y0;F5H2R4;F5H689;Q7L3C3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005524 ATP binding;GO:0005509 calcium ion binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0016020 membrane", "go_biological_process": "GO:0008283 cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0000086 G2/M transition of mitotic cell cycle;GO:0006915 apoptotic process;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q14680-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6R1-1", "uniprot_id": [ { "id": "S4A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6R1", "type": "external" } ], "mass": 121461.0, "length": 1079, "protein_name": "Electrogenic sodium bicarbonate cotransporter 1", "gene_name": "SLC4A4", "organism": "Human", "refseq_name": "electrogenic sodium bicarbonate cotransporter 1 isoform 1", "refseq_ac": [ { "id": "NP_001091954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091954", "type": "external" } ], "gene_names_uniprotkb": "SLC4A4; NBC1; NBCE1; NBC", "gene_names_refseq": "HNBC1; KNBC; NBC1; NBC2; NBCe1-A; NBCe1; PRTAO; SLC4A4; SLC4A5; hhNMC; kNBC1; pNBC", "protein_names_uniprotkb": "Electrogenic sodium bicarbonate cotransporter 1; Na(+)/HCO3(-) cotransporter; Sodium bicarbonate cotransporter; Solute carrier family 4 member 4; kNBC1", "protein_names_refseq": "Na(+)/HCO3(-) cotransporter; electrogenic sodium bicarbonate cotransporter 1 isoform 1; electrogenic sodium bicarbonate cotransporter 1; kidney type Na+/HCO3- cotransporter; pancreatic sodium bicarbonate cotransporter; sodium bicarbonate cotransporter 1 (sodium bicarbonate cotransporter, kidney; sodium bicarbonate cotransporter, pancreas); solute carrier family 4 (sodium bicarbonate cotransporter), member 4; solute carrier family 4, sodium bicarbonate cotransporter, member 4, brain type; solute carrier family 4, sodium bicarbonate cotransporter, member 5", "tax_id": 9606, "disease": "proximal renal tubular acidosis-ocular anomaly syndrome (Disease Ontology:DOID:0061195); hypertension (Disease Ontology:DOID:10763); nephrogenic diabetes insipidus (Disease Ontology:DOID:12387); renal tubular acidosis (Disease Ontology:DOID:14219); anemia (Disease Ontology:DOID:2355); cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:8671); (R-HSA-425381); (R-HSA-5619054); (R-HSA-9925563)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "10069984;10347222;10362779;10545938;10978526;11237011;11305939;11743927;11744745;11788353;12411514;12534288;12604466;12730338;12907161;14559244;14567693;15218065;15273250;15329059;15471865;15563508;15713912;15817634;15930088;16636648;16769890;17661077;18319254;18578522;18991276;19413330;20798035;21228764;21317537;23324180;23431199;23636456;24275569;24472682;25568315;2594752;26992070;28411811;29500354;29557506;3015590;30429286;31154438;31217245;31844290;31848261;32157095;32387766;33091337;33592498;34170291;34623331;34719949;35051231;35154160;35260236;35580925;36010968;36241641;38880227;7506871;7530501;7923606;8206915;9235899;9312167;9651366", "class_list": "", "function": "A novel I551F variant of the Na(+)/HCO3(-) cotransporter NBCe1-A shows reduced cell surface expression, resulting in diminished transport activity., [RefSeq, PubMed]; Distal renal tubular acidosis, autoimmune thyroiditis, enamel hypomaturation, and tooth agenesis caused by homozygosity of a novel double-nucleotide substitution in SLC4A4., [RefSeq, PubMed]; Electrogenic sodium bicarbonate cotransporter NBCe1 regulates pancreatic beta cell function in type 2 diabetes., [RefSeq, PubMed]; Electrogenic sodium/bicarbonate cotransporter with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3. May regulate bicarbonate influx/efflux at the basolateral membrane of cells and regulate intracellular pH., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Extracellular vesicles derived from cancer-associated fibroblast carries miR-224-5p targeting SLC4A4 to promote the proliferation, invasion and migration of colorectal cancer cells., [RefSeq, PubMed]; SLC4A4 is a novel driver of enzalutamide resistance in prostate cancer., [RefSeq, PubMed]; This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 83, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C4B714;O15153;Q8NEJ2;Q9H262;Q9NRZ1;Q9UIC0;Q9UIC1;Q9UP50", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0008509 monoatomic anion transmembrane transporter activity;GO:0015293 symporter activity;GO:0005452 solute:inorganic anion antiporter activity;GO:0008510 sodium:bicarbonate symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042391 regulation of membrane potential;GO:0055085 transmembrane transport;GO:0045821 positive regulation of glycolytic process;GO:0035725 sodium ion transmembrane transport;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9Y6R1-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAU0-1", "uniprot_id": [ { "id": "PKHA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAU0", "type": "external" } ], "mass": 127464.0, "length": 1116, "protein_name": "Pleckstrin homology domain-containing family A member 5", "gene_name": "PLEKHA5", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family A member 5 isoform 2", "refseq_ac": [ { "id": "NP_001137293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137293", "type": "external" } ], "gene_names_uniprotkb": "PLEKHA5; KIAA1686; PEPP2", "gene_names_refseq": "PEPP-2; PEPP2; PLEKHA5", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family A member 5; PEPP-2; PH domain-containing family A member 5; Phosphoinositol 3-phosphate-binding protein 2", "protein_names_refseq": "PH domain-containing family A member 5; phosphoinositol 3-phosphate-binding protein-2; pleckstrin homology domain containing, family A member 5; pleckstrin homology domain-containing family A member 5 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54477); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 145, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;15951569;16154996;16399794;16476736;16522682;16914545;16964243;16979564;17008356;17081983;17245604;17651088;17693683;18093523;18212344;18220336;18452278;18669648;18753295;18767875;19038970;19413330;19651622;19664994;19690332;19896968;20058876;20068230;20068231;20534812;21158410;21204784;21406692;22037487;22223895;22647598;23186163;23301498;23519112;23758345;25495341;25576301;27600516;28649982;28657654;28832583;29237092;29242379;29393594;29557506;30059200;30429286;30620550;30784271;30833945;31492838;31530632;31848261;32157095;32387766;32502341;32574038;32938616;32983136;33298915;33592498;33968037;34087483;34171305;34613798;34725712;34846842;35051231;35132862;35254053;35289036;35318648;35513511;35580925;35705054;36241641;36284347;37541260;38665916;38838015;39531497;39534244;40307207;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "PLEKHA5, PLEKHA6, and PLEKHA7 bind to PDZD11 to target the Menkes ATPase ATP7A to the cell periphery and regulate copper homeostasis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0JP03;B4DGS1;E9PHQ3;F5H0I0;Q6NSF8;Q86ST7;Q8N3K6;Q96DY9;Q9BVR4;Q9C0H7;Q9H924;Q9NVK8", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0080025 phosphatidylinositol-3,5-bisphosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0016020 membrane;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q9HAU0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09871-1", "uniprot_id": [ { "id": "C1S_HUMAN", "url": "https://www.uniprot.org/uniprot/P09871", "type": "external" } ], "mass": 76684.0, "length": 688, "protein_name": "Complement C1s subcomponent", "gene_name": "C1S", "organism": "Human", "refseq_name": "complement C1s subcomponent isoform 2", "refseq_ac": [ { "id": "NP_001333779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333779", "type": "external" } ], "gene_names_uniprotkb": "C1S", "gene_names_refseq": "C1S; EDSPD2", "protein_names_uniprotkb": "Complement C1s subcomponent; 3.4.21.42; C1 esterase; Complement C1s subcomponent chain A; Complement C1s subcomponent chain B; Complement component 1 subcomponent s", "protein_names_refseq": "C1 esterase; basic proline-rich peptide IB-1; complement C1s subcomponent isoform 2; complement C1s subcomponent; complement component 1 subcomponent s; complement component 1, s subcomponent", "tax_id": 9606, "disease": "Ehlers-Danlos syndrome periodontal type 2 (Disease Ontology:DOID:0080987); complement component C1s deficiency (MONDO:MONDO:0013419)", "pathway": " (hsa:716); (R-HSA-166663); (R-HSA-173623); (R-HSA-977606); (R-HSA-9920588)", "pathway_count": 5, "publication_count": 138, "publication_id_list": "10531307;1067618;10775260;10925294;11237011;11390518;11445589;11527969;11694537;11939578;12055245;12396008;1249422;12788922;1386357;14280442;15199963;16079145;16169853;16192651;16335952;16999828;17182573;17505110;18062908;18496526;1854725;18930415;19159218;19473974;19754307;2007122;20112406;21081667;2141278;21566123;21788512;22802338;22949645;23090970;23487775;23592783;23719902;23922389;24173023;2420889;2459702;2465906;2466593;2481448;2553984;27726376;27745832;27832191;27862975;28104818;2831944;28467828;28764923;29242379;29311313;293688;293746;29557506;2956252;29671580;2971659;29741879;29786170;2988513;2989825;3007145;301546;30418433;30429286;30484775;30550790;30833945;31844290;31848261;31867016;32152943;32157095;32432721;32488085;32778820;32938616;32983136;33091337;34155115;34171305;3500856;35051231;35580925;36284347;37209807;37217939;38218080;3848661;4098172;417728;467643;6019133;6214588;6219696;6222381;6230668;6238120;6271784;6282646;6319179;6334079;6362661;6454142;6607952;670886;6906228;6952210;702059;70787;7391570;7391573;7542572;760802;761607;7690834;7691959;7779774;814163;8345200;8495193;8538770;869924;8786315;9038722;9422791;978134;9794427", "class_list": "", "function": "A homozygous loss-of-function C1S mutation is associated with Kikuchi-Fujimoto disease., [RefSeq, PubMed]; Component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:11445589, PubMed:16169853, PubMed:417728, PubMed:467643, PubMed:6271784, PubMed:6282646, PubMed:6319179, PubMed:70787, PubMed:9422791). C1S is activated following association of the C1 complex with immunoglobulins (IgG or IgM) complexed with antigens to form antigen-antibody complexes on the surface of pathogens (PubMed:34155115). C1S is cleaved and activated by C1R to generate C1s subcomponent heavy and light chains (PubMed:11445589, PubMed:6271784). C1s subcomponent light chain then cleaves and activates C2 and C4, the next components of the classical complement pathway (PubMed:16169853, PubMed:467643, PubMed:6282646, PubMed:6319179, PubMed:6906228, PubMed:70787, PubMed:9422791)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cytoprotective effects of C1s enzyme in macrophages in atherosclerosis mediated through the LRP5 and Wnt/beta-catenin pathway., [RefSeq, PubMed]; Serine protease component of the complement C1 complex, which catalyzes cleavage and activation of C2 and C4, the next components of the classical complement pathway (PubMed:16169853, PubMed:22949645, PubMed:417728, PubMed:467643, PubMed:6282646, PubMed:6319179, PubMed:70787, PubMed:9422791). Also able to cleave C1 inhibitor (SERPING1) in vitro; additional evidence is however required to confirm this result in vivo (PubMed:16169853). Also cleaves IGFBP5 and thereby inhibits the trophic effects of IGF1 (PubMed:18930415)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; There are splice variants of C1s mRNA transcripts in normal human cells, [RefSeq, PubMed]; This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DUT4;Q9UCU7;Q9UCU8;Q9UCU9;Q9UCV0;Q9UCV1;Q9UCV2;Q9UCV3;Q9UCV4;Q9UCV5;Q9UM14", "ec_number_list": [ { "id": "3.4.21.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.41", "type": "external" }, { "id": "3.4.21.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.42", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0009986 cell surface;GO:0072562 blood microparticle;GO:0005602 complement component C1 complex", "go_biological_process": "GO:0006508 proteolysis;GO:0045087 innate immune response;GO:0006958 complement activation, classical pathway;GO:0006956 complement activation", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "P09871-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13829-1", "uniprot_id": [ { "id": "BACD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13829", "type": "external" } ], "mass": 36204.0, "length": 316, "protein_name": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2", "gene_name": "TNFAIP1", "organism": "Human", "refseq_name": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2", "refseq_ac": [ { "id": "NP_066960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066960", "type": "external" } ], "gene_names_uniprotkb": "TNFAIP1; BACURD2; EDP1", "gene_names_refseq": "B12; B61; BTBD34; EDP1; TNFAIP1; hBACURD2", "protein_names_uniprotkb": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2; BTB/POZ domain-containing protein TNFAIP1; Protein B12; Tumor necrosis factor, alpha-induced protein 1, endothelial; hBACURD2", "protein_names_refseq": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2; BTB/POZ domain-containing protein TNFAIP1; tumor necrosis factor, alpha induced protein 1; tumor necrosis factor, alpha-induced protein 1 (endothelial)", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:7126); (R-HSA-9696264); (R-HSA-9696270)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10664463;11237011;11940653;12244061;12842009;1370465;14732713;15738000;16481321;16565220;18669648;18996843;19136556;19637314;19782033;19851886;20068231;20811643;23186163;24690281;24715725;25576301;25888806;26154972;26969432;27846572;27862975;28904123;29557506;30429286;30484775;31844290;31871319;32157095;32387766;32488085;32502341;32938616;33141586;33298915;33717175;33936100;33968037;34211107;34561969;35051231;35318648;35580925;36215666;36241641;36284347;37938771;38102610;38688591;8649376", "class_list": "", "function": "HECTD2/TNFAIP1 Axis Regulating the p38/JNK Pathway to Promote an Inflammatory Response in Renal Cell Carcinoma Cells., [RefSeq, PubMed]; Neuronal-specific TNFAIP1 ablation attenuates postoperative cognitive dysfunction via targeting SNAP25 for K48-linked ubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in regulation of cytoskeleton structure. The BCR(TNFAIP1) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and cell migration. Its interaction with RHOB may regulate apoptosis. May enhance the PCNA-dependent DNA polymerase delta activity., [UniProtKB, PubMed, PubMed]; This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in umbilical vein endothelial cells. Studies of a similar gene in mouse suggest that the expression of this gene is developmentally regulated in a tissue-specific manner. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6M4;Q5TZQ1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031267 small GTPase binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0030332 cyclin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0006955 immune response;GO:0016477 cell migration;GO:0051260 protein homooligomerization;GO:0006915 apoptotic process;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q13829-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VV63-1", "uniprot_id": [ { "id": "ATRN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VV63", "type": "external" } ], "mass": 152639.0, "length": 1379, "protein_name": "Attractin-like protein 1", "gene_name": "ATRNL1", "organism": "Human", "refseq_name": "attractin-like protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001263211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263211", "type": "external" } ], "gene_names_uniprotkb": "ATRNL1; KIAA0534", "gene_names_refseq": "ALP; ATRNL1; bA338L11.1; bA454H24.1", "protein_names_uniprotkb": "Attractin-like protein 1", "protein_names_refseq": "attractin-like protein 1 isoform 2 precursor; attractin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26033)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16385451;18821597;29557506;31020640;31217245;32265295;32387766;33912179;34357683;38158696", "class_list": "glycogene", "function": "May play a role in melanocortin signaling pathways that regulate energy homeostasis., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Transcriptional factor CCAAT enhancer binding protein beta inhibits epithelial-mesenchymal transition in cervical cancer via regulating attractin-like 1. Publication Status: Online-Only, [RefSeq, PubMed]; Transgenic overexpression of Attractin-like-1 (Atrnl1), which compensates for loss of ATRN, does not rescue dark-like mutant phenotypes., [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1710, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "O60283;Q5JSE8;Q5T5Y9;Q6T256;Q6ZSN4;Q86WX2", "ec_number_list": [], "go_molecular_function": "GO:0005112 Notch binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5VV63-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39748-1", "uniprot_id": [ { "id": "FEN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P39748", "type": "external" } ], "mass": 42593.0, "length": 380, "protein_name": "Flap endonuclease 1", "gene_name": "FEN1", "organism": "Human", "refseq_name": "flap endonuclease 1", "refseq_ac": [ { "id": "NP_004102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004102", "type": "external" } ], "gene_names_uniprotkb": "FEN1; RAD2", "gene_names_refseq": "FEN-1; FEN1; MF1; RAD2", "protein_names_uniprotkb": "Flap endonuclease 1; 3.1.-.-; DNase IV; FEN-1; Flap structure-specific endonuclease 1; MF1; Maturation factor 1; hFEN-1", "protein_names_refseq": "DNase IV; flap endonuclease 1; maturation factor-1", "tax_id": 9606, "disease": "bacterial infectious disease (Disease Ontology:DOID:104); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:2237); (R-HSA-110362); (R-HSA-162594); (R-HSA-174437); (R-HSA-5651801); (R-HSA-5685939); (R-HSA-69166)", "pathway_count": 7, "publication_count": 186, "publication_id_list": "10364231;10460157;10559261;10744741;10881997;10959839;11237011;11250913;11264352;11340072;11430825;11440997;11473323;11554294;11601988;11687589;11698410;11724925;11986308;12200445;12727891;12853968;15135726;15183342;15193131;15561706;15576034;15607977;15616578;15731342;16012167;16278211;16409631;16464020;17548475;17991898;18443037;18499658;18593712;19223468;19329425;19336415;19357644;19608861;19778542;20068231;20483915;20551483;20573551;20647759;20729856;21183466;21398629;21816818;22424782;22433848;22952233;23186163;23604072;23675412;24714562;24715725;25201414;25418920;25576301;25642960;25642963;25643323;25645385;25789972;25880248;25892735;26154972;26751069;26758079;26760506;26811146;26929215;26992070;27600516;27846572;27849570;27862975;27920218;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29093164;29133916;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;30524438;30779550;30833945;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33770148;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34405274;34509645;34590401;34616022;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36672839;37185662;37217939;37254539;37938771;38396787;38642158;38665916;39894887;6278323;7687060;7711022;7745750;7774922;7876218;7961795;8003475;8007985;8131753;8264597;8621570;8663274;9214649;9305916;9649448;9685411;9780000;9786870;9804757", "class_list": "", "function": "Down-regulation of DNA key protein-FEN1 inhibits OSCC growth by affecting immunosuppressive phenotypes via IFN-gamma/JAK/STAT-1. Publication Status: Online-Only, [RefSeq, PubMed]; FEN1 Inhibition as a Potential Novel Targeted Therapy against Breast Cancer and the Prognostic Relevance of FEN1. Publication Status: Online-Only, [RefSeq, PubMed]; Flap Endonuclease 1 Endonucleolytically Processes RNA to Resolve R-Loops through DNA Base Excision Repair. GeneRIF: Flap Endonuclease 1 Endonucleolytically Processes RNA to Resolve R-Loops through DNA Base Excision Repair. Publication Status: Online-Only, [RefSeq, PubMed]; Post-translational Modifications by Acyl Groups Regulate FEN1's Activities and Play Essential Roles in Cell Proliferation and DNA Repair., [RefSeq, PubMed]; Structure-specific nuclease with 5'-flap endonuclease and 5'-3' exonuclease activities involved in DNA replication and repair. During DNA replication, cleaves the 5'-overhanging flap structure that is generated by displacement synthesis when DNA polymerase encounters the 5'-end of a downstream Okazaki fragment. It enters the flap from the 5'-end and then tracks to cleave the flap base, leaving a nick for ligation. Also involved in the long patch base excision repair (LP-BER) pathway, by cleaving within the apurinic/apyrimidinic (AP) site-terminated flap. Acts as a genome stabilization factor that prevents flaps from equilibrating into structures that lead to duplications and deletions. Also possesses 5'-3' exonuclease activity on nicked or gapped double-stranded DNA, and exhibits RNase H activity. Also involved in replication and repair of rDNA and in repairing mitochondrial DNA., [UniProtKB, PubMed, PubMed, HAMAP, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The endonuclease FEN1 mediates activation of STAT3 and facilitates proliferation and metastasis in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.2.1.143", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.143", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0030145 manganese ion binding;GO:0003684 damaged DNA binding;GO:0003690 double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "GO:0032201 telomere maintenance via semi-conservative replication;GO:0006287 base-excision repair, gap-filling;GO:0006281 DNA repair;GO:0007613 memory;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P39748-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0D2H9-1", "uniprot_id": [ { "id": "GOG8D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0D2H9", "type": "external" } ], "mass": 48423.0, "length": 430, "protein_name": "Putative golgin subfamily A member 8D", "gene_name": "GOLGA8DP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GOLGA8DP; GOLGA8D", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative golgin subfamily A member 8D", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032580 Golgi cisterna membrane;GO:0005801 cis-Golgi network;GO:0000137 Golgi cis cisterna", "go_biological_process": "GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q0D2H9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWK5-1", "uniprot_id": [ { "id": "IL23R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWK5", "type": "external" } ], "mass": 71722.0, "length": 629, "protein_name": "Interleukin-23 receptor", "gene_name": "IL23R", "organism": "Human", "refseq_name": "interleukin-23 receptor precursor", "refseq_ac": [ { "id": "NP_653302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653302", "type": "external" } ], "gene_names_uniprotkb": "IL23R", "gene_names_refseq": "IL23R; PSORS7", "protein_names_uniprotkb": "Interleukin-23 receptor; IL-23 receptor; IL-23R", "protein_names_refseq": "IL-23 receptor; IL23RL1-THE1A; interleukin-23 receptor precursor", "tax_id": 9606, "disease": "Graves ophthalmopathy (Disease Ontology:DOID:0081120); inflammatory bowel disease 17 (Disease Ontology:DOID:0110883); psoriasis 7 (Disease Ontology:DOID:0111279); osteonecrosis (Disease Ontology:DOID:10159); celiac disease (Disease Ontology:DOID:10608); sarcoidosis (Disease Ontology:DOID:11335); Graves' disease (Disease Ontology:DOID:12361); Sjogren's syndrome (Disease Ontology:DOID:12894); uveitis (Disease Ontology:DOID:13141); Behcet's disease (Disease Ontology:DOID:13241); multiple sclerosis (Disease Ontology:DOID:2377); pulmonary tuberculosis (Disease Ontology:DOID:2957); systemic scleroderma (Disease Ontology:DOID:418); rhinitis (Disease Ontology:DOID:4483); pulmonary hypertension (Disease Ontology:DOID:6432); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); arthritis (Disease Ontology:DOID:848); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074)", "pathway": " (hsa:149233); (R-HSA-6785807); (R-HSA-9020933)", "pathway_count": 3, "publication_count": 118, "publication_id_list": "10023775;10219247;10369418;10510379;10586089;10867011;11058569;11084045;11104795;11114383;11120780;11237011;11278437;11278729;11356008;11404481;11463377;11960372;12023369;12223527;12242343;12600988;12832402;12947981;14634100;14712222;15116091;15261459;15584925;15805299;15869882;15950906;16007214;16048438;16107692;16138901;16205632;16236134;16372191;16397018;16451196;16510571;16540365;16606674;17068223;17427945;17458857;17572495;17587057;17804789;18243101;18353781;18447642;18615094;18644974;18754016;18800148;18840671;19124156;19161421;19185846;19397496;20493732;20699468;21053369;21076058;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23555662;23967200;24097101;24743777;25234944;25516297;26109132;26887945;26992070;32157095;32350084;33091337;35051231;35251023;38394507;39213891;39306854;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8602263;8621622;8663118;8668165;8797861;8816495;9013879;9651359;9723655;9736340;9822675;9874564", "class_list": "", "function": "A splice variant lacking exon 9 (Delta-9) encodes a soluble extracellular domain of IL23R. This binds the p19 component of IL23 and inhibits STAT3 activation in human CD4+ T-cells. Acting as an IL23 antagonist, it inhibits the secretion of IL17., [RefSeq, PubMed]; Associates with IL12RB1 to form the interleukin-23 receptor. Binds IL23 and mediates T-cells, NK cells and possibly certain macrophage/myeloid cells stimulation probably through activation of the Jak-Stat signaling cascade. IL23 functions in innate and adaptive immunity and may participate in acute response to infection in peripheral tissues. IL23 may be responsible for autoimmune inflammatory diseases and be important for tumorigenesis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Case-control study of IL23R rs76418789 polymorphism, smoking, and ulcerative colitis in Japan., [RefSeq, PubMed]; IL23R mutations associated with decreased risk of psoriasis lead to the differential expression of genes implicated in the disease., [RefSeq, PubMed]; Interleukin gene polymorphisms and alopecia areata: A systematic review and meta-analysis., [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the receptor for IL23A/IL23. This protein pairs with the receptor molecule IL12RB1/IL12Rbeta1, and both are required for IL23A signaling. This protein associates constitutively with Janus kinase 2 (JAK2), and also binds to transcription activator STAT3 in a ligand-dependent manner. [provided by RefSeq, Jul 2008]., [RefSeq]; This report describes an insertion in the IL-23 receptor and due to consequent early termination within the intracellular region, causing a possible non-responsive receptor isoform. GeneRIF: An intronic insertion was discovered between exons 9 and 10 of IL23R and termed exon 9a. This insertion has homology to the L1 retrotransposon protein and causes early translation termination., [RefSeq, PubMed]; Twenty-four splice forms of IL23R were observed including several that may encode proteins. Two encode the entire (Delta-9) or the majority of (Delta-8,9) the extracellular ligand-binding domain and may be soluble receptors., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 22, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "C9JGX4;Q4VGP1;Q4VGP2;Q4VGP3;Q4VGP4;Q4VGP5;Q4VGP6;Q5VWK7;Q8IW84;Q8NFQ9;Q96AS1", "ec_number_list": [], "go_molecular_function": "GO:0017046 peptide hormone binding;GO:0019955 cytokine binding;GO:0004925 prolactin receptor activity;GO:0004896 cytokine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0043235 receptor complex;GO:0009897 external side of plasma membrane;GO:0072536 interleukin-23 receptor complex", "go_biological_process": "GO:0032693 negative regulation of interleukin-10 production;GO:0032740 positive regulation of interleukin-17 production;GO:0051135 positive regulation of NK T cell activation;GO:0006954 inflammatory response;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q5VWK5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWB1-1", "uniprot_id": [ { "id": "RFOX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWB1", "type": "external" } ], "mass": 42784.0, "length": 397, "protein_name": "RNA binding protein fox-1 homolog 1", "gene_name": "RBFOX1", "organism": "Human", "refseq_name": "RNA binding protein fox-1 homolog 1 isoform 5", "refseq_ac": [ { "id": "NP_001135805", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135805", "type": "external" } ], "gene_names_uniprotkb": "RBFOX1; A2BP1; A2BP; FOX1; HRNBP1", "gene_names_refseq": "2BP1; A2BP1; FOX-1; FOX1; HRNBP1; RBFOX1", "protein_names_uniprotkb": "RNA binding protein fox-1 homolog 1; Ataxin-2-binding protein 1; Fox-1 homolog A; Hexaribonucleotide-binding protein 1", "protein_names_refseq": "RNA binding protein fox-1 homolog 1 isoform 5; RNA binding protein, fox-1 homolog 1; ataxin 2-binding protein 1; fox-1 homolog A; fox-1-like RNA-binding protein 1; hexaribonucleotide-binding protein 1", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); dilated cardiomyopathy (Disease Ontology:DOID:12930); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:54715); (R-HSA-9022707)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10814712;11237011;16260614;16362037;16537540;26992070;29331515;29557506;32157095;32387766;32502341;33592498;33912179;34039076;34531523;35051231;35948661;37903506;37938771", "class_list": "", "function": "Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits., [RefSeq, PubMed]; Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants., [RefSeq, PubMed]; Fox-1 and Fox-2 isoforms specifically activate splicing of neuronally regulated exons, which requires UGCAUG enhancer elements, [RefSeq, PubMed]; Fox-1 and Fox-2 splicing factors have roles in alternative splicing of protein 4.1R, [RefSeq, PubMed]; Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1., [RefSeq, PubMed]; Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene., [RefSeq, PubMed]; RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis., [UniProtKB, PubMed]; RNA-binding protein that regulates alternative splicing events., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; These results demonstrate the unusual molecular mechanism of sequence-specific RNA recognition by Fox-1, which is exceptional in its high affinity for a defined but short sequence element., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z7I7;Q8TAE3;Q8TAF2;Q8WYB2;Q9NS20", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0097165 nuclear stress granule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006397 mRNA processing;GO:0007399 nervous system development;GO:0008380 RNA splicing;GO:0050658 RNA transport;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9NWB1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78537-1", "uniprot_id": [ { "id": "BL1S1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78537", "type": "external" } ], "mass": 17263.0, "length": 153, "protein_name": "Biogenesis of lysosome-related organelles complex 1 subunit 1", "gene_name": "BLOC1S1", "organism": "Human", "refseq_name": "biogenesis of lysosome-related organelles complex 1 subunit 1", "refseq_ac": [ { "id": "NP_001478", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001478", "type": "external" } ], "gene_names_uniprotkb": "BLOC1S1; BLOS1; GCN5L1; RT14", "gene_names_refseq": "BLOC1S1; BLOS1; BORCS1; GCN5L1; MICoA; RT14", "protein_names_uniprotkb": "Biogenesis of lysosome-related organelles complex 1 subunit 1; 2.3.1.-; BLOC-1 subunit 1; GCN5-like protein 1; Protein RT14; Protein acetyltransferase BLOC1S1", "protein_names_refseq": "BLOC-1 subunit 1; GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1; GCN5 general control of amino-acid synthesis 5-like 1; GCN5-like protein 1; MTA1-interacting coactivator; biogenesis of lysosome-related organelles complex 1 subunit 1; protein acetyltransferase BLOC1S1", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); schizophrenia (Disease Ontology:DOID:5419); metal metabolism disorder (Disease Ontology:DOID:896)", "pathway": " (hsa:2647); (R-HSA-432720); (R-HSA-432722)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10394364;10436028;11139587;11237011;11333915;11590181;11604418;11694590;11994746;15102850;16155256;16867982;17116749;17182842;19559397;19651769;20230749;20708039;21209280;21620353;22009320;22203680;22309213;22544926;22869377;23481700;24714562;24715725;25418920;25576301;25880248;25892735;25898167;26154972;26375851;26929215;26992070;27600516;27862975;28218747;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30833945;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33886957;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35538890;35561310;35580925;36010968;36241641;36284347;36535215;37938771;38281616;8374173;8524399;8646881;8670264;8770567;9733768", "class_list": "", "function": "A BLOC-1-AP-3 super-complex sorts a cis-SNARE complex into endosome-derived tubular transport carriers., [RefSeq, PubMed]; Acts as a protein acetyltransferase (PubMed:22309213, PubMed:38281616). Negatively regulates aerobic respiration through mitochondrial protein lysine-acetylation (PubMed:22309213). May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9 (PubMed:22309213). Acts as a regulator of mTORC2 signaling in response to hypotoxic stress by mediating acetylation of RICTOR, thereby protecting RICTOR against ubiquitination and subsequent degradation by the proteasome (PubMed:38281616)., [UniProtKB, PubMed, PubMed]; Acts as a protein acetyltransferase. Negatively regulates aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9. Acts as a regulator of mTORC2 signaling in response to hypotoxic stress by mediating acetylation of RICTOR, thereby protecting RICTOR against ubiquitination and subsequent degradation by the proteasome., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]., [RefSeq]; Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:17182842). In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (PubMed:17182842). The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery (PubMed:25898167). Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167)., [UniProtKB, PubMed, PubMed]; GCN5L1-mediated acetylation prevents Rictor degradation in cardiac cells after hypoxic stress., [RefSeq, PubMed]; Mitochondrial GCN5L1 regulates glutaminase acetylation and hepatocellular carcinoma., [RefSeq, PubMed]; The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4Q9;Q6NZ45", "ec_number_list": [ { "id": "3.1.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.1", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "2.3.1.259", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.259", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "2.3.1.80", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.80", "type": "external" } ], "go_molecular_function": "GO:0061733 protein-lysine-acetyltransferase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005758 mitochondrial intermembrane space;GO:0005759 mitochondrial matrix;GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0031175 neuron projection development;GO:0016197 endosomal transport;GO:0060155 platelet dense granule organization;GO:0008089 anterograde axonal transport;GO:0032438 melanosome organization", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "P78537-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22676-1", "uniprot_id": [ { "id": "CALB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P22676", "type": "external" } ], "mass": 31540.0, "length": 271, "protein_name": "Calretinin", "gene_name": "CALB2", "organism": "Human", "refseq_name": "calretinin isoform 1", "refseq_ac": [ { "id": "NP_001731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001731", "type": "external" } ], "gene_names_uniprotkb": "CALB2; CAB29", "gene_names_refseq": "CAB29; CAL2; CALB2; CR", "protein_names_uniprotkb": "Calretinin; 29 kDa calbindin; CR", "protein_names_refseq": "29 kDa calbindin; calbindin 2, (29kD, calretinin); calbindin D29K; calretinin isoform 1; testicular secretory protein Li 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:794)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;14755000;2001709;2618861;29557506;29786170;30192525;32157095;33968037;35333527;37562064;38203360;38549265", "class_list": "", "function": "'Deciduoid' Change in Uterine Leiomyomas in Pregnancy: Aberrant Expression of Sex Cord Markers Inhibin and Calretinin., [RefSeq, PubMed]; All-Ion Monitoring-Directed Low-Abundance Protein Quantification Reveals CALB2 as a Key Promoter in Hepatocellular Carcinoma Metastasis., [RefSeq, PubMed]; Calcium-binding protein involved in calcium homeostasis and signal transduction. It plays a critical role in buffering intracellular calcium levels and modulating calcium-dependent signaling pathways (PubMed:2001709). Predominantly expressed in specific neuronal populations, influences synaptic plasticity and neuronal excitability, contributing to learning and memory (By similarity). During embryonic development, it facilitates neuronal differentiation and maturation (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Expression of Calretinin in the Cecal Muscularis Interna: Observation and Hypothetical Relevance to Appendicitis., [RefSeq, PubMed]; Serum Calretinin and Genetic Variability as a Prognostic and Predictive Factor in Malignant Mesothelioma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an intracellular calcium-binding protein belonging to the troponin C superfamily. Members of this protein family have six EF-hand domains which bind calcium. This protein plays a role in diverse cellular functions, including message targeting and intracellular calcium buffering. It also functions as a modulator of neuronal excitability, and is a diagnostic marker for some human diseases, including Hirschsprung disease and some cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4Y1;Q53HD2;Q96BK4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0099534 calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0030425 dendrite;GO:0043195 terminal bouton;GO:0045202 synapse", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0048167 regulation of synaptic plasticity;GO:0099536 synaptic signaling", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P22676-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98196-1", "uniprot_id": [ { "id": "AT11A_HUMAN", "url": "https://www.uniprot.org/uniprot/P98196", "type": "external" } ], "mass": 129756.0, "length": 1134, "protein_name": "Phospholipid-transporting ATPase IH", "gene_name": "ATP11A", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase IH isoform a", "refseq_ac": [ { "id": "NP_056020", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056020", "type": "external" } ], "gene_names_uniprotkb": "ATP11A; ATPIH; ATPIS; KIAA1021", "gene_names_refseq": "ATP11A; ATPIH; ATPIS; AUNA2; DFNA84; HLD24", "protein_names_uniprotkb": "Phospholipid-transporting ATPase IH; 7.6.2.1; ATPase IS; ATPase class VI type 11A; P4-ATPase flippase complex alpha subunit ATP11A", "protein_names_refseq": "ATPase, class VI, type 11A; P4-ATPase flippase complex alpha subunit ATP11A; phospholipid-translocating ATPase; phospholipid-transporting ATPase IH isoform a; potential phospholipid-transporting ATPase IH; probable phospholipid-transporting ATPase IH", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 24 (Disease Ontology:DOID:0070406); autosomal dominant nonsyndromic deafness 84 (Disease Ontology:DOID:0070604); auditory neuropathy, autosomal dominant 2 (MONDO:MONDO:0957279)", "pathway": " (hsa:23250); (R-HSA-6798695); (R-HSA-936837)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10401004;10484781;10615129;10767338;11237011;15831496;15860663;15919184;15925480;16182249;1656976;16700898;18723824;19345671;19878721;20068231;2160952;21914794;22186024;23186163;23196729;23481700;23650620;24392018;25315773;25645385;25892735;25947375;26567335;26992070;27067231;27846572;28063628;28218747;28228285;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29769354;29799007;30018401;30315122;30784271;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33298915;33392160;33592498;33912179;33968037;34211107;34357683;34403372;34509645;35051231;35154160;35278131;35580925;36010968;36241641;36284347;36300302;36581221;38003027;6832622;7626145;8045293;8298639;8490646;8490659;8692836;9147644;9307043", "class_list": "", "function": "A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2., [RefSeq, PubMed]; Association of a Single Nucleotide Variant in TERT with Airway Disease in Japanese Rheumatoid Arthritis Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene., [RefSeq, PubMed]; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane (PubMed:25315773, PubMed:25947375, PubMed:26567335, PubMed:29799007, PubMed:30018401, PubMed:36300302). Does not show flippase activity toward phosphatidylcholine (PC) (PubMed:34403372). Contributes to the maintenance of membrane lipid asymmetry with a specific role in morphogenesis of muscle cells. In myoblasts, mediates PS enrichment at the inner leaflet of plasma membrane, triggering PIEZO1-dependent Ca2+ influx and Rho GTPases signal transduction, subsequently leading to the assembly of cortical actomyosin fibers and myotube formation (PubMed:29799007). May be involved in the uptake of farnesyltransferase inhibitor drugs, such as lonafarnib., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. [provided by RefSeq, Apr 2022]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VXT2", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0090555 phosphatidylethanolamine flippase activity;GO:0090556 phosphatidylserine floppase activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0035579 specific granule membrane", "go_biological_process": "GO:0010831 positive regulation of myotube differentiation;GO:0045332 phospholipid translocation;GO:0097035 regulation of membrane lipid distribution", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P98196-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZQ1-1", "uniprot_id": [ { "id": "WDFY3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZQ1", "type": "external" } ], "mass": 395258.0, "length": 3526, "protein_name": "WD repeat and FYVE domain-containing protein 3", "gene_name": "WDFY3", "organism": "Human", "refseq_name": "WD repeat and FYVE domain-containing protein 3", "refseq_ac": [ { "id": "NP_055806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055806", "type": "external" } ], "gene_names_uniprotkb": "WDFY3; KIAA0993", "gene_names_refseq": "ALFY; BCHS; MCPH18; WDFY3; ZFYVE25", "protein_names_uniprotkb": "WD repeat and FYVE domain-containing protein 3; Alfy; Autophagy-linked FYVE protein", "protein_names_refseq": "WD repeat and FYVE domain-containing protein 3; autophagy-linked FYVE protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); primary autosomal dominant microcephaly 18 (Disease Ontology:DOID:0070295); Chediak-Higashi syndrome (Disease Ontology:DOID:2935)", "pathway": " (hsa:23001)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15292400;17081983;18669648;18691976;19664994;20168092;20417604;20971078;23186163;23481700;24128730;24668264;25576301;25645385;25892735;26992070;27008544;27846572;27862975;28832583;28834231;28904123;29242379;29351928;29393594;29557506;29632711;29786170;30429286;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31899071;32157095;32161166;32265295;32387766;32488085;32897882;32938616;32983136;33141586;33225481;33392160;33537174;33592498;33968037;33981976;34087483;34171305;34509645;35051231;35099014;35580925;36010968;36241641;36284347;36566259;37938771", "class_list": "", "function": "A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis. Publication Status: Online-Only, [RefSeq, PubMed]; A highly conserved glutamic acid in ALFY inhibits membrane binding to aid in aggregate clearance., [RefSeq, PubMed]; ALFY localizes to early endosomes and cellular protrusions to facilitate directional cell migration., [RefSeq, PubMed]; Alfy is required in the adult brain for the autophagy-dependent clearance of proteinaceous deposits, and its depletion in neurons derived from Huntington's disease patient fibroblasts accelerates the aberrant accumulation of this pathological hallmark shared across adult-onset neurodegenerative diseases., [RefSeq, PubMed]; Alfy might target cytosolic protein aggregates for autophagic degradation., [RefSeq, PubMed]; Data suggest that p62 and ALFY interact to organize misfolded, ubiquitinated proteins into protein bodies that become degraded by autophagy., [RefSeq, PubMed]; Required for selective macroautophagy (aggrephagy). Acts as an adapter protein by linking specific proteins destined for degradation to the core autophagic machinery members, such as the ATG5-ATG12-ATG16L E3-like ligase, SQSTM1 and LC3 (PubMed:20417604). Along with p62/SQSTM1, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with SQSTM1, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:20168092). Important for normal brain development. Essential for the formation of axonal tracts throughout the brain and spinal cord, including the formation of the major forebrain commissures. Involved in the ability of neural cells to respond to guidance cues. Required for cortical neurons to respond to the trophic effects of netrin-1/NTN1 (By similarity). Regulates Wnt signaling through the removal of DVL3 aggregates, likely in an autophagy-dependent manner. This process may be important for the determination of brain size during embryonic development (PubMed:27008544). May regulate osteoclastogenesis by acting on the TNFSF11/RANKL - TRAF6 pathway (By similarity). After cytokinetic abscission, involved in midbody remnant degradation (PubMed:24128730). In vitro strongly binds to phosphatidylinositol 3-phosphate (PtdIns3P) (PubMed:15292400)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The selective macroautophagic degradation of aggregated proteins requires the PI3P-binding protein Alfy., [RefSeq, PubMed]; This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q4W5K5;Q6P0Q5;Q8N1T2;Q8NAV6;Q96BS7;Q96D33;Q96N85;Q9Y2J7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005545 1-phosphatidylinositol binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0035973 aggrephagy;GO:0016236 macroautophagy", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q8IZQ1-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2Q0-1", "uniprot_id": [ { "id": "AT8A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0", "type": "external" } ], "mass": 131369.0, "length": 1164, "protein_name": "Phospholipid-transporting ATPase IA", "gene_name": "ATP8A1", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase IA isoform b", "refseq_ac": [ { "id": "NP_001098999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098999", "type": "external" } ], "gene_names_uniprotkb": "ATP8A1; ATPIA", "gene_names_refseq": "ATP8A1; ATPASEII; ATPIA; ATPP2", "protein_names_uniprotkb": "Phospholipid-transporting ATPase IA; 7.6.2.1; ATPase class I type 8A member 1; Chromaffin granule ATPase II; P4-ATPase flippase complex alpha subunit ATP8A1", "protein_names_refseq": "ATPase II; ATPase class I type 8A member 1; ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1; P4-ATPase flippase complex alpha subunit ATP8A1; aminophospholipid translocase; chromaffin granule ATPase II; phospholipid-transporting ATPase IA isoform b; probable phospholipid-transporting ATPase IA", "tax_id": 9606, "disease": "", "pathway": " (hsa:10396); (R-HSA-6798695); (R-HSA-936837)", "pathway_count": 3, "publication_count": 87, "publication_id_list": "10198212;10401004;10484781;10615129;10767338;11237011;15831496;15919184;15925480;16182249;1656976;16700898;18088087;18723824;19345671;19878721;20947505;20961850;2160952;21914794;22186024;23196729;23650620;24392018;24715725;25502872;25505266;25880248;25892735;26154972;26992070;27067231;27090790;27846572;27862975;27920218;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632046;29632711;29769354;30315122;30429286;30674456;31217245;31416931;31844290;32157095;32350084;32357974;32502341;32983136;33691108;33717175;33912179;33936100;33990468;34078123;34357683;34433824;34932366;35051231;35154160;35494241;35580925;36010968;36581221;38459596;6832622;7626145;8045293;8298639;8490646;8490659;8692836;9147644;9307043", "class_list": "", "function": "AP-3-dependent targeting of flippase ATP8A1 to lamellar bodies suppresses activation of YAP in alveolar epithelial type 2 cells., [RefSeq, PubMed]; ATP8A1 is cleaved by the cysteine protease calpain during apoptosis, and the cleavage is prevented indirectly by caspase inhibition, involving blockage of calcium influx into platelets and subsequent calpain activation., [RefSeq, PubMed]; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids (PubMed:31416931). Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules. In vitro, its ATPase activity is selectively and stereospecifically stimulated by phosphatidylserine (PS) (PubMed:31416931). The flippase complex ATP8A1:TMEM30A seems to play a role in regulation of cell migration probably involving flippase-mediated translocation of phosphatidylethanolamine (PE) at the cell membrane (By similarity). Acts as aminophospholipid translocase at the cell membrane in neuronal cells (By similarity)., [UniProtKB, UniProtKB, PubMed]; Cryo-electron microscopy structure of six intermediates of the human flippase ATP8A1 bound to the partner protein CDC50a; ATP binding and autophosphorylation of ATP8A1 drive a cycle of conformations in which lipids bind differently, powering translocation., [RefSeq, PubMed]; Exosome circATP8A1 induces macrophage M2 polarization by regulating the miR-1-3p/STAT6 axis to promote gastric cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; The P-type adenosinetriphosphatases (P-type ATPases) are a family of proteins which use the free energy of ATP hydrolysis to drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily catalyzes transport of heavy metal ions. Another subfamily transports non-heavy metal ions (NMHI). The protein encoded by this gene is a member of the third subfamily of P-type ATPases and acts to transport amphipaths, such as phosphatidylserine. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32M35;Q32M36;Q4W5J7;Q4W5P2", "ec_number_list": [ { "id": "3.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.25", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0090556 phosphatidylserine floppase activity;GO:0019829 ATPase-coupled monoatomic cation transmembrane transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007612 learning;GO:0030335 positive regulation of cell migration;GO:0034220 monoatomic ion transmembrane transport;GO:0045332 phospholipid translocation;GO:0061092 positive regulation of phospholipid translocation", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9Y2Q0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N143-1", "uniprot_id": [ { "id": "BCL6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N143", "type": "external" } ], "mass": 51531.0, "length": 479, "protein_name": "B-cell CLL/lymphoma 6 member B protein", "gene_name": "BCL6B", "organism": "Human", "refseq_name": "B-cell CLL/lymphoma 6 member B protein", "refseq_ac": [ { "id": "NP_862827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_862827", "type": "external" } ], "gene_names_uniprotkb": "BCL6B; BAZF; ZNF62", "gene_names_refseq": "BAZF; BCL6B; ZBTB28; ZNF62", "protein_names_uniprotkb": "B-cell CLL/lymphoma 6 member B protein; Bcl6-associated zinc finger protein; Zinc finger protein 62", "protein_names_refseq": "B cell CLL/lymphoma 6B; B-cell CLL/lymphoma 6 member B protein; B-cell CLL/lymphoma 6, member B (zinc finger protein); bcl6-associated zinc finger protein; zinc finger protein 62", "tax_id": 9606, "disease": "", "pathway": " (hsa:255877)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;11855826;29393594;33392160;34269294;35048182;36376550;37078291;39075623", "class_list": "", "function": "Acts as a sequence-specific transcriptional repressor in association with BCL6. May function in a narrow stage or be related to some events in the early B-cell development., [UniProtKB, PubMed]; BCL6B Contributes to Ocular Vascular Diseases via Notch Signal Silencing., [RefSeq, PubMed]; BCL6B hypermethylation predicts metastasis and poor prognosis in early-stage hepatocellular carcinoma after thermal ablation., [RefSeq, PubMed]; BCL6B-dependent suppression of ETV2 hampers endothelial cell differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; CircTFF1 Promotes Proliferation, Migration and Invasion of Lung Cancer Cells by Facilitating Methylation of BCL6B Promoter via miR-29c-3p/DNMT3A Axis., [RefSeq, PubMed]; ZBTB28 inhibits breast cancer by activating IFNAR and dual blocking CD24 and CD47 to enhance macrophages phagocytosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6PCB4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0042127 regulation of cell population proliferation;GO:0002682 regulation of immune system process;GO:0050727 regulation of inflammatory response;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N143-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWC9-1", "uniprot_id": [ { "id": "CC106_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWC9", "type": "external" } ], "mass": 32032.0, "length": 280, "protein_name": "Coiled-coil domain-containing protein 106", "gene_name": "CCDC106", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 106 isoform 1", "refseq_ac": [ { "id": "NP_037433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037433", "type": "external" } ], "gene_names_uniprotkb": "CCDC106", "gene_names_refseq": "CCDC106; HSU79303; ZNF581", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 106", "protein_names_refseq": "coiled-coil domain-containing protein 106 isoform 1; coiled-coil domain-containing protein 106; protein predicted by clone 23882", "tax_id": 9606, "disease": "", "pathway": " (hsa:29903)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;20159018;23186163;24714562;25576301;26375851;26728094;27600516;28460455;28832583;29242379;29632046;29786170;30885251;31844290;32157095;32897882;32938616;32983136;33023834;33717175;33912179;33968037;34561969;35484984;35854676;36241641", "class_list": "", "function": "CCDC106 promotes the degradation of p53 protein and inhibits its transactivity., [RefSeq, PubMed]; CCDC106 promotes the proliferation and invasion of ovarian cancer cells by suppressing p21 transcription through a p53-independent pathway., [RefSeq, PubMed]; HPV-CCDC106 integration alters local chromosome architecture and hijacks an enhancer by three-dimensional genome structure remodeling in cervical cancer., [RefSeq, PubMed]; HPV-CCDC106 integration promotes cervical cancer progression by facilitating the high expression of CCDC106 after HPV E6 splicing., [RefSeq, PubMed]; Our studies revealed that CCDC106 is associated with non-small cell lung cancer progression and unfavorable prognosis. CCDC106 enhanced Cyclin A2 and Cyclin B1 expression and promoted A549 and H1299 cell proliferation, which depended on AKT signaling. These results suggest that CCDC106 may be a novel target for lung cancer treatment., [RefSeq, PubMed]; Promotes the degradation of p53/TP53 protein and inhibits its transactivity., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KUF9;D3K183;Q99786", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9BWC9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VU97-1", "uniprot_id": [ { "id": "CAHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VU97", "type": "external" } ], "mass": 142290.0, "length": 1274, "protein_name": "VWFA and cache domain-containing protein 1", "gene_name": "CACHD1", "organism": "Human", "refseq_name": "VWFA and cache domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001280203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280203", "type": "external" } ], "gene_names_uniprotkb": "CACHD1; KIAA1573; VWCD1", "gene_names_refseq": "CACHD1; DVWS", "protein_names_uniprotkb": "VWFA and cache domain-containing protein 1; Cache domain-containing protein 1", "protein_names_refseq": "VWFA and cache domain-containing protein 1 isoform 2; VWFA and cache domain-containing protein 1; von Willebrand factor type A and cache domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57685)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23090970;23481700;24190977;25645385;29393594;29557506;29741879;30181139;30983497;31844290;32161166;32488085;35494241;38158856", "class_list": "", "function": "Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities., [RefSeq, PubMed]; CACHD1 increases the presence of CaV3.1 at the cell surface and causes an increase in channel open probability., [RefSeq, PubMed]; CACHD1: A new activity-modifying protein for voltage-gated calcium channels, [RefSeq, PubMed]; May regulate voltage-dependent calcium channels., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q49AE9;Q658T4;Q7Z3P2;Q9H7W4;Q9H9W3;Q9HCJ9", "ec_number_list": [], "go_molecular_function": "GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0005891 voltage-gated calcium channel complex;GO:0016020 membrane", "go_biological_process": "GO:0006816 calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q5VU97-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51690-1", "uniprot_id": [ { "id": "ARSL_HUMAN", "url": "https://www.uniprot.org/uniprot/P51690", "type": "external" } ], "mass": 65669.0, "length": 589, "protein_name": "Arylsulfatase L", "gene_name": "ARSL", "organism": "Human", "refseq_name": "arylsulfatase L isoform 2 precursor", "refseq_ac": [ { "id": "NP_000038", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000038", "type": "external" } ], "gene_names_uniprotkb": "ARSL; ARSE", "gene_names_refseq": "ARSE; ARSL; ASE; CDPX1; CDPXR; CDPX", "protein_names_uniprotkb": "Arylsulfatase L; 3.1.6.1; ASE; Arylsulfatase E", "protein_names_refseq": "arylsulfatase E (chondrodysplasia punctata 1); arylsulfatase L isoform 2 precursor", "tax_id": 9606, "disease": "X-linked chondrodysplasia punctata 1 (Disease Ontology:DOID:0060292); chondrodysplasia punctata (Disease Ontology:DOID:2581)", "pathway": " (hsa:415); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12567415;12594539;12662933;12757705;12757706;12885774;12888274;12909021;1352293;1352993;14563551;15003450;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15962010;16229686;16230343;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19159218;19405096;19836391;2001789;20728381;23470839;235289;239890;25366798;2562955;26992070;2717620;2722194;27543614;28126847;29443946;29557506;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29789417;29802621;3014515;3048308;31154438;3136930;31495489;3158659;31844290;32157095;33592498;34087483;34185709;3456607;35051231;35580925;36026611;36284347;39940;5135907;5164093;527942;5822067;7504405;7628016;7720070;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9338580;9409863;9497243;9520418;9521684;9699462", "class_list": "glycogene", "function": "Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome. [provided by RefSeq, Sep 2013]., [RefSeq]; Data indicate that the neonatal detection test sensitivity obtained was 95% with a positive predictive value of 1 in the analyses for both the arylsulfatase E (ARSE) and melanoma antigen family H1 (MAGEH1) genes. Publication Status: Online-Only, [RefSeq, PubMed]; Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature., [RefSeq, PubMed]; Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matrix during development (PubMed:7720070). Has no activity toward steroid sulfates (PubMed:7720070)., [UniProtKB, PubMed, PubMed]; Results show that Around 40 perdcent of male patients with brachytelephalangic chondrodysplasia punctata do not have detectable ARSE mutations or known maternal etiological factors., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 509, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q53FT2;Q53FU8", "ec_number_list": [ { "id": "3.1.6.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.2", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.1.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.-", "type": "external" }, { "id": "3.1.6.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.1", "type": "external" }, { "id": "3.1.6.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.18", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "1.8.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.7", "type": "external" }, { "id": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004065 arylsulfatase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0005795 Golgi stack", "go_biological_process": "GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P51690-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29016-1", "uniprot_id": [ { "id": "CD1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P29016", "type": "external" } ], "mass": 36939.0, "length": 333, "protein_name": "T-cell surface glycoprotein CD1b", "gene_name": "CD1B", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD1b precursor", "refseq_ac": [ { "id": "NP_001755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001755", "type": "external" } ], "gene_names_uniprotkb": "CD1B", "gene_names_refseq": "CD1B; CD1; R1", "protein_names_uniprotkb": "T-cell surface glycoprotein CD1b", "protein_names_refseq": "CD1B antigen, b polypeptide; T-cell surface glycoprotein CD1b precursor; T-cell surface glycoprotein CD1b; cortical thymocyte antigen CD1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:910); (R-HSA-198933)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10499918;10746781;10899914;10981968;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12118248;12213321;12483297;12588680;14716313;14719373;14764708;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16874306;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19349973;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;2447586;24715725;25703557;25716998;26154972;26284469;26300885;2701945;3097645;32983136;33043033;33384157;33392160;33479373;35013257;38579449;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Animal models for human group 1 CD1 protein function. Review article, [RefSeq, PubMed]; Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells., [UniProtKB, PubMed, PubMed]; CD1 molecules: Beyond antigen presentation. Review article, [RefSeq, PubMed]; CD4 and CD8 co-receptors modulate functional avidity of CD1b-restricted T cells. Publication Status: Online-Only, [RefSeq, PubMed]; Synthetic mycobacterial diacyl trehaloses reveal differential recognition by human T cell receptors and the C-type lectin Mincle. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail, and requires vesicular acidification to bind lipid antigens. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5TDK9;Q5TDL0;Q9UMM2", "ec_number_list": [], "go_molecular_function": "GO:0030883 endogenous lipid antigen binding;GO:0030884 exogenous lipid antigen binding;GO:0071723 lipopeptide binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib;GO:0048006 antigen processing and presentation, endogenous lipid antigen via MHC class Ib", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P29016-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VT79-1", "uniprot_id": [ { "id": "AXA81_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VT79", "type": "external" } ], "mass": 36879.0, "length": 327, "protein_name": "Annexin A8-like protein 1", "gene_name": "ANXA8L1", "organism": "Human", "refseq_name": "annexin A8-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001092315", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092315", "type": "external" } ], "gene_names_uniprotkb": "ANXA8L1; ANXA8L2", "gene_names_refseq": "ANXA8L1; ANXA8L2; bA145E20.2", "protein_names_uniprotkb": "Annexin A8-like protein 1", "protein_names_refseq": "annexin A8-like protein 1 isoform 1; annexin A8-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:728113)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18223320;25576301;25892735;26375851;28510447;34357683;39894887", "class_list": "", "function": "Claudin 18 and annexin A8 are frequently highly overexpressed in infiltrating ductal adenocarcinomas., [RefSeq, PubMed]; This gene encodes a member of the annexin family of evolutionarily conserved Ca2+ and phospholipid binding proteins. The encoded protein may function as an an anticoagulant that indirectly inhibits the thromboplastin-specific complex. Overexpression of this gene has been associated with acute myelocytic leukemia. A highly similar duplicated copy of this gene is found in close proximity on the long arm of chromosome 10. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A0B4J2D4;B2R939;Q53FY2;Q5VT78;Q96H89", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0001786 phosphatidylserine binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0042383 sarcolemma;GO:0012506 vesicle membrane", "go_biological_process": "GO:0007032 endosome organization;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5VT79-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2D1-1", "uniprot_id": [ { "id": "ATF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2D1", "type": "external" } ], "mass": 30674.0, "length": 282, "protein_name": "Cyclic AMP-dependent transcription factor ATF-5", "gene_name": "ATF5", "organism": "Human", "refseq_name": "cyclic AMP-dependent transcription factor ATF-5", "refseq_ac": [ { "id": "NP_001180575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180575", "type": "external" } ], "gene_names_uniprotkb": "ATF5; ATFX", "gene_names_refseq": "ATF5; ATFX; HMFN0395", "protein_names_uniprotkb": "Cyclic AMP-dependent transcription factor ATF-5; Activating transcription factor 5; Transcription factor ATFx; cAMP-dependent transcription factor ATF-5", "protein_names_refseq": "cAMP-dependent transcription factor ATF-5; cyclic AMP-dependent transcription factor ATF-5; transcription factor ATFx", "tax_id": 9606, "disease": "", "pathway": " (hsa:22809); (R-HSA-9648895); (R-HSA-9841251)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10373550;10982836;11087824;11139588;11163539;11237011;11241327;14630918;15221005;15358120;17140605;17267404;17726049;18055463;18195013;18332083;18458088;18701499;20423929;20654631;21212266;21791614;22442021;22528486;23186163;23481700;23665396;23876217;24216764;24379400;25418920;25512613;25931127;26213385;26992070;27426517;28814160;29242379;29557506;32302062;35939173;37217939;38014922;38223508;38472656;8455624;9153226", "class_list": "", "function": "ATF4 contributes to basal ATF5 transcription, and eIF2 kinases direct the translational expression of multiple transcription regulators by a mechanism involving delayed translation reinitiation, [RefSeq, PubMed]; ATF5 Attenuates Apoptosis in Hippocampal Neurons with Seizures Evoked by Mg[2+]-Free Medium via Regulating Mitochondrial Unfolded Protein Response., [RefSeq, PubMed]; ATF5 promotes malignant T cell survival through the PI3K/AKT/mTOR pathway in cutaneous T cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Activating Transcription Factor 5 Promotes Neuroblastoma Metastasis by Inducing Anoikis Resistance., [RefSeq, PubMed]; The mitochondrial UPR induced by ATF5 attenuates intervertebral disc degeneration via cooperating with mitophagy. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor that either stimulates or represses gene transcription through binding of different DNA regulatory elements such as cAMP response element (CRE) (consensus: 5'-GTGACGT[AC][AG]-3'), ATF5-specific response element (ARE) (consensus: 5'-C[CT]TCT[CT]CCTT[AT]-3') but also the amino acid response element (AARE), present in many viral and cellular promoters. Critically involved, often in a cell type-dependent manner, in cell survival, proliferation, and differentiation (PubMed:10373550, PubMed:15358120, PubMed:20654631, PubMed:21212266). Its transcriptional activity is enhanced by CCND3 and slightly inhibited by CDK4 (PubMed:15358120). Important regulator of the cerebral cortex formation, functions in cerebral cortical neuroprogenitor cells to maintain proliferation and to block differentiation into neurons. Must be down-regulated in order for such cells to exit the cycle and differentiate (By similarity). Participates in the pathways by which SHH promotes cerebellar granule neuron progenitor cells proliferation (By similarity). Critical for survival of mature olfactory sensory neurons (OSN), directs expression of OSN-specific genes (By similarity). May be involved in osteogenic differentiation (PubMed:22442021). Promotes cell proliferation and survival by inducing the expression of EGR1 sinergistically with ELK1. Once acetylated by EP300, binds to ARE sequences on target genes promoters, such as BCL2 and EGR1 (PubMed:21791614). Plays an anti-apoptotic role through the transcriptional regulation of BCL2, this function seems to be cell type-dependent (By similarity). Cooperates with NR1I3/CAR in the transcriptional activation of CYP2B6 in liver (PubMed:18332083). In hepatic cells, represses CRE-dependent transcription and inhibits proliferation by blocking at G2/M phase (PubMed:18701499, PubMed:22528486). May act as a negative regulator of IL1B transduction pathway in liver (PubMed:24379400). Upon IL1B stimulus, cooperates with NLK to activate the transactivation activity of C/EBP subfamily members (PubMed:25512613). Besides its function of transcription factor, acts as a cofactor of CEBPB to activate CEBPA and promote adipocyte differentiation (PubMed:24216764). Regulates centrosome dynamics in a cell-cycle- and centriole-age-dependent manner. Forms 9-foci symmetrical ring scaffold around the mother centriole to control centrosome function and the interaction between centrioles and pericentriolar material (PubMed:26213385)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Translation of ATF5 is regulated by the alternative 5'-UTR region of its mRNA, and ATF5 may play a role in protecting cells from amino acid limitation or arsenite-induced oxidative stress, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KND3;Q9BSA1;Q9UNQ3", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0019900 kinase binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9Y2D1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P33993-1", "uniprot_id": [ { "id": "MCM7_HUMAN", "url": "https://www.uniprot.org/uniprot/P33993", "type": "external" } ], "mass": 81308.0, "length": 719, "protein_name": "DNA replication licensing factor MCM7", "gene_name": "MCM7", "organism": "Human", "refseq_name": "DNA replication licensing factor MCM7 isoform 2", "refseq_ac": [ { "id": "NP_001265524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265524", "type": "external" } ], "gene_names_uniprotkb": "MCM7; CDC47; MCM2", "gene_names_refseq": "CDC47; MCM2; MCM7; P1.1-MCM3; P1CDC47; P85MCM; PNAS146; PPP1R104", "protein_names_uniprotkb": "DNA replication licensing factor MCM7; 3.6.4.12; CDC47 homolog; P1.1-MCM3", "protein_names_refseq": "CDC47 homolog; DNA replication licensing factor MCM7 isoform 2; DNA replication licensing factor MCM7; homolog of S. cerevisiae Cdc47; minichromosome maintenance deficient 7; protein phosphatase 1, regulatory subunit 104", "tax_id": 9606, "disease": "pancreatic ductal carcinoma (Disease Ontology:DOID:3587); hepatocellular carcinoma (Disease Ontology:DOID:684); hyperthyroidism (Disease Ontology:DOID:7998)", "pathway": " (hsa:4176); (R-HSA-176187); (R-HSA-176974); (R-HSA-68867); (R-HSA-68949); (R-HSA-68962); (R-HSA-69052)", "pathway_count": 7, "publication_count": 207, "publication_id_list": "10051570;10373362;10373557;10518787;10523313;10757793;10777662;10827953;10846177;10859164;10882098;10884341;11095689;11125146;11237011;11248027;11390642;11562349;11739726;11931757;12045100;12364596;12399544;12578958;12676583;12676925;12759351;12791985;12963847;14500360;14603323;14605214;14624239;14672932;15004565;15190204;15210935;15226314;15538388;15707391;15743907;15833913;16327781;16407120;16408927;16824194;16899510;17116885;17234884;17296731;17417653;17485488;17525332;18480045;18669648;18691976;19651622;19690332;19896182;20068231;20112406;20934997;22223895;22424782;22544926;22898188;22967762;23186163;23481700;23603117;23711367;23720738;23764002;23851460;24366607;24714562;24715725;25231993;25418920;25469497;25505266;25576301;25645385;25661590;25802875;25810538;25892735;26154972;26222030;26375851;26811146;26929215;26992070;27249176;27600516;27846572;27862975;27920218;28063628;28191891;28218747;28228285;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29769354;30069701;30315122;30379171;30397120;30429286;30484775;30524438;30779550;30784271;30833945;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32453425;32488085;32502341;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33836029;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34694004;34700328;34725712;34821526;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35490917;35561310;35580925;35585232;36010968;36215666;36241641;36284347;36581221;37938771;38253038;38665916;39004272;40596516;40914422;7842741;8196638;8265339;8626784;8943031;9278511;9278512;9305914;9635433;9660782", "class_list": "", "function": "Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:25661590, PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232, PubMed:9305914). The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (PubMed:32453425). Required for S-phase checkpoint activation upon UV-induced damage., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Acts as component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity., [UniProtKB, UniProtKB, UniProtKB]; MCM7 affects the cisplatin resistance of liver cancer cells and the development of liver cancer by regulating the PI3K/Akt signaling pathway., [RefSeq, PubMed]; RNF8-mediated multi-ubiquitination of MCM7: Linking disassembly of the CMG helicase with DNA damage response in human cells., [RefSeq, PubMed]; Targeted inhibition of the expression of both MCM5 and MCM7 by miRNA-214 impedes DNA replication and tumorigenesis in hepatocellular carcinoma cells., [RefSeq, PubMed]; The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 4 and 6 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. Cyclin D1-dependent kinase, CDK4, is found to associate with this protein, and may regulate the binding of this protein with the tumorsuppressor protein RB1/RB. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A4D2A1;A4D2A2;E9PGN9;Q15076;Q96D34;Q96GL1", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003697 single-stranded DNA binding;GO:0003678 DNA helicase activity;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0000785 chromatin;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0006271 DNA strand elongation involved in DNA replication;GO:0006260 DNA replication;GO:0006974 DNA damage response;GO:0009410 response to xenobiotic stimulus", "synthesized_glycan_count": 0, "hit_score": 21.2, "record_id": "P33993-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41223-1", "uniprot_id": [ { "id": "BUD31_HUMAN", "url": "https://www.uniprot.org/uniprot/P41223", "type": "external" } ], "mass": 17000.0, "length": 144, "protein_name": "Protein BUD31 homolog", "gene_name": "BUD31", "organism": "Human", "refseq_name": "protein BUD31 homolog", "refseq_ac": [ { "id": "NP_003901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003901", "type": "external" } ], "gene_names_uniprotkb": "BUD31; EDG2", "gene_names_refseq": "BUD31; Cwc14; EDG-2; EDG2; G10; YCR063W; fSAP17", "protein_names_uniprotkb": "Protein BUD31 homolog; Protein EDG-2; Protein G10 homolog", "protein_names_refseq": "BUD31 homolog; G10 maternal transcript homolog; functional spliceosome-associated protein 17; maternal G10 transcript; protein BUD31 homolog; protein EDG-2; protein G10 homolog", "tax_id": 9606, "disease": "schistosomiasis (Disease Ontology:DOID:1395)", "pathway": " (hsa:8896); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14762106;15084397;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;19608861;20423332;20980672;21536652;2176635;21911577;22110043;22365833;22959432;22961380;23222130;23236153;23345524;24196718;24304693;24448447;24714562;24737827;24914973;25091737;25418920;25555158;2558966;25731616;25802875;26092250;26375851;26385511;26420826;26969736;26992070;27108190;27377154;27459055;27683217;28062851;28076346;28218747;28228285;28502770;28510447;28781166;28832583;28904123;29242379;29301961;29360106;29361316;2963332;29786170;29902443;30315122;30315277;30410026;30484775;30599162;30705154;30728453;30765414;30975767;31409651;31844290;32157095;32179686;32329775;32357974;32494006;32938616;32983136;33177556;33243851;33446560;33936100;34019948;34229054;34301950;34822310;35051231;35215846;35318648;35385551;35580925;36010968;36284347;37047027;37217939;3757028;38665916;39136845;39531497;7841202;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Downregulation of BUD31 Promotes Prostate Cancer Cell Proliferation and Migration via Activation of p-AKT and Vimentin In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; High BUD31 expression is associated with hepatocellular carcinoma., [RefSeq, PubMed]; Involved in the pre-mRNA splicing process (PubMed:28076346, PubMed:28502770). May play a role as regulator of AR transcriptional activity; may increase AR transcriptional activity (PubMed:25091737)., [UniProtKB, PubMed, PubMed, PubMed]; The role of BUD31 in clear cell renal cell carcinoma: prognostic significance, alternative splicing, and tumor immune environment. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D274;B7Z4S9;D6W5S6;Q6IB53;Q9UDV1", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:0000785 chromatin;GO:0071007 U2-type catalytic step 2 spliceosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P41223-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZ19-1", "uniprot_id": [ { "id": "BACD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZ19", "type": "external" } ], "mass": 36357.0, "length": 329, "protein_name": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1", "gene_name": "KCTD13", "organism": "Human", "refseq_name": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1 isoform 1", "refseq_ac": [ { "id": "NP_849194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849194", "type": "external" } ], "gene_names_uniprotkb": "KCTD13; BACURD1; FKSG86; PDIP1; POLDIP1; PP6832", "gene_names_refseq": "BACURD1; FKSG86; KCTD13; PDIP1; POLDIP1; hBACURD1", "protein_names_uniprotkb": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1; BTB/POZ domain-containing protein KCTD13; Polymerase delta-interacting protein 1; TNFAIP1-like protein; hBACURD1", "protein_names_refseq": "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1 isoform 1; BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 1; BTB/POZ domain-containing protein KCTD13; CTD-2574D22.4; TNFAIP1-like protein; polymerase delta-interacting protein 1; potassium channel tetramerisation domain containing 13", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:253980); (R-HSA-9696264); (R-HSA-9696270)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10664463;11237011;11593007;11940653;12244061;12842009;14732713;15498874;15738000;16239304;16481321;18996843;19136556;19782033;20811643;22596160;22902628;23481700;24690281;24715725;25418920;25505266;25645385;25695269;25888806;26929215;26969432;26992070;27600516;27668412;27920218;28228285;28832583;28834231;28963344;29242379;29393594;29632046;30315122;30429286;31844290;31871319;31998317;32157095;32265295;32488085;32502341;32938616;33298915;33592498;33717175;33912179;33968037;35051231;35580925;36196997;36215666;36241641;37142655;8649376", "class_list": "", "function": "Gene dosage changes in KCTD13 result in penile and testicular anomalies via diminished androgen receptor function., [RefSeq, PubMed]; PDIP1 mRNA was expressed in 3T3-L1 adipocytes and THP-1 macrophages, [RefSeq, PubMed]; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for synaptic transmission (PubMed:19782033). The BCR(KCTD13) E3 ubiquitin ligase complex mediates the ubiquitination of RHOA, leading to its degradation by the proteasome (PubMed:19782033) Degradation of RHOA regulates the actin cytoskeleton and promotes synaptic transmission (By similarity). Mediates also the ubiquitination and degradation of GluN1/GRIN1 to regulate excitatory synaptic transmission and seizure susceptibility (PubMed:37142655)., [UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0R5;Q96P93;Q96SA1", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0031463 Cul3-RING ubiquitin ligase complex", "go_biological_process": "GO:0016477 cell migration;GO:0051260 protein homooligomerization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0035024 negative regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q8WZ19-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0F0-1", "uniprot_id": [ { "id": "ASXL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0F0", "type": "external" } ], "mass": 241919.0, "length": 2248, "protein_name": "Putative Polycomb group protein ASXL3", "gene_name": "ASXL3", "organism": "Human", "refseq_name": "putative Polycomb group protein ASXL3", "refseq_ac": [ { "id": "NP_085135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085135", "type": "external" } ], "gene_names_uniprotkb": "ASXL3; KIAA1713", "gene_names_refseq": "ASXL3; BRPS; KIAA1713", "protein_names_uniprotkb": "Putative Polycomb group protein ASXL3; Additional sex combs-like protein 3", "protein_names_refseq": "additional sex combs like 3, transcriptional regulator; additional sex combs like transcriptional regulator 3; additional sex combs-like protein 3; putative Polycomb group protein ASXL3", "tax_id": 9606, "disease": "Bainbridge-Ropers syndrome (Disease Ontology:DOID:0080893)", "pathway": " (hsa:80816)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;15138607;22898188;23383720;23481700;25892735;29093164;29242379;29493099;29557506;29605689;30158690;30379171;30664650;30779550;31217245;32387766;32938616;33242595;33751773;33968037;33981976;34436830;35051231;36010968;36177608;36180891;37217939;38253038", "class_list": "", "function": "Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Erratum:[Am J Med Genet A. 2023 Jan;191(1):310. doi: 10.1002/ajmg.a.62993. PMID: 36222436], [RefSeq, PubMed]; Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype., [RefSeq, PubMed]; Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions., [RefSeq, PubMed]; Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:30664650, PubMed:36180891). The PR-DUB complex is an epigenetic regulator of gene expression and acts as a transcriptional coactivator, affecting genes involved in development, cell communication, signaling, cell proliferation and cell viability (PubMed:30664650, PubMed:36180891). ASXL1, ASXL2 and ASXL3 function redundantly in the PR-DUB complex and are essential for chromatin recruitment and transcriptional activation of associated genes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; This gene encodes a protein containing a plant homeodomain (PHD) zinc finger domain that plays a role in the regulation of gene transcription. The encoded protein has been shown to negatively regulate lipogenesis by binding to and inhibiting the transcriptional activity of two nuclear hormone receptors, oxysterols receptor LXR-alpha (LXRalpha) and thyroid hormone receptor beta (TRbeta). The encoded protein may also inhibit histone deubiquitination. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. [provided by RefSeq, May 2017]., [RefSeq]; Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 108, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZMX6;Q96MU3;Q9UFC5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042975 peroxisome proliferator activated receptor binding", "go_cellular_component": "GO:0035517 PR-DUB complex;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0009887 animal organ morphogenesis;GO:0051055 negative regulation of lipid biosynthetic process;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9C0F0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15371-1", "uniprot_id": [ { "id": "EIF3D_HUMAN", "url": "https://www.uniprot.org/uniprot/O15371", "type": "external" } ], "mass": 63973.0, "length": 548, "protein_name": "Eukaryotic translation initiation factor 3 subunit D", "gene_name": "EIF3D", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit D", "refseq_ac": [ { "id": "NP_003744", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003744", "type": "external" } ], "gene_names_uniprotkb": "EIF3D; EIF3S7", "gene_names_refseq": "EIF3D; EIF3S7; eIF3-p66; eIF3-zeta", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit D; Eukaryotic translation initiation factor 3 subunit 7; eIF-3-zeta; eIF3 p66; eIF3d", "protein_names_refseq": "eukaryotic translation initiation factor 3 subunit D; eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa; translation initiation factor eIF3 p66 subunit", "tax_id": 9606, "disease": "Parkinsonism (Disease Ontology:DOID:0080855)", "pathway": " (hsa:8664); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 169, "publication_id_list": "10364207;10659855;1095581;11018020;1104615;11237011;12493757;12588972;12773399;14567916;15116427;15592455;15703437;16322461;16766523;17081983;17322308;17525332;17581632;18056426;18088087;18452278;18477386;1856230;18599441;18669648;18691976;19415658;19651622;19664994;19690332;20068231;21406692;21872626;21993680;22322005;22424782;22706990;23481700;24366607;24397554;24715725;25322666;25370813;25418920;25576301;25645385;25682860;25787250;25849773;25880248;25892735;26008152;26036682;26154972;26375851;26617750;26758079;26811146;26929215;26992070;27035563;27462815;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30379171;30397120;30410026;30429286;30484775;30524438;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34725712;34932366;35051231;35132862;35138101;35251023;35318648;35561310;35580925;36010968;36215666;36240223;36241641;36284347;36997088;37144468;37314929;37683648;37938771;38665916;40596516;40914422;429297;592398;592399;641056;6853548;6901506;7000367;8943342;9045610;9341143;9732867;9857202", "class_list": "", "function": "(Microbial infection) In case of FCV infection, plays a role in the ribosomal termination-reinitiation event leading to the translation of VP2 (PubMed:18056426)., [UniProtKB, PubMed]; Breast cancer cell mesenchymal transition and metastasis directed by DAP5/eIF3d-mediated selective mRNA translation., [RefSeq, PubMed]; EIF3d controls the persistent integrated stress response., [RefSeq, PubMed]; EIF3d: A driver of noncanonical cap-dependent translation of specific mRNAs and a trigger of biological/pathological processes. Review article, [RefSeq, PubMed]; Eukaryotic translation initiation factor-3 (eIF3), the largest of the eIFs, is a multiprotein complex composed of at least ten nonidentical subunits. The complex binds to the 40S ribosome and helps maintain the 40S and 60S ribosomal subunits in a dissociated state. It is also thought to play a role in the formation of the 40S initiation complex by interacting with the ternary complex of eIF2/GTP/methionyl-tRNA, and by promoting mRNA binding. The protein encoded by this gene is the major RNA binding subunit of the eIF3 complex. [provided by RefSeq, Jul 2008]., [RefSeq]; Translational fidelity screens in mammalian cells reveal eIF3 and eIF4G2 as regulators of start codon selectivity., [RefSeq, PubMed]; mRNA cap-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, a complex required for several steps in the initiation of protein synthesis of a specialized repertoire of mRNAs (PubMed:27462815). The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation (PubMed:18599441, PubMed:25849773). The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression (PubMed:25849773). In the eIF-3 complex, EIF3D specifically recognizes and binds the 7-methylguanosine cap of a subset of mRNAs (PubMed:27462815)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MWD3;B2R7D4;B4DTF8;B4DVY1;Q3MJD9;Q5M9Q6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003743 translation initiation factor activity;GO:0098808 mRNA cap binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse;GO:0016282 eukaryotic 43S preinitiation complex;GO:0033290 eukaryotic 48S preinitiation complex", "go_biological_process": "GO:0075522 IRES-dependent viral translational initiation;GO:0006413 translational initiation;GO:0001732 formation of cytoplasmic translation initiation complex;GO:0075525 viral translational termination-reinitiation;GO:0002191 cap-dependent translational initiation", "synthesized_glycan_count": 0, "hit_score": 17.4, "record_id": "O15371-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56134-1", "uniprot_id": [ { "id": "ATPK_HUMAN", "url": "https://www.uniprot.org/uniprot/P56134", "type": "external" } ], "mass": 10918.0, "length": 94, "protein_name": "ATP synthase F(0) complex subunit f, mitochondrial", "gene_name": "ATP5MF", "organism": "Human", "refseq_name": "ATP synthase F(0) complex subunit f, mitochondrial isoform 2b", "refseq_ac": [ { "id": "NP_001003713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003713", "type": "external" } ], "gene_names_uniprotkb": "ATP5MF; ATP5J2; ATP5JL", "gene_names_refseq": "ATP5J2; ATP5JL; ATP5MF", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit f, mitochondrial; ATP synthase membrane subunit f", "protein_names_refseq": "ATP synthase F(0) complex subunit f, mitochondrial isoform 2b; ATP synthase F(0) complex subunit f, mitochondrial; ATP synthase f chain, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit f; ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2; F1F0-type ATPase subunit f; F1Fo-ATP synthase complex Fo membrane domain f subunit; F1Fo-ATPase synthase f subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:9551); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "11237011;17121862;17510655;17624330;18323778;20833715;21836051;22114354;22223895;22252321;22864911;24098383;24687277;24714562;25285856;25418920;25576301;25764979;25781180;25892735;25997101;26154972;26416881;26477565;26530328;26811146;26929215;26968360;26992070;27479602;27485409;27623147;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29769354;30315122;30833945;31530632;31611695;31844290;31848261;32157095;32387766;32488085;32502341;32653453;32938616;32983136;33298915;33392160;33592498;33929490;33936100;33968037;34171305;34357683;34561969;34725712;34932366;35051231;35083852;35138101;35318648;35561310;35580925;36241641;37244256;37938771;4517936;9653160", "class_list": "", "function": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]., [RefSeq]; Subunit f, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (PubMed:37244256)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The F1Fo-ATPase inhibitor, IF1, is a critical regulator of energy metabolism in cancer cells. Review article, [RefSeq, PubMed]; The new role of F1Fo ATP synthase in mitochondria-mediated neurodegeneration and neuroprotection. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9J8H9;F8W7V3;O76079;Q6IBB3;Q96L83;Q9BTI8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:1902600 proton transmembrane transport;GO:0006754 ATP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P56134-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LC9-1", "uniprot_id": [ { "id": "BMF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LC9", "type": "external" } ], "mass": 20508.0, "length": 184, "protein_name": "Bcl-2-modifying factor", "gene_name": "BMF", "organism": "Human", "refseq_name": "bcl-2-modifying factor isoform bmf-1", "refseq_ac": [ { "id": "NP_001003940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003940", "type": "external" } ], "gene_names_uniprotkb": "BMF", "gene_names_refseq": "BMF", "protein_names_uniprotkb": "Bcl-2-modifying factor", "protein_names_refseq": "bcl-2-modifying factor isoform bmf-1; bcl-2-modifying factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:90427); (R-HSA-111453); (R-HSA-139910)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "10195903;10198631;10807576;11214971;11237011;11463392;11546872;12591950;12624108;14574334;17256834;18309326;18451170;18591385;22258404;23291630;24346116;24714562;25645385;25880248;26375851;26728094;27600516;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29393594;29508533;29786170;30315122;30429286;31154438;31844290;32157095;32357974;32502341;32620849;32983136;33123756;33149265;33658012;34932366;35051231;35580925;36284347;39531497;7834748", "class_list": "", "function": "Characterization of an alternative BAK-binding site for BH3 peptides. Publication Status: Online-Only, [RefSeq, PubMed]; FBW7 suppresses ovarian cancer development by targeting the N(6)-methyladenosine binding protein YTHDF2. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in apoptosis. Isoform 1 seems to be the main initiator., [UniProtKB]; The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; The transcription factor IRF4 represses proapoptotic BMF and BIM to licence multiple myeloma survival., [RefSeq, PubMed]; Up or downregulation of Bmf isoforms may have a role in regulating growth and survival in B cells and leukemic B-CLL cells, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2M396;Q6NT30;Q6NT56;Q6P9F6;Q7Z7D4;Q7Z7D5;Q9H7K7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016459 myosin complex", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0031334 positive regulation of protein-containing complex assembly;GO:0010507 negative regulation of autophagy;GO:0090200 positive regulation of release of cytochrome c from mitochondria;GO:0043276 anoikis", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q96LC9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01814-1", "uniprot_id": [ { "id": "AT2B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01814", "type": "external" } ], "mass": 136876.0, "length": 1243, "protein_name": "Plasma membrane calcium-transporting ATPase 2", "gene_name": "ATP2B2", "organism": "Human", "refseq_name": "plasma membrane calcium-transporting ATPase 2 isoform 1", "refseq_ac": [ { "id": "NP_001001331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001331", "type": "external" } ], "gene_names_uniprotkb": "ATP2B2; PMCA2", "gene_names_refseq": "ATP2B2; DFNA82; PMCA2a; PMCA2i; PMCA2", "protein_names_uniprotkb": "Plasma membrane calcium-transporting ATPase 2; 7.2.2.10; PMCA2; Plasma membrane calcium ATPase isoform 2; Plasma membrane calcium pump isoform 2", "protein_names_refseq": "ATPase, Ca++ transporting, plasma membrane 2; plasma membrane Ca(2+)-ATPase; plasma membrane Ca2+ pump 2; plasma membrane calcium ATPase; plasma membrane calcium pump; plasma membrane calcium-transporting ATPase 2 isoform 1; plasma membrane calcium-transporting ATPase 2", "tax_id": 9606, "disease": "Hailey-Hailey disease (Disease Ontology:DOID:0050429); autosomal dominant nonsyndromic deafness 82 (Disease Ontology:DOID:0070603); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:491); (R-HSA-418359); (R-HSA-5578775); (R-HSA-936837)", "pathway_count": 4, "publication_count": 130, "publication_id_list": "10.1101/2023.09.13.557529;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11237011;11904675;12119109;12406570;12624087;12763866;12832055;12953268;1313367;1374913;1427863;15174025;15260953;15598648;15754088;15829536;15831496;15919184;15925480;16182249;1656976;16700898;16754674;1693919;17224452;17234811;17287340;17357072;17486119;1827443;18578522;18669648;18723824;18995841;19278978;19345671;19413330;19415658;19751721;19878721;20068231;20298697;20388710;21108950;2160952;22186024;22210847;2226863;22427649;22707725;22972900;23196729;23362265;23549614;23610579;24275569;2430951;24392018;2477373;2559024;25690014;25994790;26421717;27067231;27920218;28063628;28228285;2838329;2844759;28645727;28832583;28904123;29242379;29393594;29452612;2953725;29557506;29632046;29632711;29655659;29786170;30535804;31154438;31217245;31844290;32157095;32350084;32387766;32938616;32983136;33043033;33298915;33592498;33912179;33968037;34171305;34433824;34932366;35051231;35154160;35251023;35580925;36241641;37675773;5961668;6328127;6832622;7626145;7702581;7929371;8021246;8045293;8245032;8298639;8428366;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "A V1143F substitution in PMAC2 alters the binding of caslmodulin to the calmodulin-binding domain leading to impaired calcium signaling., [RefSeq, PubMed]; ATP-driven Ca(2+) ion pump involved in the maintenance of basal intracellular Ca(2+) levels in specialized cells of cerebellar circuit and vestibular and cochlear systems (PubMed:15829536, PubMed:17234811). Uses ATP as an energy source to transport cytosolic Ca(2+) ions across the plasma membrane to the extracellular compartment (PubMed:15829536, PubMed:17234811). Has fast activation and Ca(2+) clearance rate suited to control fast neuronal Ca(2+) dynamics. At parallel fiber to Purkinje neuron synapse, mediates presynaptic Ca(2+) efflux in response to climbing fiber-induced Ca(2+) rise. Provides for fast return of Ca(2+) concentrations back to their resting levels, ultimately contributing to long-term depression induction and motor learning (By similarity). Plays an essential role in hearing and balance (PubMed:15829536, PubMed:17234811). In cochlear hair cells, shuttles Ca(2+) ions from stereocilia to the endolymph and dissipates Ca(2+) transients generated by the opening of the mechanoelectrical transduction channels. Regulates Ca(2+) levels in the vestibular system, where it contributes to the formation of otoconia (PubMed:15829536, PubMed:17234811). In non-excitable cells, regulates Ca(2+) signaling through spatial control of Ca(2+) ions extrusion and dissipation of Ca(2+) transients generated by store-operated channels (PubMed:25690014). In lactating mammary gland, allows for the high content of Ca(2+) ions in the milk (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures., [RefSeq, PubMed]; Catalyzes the hydrolysis of ATP coupled with the transport of calcium., [UniProtKB, UniProtKB, UniProtKB]; Loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment., [RefSeq, PubMed]; PMCA2 loss plays a role in the ataxic phenotype, but can paradoxically also minimise calcium rises in cerebellar Purkinje neurons, thereby ensuring their resilience and survival. Review article, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O00766;Q12994;Q16818", "ec_number_list": [ { "id": "7.2.2.10", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.10", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0006816 calcium ion transport;GO:0034220 monoatomic ion transmembrane transport;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0030182 neuron differentiation;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q01814-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7F0-1", "uniprot_id": [ { "id": "AT133_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7F0", "type": "external" } ], "mass": 138043.0, "length": 1226, "protein_name": "Polyamine-transporting ATPase 13A3", "gene_name": "ATP13A3", "organism": "Human", "refseq_name": "polyamine-transporting ATPase 13A3 isoform 1", "refseq_ac": [ { "id": "NP_078800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078800", "type": "external" } ], "gene_names_uniprotkb": "ATP13A3; AFURS1", "gene_names_refseq": "AFURS1; ATP13A3; PPH5", "protein_names_uniprotkb": "Polyamine-transporting ATPase 13A3; 7.6.2.16; ATPase family homolog up-regulated in senescence cells 1; Putrescine transporting ATPase", "protein_names_refseq": "ATPase family homolog up-regulated in senescence cells 1; ATPase type 13A3; polyamine-transporting ATPase 13A3 isoform 1; polyamine-transporting ATPase 13A3; probable cation-transporting ATPase 13A3; putrescine transporting ATPase", "tax_id": 9606, "disease": "Kufor-Rakeb syndrome (Disease Ontology:DOID:0060556); juvenile-onset Parkinson's disease (Disease Ontology:DOID:0060893); Parkinson's disease (Disease Ontology:DOID:14330); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); primary pulmonary hypertension (Disease Ontology:DOID:14557); hereditary spastic paraplegia (Disease Ontology:DOID:2476); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:79572)", "pathway_count": 1, "publication_count": 110, "publication_id_list": "11237011;11867234;17081983;18452278;18578522;18669648;18691976;18707149;18767875;19690332;20068231;20166139;21406692;21872626;23186163;23481700;24275569;24366607;24714562;25418920;25502872;25576301;25645385;25880248;25892735;26375851;26728094;26811146;26992070;27429841;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29093164;29242379;29314611;29393594;29437277;29493099;29505581;29508533;29557506;29632046;29632711;29650961;29769354;29786170;30315122;30410026;30429286;30524438;30679663;30779550;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091845;33123756;33141586;33298915;33310703;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34171305;34211107;34357683;34433824;34493544;34509645;34725712;34932366;35051231;35154160;35251023;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38253038;38626311", "class_list": "", "function": "ATP-driven pump involved in endocytosis-dependent polyamine transport. Uses ATP as an energy source to transfer polyamine precursor putrescine from the endosomal compartment to the cytosol., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]., [RefSeq]; ATP13A3 variants promote pulmonary arterial hypertension by disrupting polyamine transport., [RefSeq, PubMed]; Case-control analyses reveal significant overrepresentation of rare variants in ATP13A3, AQP1 and SOX17, and provide independent validation of a critical role for GDF2 in heritable pulmonary arterial hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; In addition to EIF2AK4, which has been already suggested to be associated with pulmonary veno-occlusive disease, we identified the novel candidate genes ATP13A3, CD248, EFCAB4B, involved in lung vascular remodeling that represent reliable drivers contributing to the disease according to their biological functions/inheritance patterns Publication Status: Online-Only, [RefSeq, PubMed]; Pairing a prognostic target with potential therapeutic strategy for head and neck cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NC11;Q96KS1", "ec_number_list": [ { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "7.6.2.16", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.16", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0019829 ATPase-coupled monoatomic cation transmembrane transporter activity;GO:0015662 P-type ion transporter activity", "go_cellular_component": "GO:0016020 membrane;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:1902047 polyamine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9H7F0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BM9-1", "uniprot_id": [ { "id": "ARL8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BM9", "type": "external" } ], "mass": 21416.0, "length": 186, "protein_name": "ADP-ribosylation factor-like protein 8A", "gene_name": "ARL8A", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 8A isoform 2", "refseq_ac": [ { "id": "NP_001243058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243058", "type": "external" } ], "gene_names_uniprotkb": "ARL8A; ARL10B; GIE2", "gene_names_refseq": "ARL10B; ARL8A; GIE2", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 8A; ADP-ribosylation factor-like protein 10B; Novel small G protein indispensable for equal chromosome segregation 2", "protein_names_refseq": "ADP ribosylation factor like GTPase 8A; ADP-ribosylation factor-like 10B; ADP-ribosylation factor-like 8A; ADP-ribosylation factor-like protein 8A isoform 2; ADP-ribosylation factor-like protein 8A; GTPase indispensable for equal segregation of chromosomes 2; novel small G protein indispensable for equal chromosome segregation 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:127829); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11237011;15331635;16537643;17897319;23650620;26154972;27846572;28325809;28832583;29237092;29242379;29317506;30429286;31154438;31530632;31844290;32157095;32350084;32983136;33043033;34357683;35051231;35251023;35314674;35318648;35561310;35580925;36284347;37938771;39894887;8692836", "class_list": "", "function": "Overexpression of Arl8a or Arl8b results in a microtubule-dependent redistribution of lysosomes towards the cell periphery. Live cell imaging suggested a role for Arl8a and Arl8b as positive regulators of lysosomal transport.[Ar18a] [Ar18b], [RefSeq, PubMed]; Plays a role in lysosome motility (By similarity). In neurons, mediates the anterograde axonal long-range transport of presynaptic lysosome-related vesicles required for presynaptic biogenesis and synaptic function (By similarity). May play a role in chromosome segregation (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Results suggest that the novel GTPases Gie1 and Gie2 associate with microtubules, and might be involved in chromosome segregation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KXD0", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0048487 beta-tubulin binding;GO:0043014 alpha-tubulin binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse;GO:0051233 spindle midzone", "go_biological_process": "GO:0007059 chromosome segregation;GO:0015031 protein transport;GO:0051301 cell division;GO:0008089 anterograde axonal transport", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q96BM9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2C3-1", "uniprot_id": [ { "id": "B3GT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2C3", "type": "external" } ], "mass": 36189.0, "length": 310, "protein_name": "Beta-1,3-galactosyltransferase 5", "gene_name": "B3GALT5", "organism": "Human", "refseq_name": "beta-1,3-galactosyltransferase 5 isoform a", "refseq_ac": [ { "id": "NP_001265579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265579", "type": "external" } ], "gene_names_uniprotkb": "B3GALT5", "gene_names_refseq": "3-GalTase 5; B3GALT5; B3GalT-V; B3GalTx; B3T5; GLCT5; beta-1; beta-3-Gx-T5; beta3Gal-T5", "protein_names_uniprotkb": "Beta-1,3-galactosyltransferase 5; 2.4.1.-; Beta-1,3-GalTase 5; Beta-3-Gx-T5; Beta3Gal-T5; Beta3GalT5; UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 5; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5; b3Gal-T5", "protein_names_refseq": "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5; beta-1,3-galactosyltransferase 5 isoform a; homolog of C. elegans Bt toxin resistance gene bre-5", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793)", "pathway": " (hsa:10317); (R-HSA-9037629)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10206952;10212226;10406968;10580128;10837462;11237011;12107078;12222957;12678917;14534330;14688233;15158662;1520296;1702034;17123352;1716630;1740457;1977660;24715725;24953560;29557506;29789417;31844290;35051231;36495345;39163480;39224045;7876235;8207002;8240337;8288606;8333853;9219535;9582303", "class_list": "glycogene;glycosyltransferase", "function": "B3galt5 deficiency attenuates hepatocellular carcinoma by suppressing mTOR/p70s6k-mediated glycolysis. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor., [UniProtKB, PubMed, PubMed]; High expression of B3GALT5 suppresses the galectin-4-mediated peritoneal dissemination of poorly differentiated gastric cancer cells., [RefSeq, PubMed]; Highly expressed B3GALT5-AS1 contributes to gastric cancer progression by recruiting WDR5 to mediate B3GALT5 and regulating beta-catenin/ZEB1 axis., [RefSeq, PubMed]; This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 385, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8KA86;D3DSI3;Q2M3L5;Q53Z19;Q9NY96;Q9P1X6;Q9P1X7", "ec_number_list": [ { "id": "2.4.1.86", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.86", "type": "external" }, { "id": "2.4.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.62", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0008499 N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity;GO:0016758 hexosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0009101 glycoprotein biosynthetic process;GO:0009312 oligosaccharide biosynthetic process", "synthesized_glycan_count": 790, "hit_score": 3.8, "record_id": "Q9Y2C3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y284-1", "uniprot_id": [ { "id": "ASTER_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y284", "type": "external" } ], "mass": 12068.0, "length": 106, "protein_name": "PAT complex subunit Asterix", "gene_name": "WDR83OS", "organism": "Human", "refseq_name": "PAT complex subunit Asterix", "refseq_ac": [ { "id": "NP_057229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057229", "type": "external" } ], "gene_names_uniprotkb": "WDR83OS; C19orf56; CGI-140; My006; PTD008", "gene_names_refseq": "ASTERIX; C19orf56; NEDFHCA; PAT-10; PAT10; PTD008; WDR83OS", "protein_names_uniprotkb": "PAT complex subunit Asterix; PAT-10; PAT10; Protein associated with the ER translocon of 10kDa; WD repeat domain 83 opposite strand; WDR83 opposite strand", "protein_names_refseq": "PAT complex subunit Asterix; UPF0139 membrane protein C19orf56; WDR83 opposite strand; protein Asterix; protein associated with the ER translocon of 10kDa", "tax_id": 9606, "disease": "neurodevelopmental disorder with variable familial hypercholanemia (MONDO:MONDO:0975877)", "pathway": " (hsa:51398)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;12475939;25892735;26154972;26758079;26992070;27600516;28218747;28228285;28832583;28834231;29242379;29393594;29557506;29769354;30250217;30315122;30429286;30779550;30833945;31154438;31844290;32157095;32488085;32814900;33691108;33912179;34561969;34932366;35051231;35580925;36261522;36284347;36581221;37938771;39471804", "class_list": "", "function": "Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:12475939, PubMed:32814900, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:32814900, PubMed:36261522). Within the MPT complex, the PAT subcomplex sequesters any highly polar regions in the transmembrane domains away from the non-polar membrane environment until they can be buried in the interior of the fully assembled protein (By similarity). Within the PAT subcomplex, WDR83OS/Asterix binds to and redirects the substrate to a location behind the SEC61 complex (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R4T8;Q9BVI3", "ec_number_list": [], "go_molecular_function": "GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0160064 multi-pass translocon complex", "go_biological_process": "GO:0045048 protein insertion into ER membrane;GO:0160063 multi-pass transmembrane protein insertion into ER membrane", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9Y284-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36542-1", "uniprot_id": [ { "id": "ATPG_HUMAN", "url": "https://www.uniprot.org/uniprot/P36542", "type": "external" } ], "mass": 32996.0, "length": 298, "protein_name": "ATP synthase F(1) complex subunit gamma, mitochondrial", "gene_name": "ATP5F1C", "organism": "Human", "refseq_name": "ATP synthase F(1) complex subunit gamma, mitochondrial isoform L (liver) precursor", "refseq_ac": [ { "id": "NP_001001973", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001973", "type": "external" } ], "gene_names_uniprotkb": "ATP5F1C; ATP5C1; ATP5CL1; ATP5C", "gene_names_refseq": "ATP5C1; ATP5CL1; ATP5C; ATP5F1C", "protein_names_uniprotkb": "ATP synthase F(1) complex subunit gamma, mitochondrial; ATP synthase F1 subunit gamma; F-ATPase gamma subunit", "protein_names_refseq": "ATP synthase F(1) complex subunit gamma, mitochondrial isoform L (liver) precursor; ATP synthase F(1) complex subunit gamma, mitochondrial; ATP synthase gamma chain, mitochondrial; ATP synthase subunit gamma, mitochondrial; ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1; F-ATPase gamma subunit; mitochondrial ATP synthase, gamma subunit 1", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:509); (R-HSA-163210); (R-HSA-8949613); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 128, "publication_id_list": "11923310;12198491;14623864;15522782;15870080;16115876;17101804;17121862;17297443;17510655;17579211;17624330;18323778;19608861;19651622;19841671;20068231;20833715;21836051;22114354;22252321;22262461;22645359;22710082;22864911;23186163;23201127;23931759;24098383;24315374;24366607;24520911;24687277;24714562;25285856;25418920;25576301;25764979;25781180;25810538;25892735;25997101;26154972;26375851;26416881;26477565;26504172;26530328;26728094;26923599;26968360;26992070;27090790;27452731;27479602;27485409;27496948;27623147;27642048;27846572;27920218;28218747;28228285;28377575;28396416;28832583;28834231;29242379;29301859;29437277;29493099;29499186;29557506;29769354;29932645;30120231;30192525;30315122;30410026;30429286;30524438;30833945;31154438;31217245;31327635;31530632;31611695;31695197;31844290;32119511;32157095;32350084;32357974;32502341;32897882;32938616;32983136;33141586;33214551;33257573;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34357683;34704252;34725712;34943861;35051231;35580925;35870450;36215666;36241641;36284347;36629048;37074911;37244256;37938771;38665916;4517936;7623837;8227057", "class_list": "", "function": "Both gamma and delta subunits silenced cells displayed decreased ATP synthase function - lowered rate of ADP-stimulated respiration, a two-fold increased sensitivity of respiration to inhibitor oligomycin, and impaired utilization of mitochondrial membrane potential for ADP phosphorylation., [RefSeq, PubMed]; Subunit gamma, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). With the central stalk subunit delta, is essential for the biogenesis of F(1) catalytic part of the ATP synthase complex namely in the formation of F1 assembly intermediate (PubMed:29499186)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KA31;Q5VYP3;Q6I9V2;Q96AS8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0046933 proton-transporting ATP synthase activity, rotational mechanism", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0016020 membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0006754 ATP biosynthetic process;GO:0015986 proton motive force-driven ATP synthesis;GO:0006119 oxidative phosphorylation;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "P36542-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42127-1", "uniprot_id": [ { "id": "ASIP_HUMAN", "url": "https://www.uniprot.org/uniprot/P42127", "type": "external" } ], "mass": 14515.0, "length": 132, "protein_name": "Agouti-signaling protein", "gene_name": "ASIP", "organism": "Human", "refseq_name": "agouti-signaling protein precursor", "refseq_ac": [ { "id": "NP_001663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001663", "type": "external" } ], "gene_names_uniprotkb": "ASIP; AGTIL; AGTI; ASP", "gene_names_refseq": "AGSW; AGTIL; AGTI; ASIP; ASP; SHEP9", "protein_names_uniprotkb": "Agouti-signaling protein; ASP; Agouti switch protein", "protein_names_refseq": "agouti signaling protein, nonagouti homolog; agouti switch protein; agouti-signaling protein precursor; nonagouti homolog", "tax_id": 9606, "disease": "pigmentation disease (Disease Ontology:DOID:10123); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); obesity and hypopigmentation (MONDO:MONDO:0859351)", "pathway": " (hsa:434)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11833005;15701517;25382380;25705849;25801600;28005267;36536132;7757071;7937887", "class_list": "", "function": "ASIP expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; ASIP gene mutation is involved in the development of facial pigmented lesions., [RefSeq, PubMed]; Aberrant expression of agouti signaling protein (ASIP) as a cause of monogenic severe childhood obesity., [RefSeq, PubMed]; Data show that ASIP TG/TG diplotype, which is known to be associated with melanoma risk, was linked to a 5-fold increase in hazard of death from melanoma., [RefSeq, PubMed]; In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. [provided by RefSeq, Jul 2008]., [RefSeq]; Polymorphisms of ASIP were found to be associated with skin, hair, and eye color in a phenotypically diverse Brazilian population. More research is needed to determine its usefulness in forensic science. Erratum:[Leg Med (Tokyo). 2016 Mar;19:127. de Araujo Lima, F [corrected to Lima, F A]; de Toledo Goncalves, F [corrected to Goncalves, F T]; Fridman, Cintia [corrected to Fridman, C]], [RefSeq, PubMed]; Signaling protein that functions as an antagonist of melanocyte-stimulating-hormone receptor MC1R, thereby playing a role in the regulation of melanogenesis (PubMed:36536132). Binding to MC1R prevents alpha-MSH-induced signaling and inhibits cAMP production, resulting in down-regulation of eumelanogenesis (brown/black pigment) and increased pheomelanin (yellow/red pigment) synthesis (By similarity). In higher primates, Agouti may affect the quality of hair pigmentation rather than the pattern of pigment deposition (PubMed:11833005). May also play a role in neuroendocrine aspects of melanocortin action., [UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3SXL2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0048019 receptor antagonist activity;GO:0005184 neuropeptide hormone activity;GO:0070996 type 1 melanocortin receptor binding;GO:0031779 melanocortin receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0048022 negative regulation of melanin biosynthetic process;GO:0006091 generation of precursor metabolites and energy;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0009755 hormone-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P42127-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46597-1", "uniprot_id": [ { "id": "ASMT_HUMAN", "url": "https://www.uniprot.org/uniprot/P46597", "type": "external" } ], "mass": 38453.0, "length": 345, "protein_name": "Acetylserotonin O-methyltransferase", "gene_name": "ASMT", "organism": "Human", "refseq_name": "acetylserotonin O-methyltransferase isoform 1", "refseq_ac": [ { "id": "NP_001164509", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164509", "type": "external" } ], "gene_names_uniprotkb": "ASMT", "gene_names_refseq": "ASMTY; ASMT; HIOMTY; HIOMT", "protein_names_uniprotkb": "Acetylserotonin O-methyltransferase; 2.1.1.4; HIOMT; Hydroxyindole O-methyltransferase", "protein_names_refseq": "acetylserotonin N-methyltransferase; acetylserotonin O-methyltransferase isoform 1; acetylserotonin methyltransferase (Y chromosome); hydroxyindole O-methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:438); (R-HSA-209931)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "11237011;12379098;12511643;1540578;17505466;17957233;21251267;21615493;22694957;22775292;23349736;2590185;26279084;26510398;29794137;30484775;33586202;33936100;34184492;7989373;8397829;8574683;8661026;8752109;8842389", "class_list": "", "function": "A novel signature predicts recurrence risk and therapeutic response in breast cancer patients., [RefSeq, PubMed]; Catalyzes the transfer of a methyl group onto N-acetylserotonin, producing melatonin (N-acetyl-5-methoxytryptamine)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Does not show Acetylserotonin O-methyltransferase activity., [UniProtKB, PubMed]; Even when considering only high-grade glioma patients, a low ASMT:CYP1B1 value, which suggests decreased melatonin and enhanced aggressiveness, was strongly associated with poor survival. Overall, our data reveal the prognostic value of the melatonergic system of gliomas and provide insights into the therapeutic role of melatonin., [RefSeq, PubMed]; Low HIOMT expression is associated with lung cancer., [RefSeq, PubMed]; The pseudoautosomal region of human X and Y chromosome encoded ASMT protein was predicted to interact with many small molecules than that of interacting proteins., [RefSeq, PubMed]; This gene belongs to the methyltransferase superfamily, and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. The encoded enzyme catalyzes the final reaction in the synthesis of melatonin, and is abundant in the pineal gland. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Jan 2010]., [RefSeq]; [Association of polymorphic variants of DDC (AADC), AANAT and ASMT genes encoding enzymes for melatonin synthesis with the higher risk of neuropsychiatric disorders].', trans 'Assotsiatsiya polimorfizmov genov DDC (AADC), AANAT i ASMT, kodiruyushchikh fermenty sinteza melatonina, s riskom razvitiya psikhonevrologicheskikh rasstroistv. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RC33;Q16598;Q5JQ72;Q5JQ73", "ec_number_list": [ { "id": "2.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.4", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0008171 O-methyltransferase activity;GO:0008172 S-methyltransferase activity;GO:0017096 acetylserotonin O-methyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0006412 translation;GO:0032259 methylation;GO:0030187 melatonin biosynthetic process;GO:0046219 indolalkylamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P46597-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48201-1", "uniprot_id": [ { "id": "AT5G3_HUMAN", "url": "https://www.uniprot.org/uniprot/P48201", "type": "external" } ], "mass": 14693.0, "length": 142, "protein_name": "ATP synthase F(0) complex subunit C3, mitochondrial", "gene_name": "ATP5MC3", "organism": "Human", "refseq_name": "ATP synthase F(0) complex subunit C3, mitochondrial isoform A precursor", "refseq_ac": [ { "id": "NP_001002258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002258", "type": "external" } ], "gene_names_uniprotkb": "ATP5MC3; ATP5G3", "gene_names_refseq": "ATP5G3; ATP5MC3; DYTSPG; P3", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit C3, mitochondrial; ATP synthase lipid-binding protein; ATP synthase membrane subunit c locus 3; ATP synthase proteolipid P3; ATP synthase proton-transporting mitochondrial F(0) complex subunit C3; ATPase protein 9; ATPase subunit c", "protein_names_refseq": "ATP synthase F(0) complex subunit C3, mitochondrial isoform A precursor; ATP synthase F(0) complex subunit C3, mitochondrial; ATP synthase lipid-binding protein, mitochondrial; ATP synthase proteolipid P3; ATP synthase proton-transporting mitochondrial F(0) complex subunit C3; ATP synthase subunit 9; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9); ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9); ATP synthase, mitochondrial, C subunit-3; ATPase protein 9; ATPase subunit C; dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit", "tax_id": 9606, "disease": "early-onset dystonia and/or spastic paraplegia (Disease Ontology:DOID:0070445); mitochondrial complex V (ATP synthase) deficiency (Disease Ontology:DOID:0111143)", "pathway": " (hsa:518); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 68, "publication_id_list": "17121862;17308301;17510655;17624330;18323778;18991276;20833715;20877624;21836051;22114354;22252321;22864911;23481700;24098383;24687277;24715725;25285856;25576301;25764979;25781180;25997101;26154972;26416881;26477565;26530328;26811146;26968360;26992070;27479602;27485409;27623147;27846572;28289229;28832583;28904123;29242379;29437277;29493099;29557506;30530489;31844290;32157095;32350084;32502341;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;34211107;34357683;34561969;34636445;34932366;34954817;35051231;35083852;35251023;36010968;36215666;36241641;37938771;4517936;7698763", "class_list": "", "function": "ATP5G1, ATP5G2, and ATP5G3 of the ATP synthase are not involved in forming the permeability transition pore., [RefSeq, PubMed]; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4Z0;D3DPF0;Q4ZFX7", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex;GO:0033177 proton-transporting two-sector ATPase complex, proton-transporting domain", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "P48201-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51164-1", "uniprot_id": [ { "id": "ATP4B_HUMAN", "url": "https://www.uniprot.org/uniprot/P51164", "type": "external" } ], "mass": 33367.0, "length": 291, "protein_name": "Potassium-transporting ATPase subunit beta", "gene_name": "ATP4B", "organism": "Human", "refseq_name": "potassium-transporting ATPase subunit beta", "refseq_ac": [ { "id": "NP_000696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000696", "type": "external" } ], "gene_names_uniprotkb": "ATP4B", "gene_names_refseq": "ATP4B; ATP6B", "protein_names_uniprotkb": "Potassium-transporting ATPase subunit beta; Gastric H(+)/K(+) ATPase subunit beta; Proton pump beta chain", "protein_names_refseq": "ATPase H+/K+ transporting beta subunit; ATPase, H+/K+ exchanging, beta polypeptide; ATPase, H+/K+ transporting, beta polypeptide; gastric H(+)/K(+) ATPase subunit beta; gastric H+/K+ ATPase beta subunit; gastric hydrogen-potassium ATPase, beta; potassium-transporting ATPase beta chain; potassium-transporting ATPase subunit beta; proton pump beta chain", "tax_id": 9606, "disease": "autoimmune gastritis (Disease Ontology:DOID:0040090); stomach cancer (Disease Ontology:DOID:10534); epilepsy (Disease Ontology:DOID:1826); atrophic gastritis (Disease Ontology:DOID:8929); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:496); (R-HSA-936837)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10401004;10484781;10615129;10767338;15831496;15919184;15925480;16182249;1656976;16700898;18723824;18787507;19345671;19694409;19878721;2160952;22186024;23196729;23317218;24392018;24700195;27067231;29557506;35051231;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043;9315713", "class_list": "", "function": "Downregulation of ATP4B gene is associated with gastric cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The beta subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells. Plays a structural and regulatory role in the assembly and membrane targeting of a functionally active pump (By similarity). Within a transport cycle, the transfer of a H(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation of the alpha subunit that shifts the pump conformation from inward-facing (E1) to outward-facing state (E2). Interacts with the phosphorylation domain of the alpha subunit and functions as a ratchet, stabilizing the lumenal-open E2 conformation and preventing the reverse reaction of the transport cycle (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and a smaller but heavily glycosylated beta subunit. This enzyme is a proton pump that catalyzes the hydrolysis of ATP coupled with the exchange of H(+) and K(+) ions across the plasma membrane. It is also responsible for gastric acid secretion. This gene encodes the beta subunit of the gastric H+, K+-ATPase. [provided by RefSeq, Jul 2008]., [RefSeq]; These findings demonstrated that a decrease in pHi, caused by H+/K+-ATPase inhibition induced by BMT-1, triggered the dysfunction of the mitochondria resulting in the apoptosis of MM cells, [RefSeq, PubMed]; Use of fold recognition methods enables the prediction that a C-terminal domain of the beta subunits of Na,K-ATPase and H,K-ATPase has an immunoglobulin-like fold, which resembles cell adhesion molecules., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B1B0N8", "ec_number_list": [], "go_molecular_function": "GO:0001671 ATPase activator activity;GO:0008900 P-type potassium:proton transporter activity;GO:1901363 heterocyclic compound binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0005890 sodium:potassium-exchanging ATPase complex", "go_biological_process": "GO:0007155 cell adhesion;GO:0032496 response to lipopolysaccharide;GO:0006883 intracellular sodium ion homeostasis;GO:0030007 intracellular potassium ion homeostasis;GO:0036376 sodium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "P51164-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54259-1", "uniprot_id": [ { "id": "ATN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P54259", "type": "external" } ], "mass": 125414.0, "length": 1190, "protein_name": "Atrophin-1", "gene_name": "ATN1", "organism": "Human", "refseq_name": "atrophin-1 isoform 1", "refseq_ac": [ { "id": "NP_001007027", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007027", "type": "external" } ], "gene_names_uniprotkb": "ATN1; D12S755E; DRPLA", "gene_names_refseq": "ATN1; B37; CHEDDA; D12S755E; DRPLA; HRS; NOD", "protein_names_uniprotkb": "Atrophin-1; Dentatorubral-pallidoluysian atrophy protein", "protein_names_refseq": "atrophin-1 isoform 1; dentatorubral-pallidoluysian atrophy protein", "tax_id": 9606, "disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787); colorectal adenoma (Disease Ontology:DOID:0050860); pre-malignant neoplasm (Disease Ontology:DOID:0060071); dentatorubral-pallidoluysian atrophy (Disease Ontology:DOID:0060162); colorectal carcinoma (Disease Ontology:DOID:0080199); metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome (Disease Ontology:DOID:0111543); intestinal cancer (Disease Ontology:DOID:10155); urinary bladder cancer (Disease Ontology:DOID:11054); osteogenesis imperfecta (Disease Ontology:DOID:12347); hereditary hemorrhagic telangiectasia (Disease Ontology:DOID:1270); prostatitis (Disease Ontology:DOID:14654); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); ovarian cancer (Disease Ontology:DOID:2394); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); gastrointestinal system cancer (Disease Ontology:DOID:3119); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); pulmonary fibrosis (Disease Ontology:DOID:3770); Lynch syndrome (Disease Ontology:DOID:3883); cervical cancer (Disease Ontology:DOID:4362); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); aortic disease (Disease Ontology:DOID:520); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic myeloid leukemia (Disease Ontology:DOID:8552); prostate carcinoma in situ (Disease Ontology:DOID:8634); type 2 diabetes mellitus (Disease Ontology:DOID:9352); congenital hypotonia, epilepsy, developmental delay, and digital anomalies (MONDO:MONDO:0032781)", "pathway": " (hsa:1822); (R-HSA-8943724)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10085113;10332026;10814707;10973986;11378386;11545734;11781575;11959846;12464607;12812981;15302935;16418168;16676006;16702404;17081983;17873065;17974977;18172008;18391013;18452278;18487508;18669648;19131340;19440552;19608861;19651622;19664995;19884659;20068231;20233713;20305658;20410308;20516213;20977674;21289308;21406692;22128185;23186163;23287862;24275569;24715725;24718924;25728608;26154972;26910647;26992070;27397612;27846572;27862975;28411811;29493099;29557506;30059200;30429286;30827498;31154438;31217245;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33214551;33298915;33592498;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34509645;34932366;35051231;35138101;35254053;35580925;36010968;36215666;36241641;36284347;36809552;37938771;38665916;39302247;39534244;40136647;7485154;7842016;7951323;8136840;8852663;8965642;9074930;9361003;9647693", "class_list": "", "function": "Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy. Review article, [RefSeq, PubMed]; Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcriptional corepressor. Recruits NR2E1 to repress transcription. Promotes vascular smooth cell (VSMC) migration and orientation (By similarity). Corepressor of MTG8 transcriptional repression. Has some intrinsic repression activity which is independent of the number of poly-Gln (polyQ) repeats., [UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 31, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 35, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q99495;Q99621;Q9UEK7", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0019904 protein domain specific binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0016363 nuclear matrix", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0016477 cell migration;GO:0051402 neuron apoptotic process;GO:0007417 central nervous system development", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P54259-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56385-1", "uniprot_id": [ { "id": "ATP5I_HUMAN", "url": "https://www.uniprot.org/uniprot/P56385", "type": "external" } ], "mass": 7933.0, "length": 69, "protein_name": "ATP synthase F(0) complex subunit e, mitochondrial", "gene_name": "ATP5ME", "organism": "Human", "refseq_name": "ATP synthase F(0) complex subunit e, mitochondrial", "refseq_ac": [ { "id": "NP_009031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009031", "type": "external" } ], "gene_names_uniprotkb": "ATP5ME; ATP5I; ATP5K", "gene_names_refseq": "ATP5I; ATP5K; ATP5ME", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit e, mitochondrial; ATP synthase membrane subunit e; ATPase subunit e", "protein_names_refseq": "ATP synthase F(0) complex subunit e, mitochondrial; ATP synthase e chain, mitochondrial; ATP synthase subunit e, mitochondrial; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E; ATP synthase, H+ transporting, mitochondrial Fo complex subunit E; ATPase subunit e; F1F0-ATP synthase, murine e subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:521); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "17121862;17510655;17624330;17975675;18323778;19531498;19892738;20833715;20877624;21654843;21836051;22114354;22252321;22864911;23739916;24098383;24687277;25285856;25418920;25502872;25576301;25764979;25781180;25810538;25892735;25997101;26416881;26477565;26530328;26968360;26992070;27452731;27479602;27485409;27623147;28063628;28228285;28467828;28832583;28904123;29393594;29508533;29557506;29632046;29632711;29769354;29789417;30192525;30315122;30379171;31154438;31217245;31530632;31611695;31844290;31848261;32157095;32265295;32387766;32488085;32938616;32983136;33043033;33141586;33392160;33592498;33968037;33981976;34357683;34932366;35154160;35580925;36215666;36241641;36284347;37244256;38665916;40596516;4517936", "class_list": "", "function": "Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Subunit e, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain (PubMed:37244256). ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel (PubMed:37244256). These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk (PubMed:37244256). During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation (Probable). In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro (By similarity). Part of the complex F(0) domain (PubMed:37244256)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q0D2L9", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P56385-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q06055-1", "uniprot_id": [ { "id": "AT5G2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q06055", "type": "external" } ], "mass": 14637.0, "length": 141, "protein_name": "ATP synthase F(0) complex subunit C2, mitochondrial", "gene_name": "ATP5MC2", "organism": "Human", "refseq_name": "ATP synthase F(0) complex subunit C2, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_001002031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002031", "type": "external" } ], "gene_names_uniprotkb": "ATP5MC2; ATP5G2; PSEC0033", "gene_names_refseq": "ATP5A; ATP5G2; ATP5MC2", "protein_names_uniprotkb": "ATP synthase F(0) complex subunit C2, mitochondrial; ATP synthase lipid-binding protein; ATP synthase membrane subunit c locus 2; ATP synthase proteolipid P2; ATP synthase proton-transporting mitochondrial F(0) complex subunit C2; ATPase protein 9; ATPase subunit c", "protein_names_refseq": "ATP synthase F(0) complex subunit C2, mitochondrial isoform a precursor; ATP synthase F(0) complex subunit C2, mitochondrial; ATP synthase c subunit; ATP synthase lipid-binding protein, mitochondrial; ATP synthase proteolipid P2; ATP synthase proton-transporting mitochondrial F(0) complex subunit C2; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9); ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9); ATPase protein 9; ATPase subunit C; dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit", "tax_id": 9606, "disease": "early-onset dystonia and/or spastic paraplegia (Disease Ontology:DOID:0070445); mitochondrial complex V (ATP synthase) deficiency (Disease Ontology:DOID:0111143); urinary bladder cancer (Disease Ontology:DOID:11054); renal cell carcinoma (Disease Ontology:DOID:4450); clear cell renal cell carcinoma (Disease Ontology:DOID:4467)", "pathway": " (hsa:517); (R-HSA-163210); (R-HSA-8949613)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "11237011;16303743;17121862;17510655;17624330;18323778;20833715;21836051;22114354;22252321;22864911;23481700;24098383;24687277;24715725;25285856;25469497;25502872;25576301;25645385;25764979;25781180;25997101;26154972;26375851;26416881;26477565;26530328;26968360;26992070;27479602;27485409;27600516;27623147;27846572;27862975;27920218;28218747;28228285;28289229;28832583;28834231;2883974;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30192525;30315122;30410026;30429286;30530489;30573663;31154438;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32502341;32938616;32983136;33141586;33298915;33717175;33912179;33936100;34087483;34171305;34211107;34357683;34433824;34932366;35051231;35318648;35580925;36284347;37217939;37938771;4517936;8328972;8485160", "class_list": "", "function": "ATP5G1, ATP5G2, and ATP5G3 of the ATP synthase are not involved in forming the permeability transition pore., [RefSeq, PubMed]; Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element., [UniProtKB]; This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQQ6", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0015078 proton transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045259 proton-transporting ATP synthase complex;GO:0033177 proton-transporting two-sector ATPase complex, proton-transporting domain", "go_biological_process": "GO:0015986 proton motive force-driven ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q06055-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13733-1", "uniprot_id": [ { "id": "AT1A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13733", "type": "external" } ], "mass": 114166.0, "length": 1029, "protein_name": "Sodium/potassium-transporting ATPase subunit alpha-4", "gene_name": "ATP1A4", "organism": "Human", "refseq_name": "sodium/potassium-transporting ATPase subunit alpha-4 isoform 2", "refseq_ac": [ { "id": "NP_001001734", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001734", "type": "external" } ], "gene_names_uniprotkb": "ATP1A4; ATP1AL2", "gene_names_refseq": "ATP1A4; ATP1AL2", "protein_names_uniprotkb": "Sodium/potassium-transporting ATPase subunit alpha-4; 7.2.2.13; Na(+)/K(+) ATPase alpha-4 subunit; Sodium pump subunit alpha-4", "protein_names_refseq": "ATPase, Na+/K+ transporting, alpha 4 polypeptide; ATPase, Na+/K+ transporting, alpha polypeptide-like 2; Na(+)/K(+) ATPase alpha-4 subunit; Na+/K+ ATPase 4; Na+/K+ ATPase, alpha-D polypeptide; Na,K-ATPase subunit alpha-C; sodium pump 4; sodium pump subunit alpha-4; sodium-potassium ATPase catalytic subunit alpha-4; sodium/potassium-transporting ATPase alpha-4 chain; sodium/potassium-transporting ATPase subunit alpha-4 isoform 2; sodium/potassium-transporting ATPase subunit alpha-4", "tax_id": 9606, "disease": "familial hemiplegic migraine (Disease Ontology:DOID:0060178); Charcot-Marie-Tooth disease type 2DD (Disease Ontology:DOID:0111558); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826); nervous system disease (Disease Ontology:DOID:863)", "pathway": " (hsa:480); (R-HSA-5578775); (R-HSA-936837); (R-HSA-9679191)", "pathway_count": 4, "publication_count": 118, "publication_id_list": "10087012;10220561;10401004;10484781;10615129;10767338;10913253;11062458;11237011;11904675;12119109;12832055;12953268;15174025;15260953;15598648;15754088;15831496;15919184;15925480;16115318;16175638;16182249;16522641;1656976;16700898;16754674;16861705;16894555;1693919;17224452;17357072;17486119;17662961;18723824;18995841;19278978;19345671;19751721;19878721;20068231;20223979;20388710;21108950;2160952;22186024;22210847;2226863;22401777;22427649;22552008;22707725;22814904;22972900;23196729;23362265;23481700;23549614;23610579;23641311;24272870;2430951;24392018;24584101;2477373;25502872;2559024;25640246;25801024;25994790;26002965;27067231;27452731;27920218;28218747;28228285;2838329;28425720;28645727;28832583;29242379;29493099;2953725;29557506;29632711;29769354;29945920;30201761;30315122;31048504;32387766;32488085;33298915;33592498;33633747;33912179;33968037;34087483;34171305;34433824;35051231;36215666;39596464;6328127;6832622;7626145;7702581;7809153;7929371;8045293;8298639;8490646;8490659;8798450;8918259;9147644;9307043;9346285", "class_list": "", "function": "Human ATP1A4 enhances mouse sperm motility and hyperactivity during capacitation., [RefSeq, PubMed]; Sperm-specific catalytic alpha subunit of the Na(+)/K(+)-ATPase responsible for ATP-dependent Na(+)/K(+) exchange across the plasma membrane. Transports 3 Na(+) ions out of the cell and 2 K(+) ions into the cell for each ATP hydrolyze (PubMed:16861705). Plays an essential for sperm motility, capacitation, and male fertility by maintaining ionic gradients required for flagellar function and signaling (By similarity)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 4 subunit. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; These results constitute the first demonstration of the transcriptional control of ATP1A4 gene expression by cAMP and by CREMtau, a transcription factor essential for male germ cell gene expression., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q504T2;Q7Z4I9;Q8TBN8;Q8WXA7;Q8WXH7;Q8WY13", "ec_number_list": [ { "id": "7.2.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.13", "type": "external" }, { "id": "7.2.2.19", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.19", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0019900 kinase binding;GO:0005391 P-type sodium:potassium-exchanging transporter activity", "go_cellular_component": "GO:0097733 photoreceptor cell cilium;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0042995 cell projection;GO:0005890 sodium:potassium-exchanging ATPase complex", "go_biological_process": "GO:0006811 monoatomic ion transport;GO:0007166 cell surface receptor signaling pathway;GO:0030317 flagellated sperm motility;GO:0006883 intracellular sodium ion homeostasis;GO:0006813 potassium ion transport", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q13733-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3ZCQ2-1", "uniprot_id": [ { "id": "AX2R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3ZCQ2", "type": "external" } ], "mass": 21682.0, "length": 193, "protein_name": "Annexin-2 receptor", "gene_name": "ANXA2R", "organism": "Human", "refseq_name": "annexin-2 receptor", "refseq_ac": [ { "id": "NP_001014301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014301", "type": "external" } ], "gene_names_uniprotkb": "ANXA2R; AX2R; C5orf39", "gene_names_refseq": "ANXA2R; AX2R; AXIIR; C5orf39", "protein_names_uniprotkb": "Annexin-2 receptor; AXIIR; Annexin II receptor", "protein_names_refseq": "annexin II receptor; annexin-2 receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:389289)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10359570;16895901;18636554;22223826;23640736;25633185;27183438;29485866;29694949", "class_list": "", "function": "AXIIR acts as a novel inducer of apoptosis in human cells, partially through activating Caspase-8., [RefSeq, PubMed]; Analysis of the annexin II receptor on human marrow stromal cells, [RefSeq, PubMed]; Annexin II and its receptor axis play a central role in prostate cancer metastasis, and prostate cancer utilizes the hematopoietic stem cell homing mechanisms to gain access to the niche., [RefSeq, PubMed]; Data highlighted the crucial role of AXIIR in reducing Mum2C cell viability through inducing apoptosis, while autophagy played a protective role in this process., [RefSeq, PubMed]; May act as a receptor for annexin II on marrow stromal cells to induce osteoclast formation., [UniProtKB]; Overexpression of AX2R significantly inhibited cell proliferation, migration and tube formation in both types of endothelial cells and increased the expression of KLF2, mediating VEGF and VEGFR2., [RefSeq, PubMed]; Results show that AXII and AXIIR play important roles in multiple myeloma (MM) and that targeting the AXII/AXIIR axis may be a novel therapeutic approach for MM., [RefSeq, PubMed]; These subsequent effects might be via suppressing the expression of matrix metalloproteinase 2 and matrix metalloproteinase 9. ... AXIIR participates in angiogenesis, and may be a potential therapeutic target for angiogenesis related diseases, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NHX5", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q3ZCQ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H9R4-1", "uniprot_id": [ { "id": "ARMX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H9R4", "type": "external" } ], "mass": 235964.0, "length": 2290, "protein_name": "Armadillo repeat-containing X-linked protein 4", "gene_name": "ARMCX4", "organism": "Human", "refseq_name": "armadillo repeat-containing X-linked protein 4", "refseq_ac": [ { "id": "NP_001243084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243084", "type": "external" } ], "gene_names_uniprotkb": "ARMCX4", "gene_names_refseq": "ARMCX4; CXorf35; GASP4", "protein_names_uniprotkb": "Armadillo repeat-containing X-linked protein 4", "protein_names_refseq": "armadillo repeat containing, X-linked 4 pseudogene; armadillo repeat-containing X-linked protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:100131755)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;28657654;29557506;30315122;31844290;32157095;33592498;35051231;35580925", "class_list": "", "function": "The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K928;B3KXA4;F8W8Y7;Q5H9K8;Q8N8D6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5H9R4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T2S8-1", "uniprot_id": [ { "id": "ODAD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T2S8", "type": "external" } ], "mass": 115679.0, "length": 1044, "protein_name": "Outer dynein arm-docking complex subunit 2", "gene_name": "ODAD2", "organism": "Human", "refseq_name": "outer dynein arm-docking complex subunit 2 isoform 1", "refseq_ac": [ { "id": "NP_001276949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276949", "type": "external" } ], "gene_names_uniprotkb": "ODAD2; ARMC4", "gene_names_refseq": "ARMC4; CILD23; ODAD2; gudu", "protein_names_uniprotkb": "Outer dynein arm-docking complex subunit 2; Armadillo repeat-containing protein 4", "protein_names_refseq": "armadillo repeat containing 4; armadillo repeat-containing protein 4; outer dynein arm-docking complex subunit 2 isoform 1; testis tissue sperm-binding protein Li 74n", "tax_id": 9606, "disease": "Kartagener syndrome (Disease Ontology:DOID:0050144); visceral heterotaxy (Disease Ontology:DOID:0050545); primary ciliary dyskinesia 23 (Disease Ontology:DOID:0110609)", "pathway": " (hsa:55130)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11230166;11237011;23849778;24129315;24203976;25186273;25576301;27486780;29351928;29557506;31844290;32161166;32938616;33968037;33981976;35051231;35580925;36010968", "class_list": "", "function": "ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry., [RefSeq, PubMed]; Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm., [RefSeq, PubMed]; Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule (PubMed:27486780). Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (PubMed:23849778)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene contains ten Armadillo repeat motifs (ARMs) and one HEAT repeat, and is thought to be involved in ciliary and flagellar movement. This protein has been shown to localize to the ciliary axonemes and at the ciliary base of respiratory cells. Studies indicate that mutations in this gene cause partial outer dynein arm (ODA) defects in respiratory cilia. The cilia of cells with mutations in this gene displayed either reduced ciliary beat frequency and amplitude, or, complete immotility. Some individuals with primary ciliary dyskensia (PCD) have been shown to have mutations in this gene. PCD is characterized by chronic airway disease and left/right body asymmetry defects. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K906;B7Z7I1;Q9H0C0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0005930 axoneme;GO:0097546 ciliary base", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007368 determination of left/right symmetry;GO:0003341 cilium movement;GO:0003356 regulation of cilium beat frequency;GO:0036158 outer dynein arm assembly", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q5T2S8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T9G4-1", "uniprot_id": [ { "id": "ARM12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T9G4", "type": "external" } ], "mass": 38632.0, "length": 340, "protein_name": "Armadillo repeat-containing protein 12", "gene_name": "ARMC12", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 12 isoform b", "refseq_ac": [ { "id": "NP_001273503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273503", "type": "external" } ], "gene_names_uniprotkb": "ARMC12; C6orf81", "gene_names_refseq": "ARMC12; C6orf81; SPGF90", "protein_names_uniprotkb": "Armadillo repeat-containing protein 12", "protein_names_refseq": "armadillo repeat-containing protein 12 isoform b; armadillo repeat-containing protein 12", "tax_id": 9606, "disease": "spermatogenic failure 90 (Disease Ontology:DOID:0070589)", "pathway": " (hsa:221481)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;29557506;30026490;31844290;33392160;33536340;35534203;39894887", "class_list": "", "function": "ARMC12 promotes neuroblastoma progression through interaction with RBBP4. Publication Status: Online-Only, [RefSeq, PubMed]; ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility., [RefSeq, PubMed]; Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice., [RefSeq, PubMed]; Essential for male fertility and sperm mitochondrial sheath formation (By similarity). Required for proper mitochondrial elongation and coiling along the flagellum during the formation of the mitochondrial sheath (By similarity). Facilitates the growth and aggressiveness of neuroblastoma cells (PubMed:30026490). Increases the EZH2 activity and H3K27me3 levels in a RBBP4-dependent manner, and facilitates the enrichment of polycomb repressive complex 2 and H3K27me3 on gene promoters, resulting in transcriptional repression of tumor suppressors affecting the proliferation, invasion, and metastasis of tumor cells (PubMed:30026490)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NEB2;Q96LL8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0030307 positive regulation of cell growth;GO:0030317 flagellated sperm motility;GO:0120317 sperm mitochondrial sheath assembly", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5T9G4-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5W041-2", "uniprot_id": [ { "id": "ARMC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5W041", "type": "external" } ], "mass": 96405.0, "length": 872, "protein_name": "Armadillo repeat-containing protein 3", "gene_name": "ARMC3", "organism": "Human", "refseq_name": "armadillo repeat-containing protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001269674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269674", "type": "external" } ], "gene_names_uniprotkb": "ARMC3", "gene_names_refseq": "ARMC3; CT81; KU-CT-1; VAC8", "protein_names_uniprotkb": "Armadillo repeat-containing protein 3; Beta-catenin-like protein; CT81; Cancer/testis antigen 81; KU-CT-1", "protein_names_refseq": "armadillo repeat-containing protein 3 isoform 2; armadillo repeat-containing protein 3; beta-catenin-like protein; cancer/testis antigen 81", "tax_id": 9606, "disease": "", "pathway": " (hsa:219681)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "16385451;16397042;16915934;26992070;29557506;29605689;33981976;34428398;36553564;39221575;39894887", "class_list": "", "function": "A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family., [RefSeq, PubMed]; ARMC3_v2 was detected in human skeletal muscle, liver, spleen and thymus; in contrast, ARMC3_v1 in skeletal muscle, lung, prostate and testis, [RefSeq, PubMed]; Armadillo/beta-catenin (CTNNB1; MIM 116806)-like (ARM) domains are imperfect 45-amino acid repeats involved in protein-protein interactions. ARM domain-containing proteins, such as ARMC3, function in signal transduction, development, cell adhesion and mobility, and tumor initiation and metastasis (Li et al., 2006 [PubMed 16915934]).[supplied by OMIM, Mar 2008]., [RefSeq]; Essential for male fertility and sperm motility (By similarity). During spermatogenesis, promotes the autophagic degradation of excessive ribosomes, providing energy resources for mitochondria and thus ensuring sperm flagellar motility (PubMed:34428398)., [UniProtKB, PubMed, UniProtKB]; KU-CT-1 is a new cancer testis antigen that is expressed in pancreatic, lung, and endometrial cancers, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (ARMC3). Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0PG76;A6NH64;B4DZL3;B7ZBN6;B7ZBN7;Q8IXS5;Q8N7B0;Q96M49", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007286 spermatid development;GO:0034517 ribophagy", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5W041-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XD76-1", "uniprot_id": [ { "id": "ASCL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XD76", "type": "external" } ], "mass": 19253.0, "length": 172, "protein_name": "Achaete-scute homolog 4", "gene_name": "ASCL4", "organism": "Human", "refseq_name": "achaete-scute homolog 4", "refseq_ac": [ { "id": "NP_982260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_982260", "type": "external" } ], "gene_names_uniprotkb": "ASCL4; BHLHA44; HASH4", "gene_names_refseq": "ASCL4; ASH-4; HASH4; bHLHa44", "protein_names_uniprotkb": "Achaete-scute homolog 4; ASH-4; Achaete-scute-like protein 4; Class A basic helix-loop-helix protein 44; bHLHa44; hASH4", "protein_names_refseq": "achaete-scute complex homolog 4; achaete-scute complex-like 4; achaete-scute homolog 4; achaete-scute-like protein 4; class A basic helix-loop-helix protein 44; class II bHLH protein ASCL4", "tax_id": 9606, "disease": "", "pathway": " (hsa:121549)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "14516699;15475265;19166906;22549224;35051231", "class_list": "", "function": "Basic helix-loop-helix transcription factors, such as ASCL4, are essential for the determination of cell fate and the development and differentiation of numerous tissues (Jonsson et al., 2004 [PubMed 15475265]).[supplied by OMIM, Mar 2008]., [RefSeq]; Could be a transcriptional regulator involved in skin development., [UniProtKB, PubMed]; HASH4 is involved in skin development., [RefSeq, PubMed]; In neuron reduced levels of ACSL4 led to a significant reduction in dendritic spine density and an alteration in spine/filopodia distribution., [RefSeq, PubMed]; Intramitochondrial arachidonic acid and acyl-CoA synthetase 4 in angiotensin II-regulated aldosterone synthesis have roles in NCI-H295R adrenocortical cell line, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q7RTS2", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0060429 epithelium development;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0043588 skin development", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6XD76-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6G6-3", "uniprot_id": [ { "id": "ATL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6G6", "type": "external" } ], "mass": 193409.0, "length": 1762, "protein_name": "ADAMTS-like protein 1", "gene_name": "ADAMTSL1", "organism": "Human", "refseq_name": "ADAMTS-like protein 1 isoform 4 precursor", "refseq_ac": [ { "id": "NP_001035362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035362", "type": "external" } ], "gene_names_uniprotkb": "ADAMTSL1; ADAMTSR1; C9orf94; PRO1071", "gene_names_refseq": "ADAMTSL-1; ADAMTSL1; ADAMTSR1; C9orf94; PUNCTIN", "protein_names_uniprotkb": "ADAMTS-like protein 1; ADAMTSL-1; Punctin-1", "protein_names_refseq": "ADAM-TS related protein 1; ADAMTS-like protein 1 isoform 4 precursor; ADAMTS-like protein 1; punctin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:92949); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11067851;11805097;12975309;16464858;17395588;18720094;19671700;19796186;22588082;23584533;23889335;25544610;27726376;28722276;29158497;30429286;30459171;30714143;31217245;31844290;31848261;32157095;32387766;32938616;33592498;34087483;34171305;35051231", "class_list": "", "function": "ADAMTSL1 are associated with breast cancer prognosis and may involve an interaction with AREG expression. Publication Status: Online-Only, [RefSeq, PubMed]; Data define a critical role for N-glycosylation and O-fucosylation in the biosynthesis of punctin-1, [RefSeq, PubMed]; Punctin, a novel ADAMTS-like molecule, ADAMTSL-1, in extracellular matrix, [RefSeq, PubMed]; These data imply a multisystem role for ADAMTSL1 and present the first disease-associated variant affecting a C-mannosylation motif., [RefSeq, PubMed]; This explains why the patients with ADAMTSL1 mutations had abnormal mandibles but normal long bones. This is the first report that mutations in ADAMTSL1 are responsible for the pathogenesis of mandibular prognathism., [RefSeq, PubMed]; This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]., [RefSeq]; Thrombospondin type-1 repeats from punctin-1 carries C-mannosylation in close proximity to O-linked fucose, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 2, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 4, "reported_c_glycosites": 2, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 2, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 2, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 15, "total_c_glycosites": 2, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "A6PVN1;A8K7E1;Q496M6;Q496M8;Q5T708;Q5VZT8;Q8NAI9;Q96RW4;Q9BXY3", "ec_number_list": [], "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q8N6G6-3", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1110001001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCT1-1", "uniprot_id": [ { "id": "ARRD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCT1", "type": "external" } ], "mass": 45479.0, "length": 418, "protein_name": "Arrestin domain-containing protein 4", "gene_name": "ARRDC4", "organism": "Human", "refseq_name": "arrestin domain-containing protein 4", "refseq_ac": [ { "id": "NP_899232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_899232", "type": "external" } ], "gene_names_uniprotkb": "ARRDC4", "gene_names_refseq": "ARRDC4", "protein_names_uniprotkb": "Arrestin domain-containing protein 4", "protein_names_refseq": "arrestin domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:91947)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "18307387;19605364;21982743;23208550;23236378;25548167;25645385;26992070;27600516;27862975;28228285;28594402;28834231;29242379;29557506;29789417;30429286;30779550;31154438;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32938616;32983136;33123756;33592498;33936100;33968037;33981976;34171305;34405274;34509645;35051231;35251023;35494241;35580925;36010968;36284347;37938771;38528189", "class_list": "", "function": "Data highlight new function of ARRDC4 in innate immunity, contributing to the better understanding about regulation of MDA5 activation after EV71 infection, and also suggest ARRDC4 may serve as a potential target for intervention of EV71-induced inflammatory response. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an adapter recruiting ubiquitin-protein ligases to their specific substrates (By similarity). Plays a role in endocytosis of activated G protein-coupled receptors (GPCRs) (Probable). Through an ubiquitination-dependent mechanism also plays a role in the incorporation of SLC11A2 into extracellular vesicles (By similarity). May play a role in glucose uptake (PubMed:19605364). Participates in innate immune response by promoting IFIH1/MDA5 activation through interaction with TRIM65 (PubMed:28594402)., [UniProtKB, UniProtKB, PubMed, PubMed]; Identification of HDAC9 and ARRDC4 as potential biomarkers and targets for treatment of type 2 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of variants in the ARRDC4 coding region; seven variants were identified; fifteen haplotypes were inferred; haplotypes form two clades, [RefSeq, PubMed]; Txnip regulates cellular metabolism independent of its binding to thioredoxin and the arrestin domains are crucial structural elements in metabolic functions of alpha-arrestin proteins, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NSI9", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:1903561 extracellular vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0016567 protein ubiquitination;GO:0070534 protein K63-linked ubiquitination;GO:0051443 positive regulation of ubiquitin-protein transferase activity;GO:0032728 positive regulation of interferon-beta production", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8NCT1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE58-1", "uniprot_id": [ { "id": "ATS15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE58", "type": "external" } ], "mass": 103287.0, "length": 950, "protein_name": "A disintegrin and metalloproteinase with thrombospondin motifs 15", "gene_name": "ADAMTS15", "organism": "Human", "refseq_name": "A disintegrin and metalloproteinase with thrombospondin motifs 15 preproprotein", "refseq_ac": [ { "id": "NP_620686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620686", "type": "external" } ], "gene_names_uniprotkb": "ADAMTS15", "gene_names_refseq": "ADAMTS15; DA12", "protein_names_uniprotkb": "A disintegrin and metalloproteinase with thrombospondin motifs 15; 3.4.24.-; ADAM-TS 15; ADAM-TS15; ADAMTS-15", "protein_names_refseq": "A disintegrin and metalloproteinase with thrombospondin motifs 15 preproprotein; a disintegrin and metalloproteinase with thrombospondin motifs 15; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15, preproprotein; metalloprotease disintegrin 15 with thrombospondin domains", "tax_id": 9606, "disease": "distal arthrogryposis (Disease Ontology:DOID:0050646); arthrogryposis, distal, type 12 (MONDO:MONDO:0957819)", "pathway": " (hsa:170689); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10.1101/2023.09.13.557529;11067851;11867212;15599946;16152618;16464858;16959974;18720094;19458070;19796186;20590445;22588082;23090970;23889335;24190977;25544610;28005267;28323982;29557506;32354091;32983136;33968037;35051231;35962790;36215666", "class_list": "glycogene", "function": "ADAMTS-15 Has a Tumor Suppressor Role in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ADAMTS-15 but not ADAMTS-1 expression was downregulated by androgen in LNCaP prostate cancer cells, possibly through androgen response elements associated with the gene, [RefSeq, PubMed]; ADAMTS15 expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; ADAMTS15 may be target of inactivating mutations in human cancer., [RefSeq, PubMed]; ADAMTS4 and ADAMTS15 were upregulated in symptomatic uterine leiomyomas., [RefSeq, PubMed]; ADAMTS8 and ADAMTS15 have emerged as novel predictors of survival in patients with breast carcinoma, [RefSeq, PubMed]; Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Erratum:[Genet Med. 2023 May;25(5):100799. doi: 10.1016/j.gim.2023.100799. PMID: 36853234], [RefSeq, PubMed]; Metalloprotease which has proteolytic activity against the proteoglycan VCAN, cleaving it at the 'Glu-1428-|-1429-Ala' site. Cleaves VCAN in the pericellular matrix surrounding myoblasts, facilitating myoblast contact and fusion which is required for skeletal muscle development and regeneration., [UniProtKB, UniProtKB]; Negative effect of TGFbeta1 on ADAMTS-1, -5, -9, and -15 coupled with increases in their inhibitor, TIMP-3 may aid the accumulation of versican in the stromal compartment of the prostate in BPH and prostate cancer, [RefSeq, PubMed]; This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme, which may play a role in versican processing during skeletal muscle development. This gene may function as a tumor suppressor in colorectal and breast cancers. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1285, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q32MI6", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0008201 heparin binding;GO:0008270 zinc ion binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:0007520 myoblast fusion", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8TE58-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000011000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWX0-1", "uniprot_id": [ { "id": "ASB5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWX0", "type": "external" } ], "mass": 36341.0, "length": 329, "protein_name": "Ankyrin repeat and SOCS box protein 5", "gene_name": "ASB5", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 5 isoform 1", "refseq_ac": [ { "id": "NP_543150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543150", "type": "external" } ], "gene_names_uniprotkb": "ASB5", "gene_names_refseq": "ASB-5; ASB5", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 5; ASB-5", "protein_names_refseq": "SOCS box protein ASB-5; ankyrin repeat and SOCS box protein 5 isoform 1; ankyrin repeat and SOCS box protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:140458); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25531226;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28228285;29153394;29557506;30610225;32005965;32284348;33141586;33444648;36284347;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. May play a role in the initiation of arteriogenesis (By similarity)., [UniProtKB]; The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but their full length sequences are not known. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N7B5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination;GO:0045732 positive regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q8WWX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BY7-1", "uniprot_id": [ { "id": "ATG2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BY7", "type": "external" } ], "mass": 232763.0, "length": 2078, "protein_name": "Autophagy-related protein 2 homolog B", "gene_name": "ATG2B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ATG2B; C14orf103", "gene_names_refseq": "", "protein_names_uniprotkb": "Autophagy-related protein 2 homolog B", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:55102)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "18669648;18691976;19413330;19651622;22028470;22219374;23186163;23301498;24275569;24715725;25418920;25505266;25892735;27846572;27862975;28218747;28228285;28657654;28820312;28832583;28855257;28904123;29242379;29493099;29557506;29769354;29786170;30315122;30379171;30429286;30833945;31217245;31222486;31721365;31844290;32265295;32350084;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34211107;34509645;34561969;35051231;35561310;35580925;36010968;36215666;36284347;37938771", "class_list": "", "function": "Lipid transfer protein required for both autophagosome formation and regulation of lipid droplet morphology and dispersion (PubMed:22219374, PubMed:31721365). Tethers the edge of the isolation membrane (IM) to the endoplasmic reticulum (ER) and mediates direct lipid transfer from ER to IM for IM expansion (PubMed:22219374, PubMed:31721365). Binds to the ER exit site (ERES), which is the membrane source for autophagosome formation, and extracts phospholipids from the membrane source and transfers them to ATG9 (ATG9A or ATG9B) to the IM for membrane expansion (By similarity). Lipid transfer activity is enhanced by WDR45/WIPI4, which promotes ATG2B-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes (PubMed:31721365)., [UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZRE7;Q96DQ3;Q9NW80", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0043495 protein-membrane adaptor activity;GO:0032266 phosphatidylinositol-3-phosphate binding;GO:0120013 lipid transfer activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane;GO:0034045 phagophore assembly site membrane;GO:0000407 phagophore assembly site", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0000422 autophagy of mitochondrion;GO:0034727 piecemeal microautophagy of the nucleus;GO:0061709 reticulophagy;GO:0061723 glycophagy", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96BY7-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DX5-1", "uniprot_id": [ { "id": "ASB9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DX5", "type": "external" } ], "mass": 31858.0, "length": 294, "protein_name": "Ankyrin repeat and SOCS box protein 9", "gene_name": "ASB9", "organism": "Human", "refseq_name": "ankyrin repeat and SOCS box protein 9 isoform 1", "refseq_ac": [ { "id": "NP_001026909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026909", "type": "external" } ], "gene_names_uniprotkb": "ASB9", "gene_names_refseq": "ASB9", "protein_names_uniprotkb": "Ankyrin repeat and SOCS box protein 9; ASB-9", "protein_names_refseq": "ASB-9; ankyrin repeat and SOCS box protein 9 isoform 1; ankyrin repeat and SOCS box protein 9; ankyrin repeat and suppressor of cytokine signaling box protein 9; testis tissue sperm-binding protein Li 57p", "tax_id": 9606, "disease": "", "pathway": " (hsa:140462); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 147, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14757770;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18662542;18680464;18775313;18776931;18805092;18826954;18851830;18926707;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;20302626;21447816;21463634;21778237;21863050;21940857;22306028;22418839;22466964;22537386;2261476;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23837592;23912815;23986495;24076655;24275569;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25654263;26344709;26460955;26632597;26906416;27030794;27222660;27565346;27920218;28115426;28218747;28904123;29153394;29242379;29437277;30315122;30410026;30610225;32005965;32157095;32284348;32513959;33268465;33444648;34357683;36683111;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Does not interact with the Elongin BC complex, likely to be a negative regulator of isoform 1., [UniProtKB, PubMed]; Substrate-recognition component of a cullin-5-RING E3 ubiquitin-protein ligase complex (ECS complex, also named CRL5 complex), which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:25654263, PubMed:33268465). The ECS(ASB9) complex catalyzes ubiquitination of creatine kinases CKB and CKMT1A (PubMed:20302626, PubMed:22418839, PubMed:25654263, PubMed:33268465)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The splice variant of hASB9, hASB9-2 protein, was cloned, overexpressed, and crystallized and the data showed that the cubic hASB9-2 crystal belongs to space group P4(3)32 with unit-cell parameters., [RefSeq, PubMed]; This gene encodes a member of the ankyrin repeat and suppressor of cytokine signaling (SOCS) box protein family. Members of this family can interact with the elongin B-C adapter complex via their SOCS box domain and further complex with the cullin and ring box proteins to form E3 ubiquitin ligase complexes. They may function to mediate the substrate-recognition of the E3 ubiquitin ligases. A transcribed pseudogene of this gene has been identified on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]., [RefSeq]; Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8A5;Q9BVF5;Q9NWS5;Q9Y4T3", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination;GO:0045732 positive regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q96DX5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KC2-1", "uniprot_id": [ { "id": "ARL5B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KC2", "type": "external" } ], "mass": 20375.0, "length": 179, "protein_name": "ADP-ribosylation factor-like protein 5B", "gene_name": "ARL5B", "organism": "Human", "refseq_name": "ADP-ribosylation factor-like protein 5B", "refseq_ac": [ { "id": "NP_848930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848930", "type": "external" } ], "gene_names_uniprotkb": "ARL5B; ARL8", "gene_names_refseq": "ARL5B; ARL8", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 5B; ADP-ribosylation factor-like protein 8", "protein_names_refseq": "ADP ribosylation factor like GTPase 5B; ADP-ribosylation factor-like 5B; ADP-ribosylation factor-like 8; ADP-ribosylation factor-like protein 5B; ADP-ribosylation factor-like protein 8; ADP-ribosylation-like factor 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:221079)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "12853149;16385451;20932310;25576301;27600516;27846572;27920218;28832583;29331515;29786170;30315122;31530632;31844290;32157095;32502341;32938616;32983136;33419459;33717175;33968037;34171305;34357683;34798070;35051231;35251023;35546774;35789482", "class_list": "", "function": "ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]., [RefSeq]; ARL8 contains six exons and five introns, and encodes a 179 amino acid protein that shares homology to the other ARL proteins., [RefSeq, PubMed]; Binding with heat shock cognate protein HSC70 fine-tunes the Golgi association of the small GTPase ARL5B., [RefSeq, PubMed]; Binds and exchanges GTP and GDP., [UniProtKB]; Interacting partners of Golgi-localized small G protein Arl5b identified by a combination of in vivo proximity labelling and GFP-Trap pull down., [RefSeq, PubMed]; Knockdown of ARL5B Induces Mitochondrial-mediated Apoptosis and Inhibits Glycolysis in Breast Cancer Cells by Activating MDA5 Signaling., [RefSeq, PubMed]; MiR-145 inhibits mitochondrial function of ovarian cancer by targeting ARL5B. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:1903292 protein localization to Golgi membrane", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q96KC2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q91-1", "uniprot_id": [ { "id": "B3A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q91", "type": "external" } ], "mass": 108248.0, "length": 983, "protein_name": "Anion exchange protein 4", "gene_name": "SLC4A9", "organism": "Human", "refseq_name": "anion exchange protein 4 isoform 3", "refseq_ac": [ { "id": "NP_001245355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245355", "type": "external" } ], "gene_names_uniprotkb": "SLC4A9; AE4; SBC5", "gene_names_refseq": "AE4; SLC4A9", "protein_names_uniprotkb": "Anion exchange protein 4; AE 4; Anion exchanger 4; Sodium bicarbonate cotransporter 5; Solute carrier family 4 member 9", "protein_names_refseq": "anion exchange protein 4 isoform 3; anion exchange protein 4; anion exchanger 4; sodium bicarbonate cotransporter 5; solute carrier family 4, sodium bicarbonate cotransporter, member 9", "tax_id": 9606, "disease": "anemia (Disease Ontology:DOID:2355)", "pathway": " (hsa:83697); (R-HSA-425381)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "10347222;10362779;10545938;10978526;11302728;11305939;11788353;18319254;24472682;2594752;27114614;29242379;29557506;3015590;31844290;32983136;35051231;7506871;7530501;7923606;8206915;9235899;9312167;9651366", "class_list": "", "function": "Electroneutral Cl(-)/HCO3(-) antiporter that favors chloride ion entry and efflux of hydrogencarbonate and sodium ion across the basolateral membrane and may participate in salivary secretion (PubMed:27114614). Also mediates Cl(-)/HCO3(-) exchange activity in the presence of K(+) as well as Cs(+), Li(+), and Rb(+) (By similarity). Does not contribute to Cl(-)/HCO3(-) exchanger in the apical membrane of the upper villous epithelium (By similarity)., [UniProtKB, UniProtKB, PubMed]; The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL63;D3DQD4;D3DQD5;D3DQD6;E9PDK1;Q96RM5;Q9BXF2;Q9BXN3", "ec_number_list": [], "go_molecular_function": "GO:0008510 sodium:bicarbonate symporter activity;GO:0140892 sodium,bicarbonate:chloride antiporter activity;GO:0140900 chloride:bicarbonate antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0045177 apical part of cell", "go_biological_process": "GO:0046541 saliva secretion;GO:0055085 transmembrane transport;GO:0035725 sodium ion transmembrane transport;GO:0015701 bicarbonate transport;GO:0051453 regulation of intracellular pH", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q96Q91-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NTI2-4", "uniprot_id": [ { "id": "AT8A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NTI2", "type": "external" } ], "mass": 133599.0, "length": 1188, "protein_name": "Phospholipid-transporting ATPase IB", "gene_name": "ATP8A2", "organism": "Human", "refseq_name": "phospholipid-transporting ATPase IB isoform 2", "refseq_ac": [ { "id": "NP_001300670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300670", "type": "external" } ], "gene_names_uniprotkb": "ATP8A2; ATPIB", "gene_names_refseq": "ATP8A2; ATPIB; ATP; CAMRQ4; IB; ML-1", "protein_names_uniprotkb": "Phospholipid-transporting ATPase IB; 7.6.2.1; ATPase class I type 8A member 2; ML-1; P4-ATPase flippase complex alpha subunit ATP8A2", "protein_names_refseq": "ATPase, aminophospholipid transporter, class I, type 8A, member 2; ATPase, aminophospholipid transporter-like, class I, type 8A, member 2; P4-ATPase flippase complex alpha subunit ATP8A2; phospholipid-transporting ATPase IB isoform 2; probable phospholipid-transporting ATPase IB", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (Disease Ontology:DOID:0050997); cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 (Disease Ontology:DOID:0070559)", "pathway": " (hsa:51761); (R-HSA-936837)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10401004;10484781;10551800;10615129;10767338;15831496;15919184;15925480;16182249;1656976;16700898;18669648;18723824;19345671;19664994;19778899;19878721;20068231;20683487;20947505;21454556;2160952;22186024;22892528;23196729;23481700;24392018;25576301;27067231;27679995;28063628;28832583;29242379;29393594;29508533;29531481;29786170;30012219;30315122;30379171;31154438;31397519;31844290;31848261;32502341;32938616;33141586;33298915;33392160;33717175;34211107;34403372;35051231;35494241;36241641;37678495;37938771;38436085;6832622;7626145;8045293;8298639;8490646;8490659;9147644;9307043", "class_list": "", "function": "CDC50A is the beta-subunit of ATP8A2 and is crucial for the correct folding, stable expression, export from endoplasmic reticulum, and phosphatidylserine flippase activity of ATP8A2, [RefSeq, PubMed]; Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids (By similarity). Able to translocate phosphatidylserine, but not phosphatidylcholine (PubMed:34403372). Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules (By similarity). Reconstituted to liposomes, the ATP8A2:TMEM30A flippase complex predominantly transports phosphatidylserine (PS) and to a lesser extent phosphatidylethanolamine (PE) (By similarity). Phospholipid translocation is not associated with a countertransport of an inorganic ion or other charged substrate from the cytoplasmic side toward the exoplasm in connection with the phosphorylation from ATP (By similarity). ATP8A2:TMEM30A may be involved in regulation of neurite outgrowth (By similarity). Proposed to function in the generation and maintenance of phospholipid asymmetry in photoreceptor disk membranes and neuronal axon membranes (By similarity). May be involved in vesicle trafficking in neuronal cells (By similarity). Required for normal visual and auditory function; involved in photoreceptor and inner ear spiral ganglion cell survival (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases., [RefSeq, PubMed]; On the track of the lipid transport pathway of the phospholipid flippase ATP8A2 - Mutation analysis of residues of the transmembrane segments M1, M2, M3 and M4. Review article, [RefSeq, PubMed]; P4-ATPase Atp8a2 is a phosphatidylserine flippase in photoreceptor disc membranes, [RefSeq, PubMed]; The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with a syndrome (CAMRQ4) characterized by cerebellar ataxia and cognitive disabilities. In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZSP3;Q9H527;Q9NPU6;Q9NTL2;Q9NYM3", "ec_number_list": [ { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0090555 phosphatidylethanolamine flippase activity;GO:0090556 phosphatidylserine floppase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0010008 endosome membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0010976 positive regulation of neuron projection development;GO:0042472 inner ear morphogenesis;GO:0045332 phospholipid translocation;GO:0010996 response to auditory stimulus", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9NTI2-4", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY37-1", "uniprot_id": [ { "id": "ASIC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY37", "type": "external" } ], "mass": 57464.0, "length": 505, "protein_name": "Bile acid-sensitive ion channel", "gene_name": "ASIC5", "organism": "Human", "refseq_name": "bile acid-sensitive ion channel", "refseq_ac": [ { "id": "NP_059115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059115", "type": "external" } ], "gene_names_uniprotkb": "ASIC5; ACCN5", "gene_names_refseq": "ACCN5; ASIC5; BASIC; HINAC; INAC", "protein_names_uniprotkb": "Bile acid-sensitive ion channel; Acid-sensing ion channel subunit family member 5; Amiloride-sensitive cation channel 5, intestinal; BASIC; HINaC; Human intestine Na(+) channel", "protein_names_refseq": "acid sensing (proton gated) ion channel family member 5; acid sensing ion channel family member 5; acid-sensing ion channel 5; amiloride-sensitive cation channel 5, intestinal; amiloride-sensitive sodium channel; bile acid-sensitive ion channel; human intestine Na(+) channel", "tax_id": 9606, "disease": "", "pathway": " (hsa:51802); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20305658;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22735174;22773952;22946059;2298749;23112050;2321095;23616951;23842738;2536303;26359375;26562072;28071645;28154142;28790369;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Forms bile acid-gated sodium channels and may play a role in bile acid-dependent absorption and secretion by epithelial cells of the bile ducts (PubMed:10767424, PubMed:22735174). Displays high selectivity for sodium ions but can also permit the permeation of other cations (Probable). The gating could be indirect and the consequence of alterations of the membrane environment of the channel by bile acids (By similarity). As a sodium channel of type II unipolar brush cells of the vestibulocerebellum, controlling the electrical activity of these cells, could play a role in motor coordination and balance (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; HBASIC shares further key features with its rat ortholog: it is blocked by extracellular divalent cations, is inhibited by micromolar concentrations of the diarylamidine diminazene, and activated by millimolar concentrations of flufenamic acid., [RefSeq, PubMed]; This gene belongs to the amiloride-sensitive Na+ channel and degenerin (NaC/DEG) family, members of which have been identified in many animal species ranging from the nematode to human. The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine, however, its exact function is not known. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015280 ligand-gated sodium channel activity;GO:0015252 proton channel activity;GO:0160228 bile acid-gated sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0019228 neuronal action potential;GO:0035725 sodium ion transmembrane transport;GO:0098719 sodium ion import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9NY37-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY97-1", "uniprot_id": [ { "id": "B3GN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY97", "type": "external" } ], "mass": 46022.0, "length": 397, "protein_name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2", "gene_name": "B3GNT2", "organism": "Human", "refseq_name": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2", "refseq_ac": [ { "id": "NP_001306004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306004", "type": "external" } ], "gene_names_uniprotkb": "B3GNT2; B3GALT7; B3GNT1", "gene_names_refseq": "3-Gn-T1; 3-Gn-T2; B3GN-T2; B3GNT-2; B3GNT1; B3GNT2; B3GNT; BETA3GNT; BGNT2; BGnT-2; beta-1; beta3Gn-T1; beta3Gn-T2", "protein_names_uniprotkb": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2; 2.4.1.149; BGnT-1; BGnT-2; Beta-1,3-GalTase 7; Beta-1,3-Gn-T1; Beta-1,3-Gn-T2; Beta-1,3-N-acetylglucosaminyltransferase 1; Beta-1,3-N-acetylglucosaminyltransferase 2; Beta-1,3-galactosyltransferase 7; Beta-3-Gx-T7; Beta3Gal-T7; Beta3GalT7; Beta3Gn-T1; Beta3Gn-T2; UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 7; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 7; b3Gal-T7", "protein_names_refseq": "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2; UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1; beta-1,3-N-acetylglucosaminyltransferase bGnT-1; beta-1,3-N-acetylglucosaminyltransferase bGnT-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10678); (R-HSA-2022854); (R-HSA-913709)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10206952;10330415;10430883;10491328;10504389;10580128;10753916;11030741;11042166;11042394;11283017;11304796;11588157;11821425;11901181;12042320;12218059;12855678;12855703;1329093;14759258;15104674;15486459;15560372;15620693;15737642;16115862;16335952;17021253;17113861;1714903;18537974;18826941;22183981;23090970;23481700;24190977;24643043;24714562;24715725;25279697;25418920;25576301;25645385;25813380;25880248;25892735;26154972;26728094;26811146;26992070;27600516;27920218;28063628;28218747;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29391424;29393594;29437277;29508533;29557506;29632046;29741879;29769354;30315122;30410026;30573663;30779550;30833945;31154438;31217245;31530632;31611695;31844290;31937595;32157095;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33158990;33229435;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34185709;34211107;34357683;34405274;34509645;34561969;34645591;35051231;35073841;35154160;35251023;35580925;36010968;37074911;37938771;38034954;7655172;8333853;8611500;8920913;9295285;9394011;9405439;9417100;9435216;9597550;9892646;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Beta3Gal-T5, controlled by the intestinal homeoproteins, may play an important role in the specific function of intestinal cells by modifying the carbohydrate structure of glycoproteins, [RefSeq, PubMed]; Comparison of human poly-N-acetyl-lactosamine synthase structure with GT-A fold glycosyltransferases supports a modular assembly of catalytic subsites., [RefSeq, PubMed]; Construction and investigation of beta3GNT2-associated regulatory network in esophageal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic effects of B3GNT2 on ankylosing spondylitis susceptibility and clinical manifestations in Taiwanese., [RefSeq, PubMed]; Structures and mechanism of human glycosyltransferase beta1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), an important player in immune homeostasis., [RefSeq, PubMed]; This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 6, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 412, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q54AC1;Q9NQQ9;Q9NQR0;Q9NUT9", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.147", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.147", "type": "external" }, { "id": "2.4.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.149", "type": "external" }, { "id": "2.4.1.206", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.206", "type": "external" }, { "id": "2.4.1.146", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.146", "type": "external" } ], "go_molecular_function": "GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0018146 keratan sulfate proteoglycan biosynthetic process;GO:0030311 poly-N-acetyllactosamine biosynthetic process", "synthesized_glycan_count": 1159, "hit_score": 16.8, "record_id": "Q9NY97-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100000000.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UN42-1", "uniprot_id": [ { "id": "AT1B4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UN42", "type": "external" } ], "mass": 41598.0, "length": 357, "protein_name": "Protein ATP1B4", "gene_name": "ATP1B4", "organism": "Human", "refseq_name": "protein ATP1B4 isoform A", "refseq_ac": [ { "id": "NP_001135919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135919", "type": "external" } ], "gene_names_uniprotkb": "ATP1B4", "gene_names_refseq": "ATP1B4", "protein_names_uniprotkb": "Protein ATP1B4; X,K-ATPase subunit beta-m; X/potassium-transporting ATPase subunit beta-m", "protein_names_refseq": "ATPase, Na+/K+ transporting, beta 4 polypeptide; BetaM; Na,K-ATPase beta m-subunit; X,K-ATPase beta-m subunit; protein ATP1B4 isoform A; protein ATP1B4; x/potassium-transporting ATPase subunit beta-m", "tax_id": 9606, "disease": "epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:23439); (R-HSA-2173795)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10197981;10199400;10456317;10485843;10531062;10535941;10549282;10587642;10587654;11389444;11427533;14656723;15820681;16156666;16430714;16751101;16751102;17438144;17510063;17591695;17592128;18568018;19135894;19917253;21095583;22045334;24420862;27153775;29577978", "class_list": "", "function": "May act as a transcriptional coregulator during muscle development through its interaction with SNW1. Has lost its ancestral function as a Na,K-ATPase beta-subunit., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian, and amphibian species, this gene encodes plasma membrane-bound beta-subunits of Na,K-ATPase. In placental mammals, the encoded protein interacts with the nuclear transcriptional coregulator SKIP and may be involved in the regulation of TGF-beta signaling. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; Variant in the coding region of the ATP1B4 gene may play little or no role in the development of PD in Chinese Han population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q17RR0;Q9UN41", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005886 plasma membrane;GO:0005637 nuclear inner membrane;GO:0005890 sodium:potassium-exchanging ATPase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0006813 potassium ion transport;GO:0006814 sodium ion transport", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9UN42-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0U1RR37-1", "uniprot_id": [ { "id": "CA232_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0U1RR37", "type": "external" } ], "mass": 20280.0, "length": 186, "protein_name": "Uncharacterized protein C1orf232", "gene_name": "C1orf232", "organism": "Human", "refseq_name": "uncharacterized protein C1orf232 isoform 1", "refseq_ac": [ { "id": "NP_001351598", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001351598", "type": "external" } ], "gene_names_uniprotkb": "C1orf232", "gene_names_refseq": "C1orf232", "protein_names_uniprotkb": "Uncharacterized protein C1orf232", "protein_names_refseq": "uncharacterized protein C1orf232 isoform 1; uncharacterized protein C1orf232", "tax_id": 9606, "disease": "", "pathway": " (hsa:110806296)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;34087483;35051231;35580925", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A0A0U1RR37-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60513-1", "uniprot_id": [ { "id": "B4GT4_HUMAN", "url": "https://www.uniprot.org/uniprot/O60513", "type": "external" } ], "mass": 40041.0, "length": 344, "protein_name": "Beta-1,4-galactosyltransferase 4", "gene_name": "B4GALT4", "organism": "Human", "refseq_name": "beta-1,4-galactosyltransferase 4", "refseq_ac": [ { "id": "NP_003769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003769", "type": "external" } ], "gene_names_uniprotkb": "B4GALT4; PRO1109", "gene_names_refseq": "B4GALT4; B4Gal-T4; beta4Gal-T4", "protein_names_uniprotkb": "Beta-1,4-galactosyltransferase 4; 2.4.1.-; 2.4.1.275; 2.4.1.90; Beta-1,4-GalTase 4; Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase; Beta4Gal-T4; Lactotriaosylceramide beta-1,4-galactosyltransferase; N-acetyllactosamine synthase; Nal synthase; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4; b4Gal-T4", "protein_names_refseq": "N-acetyllactosamine synthase; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4; UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase 4; UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4; beta-1,4-GalTase 4; beta-1,4-galactosyltransferase 4; beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase 4; lactotriaosylceramide beta-1,4-galactosyltransferase; nal synthase", "tax_id": 9606, "disease": "", "pathway": " (hsa:8702); (R-HSA-2022854); (R-HSA-975577)", "pathway_count": 3, "publication_count": 73, "publication_id_list": "10.1038/emboj.2013.79;10206952;10395745;10491328;10504389;10570912;10580128;10700233;10766765;11030741;11042166;11042394;11237011;11283017;11421344;11425186;11530204;11588157;11821425;11901181;12097641;12218059;12511560;12603328;12765789;12975309;15486459;15560372;15620693;15939404;16434023;16924681;17006639;17021253;1714903;17488527;17690104;18931531;19403558;20117844;23584533;25502872;25892735;28228616;28832583;29242379;29393594;30459171;31154438;31611695;31844290;32350084;32827291;33298915;33592498;33981976;34211107;34270095;34357683;34561969;35051231;35154160;35251023;35939855;38034954;8333853;8611500;8920913;9054414;9405439;9417100;9597550;9792633", "class_list": "glycogene;glycosyltransferase", "function": "Expression of the beta4GalT4 gene is controlled by Sp1, and Sp1 plays a key role in the activation of the beta4GalT4 gene in colon cancer cells., [RefSeq, PubMed]; Galactose (Gal) transferase involved in the synthesis of terminal N-acetyllactosamine (LacNac) unit present on glycan chains of glycoproteins and glycosphingolipids (PubMed:12511560, PubMed:17690104, PubMed:32827291, PubMed:9792633). Catalyzes the transfer of Gal residue via a beta1->4 linkage from UDP-Gal to the non-reducing terminal N-acetyl glucosamine 6-O-sulfate (6-O-sulfoGlcNAc) in the linearly growing chain of both N- and O-linked keratan sulfate proteoglycans. Cooperates with B3GNT7 N-acetyl glucosamine transferase and CHST6 and CHST1 sulfotransferases to construct and elongate mono- and disulfated disaccharide units [->3Galbeta1->4(6-sulfoGlcNAcbeta)1->] and [->3(6-sulfoGalbeta)1->4(6-sulfoGlcNAcbeta)1->] within keratan sulfate polymer (PubMed:17690104). Transfers Gal residue via a beta1->4 linkage to terminal 6-O-sulfoGlcNAc within the LacNac unit of core 2 O-glycans forming 6-sulfo-sialyl-Lewis X (sLex). May contribute to the generation of sLex epitope on mucin-type glycoproteins that serve as ligands for SELL/L-selectin, a major regulator of leukocyte migration (PubMed:12511560). In the biosynthesis pathway of neolacto-series glycosphingolipids, transfers Gal residue via a beta1->4 linkage to terminal GlcNAc of a lactotriaosylceramide (Lc3Cer) acceptor to form a neolactotetraosylceramide (PubMed:9792633). Efficiently galactosylates both non-sulfated and 6-O-sulfated terminal GlcNAc moities on G0 complex-type N-glycans., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; N-glycosylation of the human beta1,4-galactosyltransferase 4 is crucial for its activity and Golgi localization., [RefSeq, PubMed]; Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids., [UniProtKB, UniProtKB]; The critical role of B4GALT4 in promoting microtubule spindle assembly in HCC through the regulation of PLK1 and RHAMM expression., [RefSeq, PubMed]; This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 371, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q68D68;Q9BSW3;Q9C078", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.274", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.274", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" } ], "go_molecular_function": "GO:0008378 galactosyltransferase activity;GO:0046872 metal ion binding;GO:0003831 beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity;GO:0003945 N-acetyllactosamine synthase activity;GO:0035250 UDP-galactosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006643 membrane lipid metabolic process;GO:0018146 keratan sulfate proteoglycan biosynthetic process;GO:0001572 lactosylceramide biosynthetic process;GO:0009101 glycoprotein biosynthetic process", "synthesized_glycan_count": 2205, "hit_score": 8.0, "record_id": "O60513-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100000000.110.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07451-1", "uniprot_id": [ { "id": "CAH3_HUMAN", "url": "https://www.uniprot.org/uniprot/P07451", "type": "external" } ], "mass": 29557.0, "length": 260, "protein_name": "Carbonic anhydrase 3", "gene_name": "CA3", "organism": "Human", "refseq_name": "carbonic anhydrase 3", "refseq_ac": [ { "id": "NP_005172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005172", "type": "external" } ], "gene_names_uniprotkb": "CA3", "gene_names_refseq": "CA3; CAIII; Car3", "protein_names_uniprotkb": "Carbonic anhydrase 3; 4.2.1.1; CA-III; Carbonate dehydratase III; Carbonic anhydrase III", "protein_names_refseq": "CA-III; HEL-S-167mP; carbonate dehydratase III; carbonic anhydrase 3; carbonic anhydrase III, muscle specific; carbonic anhydrase IIII; epididymis secretory sperm binding protein Li 167mP", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); alcohol-associated liver disease (Disease Ontology:DOID:0070658); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); lesion of sciatic nerve (Disease Ontology:DOID:12528); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:761); (R-HSA-1475029)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10409679;11121027;11237011;11676494;120192;14611844;15501038;1554744;16006130;16042381;16302824;17228881;17427958;17499996;17761422;18162396;18294854;18618712;18703501;19186056;19206230;20349499;20493921;20578724;2111324;21282642;2169869;22001224;234739;25576301;26374642;28218747;2824285;29508533;29557506;29559661;3080418;3086182;3099285;31844290;32183030;32777521;33141586;35016406;4994926;6407977;6433979;6819139;7625839;8083199;8356065;8399223;9054574;9336012;9635771;9651514;9784398", "class_list": "", "function": "Carbonic Anhydrase III Promotes Cell Migration and Epithelial-Mesenchymal Transition in Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Carbonic anhydrase 2 and 3 as risk biomarkers for dilated cardiomyopathy associated heart failure., [RefSeq, PubMed]; Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. [provided by RefSeq, Oct 2008]., [RefSeq]; Carbonic anhydrase III is a new target of HIF1alpha in prostate cancer model., [RefSeq, PubMed]; Reversible hydration of carbon dioxide., [UniProtKB, PubMed, PubMed]; These data clearly suggests that CAIII serves as an important antioxidant critical in protecting NP cells against oxidative stress-induced injury. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R867;B3KUC8;O60842", "ec_number_list": [ { "id": "4.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.1", "type": "external" }, { "id": "4.2.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.69", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016791 phosphatase activity;GO:0004089 carbonate dehydratase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030017 sarcomere", "go_biological_process": "GO:1903427 negative regulation of reactive oxygen species biosynthetic process;GO:1903751 negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide;GO:0003009 skeletal muscle contraction;GO:0006979 response to oxidative stress;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P07451-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04003-1", "uniprot_id": [ { "id": "C4BPA_HUMAN", "url": "https://www.uniprot.org/uniprot/P04003", "type": "external" } ], "mass": 67033.0, "length": 597, "protein_name": "C4b-binding protein alpha chain", "gene_name": "C4BPA", "organism": "Human", "refseq_name": "C4b-binding protein alpha chain precursor", "refseq_ac": [ { "id": "NP_000706", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000706", "type": "external" } ], "gene_names_uniprotkb": "C4BPA; C4BP", "gene_names_refseq": "C4BPA; C4BP; PRP", "protein_names_uniprotkb": "C4b-binding protein alpha chain; C4bp; PRP; Proline-rich protein", "protein_names_refseq": "C4b-binding protein alpha chain precursor; C4b-binding protein alpha chain; proline-rich protein", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600)", "pathway": " (hsa:722); (R-HSA-977606); (R-HSA-9920588)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10.1101/2023.09.13.557529;10531307;1067618;11237011;11694537;11939578;12055245;1386357;14760718;16079145;16192651;16330538;16335952;16999828;17182573;17505110;17975675;18496526;19159218;19754307;1989602;21566123;21788512;22802338;23090970;23487775;24173023;2420889;24600566;2465906;2466593;2481448;2590215;26992070;27452731;27726376;27832191;28764923;293688;293746;29393594;29557506;2956252;29632711;29671580;2971659;29741879;29786170;29789417;301546;3017751;30459171;30550790;30833945;31154438;31844290;31867016;32152943;32157095;32432721;32778820;32983136;33091337;33141586;33392160;3378624;34171305;35051231;35547734;35580925;35733178;36284347;37074911;37376569;38261250;3840370;3848661;38811852;4033666;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8345200;8495193;8786315;9038722;978134", "class_list": "", "function": "Complement Activation-Independent Attenuation of SARS-CoV-2 Infection by C1q and C4b-Binding Protein. Publication Status: Online-Only, [RefSeq, PubMed]; Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It also interacts with anticoagulant protein S and with serum amyloid P component., [UniProtKB]; Higher-order structure and proteoforms of co-occurring C4b-binding protein assemblies in human serum., [RefSeq, PubMed]; Potential biomarkers of spinal dural arteriovenous fistula: C4BPA and C1QA. Publication Status: Online-Only, [RefSeq, PubMed]; The Complement System and C4b-Binding Protein: A Focus on the Promise of C4BPalpha as a Biomarker to Predict Clopidogrel Resistance. Review article, [RefSeq, PubMed]; The Hidden Side of Complement Regulator C4BP: Dissection and Evaluation of Its Immunomodulatory Activity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 28, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q5VVQ8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0072562 blood microparticle", "go_biological_process": "GO:0009609 response to symbiotic bacterium;GO:0045087 innate immune response;GO:0045732 positive regulation of protein catabolic process;GO:0045959 negative regulation of complement activation, classical pathway;GO:1903027 regulation of opsonization", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P04003-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54132-1", "uniprot_id": [ { "id": "BLM_HUMAN", "url": "https://www.uniprot.org/uniprot/P54132", "type": "external" } ], "mass": 159000.0, "length": 1417, "protein_name": "RecQ-like DNA helicase BLM", "gene_name": "BLM", "organism": "Human", "refseq_name": "recQ-like DNA helicase BLM isoform 1", "refseq_ac": [ { "id": "NP_000048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000048", "type": "external" } ], "gene_names_uniprotkb": "BLM; RECQ2; RECQL3", "gene_names_refseq": "BLM; BS; MGRISCE1; RECQ2; RECQL2; RECQL3", "protein_names_uniprotkb": "RecQ-like DNA helicase BLM; 5.6.2.4; Bloom syndrome protein; DNA 3'-5' helicase BLM; DNA helicase, RecQ-like type 2; RecQ protein-like 3; RecQ2", "protein_names_refseq": "Bloom syndrome RecQ like helicase; Bloom syndrome, RecQ helicase-like; DNA 3'-5' helicase BLM; DNA helicase, RecQ-like type 2; bloom syndrome protein; recQ protein-like 3; recQ-like DNA helicase BLM isoform 1; recQ-like DNA helicase BLM", "tax_id": 9606, "disease": "Bloom syndrome (Disease Ontology:DOID:2717); Werner syndrome (Disease Ontology:DOID:5688)", "pathway": " (hsa:641); (R-HSA-174414); (R-HSA-174437); (R-HSA-3108214); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-912446); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 20, "publication_count": 392, "publication_id_list": "10029069;10212258;10373512;10435622;10438626;10500146;10551859;10562567;10570149;10570174;10574707;10604467;10673500;10673501;10710310;10728666;10733923;10734115;10744977;10783165;10801132;10856253;10859164;10862105;10884347;10921897;10928988;11006276;11080452;11139606;11237011;11239457;11292842;11301010;11376695;11390642;11447225;11459987;11511362;11546806;11551930;11571269;11698410;11740489;11751635;11780126;11792325;11832208;11889051;12019152;12034743;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12545175;12578958;12686547;12702766;12721304;12750383;12791985;12851404;12912992;12914926;14527420;14576433;14702041;14716019;14729972;14734547;15053879;15164066;15175327;15189136;15190204;15257300;15302935;15304223;15355988;15359272;15485900;15608651;15665856;15703751;15707391;15775963;15823533;15829507;15866171;15916957;15940266;15959518;16030353;16123081;16148040;16153896;16292313;16322221;16322561;16327781;16337601;16360315;16478998;16530042;16565220;16595695;16608850;16626738;16688858;16793542;16810316;16864798;16880735;16885023;16964243;17108107;17114795;17200668;17200671;17200672;17289582;17349958;17407155;17420451;17515903;17541404;17575048;17591690;17693435;17924679;17928296;17961633;17962301;17965729;17977839;17981954;17996710;17996711;18171670;18256600;18317453;18426915;18452278;18490454;18535008;18539610;18541667;18593712;18625722;18669648;18691969;18708356;18757400;18805091;18923075;18923082;18923083;18957201;18971343;19007248;19074197;19121998;19268590;19287951;19357644;19369211;19413330;19419957;19584259;19596236;19596686;19608861;19609323;19622798;19651622;19690332;19691289;19706679;19779455;19941829;19945966;19956565;19965871;20016594;20016603;20044539;20044541;20062530;20068231;20154705;20190268;20207730;20233725;20551483;20639533;20705237;20719863;20729832;20729858;20729859;20818382;20871615;20871616;20959462;20965415;21052091;21098080;21147198;21240188;21263215;21284855;21317932;21325134;21335604;21520333;21550342;21565612;21659603;21680713;21777809;21804533;22021381;22024395;22194698;22231403;22460582;22508508;22593209;22635276;22645308;22661229;22661230;22751501;22792074;22977173;23000554;23149936;23186163;23345434;23468639;23485397;23509288;23604072;23676219;23686288;23731732;23750026;23754376;23783831;23810717;23871147;24013206;24027577;24038470;24076221;24141787;24145406;24190977;24257077;24371268;24435566;24485656;24509834;24714562;24715725;24782567;24816114;24831703;24874608;25113031;25114211;25122754;25218447;25558984;25659039;25755297;25766002;25772364;25794620;25901030;26145171;26154972;26992070;27600516;27846572;27849570;27899578;28089683;28158555;28218747;28228285;28228481;28240985;28319063;28514659;28649982;28832583;28834231;28904123;29165669;29242379;29393594;29493099;29508533;29557506;29608566;29632046;29632711;29769354;29786170;29789417;30192525;30289697;30311374;30315122;30379171;30429286;30524438;31092671;31217245;31586400;31636395;31757951;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32690953;32732220;32897882;32938616;32938750;32983136;33091337;33141586;33195396;33298915;33691108;33717175;33912179;33936100;33968037;33978741;33981976;34087483;34171305;34405274;34440403;34509645;34606619;34932366;35051231;35318648;35561310;35580925;36010968;36172813;36241641;37074911;37503837;37777511;37938771;38266639;38874681;7585968;8702565;8929543;9008167;9285778;9311981;9388193;9388480;9412458;9450758;9452416;9705271;9756909;9765292;9781043;9826763;9837724;9885291;9925639", "class_list": "", "function": "(Microbial infection) Eliminates nuclear HIV-1 cDNA, thereby suppressing immune sensing and proviral hyper-integration., [UniProtKB, PubMed]; A CK2 and SUMO-dependent, PML NB-involved regulatory mechanism controlling BLM ubiquitination and G-quadruplex resolution. Erratum:[Nat Commun. 2024 Feb 5;15(1):1077. doi: 10.1038/s41467-024-45551-1. PMID: 38316763] Publication Status: Online-Only, [RefSeq, PubMed]; ATP-dependent DNA helicase that unwinds double-stranded (ds)DNA in a 3'-5' direction (PubMed:24816114, PubMed:25901030, PubMed:9388193, PubMed:9765292). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288, PubMed:34606619). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and Holliday junction DNA (PubMed:20639533, PubMed:24257077, PubMed:25901030). Unwinds G-quadruplex DNA; unwinding occurs in the 3'-5' direction and requires a 3' single-stranded end of at least 7 nucleotides (PubMed:18426915, PubMed:9765292). Helicase activity is higher on G-quadruplex substrates than on duplex DNA substrates (PubMed:9765292). Telomeres, immunoglobulin heavy chain switch regions and rDNA are notably G-rich; formation of G-quadruplex DNA would block DNA replication and transcription (PubMed:18426915, PubMed:9765292). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Recruited by the KHDC3L-OOEP scaffold to DNA replication forks where it is retained by TRIM25 ubiquitination, it thereby promotes the restart of stalled replication forks (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; BLM and BRCA1-BARD1 coordinate complementary mechanisms of joint DNA molecule resolution., [RefSeq, PubMed]; BLM helicase protein negatively regulates stress granule formation through unwinding RNA G-quadruplex structures., [RefSeq, PubMed]; RecQ helicase expression in patients with telomeropathies. Publication Status: Online-Only, [RefSeq, PubMed]; The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families. [provided by RefSeq, May 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 52, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 90, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q52M96", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.22.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0043138 3'-5' DNA helicase activity;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016363 nuclear matrix", "go_biological_process": "GO:0032201 telomere maintenance via semi-conservative replication;GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0051259 protein complex oligomerization;GO:0051260 protein homooligomerization", "synthesized_glycan_count": 0, "hit_score": 39.9, "record_id": "P54132-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49913-1", "uniprot_id": [ { "id": "CAMP_HUMAN", "url": "https://www.uniprot.org/uniprot/P49913", "type": "external" } ], "mass": 19301.0, "length": 170, "protein_name": "Cathelicidin antimicrobial peptide", "gene_name": "CAMP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CAMP; CAP18; FALL39; HSD26", "gene_names_refseq": "", "protein_names_uniprotkb": "Cathelicidin antimicrobial peptide; 18 kDa cationic antimicrobial protein; CAP-18; FALL-39 peptide antibiotic; hCAP-18", "protein_names_refseq": "", "tax_id": 9606, "disease": "dentin caries (Disease Ontology:DOID:10461); pancreatitis (Disease Ontology:DOID:4989)", "pathway": " (hsa:820); (R-HSA-6798695); (R-HSA-6803157)", "pathway_count": 3, "publication_count": 92, "publication_id_list": "10417311;11120840;11237011;11238224;11313366;11389039;11971875;12493837;13816;14506276;14739326;14978112;1522221;15229136;15778384;15778390;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16637646;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;18818205;19095652;19179970;19254208;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21463582;21787330;22185690;22262861;22327069;22455996;22701042;22879591;23302724;23406372;23426625;23650620;24219363;24256734;25075772;25461571;25470744;25596890;26148048;27089320;28467828;29087182;29133814;29242379;29317506;29632711;30459171;32350084;32753597;3286634;33060695;34561969;34708076;35061360;35154160;7529412;7615076;7890387;8681941;8692836;8946956;9523110;9665269;9736536;9756476", "class_list": "", "function": "Acts synergistically with peptides KS-30 and KR-31, killing bacteria such as S.aureus, E.coli and C.albicans at lower concentrations when present together, and maintain activity at increased salt condition (PubMed:14978112). Does not have the ability to stimulate CXCL8/IL8 release from keratinocytes (PubMed:14978112)., [UniProtKB, PubMed]; Antimicrobial peptide that is an integral component of the innate immune system (PubMed:10417311, PubMed:15778390, PubMed:16637646, PubMed:18818205, PubMed:22879591, PubMed:32753597, PubMed:33060695, PubMed:34708076, PubMed:8681941, PubMed:9736536). Binds to bacterial lipopolysaccharides (LPS) (PubMed:10417311, PubMed:16637646, PubMed:18818205, PubMed:33060695, PubMed:9736536). Causes membrane permeabilization by forming transmembrane pores (in vitro) (PubMed:22879591, PubMed:32753597, PubMed:33060695). Causes lysis of E.coli (PubMed:10417311). Exhibits antimicrobial activity against Gram-negative bacteria such as P.aeruginosa, S.typhimurium, E.aerogenes, E.coli and P.syringae, Gram-positive bacteria such as L.monocytogenes, S.epidermidis, S.pyogenes and S.aureus, as well as vancomycin-resistant enterococci (in vitro) (PubMed:10417311, PubMed:32753597, PubMed:8681941, PubMed:9736536). Exhibits antimicrobial activity against methicillin-resistant S.aureus, P.mirabilis, and C.albicans in low-salt media, but not in media containing 100 mM NaCl (in vitro) (PubMed:9736536). Forms chiral supramolecular assemblies with quinolone signal (PQS) molecules of P.aeruginosa, which may lead to interference of bacterial quorum signaling and perturbance of bacterial biofilm formation (PubMed:34708076). May form supramolecular fiber-like assemblies on bacterial membranes (PubMed:29133814). Induces cytokine and chemokine production as well as TNF/TNFA and CSF2/GMCSF production in normal human keratinocytes (PubMed:15778390). Exhibits hemolytic activity against red blood cells (PubMed:10417311)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Antimicrobial protein that is an integral component of the innate immune system (PubMed:14978112, PubMed:16637646, PubMed:18818205, PubMed:22879591, PubMed:9736536). Binds to bacterial lipopolysaccharides (LPS) (PubMed:16637646, PubMed:18818205). Acts via neutrophil N-formyl peptide receptors to enhance the release of CXCL2 (PubMed:22879591). Postsecretory processing generates multiple cathelicidin antimicrobial peptides with various lengths which act as a topical antimicrobial defense in sweat on skin (PubMed:14978112). The unprocessed precursor form, cathelicidin antimicrobial peptide, inhibits the growth of Gram-negative E.coli and E.aerogenes with efficiencies comparable to that of the mature peptide LL-37 (in vitro) (PubMed:9736536)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Antimicrobial protein that is an integral component of the innate immune system. Binds to bacterial lipopolysaccharides (LPS). Acts via neutrophil N-formyl peptide receptors to enhance the release of CXCL2. Postsecretory processing generates multiple cathelicidin antimicrobial peptides with various lengths which act as a topical antimicrobial defense in sweat on skin. The unprocessed precursor form, cathelicidin antimicrobial peptide, inhibits the growth of Gram-negative E.coli and E.aerogenes with efficiencies comparable to that of the mature peptide LL-37 (in vitro)., [UniProtKB, UniProtKB]; Exhibits antimicrobial activity against E.coli and B.megaterium (in vitro)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Inhibits the growth of E.coli and B.megaterium and exhibits hemolytic activity against human red blood cells., [UniProtKB, PubMed]; Moderately antibacterial (PubMed:14978112). Acts synergistically with peptides KR-20 and KR-31, killing bacteria such as S.aureus, E.coli and C.albicans at lower concentrations when present together, and maintain activity at increased salt condition (PubMed:14978112). Does not have the ability to stimulate CXCL8/IL8 release from keratinocytes (PubMed:14978112)., [UniProtKB, PubMed]; Moderately antibacterial., [UniProtKB, PubMed]; Poorly active (MIC > 150 uM) against E.coli strain K12 (PubMed:14978112). Is able to induce the pro-inflammatory cytokine TNF/TNFA or the chemokine CCL2/MCP1 (PubMed:14978112)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q71SN9", "ec_number_list": [], "go_molecular_function": "GO:0001530 lipopolysaccharide binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0042581 specific granule;GO:0035580 specific granule lumen", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0097187 dentinogenesis;GO:0002760 positive regulation of antimicrobial humoral response;GO:0008284 positive regulation of cell population proliferation;GO:0019731 antibacterial humoral response", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P49913-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13901-1", "uniprot_id": [ { "id": "C1D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13901", "type": "external" } ], "mass": 16019.0, "length": 141, "protein_name": "Nuclear nucleic acid-binding protein C1D", "gene_name": "C1D", "organism": "Human", "refseq_name": "nuclear nucleic acid-binding protein C1D", "refseq_ac": [ { "id": "NP_001177192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177192", "type": "external" } ], "gene_names_uniprotkb": "C1D", "gene_names_refseq": "C1D; LRP1; Rrp47; SUN-CoR; SUNCOR; hC1D", "protein_names_uniprotkb": "Nuclear nucleic acid-binding protein C1D; hC1D", "protein_names_refseq": "C1D DNA-binding protein; C1D nuclear receptor co-repressor; nuclear DNA-binding protein; nuclear nucleic acid-binding protein C1D; small unique nuclear receptor co-repressor; small unique nuclear receptor corepressor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10438); (R-HSA-6791226); (R-HSA-9930044)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "10362552;11237011;11801738;11922599;12068309;12150911;16037817;16043514;16738141;17174896;17189298;17353269;17412707;18065403;18438418;19106111;19332556;19564402;19801658;20038530;20056613;20530579;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21136679;21705430;21855801;21872626;22072790;22190735;22195017;22916032;23439679;23481700;23482395;2388630;24397554;24424021;24550520;24715725;25525153;25576301;25578728;25645385;25772364;25969445;26154972;26237581;26375851;26758079;26811146;26992070;27397612;27434818;27600516;27846572;27871484;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29298432;29331515;29393594;29437277;29493099;29557506;29786170;29789417;29906447;30165670;30315122;30410026;30484775;30524438;30779550;30833945;31154438;31530632;31844290;31848261;31950173;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33767452;33912179;33913806;33968037;33981976;34171305;34185709;34405274;34509645;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37875486;37938771;9469821;9482744;9679063;9852280", "class_list": "", "function": "C1D is associated with the DNA repair complex and may promote repair of ultraviolet irradiation-induced DNA damage., [RefSeq, PubMed]; Data confirm that C1D is not directly involved in repair of UV-damaged DNA; C1D appears to protects cells from oxidative stress (induced by UV irradiation or hydrogen peroxide oxidation) by regulating expression of DNA repair/transcription enzymes such as APEX1 or DDIT3. (C1D = nuclear receptor corepressor C1D; APEX1 = apurinic/apyrimidinic endodeoxyribonuclease-1; DDIT3 = DNA damage inducible transcript-3), [RefSeq, PubMed]; Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Plays a role in the recruitment of the exosome to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA., [UniProtKB, UniProtKB]; The C1D protein interacts with the catalytic subunit of DNA-PK and is a very effective substrate for DNA-PK in vitro. Moreover, C1D directs the activation of DNA-PK in a manner that does not require DNA termini, suggesting a role for C1D in DNA repair., [RefSeq, PubMed]; The protein encoded by this gene is a DNA binding and apoptosis-inducing protein and is localized in the nucleus. It is also a Rac3-interacting protein which acts as a corepressor for the thyroid hormone receptor. This protein is thought to regulate TRAX/Translin complex formation. Alternate splicing results in multiple transcript variants that encode the same protein. Multiple pseudogenes of this gene are found on chromosome 10.[provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K336;D6W5F8;Q05D64", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003714 transcription corepressor activity;GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006915 apoptotic process;GO:0010468 regulation of gene expression;GO:0000460 maturation of 5.8S rRNA;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q13901-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P82251-1", "uniprot_id": [ { "id": "BAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P82251", "type": "external" } ], "mass": 53481.0, "length": 487, "protein_name": "b(0,+)-type amino acid transporter 1", "gene_name": "SLC7A9", "organism": "Human", "refseq_name": "B(0,+)-type amino acid transporter 1", "refseq_ac": [ { "id": "NP_001119807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119807", "type": "external" } ], "gene_names_uniprotkb": "SLC7A9; BAT1", "gene_names_refseq": "BAT1; CSNU3; SLC7A9", "protein_names_uniprotkb": "b(0,+)-type amino acid transporter 1; Glycoprotein-associated amino acid transporter b0,+AT1; Solute carrier family 7 member 9; b(0,+)AT1", "protein_names_refseq": "B(0,+)-type amino acid transporter 1; b(0,+)AT; cystinuria type 3; glycoprotein-associated amino acid transporter b0,+AT1; solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9; solute carrier family 7 (cationic amino acid transporter, y+ system), member 9; solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9", "tax_id": 9606, "disease": "cystinuria (Disease Ontology:DOID:9266)", "pathway": " (hsa:11136); (R-HSA-210991); (R-HSA-352230); (R-HSA-5619113); (R-HSA-5660883)", "pathway_count": 5, "publication_count": 75, "publication_id_list": "10358010;10391915;10471498;10485994;10588648;10698697;10823827;10863037;10880960;10891391;10903140;10921872;10930503;11157794;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11719518;11827462;11943775;12167606;12202949;12234283;12371955;12527723;12558975;12809675;12820697;12930836;14707126;15151999;15635077;15659399;15901826;15918515;15946952;16138908;16260747;16609684;16825196;17996943;18195088;18752446;19782624;21097500;21255007;24652292;27846572;29242379;31154438;32350084;32488085;32494597;32817565;32938616;33349102;34773193;37439839;37561200;39894887;7589472;8010975;8054986;8101838;8340364;8663357;8702519;8910405;9174363;9360995;9878049", "class_list": "", "function": "Associates with SLC3A1 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1 (PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:8663357). Has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids (PubMed:16825196, PubMed:32494597, PubMed:8663357). Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L-cysteine (PubMed:8663357). Required for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in renal proximal tubules., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical profile of a Polish cohort of children and young adults with cystinuria., [RefSeq, PubMed]; Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability. Publication Status: Online-Only, [RefSeq, PubMed]; Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain. Publication Status: Online-Only, [RefSeq, PubMed]; SLC7A9 as a Potential Biomarker for Lymph Node Metastasis of Esophageal Squamous Cell Carcinoma., [RefSeq, PubMed]; Structural basis for amino acid exchange by a human heteromeric amino acid transporter., [RefSeq, PubMed]; This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9A6", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0042605 peptide antigen binding;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0015297 antiporter activity;GO:0015184 L-cystine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0015804 neutral amino acid transport;GO:0015811 L-cystine transport;GO:0003333 amino acid transmembrane transport;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P82251-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43286-1", "uniprot_id": [ { "id": "B4GT5_HUMAN", "url": "https://www.uniprot.org/uniprot/O43286", "type": "external" } ], "mass": 45119.0, "length": 388, "protein_name": "Beta-1,4-galactosyltransferase 5", "gene_name": "B4GALT5", "organism": "Human", "refseq_name": "beta-1,4-galactosyltransferase 5", "refseq_ac": [ { "id": "NP_004767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004767", "type": "external" } ], "gene_names_uniprotkb": "B4GALT5", "gene_names_refseq": "B4GALT5; B4Gal-T5; BETA4-GALT-IV; beta4Gal-T5; beta4GalT-V; gt-V", "protein_names_uniprotkb": "Beta-1,4-galactosyltransferase 5; 2.4.1.-; 2.4.1.274; Beta-1,4-GalT II; Beta-1,4-GalTase 5; Beta4Gal-T5; Glucosylceramide beta-1,4-galactosyltransferase; LacCer synthase; Lactosylceramide synthase; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5; b4Gal-T5", "protein_names_refseq": "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5; UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5; beta-1,4-GalT II; beta-1,4-GalT IV; beta-1,4-GalTase 5; beta-1,4-galactosyltransferase 5; beta-1.4-galactosyltransferase V; beta4-GalT IV; glucosylceramide beta-1,4-galactosyltransferase; lacCer synthase; lactosylceramide synthase", "tax_id": 9606, "disease": "multiple sclerosis (Disease Ontology:DOID:2377)", "pathway": " (hsa:9334); (R-HSA-2022854); (R-HSA-913709); (R-HSA-975577); (R-HSA-9840309)", "pathway_count": 5, "publication_count": 123, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10206952;10330415;10395745;10430883;10491328;10504389;10570912;10580128;10601645;10700233;10748143;10753916;10766765;10993897;11018043;11030741;11042166;11042394;11283017;11304796;11421344;11425186;11530204;11588157;11821425;11901181;11956206;12097641;12218059;12222957;12603328;12668675;12765789;12815231;12855678;12888565;1329093;15486459;15560372;15620693;15939404;1601877;16434023;16924681;16934889;17006639;17021253;17113861;1714903;17488527;18537974;18931531;19403558;20117844;20547865;2118655;22183981;22735313;23290777;23328677;23584533;23746551;23882130;24498430;24643043;25576301;25813380;26154972;28904123;29242379;29415997;29493099;29557506;29802621;30315122;30502090;30607818;30626607;31844290;32157095;32350084;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34357683;34433824;34709725;34982351;35251023;35561310;36215666;37938771;38034954;7655172;7876235;7890749;8333853;8611500;8643456;8830034;8910600;8920913;9030544;9054414;9125199;9199191;9295285;9394011;9405439;9417100;9435216;9582303;9597550;9822625;9915862;9988682", "class_list": "glycogene;glycosyltransferase", "function": "Beta-1,4-GalT-V gene/protein expression is specifically increased in colorectal cancer, compared to visibly normal tissue. Furthermore, we observed a marked increase in its enzymatic activity, and its product lactosylceramide. beta-1,4-GalT-V may serve as a diagnostic and therapeutic biomarker for the progression of colorectal cancer., [RefSeq, PubMed]; Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). Plays a role in the glycosylation of BMPR1A and regulation of its protein stability (By similarity). Essential for extraembryonic development during early embryogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed]; Circ_0009910 sponges miR-491-5p to promote acute myeloid leukemia progression through modulating B4GALT5 expression and PI3K/AKT signaling pathway., [RefSeq, PubMed]; Hsc70 Interacts with beta4GalT5 to Regulate the Growth of Gliomas., [RefSeq, PubMed]; Results demonstrated B4GalT5 downregulation improved insulin resistance by promoting adipogenic commitment and decreasing M1 macrophage infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 361, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "E1P625;Q2M394;Q9UJQ8;U6C5D7", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.274", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.274", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" } ], "go_molecular_function": "GO:0008378 galactosyltransferase activity;GO:0046872 metal ion binding;GO:0008489 UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity;GO:0003945 N-acetyllactosamine synthase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0032580 Golgi cisterna membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0022010 central nervous system myelination;GO:0005975 carbohydrate metabolic process;GO:0009101 glycoprotein biosynthetic process;GO:0016266 protein O-linked glycosylation via N-acetyl-galactosamine;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 2205, "hit_score": 13.1, "record_id": "O43286-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02747-1", "uniprot_id": [ { "id": "C1QC_HUMAN", "url": "https://www.uniprot.org/uniprot/P02747", "type": "external" } ], "mass": 25774.0, "length": 245, "protein_name": "Complement C1q subcomponent subunit C", "gene_name": "C1QC", "organism": "Human", "refseq_name": "complement C1q subcomponent subunit C isoform 1 precursor", "refseq_ac": [ { "id": "NP_001107573", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107573", "type": "external" } ], "gene_names_uniprotkb": "C1QC; C1QG", "gene_names_refseq": "C1Q-C; C1QC; C1QD3; C1QG", "protein_names_uniprotkb": "Complement C1q subcomponent subunit C", "protein_names_refseq": "complement C1q subcomponent subunit C isoform 1 precursor; complement C1q subcomponent subunit C; complement component 1, q subcomponent, C chain; complement component 1, q subcomponent, gamma polypeptide", "tax_id": 9606, "disease": "C1Q deficiency 3 (MONDO:MONDO:0958188)", "pathway": " (hsa:714); (R-HSA-166663); (R-HSA-173623); (R-HSA-977606)", "pathway_count": 4, "publication_count": 95, "publication_id_list": "10531307;1067618;10925294;11237011;11694537;11939578;12055245;12396008;1249422;12847249;12960167;1386357;14280442;15199963;16079145;16192651;16999828;1706597;17074750;17182573;17505110;18250442;19006321;19706439;20548024;21788512;22802338;23487775;23650384;2420889;24626930;2465906;2466593;2481448;293688;293746;29449492;29557506;2956252;2971659;2988513;301546;30429286;31154438;31844290;32157095;32387766;3258649;32938616;32983136;33043033;33123756;34155115;34320915;35051231;35580925;35765947;37938771;3848661;4098172;486087;6019133;6214588;6218163;6219696;6222381;6230668;6238120;6249812;6334079;6454142;6607952;670886;6776418;6906228;6952210;702059;70787;708376;7391570;7391573;7542572;760802;761607;7690834;7691959;814163;8345200;8495193;8538770;8630118;8786315;9038722;9777412;978134", "class_list": "", "function": "Complement C1QC as a potential prognostic marker and therapeutic target in colon carcinoma based on single-cell RNA sequencing and immunohistochemical analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Core component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:12847249, PubMed:19006321, PubMed:24626930, PubMed:29449492, PubMed:3258649, PubMed:34155115, PubMed:6249812, PubMed:6776418). The classical complement pathway is initiated by the C1Q subcomplex of the C1 complex, which specifically binds IgG or IgM immunoglobulins complexed with antigens, forming antigen-antibody complexes on the surface of pathogens: C1QA, together with C1QB and C1QC, specifically recognizes and binds the Fc regions of IgG or IgM via its C1q domain (PubMed:12847249, PubMed:19006321, PubMed:24626930, PubMed:29449492, PubMed:3258649, PubMed:6776418). Immunoglobulin-binding activates the proenzyme C1R, which cleaves C1S, initiating the proteolytic cascade of the complement system (PubMed:29449492). The C1Q subcomplex is activated by a hexamer of IgG complexed with antigens, while it is activated by a pentameric IgM (PubMed:19706439, PubMed:24626930, PubMed:29449492). The C1Q subcomplex also recognizes and binds phosphatidylserine exposed on the surface of cells undergoing programmed cell death, possibly promoting activation of the complement system (PubMed:18250442)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Neuroinflammation and psychiatric disorders: Relevance of C1q, translocator protein (18 kDa) (TSPO), and neurosteroids. Review article, [RefSeq, PubMed]; This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z502;Q96DL2;Q96H05", "ec_number_list": [], "go_molecular_function": "GO:0001786 phosphatidylserine binding;GO:0001791 IgM binding;GO:0019864 IgG binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098888 extrinsic component of presynaptic membrane;GO:0098890 extrinsic component of postsynaptic membrane;GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006955 immune response;GO:0045087 innate immune response;GO:0030853 negative regulation of granulocyte differentiation;GO:0045650 negative regulation of macrophage differentiation;GO:0098883 synapse pruning", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P02747-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11274-1", "uniprot_id": [ { "id": "BCR_HUMAN", "url": "https://www.uniprot.org/uniprot/P11274", "type": "external" } ], "mass": 142819.0, "length": 1271, "protein_name": "Breakpoint cluster region protein", "gene_name": "BCR", "organism": "Human", "refseq_name": "breakpoint cluster region protein isoform 1", "refseq_ac": [ { "id": "NP_004318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004318", "type": "external" } ], "gene_names_uniprotkb": "BCR; BCR1; D22S11", "gene_names_refseq": "ALL; BCR1; BCR; CML; D22S11; D22S662; PHL", "protein_names_uniprotkb": "Breakpoint cluster region protein; 2.7.11.1; Renal carcinoma antigen NY-REN-26", "protein_names_refseq": "BCR, RhoGEF and GTPase activating protein; BCR/FGFR1 chimera protein; BCR::ABL1 fusion protein; FGFR1/BCR chimera protein; breakpoint cluster region protein isoform 1; breakpoint cluster region; renal carcinoma antigen NY-REN-26", "tax_id": 9606, "disease": "leukemia (Disease Ontology:DOID:1240); chronic myeloid leukemia (Disease Ontology:DOID:8552); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:613); (R-HSA-1839117); (R-HSA-5655302); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423)", "pathway_count": 10, "publication_count": 502, "publication_id_list": 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"class_list": "", "function": "A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The unregulated tyrosine kinase activity of BCR-ABL1 contributes to the immortality of leukaemic cells. The BCR protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac and other kinases. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2020]., [RefSeq]; Developmental trajectories and cooperating genomic events define molecular subtypes of BCR::ABL1-positive ALL., [RefSeq, PubMed]; Histone demethylase PHF8 facilitates the development of chronic myeloid leukaemia by directly targeting BCR::ABL1. Erratum:[Br J Haematol. 2024 May;204(5):2134-2135. doi: 10.1111/bjh.19415. PMID: 38567568], [RefSeq, PubMed]; Protein with a unique structure having two opposing regulatory activities toward small GTP-binding proteins. The C-terminus is a GTPase-activating protein (GAP) domain which stimulates GTP hydrolysis by RAC1, RAC2 and CDC42. Accelerates the intrinsic rate of GTP hydrolysis of RAC1 or CDC42, leading to down-regulation of the active GTP-bound form (PubMed:17116687, PubMed:1903516, PubMed:7479768). The central Dbl homology (DH) domain functions as guanine nucleotide exchange factor (GEF) that modulates the GTPases CDC42, RHOA and RAC1. Promotes the conversion of CDC42, RHOA and RAC1 from the GDP-bound to the GTP-bound form (PubMed:23940119, PubMed:7479768). The amino terminus contains an intrinsic kinase activity (PubMed:1657398). Functions as an important negative regulator of neuronal RAC1 activity (By similarity). Regulates macrophage functions such as CSF1-directed motility and phagocytosis through the modulation of RAC1 activity (PubMed:17116687). Plays a major role as a RHOA GEF in keratinocytes being involved in focal adhesion formation and keratinocyte differentiation (PubMed:23940119)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The interplay between telomeric complex members and BCR::ABL1 oncogenic tyrosine kinase in the maintenance of telomere length in chronic myeloid leukemia., [RefSeq, PubMed]; Validation of a novel NGS based BCR::ABL1 kinase domain mutation detection assay in Indian cohort. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 39, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P78501;Q12842;Q4LE80;Q6NZI3", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.56", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "7.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.2", "type": "external" }, { "id": "7.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.3", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0004713 protein tyrosine kinase activity;GO:0005096 GTPase activator activity;GO:0005524 ATP binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030216 keratinocyte differentiation;GO:0002692 negative regulation of cellular extravasation", "synthesized_glycan_count": 0, "hit_score": 50.5, "record_id": "P11274-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15538-1", "uniprot_id": [ { "id": "C11B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P15538", "type": "external" } ], "mass": 57573.0, "length": 503, "protein_name": "Cytochrome P450 11B1, mitochondrial", "gene_name": "CYP11B1", "organism": "Human", "refseq_name": "cytochrome P450 11B1, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_000488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000488", "type": "external" } ], "gene_names_uniprotkb": "CYP11B1; S11BH", "gene_names_refseq": "CPN1; CYP11B1; CYP11B; FHI; P450C11", "protein_names_uniprotkb": "Cytochrome P450 11B1, mitochondrial; 1.14.15.4; CYP11B1; CYPXIB1; Cytochrome P-450c11; Cytochrome P450C11; Steroid 11-beta-hydroxylase, CYP11B1", "protein_names_refseq": "cytochrome P-450c11; cytochrome P450 11B1, mitochondrial isoform 1 precursor; cytochrome P450 11B1, mitochondrial; cytochrome P450, family 11, subfamily B, polypeptide 1; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1; cytochrome P450C11; cytochrome p450 XIB1; steroid 11-beta-hydroxylase, CYP11B1; steroid 11-beta-monooxygenase", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); adrenal cortical adenoma (Disease Ontology:DOID:0050891); stroke (Disease Ontology:DOID:0051061); familial hyperaldosteronism (Disease Ontology:DOID:0061247); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); carotid stenosis (Disease Ontology:DOID:13001); alcoholic liver cirrhosis (Disease Ontology:DOID:14018); glucocorticoid-remediable aldosteronism (Disease Ontology:DOID:14080); renal tubular acidosis (Disease Ontology:DOID:14219); coronary artery disease (Disease Ontology:DOID:3393); brain infarction (Disease Ontology:DOID:3454); primary hyperaldosteronism (Disease Ontology:DOID:446); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); myocarditis (Disease Ontology:DOID:820); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1584); (R-HSA-194002); (R-HSA-211976); (R-HSA-5579017)", "pathway_count": 4, "publication_count": 65, "publication_id_list": "10391209;10391210;10588945;10599751;11237011;11555828;12530636;12832414;15042513;1518866;1594605;16046588;1708392;1741400;1775135;18215163;18661760;1885595;1944309;19661213;20089618;20149798;20200334;2022736;20331679;20947076;21636783;2243100;2256920;22772592;23322723;23685396;23940125;2401360;24022297;24536089;24987415;2592361;26053152;26476331;2770297;2889032;29277707;29557506;3024157;3038528;32357974;32938616;3299377;3487786;3499608;35051231;35831903;36929050;37486441;38285409;38858218;7195404;7903314;8506298;8619637;8768848;9302260;9536209;9578606", "class_list": "", "function": "A cytochrome P450 monooxygenase mainly involved in the biosynthesis of adrenal corticoids (PubMed:12530636, PubMed:1518866, PubMed:1775135, PubMed:18215163, PubMed:23322723, PubMed:23685396, PubMed:29277707). Catalyzes a variety of reactions that are essential for many species, including detoxification, defense, and the formation of endogenous chemicals like steroid hormones. Steroid 11beta, 18- and 19-hydroxylase with preferred regioselectivity at 11beta, then 18, and lastly 19 (By similarity). Catalyzes the hydroxylation of 11-deoxycortisol and 11-deoxycorticosterone (21-hydroxyprogesterone) at 11beta position, yielding cortisol or corticosterone, respectively, but cannot produce aldosterone (PubMed:12530636, PubMed:1518866, PubMed:1775135, PubMed:18215163, PubMed:23322723, PubMed:23685396, PubMed:29277707). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate for hydroxylation and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:18215163, PubMed:23685396). Due to its lack of 18-oxidation activity, it is incapable of generating aldosterone (PubMed:23322723). Besides its role in the biosynthesis of mineralocorticoids and glucocorticoids, it can also participate in the androgen metabolic pathway, converting androst-4-ene-3,17-dione to 11beta-hydroxyandrost-4-ene-3,17-dione, and testosterone (17beta-hydroxy-4-androsten-3-one) to 11beta,17beta-dihydroxyandrost-4-ene-3-one (PubMed:23685396, PubMed:29277707)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. Erratum:[World J Pediatr. 2024 Jan 19. doi: 10.1007/s12519-023-00784-w. PMID: 38240902], [RefSeq, PubMed]; Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and functional characterization of compound heterozygous CYP11B1 gene mutations., [RefSeq, PubMed]; Molecular analysis of 12 Chinese patients with 11beta-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; [Analysis of a family with 11beta-hydroxylase deficiency due to a mutation in the CYP11B1 gene]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 18, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q14095;Q4VAQ8;Q4VAQ9;Q9UML2", "ec_number_list": [ { "id": "1.14.15.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.4", "type": "external" }, { "id": "1.14.15.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.15.5", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0004507 steroid 11-beta-monooxygenase activity;GO:0047783 corticosterone 18-monooxygenase activity;GO:0004497 monooxygenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006955 immune response;GO:0008203 cholesterol metabolic process;GO:0008217 regulation of blood pressure;GO:0032870 cellular response to hormone stimulus;GO:0042593 glucose homeostasis", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "P15538-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20851-1", "uniprot_id": [ { "id": "C4BPB_HUMAN", "url": "https://www.uniprot.org/uniprot/P20851", "type": "external" } ], "mass": 28357.0, "length": 252, "protein_name": "C4b-binding protein beta chain", "gene_name": "C4BPB", "organism": "Human", "refseq_name": "C4b-binding protein beta chain isoform 1 precursor", "refseq_ac": [ { "id": "NP_000707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000707", "type": "external" } ], "gene_names_uniprotkb": "C4BPB", "gene_names_refseq": "C4BPB; C4BP", "protein_names_uniprotkb": "C4b-binding protein beta chain", "protein_names_refseq": "C4b-binding protein beta chain isoform 1 precursor; C4b-binding protein beta chain", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600)", "pathway": " (hsa:725); (R-HSA-977606); (R-HSA-9920588)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;10531307;1067618;11237011;11694537;11939578;12055245;1386357;14760718;16079145;16192651;16335952;16999828;17182573;17505110;18496526;19159218;19754307;21566123;21788512;22802338;2300577;23090970;23487775;24173023;2420889;2465906;2466593;2481448;26897815;27832191;28163174;28278182;28764923;293688;293746;29391424;2956252;29671580;2971659;29741879;301546;30459171;30550790;31867016;32152943;32432721;32778820;33968037;35051231;37074911;37806602;38253038;3848661;38811852;4098172;6214588;6219696;6222381;6230668;6238120;6334079;6454142;6607952;670886;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;8325877;8345200;8495193;8786315;9038722;978134", "class_list": "", "function": "C4BP is deposited in the diseased aortic valve, coincident with C3d expression., [RefSeq, PubMed]; C4BP(beta-)-mediated immunomodulation attenuates inflammation in DSS-induced murine colitis and in myeloid cells from IBD patients., [RefSeq, PubMed]; Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S., [UniProtKB]; Exposure to arterial blood pressure leads to a transient presence of C4bp in the saphenous vein wall., [RefSeq, PubMed]; Higher-order structure and proteoforms of co-occurring C4b-binding protein assemblies in human serum., [RefSeq, PubMed]; SAA, PROZ, and C4BPB may serve as new potential biomarkers for TB Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 41, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A5JYP8;D3DT81;Q5VVR0;Q9BS25", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0009609 response to symbiotic bacterium;GO:0045087 innate immune response;GO:0007596 blood coagulation;GO:0045732 positive regulation of protein catabolic process;GO:0045959 negative regulation of complement activation, classical pathway", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "P20851-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47756-2", "uniprot_id": [ { "id": "CAPZB_HUMAN", "url": "https://www.uniprot.org/uniprot/P47756", "type": "external" } ], "mass": 30629.0, "length": 272, "protein_name": "F-actin-capping protein subunit beta", "gene_name": "CAPZB", "organism": "Human", "refseq_name": "F-actin-capping protein subunit beta isoform 2", "refseq_ac": [ { "id": "NP_001193469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193469", "type": "external" } ], "gene_names_uniprotkb": "CAPZB", "gene_names_refseq": "CAPB; CAPPB; CAPZB; CAPZ", "protein_names_uniprotkb": "F-actin-capping protein subunit beta; CapZ beta", "protein_names_refseq": "F-actin-capping protein subunit beta isoform 2; F-actin-capping protein subunit beta; capZ beta; capping actin protein of muscle Z-line beta subunit; capping protein (actin filament) muscle Z-line, beta; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "dementia (Disease Ontology:DOID:1307); cleft palate (Disease Ontology:DOID:674)", "pathway": " (hsa:832); (R-HSA-2132295); (R-HSA-3371497); (R-HSA-6807878); (R-HSA-6811436); (R-HSA-9013405); (R-HSA-9035034); (R-HSA-9662360); (R-HSA-983231)", "pathway_count": 9, "publication_count": 354, "publication_id_list": "10025409;10036229;10052452;10064083;10072072;10318838;10359595;10445031;10480952;10540230;10559959;10559986;10562278;10593899;10631941;10631952;10639150;10679020;10747884;10748235;10761932;10809954;10903204;10921873;10958351;11035033;11042108;11062261;11080672;11163272;11172815;11242053;11285137;11306556;11461920;11483508;11529500;11589254;11684289;11689559;11701661;11703931;11726511;11744692;11748249;11751636;11751894;11784792;11790530;11813165;11853874;11895428;11950885;12032298;12047556;12070132;12078484;12134158;12198549;12388752;12401177;12427746;12432908;12447383;12577064;12634853;12665801;12742663;12748383;12781197;12925777;13486053;14654841;14731593;14742712;1493716;15020713;15037235;15159550;15247287;15381148;15483056;15591061;15616190;15632110;15710388;15728195;15749704;15813748;15850461;15878873;15911768;15914536;16030262;16054028;16181339;16207721;16242130;1630448;1631136;16314391;16403413;16408927;16618111;16633337;16678097;16723730;16777452;1680566;16824007;16912714;16926190;16940185;17027967;17064668;17142755;17196961;17253781;17274799;17283181;17360540;17429068;17451557;17488286;17591767;17760859;17765681;17804755;17827179;17916560;17927562;17956946;18046453;18086915;18182008;18215318;18243712;18254226;18283113;18292509;18491316;18524849;18635947;18641641;18664496;18809720;1898986;19015319;19109418;19164740;19293402;19296914;19359544;1956401;19564404;1957170;19608861;19631211;19635840;19753100;19758564;19922875;20006655;20038533;20068231;20072699;20233848;20357002;20420828;20427317;20530532;20627800;20637885;21116285;21119010;21158691;21173190;21183720;2121367;21219331;21376746;21441454;21689688;21700222;21796517;21834987;21844168;218813;2190094;22011577;22013193;22094269;22130221;22223895;22266222;22304919;22318716;22433123;22562055;22665057;22791416;23087206;23096567;23186163;23333653;23481700;23783758;23839779;2391366;24012426;24102721;24119662;24694367;24806965;24891604;25233431;25436559;25453831;25492864;25645385;25668492;25746724;26073023;26203193;26313416;26845023;27278019;27462449;27481945;27663436;27852748;27920218;28083797;28218747;28228285;28301631;28486133;28493397;28510447;28755533;28832583;28919297;28947137;29242379;29776664;29786170;30197098;30315122;30361697;30379171;30524438;30833945;31110491;31141847;31154438;31222486;31530632;31731497;31826031;31844290;31848261;31871319;32016915;32161166;32320027;32448030;32544881;32870666;32982970;33043033;33214551;34019948;3409321;34229054;34725712;35083852;35132862;35705054;36284347;37938771;38665916;40307207;40596516;40914422;6645495;6891012;7481823;7592972;7650016;7665558;7667286;7691276;8001155;8046351;8128252;8132710;8134367;8145819;8148318;8157723;8221884;8253837;8282004;8313912;8397411;8415765;8505331;8560673;8620540;8636227;8642258;8662638;8687433;8816476;8849454;8909537;8939989;8945468;8947036;8991093;9030515;9050864;9065479;9075930;9114004;9150144;9177194;9202021;9230307;9244307;9288971;9311912;9312039;9323141;9326583;9331217;9380700;9382863;9405360;9422515;9464360;9464361;9490716;9497313;9539769;9545226;9606180;9667968;9671725;9671731;9733780;9751720;9927674;9990005", "class_list": "", "function": "F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Plays a role in the regulation of cell morphology and cytoskeletal organization. Forms, with CAPZB, the barbed end of the fast growing ends of actin filaments in the dynactin complex and stabilizes dynactin structure. The dynactin multiprotein complex activates the molecular motor dynein for ultra-processive transport along microtubules (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes the beta subunit of the barbed-end actin binding protein, which belongs to the F-actin capping protein family. The capping protein is a heterodimeric actin capping protein that blocks actin filament assembly and disassembly at the fast growing (barbed) filament ends and functions in regulating actin filament dynamics as well as in stabilizing actin filament lengths in muscle and nonmuscle cells. A pseudogene of this gene is located on the long arm of chromosome 2. Multiple alternatively spliced transcript variants encoding different isoforms have been found.[provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q32Q68;Q5U0L4;Q8TB49;Q9NUC4", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005903 brush border;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0051016 barbed-end actin filament capping", "synthesized_glycan_count": 0, "hit_score": 35.8, "record_id": "P47756-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13072-1", "uniprot_id": [ { "id": "BAGE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13072", "type": "external" } ], "mass": 4810.0, "length": 43, "protein_name": "B melanoma antigen 1", "gene_name": "BAGE", "organism": "Human", "refseq_name": "B melanoma antigen 1", "refseq_ac": [ { "id": "NP_001178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001178", "type": "external" } ], "gene_names_uniprotkb": "BAGE; BAGE1", "gene_names_refseq": "BAGE1; BAGE; CT2.1", "protein_names_uniprotkb": "B melanoma antigen 1; Antigen MZ2-BA; B melanoma antigen; CT2.1; Cancer/testis antigen 2.1", "protein_names_refseq": "B melanoma antigen 1; antigen MZ2-BA; cancer/testis antigen 2.1; cancer/testis antigen family 2, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:574)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "12461691;18541613;20423514;32157095;7895173", "class_list": "", "function": "BAGE loci were hypomethylated in 81% of colorectal carcinoma samples., [RefSeq, PubMed]; Five new BAGE genes mapping to the juxtacentromeric regions of human chromosomes 13 and 21 and nine BAGE gene fragments mapping to the juxtacentromeric regions of chromosomes 9, 13, 18, and 21, [RefSeq, PubMed]; This gene encodes a tumor antigen recognized by autologous cytolytic lymphocytes (CTL). [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor-specific antigen BAGE may play a role in the occurrence and development of ovarian cancer and can be used as one of the important indicators for early diagnosis, efficacy evaluation and prognostic determination of ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Unknown. Antigen recognized on a melanoma by autologous cytolytic T-lymphocytes., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4IF47", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q13072-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13323-1", "uniprot_id": [ { "id": "BIK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13323", "type": "external" } ], "mass": 18016.0, "length": 160, "protein_name": "Bcl-2-interacting killer", "gene_name": "BIK", "organism": "Human", "refseq_name": "bcl-2-interacting killer", "refseq_ac": [ { "id": "NP_001188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188", "type": "external" } ], "gene_names_uniprotkb": "BIK; NBK", "gene_names_refseq": "BIK; BIP1; BP4; NBK", "protein_names_uniprotkb": "Bcl-2-interacting killer; Apoptosis inducer NBK; BIP1; BP4", "protein_names_refseq": "BCL2-interacting killer (apoptosis-inducing); apoptosis inducer NBK; apoptosis-inducing NBK; bcl-2-interacting killer; natural born killer", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); ataxia telangiectasia (Disease Ontology:DOID:12704); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:638)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10500065;14633680;18953687;23235460;23563182;24637719;26992070;29033852;30779550;31387940;32350084;32502341;33936100;33981976;34962825;35008922;7478623;8521816;8816500", "class_list": "", "function": "Accelerates programmed cell death. Association to the apoptosis repressors Bcl-X(L), BHRF1, Bcl-2 or its adenovirus homolog E1B 19k protein suppresses this death-promoting activity. Does not interact with BAX., [UniProtKB, PubMed]; RNA Exosome Component EXOSC4 Amplified in Multiple Cancer Types Is Required for the Cancer Cell Survival. Publication Status: Online-Only, [RefSeq, PubMed]; Rhomboid domain containing 1 promotes the growth of non-small cell lung cancer through the activation of EGFR and regulation of the BIK-mediated apoptosis., [RefSeq, PubMed]; The protein encoded by this gene shares a critical BH3 domain with other death-promoting proteins, such as BID, BAK, BAD and BAX, that is required for its pro-apoptotic activity, and for interaction with anti-apoptotic members of the BCL2 family, and viral survival-promoting proteins. Since the activity of this protein is suppressed in the presence of survival-promoting proteins, it is suggested as a likely target for anti-apoptotic proteins. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q16582;Q6FH93", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031966 mitochondrial membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006915 apoptotic process;GO:0008584 male gonad development;GO:0031334 positive regulation of protein-containing complex assembly;GO:0042981 regulation of apoptotic process;GO:0090200 positive regulation of release of cytochrome c from mitochondria", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q13323-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13939-1", "uniprot_id": [ { "id": "CALI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13939", "type": "external" } ], "mass": 66582.0, "length": 588, "protein_name": "Calicin", "gene_name": "CCIN", "organism": "Human", "refseq_name": "calicin", "refseq_ac": [ { "id": "NP_005884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005884", "type": "external" } ], "gene_names_uniprotkb": "CCIN", "gene_names_refseq": "BTBD20; CCIN; KBTBD14; SPGF91", "protein_names_uniprotkb": "Calicin", "protein_names_refseq": "calicin; testis tissue sperm-binding protein Li 65n", "tax_id": 9606, "disease": "spermatogenic failure 91 (Disease Ontology:DOID:0070590)", "pathway": " (hsa:881)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "29557506;31844290;31985809;32488085;33968037;36527329;36546111;7641791", "class_list": "", "function": "Required for both nuclear and acrosomal shaping during spermiogenesis., [UniProtKB, PubMed]; The protein encoded by this gene is a basic protein of the sperm head cytoskeleton. This protein contains kelch repeats and a BTB/POZ domain and is necessary for normal morphology during sperm differentiation. This gene is intronless. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BXG7", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0033150 cytoskeletal calyx;GO:0031463 Cul3-RING ubiquitin ligase complex;GO:0033011 perinuclear theca", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q13939-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32M84-1", "uniprot_id": [ { "id": "BTBDG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32M84", "type": "external" } ], "mass": 58481.0, "length": 506, "protein_name": "BTB/POZ domain-containing protein 16", "gene_name": "BTBD16", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein 16 isoform a", "refseq_ac": [ { "id": "NP_001305118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305118", "type": "external" } ], "gene_names_uniprotkb": "BTBD16; C10orf87", "gene_names_refseq": "BTBD16; C10orf87", "protein_names_uniprotkb": "BTB/POZ domain-containing protein 16", "protein_names_refseq": "BTB/POZ domain-containing protein 16 isoform a; BTB/POZ domain-containing protein 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:118663)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "19488044;29557506;30379171;35051231;35494241;39894887", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NM63;Q4VXL1;Q96LN0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q32M84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3C1V8-1", "uniprot_id": [ { "id": "BSH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3C1V8", "type": "external" } ], "mass": 25933.0, "length": 233, "protein_name": "Brain-specific homeobox protein homolog", "gene_name": "BSX", "organism": "Human", "refseq_name": "brain-specific homeobox protein homolog", "refseq_ac": [ { "id": "NP_001091639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091639", "type": "external" } ], "gene_names_uniprotkb": "BSX; BSX1", "gene_names_refseq": "BSX1; BSX", "protein_names_uniprotkb": "Brain-specific homeobox protein homolog", "protein_names_refseq": "brain-specific homeobox protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:390259)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "18855024;28228285;29242379;29557506;30315122;35249239;36010968", "class_list": "", "function": "DNA binding protein that function as transcriptional activator. Is essential for normal postnatal growth and nursing. Is an essential factor for neuronal neuropeptide Y and agouti-related peptide function and locomotory behavior in the control of energy balance (By similarity)., [UniProtKB]; Data suggest that BSX is essential for global cognitive function and that haplo-insufficiency may cause severe mental retardation, and that deletion of Neurogranin, [RefSeq, PubMed]; Genetic ablation of the Bsx homeodomain transcription factor in zebrafish: Impact on mature pineal gland morphology and circadian behavior., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0042755 eating behavior;GO:0019827 stem cell population maintenance", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q3C1V8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3MJ40-1", "uniprot_id": [ { "id": "C144B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3MJ40", "type": "external" } ], "mass": 82951.0, "length": 725, "protein_name": "Putative coiled-coil domain-containing protein 144B", "gene_name": "CCDC144BP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CCDC144BP; CCDC144B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative coiled-coil domain-containing protein 144B; Coiled-coil domain-containing protein 144B, pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P5Q3;Q8N200", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q3MJ40-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JW98-1", "uniprot_id": [ { "id": "CAHM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JW98", "type": "external" } ], "mass": 35060.0, "length": 314, "protein_name": "Calcium homeostasis modulator protein 4", "gene_name": "CALHM4", "organism": "Human", "refseq_name": "calcium homeostasis modulator protein 4 isoform a", "refseq_ac": [ { "id": "NP_001243816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243816", "type": "external" } ], "gene_names_uniprotkb": "CALHM4; C6orf78; FAM26D; PRO21277", "gene_names_refseq": "C6orf78; CALHM4; FAM26D", "protein_names_uniprotkb": "Calcium homeostasis modulator protein 4; Protein FAM26D", "protein_names_refseq": "calcium homeostasis modulator protein 4 isoform a; calcium homeostasis modulator protein 4; family with sequence similarity 26 member D; protein FAM26D", "tax_id": 9606, "disease": "", "pathway": " (hsa:221301)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;12975309;32374262;38896440", "class_list": "", "function": "May assemble to form gap junction channel-like structures involved in intercellular communication. Channel gating and ion conductance are likely regulated by membrane lipids rather than by membrane depolarization or extracellular calcium levels., [UniProtKB, PubMed]; Structural features of heteromeric channels composed of CALHM2 and CALHM4 paralogs. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0QZ25;B0QZ27;B4DTQ0;Q96MK0", "ec_number_list": [], "go_molecular_function": "GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1904669 ATP export;GO:0034220 monoatomic ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5JW98-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SZJ8-1", "uniprot_id": [ { "id": "BEND6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SZJ8", "type": "external" } ], "mass": 31222.0, "length": 279, "protein_name": "BEN domain-containing protein 6", "gene_name": "BEND6", "organism": "Human", "refseq_name": "BEN domain-containing protein 6 isoform 2", "refseq_ac": [ { "id": "NP_001305468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305468", "type": "external" } ], "gene_names_uniprotkb": "BEND6; C6orf65", "gene_names_refseq": "BEND6; C6orf65", "protein_names_uniprotkb": "BEN domain-containing protein 6", "protein_names_refseq": "BEN domain-containing protein 6 isoform 2; BEN domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:221336)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;23571214", "class_list": "", "function": "Acts as a corepressor of recombining binding protein suppressor hairless (RBPJ) and inhibits Notch signaling in neural stem cells, thereby opposing their self-renewal and promoting neurogenesis (PubMed:23571214)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4G0W8;Q8N662;Q96NS6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0045666 positive regulation of neuron differentiation;GO:0045746 negative regulation of Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5SZJ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VU69-1", "uniprot_id": [ { "id": "CP141_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VU69", "type": "external" } ], "mass": 12131.0, "length": 101, "protein_name": "Cilia- and flagella-associated protein 141", "gene_name": "CFAP141", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 141", "refseq_ac": [ { "id": "NP_001010979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010979", "type": "external" } ], "gene_names_uniprotkb": "CFAP141; C1orf189", "gene_names_refseq": "C1orf189; CFAP141", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 141", "protein_names_refseq": "cilia- and flagella-associated protein 141; protein CFAP141; uncharacterized protein C1orf189", "tax_id": 9606, "disease": "", "pathway": " (hsa:388701)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "36191189", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L4E3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5VU69-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q69YN2-1", "uniprot_id": [ { "id": "C19L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q69YN2", "type": "external" } ], "mass": 60619.0, "length": 538, "protein_name": "CWF19-like protein 1", "gene_name": "CWF19L1", "organism": "Human", "refseq_name": "CWF19-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001290333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290333", "type": "external" } ], "gene_names_uniprotkb": "CWF19L1", "gene_names_refseq": "C19L1; CWF19L1; SCAR17; hDrn1", "protein_names_uniprotkb": "CWF19-like protein 1; C19L1", "protein_names_refseq": "CWF19 like 1, cell cycle control; CWF19-like 1 cell cycle control; CWF19-like protein 1 isoform 2; CWF19-like protein 1; human Dbr1 associated ribonuclease 1", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 17 (Disease Ontology:DOID:0080064)", "pathway": " (hsa:55280)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;16385451;19773279;23301498;23477746;24714562;25361784;25418920;25576301;25645385;25671812;25802875;25880248;25892735;26154972;26728094;26992070;27862975;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29493099;29557506;29632046;29769354;30315122;30379171;30410026;30429286;30524438;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32350084;32357974;32488085;32897882;32938616;32983136;33592498;33717175;33912179;34019948;34171305;34185709;34357683;34932366;35051231;35132862;35580925;36284347;36357319;36453471;37752213;40914422", "class_list": "", "function": "CWF19L1 mutations may be a novel cause of recessive ataxia with developmental delay, [RefSeq, PubMed]; Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder. Review article, [RefSeq, PubMed]; Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17., [RefSeq, PubMed]; Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of fatty liver accumulation to hepatic inflammation., [RefSeq, PubMed]; Results of protein-protein interaction between human Dbr1 and factors found in the Intron Large complex identify Xab2 and a novel protein CWF19L1 as specific interactors of DBR1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DHX1;D3DR66;Q5W0I3;Q96HC3;Q9H865;Q9NV13", "ec_number_list": [], "go_molecular_function": "GO:0061632 RNA lariat debranching enzyme activator activity", "go_cellular_component": "GO:0071014 post-mRNA release spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q69YN2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6MZZ7-1", "uniprot_id": [ { "id": "CAN13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6MZZ7", "type": "external" } ], "mass": 76696.0, "length": 669, "protein_name": "Calpain-13", "gene_name": "CAPN13", "organism": "Human", "refseq_name": "calpain-13", "refseq_ac": [ { "id": "NP_653176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653176", "type": "external" } ], "gene_names_uniprotkb": "CAPN13", "gene_names_refseq": "CAPN13", "protein_names_uniprotkb": "Calpain-13; 3.4.22.-; CANP 13; Calcium-activated neutral proteinase 13", "protein_names_refseq": "CANP 13; calcium-activated neutral proteinase 13; calpain-13", "tax_id": 9606, "disease": "Duchenne muscular dystrophy (Disease Ontology:DOID:11723); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:92291); (R-HSA-1474228)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10229672;10386589;10706100;10809722;10986281;11237011;11375993;11675017;11872628;12727852;12843408;14973287;15234972;15591058;15958533;16133547;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18434311;18658137;19010778;19571574;19657146;19714641;20142769;20591971;21030783;21297635;21441952;21670566;21784848;21864727;22159414;23035980;23845380;24715725;29557506;32088085;34185709;35051231;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9852107", "class_list": "", "function": "Inactivating mutations of tumor suppressor genes ABCA1 and CAPN13 in colorectal cancers., [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Probable non-lysosomal thiol-protease., [UniProtKB]; The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q17RF0;Q580X1;Q8TE80", "ec_number_list": [ { "id": "3.4.22.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.53", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.22.54", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.54", "type": "external" } ], "go_molecular_function": "GO:0004198 calcium-dependent cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q6MZZ7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWJ8-1", "uniprot_id": [ { "id": "C16L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWJ8", "type": "external" } ], "mass": 18403.0, "length": 174, "protein_name": "CD164 sialomucin-like 2 protein", "gene_name": "CD164L2", "organism": "Human", "refseq_name": "CD164 sialomucin-like 2 protein isoform 2 precursor", "refseq_ac": [ { "id": "NP_997280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997280", "type": "external" } ], "gene_names_uniprotkb": "CD164L2; PRO20044", "gene_names_refseq": "CD164L2; EAPG6122; UNQ6122", "protein_names_uniprotkb": "CD164 sialomucin-like 2 protein", "protein_names_refseq": "CD164 sialomucin-like 2 protein isoform 2 precursor; CD164 sialomucin-like 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:388611)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10.1038/emboj.2013.79;12975309;15340161;22471352;23584533;32350084;35251023", "class_list": "", "function": "Found that a common variant of FCN3/CD164L2 is associated with hypertension in Chinese population., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RPJ0;Q5JXD6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6UWJ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXE8-1", "uniprot_id": [ { "id": "BTNL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXE8", "type": "external" } ], "mass": 52251.0, "length": 466, "protein_name": "Butyrophilin-like protein 3", "gene_name": "BTNL3", "organism": "Human", "refseq_name": "butyrophilin-like protein 3 precursor", "refseq_ac": [ { "id": "NP_932079", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_932079", "type": "external" } ], "gene_names_uniprotkb": "BTNL3; BTNLR; COLF4100; PRO1472", "gene_names_refseq": "BTN9.1; BTNL3; BTNLR", "protein_names_uniprotkb": "Butyrophilin-like protein 3; Butyrophilin-like receptor", "protein_names_refseq": "butyrophilin-like protein 3 precursor; butyrophilin-like protein 3; butyrophilin-like receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10917)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10429365;12975309;28904123;31154438;32375678;32983136;37634314", "class_list": "", "function": "Analysis of genomic information from multiple non-cancer cohorts showed that both the NEGR1 promoter deletion and the BTNL3-8 deletion were CNVs occurring at high frequencies in the general population. Intriguingly, the upstream NEGR1 CNV deletion was homozygous in ~ 40% of individuals in the non-cancer population. Publication Status: Online-Only, [RefSeq, PubMed]; Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q496L7;Q9Y2C7", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0045062 extrathymic T cell selection;GO:0050852 T cell receptor signaling pathway;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6UXE8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMU1-1", "uniprot_id": [ { "id": "C3P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMU1", "type": "external" } ], "mass": 40197.0, "length": 363, "protein_name": "Putative protein C3P1", "gene_name": "C3P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "C3P1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein C3P1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "29393594;29557506;32387766", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6ZMU1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZN30-1", "uniprot_id": [ { "id": "BNC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZN30", "type": "external" } ], "mass": 122330.0, "length": 1099, "protein_name": "Zinc finger protein basonuclin-2", "gene_name": "BNC2", "organism": "Human", "refseq_name": "zinc finger protein basonuclin-2 isoform 1", "refseq_ac": [ { "id": "NP_060107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060107", "type": "external" } ], "gene_names_uniprotkb": "BNC2", "gene_names_refseq": "BNC2; BSN2; LUTO; bn2", "protein_names_uniprotkb": "Zinc finger protein basonuclin-2", "protein_names_refseq": "basonuclin 2; zinc finger protein basonuclin-2 isoform 1; zinc finger protein basonuclin-2", "tax_id": 9606, "disease": "urinary tract obstruction (Disease Ontology:DOID:5200); lower urinary tract obstruction, congenital (MONDO:MONDO:0032833)", "pathway": " (hsa:54796)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;14988505;15081112;16891417;16942855;20068231;21606357;23481700;25705849;26211971;26992070;28904123;30620550;31051115;31492838;31844290;31848261;31998317;32157095;32357974;32387766;32938616;33179741;33592498;33912179;34171305;34509645;35051231;35254053;35580925;36088459;37536977;38830870;39531497", "class_list": "", "function": "A functional SNP leading to increased expression in BNC2 is implicated in the etiology of Adolescent Idiopathic Scoliosis., [RefSeq, PubMed]; BNC2 gene mutation influencing facial pigmented spots., [RefSeq, PubMed]; Basonuclin-2 regulates extracellular matrix production and degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that basonuclin (Bn)2 but not bn1 colocalizes with SC35 in nuclear speckles, and may have a function in nuclear processing of mRNA., [RefSeq, PubMed]; Functional genomics uncovers the transcription factor BNC2 as required for myofibroblastic activation in fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome., [RefSeq, PubMed]; Molecular cloning, [RefSeq, PubMed]; Probable transcription factor specific for skin keratinocytes. May play a role in the differentiation of spermatozoa and oocytes (PubMed:14988505). May also play an important role in early urinary-tract development (PubMed:31051115)., [UniProtKB, PubMed, PubMed]; The extreme conservation of the basonuclin 2 amino acid sequence across vertebrates suggests that basonuclin 2 serves an important function, presumably as a regulatory protein of DNA transcription, [RefSeq, PubMed]; This gene encodes a conserved zinc finger protein. The encoded protein functions in skin color saturation. Mutations in this gene are associated with facial pigmented spots. This gene is also associated with susceptibility to adolescent idiopathic scoliosis. [provided by RefSeq, Jul 2016]., [RefSeq]; Transcripts are initiated from six promoters, are alternatively spliced at multiple positions, and are polyadenylated at four sites, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B1APG9;Q6T3A3;Q8NAR2;Q9H6J0;Q9NXV0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000182 rDNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0001650 fibrillar center;GO:0016604 nuclear body;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q6ZN30-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7F0-1", "uniprot_id": [ { "id": "KHDC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7F0", "type": "external" } ], "mass": 64845.0, "length": 614, "protein_name": "KH homology domain-containing protein 4", "gene_name": "KHDC4", "organism": "Human", "refseq_name": "KH homology domain-containing protein 4", "refseq_ac": [ { "id": "NP_055764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055764", "type": "external" } ], "gene_names_uniprotkb": "KHDC4; BLOM7; KIAA0907; SNORA80EHG", "gene_names_refseq": "BLOM7; KHDC4; KIAA0907; SNORA80EHG", "protein_names_uniprotkb": "KH homology domain-containing protein 4; Brings lots of money 7; Pre-mRNA splicing factor protein KHDC4", "protein_names_refseq": "KH homology domain-containing protein 4; brings lots of money 7; pre-mRNA splicing factor protein KHDC4; protein BLOM7", "tax_id": 9606, "disease": "", "pathway": " (hsa:22889)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "18669648;19641227;19651622;19690332;20068231;23144703;24715725;25576301;25645385;25892735;26154972;26992070;27846572;27862975;27920218;28514659;28832583;28904123;29242379;29393594;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30524438;30779550;31154438;31844290;31848261;32157095;32265295;32357974;32387766;32897882;32938616;33214551;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34019948;34185709;34509645;34561969;35051231;35318648;35561310;35580925;36010968;36284347;36581221;37938771;38665916", "class_list": "", "function": "Blom7alpha is a novel heterogeneous nuclear ribonucleoprotein K homology domain protein involved in pre-mRNA splicing and interacting with the CDC5L-SNEV(Prp19-Pso4) complex., [RefSeq, PubMed]; RNA-binding protein involved in pre-mRNA splicing (PubMed:19641227). Interacts with the PRP19C/Prp19 complex/NTC/Nineteen complex which is part of the spliceosome (PubMed:19641227). Involved in regulating splice site selection (PubMed:19641227). Binds preferentially RNA with A/C rich sequences and poly-C stretches (PubMed:23144703)., [UniProtKB, PubMed, PubMed]; Results suggest that the RNA binding activity of Blom7alpha might be required for pre-mRNA splicing catalysis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O94981;Q7L7Q2;Q7Z7E9;Q8TBQ0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006376 mRNA splice site recognition", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q7Z7F0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y28-1", "uniprot_id": [ { "id": "BAGE4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y28", "type": "external" } ], "mass": 4230.0, "length": 39, "protein_name": "B melanoma antigen 4", "gene_name": "BAGE4", "organism": "Human", "refseq_name": "B melanoma antigen 4 precursor", "refseq_ac": [ { "id": "NP_859055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_859055", "type": "external" } ], "gene_names_uniprotkb": "BAGE4; MLL3P", "gene_names_refseq": "BAGE4; CT2.4; MLL3P", "protein_names_uniprotkb": "B melanoma antigen 4; CT2.4; Cancer/testis antigen 2.4", "protein_names_refseq": "B melanoma antigen 4 precursor; B melanoma antigen 4; B melanoma antigen family member 4; MLL3 pseudogene; cancer/testis antigen 2.4; cancer/testis antigen family 2, member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:85317)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Unknown. Candidate gene encoding tumor antigens., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q86Y28-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Z23-1", "uniprot_id": [ { "id": "C1QL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Z23", "type": "external" } ], "mass": 24909.0, "length": 238, "protein_name": "Complement C1q-like protein 4", "gene_name": "C1QL4", "organism": "Human", "refseq_name": "complement C1q-like protein 4 precursor", "refseq_ac": [ { "id": "NP_001008224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008224", "type": "external" } ], "gene_names_uniprotkb": "C1QL4; CTRP11", "gene_names_refseq": "C1QL4; C1QTNF11; CTRP11", "protein_names_uniprotkb": "Complement C1q-like protein 4; C1q and tumor necrosis factor-related protein 11; C1q/TNF-related protein 11", "protein_names_refseq": "C1q and tumor necrosis factor-related protein 11; C1q/TNF-related protein 11; complement C1q-like protein 4 precursor; complement C1q-like protein 4; complement component 1, q subcomponent like 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:338761)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;23449976;31844290;32157095;33592498;35051231", "class_list": "", "function": "May regulate the number of excitatory synapses that are formed on hippocampus neurons. Has no effect on inhibitory synapses (By similarity). May inhibit adipocyte differentiation at an early stage of the process (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0045202 synapse;GO:0043083 synaptic cleft;GO:0005576 extracellular region", "go_biological_process": "GO:0099558 maintenance of synapse structure;GO:0099550 trans-synaptic signaling, modulating synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q86Z23-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8ND23-1", "uniprot_id": [ { "id": "CARL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8ND23", "type": "external" } ], "mass": 150230.0, "length": 1372, "protein_name": "Capping protein, Arp2/3 and myosin-I linker protein 3", "gene_name": "CARMIL3", "organism": "Human", "refseq_name": "capping protein, Arp2/3 and myosin-I linker protein 3", "refseq_ac": [ { "id": "NP_612369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612369", "type": "external" } ], "gene_names_uniprotkb": "CARMIL3; C14orf121; LRRC16B", "gene_names_refseq": "C14orf121; CARMIL3; LRRC16B; crml-1", "protein_names_uniprotkb": "Capping protein, Arp2/3 and myosin-I linker protein 3; Capping protein regulator and myosin 1 linker protein 3; Leucine-rich repeat-containing protein 16B", "protein_names_refseq": "capping protein regulator and myosin 1 linker protein 3; capping protein, Arp2/3 and myosin-I linker protein 3; leucine rich repeat containing 16B; leucine-rich repeat-containing protein 16B", "tax_id": 9606, "disease": "", "pathway": " (hsa:90668)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "19846667;21102520;23481700;26578515;28228285;31092671;31154438;31694931;32387766;32938616;33298915;33392160;33968037;35051231;35580925;36215666", "class_list": "", "function": "A novel oncofetal-like gene, LRRC16B, was indentified., [RefSeq, PubMed]; Capping Protein Regulator and Myosin 1 Linker 3 Is Required for Tumor Metastasis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8TEF7;Q96HS9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0098794 postsynapse", "go_biological_process": "GO:0016477 cell migration;GO:0034315 regulation of Arp2/3 complex-mediated actin nucleation;GO:0150052 regulation of postsynapse assembly", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8ND23-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55210-1", "uniprot_id": [ { "id": "CASP7_HUMAN", "url": "https://www.uniprot.org/uniprot/P55210", "type": "external" } ], "mass": 34277.0, "length": 303, "protein_name": "Caspase-7", "gene_name": "CASP7", "organism": "Human", "refseq_name": "caspase-7 isoform alpha precursor", "refseq_ac": [ { "id": "NP_001218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001218", "type": "external" } ], "gene_names_uniprotkb": "CASP7; MCH3", "gene_names_refseq": "CASP-7; CASP7; CMH-1; ICE-LAP3; LICE2; MCH3", "protein_names_uniprotkb": "Caspase-7; 3.4.22.60; Apoptotic protease Mch-3; CASP-7; CMH-1; ICE-LAP3; ICE-like apoptotic protease 3", "protein_names_refseq": "ICE-like apoptotic protease 3; apoptotic protease MCH-3; caspase 7, apoptosis-related cysteine peptidase; caspase 7, apoptosis-related cysteine protease; caspase-7 isoform alpha precursor", "tax_id": 9606, "disease": "endometritis (Disease Ontology:DOID:1002); Alzheimer's disease (Disease Ontology:DOID:10652); sciatic neuropathy (Disease Ontology:DOID:11446); breast cancer (Disease Ontology:DOID:1612); colon cancer (Disease Ontology:DOID:219); transient cerebral ischemia (Disease Ontology:DOID:224); lung non-small cell carcinoma (Disease Ontology:DOID:3908); ureteral obstruction (Disease Ontology:DOID:5199); rheumatoid arthritis (Disease Ontology:DOID:7148); type 2 diabetes mellitus (Disease Ontology:DOID:9352); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:840); (R-HSA-111459); (R-HSA-111463); (R-HSA-111464); (R-HSA-111465); (R-HSA-111469); (R-HSA-264870)", "pathway_count": 7, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;10200466;10206961;10453075;10469173;10490026;10497198;10564664;10821855;10823823;10891503;10899937;10929711;10972280;11084335;11106668;11140638;11230124;11237011;11242052;11257230;11257231;11278797;11313965;11423904;11463840;11689006;11701129;11741893;11752425;12107159;12660240;12668660;12824163;12874265;12941691;14960576;15200957;15314233;15650747;16123041;16352606;16374543;16916640;16983089;17297457;17646170;17697120;18521960;18619610;18723680;19054851;19413330;19581639;19617626;20159985;20566630;21157428;21555521;21695558;21949740;22184066;22223895;22451931;22464733;23186163;23650375;23897474;24407236;24556848;24779913;26045166;27032039;27889207;28228285;28863261;28904123;29557506;30315122;30410026;30455355;30833945;31154438;31217245;31586028;31844290;32357974;32488085;32938616;33298915;33537174;33936100;34156061;34171305;34185709;35338844;35446120;36010968;36758104;36758106;37074911;37209562;7489707;8521391;8567622;8576161;8643593;8755496;8976194;9070923;9230442;9252332;9323209;9325343;9390557;9431985;9624143;9852092;9922454;9930654;9973322", "class_list": "", "function": "Characterization of caspase-7 interaction with RNA., [RefSeq, PubMed]; Lacks enzymatic activity., [UniProtKB, PubMed]; TLR2 and CASP7 as the biomarkers associated with non-alcoholic fatty liver disease and chronic kidney disease., [RefSeq, PubMed]; Thiol protease involved in different programmed cell death processes, such as apoptosis, pyroptosis or granzyme-mediated programmed cell death, by proteolytically cleaving target proteins (PubMed:11257230, PubMed:11257231, PubMed:11701129, PubMed:15314233, PubMed:16916640, PubMed:17646170, PubMed:18723680, PubMed:19581639, PubMed:8521391, PubMed:8567622, PubMed:8576161, PubMed:9070923). Has a marked preference for Asp-Glu-Val-Asp (DEVD) consensus sequences, with some plasticity for alternate non-canonical sequences (PubMed:12824163, PubMed:15314233, PubMed:17697120, PubMed:19581639, PubMed:20566630, PubMed:23650375, PubMed:23897474, PubMed:27032039). Its involvement in the different programmed cell death processes is probably determined by upstream proteases that activate CASP7 (By similarity). Acts as an effector caspase involved in the execution phase of apoptosis: following cleavage and activation by initiator caspases (CASP8, CASP9 and/or CASP10), mediates execution of apoptosis by catalyzing cleavage of proteins, such as CLSPN, PARP1, PTGES3 and YY1 (PubMed:10497198, PubMed:16123041, PubMed:16374543, PubMed:16916640, PubMed:18723680, PubMed:20566630, PubMed:21555521, PubMed:22184066, PubMed:22451931, PubMed:27889207, PubMed:28863261, PubMed:31586028, PubMed:34156061, PubMed:35338844, PubMed:35446120). Compared to CASP3, acts as a minor executioner caspase and cleaves a limited set of target proteins (PubMed:18723680). Acts as a key regulator of the inflammatory response in response to bacterial infection by catalyzing cleavage and activation of the sphingomyelin phosphodiesterase SMPD1 in the extracellular milieu, thereby promoting membrane repair (PubMed:21157428). Regulates pyroptosis in intestinal epithelial cells: cleaved and activated by CASP1 in response to S.typhimurium infection, promoting its secretion to the extracellular milieu, where it catalyzes activation of SMPD1, generating ceramides that repair membranes and counteract the action of gasdermin-D (GSDMD) pores (By similarity). Regulates granzyme-mediated programmed cell death in hepatocytes: cleaved and activated by granzyme B (GZMB) in response to bacterial infection, promoting its secretion to the extracellular milieu, where it catalyzes activation of SMPD1, generating ceramides that repair membranes and counteract the action of perforin (PRF1) pores (By similarity). Following cleavage by CASP1 in response to inflammasome activation, catalyzes processing and inactivation of PARP1, alleviating the transcription repressor activity of PARP1 (PubMed:22464733). Acts as an inhibitor of type I interferon production during virus-induced apoptosis by mediating cleavage of antiviral proteins CGAS, IRF3 and MAVS, thereby preventing cytokine overproduction (By similarity). Cleaves and activates sterol regulatory element binding proteins (SREBPs) (PubMed:8643593). Cleaves phospholipid scramblase proteins XKR4, XKR8 and XKR9 (By similarity). In case of infection, catalyzes cleavage of Kaposi sarcoma-associated herpesvirus protein ORF57, thereby preventing expression of viral lytic genes (PubMed:20159985). Cleaves BIRC6 following inhibition of BIRC6-caspase binding by DIABLO/SMAC (PubMed:36758104, PubMed:36758106)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 12, "reported_mutagensis": 39, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 9437, "biomarker_type": "", "glycan_count": 9, "disease_count": 11, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DQU7;B5BU45;D3DRB8;Q13364;Q53YD5;Q5SVL0;Q5SVL3;Q96BA0", "ec_number_list": [ { "id": "3.4.22.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.56", "type": "external" }, { "id": "3.4.22.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.60", "type": "external" }, { "id": "3.4.22.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.62", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008233 peptidase activity;GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity;GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0006915 apoptotic process;GO:0071222 cellular response to lipopolysaccharide;GO:0097194 execution phase of apoptosis;GO:0043525 positive regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P55210-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06126-1", "uniprot_id": [ { "id": "CD1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P06126", "type": "external" } ], "mass": 37077.0, "length": 327, "protein_name": "T-cell surface glycoprotein CD1a", "gene_name": "CD1A", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD1a isoform 2", "refseq_ac": [ { "id": "NP_001307581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307581", "type": "external" } ], "gene_names_uniprotkb": "CD1A", "gene_names_refseq": "CD1A; CD1; FCB6; HTA1; R4; T6", "protein_names_uniprotkb": "T-cell surface glycoprotein CD1a; T-cell surface antigen T6/Leu-6; hTa1 thymocyte antigen", "protein_names_refseq": "CD1A antigen, a polypeptide; T-cell surface antigen T6/Leu-6; T-cell surface glycoprotein CD1a isoform 2; T-cell surface glycoprotein CD1a; cluster of differentiation 1 A; cortical thymocyte antigen CD1A; epidermal dendritic cell marker CD1a; hTa1 thymocyte antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:909); (R-HSA-198933)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10488738;10499918;10746781;11231314;11265639;11489943;11513152;11556966;11600221;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12833155;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15723809;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16272286;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18178838;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;2447586;25642819;25703557;25716998;26284469;26300885;2701945;2784820;3093894;3097645;32983136;33043033;35051231;36215666;36284347;37951348;38173286;38287771;38579449;38585273;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Antigen-presenting protein that binds self and non-self lipid and glycolipid antigens and presents them to T-cell receptors on natural killer T-cells., [UniProtKB, PubMed, PubMed, PubMed]; CD1 molecules: Beyond antigen presentation. Review article, [RefSeq, PubMed]; CD1a and skin T cells: a pathway for therapeutic intervention. Review article, [RefSeq, PubMed]; Human Skin T Cells Express Conserved T-Cell Receptors that Cross-React with Staphylococcal Superantigens and CD1a., [RefSeq, PubMed]; Keratinocyte-derived small extracellular vesicles supply antigens for CD1a-resticted T cells and promote their type 2 bias in the context of filaggrin insufficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Oral lupus erythematosus: Immunohistochemical evaluation of CD1a, CD21, CD123, and langerin expression in dendritic cells., [RefSeq, PubMed]; This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DVD7;Q13962;Q5TDJ8;Q9UMM4;Q9Y5M5", "ec_number_list": [], "go_molecular_function": "GO:0030883 endogenous lipid antigen binding;GO:0030884 exogenous lipid antigen binding;GO:0071723 lipopeptide binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0009897 external side of plasma membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response;GO:0001916 positive regulation of T cell mediated cytotoxicity;GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib;GO:0048006 antigen processing and presentation, endogenous lipid antigen via MHC class Ib", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P06126-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16630-1", "uniprot_id": [ { "id": "CPSF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16630", "type": "external" } ], "mass": 59210.0, "length": 551, "protein_name": "Cleavage and polyadenylation specificity factor subunit 6", "gene_name": "CPSF6", "organism": "Human", "refseq_name": "cleavage and polyadenylation specificity factor subunit 6 isoform 2", "refseq_ac": [ { "id": "NP_001287876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287876", "type": "external" } ], "gene_names_uniprotkb": "CPSF6; CFIM68", "gene_names_refseq": "CFIM68; CFIM72; CFIM; CPSF6; HPBRII-4; HPBRII-7", "protein_names_uniprotkb": "Cleavage and polyadenylation specificity factor subunit 6; CFIm68; CPSF 68 kDa subunit; Cleavage and polyadenylation specificity factor 68 kDa subunit; Cleavage factor Im complex 68 kDa subunit; Pre-mRNA cleavage factor Im 68 kDa subunit; Protein HPBRII-4/7", "protein_names_refseq": "CPSF 68 kDa subunit; cleavage and polyadenylation specific factor 6, 68kDa; cleavage and polyadenylation specificity factor 68 kDa subunit; cleavage and polyadenylation specificity factor subunit 6 isoform 2; cleavage and polyadenylation specificity factor subunit 6; cleavage factor Im complex 68 kDa subunit; pre-mRNA cleavage factor I, 68kD subunit; pre-mRNA cleavage factor Im (68kD); pre-mRNA cleavage factor Im 68 kDa subunit; protein HPBRII-4/7", "tax_id": 9606, "disease": "", "pathway": " (hsa:11052); (R-HSA-1839117); (R-HSA-5655302)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10480903;10579907;10652257;10688839;10887137;10918587;10935490;11157491;11237011;11429702;11689702;11739186;12124177;12393597;14534538;14561889;14660670;14690600;15034873;15050920;15169763;15448205;15609342;15800673;16091734;16844695;16946300;17081983;17267687;17505008;17525332;17533378;17698633;18205209;18220336;18337450;18373495;18381441;18412956;18452278;18552176;18669648;18757403;19103595;19147536;19369959;19381019;19651622;19664995;19690332;19749790;19809159;19864460;19874848;19946327;20058876;20068231;20094046;20179196;20226962;20562214;20695905;20709759;21160078;21295486;21330321;21666749;21711248;23186163;23187700;24130490;25645385;28832583;28904123;29242379;29276085;29493099;29507755;29557506;30916345;31154438;31844290;31848261;32119511;32157095;32161166;32350084;32488085;32502341;32938616;32983136;33214551;33592498;33912179;33936100;33968037;34019948;34185709;34561969;35051231;35251023;35580925;36010968;37217939;37777964;38416782;38665916;38793552;40914422;8626397;9425908;9576949;9659921;9716603;9857065;9949182", "class_list": "", "function": "(Microbial infection) Binds HIV-1 capsid-nucleocapsid (HIV-1 CA-NC) complexes and might thereby promote the integration of the virus in the nucleus of dividing cells (in vitro)., [UniProtKB, PubMed]; CPSF6 regulates alternative polyadenylation and proliferation of cancer cells through phase separation., [RefSeq, PubMed]; Component of the cleavage factor Im (CFIm) complex that functions as an activator of the pre-mRNA 3'-end cleavage and polyadenylation processing required for the maturation of pre-mRNA into functional mRNAs (PubMed:14690600, PubMed:29276085, PubMed:8626397, PubMed:9659921). CFIm contributes to the recruitment of multiprotein complexes on specific sequences on the pre-mRNA 3'-end, so called cleavage and polyadenylation signals (pA signals) (PubMed:14690600, PubMed:8626397, PubMed:9659921). Most pre-mRNAs contain multiple pA signals, resulting in alternative cleavage and polyadenylation (APA) producing mRNAs with variable 3'-end formation (PubMed:23187700, PubMed:29276085). The CFIm complex acts as a key regulator of cleavage and polyadenylation site choice during APA through its binding to 5'-UGUA-3' elements localized in the 3'-untranslated region (UTR) for a huge number of pre-mRNAs (PubMed:20695905, PubMed:29276085). CPSF6 enhances NUDT21/CPSF5 binding to 5'-UGUA-3' elements localized upstream of pA signals and promotes RNA looping, and hence activates directly the mRNA 3'-processing machinery (PubMed:15169763, PubMed:21295486, PubMed:29276085). Plays a role in mRNA export (PubMed:19864460)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Data show that cleavage factor I(m) can stimulate both cleavage and poly(adenine) addition, and can act to suppress poly(A) site cleavage in a sequence-dependent manner. GeneRIF: Elevated levels of human cleavage factor Im suppressed cleavage at the primary poly(A) site of the pre-mRNA encoding the 68 kDa subunit of CFI(m)., [RefSeq, PubMed]; Downregulation of CPSF6 leads to global mRNA 3' UTR shortening and enhanced antiviral immune responses. Publication Status: Online-Only, [RefSeq, PubMed]; HIV-1 Capsid Rapidly Induces Long-Lived CPSF6 Puncta in Non-Dividing Cells, but Similar Puncta Already Exist in Uninfected T-Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Region in the subunit of CF I(m) involved in RNA binding, protein-protein interactions, and subcellular localization, [RefSeq, PubMed]; The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. The cleavage factor complex is composed of four polypeptides. This gene encodes the 68kD subunit. It has a domain organization reminiscent of spliceosomal proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7K9;Q53ES1;Q9BSJ7;Q9BW18", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0043023 ribosomal large subunit binding;GO:1990448 exon-exon junction complex binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005726 perichromatin fibrils;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0046833 positive regulation of RNA export from nucleus;GO:0006397 mRNA processing;GO:0051262 protein tetramerization;GO:0051290 protein heterotetramerization;GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q16630-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15629-1", "uniprot_id": [ { "id": "TRAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15629", "type": "external" } ], "mass": 43072.0, "length": 374, "protein_name": "Translocating chain-associated membrane protein 1", "gene_name": "TRAM1", "organism": "Human", "refseq_name": "translocating chain-associated membrane protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001304733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304733", "type": "external" } ], "gene_names_uniprotkb": "TRAM1; TRAM", "gene_names_refseq": "PNAS8; TRAM1; TRAMP; TRAM", "protein_names_uniprotkb": "Translocating chain-associated membrane protein 1; Protein TRAM1", "protein_names_refseq": "translocating chain-associated membrane protein 1 isoform 2; translocating chain-associated membrane protein 1; translocating chain-associating membrane protein; translocation-associating membrane protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23471); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11964406;12475939;12853463;1315422;16469117;16565220;17081983;18166647;18452278;18455985;18669648;18691976;19121997;19413330;19651622;19690332;20068231;20430023;20444697;23186163;23481700;24715725;25576301;25600807;25645385;25892735;26154972;26992070;27846572;28904123;29437277;29493099;29557506;29741879;30410026;31217245;31611695;31844290;32013668;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34509645;34561969;34764360;34793833;34932366;35051231;35083852;35154160;35318648;35580925;36010968;36241641;36284347;37217939;37768083;37938771;38665916;8616892;9506517;9631292", "class_list": "", "function": "(Microbial infection) In case of cytomegalovirus infection, participates in US2- and US11-mediated ER-to-cytosol retrotranslocation and subsequent degradation of major histocompatibility complex (MHC) class I heavy chains, thereby decreasing the immune detection by cytotoxic T-cells., [UniProtKB, PubMed]; Identification of TRAMs as sphingolipid-binding proteins using a photoactivatable and clickable short-chain ceramide analog., [RefSeq, PubMed]; Involved in the translocation of nascent protein chains into or through the endoplasmic reticulum (ER) membrane by facilitating the proper chain positioning at the SEC61 channel (PubMed:12475939, PubMed:1315422, PubMed:32013668, PubMed:8616892, PubMed:9506517). Regulates the exposure of nascent secretory protein chain to the cytosol during translocation into the ER (PubMed:9506517). May affect the phospholipid bilayer in the vicinity of the lateral gate of the SEC61 channel, thereby facilitating ER protein transport (PubMed:32013668). Intimately associates with transmembrane (TM) domain of nascent membrane proteins during the entire integration process into the ER membrane (PubMed:8616892). Associates with the second TM domain of G protein-coupled receptor opsin/OPSD nascent chain in the ER membrane, which may facilitate its integration into the membrane (PubMed:12475939). Under conditions of ER stress, participates in the disposal of misfolded ER membrane proteins during the unfolded protein response (UPR), an integrated stress response (ISR) pathway, by selectively retrotranslocating misfolded ER-membrane proteins from the ER into the cytosol where they are ubiquitinated and degraded by the proteasome (PubMed:20430023)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TRAM1 protect HepG2 cells from palmitate-induced insulin resistance. The protection of TRAM1 to HepG2 cells is through endoplasmic reticulum stress-JNK pathway., [RefSeq, PubMed]; The REEP5/TRAM1 complex binds SARS-CoV-2 NSP3 and promotes virus replication., [RefSeq, PubMed]; The human TRAM1 locus expresses circular RNAs. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E0K2", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045048 protein insertion into ER membrane;GO:0006613 cotranslational protein targeting to membrane;GO:0006986 response to unfolded protein;GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q15629-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01189-1", "uniprot_id": [ { "id": "COLI_HUMAN", "url": "https://www.uniprot.org/uniprot/P01189", "type": "external" } ], "mass": 29424.0, "length": 267, "protein_name": "Pro-opiomelanocortin", "gene_name": "POMC", "organism": "Human", "refseq_name": "pro-opiomelanocortin preproprotein", "refseq_ac": [ { "id": "NP_000930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000930", "type": "external" } ], "gene_names_uniprotkb": "POMC", "gene_names_refseq": "ACTH; CLIP; LPH; MSH; NPP; OBAIRH; POC; POMC", "protein_names_uniprotkb": "Pro-opiomelanocortin; ACTH; Adrenocorticotropic hormone; Beta-LPH; Corticotropin-lipotropin; Gamma-LPH; Gamma-MSH; Melanotropin alpha; Melanotropin beta; POMC", "protein_names_refseq": "adrenocorticotropic hormone; adrenocorticotropin; alpha-MSH; alpha-melanocyte-stimulating hormone; beta-LPH; beta-MSH; beta-endorphin; beta-melanocyte-stimulating hormone; corticotropin-like intermediary peptide; corticotropin-lipotropin; gamma-LPH; gamma-MSH; lipotropin beta; lipotropin gamma; melanotropin alpha; melanotropin beta; melanotropin gamma; met-enkephalin; opiomelanocortin prepropeptide; pro-ACTH-endorphin; pro-opiomelanocortin preproprotein; proopiomelanocortin preproprotein", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); early-onset obesity, adrenal insufficiency, and red hair (Disease Ontology:DOID:0051068); Wernicke-Korsakoff syndrome (Disease Ontology:DOID:10915); hyperandrogenism (Disease Ontology:DOID:11613); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); anxiety disorder (Disease Ontology:DOID:2030); opiate dependence (Disease Ontology:DOID:2559); morphine dependence (Disease Ontology:DOID:2560); severe acute respiratory syndrome (Disease Ontology:DOID:2945); familial Mediterranean fever (Disease Ontology:DOID:2987); osteoarthritis (Disease Ontology:DOID:8398); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:5443); (R-HSA-111885); (R-HSA-193048); (R-HSA-194002); (R-HSA-202040); (R-HSA-209952); (R-HSA-211976); (R-HSA-375276); (R-HSA-418555); (R-HSA-418594); (R-HSA-5579031); (R-HSA-6785807); (R-HSA-9615017); (R-HSA-9856649)", "pathway_count": 14, "publication_count": 393, "publication_id_list": "10023775;10079109;10100623;10102273;10193875;10215864;10217147;10219247;10358014;10369418;10381885;10403794;10406467;10421367;10421368;10438732;10461880;10480625;10498338;10499587;10510379;10567402;10586089;10588945;10604470;10611221;10655586;10673502;10854085;10867011;10899166;10913147;11007482;11027551;11058569;11084045;11104795;11120780;11237011;11244459;11278437;11278729;11322507;11356008;11385580;11404481;11457843;11463377;11555828;11562423;11683476;11773063;11779849;11786497;11840323;11891324;11912130;11930005;11960372;12036966;12058044;12106601;12120503;12165561;12180353;12223527;12239572;12242343;12427552;12540846;12600988;1264228;12719537;1279965;1280419;12832402;12832414;12860470;12887283;12956774;1314587;1317848;1325670;1337145;1346068;13549488;14463577;14550283;14557433;14573733;14634100;14671004;14712222;14975237;15042513;15116091;15118077;15139756;1517224;15226305;15261459;15272312;15340161;15507434;15539556;15584925;1567413;15765929;15769620;15805299;15869882;15947423;15950906;15951850;16007214;16014379;16034366;16046320;16048438;16107692;16205632;16236134;16313925;16397018;16415903;16451196;16510571;16540365;1655761;16606674;16634148;16682505;16687412;16783365;16807684;16822840;16840535;16892066;16923326;1698554;1708392;1710450;1710578;1712709;17168849;1719979;1722333;1741400;17427945;17458857;1748288;17572495;17623675;17986282;18044684;18127230;18243101;18318566;18353781;18434541;18447642;1847994;18577758;18644867;18644974;1885595;19105585;19124156;19185846;19397496;1944309;1944596;19524539;195688;19608861;19661213;19876791;19879888;19929708;19936164;20149798;20381629;20460180;20493732;21036126;21102457;21252155;21486943;21536589;2163110;21636783;21689689;21730069;2178253;21937440;21965087;2197970;21994466;22046235;22205702;22383755;2243100;2256920;22647378;22693070;22772592;22851691;23086340;23124025;23159739;23172665;23190890;23207919;2339109;23446738;23455323;23555662;23690594;23719902;23967200;24028821;24040102;24097101;2417744;2424570;24687066;24743777;24906252;2491850;25234944;25248477;2534550;2534964;2553411;2553705;25595898;2592361;25961201;26417854;2649896;27128622;2748346;27496565;27547294;2770297;2834384;2839146;28394346;2871555;2889032;29295999;29443750;29602314;3024157;3038528;30804224;30833991;3127824;31279028;31399091;31983287;3202875;3207614;32226383;32497535;32540603;32618402;32636443;32715661;3299377;33049737;3366244;33744299;34140478;3487786;3525564;3606677;37770430;3783591;38418395;3856870;39484290;4334191;4338630;4347148;4352834;5338216;6085243;6254047;6267033;6272808;6274691;6281660;6299668;6305972;6314261;6373251;6589611;6945581;7057924;7195404;7510216;7512451;7524088;7529288;7590751;7592910;7592911;7624359;7795521;7796300;7797512;7828531;7898939;7905839;7907877;7937899;7958932;8015379;8035319;8062389;8063797;8073283;8075637;8085155;8185599;8201839;8208289;8248172;8294032;8336698;8340388;8373420;8381365;8383682;8392067;8395824;8396929;8406495;8440682;8463333;8503909;8514797;8521505;8547185;8602263;8615752;8619637;8621622;8636348;8663118;8666380;8668165;8672451;8702752;873923;8797861;8816495;8823230;9013879;9171878;9199364;9207799;9208814;9263355;9353119;9417641;9440696;9521323;9530155;9536209;9544801;9560246;9578606;9593744;9607765;9620771;9651336;9651359;9676189;9685625;9722565;9723655;9736340;9760192;9768693;9792798;9822675;9832121;9851594;9871428;9874564;9973413", "class_list": "", "function": "Endogenous opiate., [UniProtKB]; Endogenous orexigenic opiate., [UniProtKB]; Fluctuations in serum adrenocorticotropic hormone concentration may predict the onset of immune checkpoint inhibitor-related hypophysitis. Erratum:[J Immunother Cancer. 2024 Mar 29;12(3):e008634corr1. doi: 10.1136/jitc-2023-008634corr1. PMID: 38553010] Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a ligand for the melanocortin receptors MC1R, MC2R, MC3R and MC5R (PubMed:8396929, PubMed:8463333, PubMed:8636348). Activation of MC1R increases melanogenesis in melanocytes found in the skin and hair (PubMed:9620771). Binding to MC2R stimulates the adrenal glands to secrete cortisol (PubMed:8636348). Contributes to the regulation of energy homeostasis through activation of MC3R (Probable). Involved in the regulation exocrine gland function through MC5R activation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Functions as a ligand for the melanocortin receptors MC1R, MC3R, MC4R and MC5R (PubMed:8396929, PubMed:8463333). Activation of MC1R increases melanogenesis in melanocytes found in the skin and hair (Probable). Contributes to the regulation of energy homeostasis through activation of MC3R (Probable). Through MC4R activation, functions as an anorexigenic peptide (PubMed:8392067). Involved in the regulation exocrine gland function through MC5R activation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Genetic Variations in AMPK, FOXO3A, and POMC Increase the Risk of Extreme Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; POMC has become a paradigmatic polypeptide precursor model illustrating the variable roles of a single gene and its various products in different localities--review Review article, [RefSeq, PubMed]; Precursor protein of pituitary hormones that are involved in diverse physiological processes, including the regulation of energy balance, stress response, immune function and skin pigmentation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Serves as a ligand for the melanocortin receptors MC1R, MC3R, MC4R and MC5R (PubMed:8392067, PubMed:8396929, PubMed:8463333). Activation of MC1R promotes melanogenesis in melanocytes of the skin and hair (PubMed:10403794, PubMed:9620771). Contributes to the regulation of energy homeostasis through activation of MC3R (Probable). Through MC4R activation, functions as an anorexigenic peptide (PubMed:8392067). Promotes immunosuppression and involved in the regulation exocrine gland function through MC5R activation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P78442;Q53T23;Q9UD39;Q9UD40", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0001664 G protein-coupled receptor binding;GO:0005179 hormone activity;GO:0031781 type 3 melanocortin receptor binding;GO:0031782 type 4 melanocortin receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0030141 secretory granule;GO:0034774 secretory granule lumen", "go_biological_process": "GO:0006091 generation of precursor metabolites and energy;GO:0007165 signal transduction;GO:0007218 neuropeptide signaling pathway;GO:0007267 cell-cell signaling;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 39.5, "record_id": "P01189-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCU1-1", "uniprot_id": [ { "id": "CC197_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCU1", "type": "external" } ], "mass": 16081.0, "length": 143, "protein_name": "Uncharacterized protein CCDC197", "gene_name": "CCDC197", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CCDC197; C14orf48; LINC00521", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein CCDC197; Coiled-coil domain-containing protein 197", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:256369)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A1B0GVF2;Q8N7S1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8NCU1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6L1-1", "uniprot_id": [ { "id": "TCPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6L1", "type": "external" } ], "mass": 129696.0, "length": 1165, "protein_name": "Tectonin beta-propeller repeat-containing protein 1", "gene_name": "TECPR1", "organism": "Human", "refseq_name": "tectonin beta-propeller repeat-containing protein 1", "refseq_ac": [ { "id": "NP_056210", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056210", "type": "external" } ], "gene_names_uniprotkb": "TECPR1; KIAA1358", "gene_names_refseq": "TECPR1", "protein_names_uniprotkb": "Tectonin beta-propeller repeat-containing protein 1", "protein_names_refseq": "tectonin beta-propeller repeat-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25851)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18669648;21575909;22342342;23481700;25418920;26154972;26992070;28218747;28228285;28832583;28834231;29242379;29351928;29393594;29437277;29493099;29508533;29632046;29632711;30315122;30379171;30779550;31217245;31844290;32157095;32350084;32938616;33298915;33912179;33968037;33981976;34171305;34932366;35051231;35494241;35580925;36010968;36197771;36241641;37409525", "class_list": "", "function": "TECPR1 Induces Apoptosis in Non-Small Cell Lung Carcinoma via ATG5 Upregulation-Induced Autophagy Promotion., [RefSeq, PubMed]; TECPR1 is activated by damage-induced sphingomyelin exposure to mediate noncanonical autophagy., [RefSeq, PubMed]; Tethering factor involved in autophagy. Involved in autophagosome maturation by promoting the autophagosome fusion with lysosomes: acts by associating with both the ATG5-ATG12 conjugate and phosphatidylinositol-3-phosphate (PtdIns(3)P) present at the surface of autophagosomes. Also involved in selective autophagy against bacterial pathogens, by being required for phagophore/preautophagosomal structure biogenesis and maturation., [UniProtKB, PubMed, PubMed]; The concerted interactions among TECPR1, Atg12-Atg5, and PtdIns(3)P provide the fusion specificity between autophagosomes and lysosomes and that the assembly of this complex initiates the autophagosome maturation process., [RefSeq, PubMed]; This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8KAD1;B3KPZ1;C9J024;F5GX57;Q96EB0;Q9P2I9;Q9UFR6", "ec_number_list": [], "go_molecular_function": "GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005765 lysosomal membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0016236 macroautophagy;GO:0006914 autophagy;GO:1901096 regulation of autophagosome maturation", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q7Z6L1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13535-1", "uniprot_id": [ { "id": "ATR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13535", "type": "external" } ], "mass": 301367.0, "length": 2644, "protein_name": "Serine/threonine-protein kinase ATR", "gene_name": "ATR", "organism": "Human", "refseq_name": "serine/threonine-protein kinase ATR isoform 1", "refseq_ac": [ { "id": "NP_001175", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001175", "type": "external" } ], "gene_names_uniprotkb": "ATR; FRP1", "gene_names_refseq": "ATR; FCTCS; FRP1; MEC1; SCKL1; SCKL", "protein_names_uniprotkb": "Serine/threonine-protein kinase ATR; 2.7.11.1; Ataxia telangiectasia and Rad3-related protein; FRAP-related protein 1", "protein_names_refseq": "ATR serine/threonine kinase; FRAP-related protein-1; MEC1, mitosis entry checkpoint 1, homolog; ataxia telangiectasia and Rad3-related protein; serine/threonine-protein kinase ATR isoform 1", "tax_id": 9606, "disease": "Seckel syndrome (Disease Ontology:DOID:0050569); non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); Seckel syndrome 1 (Disease Ontology:DOID:0070007); adenoid cystic carcinoma (Disease Ontology:DOID:0080202); Alzheimer's disease (Disease Ontology:DOID:10652); ataxia telangiectasia (Disease Ontology:DOID:12704); lung cancer (Disease Ontology:DOID:1324); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); colon cancer (Disease Ontology:DOID:219); nasopharynx carcinoma (Disease Ontology:DOID:9261); familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome (MONDO:MONDO:0013806)", "pathway": " (hsa:545); (R-HSA-1221632); (R-HSA-176187); (R-HSA-3371453); (R-HSA-5685938); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6783310); (R-HSA-6796648); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 12, "publication_count": 448, "publication_id_list": "10051570;10212258;10373362;10373512;10435622;10438626;10500146;10545197;10551859;10570149;10570174;10597277;10604467;10608806;10673500;10673501;10710310;10733923;10744977;10777662;10827953;10859164;10884347;10921897;10954706;10984493;11080452;11114888;11139606;11237011;11239454;11239457;11301010;11350971;11376695;11390642;11418864;11447225;11470508;11511362;11546806;11551930;11571269;11673449;11698410;11721054;11740489;11747420;11751635;11780126;11832208;11865061;11971958;11988847;12011431;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12399544;12526805;12545175;12578958;12640452;12676583;12676925;12702766;12750383;12759351;12766152;12791985;12814551;12851404;12853476;12914926;12917326;12963847;12974469;14500360;14576433;14603323;14605214;14624239;14657349;14702041;14729973;14734547;14742437;14871897;15050919;15053879;15125634;15189136;15190204;15210935;15226314;15235794;15302935;15314022;15359272;15364926;15485900;15496423;15572677;15665856;15680327;15703751;15707391;15743907;15758953;15781865;15802566;15833913;15866171;1586970;16148040;16153896;16260606;16278218;16322561;16327781;16360315;16407120;16530042;16885023;16916645;16943440;17108107;17289582;17344846;17349958;17412408;17460694;17515903;1754405;17575048;17591690;17924679;17928296;17938197;17962301;17965729;18082604;18171670;18174376;18235501;18235502;18283122;18317453;18480045;18490454;18539610;18541667;18550409;18669648;18691976;18757400;18805091;18923075;18931676;18971343;19111657;19121998;19146767;19229036;19357644;19413330;19419957;19482673;19561358;19589784;19596236;19651622;19914676;19965871;19995904;20068231;20084458;20102227;20154705;20233725;20347428;20347429;20385554;20427287;20603015;20603016;20603073;20634189;20670894;20671156;20729832;20729858;20729859;20798688;20801936;20810650;20959462;20965415;21052091;21144835;21240188;21263215;21317932;21325134;21335604;21464321;21565612;21659603;21680713;21701511;21705319;21764741;21777809;21804533;22012619;22021381;22024395;22194698;22231403;22258451;22287633;22341969;22396592;22424782;22465953;22510687;22541429;22544926;22635276;22645359;22661229;22661230;22692201;22735644;22792074;22940245;22957056;22977173;22988298;23000554;23149936;23186163;23273981;23325218;23344034;23345434;23349863;23468639;23475216;23481700;23485397;23676219;23698467;23723247;23810717;23897887;24013206;24076221;24145406;24153426;24389026;24397554;24553354;24554720;24623813;24662513;24715725;24726325;24804719;24874608;24901225;24905007;24950377;25083873;25113031;25122754;25249630;25418920;25429106;25430771;25500724;25505266;25558984;25561469;25576301;25645385;25659039;25712099;25892735;25965828;26124337;26145171;26154972;26168232;26375851;26387736;26683224;26684013;26758079;26768311;26783066;26811146;26919204;26992070;27397612;27538817;27600516;27656146;27683220;27723717;27723720;27839769;27846572;27862975;27869121;27920218;28063628;28094871;28218747;28228285;28264028;28412751;28514659;28698766;28832583;28834231;28855257;28904123;28916831;29163782;29209046;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30139873;30245854;30315122;30379171;30410026;30429286;30484775;30524438;30779550;30833945;30839063;31114877;31154438;31217245;31222486;31266951;31529615;31530632;31615875;31759252;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32675286;32741974;32897882;32938616;32983136;32984322;33141586;33202302;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33820915;33848395;33912179;33936100;33968037;33978741;33981976;34087483;34171305;34185709;34211107;34405274;34440403;34509645;34932366;35051231;35318648;35580925;36010968;36172813;36215666;36241641;36284347;36581221;37217939;37788673;37832547;37930853;38554113;38721777;38827321;7585962;8196638;8610130;8702565;8721986;8794855;8843195;8943031;8946918;8978690;9008167;9063748;9278511;9278512;9285814;9305631;9427750;9636169;9705271;9766667;9837724;9873016;9920933;9925639", "class_list": "", "function": "ATR phosphorylates DHX9 at serine 321 to suppress R-loop accumulation upon genotoxic stress., [RefSeq, PubMed]; EXO1 and DNA2-mediated ssDNA gap expansion is essential for ATR activation and to maintain viability in BRCA1-deficient cells., [RefSeq, PubMed]; New insights into ATR inhibition in muscle invasive bladder cancer: The role of apolipoprotein B mRNA editing catalytic subunit 3B. Publication Status: Online-Only, [RefSeq, PubMed]; SIRT2 promotes base excision repair by transcriptionally activating OGG1 in an ATM/ATR-dependent manner., [RefSeq, PubMed]; Serine/threonine protein kinase which activates checkpoint signaling upon genotoxic stresses such as ionizing radiation (IR), ultraviolet light (UV), or DNA replication stalling, thereby acting as a DNA damage sensor (PubMed:10597277, PubMed:10608806, PubMed:10859164, PubMed:11721054, PubMed:12791985, PubMed:12814551, PubMed:14657349, PubMed:14729973, PubMed:14742437, PubMed:15210935, PubMed:15496423, PubMed:16260606, PubMed:21144835, PubMed:21777809, PubMed:23273981, PubMed:25083873, PubMed:27723717, PubMed:27723720, PubMed:30139873, PubMed:33848395, PubMed:37788673, PubMed:37832547, PubMed:9427750, PubMed:9636169). Recognizes the substrate consensus sequence [ST]-Q (PubMed:10597277, PubMed:10608806, PubMed:10859164, PubMed:11721054, PubMed:12791985, PubMed:12814551, PubMed:14657349, PubMed:14729973, PubMed:14742437, PubMed:15210935, PubMed:15496423, PubMed:16260606, PubMed:21144835, PubMed:23273981, PubMed:27723717, PubMed:27723720, PubMed:33848395, PubMed:9427750, PubMed:9636169). Phosphorylates BRCA1, CHEK1, MCM2, RAD17, RBBP8, RPA2, SMC1 and p53/TP53, which collectively inhibit DNA replication and mitosis and promote DNA repair, recombination and apoptosis (PubMed:11114888, PubMed:11418864, PubMed:11865061, PubMed:21777809, PubMed:23273981, PubMed:25083873, PubMed:9925639). Phosphorylates 'Ser-139' of histone variant H2AX at sites of DNA damage, thereby regulating DNA damage response mechanism (PubMed:11673449). Required for FANCD2 ubiquitination (PubMed:15314022). Critical for maintenance of fragile site stability and efficient regulation of centrosome duplication (PubMed:12526805). Acts as a regulator of the S-G2 transition by restricting the activity of CDK1 during S-phase to prevent premature entry into G2 (PubMed:30139873). Acts as a regulator of the nuclear envelope integrity in response to DNA damage and stress (PubMed:25083873, PubMed:37788673, PubMed:37832547). Acts as a mechanical stress sensor at the nuclear envelope: relocalizes to the nuclear envelope in response to mechanical stress and mediates a checkpoint via phosphorylation of CHEK1 (PubMed:25083873). Also promotes nuclear envelope rupture in response to DNA damage by mediating phosphorylation of LMNA at 'Ser-282', leading to lamin disassembly (PubMed:37832547). Involved in the inflammatory response to genome instability and double-stranded DNA breaks: acts by localizing to micronuclei arising from genome instability and catalyzing phosphorylation of LMNA at 'Ser-395', priming LMNA for subsequent phosphorylation by CDK1 and micronuclei envelope rupture (PubMed:37788673). The rupture of micronuclear envelope triggers the cGAS-STING pathway thereby activating the type I interferon response and innate immunity (PubMed:37788673). Positively regulates the restart of stalled replication forks following activation by the KHDC3L-OOEP scaffold complex (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a serine/threonine kinase and DNA damage sensor, activating cell cycle checkpoint signaling upon DNA stress. The encoded protein can phosphorylate and activate several proteins involved in the inhibition of DNA replication and mitosis, and can promote DNA repair, recombination, and apoptosis. This protein is also important for fragile site stability and centrosome duplication. Defects in this gene are a cause of Seckel syndrome 1. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 150, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 13, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q59HB2;Q7KYL3;Q93051;Q9BXK4", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "6.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.5.1.1", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.1.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0032405 MutLalpha complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0016605 PML body;GO:0005694 chromosome", "go_biological_process": "GO:0046685 response to arsenic-containing substance;GO:0006281 DNA repair;GO:1900034 regulation of cellular response to heat;GO:0000723 telomere maintenance;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 45.2, "record_id": "Q13535-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D31-1", "uniprot_id": [ { "id": "ORAI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D31", "type": "external" } ], "mass": 32668.0, "length": 301, "protein_name": "Calcium release-activated calcium channel protein 1", "gene_name": "ORAI1", "organism": "Human", "refseq_name": "calcium release-activated calcium channel protein 1", "refseq_ac": [ { "id": "NP_116179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116179", "type": "external" } ], "gene_names_uniprotkb": "ORAI1; CRACM1; TMEM142A", "gene_names_refseq": "CRACM1; IMD9; ORAI1; ORAT1; TAM2; TMEM142A", "protein_names_uniprotkb": "Calcium release-activated calcium channel protein 1; Protein orai-1; Transmembrane protein 142A", "protein_names_refseq": "calcium release-activated calcium channel protein 1; calcium release-activated calcium modulator 1; protein orai-1; transmembrane protein 142A", "tax_id": 9606, "disease": "Stormorken syndrome (Disease Ontology:DOID:0060354); tubular aggregate myopathy 2 (Disease Ontology:DOID:0080686); immunodeficiency 9 (Disease Ontology:DOID:0111976); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:84876); (R-HSA-139853); (R-HSA-5578775); (R-HSA-983695)", "pathway_count": 4, "publication_count": 198, "publication_id_list": "10051622;10220561;10432293;10498607;10556826;10648173;10706702;10770799;1081164;10880360;10913253;10983984;11042164;11062458;11071869;11226282;11449366;11606584;11805119;11901194;11904675;11909947;12119109;12181444;12453414;12456653;12573241;12832055;12953268;1372019;1374290;1375264;1376928;15161916;15174025;15187135;15260953;1550550;15509800;15598648;15754088;1599430;16147976;16582901;16645049;16733527;16754674;16766533;16807233;16849466;16906149;16921383;1693919;1702903;1705565;17224452;17357072;17442569;17452328;17486119;17905723;18006696;18025150;18052078;18187424;18326500;18420269;18578522;18596693;18669648;18818202;18843204;18995841;19182790;19206206;19249086;19278978;19372136;19622606;19706554;19751721;20068231;2011584;20192804;20354224;20388710;20418871;20534587;20887894;21108950;21408196;21469132;21822214;22084111;22180443;22210847;2226863;22427649;22494970;22586105;22641696;22707725;22972900;2303036;2304550;23109337;23307288;23362265;23549614;23610579;2430951;24351972;2457808;24591628;2477373;25418920;25502872;2559024;25994790;26221052;26269433;26956484;26992070;27185316;27846572;28058752;28063628;28218747;28219928;28228285;2838329;28645727;28832583;28904123;29242379;29314611;29393594;29493099;2953725;29632046;30481768;30573509;31036819;31217245;31530632;31652779;31844290;32157095;32415068;32502341;32938616;33076541;33592498;33912179;33936100;33941685;33968037;34357683;34433824;3500860;35051231;35154160;36241641;39135143;39191091;39191092;39214396;39312878;4589993;6328127;6335036;7524079;7528218;7538118;7592958;7687428;7687539;7688784;7691807;7702581;7927516;7929371;803528;8163536;8306975;8646775;8798450;8918259;8947047;9235916;9326643;9341187;9346285;9382888;9565569;9697839;9705962;9930701", "class_list": "", "function": "Activated human Orai1 channel in lipid biolayer may exist as a pentamer., [RefSeq, PubMed]; ELD607 specifically traffics Orai1 to the lysosome leading to inhibition of store operated calcium entry., [RefSeq, PubMed]; Orai1 and Orai3 act through distinct signalling axes to promote stemness and tumorigenicity of breast cancer stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; Orai1 is an essential component or regulator of the CRAC channel complex, [RefSeq, PubMed]; Pore-forming subunit of CRAC channels exclusively., [UniProtKB, PubMed, PubMed, PubMed]; Pore-forming subunit of both CRAC and ARC channels. Couples Ca(2+) influx to NFAT-mediated transcriptional responses., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Pore-forming subunit of two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (Probable) (PubMed:16645049, PubMed:16733527, PubMed:16807233, PubMed:16921383, PubMed:19249086, PubMed:19706554, PubMed:23307288, PubMed:26956484, PubMed:28219928). Assembles with ORAI2 and ORAI3 to form hexameric CRAC channels that mediate Ca(2+) influx upon depletion of endoplasmic reticulum Ca(2+) store and channel activation by Ca(2+) sensor STIM1, a process known as store-operated Ca(2+) entry (SOCE). Various pore subunit combinations may account for distinct CRAC channel spatiotemporal and cell-type specific dynamics. ORAI1 mainly contributes to the generation of Ca(2+) plateaus involved in sustained Ca(2+) entry and is dispensable for cytosolic Ca(2+) oscillations, whereas ORAI2 and ORAI3 generate oscillatory patterns. CRAC channels assemble in Ca(2+) signaling microdomains where Ca(2+) influx is coupled to calmodulin and calcineurin signaling and activation of NFAT transcription factors recruited to ORAI1 via AKAP5. Activates NFATC2/NFAT1 and NFATC3/NFAT4-mediated transcriptional responses. CRAC channels are the main pathway for Ca(2+) influx in T cells and promote the immune response to pathogens by activating NFAT-dependent cytokine and chemokine transcription (PubMed:16582901, PubMed:17442569, PubMed:19182790, PubMed:20354224, PubMed:22641696, PubMed:26221052, PubMed:32415068, PubMed:33941685). Assembles with ORAI3 to form channels that mediate store-independent Ca(2+) influx in response to inflammatory metabolites arachidonate or its derivative leukotriene C4, termed ARC and LRC channels respectively (PubMed:19622606, PubMed:32415068). Plays a prominent role in Ca(2+) influx at the basolateral membrane of mammary epithelial cells independently of the Ca(2+) content of endoplasmic reticulum or Golgi stores. May mediate transepithelial transport of large quantities of Ca(2+) for milk secretion (By similarity) (PubMed:20887894)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Remodeling Ca[2+] dynamics by targeting a promising E-box containing G-quadruplex at ORAI1 promoter in triple-negative breast cancer., [RefSeq, PubMed]; Results demonstrate that the protein CRACM1 encoded by FLJ14466 is essential for store-operated Ca2+ influx via Ca2+ release-activated Ca2+ (CRAC) channels, [RefSeq, PubMed]; STIM1 and CRACM1 interact functionally. Overexpression of both proteins greatly potentiates I(CRAC), suggesting that STIM1 and CRACM1 mutually limit store-operated currents and that CRACM1 may be the long-sought CRAC channel., [RefSeq, PubMed]; The effect of genetic polymorphisms in STIM1 and ORAI1 on erythropoietin resistance in Egyptian patients with end-stage renal disease., [RefSeq, PubMed]; The protein encoded by this gene is a membrane calcium channel subunit that is activated by the calcium sensor STIM1 when calcium stores are depleted. This type of channel is the primary way for calcium influx into T-cells. Defects in this gene are a cause of immune dysfunction with T-cell inactivation due to calcium entry defect type 1 (IDTICED1). [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q3MHV3;Q6DHX2;Q96BP7;Q96K71", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0042802 identical protein binding;GO:0015279 store-operated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0044853 plasma membrane raft;GO:0045121 membrane raft", "go_biological_process": "GO:0051924 regulation of calcium ion transport;GO:0002250 adaptive immune response;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0070588 calcium ion transmembrane transport;GO:0017156 calcium-ion regulated exocytosis", "synthesized_glycan_count": 0, "hit_score": 20.0, "record_id": "Q96D31-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWU2-1", "uniprot_id": [ { "id": "GID8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWU2", "type": "external" } ], "mass": 26749.0, "length": 228, "protein_name": "Glucose-induced degradation protein 8 homolog", "gene_name": "GID8", "organism": "Human", "refseq_name": "glucose-induced degradation protein 8 homolog", "refseq_ac": [ { "id": "NP_060366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060366", "type": "external" } ], "gene_names_uniprotkb": "GID8; C20orf11; TWA1", "gene_names_refseq": "C20orf11; GID8; TWA1", "protein_names_uniprotkb": "Glucose-induced degradation protein 8 homolog; Twa1; Two hybrid-associated protein 1 with RanBPM", "protein_names_refseq": "glucose-induced degradation protein 8 homolog; protein C20orf11; two hybrid associated protein No. 1 with RanBPM; two hybrid-associated protein 1 with RanBPM", "tax_id": 9606, "disease": "", "pathway": " (hsa:54994); (R-HSA-9861718)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "12559565;17467196;18387606;22499340;24143168;24366607;25505266;25576301;25880248;25892735;26024233;26992070;27846572;27862975;28228285;28829046;28832583;29242379;29557506;29632711;29769354;29786170;29911972;31154438;31530632;31735643;31844290;31848261;32157095;32357974;32502341;32983136;33141586;33392160;33462636;33592498;33717175;33912179;33968037;34087483;34932366;35051231;35318648;35580925;36215666;36241641;36284347;39151722;7757881", "class_list": "", "function": "Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Acts as a positive regulator of Wnt signaling pathway by promoting beta-catenin (CTNNB1) nuclear accumulation (PubMed:28829046)., [UniProtKB, PubMed, PubMed]; YTHDF1 regulates GID8-mediated glutamine metabolism to promote colorectal cancer progression in m6A-dependent manner., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P5I3;Q8N5M5", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030054 cell junction", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9NWU2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P5Z2-1", "uniprot_id": [ { "id": "PKN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P5Z2", "type": "external" } ], "mass": 99421.0, "length": 889, "protein_name": "Serine/threonine-protein kinase N3", "gene_name": "PKN3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase N3 isoform 1", "refseq_ac": [ { "id": "NP_037487", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037487", "type": "external" } ], "gene_names_uniprotkb": "PKN3; PKNBETA", "gene_names_refseq": "PKN3; UTDP4-1", "protein_names_uniprotkb": "Serine/threonine-protein kinase N3; 2.7.11.13; Protein kinase PKN-beta; Protein-kinase C-related kinase 3", "protein_names_refseq": "protein kinase PKN-beta; protein-kinase C-related kinase 3; serine/threonine-protein kinase N3 isoform 1; serine/threonine-protein kinase N3", "tax_id": 9606, "disease": "", "pathway": " (hsa:29941); (R-HSA-5625740); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 5, "publication_count": 225, "publication_id_list": "10037681;10232922;10330186;10441506;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10753910;10873388;10924361;11058585;11085924;11134534;11207612;11313932;11331307;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;11942626;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12783890;12857875;12877655;14512443;14514689;15003508;15023524;15064355;15107133;15184667;15282551;15302923;15342493;15485661;15601624;15611138;15791647;15850391;15866170;15944396;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;17077126;17192257;17198702;17301291;17344846;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18158243;18218625;18669648;18691976;18802007;18829452;19369195;19494238;19605563;19635168;19651622;19673492;19713215;19723632;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21576392;21699497;21749319;21757538;21865595;21936715;22096251;22298643;22305756;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24933155;25211221;25425145;25576301;25673874;25704760;26371245;26529257;26887924;26992070;27145964;27216196;27397612;27481945;27600516;27862975;27986909;28112683;28196833;28228285;28584191;28832583;28834231;29146911;29242379;29557506;30379171;30422386;30429286;30833945;31105010;31154438;31530632;31844290;31871319;32157095;32161166;32203420;32350084;32387766;32502341;32938616;33092266;33968037;34171305;34509645;35051231;35580925;36010968;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662509;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9278512;9305890;9354661;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970;9889122;9988689", "class_list": "", "function": "A Screen for PKN3 Substrates Reveals an Activating Phosphorylation of ARHGAP18. Publication Status: Online-Only, [RefSeq, PubMed]; A novel interaction of p130Cas with Ser/Thr kinase PKN3, is reported., [RefSeq, PubMed]; Contributes to invasiveness in malignant prostate cancer., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q9UM03", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "1.14.14.18", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.18", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0031267 small GTPase binding;GO:0004697 diacylglycerol-dependent serine/threonine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0010631 epithelial cell migration;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q6P5Z2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q17RB0-1", "uniprot_id": [ { "id": "RTL8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q17RB0", "type": "external" } ], "mass": 13246.0, "length": 113, "protein_name": "Retrotransposon Gag-like protein 8B", "gene_name": "RTL8B", "organism": "Human", "refseq_name": "retrotransposon Gag-like protein 8B", "refseq_ac": [ { "id": "NP_001071641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071641", "type": "external" } ], "gene_names_uniprotkb": "RTL8B; CXX1C; FAM127C; MAR8B", "gene_names_refseq": "CXX1c; FAM127C; MAR8B; RTL8B; SIRH4", "protein_names_uniprotkb": "Retrotransposon Gag-like protein 8B; Mammalian retrotransposon derived protein 8B", "protein_names_refseq": "Sushi-Ichi retrotransposon homolog 1; family with sequence similarity 127 member C; mammalian retrotransposon derived protein 8B; mammalian retrotransposon-derived 2; protein FAM127C; retrotransposon Gag-like protein 8B", "tax_id": 9606, "disease": "", "pathway": " (hsa:441518)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "16093683;29437277;29557506;31844290;32357974;32387766;32488085;33592498;35247097", "class_list": "", "function": "RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q17RB0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UD0-1", "uniprot_id": [ { "id": "SAPC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UD0", "type": "external" } ], "mass": 42637.0, "length": 394, "protein_name": "Suppressor APC domain-containing protein 2", "gene_name": "SAPCD2", "organism": "Human", "refseq_name": "suppressor APC domain-containing protein 2", "refseq_ac": [ { "id": "NP_848543", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848543", "type": "external" } ], "gene_names_uniprotkb": "SAPCD2; C9orf140", "gene_names_refseq": "C9orf140; SAPCD2; p42.3", "protein_names_uniprotkb": "Suppressor APC domain-containing protein 2; TS/MDEP; Tumor specificity and mitosis phase-dependent expression protein; p42.3", "protein_names_refseq": "2010317E24Rik; TS/MDEP; protein C9orf140; suppressor APC domain-containing protein 2; tumor specificity and mitosis phase-dependent expression protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:89958)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "17525738;21998710;23186163;23192843;23228105;23481700;23576022;23704824;25418920;25576301;26154972;26766442;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29786170;30315122;30410026;30524438;30779550;31530632;31844290;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33592498;33683171;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34561969;35051231;35197448;35251023;35467005;36010968;36241641;38158695", "class_list": "", "function": "Homologous proteins SAPCD2X1 and SAPCD2 have significantly different carcinogenic capacities in human colorectal cancer cells based on structural prediction and functional verification. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-486-5p specifically suppresses SAPCD2 expression, which attenuates the aggressive phenotypes of lung adenocarcinoma cells., [RefSeq, PubMed]; P42.3 might play an important role in the progression of colorectal cancer., [RefSeq, PubMed]; P42.3 overexpression is associated with mitotic progression in malignant transformed cells., [RefSeq, PubMed]; P42.3 protein plays an important role in the generation and development of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in planar mitotic spindle orientation in retinal progenitor cells (RPCs) and promotes the production of symmetric terminal divisions (By similarity). Negatively regulates the mitotic apical cortex localization of GPSM2 (PubMed:26766442). Involved also in positive regulation of cell proliferation and tumor cell growth (PubMed:23576022, PubMed:23704824)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; SAPCD2 promotes neuroblastoma progression by altering the subcellular distribution of E2F7. Publication Status: Online-Only, [RefSeq, PubMed]; The regulatory relationship between miRNAs and the p42.3 gene, [RefSeq, PubMed]; YY1-inudced activation of lncRNA DUXAP8 promotes proliferation and suppresses apoptosis of triple negative breast cancer cells through upregulating SAPCD2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0045179 apical cortex;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0000132 establishment of mitotic spindle orientation;GO:0090175 regulation of establishment of planar polarity;GO:0098725 symmetric cell division;GO:1904777 negative regulation of protein localization to cell cortex", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q86UD0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95295-1", "uniprot_id": [ { "id": "SNAPN_HUMAN", "url": "https://www.uniprot.org/uniprot/O95295", "type": "external" } ], "mass": 14874.0, "length": 136, "protein_name": "SNARE-associated protein Snapin", "gene_name": "SNAPIN", "organism": "Human", "refseq_name": "SNARE-associated protein Snapin", "refseq_ac": [ { "id": "NP_036569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036569", "type": "external" } ], "gene_names_uniprotkb": "SNAPIN; BLOC1S7; SNAP25BP; SNAPAP", "gene_names_refseq": "BLOC1S7; BLOS7; BORCS3; NEDBAC; SNAPAP; SNAPIN", "protein_names_uniprotkb": "SNARE-associated protein Snapin; BLOC-1 subunit 7; Biogenesis of lysosome-related organelles complex 1 subunit 7; SNAP-associated protein; Synaptosomal-associated protein 25-binding protein", "protein_names_refseq": "BLOC-1 related complex subunit 3; BLOC-1 subunit 7; SNAP-25-binding protein; SNARE associated protein snapin; SNARE-associated protein Snapin; biogenesis of lysosomal organelles complex-1, subunit 7; biogenesis of lysosome-related organelles complex 1 subunit 7; synaptosomal-associated protein 25-binding protein", "tax_id": 9606, "disease": "neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities (Disease Ontology:DOID:0070714); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)", "pathway": " (hsa:23557); (R-HSA-432722)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10195194;10394364;11283605;11590181;11604418;11694590;11994746;12659861;15102850;16155256;16213214;17116749;17182842;17287340;17322306;18167355;18212344;18669648;19168546;19413330;19664994;19664995;19690332;20068231;21102408;21917956;22203680;22424782;22471585;22544926;23186163;23301498;23949442;24714562;24715725;25418920;25576301;25645385;25898167;26154972;26728094;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29493099;29557506;29632046;29632711;29786170;30315122;30429286;30524438;31154438;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34194388;34211107;34405274;34509645;34681928;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37938771;40930097;8374173;8524399;8670264", "class_list": "", "function": "Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking and synaptic vesicle recycling. May modulate a step between vesicle priming, fusion and calcium-dependent neurotransmitter release through its ability to potentiate the interaction of synaptotagmin with the SNAREs and the plasma-membrane-associated protein SNAP25. Its phosphorylation state influences exocytotic protein interactions and may regulate synaptic vesicle exocytosis. May also have a role in the mechanisms of SNARE-mediated membrane fusion in non-neuronal cells (PubMed:17182842, PubMed:18167355). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167)., [UniProtKB, PubMed, PubMed, PubMed]; Results suggest that RGS7 could play a role in synaptic vesicle exocytosis through its interaction with snapin, [RefSeq, PubMed]; SNAPIN Regulates Cell Cycle Progression to Promote Pancreatic beta Cell Growth. Publication Status: Online-Only, [RefSeq, PubMed]; Snapin Specifically Up-Regulates Cav1.3 Ca(2+) Channel Variant with a Long Carboxyl Terminus. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a coiled-coil-forming protein that associates with the SNARE (soluble N-ethylmaleimide-sensitive fusion protein attachment protein receptor) complex of proteins and the BLOC-1 (biogenesis of lysosome-related organelles) complex. Biochemical studies have identified additional binding partners. As part of the SNARE complex, it is required for vesicle docking and fusion and regulates neurotransmitter release. The BLOC-1 complex is required for the biogenesis of specialized organelles such as melanosomes and platelet dense granules. Mutations in gene products that form the BLOC-1 complex have been identified in mouse strains that are models of Hermansky-Pudlak syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DV56;Q5SXU8", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0000149 SNARE binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0030141 secretory granule;GO:0045202 synapse;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0031175 neuron projection development;GO:0010977 negative regulation of neuron projection development;GO:0007040 lysosome organization;GO:0008333 endosome to lysosome transport", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "O95295-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16548-1", "uniprot_id": [ { "id": "B2LA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16548", "type": "external" } ], "mass": 20132.0, "length": 175, "protein_name": "Bcl-2-related protein A1", "gene_name": "BCL2A1", "organism": "Human", "refseq_name": "bcl-2-related protein A1 isoform 2", "refseq_ac": [ { "id": "NP_001108207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108207", "type": "external" } ], "gene_names_uniprotkb": "BCL2A1; BCL2L5; BFL1; GRS; HBPA1", "gene_names_refseq": "ACC-1; ACC-2; ACC1; ACC2; BCL2A1; BCL2L5; BFL1; GRS; HBPA1", "protein_names_uniprotkb": "Bcl-2-related protein A1; Bcl-2-like protein 5; Bcl2-L-5; Hemopoietic-specific early response protein; Protein BFL-1; Protein GRS", "protein_names_refseq": "bcl-2-like protein 5; bcl-2-related protein A1 isoform 2; bcl2-L-5; hematopoietic BCL2-related protein A1; hemopoietic-specific early response protein; protein BFL-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:597); (R-HSA-9725371); (R-HSA-9824594)", "pathway_count": 3, "publication_count": 99, "publication_id_list": "10772918;11169414;11751994;12748172;12771180;14744763;15507434;16009132;17110082;17111047;17416736;17690253;17922009;18024471;18097461;18327259;18812174;18991276;20015877;20493732;21715655;21872626;22647378;22955283;23055042;23481700;24060861;24714562;24715725;25142731;25418920;25469497;25502872;25505266;25818168;25892735;26154972;26375851;26728094;26811146;26929215;27553022;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28834231;28860189;28904123;29242379;29393594;29508533;29557506;29588546;29632046;29786170;30315122;30410026;30692217;30804224;30833945;31366041;31390744;31434245;31530632;31844290;32157095;32265295;32350084;32387766;32502341;32938616;32983136;33123756;33141586;33298915;33691108;33717175;33912179;33936100;34245648;35051231;35580925;36284347;37415254;37562004;37889551;38059622;38211832;7478596;8605321;9050999;9537257;9806836;9930702", "class_list": "", "function": "BCL2A1 is associated with tumor-associated macrophages and unfavorable prognosis in human gliomas., [RefSeq, PubMed]; CARD11 gain of function upregulates BCL2A1 expression and promotes resistance to targeted therapies combination in B-cell lymphoma., [RefSeq, PubMed]; Epstein-Barr virus induces germinal center light zone chromatin architecture and promotes survival through enhancer looping at the BCL2A1 locus., [RefSeq, PubMed]; MARCH5-mediated downregulation of ACC2 promotes fatty acid oxidation and tumor progression in ovarian cancer., [RefSeq, PubMed]; MiR-3976 regulates HCT-8 cell apoptosis and parasite burden by targeting BCL2A1 in response to Cryptosporidium parvum infection. Publication Status: Online-Only, [RefSeq, PubMed]; Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to external signals and in maintaining endothelial survival during infection (By similarity). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FGZ4;Q6FH19;Q86W13;Q99524", "ec_number_list": [], "go_molecular_function": "GO:0015267 channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage;GO:0001836 release of cytochrome c from mitochondria;GO:0008053 mitochondrial fusion", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q16548-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUN5-1", "uniprot_id": [ { "id": "CC28B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUN5", "type": "external" } ], "mass": 22037.0, "length": 200, "protein_name": "Coiled-coil domain-containing protein 28B", "gene_name": "CCDC28B", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 28B isoform 1", "refseq_ac": [ { "id": "NP_001287940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287940", "type": "external" } ], "gene_names_uniprotkb": "CCDC28B", "gene_names_refseq": "CCDC28B; LTAP2B", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 28B", "protein_names_refseq": "coiled-coil domain-containing protein 28B isoform 1; coiled-coil domain-containing protein 28B; lipid transport auxiliary protein 2B", "tax_id": 9606, "disease": "Bardet-Biedl syndrome 1 (Disease Ontology:DOID:0110123); Bardet-Biedl syndrome (Disease Ontology:DOID:1935)", "pathway": " (hsa:79140)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;16327777;19690332;23015189;23186163;23481700;23727834;24715725;25418920;25576301;27920218;28063628;28228285;28832583;29242379;29393594;29445114;29508533;29632046;30315122;31217245;31844290;32265295;32502341;33298915;33717175;33912179;33936100;34171305;34294890;34932366", "class_list": "", "function": "A CVID-associated variant in the ciliogenesis protein CCDC28B disrupts immune synapse assembly., [RefSeq, PubMed]; Findings implicate CCDC28B in the regulation of mTORC2, and uncover a novel function of SIN1 regulating cilia length that is likely independent of mTOR signaling., [RefSeq, PubMed]; Identification of a novel locus, MGC1203, that contributes epistatic alleles to Bardet-Biedl syndrome, a pleiotropic, oligogenic disorder; MGC1203 encodes a pericentriolar protein that interacts and colocalizes with the BBS proteins, [RefSeq, PubMed]; Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex., [UniProtKB, PubMed, PubMed]; Reports CCDC28B as a novel protein involved in the process of ciliogenesis whilst providing functional insight into the cellular basis of its modifier effect in Bardet-Biedl syndrome., [RefSeq, PubMed]; The product of this gene localizes to centrosomes and basal bodies. The protein colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS) and participates in the regulation of cilia development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; These studies demonstrate that kinesin 1 regulates ciliogenesis through CCDC28B Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K789;Q8TBV8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BUN5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42677-1", "uniprot_id": [ { "id": "RS27_HUMAN", "url": "https://www.uniprot.org/uniprot/P42677", "type": "external" } ], "mass": 9461.0, "length": 84, "protein_name": "Small ribosomal subunit protein eS27", "gene_name": "RPS27", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS27 isoform 1", "refseq_ac": [ { "id": "NP_001021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001021", "type": "external" } ], "gene_names_uniprotkb": "RPS27; MPS1", "gene_names_refseq": "DBA17; MPS-1; MPS1; RPS27; S27; eS27", "protein_names_uniprotkb": "Small ribosomal subunit protein eS27; 40S ribosomal protein S27; MPS-1; Metallopan-stimulin 1", "protein_names_refseq": "metallopan-stimulin 1; metallopanstimulin 1; small ribosomal subunit protein eS27 isoform 1; small ribosomal subunit protein eS27", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 17 (Disease Ontology:DOID:0111880)", "pathway": " (hsa:6232); (R-HSA-141430); (R-HSA-141444); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-6791226); (R-HSA-68877); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9648025); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 28, "publication_count": 329, "publication_id_list": "10358005;10364207;10411507;10600384;10659855;10678165;1095581;10958683;10970870;10982836;11018020;11018027;1104615;11081627;11181178;11237011;11265756;11331269;11371342;11509732;11532962;11535616;11544179;11546874;11551508;11677247;11691921;11726970;11804586;11875025;11922599;11964406;12006501;12068309;12150911;12194817;12417715;12429848;12493757;12554878;12577064;12588972;12679384;12718880;12732141;12805219;12832468;12852857;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14730319;14742663;14973490;15006353;15034551;15085137;15317934;15339662;15385533;15507212;15534230;15546618;15721257;15723797;15737063;15775988;15781252;15821744;15864301;15866170;15944396;16026328;16037817;16043514;16186820;16209946;16284618;16292343;16439214;16452507;16469117;16541025;16601204;16622410;16622419;16622420;16630668;16682347;16738141;16890222;16912115;16943183;16989641;17030981;17053788;17081983;17112726;17113138;17129783;17142313;17189298;17196341;17198702;17267404;17322306;17352659;17353269;17363904;1737036;17412707;17726049;17803942;17893241;18001770;18065403;18066079;18083107;18097444;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18452278;18455985;18524595;18539146;1856230;1861871;18657639;18691976;18716626;18767875;18923426;18974281;19060897;19106111;19150429;19332556;19350017;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19696148;19706539;19801658;19815554;19838190;19859661;19901323;19909264;19965387;20023408;20030946;20038530;20056613;2006156;20068231;20101212;20361218;20444697;20479275;20531386;20591975;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21111234;21145460;21148482;21397845;21419344;21576392;21868368;21878504;21987589;22072790;22094460;22121020;22174690;22190735;22195017;22275430;22608513;22790947;22855488;22885700;22916032;23035226;23085078;23186163;23217742;23222643;23234702;23269699;23439679;23482395;23636399;23746841;23801653;2388630;24424021;24524803;24550520;24715725;24914801;25132172;25242263;25418920;25424902;25432065;25525153;25740311;25789526;25880248;25969445;26154972;26237581;26811146;26929215;26992070;27526673;27846572;27862975;27920218;28063628;28065601;28132843;28228285;28685749;28832583;29242379;29393594;29413899;29557506;29632046;30192525;30293783;30315122;30484775;30804176;31154438;31217245;31409757;31844290;31848261;32099016;32119511;32157095;32265295;32387766;32579943;32680882;32779270;32908316;32995776;32995777;33043033;33080218;33141586;33188728;33214551;33268501;33479166;34019948;34260926;34315815;34373319;34516797;34586601;34624207;35138101;35546566;36215666;36284347;36302773;36610391;37217939;37938771;38665916;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8407955;8706699;8890909;8908372;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9649308;9649503;9712840;9732867;9857202;9892021", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399, PubMed:8706699). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for proper rRNA processing and maturation of 18S rRNAs (PubMed:25424902). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Hsp90 chaperone code and the tumor suppressor VHL cooperatively regulate the mitotic checkpoint., [RefSeq, PubMed]; Neddylation modification of ribosomal protein RPS27L or RPS27 by MDM2 or NEDP1 regulates cancer cell survival., [RefSeq, PubMed]; RPS27 selectively regulates the expression and alternative splicing of inflammatory and immune response genes in thyroid cancer cells., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of the S27e family of ribosomal proteins and component of the 40S subunit. The encoded protein contains a C4-type zinc finger domain that can bind to zinc and may bind to nucleic acid. Mutations in this gene have been identified in numerous melanoma patients and in at least one patient with Diamond-Blackfan anemia (DBA). Elevated expression of this gene has been observed in various human cancers. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T4L6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006412 translation;GO:0006364 rRNA processing;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis;GO:0000028 ribosomal small subunit assembly", "synthesized_glycan_count": 0, "hit_score": 33.2, "record_id": "P42677-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z353-1", "uniprot_id": [ { "id": "HDX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z353", "type": "external" } ], "mass": 77206.0, "length": 690, "protein_name": "Highly divergent homeobox", "gene_name": "HDX", "organism": "Human", "refseq_name": "highly divergent homeobox isoform 2", "refseq_ac": [ { "id": "NP_001170949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001170949", "type": "external" } ], "gene_names_uniprotkb": "HDX; CXorf43", "gene_names_refseq": "CXorf43; D030011N01Rik; HDX", "protein_names_uniprotkb": "Highly divergent homeobox", "protein_names_refseq": "highly divergent homeobox isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:139324)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;20166139;28514659;29577908;30429286;31844290;32157095;32983136;33141586;33592498;33625217;33968037;35051231;36010968;37074911", "class_list": "", "function": "HDX negatively regulates EPAS1 expression through a release-of-inhibition mechanism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K1Y5;B7ZL18;Q5JZB4;Q96NK7", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q7Z353-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000100000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17661-1", "uniprot_id": [ { "id": "DESM_HUMAN", "url": "https://www.uniprot.org/uniprot/P17661", "type": "external" } ], "mass": 53536.0, "length": 470, "protein_name": "Desmin", "gene_name": "DES", "organism": "Human", "refseq_name": "desmin isoform 1", "refseq_ac": [ { "id": "NP_001918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001918", "type": "external" } ], "gene_names_uniprotkb": "DES", "gene_names_refseq": "CDCD3; CSM1; CSM2; DES; LGMD1D; LGMD1E; LGMD2R", "protein_names_uniprotkb": "Desmin", "protein_names_refseq": "cardiomyopathy, dilated 1F (autosomal dominant); cardiomyopathy, dilated 1I; desmin isoform 1; epididymis secretory sperm binding protein; intermediate filament protein", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); cardiomyopathy (Disease Ontology:DOID:0050700); myofibrillar myopathy 1 (Disease Ontology:DOID:0080092); myofibrillar myopathy (Disease Ontology:DOID:0080307); dilated cardiomyopathy 1I (Disease Ontology:DOID:0110431); neurogenic scapuloperoneal syndrome Kaeser type (Disease Ontology:DOID:0111551); dilated cardiomyopathy (Disease Ontology:DOID:12930); restrictive cardiomyopathy (Disease Ontology:DOID:397); mitral valve prolapse (Disease Ontology:DOID:988)", "pathway": " (hsa:1674); (R-HSA-390522)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10430757;10545598;10574968;10717012;10747208;10852826;10905661;10970245;11061256;11668632;12620971;12686604;12766977;14648196;14711882;14724127;15495235;15800015;16009553;16376610;16865695;16923132;17221859;17381546;17439987;18061454;18991276;19651622;19879535;20068230;2007603;20166139;20423733;20829228;21135508;21842594;22106715;22395865;22908310;23168288;23271734;23481700;23615443;23687351;24200904;24275569;24413773;24940650;25208129;25358400;25394388;25576301;25645385;26375851;26724190;2673923;27565725;27733623;27862975;28470624;29237092;29483093;29557506;30262925;30833945;31154438;31530632;31844290;31848261;32502341;32938616;32983136;33123756;3359992;33968037;33981976;34185709;35051231;35580925;36284347;37074911;37217939;37938771;38247853;38607042;38665916;38824194;8439342;8792816;9697706;9736733;9875213", "class_list": "", "function": "Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation. Publication Status: Online-Only, [RefSeq, PubMed]; Muscle-specific type III intermediate filament essential for proper muscular structure and function. Plays a crucial role in maintaining the structure of sarcomeres, inter-connecting the Z-disks and forming the myofibrils, linking them not only to the sarcolemmal cytoskeleton, but also to the nucleus and mitochondria, thus providing strength for the muscle fiber during activity (PubMed:25358400). In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures (PubMed:24200904, PubMed:25394388, PubMed:26724190). May act as a sarcomeric microtubule-anchoring protein: specifically associates with detyrosinated tubulin-alpha chains, leading to buckled microtubules and mechanical resistance to contraction. Required for nuclear membrane integrity, via anchoring at the cell tip and nuclear envelope, resulting in maintenance of microtubule-derived intracellular mechanical forces (By similarity). Contributes to the transcriptional regulation of the NKX2-5 gene in cardiac progenitor cells during a short period of cardiomyogenesis and in cardiac side population stem cells in the adult. Plays a role in maintaining an optimal conformation of nebulette (NEB) on heart muscle sarcomeres to bind and recruit cardiac alpha-actin (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Skeletal muscle desmin alterations following revascularization in peripheral artery disease claudicants. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]., [RefSeq]; Unraveling Desmin's Head Domain Structure and Function. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 32, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q15787;Q549R7;Q549R8;Q549R9;Q8IZR1;Q8IZR6;Q8NES2;Q8NEU6;Q8TAC4;Q8TCX2;Q8TD99;Q9UHN5;Q9UJ80", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0042802 identical protein binding;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0051286 cell tip;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005829 cytosol;GO:0005911 cell-cell junction", "go_biological_process": "GO:0060538 skeletal muscle organ development;GO:0006936 muscle contraction;GO:0007010 cytoskeleton organization;GO:0008016 regulation of heart contraction;GO:0045109 intermediate filament organization", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "P17661-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR76-1", "uniprot_id": [ { "id": "COR1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR76", "type": "external" } ], "mass": 54235.0, "length": 489, "protein_name": "Coronin-1B", "gene_name": "CORO1B", "organism": "Human", "refseq_name": "coronin-1B", "refseq_ac": [ { "id": "NP_001018080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018080", "type": "external" } ], "gene_names_uniprotkb": "CORO1B", "gene_names_refseq": "CORO1B; CORONIN-2", "protein_names_uniprotkb": "Coronin-1B; Coronin-2", "protein_names_refseq": "coronin, actin binding protein, 1B; coronin-1B", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714)", "pathway": " (hsa:57175)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;16027158;16959974;17350576;18452278;20068231;22424782;24714562;25645385;25800056;26154972;26992070;27592029;27600516;27862975;27893789;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29786170;30379171;30429286;30779550;31844290;32119511;32157095;32303335;32357974;32387766;32488085;32897882;32938616;33141586;33275893;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34405274;34509645;34725712;35051231;35580925;36010968;36215666;36241641;36284347;38665916;40596516;9915840", "class_list": "", "function": "Coronin 1B regulates leading edge dynamics and controls cell motility and interactions with the actin-related protein (Arp)2/3 complex, [RefSeq, PubMed]; Coronin 1B regulates the TNFalpha-induced apoptosis of HUVECs by mediating the interaction between TRADD and FADD., [RefSeq, PubMed]; In rabbits, cholinergic stimulation increases the phosphorylation of coronin 1B in gastric mucosal cells, [RefSeq, PubMed]; Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]., [RefSeq]; Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; Smoothelin-like 2 Inhibits Coronin-1B to Stabilize the Apical Actin Cortex during Epithelial Morphogenesis., [RefSeq, PubMed]; Study concludes that Coronin 1B's coordination of filament formation by Arp2/3 complex and filament turnover by Cofilin is required for effective lamellipodial protrusion and cell migration., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RD45", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0071933 Arp2/3 complex binding;GO:0003779 actin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0005886 plasma membrane", "go_biological_process": "GO:0007015 actin filament organization;GO:0016477 cell migration;GO:0030036 actin cytoskeleton organization;GO:0051017 actin filament bundle assembly;GO:0090135 actin filament branching", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9BR76-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50750-1", "uniprot_id": [ { "id": "CDK9_HUMAN", "url": "https://www.uniprot.org/uniprot/P50750", "type": "external" } ], "mass": 42778.0, "length": 372, "protein_name": "Cyclin-dependent kinase 9", "gene_name": "CDK9", "organism": "Human", "refseq_name": "cyclin-dependent kinase 9", "refseq_ac": [ { "id": "NP_001252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001252", "type": "external" } ], "gene_names_uniprotkb": "CDK9; CDC2L4; TAK", "gene_names_refseq": "C-2k; CDC2L4; CDK9; CTK1; PITALRE; TAK", "protein_names_uniprotkb": "Cyclin-dependent kinase 9; 2.7.11.22; 2.7.11.23; C-2K; Cell division cycle 2-like protein kinase 4; Cell division protein kinase 9; Serine/threonine-protein kinase PITALRE; Tat-associated kinase complex catalytic subunit", "protein_names_refseq": "CDC2-related kinase; cell division cycle 2-like protein kinase 4; cell division protein kinase 9; cyclin-dependent kinase 9; serine/threonine protein kinase PITALRE; tat-associated kinase complex catalytic subunit", "tax_id": 9606, "disease": "renal carcinoma (Disease Ontology:DOID:4451); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:1025); (R-HSA-112382); (R-HSA-167152); (R-HSA-167200); (R-HSA-167238); (R-HSA-167243); (R-HSA-167246); (R-HSA-167287); (R-HSA-167290); (R-HSA-176034); (R-HSA-2173796); (R-HSA-674695); (R-HSA-6796648); (R-HSA-6807505); (R-HSA-75955); (R-HSA-9018519)", "pathway_count": 16, "publication_count": 390, "publication_id_list": "10022869;10022900;10199400;10199401;10393184;10500157;10574912;10757782;10828826;10866664;10873660;10903437;10912001;10958691;10984493;11007770;11010967;11013220;11034064;11103799;11112772;11136970;11145967;11165043;11237011;11274402;11313498;11313499;11345900;11350971;11410592;11424093;11427533;11452016;11575923;11581164;11682626;11809800;11856838;11859374;11884399;11971958;11988847;12037670;12065898;12115727;12150994;12414730;12446674;12498683;12574128;12612073;12676794;12718890;12917425;12959972;14627702;14631847;14657019;14675539;14701750;14701755;15001666;15100235;15150273;15276198;15282324;15343269;15345050;1535687;15489290;15514030;15564463;15781865;15965233;15986123;16009131;16046058;16048649;16087863;16109376;16109377;16113099;16239144;16278212;1630819;16308568;16319104;16427012;16885020;16901896;16980581;17013392;17081983;17234882;17277772;17344846;1739980;17438144;17452463;17463000;17495528;17510434;17637753;17643375;17666587;17690249;17956865;18079403;18187655;18219272;18249148;18250157;18256232;1829677;18322535;18358809;18362169;18423896;18476782;18483222;18533032;18566585;18568018;18691976;18728388;18762174;18805503;18829461;19001364;19020303;19029809;19098913;19238148;19274700;19295514;19321454;19369195;19383337;1939271;19575011;19651622;19667075;19718048;19741158;19757441;19844166;19914168;19952111;20068231;20081228;20159561;20201073;20219941;20220130;20457598;20471948;20493174;20498280;20535204;20570965;20595680;20682797;20851342;20930849;20980437;21098020;21106759;21127351;21151129;21200140;2125285;21406692;21445275;21448926;21484792;21533037;21573489;21779453;2181374;21835891;21878914;21934649;21940756;22012619;22056668;22137580;22195968;22231121;22252320;22265404;22275377;22441827;22492511;22545144;22704330;22727189;22988298;23029222;23064645;23140174;23145106;23152527;23166507;23172872;23192763;23303788;23403292;23435229;23538671;23658523;23723241;23906331;23932780;24097444;24167369;24270878;24275569;24360279;24366607;24371278;2449431;24524087;24528253;24554720;24662513;24714562;24715725;24735615;24854081;24885040;24973012;24997600;24998469;25233083;25296600;25365482;25429106;25433557;25505266;25542856;25561469;25576301;25633194;25663755;25674852;25675981;25712099;25728767;25810538;25909811;26056233;26153859;26154972;26178009;26204489;26462610;26479350;26659056;26727990;26992070;27062924;27189267;27397612;27600516;27846572;27862975;27886276;27918433;27920218;28178316;28218747;28228285;28426094;28446606;28510447;28539435;28539972;28832583;28834231;28878233;28904123;29095844;2919170;29242379;29331515;29335245;29393594;29437277;2944599;29493099;29557506;29632046;29632711;29743242;29786170;29789417;29792216;30134174;30237576;30315122;30410026;30429286;3045126;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31936902;32157095;32161166;32350084;32357974;32387766;32488085;32502341;3281094;32897882;32938616;32983136;33592498;33691108;33717175;33968037;34019948;34087483;34171305;34509645;34561969;34932366;34935961;3498214;35051231;35164752;35337136;35561310;35580925;36215666;36241641;36284347;36581221;3677090;37217939;38665916;38848777;38976490;39102635;39531497;39603239;7559524;7660122;7660129;7660130;7695608;7715707;7853496;7935485;7937828;8170997;8195246;8197458;8253082;8339931;8370526;8419924;8628262;8668525;8876171;9009278;9063748;9153304;9188510;9201922;9338790;9356449;9388265;9407024;9450929;9489704;9491887;9499409;9611253;9671459;9705341;9731700;9832505;9857195", "class_list": "", "function": "CDK9 phosphorylates RUNX1 to promote megakaryocytic fate in megakaryocytic-erythroid progenitors., [RefSeq, PubMed]; Human promoter directionality is determined by transcriptional initiation and the opposing activities of INTS11 and CDK9. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase involved in the regulation of transcription (PubMed:10574912, PubMed:10757782, PubMed:11145967, PubMed:11575923, PubMed:11809800, PubMed:11884399, PubMed:14701750, PubMed:16109376, PubMed:16109377, PubMed:20930849, PubMed:28426094, PubMed:29335245). Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP (PubMed:10574912, PubMed:10757782, PubMed:11145967, PubMed:11575923, PubMed:11809800, PubMed:11884399, PubMed:14701750, PubMed:16109376, PubMed:16109377, PubMed:16427012, PubMed:20930849, PubMed:28426094, PubMed:30134174). This complex is inactive when in the 7SK snRNP complex form (PubMed:10574912, PubMed:10757782, PubMed:11145967, PubMed:11575923, PubMed:11809800, PubMed:11884399, PubMed:14701750, PubMed:16109376, PubMed:16109377, PubMed:20930849, PubMed:28426094). Phosphorylates EP300, MYOD1, RPB1/POLR2A and AR and the negative elongation factors DSIF and NELFE (PubMed:10912001, PubMed:11112772, PubMed:12037670, PubMed:16427012, PubMed:20081228, PubMed:20980437, PubMed:21127351, PubMed:9857195). Regulates cytokine inducible transcription networks by facilitating promoter recognition of target transcription factors (e.g. TNF-inducible RELA/p65 activation and IL-6-inducible STAT3 signaling) (PubMed:17956865, PubMed:18362169). Promotes RNA synthesis in genetic programs for cell growth, differentiation and viral pathogenesis (PubMed:10393184, PubMed:11112772). P-TEFb is also involved in cotranscriptional histone modification, mRNA processing and mRNA export (PubMed:15564463, PubMed:19575011, PubMed:19844166, PubMed:28539972). Modulates a complex network of chromatin modifications including histone H2B monoubiquitination (H2Bub1), H3 lysine 4 trimethylation (H3K4me3) and H3K36me3; integrates phosphorylation during transcription with chromatin modifications to control co-transcriptional histone mRNA processing (PubMed:15564463, PubMed:19575011, PubMed:19844166). Also catalyzes phosphorylation of histone H1.4 (H1-4) at Ser-187' (H1.4S187Ph), a modification associated with transcription activation (PubMed:28539972). The CDK9/cyclin-K complex has also a kinase activity towards CTD of RNAP II and can substitute for CDK9/cyclin-T P-TEFb in vitro (PubMed:21127351). Replication stress response protein; the CDK9/cyclin-K complex is required for genome integrity maintenance, by promoting cell cycle recovery from replication arrest and limiting single-stranded DNA amount in response to replication stress, thus reducing the breakdown of stalled replication forks and avoiding DNA damage (PubMed:20493174). In addition, probable function in DNA repair of isoform 2 via interaction with KU70/XRCC6 (PubMed:20493174). Promotes cardiac myocyte enlargement (PubMed:20081228). RPB1/POLR2A phosphorylation on 'Ser-2' in CTD activates transcription (PubMed:21127351). AR phosphorylation modulates AR transcription factor promoter selectivity and cell growth. DSIF and NELF phosphorylation promotes transcription by inhibiting their negative effect (PubMed:10912001, PubMed:11112772, PubMed:9857195). The phosphorylation of MYOD1 enhances its transcriptional activity and thus promotes muscle differentiation (PubMed:12037670). Catalyzes phosphorylation of KAT5, promoting KAT5 recruitment to chromatin and histone acetyltransferase activity (PubMed:29335245)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and known as important cell cycle regulators. This kinase was found to be a component of the multiprotein complex TAK/P-TEFb, which is an elongation factor for RNA polymerase II-directed transcription and functions by phosphorylating the C-terminal domain of the largest subunit of RNA polymerase II. This protein forms a complex with and is regulated by its regulatory subunit cyclin T or cyclin K. HIV-1 Tat protein was found to interact with this protein and cyclin T, which suggested a possible involvement of this protein in AIDS. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulation and therapeutic potential of cyclin-dependent kinase 9 (CDK9) in sarcoma. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JU24;Q5JU25;Q5U006;Q96TF1", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0008023 transcription elongation factor complex;GO:0016020 membrane", "go_biological_process": "GO:0006281 DNA repair;GO:0006468 protein phosphorylation;GO:0008283 cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 39.4, "record_id": "P50750-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42857-1", "uniprot_id": [ { "id": "NSG1_HUMAN", "url": "https://www.uniprot.org/uniprot/P42857", "type": "external" } ], "mass": 20913.0, "length": 185, "protein_name": "Neuronal vesicle trafficking-associated protein 1", "gene_name": "NSG1", "organism": "Human", "refseq_name": "neuronal vesicle trafficking-associated protein 1 isoform a", "refseq_ac": [ { "id": "NP_001035190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035190", "type": "external" } ], "gene_names_uniprotkb": "NSG1; D4S234; NEEP21", "gene_names_refseq": "D4S234E; D4S234; NEEP21; NSG1; P21", "protein_names_uniprotkb": "Neuronal vesicle trafficking-associated protein 1; Neuron-enriched endosomal protein of 21 kDa; Neuron-specific protein family member 1", "protein_names_refseq": "brain neuron cytoplasmic protein 1; carboxyterminally EE-tagged neuron-enriched endosomal 21 kDa protein; neuron specific gene family member 1; neuron-enriched endosomal protein of 21 kDa; neuron-specific protein family member 1; neuronal vesicle trafficking-associated protein 1 isoform a; neuronal vesicle trafficking-associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27065)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1038/emboj.2013.79;20599942;20878061;23481700;23584533;25376768;25502872;25505266;25813380;30312582;31154438;32157095;32350084;35051231;35561310;38892156;9013775", "class_list": "", "function": "A novel p53-responsive gene D4S234E is accumulated in the ER and induces apoptosis in response to DNA damage., [RefSeq, PubMed]; MiR-107 Targets NSG1 to Regulate Hypopharyngeal Squamous Cell Carcinoma Progression through ERK Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the recycling mechanism in neurons of multiple receptors, including AMPAR, APP and L1CAM and acts at the level of early endosomes to promote sorting of receptors toward a recycling pathway. Regulates sorting and recycling of GRIA2 through interaction with GRIP1 and then contributes to the regulation of synaptic transmission and plasticity by affecting the recycling and targeting of AMPA receptors to the synapse (By similarity). Is required for faithful sorting of L1CAM to axons by facilitating trafficking from somatodendritic early endosome or the recycling endosome (By similarity). In an other hand, induces apoptosis via the activation of CASP3 in response to DNA damage (PubMed:20599942, PubMed:20878061)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; This review focuses on two closely related, neuron-enriched endosomal proteins: NEEP21 and Calcyon which perform distinct roles in regulating receptor endocytosis, recycling, and degradation--{REVIEW} Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DXC5;Q49AQ1", "ec_number_list": [], "go_molecular_function": "GO:0032051 clathrin light chain binding;GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0099627 neurotransmitter receptor cycle;GO:0098887 neurotransmitter receptor transport, endosome to postsynaptic membrane;GO:0006915 apoptotic process;GO:0042982 amyloid precursor protein metabolic process;GO:0016197 endosomal transport", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P42857-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q30201-1", "uniprot_id": [ { "id": "HFE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q30201", "type": "external" } ], "mass": 40108.0, "length": 348, "protein_name": "Hereditary hemochromatosis protein", "gene_name": "HFE", "organism": "Human", "refseq_name": "hereditary hemochromatosis protein isoform 12 precursor", "refseq_ac": [ { "id": "NP_001287678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287678", "type": "external" } ], "gene_names_uniprotkb": "HFE; HLAH", "gene_names_refseq": "HFE1; HFE; HH; HLA-H; MVCD7; TFQTL2", "protein_names_uniprotkb": "Hereditary hemochromatosis protein; HLA-H", "protein_names_refseq": "MHC class I-like protein HFE; hereditary hemochromatosis protein HLA-H; hereditary hemochromatosis protein isoform 12 precursor; high Fe", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); myelodysplastic syndrome (Disease Ontology:DOID:0050908); alcohol-associated liver disease (Disease Ontology:DOID:0070658); hepatic veno-occlusive disease (Disease Ontology:DOID:0080177); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); hemochromatosis type 1 (Disease Ontology:DOID:0111029); Alzheimer's disease (Disease Ontology:DOID:10652); iron deficiency anemia (Disease Ontology:DOID:11758); beta thalassemia (Disease Ontology:DOID:12241); dilated cardiomyopathy (Disease Ontology:DOID:12930); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); hemochromatosis (Disease Ontology:DOID:2352); ovarian cancer (Disease Ontology:DOID:2394); porphyria cutanea tarda (Disease Ontology:DOID:3132); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); peripheral vascular disease (Disease Ontology:DOID:341); liver disease (Disease Ontology:DOID:409); myelofibrosis (Disease Ontology:DOID:4971); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); osteoarthritis (Disease Ontology:DOID:8398); intestinal obstruction (Disease Ontology:DOID:8437); polymyalgia rheumatica (Disease Ontology:DOID:853); Crohn's disease (Disease Ontology:DOID:8778); diabetic retinopathy (Disease Ontology:DOID:8947); polycythemia vera (Disease Ontology:DOID:8997); colorectal cancer (Disease Ontology:DOID:9256); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); multiple myeloma (Disease Ontology:DOID:9538); aphthous stomatitis (Disease Ontology:DOID:9663); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:3077); (R-HSA-917977)", "pathway_count": 2, "publication_count": 108, "publication_id_list": "10.1101/2023.09.13.557529;10079302;10094552;10194428;10401000;10409623;10575540;10612845;10627122;10634155;10638746;10673304;10802645;10845668;11001625;11018711;11069625;11237011;11358357;11423500;11446670;11591868;11800564;12002748;12003382;12531241;12542741;12584229;12737937;12948285;14633868;14759258;15017669;15046077;15775751;15929796;15965644;16003728;16216474;16227996;16314188;16503999;16564538;16609065;16793765;17001480;17107905;17410459;17662945;17729390;17973580;18157833;18164971;18794901;19084217;19291797;19359997;20099304;20196837;20618438;20669231;21243428;21625954;21879820;23178241;23389292;23481700;23553028;23681799;24190977;24533143;25491948;26205815;26535689;26765307;26992070;27033261;27862975;28358914;30337524;30379171;30429286;31154438;31848261;32157095;32897882;33141586;33592498;34171305;35051231;35580925;37074911;38329447;38479735;38551816;38786080;39128984;6141558;6309857;8696333;9024376;9106528;9149941;9425935;9465039;9546397;9548560;9620340", "class_list": "", "function": "Beta2-microglobulin induced apoptosis of tumor cells via the ERK signaling pathway by directly interacting with HFE in HER2-overexpressing breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Clinical characteristics of HFE C282Y/H63D compound heterozygotes identified in a specialty practice: key differences from HFE C282Y homozygotes., [RefSeq, PubMed]; HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank. Publication Status: Online-Only, [RefSeq, PubMed]; Insights into PCSK9-LDLR Regulation and Trafficking via the Differential Functions of MHC-I Proteins HFE and HLA-C. Publication Status: Online-Only, [RefSeq, PubMed]; Serum ferritin level is associated with liver fibrosis and incident liver-related outcomes independent of HFE genotype in the general population., [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. [provided by RefSeq, May 2022]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 39, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2CKL0;O75929;O75930;O75931;Q17RT0;Q96KU5;Q96KU6;Q96KU7;Q96KU8;Q9HC64;Q9HC68;Q9HC70;Q9HC83", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0030881 beta-2-microglobulin binding;GO:0039706 co-receptor binding;GO:1990459 transferrin receptor binding;GO:0141109 transporter activator activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0045177 apical part of cell;GO:0045178 basal part of cell", "go_biological_process": "GO:0002725 negative regulation of T cell cytokine production;GO:0007166 cell surface receptor signaling pathway;GO:0010628 positive regulation of gene expression;GO:0006879 intracellular iron ion homeostasis;GO:0030509 BMP signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q30201-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49716-1", "uniprot_id": [ { "id": "CEBPD_HUMAN", "url": "https://www.uniprot.org/uniprot/P49716", "type": "external" } ], "mass": 28467.0, "length": 269, "protein_name": "CCAAT/enhancer-binding protein delta", "gene_name": "CEBPD", "organism": "Human", "refseq_name": "CCAAT/enhancer-binding protein delta", "refseq_ac": [ { "id": "NP_005186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005186", "type": "external" } ], "gene_names_uniprotkb": "CEBPD", "gene_names_refseq": "C/EBP-delta; CEBPD; CELF; CRP3; NF-IL6-beta", "protein_names_uniprotkb": "CCAAT/enhancer-binding protein delta; C/EBP delta; NF-IL6-beta; Nuclear factor NF-IL6-beta", "protein_names_refseq": "CCAAT/enhancer binding protein (C/EBP), delta; CCAAT/enhancer-binding protein delta; c/EBP delta; nuclear factor NF-IL6-beta", "tax_id": 9606, "disease": "prolactinoma (Disease Ontology:DOID:5394)", "pathway": " (hsa:1052); (R-HSA-381340); (R-HSA-6785807); (R-HSA-9610379)", "pathway_count": 4, "publication_count": 146, "publication_id_list": "10023775;10075656;10219247;10369418;10425206;10510379;10586089;10867011;11058569;11084045;11095972;11104795;11120780;11278437;11278729;11356008;11404481;11463377;11872672;11960372;12213831;12223527;12242343;12600988;12829629;12832402;14634100;14712222;15116091;15261459;15273253;15584925;15805299;15850785;15869882;15919796;15950906;16007214;16048438;16107692;16205632;16236134;16380219;16397018;16397300;16451196;16510571;16540365;16606674;17011499;1741402;17427945;17458857;17572495;17980149;18243101;18353781;18447642;18644974;18931025;19043829;19115207;19124156;19172745;19185846;19397496;19640981;20101261;20493732;21102457;21252155;21689689;21730069;21937440;21994466;22046235;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23239344;23455323;23555662;23967200;23993701;24097101;24714562;24743777;25234944;25576301;25680545;26992070;27846572;29242379;29331515;29557506;30429286;31154438;31844290;31848261;32387766;32938616;32983136;33592498;33968037;34509645;35051231;35580925;36010968;36215666;36675048;38419037;38627816;38925326;7510216;7512451;7529288;7795521;7796300;7898939;7907877;8085155;8314590;8325954;8602263;8621622;8643605;8663118;8668165;8706692;8770873;8797861;8816495;8970730;9013879;9065481;9454824;9651359;9723655;9736340;9822675;9836620;9874564", "class_list": "", "function": "C/EBP-Family Redundancy Determines Patient Survival and Lymph Node Involvement in PDAC. Publication Status: Online-Only, [RefSeq, PubMed]; CCAAT enhancer binding protein delta activates vesicle associated membrane protein 3 transcription to enhance chemoresistance and extracellular PD-L1 expression in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of MMP8 effectively alleviates manic-like behavior and reduces neuroinflammation by modulating astrocytic CEBPD. Publication Status: Online-Only, [RefSeq, PubMed]; Systematic transcriptome profiling of hPSC-derived osteoblasts unveils CORIN's mastery in governing osteogenesis through CEBPD modulation., [RefSeq, PubMed]; The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010]., [RefSeq]; Transcription activator that recognizes two different DNA motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers (PubMed:16397300). Important transcription factor regulating the expression of genes involved in immune and inflammatory responses (PubMed:16397300, PubMed:1741402). Transcriptional activator that enhances IL6 transcription alone and as heterodimer with CEBPB (PubMed:1741402)., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14937;Q2M2X9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0045595 regulation of cell differentiation;GO:0140467 integrated stress response signaling", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P49716-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60468-1", "uniprot_id": [ { "id": "SC61B_HUMAN", "url": "https://www.uniprot.org/uniprot/P60468", "type": "external" } ], "mass": 9974.0, "length": 96, "protein_name": "Protein transport protein Sec61 subunit beta", "gene_name": "SEC61B", "organism": "Human", "refseq_name": "protein transport protein Sec61 subunit beta", "refseq_ac": [ { "id": "NP_006799", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006799", "type": "external" } ], "gene_names_uniprotkb": "SEC61B", "gene_names_refseq": "SEC61B", "protein_names_uniprotkb": "Protein transport protein Sec61 subunit beta", "protein_names_refseq": "SEC61 translocon beta subunit; Sec61 beta subunit; Sec61 complex, beta subunit; protein translocation complex beta; protein transport protein SEC61 beta subunit; protein transport protein Sec61 subunit beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:10952); (R-HSA-1236974); (R-HSA-1799339); (R-HSA-9609523)", "pathway_count": 4, "publication_count": 139, "publication_id_list": "11237011;11964406;12475939;12853463;15240697;15708368;16083285;16469117;16777091;17081983;17287340;17382883;17924679;18166647;18455985;18477612;18578522;18669648;18691976;18692471;18707149;18767875;18991276;19121997;19217269;19413330;19415658;19651622;19664995;20068231;20166139;20375064;20444697;20676083;21044946;21406692;21444755;21466504;21636303;21743475;22153078;22424782;22544926;23041287;23129660;23142665;23186163;23246001;23481700;23533635;23613522;24275569;24392163;24715725;25083866;25179605;25415308;25418920;25535373;25645385;25713138;25880248;25892735;26154972;26375851;26675233;26992070;27044890;27193484;27226539;27458190;27600516;27862975;28063628;28104892;28218747;28228285;28375157;28510447;28649982;28832583;28904123;29242231;29242379;29351928;29393594;29437277;29508533;29557506;29632046;30315122;30410026;30429286;30524438;30779550;31154438;31611695;31844290;31848261;31937595;32157095;32265295;32357974;32488085;32502341;32820719;32897882;32938616;32983136;33123756;33141586;33214551;33392160;33465208;33537174;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36261522;36284347;36697828;38665916;40596516;8107851;9631292", "class_list": "", "function": "Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across the endoplasmic reticulum (ER) (PubMed:12475939). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides (PubMed:12475939). The SEC61 channel is also involved in ER membrane insertion of transmembrane proteins: it mediates membrane insertion of the first few transmembrane segments of proteins, while insertion of subsequent transmembrane regions of multi-pass membrane proteins is mediated by the multi-pass translocon (MPT) complex (PubMed:32820719, PubMed:36261522). The SEC61 channel cooperates with the translocating protein TRAM1 to import nascent proteins into the ER (PubMed:19121997)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the beta-subunit protein. The Sec61 subunits are also observed in the post-ER compartment, suggesting that these proteins can escape the ER and recycle back. There is evidence for multiple polyadenylated sites for this transcript. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "P38390;P38391;Q6IBC1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0043022 ribosome binding;GO:0048408 epidermal growth factor binding", "go_cellular_component": "GO:0031205 endoplasmic reticulum Sec complex;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0036503 ERAD pathway;GO:0031204 post-translational protein targeting to membrane, translocation;GO:0006616 SRP-dependent cotranslational protein targeting to membrane, translocation;GO:0030970 retrograde protein transport, ER to cytosol;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "P60468-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3LI66-1", "uniprot_id": [ { "id": "KRA62_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3LI66", "type": "external" } ], "mass": 6654.0, "length": 62, "protein_name": "Keratin-associated protein 6-2", "gene_name": "KRTAP6-2", "organism": "Human", "refseq_name": "keratin-associated protein 6-2", "refseq_ac": [ { "id": "NP_853635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853635", "type": "external" } ], "gene_names_uniprotkb": "KRTAP6-2; KAP6.2", "gene_names_refseq": "KAP6.2; KRTAP6-2", "protein_names_uniprotkb": "Keratin-associated protein 6-2", "protein_names_refseq": "keratin-associated protein 6-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:337967); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005882 intermediate filament", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q3LI66-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14191-1", "uniprot_id": [ { "id": "WRN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14191", "type": "external" } ], "mass": 162461.0, "length": 1432, "protein_name": "Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN", "gene_name": "WRN", "organism": "Human", "refseq_name": "bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN", "refseq_ac": [ { "id": "NP_000544", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000544", "type": "external" } ], "gene_names_uniprotkb": "WRN; RECQ3; RECQL2", "gene_names_refseq": "RECQ3; RECQL2; RECQL3; WRN", "protein_names_uniprotkb": "Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN; DNA 3'-5' helicase WRN; DNA helicase, RecQ-like type 3; RecQ protein-like 2; Werner syndrome protein", "protein_names_refseq": "DNA helicase, RecQ-like type 3; Werner syndrome ATP-dependent helicase; Werner syndrome RecQ like helicase; Werner syndrome protein; Werner syndrome, RecQ helicase-like; bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN; exonuclease WRN; recQ protein-like 2", "tax_id": 9606, "disease": "diffuse scleroderma (Disease Ontology:DOID:1580); breast cancer (Disease Ontology:DOID:1612); coronary artery disease (Disease Ontology:DOID:3393); restrictive cardiomyopathy (Disease Ontology:DOID:397); Werner syndrome (Disease Ontology:DOID:5688); myocardial infarction (Disease Ontology:DOID:5844); colorectal cancer (Disease Ontology:DOID:9256); senile cataract (Disease Ontology:DOID:9669)", "pathway": " (hsa:7486); (R-HSA-174414); (R-HSA-174437); (R-HSA-3108214); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 19, "publication_count": 371, "publication_id_list": "10049920;10069711;10206685;10212258;10212265;10220139;10373512;10435622;10438626;10500146;10551859;10570149;10570174;10574707;10604467;10608806;10673500;10673501;10710310;10733923;10744977;10801132;10839545;10856253;10859164;10884347;10921897;11006276;11080452;11139606;11161804;11237011;11239457;11252893;11301010;11376695;11390642;11447225;11459987;11511362;11546806;11551930;11571269;11698410;11740489;11751635;11780126;11792325;11832208;11863428;11889051;11889123;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12545175;12578958;12686547;12702766;12704184;12721304;12750383;12791985;12851404;12912992;12914926;14527420;14576433;14702041;14716019;14734547;15053879;15175327;15189136;15190204;15355988;15359272;15485900;15608651;15665856;15703751;15707391;15823533;15829507;15866171;15916957;15940266;15959518;16030353;16148040;16153896;16322561;16327781;16337601;16339893;16360315;16478998;16501249;16530042;16608850;16622405;16626738;16673358;16688858;16723399;16738949;16793542;16810316;16885023;16959974;17108107;17114795;17148451;17200668;17200671;17200672;17289582;17349958;17420451;17515903;17525332;17563354;17575048;17591690;17693435;17928296;17961633;17962301;17965729;17996710;17996711;18171670;18317453;18452278;18490454;18539610;18541667;18593712;18596042;18625722;18669648;18670736;18691969;18708356;18757400;18805091;18923075;18957201;18971343;18987736;19074197;19121998;19205873;19268590;19283071;19287951;19357644;19369211;19413330;19419957;19584259;19596236;19596686;19609323;19622798;19652551;19664994;19690332;19706679;19779455;19941829;19956565;19965871;20016594;20016603;20154705;20159463;20190268;20207730;20233725;20516064;20551483;20705237;20729832;20729858;20729859;20871615;20871616;20959462;20965415;21052091;21098080;21147198;21240188;21263215;21284855;21317932;21325134;21335604;21406692;21520333;21550342;21565612;21639834;21659603;21680713;21777809;21804533;22021381;22024395;22037268;22194698;22231403;22460582;22508508;22593209;22635276;22645308;22661229;22661230;22751501;22792074;22977173;23000554;23149936;23180761;23186163;23301498;23345434;23468639;23481700;23485397;23509288;23604072;23676219;23686288;23731732;23750026;23754376;23810717;23871147;24013206;24027577;24038470;24076221;24141787;24145406;24308539;24371268;24429382;24485656;24509834;24714562;24715725;24782567;24831703;24874608;24944800;25113031;25114211;25122754;25218447;25355595;25418920;25558984;25576301;25645385;25659039;25880248;26145171;26154972;26375851;26695548;26728094;26811146;26992070;27063109;27634057;27846572;27849570;27899578;27920218;28063628;28089683;28158555;28218747;28228285;28240985;28319063;28411811;28514659;28649982;28832583;28834231;28855257;28904123;29165669;29242379;29393594;29493099;29508533;29557506;29608566;29632046;30289697;30311374;30315122;30429286;31141682;31217245;31530632;31586400;31636395;31733588;31757951;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32732220;32938616;32983136;33141586;33195396;33199508;33298915;33592498;33912179;33936100;33968037;33978741;33981976;34087483;34440403;34509645;35051231;35494241;35561310;35580925;36172813;36583333;37932011;37938771;38503516;38874681;8602509;8702565;9021029;9224595;9288107;9412458;9450180;9452416;9611231;9618508;9705271;9756909;9837724;9885291;9925639;9989816", "class_list": "", "function": "Comprehensive mapping of cell fates in microsatellite unstable cancer cells supports dual targeting of WRN and ATR., [RefSeq, PubMed]; Multifunctional enzyme that has magnesium and ATP-dependent 3'-5' DNA-helicase activity on partially duplex substrates (PubMed:9224595, PubMed:9288107, PubMed:9611231). Also has 3'->5' exonuclease activity towards double-stranded (ds)DNA with a 5'-overhang (PubMed:11863428). Has no nuclease activity towards single-stranded (ss)DNA or blunt-ended dsDNA (PubMed:11863428). Helicase activity is most efficient with (d)ATP, but (d)CTP will substitute with reduced efficiency; strand displacement is enhanced by single-strand binding-protein (heterotrimeric replication protein A complex, RPA1, RPA2, RPA3) (PubMed:9611231). Binds preferentially to DNA substrates containing alternate secondary structures, such as replication forks and Holliday junctions. May play an important role in the dissociation of joint DNA molecules that can arise as products of homologous recombination, at stalled replication forks or during DNA repair. Alleviates stalling of DNA polymerases at the site of DNA lesions. Plays a role in the formation of DNA replication focal centers; stably associates with foci elements generating binding sites for RP-A (By similarity). Plays a role in double-strand break repair after gamma-irradiation (PubMed:9224595, PubMed:9288107, PubMed:9611231). Unwinds some G-quadruplex DNA (d(CGG)n tracts); unwinding seems to occur in both 5'-3' and 3'-5' direction and requires a short single-stranded tail (PubMed:10212265). d(CGG)n tracts have a propensity to assemble into tetraplex structures; other G-rich substrates from a telomeric or IgG switch sequence are not unwound (PubMed:10212265). Depletion leads to chromosomal breaks and genome instability (PubMed:33199508)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; RecQ helicase expression in patients with telomeropathies. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]., [RefSeq]; WRN exonuclease imparts high fidelity on translesion synthesis by Y family DNA polymerases. Publication Status: Online-Only, [RefSeq, PubMed]; Werner syndrome protein works as a dimer for unwinding and replication fork regression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1KYY9", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0043138 3'-5' DNA helicase activity;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0030145 manganese ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0032201 telomere maintenance via semi-conservative replication;GO:1902570 protein localization to nucleolus;GO:0006284 base-excision repair;GO:0000723 telomere maintenance;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 37.4, "record_id": "Q14191-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09668-1", "uniprot_id": [ { "id": "CATH_HUMAN", "url": "https://www.uniprot.org/uniprot/P09668", "type": "external" } ], "mass": 37394.0, "length": 335, "protein_name": "Pro-cathepsin H", "gene_name": "CTSH", "organism": "Human", "refseq_name": "pro-cathepsin H isoform a preproprotein", "refseq_ac": [ { "id": "NP_004381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004381", "type": "external" } ], "gene_names_uniprotkb": "CTSH; CPSB", "gene_names_refseq": "ACC-4; ACC-5; ACC4; ACC5; CPSB; CTSH", "protein_names_uniprotkb": "Pro-cathepsin H", "protein_names_refseq": "N-benzoylarginine-beta-naphthylamide hydrolase; aleurain; cathepsin B3; cathepsin BA; pro-cathepsin H isoform a preproprotein; pro-cathepsin H", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); renal fibrosis (Disease Ontology:DOID:0050855); stroke (Disease Ontology:DOID:0051061); mandibulofacial dysostosis with alopecia (Disease Ontology:DOID:0060365); polycystic kidney disease (Disease Ontology:DOID:0080322); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); nephrotic syndrome (Disease Ontology:DOID:1184); velocardiofacial syndrome (Disease Ontology:DOID:12583); Huntington's disease (Disease Ontology:DOID:12858); impotence (Disease Ontology:DOID:1875); transitional cell carcinoma (Disease Ontology:DOID:2671); glioblastoma (Disease Ontology:DOID:3068); myocardial infarction (Disease Ontology:DOID:5844); migraine (Disease Ontology:DOID:6364); pulmonary hypertension (Disease Ontology:DOID:6432); lung disease (Disease Ontology:DOID:850); hyperhomocysteinemia (Disease Ontology:DOID:9279); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:1512); (R-HSA-2132295); (R-HSA-5683826); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 172, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10072072;10368295;10480952;10485905;10496952;10540230;10580105;10593899;10625644;10631941;10631952;10639150;10748235;10809954;11237011;11278984;11529500;11563989;11684289;11790530;11796715;11813165;11853874;12078484;12185598;12198549;12742663;12748383;12882447;1325798;1339284;1415726;14731593;1568474;15749704;15911768;15926889;16006481;16181339;16199866;16242130;1636732;16423266;16618111;16630564;16824007;16959974;17142755;17283181;17496061;18020944;18046453;18292509;18692472;1898081;19100526;19144824;19159218;1928448;1956401;19564404;19824815;20054143;20147294;20338813;20418254;21116285;2121367;21441454;2190094;22424782;23069847;23090970;23590306;23650620;23684610;23719902;23830514;2391366;23922714;24190977;24715725;24743970;2515193;25424900;25502872;25505266;25548167;2587265;2610270;26154972;27846572;28218747;28467828;2849458;28904123;29317506;29437277;29557506;2995821;30315122;3037072;30573663;30626607;31217245;31611695;31844290;31848261;32157095;32350084;32357974;32502341;32814070;32938616;32983136;33392160;3342889;33592498;3366248;33717175;33912179;33936100;33992646;34357683;34433824;34631;34932366;35051231;35154160;35251023;35580925;36739351;37074911;37148981;3755136;3801783;7481823;7592972;7597036;7650016;7667286;8046351;8134367;8145819;8148318;8313912;8314870;8397411;8415765;8428971;8522976;8527267;8636114;8642258;8687433;8692836;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9813380", "class_list": "glycogene", "function": "Cathepsin H: Molecular characteristics and clues to function and mechanism. Review article, [RefSeq, PubMed]; Functional genomics identify causal variant underlying the protective CTSH locus for Alzheimer's disease., [RefSeq, PubMed]; Genetic and environmental factors regulate the type 1 diabetes gene CTSH via differential DNA methylation., [RefSeq, PubMed]; Important for the overall degradation of proteins in lysosomes., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The Rac2 GTPase contributes to cathepsin H-mediated protection against cytokine-induced apoptosis in insulin-secreting cells., [RefSeq, PubMed]; The protein encoded by this gene is a lysosomal cysteine proteinase important in the overall degradation of lysosomal proteins. It is composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. The encoded protein, which belongs to the peptidase C1 protein family, can act both as an aminopeptidase and as an endopeptidase. Increased expression of this gene has been correlated with malignant progression of prostate tumors. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 458, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 20, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2RBK0;Q96NY6;Q9BUM7", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0070324 thyroid hormone binding", "go_cellular_component": "GO:0001520 outer dense fiber;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0006955 immune response;GO:0007283 spermatogenesis;GO:0010628 positive regulation of gene expression;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 19.2, "record_id": "P09668-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T5A4-1", "uniprot_id": [ { "id": "CF276_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T5A4", "type": "external" } ], "mass": 19350.0, "length": 169, "protein_name": "Cilia- and flagella-associated protein 276", "gene_name": "CFAP276", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 276 isoform 3", "refseq_ac": [ { "id": "NP_001116433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116433", "type": "external" } ], "gene_names_uniprotkb": "CFAP276; C1orf194", "gene_names_refseq": "C10orf194; C1orf194; CFAP276", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 276", "protein_names_refseq": "cilia- and flagella-associated protein 276 isoform 3; protein CFAP276; uncharacterized protein C1orf194", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease intermediate type (Disease Ontology:DOID:0050543)", "pathway": " (hsa:127003)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;31199454;32592472;36191189;8889548", "class_list": "", "function": "C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model. Erratum:[Hum Mol Genet. 2024 Jun 5;33(12):1105. doi: 10.1093/hmg/ddae078. PMID: 38668692], [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). May play an important role for the maintenance of myelin-axon integrity (By similarity). May affect intracellular Ca(2+) homeostasis (PubMed:31199454)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The identification of two heterozygous missense mutations in the C1orf194 gene at 1p21.2-p13.2 with Charcot-Marie-Tooth disease are reported Erratum:[Brain. 2019 Oct 1;142(10):e56. doi: 10.1093/brain/awz237. PMID: 31359062], [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T5A3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160112 axonemal B tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5T5A4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRR3-1", "uniprot_id": [ { "id": "C42S2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRR3", "type": "external" } ], "mass": 9223.0, "length": 84, "protein_name": "CDC42 small effector protein 2", "gene_name": "CDC42SE2", "organism": "Human", "refseq_name": "CDC42 small effector protein 2", "refseq_ac": [ { "id": "NP_001033791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033791", "type": "external" } ], "gene_names_uniprotkb": "CDC42SE2; SPEC2", "gene_names_refseq": "CDC42SE2; SPEC2", "protein_names_uniprotkb": "CDC42 small effector protein 2; Small effector of CDC42 protein 2", "protein_names_refseq": "CDC42 small effector protein 2; non-kinase Cdc42 effector protein SPEC2; small effector of CDC42 protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56990); (R-HSA-9013148)", "pathway_count": 2, "publication_count": 227, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10816584;10873802;11007481;11058585;11085924;11149925;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12351724;12432077;12464619;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15728722;15840583;15850391;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16968698;17030554;17045588;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18786931;18804346;18835169;18838382;18929667;19605563;19934221;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22970203;23200924;23255595;23406282;23434736;23572525;23718289;23833064;24086303;24259668;24335996;24352656;24584464;24715725;24933155;24996924;25024229;25211221;25418920;25704760;25721503;25795300;25862245;25892735;25963737;26129894;26299518;26529257;26598554;26887924;26992070;27096001;27145964;27216196;27481945;27555588;27798618;27846572;27920218;28028151;28196833;28825699;28832583;28834231;28860633;28904123;29242379;29393594;29557506;29632046;30061681;30410026;30626607;30853411;31154438;31217245;31530632;31844290;31848261;31871319;32157095;32203420;32387766;32488085;33936100;34357683;34932366;35154160;35580925;36241641;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9829970;9843499;9846874", "class_list": "", "function": "Cdc42 is an important regulator of corneal epithelial wound repair. To promote healing, Cdc42 may interact with receptor tyrosine kinase-activated signaling cascades that participate in cell migration and cell-cycle progression. Publication Status: Online-Only, [RefSeq, PubMed]; Haplotypes underlying the SPEC2/PDZ-GEF2/acyl-CoA synthetase long-chain family member 6 region are associated with schizophrenia GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Recruitment of SPEC2 within Jurkat T cells to the antigen-presenting cell interface occurred following incubation with staphylococcal enterotoxin E superantigen-loaded B cells and colocalized there with F-actin and Cdc42. T cell receptor, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R622;Q4KMT9", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0006909 phagocytosis;GO:0035023 regulation of Rho protein signal transduction;GO:0008360 regulation of cell shape;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q9NRR3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP23-1", "uniprot_id": [ { "id": "CALM1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP23", "type": "external" } ], "mass": 16838.0, "length": 149, "protein_name": "Calmodulin-1", "gene_name": "CALM1; CALM2; CALM3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CALM1; CALM2; CALM3; CALM2; CALM3; CALM; CAM1; CAM", "gene_names_refseq": "", "protein_names_uniprotkb": "Calmodulin-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); catecholaminergic polymorphic ventricular tachycardia 4 (Disease Ontology:DOID:0060678); long QT syndrome 14 (Disease Ontology:DOID:0110655); Alzheimer's disease (Disease Ontology:DOID:10652); cancer (Disease Ontology:DOID:162); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:801); (hsa:805); (hsa:808); (R-HSA-111932); (R-HSA-111933); (R-HSA-111957); (R-HSA-111997); (R-HSA-114608); (R-HSA-1445148); (R-HSA-1474151); (R-HSA-163615); (R-HSA-180024); (R-HSA-1855204); (R-HSA-2025928); (R-HSA-203615); (R-HSA-2151201); (R-HSA-2514859); (R-HSA-2672351); (R-HSA-2871809); (R-HSA-4086398); (R-HSA-418359); (R-HSA-425561); (R-HSA-438066); (R-HSA-442720); (R-HSA-442729); (R-HSA-442982); (R-HSA-445355); (R-HSA-451308); (R-HSA-5210891); (R-HSA-5218920); (R-HSA-5218921); (R-HSA-5576892); (R-HSA-5578775); (R-HSA-5607763); (R-HSA-5626467); (R-HSA-5627123); (R-HSA-5673000); (R-HSA-5673001); (R-HSA-6802946); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-70221); (R-HSA-8876725); (R-HSA-9009391); (R-HSA-9022535); (R-HSA-9022692); (R-HSA-936837); (R-HSA-9617324); (R-HSA-9619229); (R-HSA-9619483); (R-HSA-9620244); (R-HSA-9648002); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9664323); (R-HSA-983695); (R-HSA-9856530); (R-HSA-9948001); (R-HSA-9956593)", "pathway_count": 59, "publication_count": 1135, "publication_id_list": 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"class_list": "", "function": "(Microbial infection) Required for C.violaceum CopC and S.flexneri OspC3 arginine ADP-riboxanase activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; (Microbial infection) Required for Legionella pneumophila SidJ glutamylase activity., [UniProtKB, PubMed]; Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin-dependent protein kinase type II (CaMK2), and phosphatases (PubMed:16760425, PubMed:23893133, PubMed:26969752, PubMed:27165696, PubMed:28890335, PubMed:31454269, PubMed:35568036). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Is a regulator of voltage-dependent L-type calcium channels (PubMed:31454269). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696). Forms a potassium channel complex with KCNQ1 and regulates electrophysiological activity of the channel via calcium-binding (PubMed:25441029). Acts as a sensor to modulate the endoplasmic reticulum contacts with other organelles mediated by VMP1:ATP2A2 (PubMed:28890335). Component of the silencing factor of the integrated stress response (SIFI) complex, a multiprotein complex required to turn off the mitochondrial stress response after a specific stress event has been resolved (PubMed:38297121, PubMed:40328314, PubMed:40875847)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P02593;P62158;P70667;P99014;Q13942;Q53S29;Q61379;Q61380;Q96HK3", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0048306 calcium-dependent protein binding;GO:0005246 calcium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0044305 calyx of Held;GO:0000922 spindle pole;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0097720 calcineurin-mediated signaling;GO:1901842 negative regulation of high voltage-gated calcium channel activity;GO:0007186 G protein-coupled receptor signaling pathway;GO:0051592 response to calcium ion;GO:0021762 substantia nigra development", "synthesized_glycan_count": 0, "hit_score": 113.8, "record_id": "P0DP23-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01583-1", "uniprot_id": [ { "id": "IL1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P01583", "type": "external" } ], "mass": 30607.0, "length": 271, "protein_name": "Interleukin-1 alpha", "gene_name": "IL1A", "organism": "Human", "refseq_name": "interleukin-1 alpha precursor", "refseq_ac": [ { "id": "NP_000566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000566", "type": "external" } ], "gene_names_uniprotkb": "IL1A; IL1F1", "gene_names_refseq": "IL-1 alpha; IL-1A; IL1-ALPHA; IL1A; IL1F1; IL1", "protein_names_uniprotkb": "Interleukin-1 alpha; Hematopoietin-1; IL-1 alpha", "protein_names_refseq": "hematopoietin-1; interleukin-1 alpha precursor; preinterleukin 1 alpha; pro-interleukin-1-alpha", "tax_id": 9606, "disease": "aspiration pneumonia (Disease Ontology:DOID:0050152); urinary tract infection (Disease Ontology:DOID:0080784); Graves ophthalmopathy (Disease Ontology:DOID:0081120); graft-versus-host disease (Disease Ontology:DOID:0081267); endometritis (Disease Ontology:DOID:1002); keratoconus (Disease Ontology:DOID:10126); common cold (Disease Ontology:DOID:10459); Alzheimer's disease (Disease Ontology:DOID:10652); otitis media (Disease Ontology:DOID:10754); cholesteatoma of middle ear (Disease Ontology:DOID:10964); corneal edema (Disease Ontology:DOID:11030); osteoporosis (Disease Ontology:DOID:11476); beta thalassemia (Disease Ontology:DOID:12241); vitiligo (Disease Ontology:DOID:12306); varicocele (Disease Ontology:DOID:12337); uveitis (Disease Ontology:DOID:13141); cholestasis (Disease Ontology:DOID:13580); Fabry disease (Disease Ontology:DOID:14499); cystic fibrosis (Disease Ontology:DOID:1485); pancreatic cancer (Disease Ontology:DOID:1793); asthma (Disease Ontology:DOID:2841); IgA glomerulonephritis (Disease Ontology:DOID:2986); interstitial lung disease (Disease Ontology:DOID:3082); pulmonary fibrosis (Disease Ontology:DOID:3770); lung non-small cell carcinoma (Disease Ontology:DOID:3908); hyperglycemia (Disease Ontology:DOID:4195); Schnitzler syndrome (Disease Ontology:DOID:4371); pneumonia (Disease Ontology:DOID:552); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); periodontitis (Disease Ontology:DOID:824); osteoarthritis (Disease Ontology:DOID:8398); lung disease (Disease Ontology:DOID:850); cholesteatoma (Disease Ontology:DOID:869); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); diabetic retinopathy (Disease Ontology:DOID:8947); acute myeloid leukemia (Disease Ontology:DOID:9119); iridocyclitis (Disease Ontology:DOID:9383); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:3552); (R-HSA-2559582); (R-HSA-448706); (R-HSA-5620971); (R-HSA-6783783); (R-HSA-6785807); (R-HSA-9020702); (R-HSA-9660826)", "pathway_count": 8, "publication_count": 270, "publication_id_list": "10023775;10075690;10092818;10219247;10369418;10415057;10432220;10433356;10510379;10514433;10548110;10586089;10702308;10854325;10867011;10882101;10918611;11058569;11084045;11094434;11104795;11114305;11120780;11278437;11278729;11313357;11340163;11356008;11404481;11463377;11960013;11960372;11991722;12223527;12242343;12496252;12538665;12554859;12600988;12626585;12791687;12832402;12832467;12860405;1460289;14625308;14634100;14679213;14687581;14712222;15116091;15261459;15584925;15679580;1574116;15774718;15805299;15869882;15917247;15919823;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;16626623;16897187;16982608;17135271;17141195;17427945;17458857;17507369;17572495;17641058;17675297;17890055;17932347;17997719;18070982;18180283;18243101;18267069;1828071;1833184;18353781;18411265;18438411;18447642;18555777;18555778;18644974;19124156;19185846;19264966;19397496;1940369;1940799;19805069;19859801;19903815;20145033;20351173;20452968;20493732;21102457;2115174;21252155;21270123;2139180;2147937;21689689;21730069;2183031;21937440;21979375;21994466;22046235;22178396;22205702;22383755;22634325;22693070;22851691;23086340;23124025;23172665;23455323;2346741;23481700;23555662;23817414;23846687;23878142;23967200;2405250;24097101;24706756;24714562;24743777;25234944;26116704;2635664;26375003;26439902;26508369;26728094;27281216;27383986;27418190;27466718;27920218;28045099;28392147;28459430;29177860;29242379;2946959;2950091;29539421;29557506;29891674;2989698;29898893;2994016;29990470;30143555;30976076;31113851;31154438;3126184;31844290;31998317;32109412;32157095;32188940;32272059;32367036;3258335;3281727;32820063;32983136;3485152;3486405;3493774;38678626;38723369;38777211;39147560;39222755;7510216;7512027;7512451;7516408;7529288;7543512;7593617;7594602;7628694;7684412;7687627;7795521;7796300;7898939;7902377;7907877;8044845;8063757;8085155;8102388;8120391;8163946;8186324;8234276;8301137;8327496;8332913;8346241;8384717;8413215;8413306;8537680;8599092;8602263;8617720;8621622;8662928;8663118;8668165;8688489;8734788;8742066;8797861;8816495;8837778;8871669;8884985;8897595;8910398;8921438;8939459;8946277;8999548;9013879;9013939;9121587;9312047;9346484;9354687;9371760;9430229;9449724;9550426;9651359;9723655;9736340;9794440;9822675;9836587;9859996;9874564;9918218;9990852;9990853", "class_list": "", "function": "Association between IL-6 -174 G/C (rs1800795) and IL-1A -889 C/T (rs1800587) cytokine variants with polycystic ovary syndrome in Iranian women: A case-control study., [RefSeq, PubMed]; Correlations of IL-1 and IL-6 Gene polymorphisms with hypertrophic cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Cytokine constitutively present intracellularly in nearly all resting non-hematopoietic cells that plays an important role in inflammation and bridges the innate and adaptive immune systems (PubMed:26439902). After binding to its receptor IL1R1 together with its accessory protein IL1RAP, forms the high affinity interleukin-1 receptor complex (PubMed:17507369, PubMed:2950091). Signaling involves the recruitment of adapter molecules such as MYD88, IRAK1 or IRAK4 (PubMed:17507369). In turn, mediates the activation of NF-kappa-B and the three MAPK pathways p38, p42/p44 and JNK pathways (PubMed:14687581). Within the cell, acts as an alarmin and cell death results in its liberation in the extracellular space after disruption of the cell membrane to induce inflammation and alert the host to injury or damage (PubMed:15679580). In addition to its role as a danger signal, which occurs when the cytokine is passively released by cell necrosis, directly senses DNA damage and acts as a signal for genotoxic stress without loss of cell integrity (PubMed:26439902)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interleukin-1 increases SERPINE1 expression in human granulosa-lutein cell via P50/P52 signaling pathways., [RefSeq, PubMed]; Interleukin-1alpha inhibits transforming growth factor-beta1 and beta2-induced extracellular matrix production, remodeling and signaling in human lung fibroblasts: Master regulator in lung mucosal repair., [RefSeq, PubMed]; Processing of angiocrine alarmin IL-1alpha in endothelial cells promotes lung and liver fibrosis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 41, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53QF9;Q7RU02", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005507 copper ion binding;GO:0005149 interleukin-1 receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0070498 interleukin-1-mediated signaling pathway;GO:0033092 positive regulation of immature T cell proliferation in thymus;GO:0001660 fever generation;GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 27.1, "record_id": "P01583-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96F24-1", "uniprot_id": [ { "id": "NRBF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96F24", "type": "external" } ], "mass": 32378.0, "length": 287, "protein_name": "Nuclear receptor-binding factor 2", "gene_name": "NRBF2", "organism": "Human", "refseq_name": "nuclear receptor-binding factor 2 isoform 2", "refseq_ac": [ { "id": "NP_001269334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269334", "type": "external" } ], "gene_names_uniprotkb": "NRBF2; COPR", "gene_names_refseq": "COPR1; COPR2; COPR; NRBF-2; NRBF2", "protein_names_uniprotkb": "Nuclear receptor-binding factor 2; Comodulator of PPAR and RXR; NRBF-2", "protein_names_refseq": "comodulator of PPAR and RXR 1; comodulator of PPAR and RXR 2; nuclear receptor-binding factor 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:29982)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11230166;15610520;17287340;18619852;18691976;19369195;19413330;19651622;20068231;21993680;22354037;23186163;23301498;23481700;24715725;24785657;25086043;25892735;26375851;26992070;28059666;28228285;28467828;28832583;28834231;29242379;29393594;29485866;29557506;29632046;29786170;30315122;30429286;31154438;31844290;31848261;32157095;32160108;32265295;32357974;32387766;32938616;32983136;33592498;33912179;33968037;34171305;34932366;35051231;35561310;35580925;36010968;36215666;36284347;36333468;37938771", "class_list": "", "function": "Involved in starvation-induced autophagy probably by its association with PI3K complex I (PI3KC3-C1). However, effects has been described variably. Involved in the induction of starvation-induced autophagy (PubMed:24785657). Stabilizes PI3KC3-C1 assembly and enhances ATG14-linked lipid kinase activity of PIK3C3 (By similarity). Proposed to negatively regulate basal and starvation-induced autophagy and to inhibit PIK3C3 activity by modulating interactions in PI3KC3-C1 (PubMed:25086043). May be involved in autophagosome biogenesis (PubMed:25086043). May play a role in neural progenitor cell survival during differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; May modulate transcriptional activation by target nuclear receptors. Can act as transcriptional activator (in vitro)., [UniProtKB, PubMed]; NRBF2-mediated autophagy contributes to metabolite replenishment and radioresistance in glioblastoma., [RefSeq, PubMed]; PI3KC3 complex subunit NRBF2 is required for apoptotic cell clearance to restrict intestinal inflammation., [RefSeq, PubMed]; The activation domain, their small size (COPR1, 26.9 kDa; COPR2, 32.4 kDa), and strict dependence on AF-2 for interaction distinguish COPR1 and COPR2 from the SMRT/NCoR type of corepressor and may dampen rather than repress NR-mediated gene expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6PW36;B4DWS0;Q86UR2;Q96NP6;Q9H0S9;Q9H2I2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0031410 cytoplasmic vesicle;GO:0005776 autophagosome;GO:0035032 phosphatidylinositol 3-kinase complex, class III", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006914 autophagy;GO:0034976 response to endoplasmic reticulum stress", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q96F24-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHK0-1", "uniprot_id": [ { "id": "NUFP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHK0", "type": "external" } ], "mass": 56300.0, "length": 495, "protein_name": "FMR1-interacting protein NUFIP1", "gene_name": "NUFIP1", "organism": "Human", "refseq_name": "FMR1-interacting protein NUFIP1", "refseq_ac": [ { "id": "NP_036477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036477", "type": "external" } ], "gene_names_uniprotkb": "NUFIP1", "gene_names_refseq": "NUFIP1; NUFIP; Rsa1; bA540M5.1", "protein_names_uniprotkb": "FMR1-interacting protein NUFIP1; Nuclear FMR1-interacting protein 1; Nuclear FMRP-interacting protein 1", "protein_names_refseq": "FMR1-interacting protein NUFIP1; NUFIP1, FMR1 interacting protein 1; nuclear FMRP-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26747)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10556305;15107825;17081983;18669648;19651622;20068231;21406692;22645359;23475216;23481700;24275569;24714562;25576301;26728094;26992070;27846572;27869121;28228285;28335020;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29700228;30315122;30379171;30429286;30833945;31217245;31844290;31998317;32157095;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;34171305;34932366;35051231;36010968;36161484;36284347", "class_list": "", "function": "Binds RNA., [UniProtKB, PubMed]; NUFIP is associated with preinitiation complexes, open transcription complexes, and elongation complexes and facilitates ATP-dependent dissociation of hyperphosphorylated pol II from open transcription complexes in vitro, [RefSeq, PubMed]; NUFIP1 is a receptor for the selective autophagy of ribosomes., [RefSeq, PubMed]; This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WVM5;Q96SG1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0051117 ATPase binding", "go_cellular_component": "GO:0005726 perichromatin fibrils;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0008023 transcription elongation factor complex", "go_biological_process": "GO:0006396 RNA processing;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0000492 box C/D snoRNP assembly", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9UHK0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWD3-1", "uniprot_id": [ { "id": "RTL8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWD3", "type": "external" } ], "mass": 13188.0, "length": 113, "protein_name": "Retrotransposon Gag-like protein 8A", "gene_name": "RTL8A", "organism": "Human", "refseq_name": "retrotransposon Gag-like protein 8A isoform 1", "refseq_ac": [ { "id": "NP_001071640", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071640", "type": "external" } ], "gene_names_uniprotkb": "RTL8A; CXX1B; FAM127B; MAR8A", "gene_names_refseq": "CXX1b; FAM127B; MAR8A; RTL8A; SIRH6", "protein_names_uniprotkb": "Retrotransposon Gag-like protein 8A; Mammalian retrotransposon derived protein 8A", "protein_names_refseq": "Sushi-Ichi retrotransposon homolog 6; family with sequence similarity 127 member B; mammalian retrotransposon derived protein 8A; mammalian retrotransposon-derived 8A; protein FAM127B; retrotransposon Gag-like protein 8A isoform 1; retrotransposon Gag-like protein 8A", "tax_id": 9606, "disease": "", "pathway": " (hsa:26071)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "16093683;17697703;22424782;22544926;23481700;25418920;25576301;28467828;29557506;30429286;31092671;31154438;31217245;31844290;31848261;32161166;32357974;32387766;32938616;33298915;33968037;34171305;34509645;35051231;35247097", "class_list": "", "function": "RTL8 promotes nuclear localization of UBQLN2 to subnuclear compartments associated with protein quality control. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2A2V9;Q8TBU2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9BWD3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MZ97-1", "uniprot_id": [ { "id": "CB074_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MZ97", "type": "external" } ], "mass": 21174.0, "length": 187, "protein_name": "Uncharacterized protein C2orf74", "gene_name": "C2orf74", "organism": "Human", "refseq_name": "uncharacterized protein C2orf74 isoform 1", "refseq_ac": [ { "id": "NP_001137431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137431", "type": "external" } ], "gene_names_uniprotkb": "C2orf74", "gene_names_refseq": "C2orf74", "protein_names_uniprotkb": "Uncharacterized protein C2orf74", "protein_names_refseq": "uncharacterized protein C2orf74 isoform 1; uncharacterized protein C2orf74", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545)", "pathway": " (hsa:339804)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;33571247;36284347", "class_list": "", "function": "Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JP62", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A8MZ97-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08289-1", "uniprot_id": [ { "id": "CACB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08289", "type": "external" } ], "mass": 73581.0, "length": 660, "protein_name": "Voltage-dependent L-type calcium channel subunit beta-2", "gene_name": "CACNB2", "organism": "Human", "refseq_name": "voltage-dependent L-type calcium channel subunit beta-2 isoform 1", "refseq_ac": [ { "id": "NP_000715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000715", "type": "external" } ], "gene_names_uniprotkb": "CACNB2; CACNLB2; MYSB", "gene_names_refseq": "CAB2; CACNB2; CACNLB2; CAVB2; MYSB", "protein_names_uniprotkb": "Voltage-dependent L-type calcium channel subunit beta-2; CAB2; Calcium channel voltage-dependent subunit beta 2; Lambert-Eaton myasthenic syndrome antigen B; MYSB", "protein_names_refseq": "calcium channel voltage-dependent subunit beta 2; calcium channel, voltage-dependent, beta 2 subunit; lambert-Eaton myasthenic syndrome antigen B; myasthenic (Lambert-Eaton) syndrome antigen B; voltage-dependent L-type calcium channel subunit beta-2 isoform 1; voltage-dependent L-type calcium channel subunit beta-2", "tax_id": 9606, "disease": "Brugada syndrome 4 (Disease Ontology:DOID:0110221); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984)", "pathway": " (hsa:783); (R-HSA-112308); (R-HSA-400042); (R-HSA-419037); (R-HSA-422356); (R-HSA-5576892); (R-HSA-5576893); (R-HSA-9662360); (R-HSA-9856532)", "pathway_count": 9, "publication_count": 152, "publication_id_list": "10025409;10194514;10206966;10342826;10424882;10441130;10449730;10526167;10567342;10646604;10773014;10866047;10868950;10948191;11078440;11078469;11163272;11237011;11264248;11290418;11577798;11716850;11780755;11815450;11815460;11815462;11815463;11873862;12042350;12196472;12403834;12475777;12684222;12764427;12765789;12887316;1309946;1309948;13459201;14500339;14514350;14762176;15000524;15000528;15304325;15305887;15504896;15572341;15585596;15678092;16267048;16332676;16352729;16371464;16373322;16443778;1645720;16513675;16556766;16714477;16868246;16959974;17021801;17095603;17224476;17259518;17380317;17483156;17525370;17660294;17900700;17919183;18059411;18093912;18162464;18184654;18346985;1849000;18596924;19258039;19406745;19587354;20086079;20194790;21127204;21566136;21817159;22054663;22419821;22514276;23479567;23695678;23804213;23992284;24591645;24715725;25966690;26517901;26992070;27797339;2809592;28130356;28832583;29108130;29557506;29632711;31067468;31492838;32938616;33141586;33491517;33633747;35051231;3517644;35580925;35894107;35955449;35969184;36424916;38253038;3923453;6019353;6424440;6435940;7589840;7593639;7641683;7929812;8027028;8099279;8107964;8262246;8277227;8457197;8494331;8662784;8675920;8778232;8825650;8987985;8997178;9038151;9254841;9350615;9398268;9707174;9726229;9739505;9751501;9760042;9914469;9920805", "class_list": "", "function": "A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Association study of hypertension susceptibility genes ITGA9, MOV10, and CACNB2 with preeclampsia in Chinese Han population., [RefSeq, PubMed]; Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current (By similarity). Plays a role in shifting voltage dependencies of activation and inactivation of the channel (By similarity). May modulate G protein inhibition (By similarity). May contribute to beta-adrenergic augmentation of Ca(2+) influx in cardiomyocytes, thereby regulating increases in heart rate and contractile force (PubMed:36424916). Involved in membrane targeting of the alpha-1 subunit CACNA1C (PubMed:17525370)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Bipolar-associated miR-499-5p controls neuroplasticity by downregulating the Cav1.2 subunit CACNB2., [RefSeq, PubMed]; Epigenetic mechanism of L-type calcium channel beta-subunit downregulation in short QT human induced pluripotent stem cell-derived cardiomyocytes with CACNB2 mutation., [RefSeq, PubMed]; This gene encodes a subunit of a voltage-dependent calcium channel protein that is a member of the voltage-gated calcium channel superfamily. The gene product was originally identified as an antigen target in Lambert-Eaton myasthenic syndrome, an autoimmune disorder. Mutations in this gene are associated with Brugada syndrome. Alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Feb 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6PVM5;A6PVM7;A6PVM8;O00304;Q5QJ99;Q5QJA0;Q5VVG9;Q5VVH0;Q5VWV6;Q6TME1;Q6TME2;Q6TME3;Q8WX81;Q96NZ3;Q96NZ4;Q96NZ5;Q9BWU2;Q9HD32;Q9Y340;Q9Y341", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0051015 actin filament binding;GO:0099626 voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels;GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030315 T-tubule;GO:0098793 presynapse;GO:1990454 L-type voltage-gated calcium channel complex;GO:0005891 voltage-gated calcium channel complex", "go_biological_process": "GO:0045933 positive regulation of muscle contraction;GO:0007528 neuromuscular junction development;GO:0072659 protein localization to plasma membrane;GO:0006816 calcium ion transport;GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q08289-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1XBS5-1", "uniprot_id": [ { "id": "CBAR1_HUMAN", "url": "https://www.uniprot.org/uniprot/A1XBS5", "type": "external" } ], "mass": 33431.0, "length": 289, "protein_name": "CBY1-interacting BAR domain-containing protein 1", "gene_name": "CIBAR1", "organism": "Human", "refseq_name": "CBY1-interacting BAR domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001269963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269963", "type": "external" } ], "gene_names_uniprotkb": "CIBAR1; FAM92A1; FAM92A", "gene_names_refseq": "BARMR1; CIBAR1; FAM92A1; FAM92A; PAPA9", "protein_names_uniprotkb": "CBY1-interacting BAR domain-containing protein 1", "protein_names_refseq": "CBY1-interacting BAR domain-containing protein 1 isoform 2; CBY1-interacting BAR domain-containing protein 1; family with sequence similarity 92 member A1; protein FAM92A1", "tax_id": 9606, "disease": "polydactyly (Disease Ontology:DOID:1148); polydactyly, postaxial, type A9 (MONDO:MONDO:0032603)", "pathway": " (hsa:137392)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;17646714;19059705;25576301;27528616;27798880;28832583;28904123;29242379;30395363;30404948;30833945;31844290;31848261;32157095;32532973;32891772;32938616;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34648955;34932366;35051231;35318648;35580925;36241641;37938771", "class_list": "", "function": "BARMR1-mediated sorafenib resistance is derived through stem-like property acquisition by activating integrin-FAK signaling pathways. Publication Status: Online-Only, [RefSeq, PubMed]; BARMR1/FAM92A1, a novel gene encoding BAR domain protein with multi-functions. Review article, [RefSeq, PubMed]; FAM92 proteins interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes. Publication Status: Online-Only, [RefSeq, PubMed]; FAM92A1 has different splicing variants, and that it may take part in regulating cell proliferation and apoptosis., [RefSeq, PubMed]; FAM92A1-289 is a new tumor-related gene with oncogenic potentials to probably play roles in renal carcinogenesis., [RefSeq, PubMed]; FAM92A1-289 retains many oncogenic properties evidenced by facilitating cell migration, boosting cell proliferation and promoting colony formation in vitro and tumor growth in vivo, providing evidence for use as as a therapeutic target for cancer treatment., [RefSeq, PubMed]; Optimizing purification of the peripheral membrane protein FAM92A1 fused to a modified spidroin tag., [RefSeq, PubMed]; Plays a critical role in regulating mitochondrial ultrastructure and function by maintaining the integrity of mitochondrial morphology, particularly the organization of cristae (PubMed:30404948). Preferentially binds to negatively charged phospholipids like cardiolipin and phosphatidylinositol 4,5-bisphosphate enhancing its interaction with mitochondrial membranes (PubMed:30404948). Induces membrane curvature and tubulation, which are critical for maintaining mitochondrial ultrastructure and the organization of cristae (PubMed:30404948). Plays a crucial role in ciliogenesis (PubMed:27528616, PubMed:30395363). May play a role in limb development through its role in ciliogenesis (PubMed:30395363). Plays a key role in the correct positioning of the annulus, a septin-based ring structure in the sperm flagellum, serving both as a physical barrier and a membrane diffusion barrier that separates the midpiece (MP) from the principal piece (PP) (By similarity). This positioning is essential for proper sperm motility and function (By similarity). Interacts with CBY3 to form a complex which localizes to the curved membrane region of the flagellar pocket (By similarity). By doing so, may provide stability and rigidity to the periannular membrane to prevent membrane deformation (By similarity). This function is crucial for halting annulus migration at the proximal end of the fibrous sheath-containing PP (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1XBS4;Q32ND3;Q6AHW7;Q8N8R1;Q96L09", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding", "go_cellular_component": "GO:0097227 sperm annulus;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0097749 membrane tubulation;GO:0045880 positive regulation of smoothened signaling pathway;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0061024 membrane organization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "A1XBS5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12864-1", "uniprot_id": [ { "id": "CAD17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12864", "type": "external" } ], "mass": 92219.0, "length": 832, "protein_name": "Cadherin-17", "gene_name": "CDH17", "organism": "Human", "refseq_name": "cadherin-17 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001138135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138135", "type": "external" } ], "gene_names_uniprotkb": "CDH17", "gene_names_refseq": "CDH16; CDH17; HPT-1; HPT1", "protein_names_uniprotkb": "Cadherin-17; Intestinal peptide-associated transporter HPT-1; LI-cadherin; Liver-intestine cadherin", "protein_names_refseq": "HPT-1 cadherin; LI cadherin; cadherin 17, LI cadherin (liver-intestine); cadherin-16; cadherin-17 isoform 1 precursor; human intestinal peptide-associated transporter HPT-1; human peptide transporter 1; liver-intestine cadherin", "tax_id": 9606, "disease": "", "pathway": " (hsa:1015); (R-HSA-418990)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10225955;11237011;12050160;15302935;16467305;17967169;19354288;19664994;20398667;24190977;24715725;25372031;25576301;27846572;27862975;29242379;29557506;29789417;30833945;31154438;31540894;32350084;32357974;32488085;33298915;33392160;33958523;34171305;34185709;34364873;35051231;35140817;35154160;35494241;37074911;37081068;38452580;40914422;603017;7806582;8153632;9219219;9845526", "class_list": "", "function": "CDH17+/CDX2+ Can be Helpful in Providing Support for Small Intestinal Origin Versus Pancreatic or Biliary Origin., [RefSeq, PubMed]; Cadherin-17 (CDH17) expression in human cancer: A tissue microarray study on 18,131 tumors., [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport., [UniProtKB, PubMed]; Mechanism of dimerization and structural features of human LI-cadherin., [RefSeq, PubMed]; Molecular mechanism underlying the increased risk of colorectal cancer metastasis caused by single nucleotide polymorphisms in LI-cadherin gene. Publication Status: Online-Only, [RefSeq, PubMed]; The Relationship between Cadherin Polymorphisms and the Risk of Delayed Encephalopathy after Acute Carbon Monoxide Poisoning in the Chinese Han Population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q15336;Q2M2E0", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding;GO:0005427 proton-dependent oligopeptide secondary active transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0009986 cell surface;GO:0016323 basolateral plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0007155 cell adhesion;GO:0007229 integrin-mediated signaling pathway;GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0002314 germinal center B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q12864-1", "record_type": "protein", "filter_code": "0001000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4P3-1", "uniprot_id": [ { "id": "MESH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4P3", "type": "external" } ], "mass": 20329.0, "length": 179, "protein_name": "Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1", "gene_name": "HDDC3", "organism": "Human", "refseq_name": "guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 isoform 1", "refseq_ac": [ { "id": "NP_001273380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273380", "type": "external" } ], "gene_names_uniprotkb": "HDDC3; MESH1", "gene_names_refseq": "(ppGpp)ase; HDDC3; MESH1; MYNRL15", "protein_names_uniprotkb": "Guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1; (ppGpp)ase; 3.1.7.2; HD domain-containing protein 3; MESH1; Metazoan SpoT homolog 1; Penta-phosphate guanosine-3'-pyrophosphohydrolase", "protein_names_refseq": "HD domain-containing protein 3; guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1 isoform 1; guanosine-3',5'-bis(diphosphate) 3'-pyrophosphohydrolase MESH1; metazoan SpoT homolog 1; myeloid leukemia noncoding regulatory locus on chromosome 15; penta-phosphate guanosine-3'-pyrophosphohydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:374659)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;19608861;20818390;22544926;24715725;25576301;25645385;26154972;26992070;27600516;28832583;28904123;29493099;29557506;30429286;30779550;31844290;31848261;32157095;32357974;32387766;32462112;32897882;32938616;32983136;33141586;33298915;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;35051231;36010968;36241641", "class_list": "", "function": "MESH1 is a cytosolic NADPH phosphatase that regulates ferroptosis., [RefSeq, PubMed]; Mesh1, encoded by HDDC3 in humans, contains an active site for ppGpp hydrolysis and a conserved His-Asp-box motif for Mn(2+) binding. It catalyzes hydrolysis of ppGpp both in vitro and in vivo., [RefSeq, PubMed]; ppGpp hydrolyzing enzyme involved in starvation response., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.1.7.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.7.2", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008893 guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N4P3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVQ1-1", "uniprot_id": [ { "id": "CANT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVQ1", "type": "external" } ], "mass": 44840.0, "length": 401, "protein_name": "Soluble calcium-activated nucleotidase 1", "gene_name": "CANT1", "organism": "Human", "refseq_name": "soluble calcium-activated nucleotidase 1", "refseq_ac": [ { "id": "NP_001153244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153244", "type": "external" } ], "gene_names_uniprotkb": "CANT1; SHAPY", "gene_names_refseq": "CANT1; DBQD1; DBQD; EDM7; SCAN-1; SCAN1; SHAPY", "protein_names_uniprotkb": "Soluble calcium-activated nucleotidase 1; 3.6.1.6; Apyrase homolog; Putative MAPK-activating protein PM09; Putative NF-kappa-B-activating protein 107; SCAN-1", "protein_names_refseq": "Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase; apyrase 1 homolog (C. lectularius); apyrase homolog; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; putative MAPK-activating protein PM09; putative NF-kappa-B-activating protein 107; soluble Ca-activated nucleotidase, isozyme 1; soluble calcium-activated nucleotidase 1; soluble calcium-activated nucleotidase SCAN-1", "tax_id": 9606, "disease": "Desbuquois dysplasia (Disease Ontology:DOID:0060462); multiple epiphyseal dysplasia 7 (Disease Ontology:DOID:0070302)", "pathway": " (hsa:124583); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12167635;12234496;12600208;12761501;15006348;15248776;16835225;19853239;20425819;21037275;21412251;21654728;22539336;23481700;23650620;24190977;25502872;27846572;28467828;28514659;28742282;29242379;29314611;29317506;29331515;29557506;29741879;29789417;30573663;31844290;32157095;32350084;32907608;32938616;32983136;33298915;33912179;33936100;34087483;34171305;34357683;34433824;34561969;35051231;35068336;35154160;35251023;35580925;36215666;37858061;38369265;8692836", "class_list": "", "function": "Calcium-activated nucleotides 1 (CANT1)-driven nuclear factor-k-gene binding (NF-kB) signaling pathway facilitates the lung cancer progression., [RefSeq, PubMed]; Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP (PubMed:12234496, PubMed:15006348, PubMed:15248776, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning, expression, and characterization of this calcium-acdtivated enzyme, a human enzyme belonging to a new family of extracellular nucleotidases., [RefSeq, PubMed]; Pan-cancer analysis predicts CANT1 as a potential prognostic, immunologic biomarker., [RefSeq, PubMed]; This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]., [RefSeq]; This soluble apyrase is a calcium-binding protein, as evident from saturable Ca2+-dependent changes in intrinsic tryptophan fluorescence, UV difference absorption spectra, and Ca2+-triggered transition from enzymatically inactive form to active enzyme., [RefSeq, PubMed]; Upregulated CANT1 is correlated with poor prognosis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DJ54;Q7Z2J7;Q8NG05;Q8NHP0;Q9BSD5", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "2.4.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.1", "type": "external" }, { "id": "3.4.21.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.46", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "5.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.1.9", "type": "external" }, { "id": "5.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.-", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": 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"type": "external" }, { "id": "1.13.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.34", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.24", "type": "external" }, { "id": "3.4.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.1", "type": "external" }, { "id": "5.3.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.2.1", "type": "external" }, { "id": "5.3.3.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.12", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "2.7.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.11", "type": "external" }, { "id": "5.4.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.11", "type": "external" }, { "id": "5.4.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.4", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.4.1.186", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.186", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.1", "type": "external" }, { "id": "2.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.5.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.6", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0004382 GDP phosphatase activity;GO:0043262 ADP phosphatase activity;GO:0045134 UDP phosphatase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0030166 proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8WVQ1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54284-1", "uniprot_id": [ { "id": "CACB3_HUMAN", "url": "https://www.uniprot.org/uniprot/P54284", "type": "external" } ], "mass": 54532.0, "length": 484, "protein_name": "Voltage-dependent L-type calcium channel subunit beta-3", "gene_name": "CACNB3", "organism": "Human", "refseq_name": "voltage-dependent L-type calcium channel subunit beta-3 isoform 1", "refseq_ac": [ { "id": "NP_000716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000716", "type": "external" } ], "gene_names_uniprotkb": "CACNB3; CACNLB3", "gene_names_refseq": "CAB3; CACNB3; CACNLB3", "protein_names_uniprotkb": "Voltage-dependent L-type calcium channel subunit beta-3; CAB3; Calcium channel voltage-dependent subunit beta 3", "protein_names_refseq": "calcium channel, voltage-dependent, beta 3 subunit; voltage-dependent L-type calcium channel subunit beta-3 isoform 1; voltage-dependent L-type calcium channel subunit beta-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:784); (R-HSA-112308); (R-HSA-400042); (R-HSA-419037); (R-HSA-422356); (R-HSA-9856532)", "pathway_count": 6, "publication_count": 129, "publication_id_list": "10194514;10206966;10342826;10424882;10449730;10526167;10773014;10866047;10868950;10948191;11078440;11078469;11237011;11264248;11577798;11716850;11780755;11815450;11815460;11815462;11815463;11873862;12181424;12196472;12403834;12475777;12684222;12764427;12765789;12887316;1309948;13459201;14514350;15000528;15304325;15305887;15504896;15572341;15585596;15592455;15678092;16267048;16332676;16352729;16371464;16373322;16443778;1645720;16513675;16556766;16714477;16868246;17021801;17095603;17259518;17380317;17483156;17660294;17900700;17919183;18059411;18083107;18162464;18346985;1849000;18596924;19258039;19587354;19807924;20086079;23479567;23695678;23992284;26517901;26992070;27797339;2809592;29108130;29557506;29742403;31067468;31844290;32157095;32502341;32938616;32983136;33592498;33717175;33912179;33968037;34087483;34234349;35051231;3517644;36010968;36241641;37196677;37972591;3923453;6019353;6424440;6435940;7557998;7589840;7593639;7641683;7929812;8027028;8099279;8119293;8262246;8277227;8457197;8662784;8675920;8778232;8825650;8987985;8997178;9038151;9350615;9398268;9707174;9726229;9739505;9751501;9760042;9914469;9920805", "class_list": "", "function": "EMC chaperone-CaV structure reveals an ion channel assembly intermediate., [RefSeq, PubMed]; Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8119293). Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity). Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents. Increases CACNA1B peak calcium current and shifts the voltage dependencies of channel activation and inactivation. Increases CACNA1C peak calcium current and shifts the voltage dependencies of channel activation and inactivation., [UniProtKB, UniProtKB]; This gene encodes a regulatory beta subunit of the voltage-dependent calcium channel. Beta subunits are composed of five domains, which contribute to the regulation of surface expression and gating of calcium channels and may also play a role in the regulation of transcription factors and calcium transport. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0Z4;B7Z4Q1;B7Z973;B7ZAK8;F5GZW7;F5H2P6;F8VSG3;Q13913", "ec_number_list": [], "go_molecular_function": "GO:0005246 calcium channel regulator activity;GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse;GO:0030315 T-tubule;GO:1990454 L-type voltage-gated calcium channel complex", "go_biological_process": "GO:0045933 positive regulation of muscle contraction;GO:0072659 protein localization to plasma membrane;GO:0006816 calcium ion transport;GO:0007268 chemical synaptic transmission;GO:0070588 calcium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P54284-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60729-1", "uniprot_id": [ { "id": "CC14B_HUMAN", "url": "https://www.uniprot.org/uniprot/O60729", "type": "external" } ], "mass": 56802.0, "length": 498, "protein_name": "Dual specificity protein phosphatase CDC14B", "gene_name": "CDC14B", "organism": "Human", "refseq_name": "dual specificity protein phosphatase CDC14B isoform 3", "refseq_ac": [ { "id": "NP_001070649", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070649", "type": "external" } ], "gene_names_uniprotkb": "CDC14B", "gene_names_refseq": "CDC14B3; CDC14B; Cdc14B1; Cdc14B2; hCDC14B", "protein_names_uniprotkb": "Dual specificity protein phosphatase CDC14B; 3.1.3.16; 3.1.3.48; CDC14 cell division cycle 14 homolog B", "protein_names_refseq": "CDC14 cell division cycle 14 homolog B; dual specificity protein phosphatase CDC14B isoform 3; dual specificity protein phosphatase CDC14B", "tax_id": 9606, "disease": "renal cell carcinoma (Disease Ontology:DOID:4450)", "pathway": " (hsa:8555); (R-HSA-5687128)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10470034;10975528;11237011;11584266;11804587;11901424;12134069;12546821;12808096;12853468;12915405;15226418;15538386;15577943;16360641;16371649;16971392;16973613;17161475;17254968;17395884;17488717;17728103;17947239;18031682;18162290;18235225;18248330;18593949;18644862;18662541;18720373;19166925;19473979;19513348;19593530;20236090;20536836;20543837;20734105;20849292;21177870;21317288;21329875;21329882;21372320;22267219;22279049;22505454;22508986;22800433;23069990;23878308;24309468;24585635;25339975;26992070;29242379;31844290;32366555;33328327;33378938;36898299;37493185;37938771;7559638;7799959;8107774;9367992;9535855;9628874;9747882", "class_list": "", "function": "CDC14B is a favorable biomarker for recurrence and prognosis of GBM., [RefSeq, PubMed]; Downregulation of CDC14B in 5218 breast cancer patients: A novel prognosticator for triple-negative breast cancer., [RefSeq, PubMed]; Dual-specificity phosphatase involved in DNA damage response. Essential regulator of the G2 DNA damage checkpoint: following DNA damage, translocates to the nucleus and dephosphorylates FZR1/CDH1, a key activator of the anaphase promoting complex/cyclosome (APC/C). Dephosphorylates SIRT2 around early anaphase. Dephosphorylation of FZR1/CDH1 activates the APC/C, leading to the ubiquitination of PLK1, preventing entry into mitosis. Preferentially dephosphorylates proteins modified by proline-directed kinases., [UniProtKB, PubMed, PubMed, PubMed]; Human cells lacking CDC14A and CDC14B show differences in ciliogenesis but not in mitotic progression. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-1247-5p Functions as a Tumor Suppressor in Human Astroglioma Cells by Targeting CDC14B., [RefSeq, PubMed]; The diverging role of CDC14B: from mitotic exit in yeast to cell fate control in humans. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splice of this gene results in 3 transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6N5X8;A8MQ20;B1AL31;B1AL32;O43183;O60730;Q5JU08", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0060271 cilium assembly;GO:0006470 protein dephosphorylation;GO:1904668 positive regulation of ubiquitin protein ligase activity;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O60729-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVT6-1", "uniprot_id": [ { "id": "CF20D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVT6", "type": "external" } ], "mass": 76271.0, "length": 689, "protein_name": "Protein CFAP20DC", "gene_name": "CFAP20DC", "organism": "Human", "refseq_name": "protein CFAP20DC isoform 3", "refseq_ac": [ { "id": "NP_940865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940865", "type": "external" } ], "gene_names_uniprotkb": "CFAP20DC; C3orf67", "gene_names_refseq": "C3orf67; CFAP20DC", "protein_names_uniprotkb": "Protein CFAP20DC; Uncharacterized protein C3orf67", "protein_names_refseq": "protein CFAP20DC isoform 3; protein CFAP20DC; uncharacterized protein C3orf67", "tax_id": 9606, "disease": "", "pathway": " (hsa:200844)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;24715725;32983136;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EKV6;Q6ZV69", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZVT6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7Z7-1", "uniprot_id": [ { "id": "PGES2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7Z7", "type": "external" } ], "mass": 41943.0, "length": 377, "protein_name": "Prostaglandin E synthase 2", "gene_name": "PTGES2", "organism": "Human", "refseq_name": "prostaglandin E synthase 2 isoform 2", "refseq_ac": [ { "id": "NP_001243264", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243264", "type": "external" } ], "gene_names_uniprotkb": "PTGES2; C9orf15; PGES2", "gene_names_refseq": "C9orf15; GBF-1; PGES2; PTGES2; mPGES-2", "protein_names_uniprotkb": "Prostaglandin E synthase 2; 5.3.99.3; Membrane-associated prostaglandin E synthase-2; Microsomal prostaglandin E synthase 2; Prostaglandin-H(2) E-isomerase; mPGE synthase-2; mPGES-2", "protein_names_refseq": "GATE-binding factor 1; gamma-interferon-activated transcriptional element-binding factor 1; mPGE synthase-2; membrane-associated prostaglandin E synthase 2; microsomal prostaglandin E synthase-2; prostaglandin E synthase 2 isoform 2; prostaglandin-H(2) E-isomerase", "tax_id": 9606, "disease": "", "pathway": " (hsa:80142); (R-HSA-2162123); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "10377455;10622721;10922363;10966456;11237011;11297515;11465543;11672424;11847219;11866447;12050152;12627223;12804604;12835322;1380156;14979715;15047184;15115769;15231747;16475787;16828555;17449869;17585783;17641676;18006499;18198127;18493841;18682561;19000823;19664621;20036328;20068231;20667974;20950588;21467029;23186163;23481700;23650620;24715725;26154972;26374642;26992070;27920218;28063628;28514659;28832583;28904123;29242379;29393594;29557506;29632046;30429286;30779550;31092671;31217245;31611695;31844290;32157095;32387766;32488085;32502341;32938616;33141586;33298915;33392160;33592498;33936100;33968037;33981976;34087483;34357683;34932366;35051231;35580925;36010968;36241641;36284347;37938771;38081591;3862115;3954355;4514999;4521806;4776443;5284360;7005231;7552725;7925341;7947975;8175750;8692836;8901870;9139685;9219313;9626023", "class_list": "", "function": "110Cys is essential in the active site of membrane-associated prostaglandin E synthase-2, [RefSeq, PubMed]; High immunoreactivity of mPGES-2 in pyramidal neurons of AD brains indicates that it might have a potential role in the functional replacement of cytosolic PGES or inactive mPGES-1 in later stages of Alzheimer disease, [RefSeq, PubMed]; Inhibiting cholesterol de novo synthesis promotes hepatocellular carcinoma progression by upregulating prostaglandin E synthase 2-mediated arachidonic acid metabolism under high fatty acid conditions., [RefSeq, PubMed]; Isomerase that catalyzes the conversion of PGH2 into the more stable prostaglandin E2 (PGE2) (in vitro) (PubMed:12804604, PubMed:17585783, PubMed:18198127). The biological function and the GSH-dependent property of PTGES2 is still under debate (PubMed:17585783, PubMed:18198127). In vivo, PTGES2 could form a complex with GSH and heme and would not participate in PGE2 synthesis but would catalyze the degradation of prostaglandin E2 H2 (PGH2) to 12(S)-hydroxy-5(Z),8(E),10(E)-heptadecatrienoic acid (HHT) and malondialdehyde (MDA) (By similarity) (PubMed:17585783)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Role in regulating interferon-gamma-dependent gene expression, [RefSeq, PubMed]; The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to prostaglandin E2. This protein also has been shown to activate the transcription regulated by a gamma-interferon-activated transcription element (GATE). Multiple transcript variants have been found for this gene. [provided by RefSeq, Jun 2009]., [RefSeq]; Up-regulation of prostaglandin E2 synthesis by interleukin-1beta in human orbital fibroblasts involves coordinate induction of prostaglandin-endoperoxide H synthase-2 and glutathione-dependent prostaglandin E2 synthase expression, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53EW9;Q5SYV6;Q96GI0;Q96GL2", "ec_number_list": [ { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "4.2.1.152", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.152", "type": "external" }, { "id": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0043295 glutathione binding;GO:0003677 DNA binding;GO:0020037 heme binding;GO:0016829 lyase activity;GO:0050220 prostaglandin-E synthase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0019371 cyclooxygenase pathway;GO:0046457 prostanoid biosynthetic process;GO:0001516 prostaglandin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9H7Z7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M91-1", "uniprot_id": [ { "id": "CFA53_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M91", "type": "external" } ], "mass": 61835.0, "length": 514, "protein_name": "Cilia- and flagella-associated protein 53", "gene_name": "CFAP53", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 53", "refseq_ac": [ { "id": "NP_659457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659457", "type": "external" } ], "gene_names_uniprotkb": "CFAP53; CCDC11", "gene_names_refseq": "CCDC11; CFAP53; HTX6", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 53; Coiled-coil domain-containing protein 11", "protein_names_refseq": "cilia- and flagella-associated protein 53; coiled-coil domain containing 11", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); visceral heterotaxy 6 (Disease Ontology:DOID:0051020)", "pathway": " (hsa:220136)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "22577226;24715725;25504577;26531781;26538025;28621423;30379171;36191189;38538594;39894887", "class_list": "", "function": "CCDC11 has a conserved essential function in cilia of the vertebrate left-right organizer during embryogenesis., [RefSeq, PubMed]; CCDC11 is a cilium-associated gene with a role in left-right patterning in Xenopus and in laterality disorders in humans, [RefSeq, PubMed]; Cfap53 is a conserved regulator of organ laterality in both humans and zebrafish., [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). Regulates motility patterns of both 9+0 and 9+2 motile cilia through differential localization and recruitment of axonemal dynein components (By similarity). Required for centriolar satellite integrity and non-motile cilium assembly (PubMed:26538025). Required for motile cilium formation (PubMed:26538025). Through its role in the beating of primary cilia, involved in the establishment of organ laterality during embryogenesis (PubMed:26531781). Required for sperm flagellum biogenesis and is essential for male fertility (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, PubMed]; The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member., [RefSeq, PubMed]; This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DXT1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005576 extracellular region;GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0002177 manchette", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0060271 cilium assembly;GO:0007368 determination of left/right symmetry;GO:0003341 cilium movement;GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96M91-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCU4-1", "uniprot_id": [ { "id": "CC191_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCU4", "type": "external" } ], "mass": 110568.0, "length": 936, "protein_name": "Coiled-coil domain-containing protein 191", "gene_name": "CCDC191", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 191 isoform 1", "refseq_ac": [ { "id": "NP_065868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065868", "type": "external" } ], "gene_names_uniprotkb": "CCDC191; KIAA1407", "gene_names_refseq": "CCDC191; KIAA1407", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 191", "protein_names_refseq": "coiled-coil domain-containing protein 191 isoform 1; coiled-coil domain-containing protein 191", "tax_id": 9606, "disease": "", "pathway": " (hsa:57577)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;25576301;26992070;28834231;29632711;30524438;31844290;32387766;32938616;33592498;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DYL1;Q9P2E0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8NCU4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULB4-1", "uniprot_id": [ { "id": "CADH9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULB4", "type": "external" } ], "mass": 88689.0, "length": 789, "protein_name": "Cadherin-9", "gene_name": "CDH9", "organism": "Human", "refseq_name": "cadherin-9 preproprotein", "refseq_ac": [ { "id": "NP_057363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057363", "type": "external" } ], "gene_names_uniprotkb": "CDH9", "gene_names_refseq": "CDH9", "protein_names_uniprotkb": "Cadherin-9", "protein_names_refseq": "T1-cadherin; cadherin-9 preproprotein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:1007); (R-HSA-418990)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10225955;10861224;11237011;12050160;16467305;17668045;17967169;19354288;19413330;22846907;25372031;32161166;32350084;32387766;33912179;35051231;35100082;35251023;35580925;37074911;7806582;9219219;9845526", "class_list": "", "function": "Cadherin-9 is a reliable cell surface marker for fibroblasts in healthy and diseased kidneys. Publication Status: Online-Only, [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB]; MiR-130b-3p promotes colorectal cancer progression by targeting CHD9., [RefSeq, PubMed]; The CC genotype of rs4307059 located in the region between CDH9 and CDH10 is associated with completed suicide in a Polish cohort, [RefSeq, PubMed]; This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q3B7I5", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016342 catenin complex;GO:0016020 membrane", "go_biological_process": "GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0098609 cell-cell adhesion;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9ULB4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6D9-1", "uniprot_id": [ { "id": "MD1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6D9", "type": "external" } ], "mass": 83067.0, "length": 718, "protein_name": "Mitotic spindle assembly checkpoint protein MAD1", "gene_name": "MAD1L1", "organism": "Human", "refseq_name": "mitotic spindle assembly checkpoint protein MAD1 isoform a", "refseq_ac": [ { "id": "NP_001013858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013858", "type": "external" } ], "gene_names_uniprotkb": "MAD1L1; MAD1; TXBP181", "gene_names_refseq": "MAD1L1; MAD1; MVA7; PIG9; TP53I9; TXBP181", "protein_names_uniprotkb": "Mitotic spindle assembly checkpoint protein MAD1; HsMAD1; MAD1-like protein 1; Mitotic arrest deficient 1-like protein 1; Mitotic checkpoint MAD1 protein homolog; Tax-binding protein 181; hMAD1", "protein_names_refseq": "MAD1 mitotic arrest deficient like 1; MAD1-like protein 1; mitotic arrest deficient 1-like protein 1; mitotic checkpoint MAD1 protein homolog; mitotic spindle assembly checkpoint protein MAD1 isoform a; mitotic spindle assembly checkpoint protein MAD1; mitotic-arrest deficient 1, yeast, homolog-like 1; tax-binding protein 181; tumor protein p53 inducible protein 9", "tax_id": 9606, "disease": "lymphoma (Disease Ontology:DOID:0060058); mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition (Disease Ontology:DOID:0060982); prostate cancer (Disease Ontology:DOID:10283); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:8379); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 8, "publication_count": 188, "publication_id_list": "10049595;10198256;10366450;10411507;10597320;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11423979;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;14978040;15006353;15085137;15339662;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16565220;16622419;16622420;16682347;16890222;16943183;16964243;17030981;17112726;17113138;17129783;17196341;17198702;1737036;17525332;18001770;18097444;18452278;18669648;18691976;18716626;18922800;18923426;18981471;18991276;19010891;19273613;19350017;19413330;19608861;19651622;19664995;19691289;19696148;19815554;19965387;20030946;20068231;20101212;20133940;20591975;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22223895;22275430;22351768;22608513;22790947;22885700;23186163;23222643;23481700;23801653;24374861;24714562;24715725;24728176;24914801;25218447;25418920;25576301;25740311;25789526;25880248;26154972;26183163;26811146;26992070;27600516;27846572;27862975;27920218;28072388;28228285;28510447;28514659;28832583;28834231;28904123;29162720;29242379;29393594;29493099;29508533;29557506;29786170;29789417;30315122;30379171;30429286;30524438;30779550;30833945;31154438;31222486;31409757;31530632;31844290;31848261;31998317;32157095;32161166;32202322;32357974;32387766;32488085;32502341;32897882;32938616;32944396;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34260926;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36322655;36600305;37851364;37938771;39079086;9546394;9649308;9649503;9892021", "class_list": "", "function": "Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:10049595, PubMed:20133940, PubMed:29162720). Forms a heterotetrameric complex with the closed conformation form of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruits an open conformation of MAD2L1 (O-MAD2) and promotes the conversion of O-MAD2 to C-MAD2, which ensures mitotic checkpoint signaling (PubMed:29162720)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; DNA methylation near MAD1L1, KDM2B, and SOCS3 mediates the effect of socioeconomic status on elevated body mass index in African American adults., [RefSeq, PubMed]; MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]., [RefSeq]; Methylation in MAD1L1 is associated with the severity of suicide attempt and phenotypes of depression. Publication Status: Online-Only, [RefSeq, PubMed]; Sequesters MAD2L1 in the cytoplasm preventing its function as an activator of the mitotic spindle assembly checkpoint (SAC) resulting in SAC impairment and chromosomal instability in hepatocellular carcinomas., [UniProtKB, PubMed]; The HNF4A-CHPF pathway promotes proliferation and invasion through interactions with MAD1L1 in glioma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KR41;Q13312;Q75MI0;Q86UM4;Q9UNH0", "ec_number_list": [], "go_molecular_function": "GO:0043515 kinetochore binding", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm", "go_biological_process": "GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:1902426 deactivation of mitotic spindle assembly checkpoint;GO:0090235 regulation of metaphase plate congression;GO:0051301 cell division;GO:0007094 mitotic spindle assembly checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 19.1, "record_id": "Q9Y6D9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0B3-1", "uniprot_id": [ { "id": "IQCN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0B3", "type": "external" } ], "mass": 127693.0, "length": 1180, "protein_name": "IQ domain-containing protein N", "gene_name": "IQCN", "organism": "Human", "refseq_name": "IQ domain-containing protein N isoform a", "refseq_ac": [ { "id": "NP_001138776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138776", "type": "external" } ], "gene_names_uniprotkb": "IQCN; KIAA1683", "gene_names_refseq": "IQCN; KIAA1683; SPGF78", "protein_names_uniprotkb": "IQ domain-containing protein N", "protein_names_refseq": "IQ domain-containing protein N isoform a; IQ domain-containing protein N", "tax_id": 9606, "disease": "spermatogenic failure 78 (Disease Ontology:DOID:0070577)", "pathway": " (hsa:80726)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11230166;11237011;15302935;17525332;20800603;30379171;35051231;36321563;37140151;37184908", "class_list": "", "function": "Biallelic variants in IQCN cause sperm flagellar assembly defects and male infertility., [RefSeq, PubMed]; Essential for spermiogenesis and fertilization (PubMed:36321563). May be required for manchette assembly in elongating spermatids (By similarity)., [UniProtKB, PubMed, UniProtKB]; Loss-of-function mutations in IQCN cause male infertility in humans and mice owing to total fertilization failure., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DYH2;E9PDE0;E9PH54;Q2KHR5;Q8N4G8;Q96M14;Q9C0I0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion", "go_biological_process": "GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H0B3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ69-1", "uniprot_id": [ { "id": "LHX9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ69", "type": "external" } ], "mass": 43976.0, "length": 397, "protein_name": "LIM/homeobox protein Lhx9", "gene_name": "LHX9", "organism": "Human", "refseq_name": "LIM/homeobox protein Lhx9 isoform 2", "refseq_ac": [ { "id": "NP_001014434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014434", "type": "external" } ], "gene_names_uniprotkb": "LHX9", "gene_names_refseq": "LHX9", "protein_names_uniprotkb": "LIM/homeobox protein Lhx9; LIM homeobox protein 9", "protein_names_refseq": "LIM homeobox protein 9; LIM/homeobox protein Lhx9 isoform 2; LIM/homeobox protein Lhx9", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:56956); (R-HSA-9010553)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11237011;11397841;19706539;23217742;23746841;25242263;29557506;29565736;30783092;31848261;33968037;34536269;34548271;37980488", "class_list": "", "function": "Increased LHX9 expression in alveolar epithelial type 2 cells of patients with chronic obstructive pulmonary disease., [RefSeq, PubMed]; Involved in gonadal development., [UniProtKB]; LHX9, a p53-binding protein, inhibits the progression of glioma by suppressing glycolysis., [RefSeq, PubMed]; That Smurf1 promotes Lhx9 ubiquitylation and is involved in testosterone production in Leydig cells directly, [RefSeq, PubMed]; This gene encodes a member of the LIM homeobox gene family of developmentally expressed transcription factors. The encoded protein contains a homeodomain and two cysteine-rich zinc-binding LIM domains involved in protein-protein interactions. The protein is highly similar to a mouse protein that causes gonadal agenesis when inactivated, suggesting a role in gonadal development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor LHX9 (LIM Homeobox 9) enhances pyruvate kinase PKM2 activity to induce glycolytic metabolic reprogramming in cancer stem cells, promoting gastric cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VUE2;Q5VUE3;Q5VUE6;Q86UH2;Q9BYU6;Q9NQ70", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0030182 neuron differentiation;GO:0097380 dorsal spinal cord interneuron anterior axon guidance", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9NQ69-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0W2-1", "uniprot_id": [ { "id": "HM20B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0W2", "type": "external" } ], "mass": 35813.0, "length": 317, "protein_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related", "gene_name": "HMG20B", "organism": "Human", "refseq_name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related", "refseq_ac": [ { "id": "NP_006330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006330", "type": "external" } ], "gene_names_uniprotkb": "HMG20B; BRAF35; HMGX2; HMGXB2; SMARCE1R", "gene_names_refseq": "BRAF25; BRAF35; HMG20B; HMGX2; HMGXB2; PP7706; SMARCE1r; SOXL; pp8857", "protein_names_uniprotkb": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related; BRCA2-associated factor 35; HMG box-containing protein 20B; HMG domain-containing protein 2; HMG domain-containing protein HMGX2; SMARCE1-related protein; Sox-like transcriptional factor; Structural DNA-binding protein BRAF35", "protein_names_refseq": "BRCA2-associated factor 35; HMG box domain containing 2; HMG box-containing protein 20B; HMG domain-containing protein 2; HMG domain-containing protein HMGX2; SMARCE1-related protein; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E, member 1-related; Sox-like transcriptional factor; structural DNA-binding protein BRAF35", "tax_id": 9606, "disease": "", "pathway": " (hsa:10362); (R-HSA-3214815); (R-HSA-9679191); (R-HSA-983231)", "pathway_count": 4, "publication_count": 125, "publication_id_list": "10087012;10444591;10449787;10748112;10773667;10904264;10922406;10926844;11042108;11062261;11207365;11237011;11242053;11509652;11739383;11742974;11744692;11751636;11895428;11909966;11950885;11997092;12032298;12083779;12134158;12427746;12493763;12724404;15020713;15247287;15710388;16054028;16115318;1630448;16522641;17027967;17196961;17211407;17662961;19293402;20223979;20530532;20627800;21587264;218813;22401777;22552008;22814904;23186163;23481700;23641311;24272870;24584101;25218447;25576301;25801024;25880248;26002965;26101246;26375851;26845023;26992070;27600516;27862975;28425720;28510447;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632711;29786170;29945920;30201761;30429286;30484775;30524438;30833945;31048504;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33392160;33691108;33717175;33912179;33968037;3409321;34171305;34509645;35051231;35318648;35494241;35561310;35580925;36010968;36171271;36215666;36284347;7513682;8662638;8816476;9065479;9150135;9230307;9326583;9331217;9422515;9651585;9790534;9927674", "class_list": "", "function": "Complex containing histone deacetylase complex containing histone deacetylase mediates repression of neuronal-specific genes., [RefSeq, PubMed]; HMG20B stabilizes association of LSD1 with GFI1 on chromatin to confer transcription repression and leukemia cell differentiation block., [RefSeq, PubMed]; Molecular cloning, nucleotide and amino acid sequencing, [RefSeq, PubMed]; Required for correct progression through G2 phase of the cell cycle and entry into mitosis. Required for RCOR1/CoREST mediated repression of neuronal specific gene promoters., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NMS5;D6W616;Q6IBP8;Q8NBD5;Q9HD21;Q9Y491;Q9Y4A2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006325 chromatin organization;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q9P0W2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22223-1", "uniprot_id": [ { "id": "CADH3_HUMAN", "url": "https://www.uniprot.org/uniprot/P22223", "type": "external" } ], "mass": 91418.0, "length": 829, "protein_name": "Cadherin-3", "gene_name": "CDH3", "organism": "Human", "refseq_name": "cadherin-3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001304124", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304124", "type": "external" } ], "gene_names_uniprotkb": "CDH3; CDHP", "gene_names_refseq": "CDH3; CDHP; HJMD; PCAD", "protein_names_uniprotkb": "Cadherin-3; P-cadherin; Placental cadherin", "protein_names_refseq": "cadherin 3, type 1, P-cadherin (placental); cadherin-3 isoform 2 precursor; calcium-dependent adhesion protein, placental", "tax_id": 9606, "disease": "congenital hypotrichosis with juvenile macular dystrophy (Disease Ontology:DOID:0110711); ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (Disease Ontology:DOID:0111649)", "pathway": " (hsa:1001); (R-HSA-418990)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10225955;11237011;11544476;12050160;12445216;15805154;16007225;16467305;17052462;17967169;19354288;21993680;23719902;24606884;25372031;25576301;26826277;2702654;2793940;29242379;29789417;30192525;30779550;31844290;32157095;33592498;34087483;35051231;35305877;35563773;35853629;35874702;37490916;38003666;7806582;9219219;9815605;9845526", "class_list": "", "function": "Alteration of Cadherin 3 Expression and DNA Methylation in Association with Aggressive Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CDH3 is associated with poor prognosis by promoting the malignancy and chemoresistance in oral squamous cell carcinoma., [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB]; Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; P-Cadherin Regulates Intestinal Epithelial Cell Migration and Mucosal Repair, but Is Dispensable for Colitis Associated Colon Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R6F4;Q05DI6", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0030054 cell junction;GO:0016342 catenin complex", "go_biological_process": "GO:0048820 hair follicle maturation;GO:0007155 cell adhesion;GO:0016477 cell migration;GO:0031424 keratinization;GO:0000902 cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P22223-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR16-1", "uniprot_id": [ { "id": "C163B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR16", "type": "external" } ], "mass": 159239.0, "length": 1453, "protein_name": "Scavenger receptor cysteine-rich type 1 protein M160", "gene_name": "CD163L1", "organism": "Human", "refseq_name": "scavenger receptor cysteine-rich type 1 protein M160 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001284579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284579", "type": "external" } ], "gene_names_uniprotkb": "CD163L1; CD163B; M160; PRO23202", "gene_names_refseq": "CD163B; CD163L1; M160; SCARI2; WC1", "protein_names_uniprotkb": "Scavenger receptor cysteine-rich type 1 protein M160; CD163 antigen-like 1", "protein_names_refseq": "CD163 antigen B; CD163 antigen-like 1; scavenger receptor cysteine-rich type 1 protein M160 isoform 1 precursor; scavenger receptor cysteine-rich type 1 protein M160", "tax_id": 9606, "disease": "", "pathway": " (hsa:283316)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11086079;11237011;12975309;15340161;19159218;20032174;20237496;23481700;25645385;26154972;27862975;29557506;31844290;33141586;34256195;35051231;35561310;37938771", "class_list": "", "function": "CD163L1(+)CXCL10(+) Macrophages are Enriched Within Colonic Lamina Propria of Diverticulitis Patients., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the scavenger receptor cysteine-rich (SRCR) superfamily. Members of this family are secreted or membrane-anchored proteins mainly found in cells associated with the immune system. The SRCR family is defined by a 100-110 amino acid SRCR domain, which may mediate protein-protein interaction and ligand binding. The encoded protein contains twelve SRCR domains, a transmembrane region and a cytoplasmic domain. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 16, "predicted_n_glycosites": 16, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 106, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "B4E0G7;C9JHR7;E7EVK4;Q2M3B7;Q6UWC2", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9NR16-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS85-1", "uniprot_id": [ { "id": "CAH10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS85", "type": "external" } ], "mass": 37563.0, "length": 328, "protein_name": "Carbonic anhydrase-related protein 10", "gene_name": "CA10", "organism": "Human", "refseq_name": "carbonic anhydrase-related protein 10 precursor", "refseq_ac": [ { "id": "NP_001076002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076002", "type": "external" } ], "gene_names_uniprotkb": "CA10; PRO1076; hucep-15", "gene_names_refseq": "CA-RPX; CA10; CARPX; HUCEP-15", "protein_names_uniprotkb": "Carbonic anhydrase-related protein 10; CA-RP X; CARP X; Carbonic anhydrase-related protein X; Cerebral protein 15", "protein_names_refseq": "CA-RP X; CARP X; carbonic anhydrase X; carbonic anhydrase-related protein 10 precursor; carbonic anhydrase-related protein 10; carbonic anhydrase-related protein X; cerebral protein-15; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:56934)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11230166;11237011;11311946;12975309;17081983;18491316;29557506;30636076;32618367;32736539;32938616;34087483;34980544;9921901", "class_list": "", "function": "Carbonic anhydrase 10 functions as a tumor suppressor in renal cell carcinoma and its methylation is a risk factor for survival outcome., [RefSeq, PubMed]; Does not have a catalytic activity., [UniProtKB, UniProtKB, UniProtKB]; Glycolysis, via NADH-dependent dimerisation of CtBPs, regulates hypoxia-induced expression of CAIX and stem-like breast cancer cell survival., [RefSeq, PubMed]; Identifies a string of seven CCG repeats in the 5' UTR of a carbonic anhydrase X cDNA from human brain. Erratum:[Hum Genet 1999 Jan;104(1):113], [RefSeq, PubMed]; Methylation of WT1, CA10 in peripheral blood leukocyte is associated with breast cancer risk: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that CA11 and CA10 negatively regulate neuronal activity-dependent glioma growth and inhibit glioma aggression. Thus, CA11/CA10 may represent a potential therapeutic target for the treatment of gliomas., [RefSeq, PubMed]; This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7J0;B4DGL6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016836 hydro-lyase activity;GO:0004089 carbonate dehydratase activity", "go_cellular_component": "", "go_biological_process": "GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9NS85-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z589-1", "uniprot_id": [ { "id": "EMSY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z589", "type": "external" } ], "mass": 141468.0, "length": 1322, "protein_name": "BRCA2-interacting transcriptional repressor EMSY", "gene_name": "EMSY", "organism": "Human", "refseq_name": "BRCA2-interacting transcriptional repressor EMSY isoform 1", "refseq_ac": [ { "id": "NP_001287871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287871", "type": "external" } ], "gene_names_uniprotkb": "EMSY; C11orf30; GL002", "gene_names_refseq": "C11orf30; EMSY; GL002", "protein_names_uniprotkb": "BRCA2-interacting transcriptional repressor EMSY", "protein_names_refseq": "BRCA2-interacting transcriptional repressor EMSY isoform 1; BRCA2-interacting transcriptional repressor EMSY; EMSY, BRCA2 interacting transcriptional repressor; protein EMSY", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841); allergic rhinitis (Disease Ontology:DOID:4481)", "pathway": " (hsa:56946)", "pathway_count": 1, "publication_count": 117, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14651845;15302935;15947784;15978617;16029503;16615912;16964243;17924679;18669648;18767875;19131338;19413330;19664995;19690332;19691289;20068230;20068231;20112406;20305658;21158410;21406692;21740066;23186163;23301498;23481700;24715725;25576301;25880248;26154972;26992070;27114449;27600516;27655845;27846572;28099152;28218747;28228285;28467828;28514659;28657654;28832583;28834231;29237092;29242379;29249144;29351928;29393594;29437277;29557506;29632046;29632711;29741879;29786170;30059200;30315122;30379171;30410026;30429286;30524438;30620550;30779550;31154438;31222486;31492838;31637018;31812328;31844290;31848261;32157095;32161166;32357974;32502341;32522876;32574038;32938616;32938750;32983136;33123756;33141586;33213402;33214551;33298915;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34725712;34846842;34932366;34963055;35051231;35132862;35254053;35289036;35318648;35513511;35580925;35705054;36010968;36240223;36241641;37340703;37541260;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;41350704", "class_list": "", "function": "Common genetic variation in EMSY does not appear to have a role in development of breast or ovarian cancer Publication Status: Online-Only, [RefSeq, PubMed]; EMSY inhibits homologous recombination repair and the interferon response, promoting lung cancer immune evasion., [RefSeq, PubMed]; Genetic variants of the C11orf30-LRRC32 region are associated with childhood asthma in the Chinese population., [RefSeq, PubMed]; Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin (PubMed:14651845). Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2 (PubMed:14651845). Mediates ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:19131338)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Report the crystal structure of the ENT domain of EMSY; dimerisation of EMSY mediated by the ENT domain could provide flexibility for it to bind two or more different substrates simultaneously, [RefSeq, PubMed]; The crystal structure of residues 1-108 of EMSY at 2.0 A resolution is reported; the structure contains both the ENT domain and the HP1beta/BS69-binding motif., [RefSeq, PubMed]; The remarkable clinical overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 7, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 81, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 81, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 81, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 186, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 86, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKT8;B7ZKU0;B7ZKU2;Q17RM7;Q4G109;Q8NBU6;Q8TE50;Q9H8I9;Q9NRH0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "Q7Z589-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZT3-1", "uniprot_id": [ { "id": "SLIRP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZT3", "type": "external" } ], "mass": 12349.0, "length": 109, "protein_name": "SRA stem-loop-interacting RNA-binding protein, mitochondrial", "gene_name": "SLIRP", "organism": "Human", "refseq_name": "SRA stem-loop-interacting RNA-binding protein, mitochondrial isoform 3 precursor", "refseq_ac": [ { "id": "NP_001254793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254793", "type": "external" } ], "gene_names_uniprotkb": "SLIRP; C14orf156; DC23; DC50; PD04872", "gene_names_refseq": "C14orf156; DC50; PD04872; SLIRP", "protein_names_uniprotkb": "SRA stem-loop-interacting RNA-binding protein, mitochondrial", "protein_names_refseq": "SRA stem-loop-interacting RNA-binding protein, mitochondrial isoform 3 precursor; SRA stem-loop-interacting RNA-binding protein, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:81892); (R-HSA-9836573); (R-HSA-9937008)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "11237011;15096047;15769737;16762838;17081983;18083837;18669648;19415658;19509288;19680543;19864255;20068231;20166139;20200222;21209280;21292163;21406692;22210891;22661577;23186163;23221631;23473033;23741365;24275569;24366607;25008111;25418920;25469497;25576301;25880248;26154972;26375851;26758079;26811146;26929215;26992070;27600516;27846572;27862975;27920218;27974379;28063628;28228285;28510447;28832583;28834231;29107537;29146908;29242379;29288125;29366917;29393594;29493099;29557506;29632046;29967381;30046113;30315122;30779550;31154438;31217245;31477916;31530632;31844290;32161166;32265295;32357974;32365187;32387766;32488085;32938616;32983136;33141586;33150185;33214551;33298915;33392160;33592498;33691108;33912179;33968037;33981976;34171305;34229054;34426662;34509645;34932366;35051231;35154160;35318648;35481630;35580925;36241641;37938771;38203264;38665916", "class_list": "", "function": "Effects of SLIRP on Sperm Motility and Oxidative Stress. Publication Status: Online-Only, [RefSeq, PubMed]; LRPPRC exists in a high-molecular-weight complex, and it coimmunoprecipitates with SLIRP, a stem-loop RNA-binding protein., [RefSeq, PubMed]; Mitochondrial Protein SLIRP Affects Biosynthesis of Cytochrome c Oxidase Subunits in HEK293T Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Our data demonstrate that SLIRP modulates NR transactivation, suggest it may regulate mitochondrial function, and provide mechanistic insight into interactions between SRA, SLIRP, SRC-1, and NCoR., [RefSeq, PubMed]; Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency., [RefSeq, PubMed]; RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SLIRP plays an essential role in maintaining mitochondrial-localized mRNA transcripts that encode OxPhos protein subunits. Erratum:[PLoS Genet. 2010;6(3). doi: 10.1371/annotation/36fe7624-0904-46d4-a013-4be6195245c4], [RefSeq, PubMed]; Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3KMY7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0048471 perinuclear region of cytoplasm;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0097222 mitochondrial mRNA polyadenylation;GO:1905638 negative regulation of mitochondrial mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9GZT3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULG6-1", "uniprot_id": [ { "id": "CCPG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULG6", "type": "external" } ], "mass": 87340.0, "length": 757, "protein_name": "Cell cycle progression protein 1", "gene_name": "CCPG1", "organism": "Human", "refseq_name": "cell cycle progression protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001191379", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191379", "type": "external" } ], "gene_names_uniprotkb": "CCPG1; CCP8; CPR8; KIAA1254", "gene_names_refseq": "CCPG1; CPR8", "protein_names_uniprotkb": "Cell cycle progression protein 1; Cell cycle progression restoration protein 8", "protein_names_refseq": "cell cycle progression protein 1 isoform 2; cell cycle progression restoration protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:9236)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18991276;19651622;23186163;23481700;24029068;24190977;24275569;24366607;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26992070;27600516;27846572;27862975;27920218;28649982;28832583;28834231;28904123;29242379;29290589;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30524438;30779550;31530632;31611695;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33691108;33692357;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37702448;9383053", "class_list": "", "function": "Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42 (By similarity). May be involved in cell cycle regulation., [UniProtKB, PubMed]; Clinical and prognostic significance of CCPG1 in hepatocellular carcinoma., [RefSeq, PubMed]; Identification of cell-cycle progression gene 1 (CCPG1), an ER-resident protein, as a non-canonical cargo receptor that directly binds to core autophagy proteins via an LIR motif to mammalian ATG8 proteins and, independently and via a discrete motif, to FIP200., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0PJH3;A8K9T0;O14712;Q05DG4;Q5U5S7;Q8IYV8;Q9BY53;Q9HA17", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0045787 positive regulation of cell cycle;GO:0061709 reticulophagy", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9ULG6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5D8V7-1", "uniprot_id": [ { "id": "ODAD3_HUMAN", "url": "https://www.uniprot.org/uniprot/A5D8V7", "type": "external" } ], "mass": 69140.0, "length": 595, "protein_name": "Outer dynein arm-docking complex subunit 3", "gene_name": "ODAD3", "organism": "Human", "refseq_name": "outer dynein arm-docking complex subunit 3 isoform 2", "refseq_ac": [ { "id": "NP_001289382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289382", "type": "external" } ], "gene_names_uniprotkb": "ODAD3; CCDC151", "gene_names_refseq": "CCDC151; CILD30; ODA10; ODAD3", "protein_names_uniprotkb": "Outer dynein arm-docking complex subunit 3; Coiled-coil domain-containing protein 151", "protein_names_refseq": "coiled-coil domain containing 151; coiled-coil domain-containing protein 151; outer dynein arm-docking complex subunit 3 isoform 2", "tax_id": 9606, "disease": "Kartagener syndrome (Disease Ontology:DOID:0050144); idiopathic scoliosis (Disease Ontology:DOID:0060250); primary ciliary dyskinesia 30 (Disease Ontology:DOID:0110624); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:115948)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;25192045;25224326;29242379;30379171;30504913;32490514;34932366;35051231;37340703", "class_list": "", "function": "CCDC151 mutation is associated with primary ciliary dyskinesia and situs inversus. Erratum:[J Hum Genet. 2019 Aug;64(8):829. doi: 10.1038/s10038-019-0624-2. PMID: 31178588], [RefSeq, PubMed]; CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation., [RefSeq, PubMed]; Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule (PubMed:25192045). Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (PubMed:25192045)., [UniProtKB, PubMed]; Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome., [RefSeq, PubMed]; This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DXT0;Q96CG5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0035253 ciliary rootlet;GO:0005814 centriole;GO:0005930 axoneme;GO:0036064 ciliary basal body", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0007368 determination of left/right symmetry;GO:1902017 regulation of cilium assembly;GO:0003341 cilium movement;GO:0036158 outer dynein arm assembly", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "A5D8V7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N187-1", "uniprot_id": [ { "id": "CARTF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N187", "type": "external" } ], "mass": 80698.0, "length": 725, "protein_name": "Calcium-responsive transcription factor", "gene_name": "CARF", "organism": "Human", "refseq_name": "calcium-responsive transcription factor isoform 1", "refseq_ac": [ { "id": "NP_001098056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098056", "type": "external" } ], "gene_names_uniprotkb": "CARF; ALS2CR8", "gene_names_refseq": "ALS2CR8; CARF; NYD-SP24", "protein_names_uniprotkb": "Calcium-responsive transcription factor; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein; CaRF; Calcium-response factor; Testis development protein NYD-SP24", "protein_names_refseq": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein; calcium-response factor; calcium-responsive transcription factor isoform 1; testis development protein NYD-SP24", "tax_id": 9606, "disease": "", "pathway": " (hsa:79800)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;11586298;11832226;22174809;29321561;29718136;31217245;31844290;32357974;32387766;32617772;32938616;33936100;33968037;35051231", "class_list": "", "function": "Acts as a transcriptional activator that mediates the calcium- and neuron-selective induction of BDNF exon III transcription. Binds to the consensus calcium-response element CaRE1 5'-CTATTTCGAG-3' sequence., [UniProtKB, PubMed, PubMed]; Cloned as a calcium- and neural-selective transcriptional activator of the gene for Brain-Derived Neurotrophic Factor (BDNF)., [RefSeq, PubMed]; Data demonstrate that CARF is a new target of miR-451 that mediates its tumor suppressor function in normal and stressed biological states. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of MicroRNA-302c on Stemness of Colon Cancer Stem Cells via the CARF/Wnt/beta-Catenin Axis., [RefSeq, PubMed]; Wi-A caused upregulation of CARF (collaborator of ARF) demonstrating an activation of DNA damage oxidative stress response in both cancer and normal cells. In line with this, upregulation of p21WAF1, p16INK4A, and hypophosphorylated pRB and induction of senescence were observed demonstrating that Wi-A-induced senescence is mediated by multiple pathways in which CARF-mediated DNA damage and oxidative stress play a major ro, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E1W7;G3V1K7;Q8ND29;Q8WXC0;Q96J78;Q96Q38;Q96Q39;Q9H712", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0001652 granular component", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0071277 cellular response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N187-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14094-1", "uniprot_id": [ { "id": "CCNI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14094", "type": "external" } ], "mass": 42557.0, "length": 377, "protein_name": "Cyclin-I", "gene_name": "CCNI", "organism": "Human", "refseq_name": "cyclin-I isoform a", "refseq_ac": [ { "id": "NP_001335061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335061", "type": "external" } ], "gene_names_uniprotkb": "CCNI", "gene_names_refseq": "CCNI1; CCNI; CYC1; CYI", "protein_names_uniprotkb": "Cyclin-I", "protein_names_refseq": "cyclin ITI; cyclin-I isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:10983)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "11237011;17074750;17507299;18767875;22424782;22898188;23481700;23907122;24029068;24714562;24715725;25418920;25576301;25645385;26024233;26154972;26375851;26698249;26728094;26811146;26929215;26992070;27397612;27543614;27600516;27846572;27862975;28860486;28904123;29437277;29493099;29557506;30078552;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37081792;37938771;7493655;9705831", "class_list": "", "function": "A cyclin I-Cdk5 complex forms a critical antiapoptotic factor in the process of generating cisplatin resistance in cervical cancer., [RefSeq, PubMed]; CDK6 is activated by the atypical cyclin I to promote E2F-mediated gene expression and cancer cell proliferation., [RefSeq, PubMed]; Knockdown of Cyclin I induced cell cycle arrest at S/G2/M phases., [RefSeq, PubMed]; The increased levels of cyclin I and GDI2 found to be associated with pancreatic carcinoma were further confirmed by Western blot analyses in an independent series of serum samples and/or pancreatic juice samples, [RefSeq, PubMed]; The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6M0;B7Z6X4", "ec_number_list": [], "go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0031965 nuclear membrane;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q14094-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2K3-1", "uniprot_id": [ { "id": "RCOR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2K3", "type": "external" } ], "mass": 55581.0, "length": 495, "protein_name": "REST corepressor 3", "gene_name": "RCOR3", "organism": "Human", "refseq_name": "REST corepressor 3 isoform a", "refseq_ac": [ { "id": "NP_001129695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129695", "type": "external" } ], "gene_names_uniprotkb": "RCOR3; KIAA1343", "gene_names_refseq": "RCOR3", "protein_names_uniprotkb": "REST corepressor 3", "protein_names_refseq": "REST corepressor 3 isoform a", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:55758)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;17081983;18452278;19773279;20068231;21406692;21765449;23186163;24129315;25418920;25505266;26375851;26811146;26929215;26992070;28832583;28834231;29242379;29493099;29557506;29789417;30429286;30833945;31154438;31844290;31848261;32157095;32357974;32387766;32897882;32938616;32983136;33298915;33392160;33592498;33968037;34087483;34171305;34509645;35051231;35561310;35580925;36010968", "class_list": "", "function": "May act as a component of a corepressor complex that represses transcription., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The serum RCOR3 levels in SHB, cirrhosis and liver cancer patients were significantly lower than those in the patients with moderate chronic hepatitis B and with mild chronic hepatitis B., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KYA2;B4DYY7;Q5VT47;Q7L9I5;Q8N5U3;Q9NV83", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005667 transcription regulator complex;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9P2K3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZS8-1", "uniprot_id": [ { "id": "CA2D3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZS8", "type": "external" } ], "mass": 123011.0, "length": 1091, "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-3", "gene_name": "CACNA2D3", "organism": "Human", "refseq_name": "voltage-dependent calcium channel subunit alpha-2/delta-3 precursor", "refseq_ac": [ { "id": "NP_060868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060868", "type": "external" } ], "gene_names_uniprotkb": "CACNA2D3", "gene_names_refseq": "CACNA2D3; HSA272268", "protein_names_uniprotkb": "Voltage-dependent calcium channel subunit alpha-2/delta-3; Voltage-gated calcium channel subunit alpha-2/delta-3", "protein_names_refseq": "alpha2delta-3; calcium channel alpha2-delta3 subunit; calcium channel, voltage-dependent, alpha 2/delta 3 subunit; calcium channel, voltage-dependent, alpha 2/delta subunit 3; voltage-dependent calcium channel subunit alpha-2/delta-3 precursor; voltage-dependent calcium channel subunit alpha-2/delta-3; voltage-gated calcium channel subunit alpha-2/delta-3", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); heart conduction disease (Disease Ontology:DOID:10273)", "pathway": " (hsa:55799); (R-HSA-112308)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "11237011;11245980;11687876;12181424;17937436;18519826;28904123;29557506;31378653;31829940;32983136;33392160;34171305;35051231;36624463;38151212;8825650", "class_list": "", "function": "A two-stage genome-wide association study identifies novel germline genetic variations in CACNA2D3 associated with radiotherapy response in nasopharyngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; CNS sensitisation was associated with a common genetic variant near the calcium channel gene CACNA2D3 at genome-wide significance., [RefSeq, PubMed]; Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Did not detect submicroscopic deletion or duplication nor sequence alteration in either CACNA2D3 or WNT5A in ZLS-affected individuals, [RefSeq, PubMed]; Remote ischemic preconditioning reduces mitochondrial apoptosis mediated by calpain 1 activation in myocardial ischemia-reperfusion injury through calcium channel subunit Cacna2d3., [RefSeq, PubMed]; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q-type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G) (By similarity)., [UniProtKB]; The authors show that ventricular alpha2delta3 expression is low in healthy mice and humans, but significantly elevated in ventricular muscles from DM1 patients with conduction defects. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; This publication primarily discusses the alpha2/delta 4 subunit, but also contains cDNA data relating to the gene described in this record., [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RPL6;Q9NY16;Q9NY18", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005245 voltage-gated calcium channel activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005891 voltage-gated calcium channel complex;GO:0016020 membrane", "go_biological_process": "GO:1990314 cellular response to insulin-like growth factor stimulus;GO:0099174 regulation of presynapse organization;GO:0006816 calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8IZS8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWF9-1", "uniprot_id": [ { "id": "CCD83_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWF9", "type": "external" } ], "mass": 48851.0, "length": 413, "protein_name": "Coiled-coil domain-containing protein 83", "gene_name": "CCDC83", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 83 isoform 2", "refseq_ac": [ { "id": "NP_001273088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273088", "type": "external" } ], "gene_names_uniprotkb": "CCDC83; HSD9", "gene_names_refseq": "CCDC83; CT148; HSD9; KP-CoT-23", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 83", "protein_names_refseq": "coiled-coil domain-containing protein 83 isoform 2; coiled-coil domain-containing protein 83", "tax_id": 9606, "disease": "", "pathway": " (hsa:220047)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;22923163;30379171;34087483", "class_list": "", "function": "These data suggest that KP-CoT-23 is a novel CT antigen that may be useful for the diagnosis and immunotherapy of cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RA49;Q6X7T2;Q6ZVT5;Q8N9Y1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8IWF9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCR3-1", "uniprot_id": [ { "id": "MFI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCR3", "type": "external" } ], "mass": 36720.0, "length": 313, "protein_name": "Protein MFI", "gene_name": "C11orf65; MFI", "organism": "Human", "refseq_name": "protein MFI isoform 2", "refseq_ac": [ { "id": "NP_001317297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317297", "type": "external" } ], "gene_names_uniprotkb": "C11orf65; MFI; C11orf65", "gene_names_refseq": "C11orf65; MFI", "protein_names_uniprotkb": "Protein MFI; Mitochondrial fission factor interactor", "protein_names_refseq": "mitochondrial fission factor interactor; protein MFI isoform 2; protein MFI; uncharacterized protein C11orf65", "tax_id": 9606, "disease": "", "pathway": " (hsa:160140)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;19692168;25418920;26992070;29557506;30059978;31217245", "class_list": "", "function": "Acts as an inhibitor of mitochondrial fission. Interacts with MFF and prevents DNM1L recruitment to mitochondria, promoting a more fused mitochondrial network., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DZU4;Q6PCA8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:1903215 negative regulation of protein targeting to mitochondrion;GO:0090258 negative regulation of mitochondrial fission", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NCR3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43739-1", "uniprot_id": [ { "id": "CYH3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43739", "type": "external" } ], "mass": 46349.0, "length": 400, "protein_name": "Cytohesin-3", "gene_name": "CYTH3", "organism": "Human", "refseq_name": "cytohesin-3 isoform a", "refseq_ac": [ { "id": "NP_004218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004218", "type": "external" } ], "gene_names_uniprotkb": "CYTH3; ARNO3; GRP1; PSCD3", "gene_names_refseq": "ARNO3; CYTH3; GRP1; PSCD3; cytohesin-3", "protein_names_uniprotkb": "Cytohesin-3; ARF nucleotide-binding site opener 3; General receptor of phosphoinositides 1; Grp1; PH, SEC7 and coiled-coil domain-containing protein 3; Protein ARNO3", "protein_names_refseq": "ARF nucleotide-binding site opener 3; PH, SEC7 and coiled-coil domain-containing protein 3; cytohesin-3 isoform a; general receptor of phosphoinositides 1; pleckstrin homology, Sec7 and coiled-coil domains 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9265); (R-HSA-6811438)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10.1101/2023.09.13.557529;10189370;10652308;10652516;11718716;11748249;12011112;12383348;12429822;15504911;15718469;15728195;15758030;17274799;17398095;18086915;18256213;18451304;19164740;19536132;19715559;20163571;20874812;21807881;22013193;22188167;23091056;23239882;23378023;23462996;23481700;23839779;23936529;23940353;24119662;24966920;25576301;25708460;26992070;28218747;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30410026;30429286;31154438;31844290;32157095;32357974;32387766;32488085;32502341;33298915;33592498;33912179;33968037;33981976;34171305;34357683;34932366;35051231;35580925;36284347;37938771;8636227;8945478;9244307;9476900;9510256;9653114;9707577;9742223;9915833", "class_list": "", "function": "Cytohesin-3 was upregulated in hepatocellular carcinoma tissues, correlating with overall survival/relapse-free survival and tumor size/vascular invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes guanine-nucleotide exchange on ARF1 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays a role in the epithelial polarization (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; This gene encodes a member of the PSCD (pleckstrin homology, Sec7 and coiled-coil domains) family. PSCD family members have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This encoded protein is involved in the control of Golgi structure and function, and it may have a physiological role in regulating ADP-ribosylation factor protein 6 (ARF) functions, in addition to acting on ARF1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D2N8", "ec_number_list": [], "go_molecular_function": "GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0090162 establishment of epithelial cell polarity;GO:0048193 Golgi vesicle transport;GO:0032012 regulation of ARF protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "O43739-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H596-1", "uniprot_id": [ { "id": "DUS21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H596", "type": "external" } ], "mass": 21529.0, "length": 190, "protein_name": "Dual specificity protein phosphatase 21", "gene_name": "DUSP21", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 21", "refseq_ac": [ { "id": "NP_071359", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071359", "type": "external" } ], "gene_names_uniprotkb": "DUSP21; LMWDSP21", "gene_names_refseq": "DUSP21; LMWDSP21", "protein_names_uniprotkb": "Dual specificity protein phosphatase 21; 3.1.3.16; 3.1.3.48; LMW-DSP21; Low molecular weight dual specificity phosphatase 21", "protein_names_refseq": "BJ-HCC-26 tumor antigen; LMW-DSP21; dual specificity protein phosphatase 21; low molecular weight dual specificity phosphatase 21", "tax_id": 9606, "disease": "chromosome 17q12 deletion syndrome (Disease Ontology:DOID:0060404)", "pathway": " (hsa:63904)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12408986;16959974;23929653;30315122", "class_list": "", "function": "DUSP21 plays an important role in sustaining hepatocellular carcinoma (HCC) cell proliferation and may thus act as a potential therapeutic target in HCC treatment., [RefSeq, PubMed]; Protein phosphatase component of the sperm flagellar doublet microtubules (By similarity). May act as a regulator of sperm motility by mediating dephosphorylation of sperm doublet microtubule proteins (By similarity). Can dephosphorylate single and diphosphorylated synthetic MAPK peptides, with preference for the phosphotyrosine and diphosphorylated forms over phosphothreonine (By similarity)., [UniProtKB, UniProtKB]; This gene encodes a member of the dual specificity phosphatase family, specifically the low molecular weight dual specificity phosphatase family. The encoded protein localizes to both the cytoplasm and the nucleus and functions to remove phosphate groups from phosphotyrosine and phosphothreonine residues.[provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0VDA6;Q6IAJ6;Q6YDQ8", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0017017 MAP kinase tyrosine/serine/threonine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9H596-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3D6-1", "uniprot_id": [ { "id": "FIS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3D6", "type": "external" } ], "mass": 16938.0, "length": 152, "protein_name": "Mitochondrial fission 1 protein", "gene_name": "FIS1", "organism": "Human", "refseq_name": "mitochondrial fission 1 protein", "refseq_ac": [ { "id": "NP_057152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057152", "type": "external" } ], "gene_names_uniprotkb": "FIS1; CGI-135; TTC11", "gene_names_refseq": "CGI-135; FIS1; TTC11", "protein_names_uniprotkb": "Mitochondrial fission 1 protein; FIS1 homolog; TPR repeat protein 11; Tetratricopeptide repeat protein 11; hFis1", "protein_names_refseq": "FIS1 homolog; H_NH0132A01.6; TPR repeat protein 11; fission 1 (mitochondrial outer membrane) homolog; hFis1; mitochondrial fission 1 protein; mitochondrial fission molecule; tetratricopeptide repeat domain 11; tetratricopeptide repeat protein 11", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); dental fluorosis (Disease Ontology:DOID:13711); acute kidney failure (Disease Ontology:DOID:3021); rhinitis (Disease Ontology:DOID:4483); myocardial infarction (Disease Ontology:DOID:5844); chronic kidney disease (Disease Ontology:DOID:784); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:51024); (R-HSA-9603798)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10430017;10704444;11237011;11390669;11402059;11453642;11590176;11883941;12751901;12783892;12861026;12924628;14623186;14705031;14709540;14996942;15007061;15713480;15781447;16107562;16118244;16280322;16791427;16874301;16895967;16980692;17069900;18174172;18782765;20531392;20554521;20826455;21102411;21701560;22624858;23283981;23328677;23460677;23481700;23530241;23628762;23921378;24196833;24275569;24714562;24715725;25062251;25418920;25517356;25892735;26728094;26777132;26992070;27543614;27600516;27726376;27862975;28218747;28281558;28325759;28467828;28832583;28834231;28855257;29242379;29314611;29393594;29437277;29480948;29493099;29508533;29557506;29769354;29786170;30410026;30429286;31611695;31844290;32157095;32265295;32350084;32387766;32502341;32938616;32983136;33392160;33592498;33717175;33936100;34171305;34357683;35051231;35251023;35290083;35561310;35580925;36010968;36272645;36284347;37479690;37589160;37777154;37938771;38409448;9418908", "class_list": "", "function": "A conserved, noncanonical insert in FIS1 mediates TBC1D15 and DRP1 recruitment for mitochondrial fission., [RefSeq, PubMed]; Cytosolic domain of fis1 adopts a tetratricopeptide repeat domain fold., [RefSeq, PubMed]; Endothelial FIS1 DeSUMOylation Protects Against Hypoxic Pulmonary Hypertension., [RefSeq, PubMed]; HFis1 is part of the mammalian fission machinery and regulation of the fission processes might be involved in apoptotic mechanisms Erratum:[J Biol Chem. 2004 Aug 20;279(34):36166], [RefSeq, PubMed]; Involved in the fragmentation of the mitochondrial network and its perinuclear clustering (PubMed:12783892, PubMed:12861026, PubMed:14996942, PubMed:23283981). Plays a minor role in the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission (PubMed:12861026, PubMed:16118244, PubMed:23283981, PubMed:23530241, PubMed:24196833). May not be essential for the assembly of functional fission complexes and the subsequent membrane scission event (PubMed:23530241, PubMed:24196833). Also mediates peroxisomal fission (PubMed:16107562). May act when the products of fission are directed toward mitochondrial homeostasis, mitophagy, or apoptosis (PubMed:24196833). Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis (PubMed:12783892)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NOTCH localizes to mitochondria through the TBC1D15-FIS1 interaction and is stabilized via blockade of E3 ligase and CDK8 recruitment to reprogram tumor-initiating cells. Erratum:[Exp Mol Med. 2024 Oct;56(10):2323. doi: 10.1038/s12276-024-01325-9. PMID: 39465353], [RefSeq, PubMed]; PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates mitochondrial fission in mammalian cells through an interaction with the dynamin-like protein DLP1, [RefSeq, PubMed]; Structural studies of human fission protein FIS1 reveal a dynamic region important for GTPase DRP1 recruitment and mitochondrial fission., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BTP3", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:1905395 response to flavonoid;GO:1990910 response to hypobaric hypoxia;GO:0016559 peroxisome fission;GO:0071333 cellular response to glucose stimulus;GO:0031667 response to nutrient levels", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9Y3D6-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE31-1", "uniprot_id": [ { "id": "FA13C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE31", "type": "external" } ], "mass": 65727.0, "length": 585, "protein_name": "Protein FAM13C", "gene_name": "FAM13C", "organism": "Human", "refseq_name": "protein FAM13C isoform 2", "refseq_ac": [ { "id": "NP_001001971", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001971", "type": "external" } ], "gene_names_uniprotkb": "FAM13C; FAM13C1", "gene_names_refseq": "FAM13C1; FAM13C", "protein_names_uniprotkb": "Protein FAM13C", "protein_names_refseq": "family with sequence similarity 13, member C1; protein FAM13C isoform 2; protein FAM13C", "tax_id": 9606, "disease": "", "pathway": " (hsa:220965)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;20200953;28415558;31530632;31848261", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The results of our study demonstrate that expression of FAM13C is an independent prognostic marker in prostate cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZB77;Q5T631;Q6P2M3;Q99787", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NE31-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99819-1", "uniprot_id": [ { "id": "GDIR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99819", "type": "external" } ], "mass": 25098.0, "length": 225, "protein_name": "Rho GDP-dissociation inhibitor 3", "gene_name": "ARHGDIG", "organism": "Human", "refseq_name": "rho GDP-dissociation inhibitor 3", "refseq_ac": [ { "id": "NP_001167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167", "type": "external" } ], "gene_names_uniprotkb": "ARHGDIG", "gene_names_refseq": "ARHGDIG; RHOGDI-3", "protein_names_uniprotkb": "Rho GDP-dissociation inhibitor 3; Rho GDI 3; Rho-GDI gamma", "protein_names_refseq": "Rho GDP dissociation inhibitor (GDI) gamma; RhoGDI gamma; rho GDI 3; rho GDP-dissociation inhibitor 3; rho-GDI gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:398); (R-HSA-9013026); (R-HSA-9013148); (R-HSA-9013407); (R-HSA-9013408)", "pathway_count": 5, "publication_count": 235, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10652265;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11368848;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11689693;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11809807;11864571;11884391;11912491;11948177;11967128;12071859;12093360;12096337;12172552;12177196;12195014;12221096;12351724;12376551;12432077;12464619;12473120;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15728722;15850391;15897194;15944396;16112081;16116428;16184169;16217026;16339170;16519628;16630611;16714282;16776779;16777452;16777849;16862148;16896804;16917499;16968698;17027967;17028588;17064668;17077126;17145773;17196961;17198702;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18786931;18802007;18835169;18838382;18929667;19581409;19605563;19713215;19934221;20098615;20101212;20184954;20679435;20851766;21148482;21373644;21454492;21542010;21565175;21613211;21621533;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23200924;23255595;23406282;23434736;23572525;23718289;24086303;24128008;24259668;24335996;24352656;24584464;24659802;24933155;24996924;25024229;25211221;25673874;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26529257;26598554;26887924;27096001;27145964;27216196;27481945;27555588;27798618;27832197;28028151;28196833;28825699;28860633;29510700;30061681;30853411;31844290;31871319;32203420;38029612;7476457;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8543060;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9787082;9792683;9822605;9829970;9843499;9846874", "class_list": "", "function": "Inhibits GDP/GTP exchange reaction of RhoB. Interacts specifically with the GDP- and GTP-bound forms of post-translationally processed Rhob and Rhog proteins, both of which show a growth-regulated expression in mammalian cells. Stimulates the release of the GDP-bound but not the GTP-bound RhoB protein. Also inhibits the GDP/GTP exchange of RhoB but shows less ability to inhibit the dissociation of prebound GTP., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; RhoGDI3 at the trans-Golgi network participates in NLRP3 inflammasome activation, VSMC phenotypic modulation, and neointima formation., [RefSeq, PubMed]; The GDP-dissociation inhibitors (GDIs) play a primary role in modulating the activation of GTPases by inhibiting the exchange of GDP for GTP. See ARHGDIB (MIM 602843).[supplied by OMIM, Nov 2010]., [RefSeq]; These results suggest that the levels of RhoG and RhoB GTPases and their negative regulator RhoGDI3 might be linked to the aggressiveness of the pancreatic cancerous cell lines. It is possible that RhoGDI3 could induce the downregulation of RhoG and RhoB. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4TT69;Q96S29", "ec_number_list": [], "go_molecular_function": "GO:0005094 Rho GDP-dissociation inhibitor activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0007162 negative regulation of cell adhesion;GO:0007266 Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 23.6, "record_id": "Q99819-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJY5-1", "uniprot_id": [ { "id": "GGA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJY5", "type": "external" } ], "mass": 70384.0, "length": 639, "protein_name": "ADP-ribosylation factor-binding protein GGA1", "gene_name": "GGA1", "organism": "Human", "refseq_name": "ADP-ribosylation factor-binding protein GGA1 isoform 2", "refseq_ac": [ { "id": "NP_001001560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001560", "type": "external" } ], "gene_names_uniprotkb": "GGA1", "gene_names_refseq": "GGA1", "protein_names_uniprotkb": "ADP-ribosylation factor-binding protein GGA1; Gamma-adaptin-related protein 1; Golgi-localized, gamma ear-containing, ARF-binding protein 1", "protein_names_refseq": "ADP-ribosylation factor binding protein 1; ADP-ribosylation factor-binding protein GGA1 isoform 2; ADP-ribosylation factor-binding protein GGA1; gamma-adaptin related protein 1; golgi-localized, gamma ear-containing, ARF-binding protein 1", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:26088); (R-HSA-8854214); (R-HSA-977225)", "pathway_count": 3, "publication_count": 168, "publication_id_list": "10097139;10202141;10319874;10391242;10411933;10583407;10747088;10747089;10749927;10814529;10956649;11237011;11278841;11301005;11387475;11390366;11401442;11467836;11590439;11821067;11859376;118839;11950392;12060753;12454989;12505986;12538641;12578827;12679809;1270801;12808037;12858163;14506261;14567678;14638859;14660606;14665628;14690499;15039775;15064394;15143060;15615712;15758025;15886016;15962837;16055087;16174740;16395330;16799559;16959974;17425515;17525332;17658474;17855360;17901050;18065497;18070888;18199687;18319245;1837051;18449172;18466115;18477386;18484335;1849145;19011241;19658395;19828817;20015111;20068231;20095038;20116244;20363736;20404108;20676056;20676133;20807650;2118650;21383079;21458671;2195544;22065755;22131221;22219378;22522702;22613832;22762500;22795129;22854040;23019362;23186163;23301498;23562278;23813966;2409350;24275569;24833601;24893886;25505266;25523424;25576301;25645385;25880248;26018760;26417681;26668317;26686862;26807092;26811146;26992070;27600516;27901063;27920218;279930;28228285;28832583;28834231;28904123;2900981;29242379;29393594;29557506;29632046;3035556;30429286;3053705;3080684;3094007;31092671;31154438;3142462;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33298915;33912179;33936100;33968037;34087483;34171305;34357683;34509645;35051231;35494241;35580925;36010968;36284347;3675579;39894887;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427", "class_list": "", "function": "Plays a role in protein sorting and trafficking between the trans-Golgi network (TGN) and endosomes. Mediates the ARF-dependent recruitment of clathrin to the TGN and binds ubiquitinated proteins and membrane cargo molecules with a cytosolic acidic cluster-dileucine (DXXLL) motif (PubMed:11301005, PubMed:15886016). Mediates export of the GPCR receptor ADRA2B to the cell surface (PubMed:27901063). Required for targeting PKD1:PKD2 complex from the trans-Golgi network to the cilium membrane (By similarity). Regulates retrograde transport of proteins such as phosphorylated form of BACE1 from endosomes to the trans-Golgi network (PubMed:15615712, PubMed:15886016)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3D3;B0QYR7;Q5R3N1;Q5TG07;Q6IC75;Q86YA9;Q8NCS6;Q9BW94;Q9UG00;Q9UGW0;Q9UGW1", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0035091 phosphatidylinositol binding;GO:0043130 ubiquitin binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0008104 intracellular protein localization;GO:0043001 Golgi to plasma membrane protein transport;GO:0042147 retrograde transport, endosome to Golgi;GO:0034394 protein localization to cell surface", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "Q9UJY5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02538-1", "uniprot_id": [ { "id": "K2C6A_HUMAN", "url": "https://www.uniprot.org/uniprot/P02538", "type": "external" } ], "mass": 60045.0, "length": 564, "protein_name": "Keratin, type II cytoskeletal 6A", "gene_name": "KRT6A", "organism": "Human", "refseq_name": "keratin, type II cytoskeletal 6A", "refseq_ac": [ { "id": "NP_005545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005545", "type": "external" } ], "gene_names_uniprotkb": "KRT6A; K6A; KRT6D", "gene_names_refseq": "CK-6C; CK-6E; CK6A; CK6C; CK6D; K6A; K6C; K6D; KRT6A; KRT6C; KRT6D; PC3", "protein_names_uniprotkb": "Keratin, type II cytoskeletal 6A; CK-6A; CK-6D; Cytokeratin-6A; Cytokeratin-6D; K6A; Keratin-6A; Type-II keratin Kb6", "protein_names_refseq": "cytokeratin 6A; cytokeratin 6C; cytokeratin 6D; keratin 6A, type II; keratin, epidermal type II, K6A; keratin, type II cytoskeletal 6A; type-II keratin Kb6", "tax_id": 9606, "disease": "pachyonychia congenita (Disease Ontology:DOID:0050449); pachyonychia congenita 3 (MONDO:MONDO:0014324)", "pathway": " (hsa:3853); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10066784;10196183;10231017;10232400;10411887;10588656;10771479;11350120;11380615;11590230;11886499;12902340;15033990;15337775;15373777;15387942;15731013;15797384;15803139;15840119;16061697;16250206;16382671;16639001;1691188;1694855;1714783;17309457;17515931;17521629;17562024;1756717;17596512;17719747;18489596;18843291;18991276;19190773;19194479;19416275;20179351;20657595;20667819;20940292;21326300;21439340;21654840;21997417;22668561;23006328;23481192;23629652;23783831;24029068;2414304;25208914;25645385;25926655;26375851;26390218;26758872;26853435;27452731;27862975;27920218;28228285;28514659;29191848;29314611;29393594;29632711;29786170;29789417;30524438;31844290;32157095;32350084;32373127;32387766;33043033;33981976;34019948;34078123;34087483;34171305;36215666;37766482;38505868;38613239;38665916;38729352;6191871;7543090;7543104;7545493;8824274;8999895;9395522;9468612;9565599", "class_list": "", "function": "ECM1 and KRT6A are involved in tumor progression and chemoresistance in the effect of dexamethasone on pancreatic cancer., [RefSeq, PubMed]; KRT6A Inhibits IL-1beta-Mediated Pyroptosis of Keratinocytes via Blocking IL-17 Signaling., [RefSeq, PubMed]; Keratin 6A Is Expressed at the Invasive Front and Enhances the Progression of Colorectal Cancer., [RefSeq, PubMed]; Keratin-derived antimicrobial peptides (KDAMPs) and their synthetic analogs exhibit antimicrobial activity against bacterial pathogens., [RefSeq, PubMed]; Structural component of intermediate filaments in epithelial keratinocytes. Forms heteropolymers with the type I keratins KRT16 and KRT17, assembling into keratin intermediate filament networks that contributes to the structural integrity and stress resilience of stratified epithelia, particularly in epidermis, nail bed and oral mucosa (PubMed:11886499, PubMed:17719747, PubMed:7545493). Rapidly induced in wound-edge keratinocytes and participates in cytoskeletal reorganization during re-epithelialization (By similarity). Negatively regulates collective keratinocyte migration by stabilizing non-muscle myosin MYH9 and desmoplakin, thereby altering cell-cell and cell-matrix adhesion and reducing the speed and directionality of epithelial sheet movement during wound repair (By similarity). Also limits epithelial migration by inhibiting SRC activity during wound repair (By similarity). Required for normal palmoplantar, nail unit and oral mucosa integrity (PubMed:11886499, PubMed:17719747, PubMed:7545493)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The expression pattern of cytokeratin 6a in epithelial cells of different origin in dermo-epidermal skin substitutes in vivo., [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. As many as six of this type II cytokeratin (KRT6) have been identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been associated with pachyonychia congenita. In addition, peptides from the C-terminal region of the protein have antimicrobial activity against bacterial pathogens. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4QPC1;P48667;Q08AR4;Q6NT67;Q96CL4", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0045111 intermediate filament cytoskeleton", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0031424 keratinization;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P02538-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10588-1", "uniprot_id": [ { "id": "NR2F6_HUMAN", "url": "https://www.uniprot.org/uniprot/P10588", "type": "external" } ], "mass": 42979.0, "length": 404, "protein_name": "Nuclear receptor subfamily 2 group F member 6", "gene_name": "NR2F6", "organism": "Human", "refseq_name": "nuclear receptor subfamily 2 group F member 6", "refseq_ac": [ { "id": "NP_005225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005225", "type": "external" } ], "gene_names_uniprotkb": "NR2F6; EAR2; ERBAL2", "gene_names_refseq": "EAR-2; EAR2; ERBAL2; NR2F6", "protein_names_uniprotkb": "Nuclear receptor subfamily 2 group F member 6; EAR-2; V-erbA-related protein 2", "protein_names_refseq": "ERBA-related gene-2; V-erbA-related protein 2; nuclear receptor V-erbA-related; nuclear receptor subfamily 2 group F member 6; v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 2", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:2063); (R-HSA-383280)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10235266;10542397;10644740;10713182;11237011;11682620;11865025;15175151;15302935;15896744;16751179;18452278;18669648;18701084;19413330;20068231;20112406;24275569;26811146;26992070;27846572;27862975;2905047;30429286;31217245;31844290;32157095;32265295;32387766;32938616;33298915;33537174;33592498;33968037;34171305;34185709;35051231;35154160;36010968;36284347;36884115;37575237;37938771;38551071;38682559;9653119", "class_list": "", "function": "Concerted regulation of skeletal muscle metabolism and contractile properties by the orphan nuclear receptor Nr2f6., [RefSeq, PubMed]; NR2F6, a new immune checkpoint that acts as a potential biomarker of immunosuppression and contributes to poor clinical outcome in human glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of the orphan nuclear receptor NR2F6 is associated with improved survival across molecular subgroups in endometrial cancer patients., [RefSeq, PubMed]; Transcription factor predominantly involved in transcriptional repression. Binds to promoter/enhancer response elements that contain the imperfect 5'-AGGTCA-3' direct or inverted repeats with various spacings which are also recognized by other nuclear hormone receptors. Involved in modulation of hormonal responses. Represses transcriptional activity of the lutropin-choriogonadotropic hormone receptor/LHCGR gene, the renin/REN gene and the oxytocin-neurophysin/OXT gene. Represses the triiodothyronine-dependent and -independent transcriptional activity of the thyroid hormone receptor gene in a cell type-specific manner. The corepressing function towards thyroid hormone receptor beta/THRB involves at least in part the inhibition of THRB binding to triiodothyronine response elements (TREs) by NR2F6. Inhibits NFATC transcription factor DNA binding and subsequently its transcriptional activity. Acts as transcriptional repressor of IL-17 expression in Th-17 differentiated CD4(+) T cells and may be involved in induction and/or maintenance of peripheral immunological tolerance and autoimmunity. Involved in development of forebrain circadian clock; is required early in the development of the locus coeruleus (LC)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; UPK3A[+] umbrella cell damage mediated by TLR3-NR2F6 triggers programmed destruction of urothelium in Hunner-type interstitial cystitis/painful bladder syndrome., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RC68;Q5XGA0;Q6P586;Q9BUE8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P10588-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969H6-1", "uniprot_id": [ { "id": "POP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969H6", "type": "external" } ], "mass": 18820.0, "length": 163, "protein_name": "Ribonuclease P/MRP protein subunit POP5", "gene_name": "POP5", "organism": "Human", "refseq_name": "ribonuclease P/MRP protein subunit POP5 isoform a", "refseq_ac": [ { "id": "NP_057002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057002", "type": "external" } ], "gene_names_uniprotkb": "POP5; AD-008; HSPC004; x0003", "gene_names_refseq": "HSPC004; POP5; RPP20; RPP2; hPop5", "protein_names_uniprotkb": "Ribonuclease P/MRP protein subunit POP5; hPop5", "protein_names_refseq": "POP5 homolog, ribonuclease P/MRP subunit; processing of precursor 5, ribonuclease P/MRP subunit; ribonuclease P/MRP protein subunit POP5 isoform a; ribonuclease P/MRP protein subunit POP5", "tax_id": 9606, "disease": "", "pathway": " (hsa:51367); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10444065;10931946;11413139;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15096576;15109492;15317868;16361254;16710424;16723659;17081983;17204286;17224653;17322306;18226598;18669648;18691976;18809514;18984158;19413330;19415658;20068231;21311021;21406692;21450806;21559454;21593607;22944664;2470644;24870230;25418920;25469497;25576301;25640237;25849199;26992070;27600516;27920218;28063628;28115465;28218747;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;30315122;30410026;30429286;30454648;30484775;30833945;31154438;31844290;31848261;32157095;32161166;32265295;32387766;32897882;32938616;33592498;33912179;33936100;33968037;34171305;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:11413139, PubMed:30454648). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NL80;Q53FS5;Q9Y2Q6", "ec_number_list": [], "go_molecular_function": "GO:0004526 ribonuclease P activity;GO:0033204 ribonuclease P RNA binding", "go_cellular_component": "GO:0005655 nucleolar ribonuclease P complex;GO:0030681 multimeric ribonuclease P complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006396 RNA processing;GO:0006364 rRNA processing;GO:0001682 tRNA 5'-leader removal", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q969H6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZL3-1", "uniprot_id": [ { "id": "SMIM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZL3", "type": "external" } ], "mass": 6593.0, "length": 60, "protein_name": "Small integral membrane protein 3", "gene_name": "SMIM3", "organism": "Human", "refseq_name": "small integral membrane protein 3", "refseq_ac": [ { "id": "NP_116565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116565", "type": "external" } ], "gene_names_uniprotkb": "SMIM3; C5orf62; NID67", "gene_names_refseq": "C5orf62; MST150; NID67; SMIM3", "protein_names_uniprotkb": "Small integral membrane protein 3; NGF-induced differentiation clone 67 protein; Small membrane protein NID67", "protein_names_refseq": "NGF-induced differentiation clone 67 protein; Uncharacterized protein C5orf62; small integral membrane protein 3; small membrane protein NID67", "tax_id": 9606, "disease": "", "pathway": " (hsa:85027)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11288140;26992070;28218747;29437277;29493099;30315122;31844290;31848261;36550462", "class_list": "", "function": "Downregulation of SMIM3 inhibits growth of leukemia via PI3K-AKT signaling pathway and correlates with prognosis of adult acute myeloid leukemia with normal karyotype. Publication Status: Online-Only, [RefSeq, PubMed]; Reports cloning of rat NID67 and discussion of mouse and human orthologs., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3MIG3;Q6ZUV4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9BZL3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRG1-1", "uniprot_id": [ { "id": "VPS25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRG1", "type": "external" } ], "mass": 20748.0, "length": 176, "protein_name": "Vacuolar protein-sorting-associated protein 25", "gene_name": "VPS25", "organism": "Human", "refseq_name": "vacuolar protein-sorting-associated protein 25", "refseq_ac": [ { "id": "NP_115729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115729", "type": "external" } ], "gene_names_uniprotkb": "VPS25; DERP9; EAP20", "gene_names_refseq": "DERP9; EAP20; FAP20; VPS25", "protein_names_uniprotkb": "Vacuolar protein-sorting-associated protein 25; Dermal papilla-derived protein 9; ELL-associated protein of 20 kDa; ESCRT-II complex subunit VPS25; hVps25", "protein_names_refseq": "ELL-associated protein of 20 kDa; ESCRT-II complex subunit VPS25; dermal papilla-derived protein 9; vacuolar protein-sorting-associated protein 25", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); carcinoma (Disease Ontology:DOID:305)", "pathway": " (hsa:84313); (R-HSA-917729); (R-HSA-9610379)", "pathway_count": 3, "publication_count": 70, "publication_id_list": "11237011;11563910;14505570;14519844;14624836;15007060;15075231;15218037;15511219;16371348;16889659;16973552;18539118;18723511;19640981;19686684;21757351;23481700;24366607;25418920;25645385;26154972;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;30315122;30410026;30429286;30833945;31092671;31154438;31530632;31844290;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33298915;33592498;33717175;33912179;33936100;33968037;34171305;34357683;34509645;34932366;35051231;35318648;35580925;36010968;36241641;36284347;38665916", "class_list": "", "function": "Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in facilitating the budding of certain RNA viruses., [UniProtKB, PubMed]; Results describe the mapping of multivesicular bodies with the second winged helix domain of human ESCRT-II subunit VPS25 and the first helix of ESCRT-III subunit VPS20., [RefSeq, PubMed]; This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R581", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0000814 ESCRT II complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0036258 multivesicular body assembly;GO:0043328 protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;GO:0006351 DNA-templated transcription;GO:0016236 macroautophagy;GO:0007175 negative regulation of epidermal growth factor-activated receptor activity", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9BRG1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NT0-1", "uniprot_id": [ { "id": "VMA22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NT0", "type": "external" } ], "mass": 19761.0, "length": 180, "protein_name": "Vacuolar ATPase assembly protein VMA22", "gene_name": "VMA22", "organism": "Human", "refseq_name": "vacuolar ATPase assembly protein VMA22 isoform b", "refseq_ac": [ { "id": "NP_001308047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308047", "type": "external" } ], "gene_names_uniprotkb": "VMA22; CCDC115", "gene_names_refseq": "CCDC115; CDG2O; VMA22; ccp1", "protein_names_uniprotkb": "Vacuolar ATPase assembly protein VMA22; Coiled-coil domain-containing protein 115", "protein_names_refseq": "coiled-coil domain containing 115; coiled-coil domain-containing protein 115; vacuolar ATPase assembly protein VMA22 isoform b; vacuolar ATPase assembly protein VMA22", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIo (Disease Ontology:DOID:0070267)", "pathway": " (hsa:84317); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 198, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16378758;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18829452;19494238;19605563;19635168;19673492;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24715725;24933155;25211221;25576301;25704760;26371245;26529257;26833332;26887924;26992070;27145964;27216196;27481945;27600516;27862975;27986909;28112683;28196833;28218747;28296633;28584191;28832583;28834231;29146911;29242379;29437277;29557506;29632046;29632711;29759592;29786170;29890952;30315122;30429286;30833945;31105010;31844290;31848261;31871319;31998317;32043565;32157095;32203420;32357974;32387766;32488085;32502341;32510613;32897882;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34626841;35051231;36284347;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Accessory component of the proton-transporting vacuolar (V)-ATPase protein pump involved in intracellular iron homeostasis. In aerobic conditions, required for intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation. Necessary for endolysosomal acidification and lysosomal degradation (PubMed:28296633). May be involved in Golgi homeostasis (PubMed:26833332)., [UniProtKB, PubMed, PubMed]; CCDC115 is associated with less aggressive prostate cancer in humans. Publication Status: Online-Only, [RefSeq, PubMed]; CCDC115 mutation is associated with Congenital disorders of glycosylation causing liver disease., [RefSeq, PubMed]; Defective Lipid Droplet-Lysosome Interaction Causes Fatty Liver Disease as Evidenced by Human Mutations in TMEM199 and CCDC115., [RefSeq, PubMed]; Genetic screens reveal CCDC115 as a modulator of erythroid iron and heme trafficking., [RefSeq, PubMed]; Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain., [RefSeq, PubMed]; Our study reveals CCDC115 deficiency as a disorder of Golgi homeostasis that can be readily identified via screening for abnormal glycosylation in plasma., [RefSeq, PubMed]; The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016]., [RefSeq]; Vacuolar H+ ATPase (V-ATPase), the key proton pump for endo-lysosomal acidification, and two previously uncharacterised V-ATPase assembly factors, TMEM199 and CCDC115, stabilise HIF1alpha in aerobic conditions. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DJ47;Q9BR88", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0006879 intracellular iron ion homeostasis;GO:0070072 vacuolar proton-transporting V-type ATPase complex assembly;GO:0007042 lysosomal lumen acidification;GO:0036295 cellular response to increased oxygen levels;GO:1905146 lysosomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.9, "record_id": "Q96NT0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28702-1", "uniprot_id": [ { "id": "RXRB_HUMAN", "url": "https://www.uniprot.org/uniprot/P28702", "type": "external" } ], "mass": 56922.0, "length": 533, "protein_name": "Retinoic acid receptor RXR-beta", "gene_name": "RXRB", "organism": "Human", "refseq_name": "retinoic acid receptor RXR-beta isoform 1", "refseq_ac": [ { "id": "NP_001257330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257330", "type": "external" } ], "gene_names_uniprotkb": "RXRB; NR2B2", "gene_names_refseq": "DAUDI6; H-2RIIBP; NR2B2; RCoR-1; RXR-beta; RXRB; RXRbeta", "protein_names_uniprotkb": "Retinoic acid receptor RXR-beta; Nuclear receptor subfamily 2 group B member 2; Retinoid X receptor beta", "protein_names_refseq": "MHC class I promoter binding protein; nuclear receptor subfamily 2 group B member 2; retinoic acid receptor RXR-beta isoform 1; retinoic acid receptor RXR-beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:6257); (R-HSA-1989781); (R-HSA-383280); (R-HSA-5362517); (R-HSA-9029558); (R-HSA-9029569); (R-HSA-9031525); (R-HSA-9031528); (R-HSA-9623433); (R-HSA-9632974)", "pathway_count": 10, "publication_count": 123, "publication_id_list": "10235266;10493790;10542397;10777541;10858438;11149950;11237011;11267664;11287605;11414710;11500512;11604492;11782480;11790787;11865025;11875109;11909957;12032151;12118000;12150943;12177166;12454263;12505311;12518032;12582161;12612088;12970175;1310259;1315958;14572640;14703507;14764426;15067378;15130092;15147902;15175151;15635043;15866176;15896744;16380219;16751179;16871576;16972786;17186944;17684114;18540824;18542081;18719978;18782758;18848529;19088433;19144697;19481530;19520913;19710929;19850744;19934321;20042001;20110263;20215566;20466882;20466885;20494359;20566875;20855588;21030586;21187453;21310851;21504868;21507939;21998312;22541735;22673513;22871568;22936343;23496987;23519696;23790976;23991366;24129315;24196956;24715725;25645385;26375851;26463675;26811146;26984517;26992070;28082258;28167758;28510447;28842423;28869506;29242379;29493099;29772548;31217245;31844290;31848261;32157095;32387766;32938616;33246082;33298915;33912179;33936100;33968037;34019948;34087483;35051231;35580925;36010968;36241641;37938771;7685352;7704533;7892212;8381386;8402897;8647822;9012850;9653119;9748239", "class_list": "", "function": "Genetic variant of RXR involved in the vitamin D metabolic pathway was linked to HCV infection outcomes among a high-risk Chinese population., [RefSeq, PubMed]; Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE)., [UniProtKB, PubMed]; This gene encodes a member of the retinoid X receptor (RXR) family of nuclear receptors which are involved in mediating the effects of retinoic acid (RA). The encoded protein forms homodimers with the retinoic acid, thyroid hormone, and vitamin D receptors, increasing both DNA binding and transcriptional function on their respective response elements. This gene lies within the major histocompatibility complex (MHC) class II region on chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P28703;Q59G65;Q5JP92;Q5STQ1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003707 nuclear steroid receptor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0031490 chromatin DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0071300 cellular response to retinoic acid;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P28702-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55283-1", "uniprot_id": [ { "id": "CADH4_HUMAN", "url": "https://www.uniprot.org/uniprot/P55283", "type": "external" } ], "mass": 100281.0, "length": 916, "protein_name": "Cadherin-4", "gene_name": "CDH4", "organism": "Human", "refseq_name": "cadherin-4 isoform 3", "refseq_ac": [ { "id": "NP_001239268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239268", "type": "external" } ], "gene_names_uniprotkb": "CDH4", "gene_names_refseq": "CAD4; CDH4; R-CAD; RCAD", "protein_names_uniprotkb": "Cadherin-4; R-CAD; R-cadherin; Retinal cadherin", "protein_names_refseq": "R-cadherin; cadherin 4, type 1, R-cadherin (retinal); cadherin 4, type 1, preproprotein; cadherin-4 isoform 3; retinal cadherin", "tax_id": 9606, "disease": "", "pathway": " (hsa:1002); (R-HSA-418990); (R-HSA-525793)", "pathway_count": 3, "publication_count": 37, "publication_id_list": "10.1038/emboj.2013.79;10225955;10330143;10601328;10805738;11237011;11782431;12050160;12634428;16467305;17967169;19354288;19564926;20160094;2059658;23584533;25372031;25576301;28218747;28228285;29557506;33592498;35064910;36362280;37237299;38143373;38402159;40307207;7806582;7982033;9069290;9219219;9418854;9786951;9845526;9858528;9988769", "class_list": "", "function": "Alu Deletions in LAMA2 and CDH4 Genes Are Key Components of Polygenic Predictors of Longevity. Publication Status: Online-Only, [RefSeq, PubMed]; CDH4 inhibits ferroptosis in oral squamous cell carcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Cadherin switches during epithelial-mesenchymal transition: CDH4/RCAD downregulation reduces bladder cancer progression., [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May play an important role in retinal development., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cytosolic Cadherin 4 promotes angiogenesis and metastasis in papillary thyroid cancer by suppressing the ubiquitination/degradation of beta-catenin. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Based on studies in chicken and mouse, this cadherin is thought to play an important role during brain segmentation and neuronal outgrowth. In addition, a role in kidney and muscle development is indicated. Of particular interest are studies showing stable cis-heterodimers of cadherins 2 and 4 in cotransfected cell lines. Previously thought to interact in an exclusively homophilic manner, this is the first evidence of cadherin heterodimerization. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]; Understanding the Role of CDH4 in Multiple System Atrophy Brain., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 6, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 74, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B3KWB8;G3V1P8;Q2M208;Q5VZ44;Q9BZ05", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016342 catenin complex", "go_biological_process": "GO:0007155 cell adhesion;GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P55283-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16389-1", "uniprot_id": [ { "id": "KCNA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P16389", "type": "external" } ], "mass": 56717.0, "length": 499, "protein_name": "Potassium voltage-gated channel subfamily A member 2", "gene_name": "KCNA2", "organism": "Human", "refseq_name": "potassium voltage-gated channel subfamily A member 2 isoform b", "refseq_ac": [ { "id": "NP_001191198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191198", "type": "external" } ], "gene_names_uniprotkb": "KCNA2", "gene_names_refseq": "DEE32; EIEE32; HBK5; HK4; HUKIV; KCNA2; KV1.2; MK2; NGK1; RBK2", "protein_names_uniprotkb": "Potassium voltage-gated channel subfamily A member 2; NGK1; Voltage-gated K(+) channel HuKIV; Voltage-gated potassium channel HBK5; Voltage-gated potassium channel subunit Kv1.2", "protein_names_refseq": "potassium channel, voltage gated shaker related subfamily A, member 2; potassium voltage-gated channel subfamily A member 2 isoform b; potassium voltage-gated channel, shaker-related subfamily, member 2; voltage-gated K(+) channel HuKIV; voltage-gated potassium channel HBK5; voltage-gated potassium channel protein Kv1.2; voltage-gated potassium channel subunit Kv1.2", "tax_id": 9606, "disease": "episodic ataxia type 1 (Disease Ontology:DOID:0050989); developmental and epileptic encephalopathy 32 (Disease Ontology:DOID:0080416); epilepsy (Disease Ontology:DOID:1826); Nizon-Isidor syndrome (MONDO:MONDO:0030030)", "pathway": " (hsa:3737); (R-HSA-1296072)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10624965;11086297;11211111;11237011;12151401;15215309;16473933;17917103;18056633;19389710;19713757;19912772;20220134;20393197;21231794;22649228;23769686;24613312;25477152;25751627;27864847;28904123;29557506;30779550;31844290;31848261;32357974;32387766;32502341;32833227;34576077;35051231;35439054;37883018;38309639;38517617;38665908;40778948;8495559", "class_list": "", "function": "An epilepsy-associated KV1.2 charge-transfer-center mutation impairs KV1.2 and KV1.4 trafficking., [RefSeq, PubMed]; KCNA2 IgG autoimmunity in neuropsychiatric diseases., [RefSeq, PubMed]; Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. The coding region of this gene is intronless, and the gene is clustered with genes KCNA3 and KCNA10 on chromosome 1. [provided by RefSeq, Jul 2008]., [RefSeq]; Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology. Review article, [RefSeq, PubMed]; Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression., [RefSeq, PubMed]; Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain and the central nervous system, but also in the cardiovascular system. Prevents aberrant action potential firing and regulates neuronal output. Forms tetrameric potassium-selective channels through which potassium ions pass in accordance with their electrochemical gradient. The channel alternates between opened and closed conformations in response to the voltage difference across the membrane (PubMed:11211111, PubMed:19912772, PubMed:23769686, PubMed:8495559). Can form functional homotetrameric channels and heterotetrameric channels that contain variable proportions of KCNA1, KCNA2, KCNA4, KCNA5, KCNA6, KCNA7, and possibly other family members as well; channel properties depend on the type of alpha subunits that are part of the channel (PubMed:20220134, PubMed:8495559). Channel properties are modulated by cytoplasmic beta subunits that regulate the subcellular location of the alpha subunits and promote rapid inactivation of delayed rectifier potassium channels. In vivo, membranes probably contain a mixture of heteromeric potassium channel complexes, making it difficult to assign currents observed in intact tissues to any particular potassium channel family member. Homotetrameric KCNA2 forms a delayed-rectifier potassium channel that opens in response to membrane depolarization, followed by slow spontaneous channel closure (PubMed:19912772, PubMed:23769686). In contrast, a heteromultimer formed by KCNA2 and KCNA4 shows rapid inactivation (PubMed:8495559). Regulates neuronal excitability and plays a role as pacemaker in the regulation of neuronal action potentials (By similarity). KCNA2-containing channels play a presynaptic role and prevent hyperexcitability and aberrant action potential firing (By similarity). Response to toxins that are selective for KCNA2-containing potassium channels suggests that in Purkinje cells, dendritic subthreshold KCNA2-containing potassium channels prevent random spontaneous calcium spikes, suppressing dendritic hyperexcitability without hindering the generation of somatic action potentials, and thereby play an important role in motor coordination (By similarity). Plays a role in the induction of long-term potentiation of neuron excitability in the CA3 layer of the hippocampus (By similarity). May function as down-stream effector for G protein-coupled receptors and inhibit GABAergic inputs to basolateral amygdala neurons (By similarity). May contribute to the regulation of neurotransmitter release, such as gamma-aminobutyric acid (GABA) (By similarity). Contributes to the regulation of the axonal release of the neurotransmitter dopamine (By similarity). Reduced KCNA2 expression plays a role in the perception of neuropathic pain after peripheral nerve injury, but not acute pain (By similarity). Plays a role in the regulation of the time spent in non-rapid eye movement (NREM) sleep (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R0D3;A8K1Z6;Q86XG6", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005251 delayed rectifier potassium channel activity;GO:0015271 outward rectifier potassium channel activity;GO:0005267 potassium channel activity;GO:0019894 kinesin binding;GO:1905030 voltage-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0044305 calyx of Held;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030027 lamellipodium", "go_biological_process": "GO:0019228 neuronal action potential;GO:0051260 protein homooligomerization;GO:0001508 action potential;GO:0014059 regulation of dopamine secretion;GO:0019233 sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P16389-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6E2-1", "uniprot_id": [ { "id": "5MP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6E2", "type": "external" } ], "mass": 48162.0, "length": 419, "protein_name": "eIF5-mimic protein 1", "gene_name": "BZW2", "organism": "Human", "refseq_name": "eIF5-mimic protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001153239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153239", "type": "external" } ], "gene_names_uniprotkb": "BZW2; 5MP1; HSPC028; MSTP017", "gene_names_refseq": "5MP1; BZW2; HSPC028; MST017; MSTP017", "protein_names_uniprotkb": "eIF5-mimic protein 1; Basic leucine zipper and W2 domain-containing protein 2", "protein_names_refseq": "basic leucine zipper and W2 domain-containing protein 2; eIF5-mimic protein 1 isoform 1; eIF5-mimic protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:28969)", "pathway_count": 1, "publication_count": 97, "publication_id_list": "11237011;17081983;18452278;18669648;18691976;19413330;19415658;19608861;19651622;19690332;19913121;20068231;20628086;21406692;21745818;22869377;24715725;25147208;25576301;25645385;25810538;25880248;26154972;26375851;26992070;27600516;27862975;27920218;28228285;28510447;28514659;28832583;28834231;28904123;28981728;29242379;29331515;29371260;29393594;29470543;29493099;29508533;29557506;29786170;29789417;30429286;30484775;30524438;30620550;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33214551;33392160;33537174;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34260931;34405274;34509645;34725712;34932366;35051231;35068373;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37067340;37222774;37938771;38154691;38538258;38665916;40596516;40914422", "class_list": "", "function": "5MP1 (BZW2) acts as a partial mimic and competitor of eIF5, interfering with the key steps by which eIF5 regulates eIF2 function., [RefSeq, PubMed]; BZW2 Inhibition Reduces Colorectal Cancer Growth and Metastasis., [RefSeq, PubMed]; Interactome Analysis Identifies the Role of BZW2 in Promoting Endoplasmic Reticulum-Mitochondria Contact and Mitochondrial Metabolism., [RefSeq, PubMed]; M6A methyltransferase METTL3 facilitates multiple myeloma cell growth through the m6A modification of BZW2., [RefSeq, PubMed]; MiR-140-3p attenuated the tumorigenesis of multiple myeloma via attenuating BZW2., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Prognostic and Immune Significance of BZW2 in Pan-Cancer and its Relationship with Proliferation and Apoptosis of Cervical Cancer., [RefSeq, PubMed]; Translation initiation regulator which represses non-AUG initiated translation and repeat-associated non-AUG (RAN) initiated translation by acting as a competitive inhibitor of eukaryotic translation initiation factor 5 (EIF5) function (PubMed:21745818, PubMed:28981728, PubMed:29470543, PubMed:34260931). Increases the accuracy of translation initiation by impeding EIF5-dependent translation from non-AUG codons by competing with it for interaction with EIF2S2 within the 43S pre-initiation complex (PIC) in an EIF3C-binding dependent manner (PubMed:21745818, PubMed:28981728, PubMed:34260931)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D123;Q3B779;Q96JW5;Q9H3F7", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006446 regulation of translational initiation;GO:0006417 regulation of translation", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q9Y6E2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13263-1", "uniprot_id": [ { "id": "TIF1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13263", "type": "external" } ], "mass": 88550.0, "length": 835, "protein_name": "Transcription intermediary factor 1-beta", "gene_name": "TRIM28", "organism": "Human", "refseq_name": "transcription intermediary factor 1-beta", "refseq_ac": [ { "id": "NP_005753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005753", "type": "external" } ], "gene_names_uniprotkb": "TRIM28; KAP1; RNF96; TIF1B", "gene_names_refseq": "KAP1; PPP1R157; RNF96; TF1B; TIF1B; TIF1beta; TRIM28; WT7", "protein_names_uniprotkb": "Transcription intermediary factor 1-beta; 2.3.2.27; E3 SUMO-protein ligase TRIM28; KAP-1; KRAB-associated protein 1; KRAB-interacting protein 1; KRIP-1; Nuclear corepressor KAP-1; RING finger protein 96; RING-type E3 ubiquitin transferase TIF1-beta; TIF1-beta; Tripartite motif-containing protein 28", "protein_names_refseq": "E3 SUMO-protein ligase TRIM28; KRAB [Kruppel-associated box domain]-associated protein 1; KRAB-interacting protein 1; KRIP-1; RING finger protein 96; RING-type E3 ubiquitin transferase TIF1-beta; TIF1-beta; nuclear corepressor KAP-1; protein phosphatase 1, regulatory subunit 157; transcription intermediary factor 1-beta; transcriptional intermediary factor 1-beta", "tax_id": 9606, "disease": "Wilms tumor 7 (MONDO:MONDO:0979876)", "pathway": " (hsa:10155); (R-HSA-212436); (R-HSA-3899300); (R-HSA-9609690); (R-HSA-9843940)", "pathway_count": 5, "publication_count": 291, "publication_id_list": "10235266;10330177;10347202;11013263;11226167;11230151;11237011;11395415;11477070;11842083;11959841;12150977;12529333;12679040;12718889;12857923;12869583;14519192;14536086;14654843;15175151;15766567;15882967;15896744;15958389;15976810;16098147;16107876;16140760;16567619;16606702;16719718;16757475;16792528;16862143;16954381;16964243;17056014;17079232;17081983;17081986;17178852;17287340;17298944;17322306;17344846;17369852;17512541;17525332;17535915;17704056;17803295;17924679;17942393;17942928;18060868;18077418;18082607;18203656;18211901;18212344;18220336;18339323;18452278;18488044;18491316;18535146;18578522;18590578;18669648;18675275;18707149;18767875;19007248;19240082;19367720;19413330;19415658;19584288;19596686;19608861;19615980;19651622;19664994;19664995;19682613;19690332;19691289;19710015;19995069;20058876;20068231;20098713;20112406;20166139;20176810;2028256;20388717;20424263;20515076;20562864;20676127;20858735;20864041;21228624;21338522;21406692;21527249;21549307;2163759;21690215;21940674;22174689;22205726;22223895;22424782;22467880;22491012;22496453;22645359;22713328;22715096;22732494;22967762;23034801;23096706;23149945;23186163;23301498;23404503;23481700;23543754;23645696;23665872;23673342;23678292;23719902;23740979;23783831;23935532;24275569;24366607;24623306;24657165;24714562;24715725;24741090;24907272;25114211;25173174;25218447;25274305;25418920;25576301;25593309;25645385;25755297;25772364;25800734;25846574;25905708;26154972;26158765;26375851;26572645;26758079;26813693;26992070;27029610;27364555;27452731;27501258;27588518;27600516;27846572;27862975;27920218;28063628;28228285;28273063;28415052;28467828;28510447;28514659;28649982;28832583;28834231;28864417;28869544;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29912901;29955894;30042493;30206173;30315122;30323812;30360396;30429286;30484775;30694527;30761409;30779550;30885698;31217245;31289231;31373491;31427381;31844290;31856708;32051553;32068487;32119511;32133046;32157095;32265295;32290532;32350084;32357974;32387766;32488085;32502341;32522876;32890405;32897882;32938616;32983136;33043033;33123756;33141586;33154469;33214551;33298915;33392160;33465208;33514850;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34373456;34405274;34419074;34509645;34561969;34725712;34932366;35031618;35051231;35083852;35251023;35318648;35350437;35533307;35561310;35580925;36010968;36241641;36284347;37938771;38172120;38495890;38665916;39222175;39294431;39420004;39847191;39920527;40596516;40914422;41109928;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "(Microbial infection) Plays a critical role in the shutdown of lytic gene expression during the early stage of herpes virus 8 primary infection. This inhibition is mediated through interaction with herpes virus 8 protein LANA1., [UniProtKB, PubMed]; (Microbial infection) Plays a positive role in SARS-CoV-2 virulence by mediating SUMOylation of nucleoprotein that promotes its RNA association leading to viral replication and innate antiviral immunity inhibition., [UniProtKB, PubMed]; E3 SUMO and ubiquitin ligase that plays a pivotal role in embryonic development, genomic imprinting, and maintenance of genomic stability through repression of repetitive and retroviral elements. Also involved in DNA repair, regulation of innate immunity or cellular energy homeostasis. Acts as a scaffold for assembling transcriptional repression complexes containing methyltransferases, histone deacetylases, and chromatin remodelers. Serves as a nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs), mediating gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1, which methylates histone H3 at Lys-9 (H3K9me), leading to heterochromatin formation. In collaboration with SETDB1, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA-methylation independent-pathway (By similarity). Functions as a coactivator for CEBPB and NR3C1 (glucocorticoid receptor) in transcriptional activation of ORM1, and as a corepressor for ERBB4. Inhibits E2F1 activity by promoting E2F1-HDAC1 complex formation and preventing E2F1 acetylation. This contributes to CDKN1A/p21(CIP1) regulation and provides a partial backup to suppress E2F1-mediated apoptosis in the absence of RB1. Mediates the nuclear localization of several KRAB-ZFP transcription factors including KOX1, ZNF268, and ZNF300 among others. In association with isoform 2 of ZFP90, is required for the transcriptional repressor activity of FOXP3 and the suppressive function of regulatory T-cells (Treg)(PubMed:23543754). Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:24623306). Acts as a corepressor for ZFP568. Beyond its nuclear functions, acts as a positive regulator of type I interferon (IFN-I) signaling by promoting Lys-63-linked ubiquitination of TBK1, facilitating TBK1-IRF3 complex formation (PubMed:38495890). Mediates TRAF6 SUMOylation to regulate its nucleo-cytoplasmic shuttling and modulate activation of the canonical NF-kappa-B signaling pathway (PubMed:39920527). Facilitates SUMOylation of NLRP3, protecting it from 'Lys-48'-linked ubiquitination and proteasomal degradation and thereby enhancing inflammasome activation (PubMed:34373456)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NUP37 accumulation mediated by TRIM28 enhances lipid synthesis to accelerate HCC progression., [RefSeq, PubMed]; OTUD5 promotes end-joining of deprotected telomeres by promoting ATM-dependent phosphorylation of KAP1[S824]. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM28 promotes tumor growth and metastasis in breast cancer by targeting the BRD7 protein for ubiquitination and degradation., [RefSeq, PubMed]; The protein encoded by this gene mediates transcriptional control by interaction with the Kruppel-associated box repression domain found in many transcription factors. The protein localizes to the nucleus and is thought to associate with specific chromatin regions. The protein is a member of the tripartite motif family. This tripartite motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 53, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O00677;Q7Z632;Q93040;Q96IM1", "ec_number_list": [ { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.1.1.366", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.366", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0035851 Krueppel-associated box domain binding;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000791 euchromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0044790 suppression of viral release by host;GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0016925 protein sumoylation", "synthesized_glycan_count": 0, "hit_score": 29.7, "record_id": "Q13263-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUN8-1", "uniprot_id": [ { "id": "DERL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUN8", "type": "external" } ], "mass": 28801.0, "length": 251, "protein_name": "Derlin-1", "gene_name": "DERL1", "organism": "Human", "refseq_name": "derlin-1 isoform b", "refseq_ac": [ { "id": "NP_001128143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128143", "type": "external" } ], "gene_names_uniprotkb": "DERL1; DER1; PRO276", "gene_names_refseq": "DER-1; DER1; DERL1; derlin-1", "protein_names_uniprotkb": "Derlin-1; DERtrin-1; Degradation in endoplasmic reticulum protein 1; Der1-like protein 1", "protein_names_refseq": "DERtrin-1; Der1-like domain family, member 1; degradation in endoplasmic reticulum protein 1; derlin-1 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:79139); (R-HSA-382556); (R-HSA-532668); (R-HSA-5678895); (R-HSA-8866654); (R-HSA-9931269)", "pathway_count": 6, "publication_count": 221, "publication_id_list": "10484077;10562279;10665657;10748049;10788335;10929008;11146634;11237011;11504826;11562789;11740563;11812794;12114544;12145188;12379217;12379510;12403779;12604685;12975309;1352877;1356264;1359686;1377674;14661924;15175422;15215855;15215856;15358861;15362974;15472518;15611333;15863492;15899824;16055502;16168377;16186509;16186510;16289116;16307923;16449189;16816140;16868077;16901789;1695717;17108083;17130289;17523162;17726030;17855752;17872946;17894550;17977821;18282684;18316726;18359941;18434309;18524852;18669648;18675248;18716059;18719106;19002207;19121997;19208625;19275885;19410543;19447222;19570978;1968359;19723507;19818707;19862647;1998343;20058876;20583968;20621639;21083385;21203937;21329877;2135388;21396873;21554508;21652558;22016385;22021426;22047557;2210768;22178883;22223895;22318583;2236053;22424782;23063411;23186163;23481700;24019521;24160817;24662292;24685677;24714562;2475911;24807418;24979766;25030448;25133187;25170678;25239945;25576301;25584290;25645385;2570070;2570460;25892735;25936802;26086376;26154972;26208431;26210183;26216882;26344566;26350214;26375851;26565908;26611529;26692333;26711259;26728094;26992070;27397612;27569044;27597759;27600516;27714797;27798111;27846572;27862975;27920218;28132103;28218747;28228285;28467828;28514659;28832583;28834231;28904123;2898143;29055231;29242379;29275994;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30118680;30315122;30334692;30334693;30410026;30524438;31154438;31217245;31530632;31679946;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32981041;32983136;33141586;33298915;33392160;33592498;33658201;33717175;33912179;33936100;33968037;34211107;34357683;34405274;34509645;3457471;3472246;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36122532;36215666;36241641;36284347;37499886;37938771;38522486;39894887;7523390;7529176;7553863;7553864;7865904;8625414;8991089;9652413;9816258;9831708", "class_list": "", "function": "(Microbial infection) In case of infection by cytomegaloviruses, it plays a central role in the export from the ER and subsequent degradation of MHC class I heavy chains via its interaction with US11 viral protein, which recognizes and associates with MHC class I heavy chains. Also participates in the degradation process of misfolded cytomegalovirus US2 protein., [UniProtKB, PubMed, PubMed]; Derlin-1 ameliorates nonalcoholic hepatic steatosis by promoting ubiquitylation and degradation of FABP1., [RefSeq, PubMed]; Derlin-1 interacts with US11, a virally encoded ER protein that specifically targets MHC class I heavy chains for export from the ER, as well as with VIMP, a novel membrane protein that recruits the p97 ATPase and its cofactor, [RefSeq, PubMed]; Derlin-1 interacts with the N-terminal domain of PNGase via its cytosolic C-terminus. PNGase distributed in two populations; ER-associated and free in the cytosol, which suggests the deglycosylation process can proceed at either site, [RefSeq, PubMed]; Derlin-1 is an important factor for the extraction of certain aberrantly folded proteins from the mammalian ER, [RefSeq, PubMed]; Derlin-1 is part of a retrotranslocation channel that is associated with both the polyubiquitination and p97-ATPase machineries at the endoplasmic reticulum membrane., [RefSeq, PubMed]; Derlin-1 promotes diet-induced non-alcoholic fatty liver disease via increasing RIPK3-mediated necroptosis., [RefSeq, PubMed]; Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins (PubMed:15215856, PubMed:33658201). Forms homotetramers which encircle a large channel traversing the endoplasmic reticulum (ER) membrane (PubMed:33658201). This allows the retrotranslocation of misfolded proteins from the ER into the cytosol where they are ubiquitinated and degraded by the proteasome (PubMed:33658201). The channel has a lateral gate within the membrane which provides direct access to membrane proteins with no need to reenter the ER lumen first (PubMed:33658201). May mediate the interaction between VCP and the misfolded protein (PubMed:15215856). Also involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation (PubMed:26565908). By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Regulation of Derlin-1-mediated degradation of NADPH oxidase partner p22(phox) by thiol modification., [RefSeq, PubMed]; The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KW41;E9PH19", "ec_number_list": [], "go_molecular_function": "GO:0005047 signal recognition particle binding;GO:0002020 protease binding;GO:0042802 identical protein binding;GO:0051117 ATPase binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0036502 Derlin-1-VIMP complex;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045184 establishment of protein localization;GO:0031398 positive regulation of protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0030968 endoplasmic reticulum unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "Q9BUN8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L5A3-1", "uniprot_id": [ { "id": "ATOSB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L5A3", "type": "external" } ], "mass": 56690.0, "length": 538, "protein_name": "Atos homolog protein B", "gene_name": "ATOSB", "organism": "Human", "refseq_name": "atos homolog protein B", "refseq_ac": [ { "id": "NP_001304920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304920", "type": "external" } ], "gene_names_uniprotkb": "ATOSB; FAM214B; KIAA1539", "gene_names_refseq": "ATOSB; FAM214B; KIAA1539", "protein_names_uniprotkb": "Atos homolog protein B", "protein_names_refseq": "atos homolog protein B; family with sequence similarity 214 member B; protein FAM214B", "tax_id": 9606, "disease": "", "pathway": " (hsa:80256)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "24715725;26375851;27862975;28832583;31844290;32157095;32502341;32983136;34405274;35051231;35580925", "class_list": "", "function": "Transcription regulator that may syncronize transcriptional and translational programs., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1AML4;B1AML5;D3DRN5;O60377;Q9BQ60;Q9HAI9;Q9P1Y9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q7L5A3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15217-1", "uniprot_id": [ { "id": "GSTA4_HUMAN", "url": "https://www.uniprot.org/uniprot/O15217", "type": "external" } ], "mass": 25704.0, "length": 222, "protein_name": "Glutathione S-transferase A4", "gene_name": "GSTA4", "organism": "Human", "refseq_name": "glutathione S-transferase A4", "refseq_ac": [ { "id": "NP_001503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001503", "type": "external" } ], "gene_names_uniprotkb": "GSTA4", "gene_names_refseq": "GSTA4-4; GSTA4; GTA4", "protein_names_uniprotkb": "Glutathione S-transferase A4; 2.5.1.18; GST class-alpha member 4; Glutathione S-transferase A4-4", "protein_names_refseq": "GST class-alpha member 4; S-(hydroxyalkyl)glutathione lyase A4; glutathione S-alkyltransferase A4; glutathione S-aralkyltransferase A4; glutathione S-aryltransferase A4; glutathione S-transferase A4-4; glutathione S-transferase A4; glutathione transferase A4-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:2941); (R-HSA-156590)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10329152;10587441;10783391;11237011;11327815;11904223;12042665;12211029;12627223;14742434;16081649;16298388;16548513;20083122;20085333;21106529;21668448;22522127;22544926;23162467;23481700;25576301;25645385;26992070;27600516;27846572;28904123;29557506;29786170;30429286;30779550;30833945;31154438;31844290;31998317;32157095;32387766;32897882;32938616;33592498;33717175;3372534;33968037;34171305;34405274;34509645;35051231;35318648;35580925;36241641;36284347;3770744;37938771;4768551;8182750;8203914;8331657;8431482;8703034;8812420;9278457;9461507;9480897;9551553;9587421;9820822;9839448", "class_list": "", "function": "Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. This isozyme has a high catalytic efficiency with 4-hydroxyalkenals such as 4-hydroxynonenal (4-HNE)., [UniProtKB, PubMed, PubMed]; Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD15;Q5T7Q8;Q6P4G1;Q9BX18;Q9H414", "ec_number_list": [ { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "5.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.2", "type": "external" }, { "id": "5.3.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.2", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.3.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.-", "type": "external" }, { "id": "1.20.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.20.4.2", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "4.4.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:4.4.1.20", "type": "external" } ], "go_molecular_function": "GO:0004364 glutathione transferase activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O15217-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4V328-1", "uniprot_id": [ { "id": "GRAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4V328", "type": "external" } ], "mass": 96006.0, "length": 841, "protein_name": "GRIP1-associated protein 1", "gene_name": "GRIPAP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "GRIPAP1; KIAA1167", "gene_names_refseq": "", "protein_names_uniprotkb": "GRIP1-associated protein 1; 30kDa C-terminus form; GRASP-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:56850)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "10908365;11237011;15897011;17081983;17322306;17761173;18220336;18669648;19415658;19651622;19690332;20068231;20098723;22223895;23186163;23481700;24029068;24715725;25576301;25645385;26992070;27600516;28228285;28657654;28832583;28834231;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30484775;30833945;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33717175;33912179;33968037;34087483;34357683;34509645;35051231;35318648;35580925;36010968;36215666;36241641;37217939;40914422", "class_list": "", "function": "Functions as a scaffold protein to facilitate MAP3K1/MEKK1-mediated activation of the JNK1 kinase by phosphorylation, possibly by bringing MAP3K1/MEKK1 and JNK1 in close proximity., [UniProtKB, PubMed]; Regulates the endosomal recycling back to the neuronal plasma membrane, possibly by connecting early and late recycling endosomal domains and promoting segregation of recycling endosomes from early endosomal membranes. Involved in the localization of recycling endosomes to dendritic spines, thereby playing a role in the maintenance of dendritic spine morphology. Required for the activity-induced AMPA receptor recycling to dendrite membranes and for long-term potentiation and synaptic plasticity (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NL78;Q3MJ75;Q4V327;Q4V330;Q5HYG1;Q6N046;Q96DH8;Q9NQ43;Q9ULQ3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0030424 axon;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0072562 blood microparticle", "go_biological_process": "GO:0015031 protein transport;GO:0099152 regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane;GO:0099158 regulation of recycling endosome localization within postsynapse;GO:1903910 negative regulation of receptor clustering", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q4V328-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPJ8-1", "uniprot_id": [ { "id": "NXT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPJ8", "type": "external" } ], "mass": 16228.0, "length": 142, "protein_name": "NTF2-related export protein 2", "gene_name": "NXT2", "organism": "Human", "refseq_name": "NTF2-related export protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001229546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229546", "type": "external" } ], "gene_names_uniprotkb": "NXT2; BM-025; DC9", "gene_names_refseq": "NXT2; P15-2", "protein_names_uniprotkb": "NTF2-related export protein 2; Protein p15-2", "protein_names_refseq": "NTF2-related export protein 2 isoform 2; NTF2-related export protein 2; protein p15-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55916)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11073998;22121020;25645385;26811146;26992070;28218747;28228285;28904123;29393594;29437277;30315122;30410026;30429286;31844290;32157095;32350084;32357974;32387766;33592498;36010968", "class_list": "", "function": "Regulator of protein export for NES-containing proteins. Also plays a role in mRNA nuclear export., [UniProtKB]; The protein encoded by this gene contains a nuclear transport factor 2 (NTF2) domain, which plays an important role in the trafficking of macromolecules, ions, and small molecules between the cytoplasm and nucleus. This protein may also have a role in mRNA nuclear export. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DUY1;Q0VAN8;Q5JYV5;Q5JYV6;Q5JYV7;Q9H8U0;Q9NQ64;Q9NRL7;Q9Y3M4;Q9Y3M5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042272 nuclear RNA export factor complex;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0044613 nuclear pore central transport channel", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9NPJ8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR84-1", "uniprot_id": [ { "id": "ZN559_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR84", "type": "external" } ], "mass": 62318.0, "length": 538, "protein_name": "Zinc finger protein 559", "gene_name": "ZNF559", "organism": "Human", "refseq_name": "zinc finger protein 559 isoform f", "refseq_ac": [ { "id": "NP_001189339", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189339", "type": "external" } ], "gene_names_uniprotkb": "ZNF559", "gene_names_refseq": "NBLA00121; ZNF559", "protein_names_uniprotkb": "Zinc finger protein 559", "protein_names_refseq": "putative protein product of Nbla00121; zinc finger protein 559 isoform f", "tax_id": 9606, "disease": "", "pathway": " (hsa:84527); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24715725;31848261;32157095;32938616;33392160;35051231;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "K7EMG6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9BR84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQA5-1", "uniprot_id": [ { "id": "TRPV5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQA5", "type": "external" } ], "mass": 82562.0, "length": 729, "protein_name": "Transient receptor potential cation channel subfamily V member 5", "gene_name": "TRPV5", "organism": "Human", "refseq_name": "transient receptor potential cation channel subfamily V member 5", "refseq_ac": [ { "id": "NP_062815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062815", "type": "external" } ], "gene_names_uniprotkb": "TRPV5; ECAC1", "gene_names_refseq": "CAT2; ECAC1; OTRPC3; TRPV5", "protein_names_uniprotkb": "Transient receptor potential cation channel subfamily V member 5; CaT2; Calcium transport protein 2; ECaC1; ECaC; Epithelial calcium channel 1; OTRPC3; Osm-9-like TRP channel 3; TrpV5", "protein_names_refseq": "calcium transport protein 2; calcium transporter 2; epithelial calcium channel 1; osm-9-like TRP channel 3; transient receptor potential cation channel subfamily V member 5", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714)", "pathway": " (hsa:56302); (R-HSA-3295583)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10945469;11050376;11226139;11237011;11243859;11301059;11549322;11765215;12015988;1422598;14634208;17006539;18768590;19157541;20025796;20716668;23024298;25389312;25765567;25855297;31428848;31471161;36088585;37198647;38694510", "class_list": "", "function": "Alterations in the microenvironment and the effects produced of TRPV5 in osteoporosis. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Association of TRPV5 gene polymorphism with calcium urolithiasis: a case-control study from West Bengal, India., [RefSeq, PubMed]; Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions., [RefSeq, PubMed]; Constitutively active calcium selective cation channel thought to be involved in Ca(2+) reabsorption in kidney and intestine (PubMed:11549322, PubMed:18768590). Required for normal Ca(2+) reabsorption in the kidney distal convoluted tubules (By similarity). The channel is activated by low internal calcium level and the current exhibits an inward rectification (PubMed:11549322, PubMed:18768590). A Ca(2+)-dependent feedback regulation includes fast channel inactivation and slow current decay (By similarity). Heteromeric assembly with TRPV6 seems to modify channel properties. TRPV5-TRPV6 heteromultimeric concatemers exhibit voltage-dependent gating (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Functional properties of the epithelial Ca2+ channel, ECaC. Review article, [RefSeq, PubMed]; TRPV5 in renal tubular calcium handling and its potential relevance for nephrolithiasis. Review article, [RefSeq, PubMed]; The ion channel TRPV5 regulates B-cell signaling and activation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the transient receptor family and the TrpV subfamily. The calcium-selective channel encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A6YY98;A4D2H7;E9PBZ6;Q8N4C1;Q8NDW5;Q8NDX7;Q8NDX8;Q96PM6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005516 calmodulin binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0034704 calcium channel complex", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006816 calcium ion transport;GO:0035809 regulation of urine volume;GO:0070588 calcium ion transmembrane transport;GO:0060402 calcium ion transport into cytosol", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9NQA5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NN90-1", "uniprot_id": [ { "id": "CB081_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NN90", "type": "external" } ], "mass": 63239.0, "length": 582, "protein_name": "Uncharacterized protein C2orf81", "gene_name": "C2orf81", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "C2orf81", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein C2orf81", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:388963)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;29557506;30410026;31844290;39894887", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WXZ4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A6NN90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5S3-1", "uniprot_id": [ { "id": "CMIP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5S3", "type": "external" } ], "mass": 32142.0, "length": 287, "protein_name": "Ciliary microtubule inner protein 6", "gene_name": "CIMIP6", "organism": "Human", "refseq_name": "ciliary microtubule inner protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001093866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093866", "type": "external" } ], "gene_names_uniprotkb": "CIMIP6; C2orf73", "gene_names_refseq": "C2orf73; CIMIP6", "protein_names_uniprotkb": "Ciliary microtubule inner protein 6", "protein_names_refseq": "ciliary microtubule inner protein 6 isoform 1; uncharacterized protein C2orf73", "tax_id": 9606, "disease": "", "pathway": " (hsa:129852)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;38538594", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AV79;A0AV81;Q8N7V4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N5S3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUJ4-1", "uniprot_id": [ { "id": "CC062_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUJ4", "type": "external" } ], "mass": 30194.0, "length": 267, "protein_name": "Uncharacterized protein C3orf62", "gene_name": "C3orf62", "organism": "Human", "refseq_name": "uncharacterized protein C3orf62", "refseq_ac": [ { "id": "NP_940964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940964", "type": "external" } ], "gene_names_uniprotkb": "C3orf62", "gene_names_refseq": "C3orf62; MAPS", "protein_names_uniprotkb": "Uncharacterized protein C3orf62", "protein_names_refseq": "male pachynema-specific protein; uncharacterized protein C3orf62", "tax_id": 9606, "disease": "", "pathway": " (hsa:375341)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;29242379;31930642;33091337", "class_list": "", "function": "Essential for normal spermatogenesis and male fertility., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6P7E9;Q7Z3X6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6ZUJ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNP5-1", "uniprot_id": [ { "id": "CC169_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNP5", "type": "external" } ], "mass": 25253.0, "length": 214, "protein_name": "Coiled-coil domain-containing protein 169", "gene_name": "CCDC169", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 169 isoform a", "refseq_ac": [ { "id": "NP_001138453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138453", "type": "external" } ], "gene_names_uniprotkb": "CCDC169; C13orf38", "gene_names_refseq": "C13orf38; CCDC169", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 169", "protein_names_refseq": "RP11-251J8.1; coiled-coil domain-containing protein 169 isoform a; coiled-coil domain-containing protein 169", "tax_id": 9606, "disease": "", "pathway": " (hsa:728591)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;25418920;29242379;29331515;29557506;30524438;33592498;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NC13;A6NCT2;B7ZW45;B7ZW49;B9EJF2;Q9H1T4;Q9H1T5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NNP5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3S7-1", "uniprot_id": [ { "id": "CA2D4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3S7", "type": "external" } ], "mass": 127938.0, "length": 1137, "protein_name": "Voltage-dependent calcium channel subunit alpha-2/delta-4", "gene_name": "CACNA2D4", "organism": "Human", "refseq_name": "voltage-dependent calcium channel subunit alpha-2/delta-4", "refseq_ac": [ { "id": "NP_758952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_758952", "type": "external" } ], "gene_names_uniprotkb": "CACNA2D4", "gene_names_refseq": "CACNA2D4; RCD4", "protein_names_uniprotkb": "Voltage-dependent calcium channel subunit alpha-2/delta-4; Voltage-gated calcium channel subunit alpha-2/delta-4", "protein_names_refseq": "alpha2delta-4; calcium channel, voltage-dependent, alpha 2/delta subunit 4; voltage-dependent calcium channel subunit alpha-2/delta-4; voltage-gated calcium channel alpha(2)delta-4 subunit; voltage-gated calcium channel subunit alpha-2/delta-4", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); retinal cone dystrophy 4 (Disease Ontology:DOID:0081023)", "pathway": " (hsa:93589)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;12181424;17033974;22488967;23481700;26560832;26992070;28726569;28832583;30779550;31154438;31834350;32387766;32938616;33936100;35051231;35580925;38253038", "class_list": "", "function": "A rare, partial deletion of 35.7 kb in CACNA2D4 in two unrelated late onset bipolar I patients and in one control individual, were identified., [RefSeq, PubMed]; Calcium channel alpha(2)delta-4 subunit has limited distribution in special cell types of the pituitary, adrenal gland, colon, and fetal liver., [RefSeq, PubMed]; The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel., [UniProtKB, PubMed]; This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; This report describes a distinctive ERG phenotype, predominantly involving the cone pathways, in 2 unrelated patients from different ethnic backgrounds with homozygous mutations in CACNA2D4 and normal retinal imaging, [RefSeq, PubMed]; We find that increasing the expression of Cav at the synaptic membrane is an evolutionarily conserved function of Cacna2d4b. Yet, since both paralogs participate in cone synaptic transmission, we propose partial subfunctionalization in zebrafish. Similar to human patients, our double KO zebrafish model shows mild cone dysfunction, which was not associated with signs of retinal degeneration., [RefSeq, PubMed]; We have confirmed the TRPM1 36,445 bp deletion is a founder mutation in the Ashkenazi-Jewish (AJ) population with a carrier rate of 1 in 50. We have also confirmed the 35,741 bp deletion in the CACNA2D4 gene is a founder mutation in the AJ population with a carrier rate of 1 in 56., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z3S8;Q86XZ5;Q8IZS9", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005245 voltage-gated calcium channel activity;GO:0005262 calcium channel activity", "go_cellular_component": "GO:0005891 voltage-gated calcium channel complex;GO:0016020 membrane;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0070588 calcium ion transmembrane transport;GO:0050908 detection of light stimulus involved in visual perception;GO:0006816 calcium ion transport", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q7Z3S7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV48-1", "uniprot_id": [ { "id": "CC107_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV48", "type": "external" } ], "mass": 30509.0, "length": 283, "protein_name": "Coiled-coil domain-containing protein 107", "gene_name": "CCDC107", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 107 isoform B precursor", "refseq_ac": [ { "id": "NP_001182129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182129", "type": "external" } ], "gene_names_uniprotkb": "CCDC107; PSEC0222", "gene_names_refseq": "CCDC107; PSEC0222", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 107", "protein_names_refseq": "coiled-coil domain-containing protein 107 isoform B precursor; coiled-coil domain-containing protein 107", "tax_id": 9606, "disease": "", "pathway": " (hsa:203260)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;25576301;26154972;26375851;26992070;27846572;27862975;28228285;28832583;28904123;29242379;29508533;29557506;29632711;29786170;30315122;30410026;30429286;31154438;31217245;31844290;31848261;32157095;32387766;32488085;32897882;32938616;32983136;33717175;34171305;34211107;34669559;35051231;35580925;36010968;37938771", "class_list": "", "function": "Differential expression analysis of CCDC107 and RMRP lncRNA as potential biomarkers in colorectal cancer diagnosis., [RefSeq, PubMed]; This gene encodes a membrane protein which contains a coiled-coil domain in the central region. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6XND6;Q5T4R5;Q5T4R8;Q5T4R9;Q86VB6;Q8N2E4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8WV48-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NI56-1", "uniprot_id": [ { "id": "CC154_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NI56", "type": "external" } ], "mass": 75408.0, "length": 667, "protein_name": "Coiled-coil domain-containing protein 154", "gene_name": "CCDC154", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 154", "refseq_ac": [ { "id": "NP_001137452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137452", "type": "external" } ], "gene_names_uniprotkb": "CCDC154; C16orf29", "gene_names_refseq": "C16orf29; CCDC154", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 154", "protein_names_refseq": "coiled-coil domain-containing protein 154", "tax_id": 9606, "disease": "autosomal recessive osteopetrosis 1 (Disease Ontology:DOID:0110942)", "pathway": " (hsa:645811)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;22895184;27600516;30779550;37863352;39894887", "class_list": "", "function": "CCDC154 is a novel osteopetrosis-related gene involved in cell cycle regulation and tumor suppression growth., [RefSeq, PubMed]; Coiled-coil domain-containing 154 promotes colorectal cancer proliferation and metastasis via interacting with minichromosome maintenance complex component 2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G9JV18", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome", "go_biological_process": "GO:0035630 bone mineralization involved in bone maturation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NI56-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V15-1", "uniprot_id": [ { "id": "CASZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V15", "type": "external" } ], "mass": 190069.0, "length": 1759, "protein_name": "Zinc finger protein castor homolog 1", "gene_name": "CASZ1", "organism": "Human", "refseq_name": "zinc finger protein castor homolog 1 isoform a", "refseq_ac": [ { "id": "NP_001073312", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073312", "type": "external" } ], "gene_names_uniprotkb": "CASZ1; CST; SRG; ZNF693", "gene_names_refseq": "CAS11; CASZ1; CST; SRG; ZNF693; dJ734G22.1", "protein_names_uniprotkb": "Zinc finger protein castor homolog 1; Castor-related protein; Putative survival-related protein; Zinc finger protein 693", "protein_names_refseq": "castor homolog 1, zinc finger; castor-related protein; survival-related; zinc finger protein 693; zinc finger protein castor homolog 1 isoform a; zinc finger protein castor homolog 1", "tax_id": 9606, "disease": "chromosome 1p36 deletion syndrome (Disease Ontology:DOID:0060410)", "pathway": " (hsa:54897)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;16322216;16631614;20068231;20479155;23639441;24715725;25576301;25645385;26992070;27693370;27920218;28832583;28834231;28904123;29242379;29393594;29485866;29557506;29786170;30379171;30429286;31217245;31844290;32157095;32357974;32387766;32502341;32574038;33592498;33912179;34185709;34561969;35051231;35132862;35513511;35580925;36010968;36284347;38053207;38058200;38253038;38458428;39531497", "class_list": "", "function": "CASZ1 Is Essential for Skin Epidermal Terminal Differentiation., [RefSeq, PubMed]; CASZ1 is expressed in a number of human tumors and localizes to a chromosomal region frequently lost in tumors of neuroectodermal origin., [RefSeq, PubMed]; CASZ1 upregulates PI3K-AKT-mTOR signaling and promotes T-cell acute lymphoblastic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Role of the CASZ1 transcription factor in tissue development and disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger transcription factor. The encoded protein may function as a tumor suppressor, and single nucleotide polymorphisms in this gene are associated with blood pressure variation. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]; Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q078S9;Q2EN02;Q5T9S1;Q6ZNM8;Q8WX49;Q8WX50;Q9BT16;Q9NXC6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045664 regulation of neuron differentiation;GO:0045893 positive regulation of DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q86V15-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HH6-1", "uniprot_id": [ { "id": "TMM19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HH6", "type": "external" } ], "mass": 36392.0, "length": 336, "protein_name": "Transmembrane protein 19", "gene_name": "TMEM19", "organism": "Human", "refseq_name": "transmembrane protein 19", "refseq_ac": [ { "id": "NP_060749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060749", "type": "external" } ], "gene_names_uniprotkb": "TMEM19", "gene_names_refseq": "TMEM19", "protein_names_uniprotkb": "Transmembrane protein 19", "protein_names_refseq": "transmembrane protein 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:55266)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;24714562;26154972;26992070;28218747;28904123;29437277;29557506;30429286;31217245;31844290;32157095;32502341;32938616;33298915;33717175;33936100;35580925;36241641", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDL2;Q53FY3;Q9NV41", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q96HH6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXL6-1", "uniprot_id": [ { "id": "CAR14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXL6", "type": "external" } ], "mass": 113270.0, "length": 1004, "protein_name": "Caspase recruitment domain-containing protein 14", "gene_name": "CARD14", "organism": "Human", "refseq_name": "caspase recruitment domain-containing protein 14 isoform 3", "refseq_ac": [ { "id": "NP_001244899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244899", "type": "external" } ], "gene_names_uniprotkb": "CARD14; CARMA2", "gene_names_refseq": "BIMP2; CARD14; CARMA2; PRP; PSORS2; PSS1", "protein_names_uniprotkb": "Caspase recruitment domain-containing protein 14; CARD-containing MAGUK protein 2; Carma 2", "protein_names_refseq": "CARD-containing MAGUK protein 2; bcl10-interacting maguk protein 2; caspase recruitment domain-containing protein 14 isoform 3; caspase recruitment domain-containing protein 14", "tax_id": 9606, "disease": "psoriasis 2 (Disease Ontology:DOID:0080475); pityriasis rubra pilaris (Disease Ontology:DOID:9212)", "pathway": " (hsa:79092)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;11278692;11356195;12483297;18220336;21302310;22521418;22521419;22703878;22898188;23481700;26358359;26768311;27071417;27113748;27760266;28904123;29242379;29557506;30315122;30379171;30484775;31848261;32387766;32983136;33141586;33298915;34509645;35051231;36215666;36221432;36331855;36724903;38797267;39110589", "class_list": "", "function": "A novel mutation in a CARD14-associated papulosquamous eruption., [RefSeq, PubMed]; Acts as a scaffolding protein that can activate the inflammatory transcription factor NF-kappa-B and p38/JNK MAP kinase signaling pathways. Forms a signaling complex with BCL10 and MALT1, and activates MALT1 proteolytic activity and inflammatory gene expression. MALT1 is indispensable for CARD14-induced activation of NF-kappa-B and p38/JNK MAP kinases (PubMed:11278692, PubMed:21302310, PubMed:27071417, PubMed:27113748). May play a role in signaling mediated by TRAF2, TRAF3 and TRAF6 and protects cells against apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Association between CARD14 gene polymorphisms and psoriasis vulgaris in Hainan Han population based on exon sequencing: A case-control study., [RefSeq, PubMed]; Chromosome 17q25 harbors a susceptibility locus for psoriasis. Non-parametric linkage analysis revealed a linkage peak lying close to a novel cluster of genes from the immunoglobulin (Ig) superfamily., [RefSeq, PubMed]; Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis., [RefSeq, PubMed]; Not able to activate the inflammatory transcription factor NF-kappa-B and may function as a dominant negative regulator (PubMed:21302310, PubMed:26358359)., [UniProtKB, PubMed, PubMed]; Polo-like kinase 1 (PLK1) is a novel CARD14-binding protein in keratinocytes., [RefSeq, PubMed]; Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease., [RefSeq, PubMed]; This gene encodes a caspase recruitment domain-containing protein that is a member of the membrane-associated guanylate kinase (MAGUK) family of proteins. Members of this protein family are scaffold proteins that are involved in a diverse array of cellular processes including cellular adhesion, signal transduction and cell polarity control. This protein has been shown to specifically interact with BCL10, a protein known to function as a positive regulator of cell apoptosis and NF-kappaB activation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B8QQJ3;Q9BVB5", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity;GO:0050700 CARD domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0007165 signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0050776 regulation of immune response", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9BXL6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13994-1", "uniprot_id": [ { "id": "YJU2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P13994", "type": "external" } ], "mass": 44802.0, "length": 396, "protein_name": "Probable splicing factor YJU2B", "gene_name": "YJU2B", "organism": "Human", "refseq_name": "probable splicing factor YJU2B isoform a", "refseq_ac": [ { "id": "NP_001307490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307490", "type": "external" } ], "gene_names_uniprotkb": "YJU2B; CCDC130; SB115", "gene_names_refseq": "CCDC130; YJU2B", "protein_names_uniprotkb": "Probable splicing factor YJU2B; Coiled-coil domain-containing protein 130", "protein_names_refseq": "9 kDa protein; coiled-coil domain containing 130; coiled-coil domain-containing protein 130; probable splicing factor YJU2B isoform a; probable splicing factor YJU2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:81576)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;17081983;21406692;23186163;24190977;24715725;25576301;25645385;26992070;28228285;28832583;29242379;29493099;30429286;30524438;30779550;31154438;31530632;31844290;31848261;3203696;32157095;32161166;32387766;32488085;32897882;33537174;33592498;33968037;33981976;34509645;35051231;35318648;35580925;36010968;37938771", "class_list": "", "function": "May be involved in mRNA splicing., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BQ72", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0071014 post-mRNA release spliceosomal complex;GO:0005684 U2-type spliceosomal complex", "go_biological_process": "GO:0009615 response to virus;GO:0045292 mRNA cis splicing, via spliceosome;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P13994-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13938-1", "uniprot_id": [ { "id": "CAYP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13938", "type": "external" } ], "mass": 30240.0, "length": 275, "protein_name": "Calcyphosin", "gene_name": "CAPS", "organism": "Human", "refseq_name": "calcyphosin isoform a", "refseq_ac": [ { "id": "NP_004049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004049", "type": "external" } ], "gene_names_uniprotkb": "CAPS", "gene_names_refseq": "CAPS1; CAPS", "protein_names_uniprotkb": "Calcyphosin; Calcyphosine", "protein_names_refseq": "calcyphosin isoform a; calcyphosine 1; epididymis secretory sperm binding protein; thyroid protein p24", "tax_id": 9606, "disease": "", "pathway": " (hsa:828)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;18729184;18775726;19275752;20468064;28397838;29485866;29557506;30339840;31848261;32157095;32938616;34370292;35580925;38253038;9224948", "class_list": "", "function": "Calcium-binding protein. May play a role in cellular signaling events (Potential)., [UniProtKB]; Calcyphosine promotes the proliferation of glioma cells and serves as a potential therapeutic target., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results demonstrated the ubiquitous overexpressions of E-FABP and CAPS in EC and the correlations to the clinicopathologic parameters. CAPS might be a potential prognostic factor for survival in patients with EC, [RefSeq, PubMed]; The calcyphosine crystal diffracted to 2.8 A and belonged to space group P2(1)2(1)2, with the unit cell parameters a=70.39 A, b=132.02 A, c=46.20 A., [RefSeq, PubMed]; The results indicated that the autosomal recessive homozygous mutation, p.Leu127Trpfs, in CAPS might be a maternal effect causative mutation of RPL pathogenesis., [RefSeq, PubMed]; This gene encodes a calcium-binding protein, which may play a role in the regulation of ion transport. A similar protein was first described as a potentially important regulatory protein in the dog thyroid and was termed as R2D5 antigen in rabbit. Alternative splicing of this gene generates two transcript variants. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0X1KG78;K7EL21;Q3MJA7;Q8NF12;Q8WUZ3", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0031982 vesicle", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q13938-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPZ5-1", "uniprot_id": [ { "id": "B3GA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPZ5", "type": "external" } ], "mass": 36919.0, "length": 323, "protein_name": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2", "gene_name": "B3GAT2", "organism": "Human", "refseq_name": "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 precursor", "refseq_ac": [ { "id": "NP_542780", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542780", "type": "external" } ], "gene_names_uniprotkb": "B3GAT2; GLCATS; KIAA1963", "gene_names_refseq": "B3GAT2; GLCATS", "protein_names_uniprotkb": "Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2; 2.4.1.135; Beta-1,3-glucuronyltransferase 2; GlcAT-D; GlcAT-S; Glucuronosyltransferase S; UDP-glucuronosyltransferase S", "protein_names_refseq": "UDP-glucuronosyltransferase S; UDP-glucuronyltransferase S; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 precursor; galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2; glcAT-D; glucuronosyltransferase S; uridine diphosphate glucuronic acid:acceptor glucuronosyltransferase", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419); Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:135152); (R-HSA-1971475)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;10473568;10506123;10842173;11099377;11237011;11551958;11877387;12522689;14993226;15294915;15461586;16897771;17194707;19473117;20950796;22810237;23656592;24425863;25521717;26545406;28011674;29557506;32161166;33936100;9506957;9892646", "class_list": "glycogene;glycosyltransferase", "function": "B3GAT2 and ZNF793 are hypermethylated in BE, and the methylation status of these genes can be used to detect BE in tissue samples., [RefSeq, PubMed]; Human GlcAT-S gene-located on human chromosome 6 encodes a protein involved in biosynthesis of HNK-1 carbohydrate epitope on glycoproteins., [RefSeq, PubMed]; Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins., [UniProtKB, UniProtKB]; Residues interacting with UDP molecule, which is a part of the donor substrate, are highly conserved between GlcAT-P and GlcAT-S, [RefSeq, PubMed]; Results suggest that effects on biosynthesis of the neuronal epitope HNK-1, through common B3GAT2 variation, could increase the risk of SCZ, possibly by decreasing cortical area. GeneRIF: Observational study and meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]; The study identified a region on chromosome 6 comprising the genes SMAP1, B3GAT2, and RIMS1 as novel susceptibility locus for pediatric venous thromboembolism., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 483, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5JS09;Q8TF38;Q96NK4", "ec_number_list": [ { "id": "2.4.1.135", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.135", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0016051 carbohydrate biosynthetic process;GO:0005975 carbohydrate metabolic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 21, "hit_score": 3.0, "record_id": "Q9NPZ5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD86-1", "uniprot_id": [ { "id": "CALL6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD86", "type": "external" } ], "mass": 20690.0, "length": 181, "protein_name": "Calmodulin-like protein 6", "gene_name": "CALML6", "organism": "Human", "refseq_name": "calmodulin-like protein 6 isoform 1", "refseq_ac": [ { "id": "NP_619650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619650", "type": "external" } ], "gene_names_uniprotkb": "CALML6; CAGLP; CALGP", "gene_names_refseq": "CAGLP; CALML6", "protein_names_uniprotkb": "Calmodulin-like protein 6; Calglandulin-like protein", "protein_names_refseq": "EF-hand protein; calglandulin-like protein; calmodulin-like protein 6 isoform 1; calmodulin-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:163688)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;15621662;30699354;35580925;38745046", "class_list": "", "function": "A novel human gene, CAGLP (calglandulin-like protein) was predicted, and subsequently isolated from human skeleton muscle, [RefSeq, PubMed]; EP4-induced mitochondrial localization and cell migration mediated by CALML6 in human oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The EF-hand protein calmodulin-like 6 (CALML6) directly bound to the phosphorylated serine-rich (SR) region of IRF3 and impaired its dimerization and nuclear translocation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2A2M3;Q6Q2C4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0016604 nuclear body", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8TD86-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKI2-1", "uniprot_id": [ { "id": "BORG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKI2", "type": "external" } ], "mass": 27678.0, "length": 254, "protein_name": "Cdc42 effector protein 3", "gene_name": "CDC42EP3", "organism": "Human", "refseq_name": "cdc42 effector protein 3", "refseq_ac": [ { "id": "NP_001257365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257365", "type": "external" } ], "gene_names_uniprotkb": "CDC42EP3; BORG2; CEP3", "gene_names_refseq": "BORG2; CDC42EP3; CEP3; UB1", "protein_names_uniprotkb": "Cdc42 effector protein 3; Binder of Rho GTPases 2; MSE55-related Cdc42-binding protein", "protein_names_refseq": "CDC42 effector protein (Rho GTPase binding) 3; CRIB-containing BORG2 protein; MSE55-related Cdc42-binding protein; MSE55-related protein; binder of Rho GTPases 2; cdc42 effector protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10602); (R-HSA-5687128); (R-HSA-9013148); (R-HSA-9013406)", "pathway_count": 4, "publication_count": 318, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10470034;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;10967094;10975528;11007481;11035016;11058585;11085924;11149925;11185749;11230166;11237011;11306516;11373293;11396949;11431473;11432776;11584266;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12351724;12432077;12456725;12464619;12531887;12546821;12547822;12650940;12773384;12808096;12857875;12860998;12877655;12907671;12915405;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15226418;15260990;15302923;15304341;15342493;15345747;15485661;15538386;15546864;15577943;15601624;15611138;15728722;15850391;15897194;16112081;16116428;16184169;16217026;16360641;16371649;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16968698;16971392;16973613;17064668;17077126;17081983;17145773;17161475;17196961;17214551;17244649;17254968;17395884;17599059;17702745;17728103;17765681;17804252;17932950;17947239;17976533;18031682;18045877;18056264;18162290;18212344;18218625;18235225;18248330;18363964;18426980;18593949;18644862;18653540;18720373;18786931;18835169;18838382;18929667;19166925;19258391;19473979;19513348;19593530;19605563;19713215;19934221;20236090;20536836;20543837;20679435;20734105;20849292;21148482;21177870;21317288;21329875;21329882;21372320;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22267219;22279049;22298643;22424782;22461490;22505454;22508986;22571869;22608513;22800433;22970203;23069990;23186163;23200924;23255595;23406282;23434736;23481700;23572525;23718289;23878308;24086303;24259668;24297911;24309468;24335996;24352656;24355937;24584464;24585635;24715725;24933155;24996924;25024229;25211221;25339975;25576301;25678704;25704760;25721503;25795300;25802875;25862245;25963737;26129894;26154972;26299518;26375851;26529257;26598554;26887924;26992070;27096001;27145964;27216196;27481945;27555588;27798618;28028151;28196833;28228285;28825699;28832583;28860633;28904123;29242379;29393594;29485866;29557506;29632711;29786170;30061681;30315122;30429286;30484775;30853411;31092671;31154438;31530632;31844290;31848261;31871319;31937595;32157095;32161166;32203420;32387766;32488085;32739212;32938616;32983136;33141586;33392160;33592498;33691108;33912179;33968037;34111280;34211107;34932366;34998812;35051231;35318648;35365622;35561310;35580925;36010968;36241641;36284347;37938771;38253038;7479768;7512369;7559638;7673236;7721814;7753201;7799959;8021274;8107774;8537347;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9268338;9305890;9405671;9438849;9490638;9497316;9535855;9628874;9659915;9670022;9747882;9829970;9843499;9846874;9857026", "class_list": "", "function": "CDC42EP3 is a key promoter involved in the development and progression of gastric cancer., [RefSeq, PubMed]; CDC42EP3 promotes glioma progression via regulation of CCND1. Publication Status: Online-Only, [RefSeq, PubMed]; Deduction of CDC42EP3 suppress development and progression of osteosarcoma., [RefSeq, PubMed]; Overactivated Cdc42 acts through Cdc42EP3/Borg2 and NCK to trigger DNA damage response signaling and sensitize cells to DNA-damaging agents., [RefSeq, PubMed]; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts., [UniProtKB, PubMed, PubMed]; This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is involved in actin cytoskeleton re-organization during cell shape changes, including pseudopodia formation. A pseudogene of this gene is found on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R8S0;O95353;Q9UQJ0", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0005519 cytoskeletal regulatory protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007165 signal transduction;GO:0007266 Rho protein signal transduction;GO:0008360 regulation of cell shape;GO:0031274 positive regulation of pseudopodium assembly;GO:0030838 positive regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 32.4, "record_id": "Q9UKI2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYM9-1", "uniprot_id": [ { "id": "BET1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYM9", "type": "external" } ], "mass": 12388.0, "length": 111, "protein_name": "BET1-like protein", "gene_name": "BET1L", "organism": "Human", "refseq_name": "BET1-like protein isoform 1", "refseq_ac": [ { "id": "NP_001092257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092257", "type": "external" } ], "gene_names_uniprotkb": "BET1L; GS15", "gene_names_refseq": "BET1L1; BET1L; GOLIM3; GS15; HSPC197", "protein_names_uniprotkb": "BET1-like protein; GOS-15; GS15; Golgi SNARE with a size of 15 kDa; Vesicle transport protein GOS15", "protein_names_refseq": "BET1-like protein isoform 1; BET1-like protein; GOS-15; blocked early in transport 1 homolog-like; golgi SNARE 15 kDa protein; golgi SNARE with a size of 15 kDa; golgi integral membrane protein 3; vesicle transport protein GOS15", "tax_id": 9606, "disease": "uterine fibroid (Disease Ontology:DOID:13223); endometrial adenocarcinoma (Disease Ontology:DOID:2870)", "pathway": " (hsa:51272); (R-HSA-6807878); (R-HSA-6811438)", "pathway_count": 3, "publication_count": 154, "publication_id_list": "10052452;10189370;10318838;10445031;10559959;10652308;10652516;10679020;10761932;10903204;10921873;11035033;11172815;11237011;11285137;11306556;11461920;11689559;11703931;11718716;11726511;11748249;12011112;12047556;12070132;12383348;12388752;12429822;12634853;14654841;14742712;15037235;15504911;15616190;15632110;15718469;15728195;15758030;15813748;15878873;16030262;1631136;16633337;16723730;1680566;16912714;16926190;16940185;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;18086915;18182008;18256213;18283113;18451304;18524849;18578522;18669648;18809720;1898986;19015319;19109418;19164740;19296914;19413330;19536132;1957170;19631211;19651622;19664994;19664995;19690332;19715559;19758564;20068231;20163571;20357002;20427317;20637885;20874812;21219331;21406692;21689688;21807881;21844168;22013193;22094269;22188167;22304919;23091056;23186163;23239882;23378023;23462996;23839779;23936529;23940353;24119662;24806965;25436559;25492864;25502872;25708460;29242379;31217245;31275455;31844290;32350084;32387766;32938616;33298915;33592498;33968037;34310943;34357683;34711829;35251023;35477381;37115853;7691276;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8945478;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9476900;9490716;9510256;9653114;9671725;9707577;9751720;9915833;9990005", "class_list": "", "function": "BET1L rs2280543 polymorphisms are associated with an increased risk of intracranial aneurysm. Publication Status: Online-Only, [RefSeq, PubMed]; Data suggest that GS15 exists in a distinct SNARE complex that contains syntaxin5, GS28, and Ykt6, and may be involved in both ER-to-Golgi and intra-Golgi transport., [RefSeq, PubMed]; Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification., [RefSeq, PubMed]; Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS., [RefSeq, PubMed]; Vesicle SNARE required for targeting and fusion of retrograde transport vesicles with the Golgi complex. Required for the integrity of the Golgi complex (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KMY0", "ec_number_list": [], "go_molecular_function": "GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0042147 retrograde transport, endosome to Golgi;GO:2000156 regulation of retrograde vesicle-mediated transport, Golgi to ER", "synthesized_glycan_count": 0, "hit_score": 15.5, "record_id": "Q9NYM9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBR1-1", "uniprot_id": [ { "id": "BUP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBR1", "type": "external" } ], "mass": 43166.0, "length": 384, "protein_name": "Beta-ureidopropionase", "gene_name": "UPB1", "organism": "Human", "refseq_name": "beta-ureidopropionase", "refseq_ac": [ { "id": "NP_057411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057411", "type": "external" } ], "gene_names_uniprotkb": "UPB1; BUP1", "gene_names_refseq": "BUP1; UPB1", "protein_names_uniprotkb": "Beta-ureidopropionase; 3.5.1.6; BUP-1; Beta-alanine synthase; N-carbamoyl-beta-alanine amidohydrolase", "protein_names_refseq": "beta-alanine synthase; beta-ureidopropionase; n-carbamoyl-beta-alanine amidohydrolase; ureidopropionase, beta", "tax_id": 9606, "disease": "beta-ureidopropionase deficiency (MONDO:MONDO:0013164)", "pathway": " (hsa:51733); (R-HSA-73621)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10364222;10415095;10542323;10681516;10899995;10989446;11083867;11133996;11237011;11508704;12124385;12352955;12849978;12947102;14725767;15385443;1590793;16377327;18477386;19291308;19664994;20018850;2129526;2157703;22525402;2344353;23481700;24526388;24714562;25576301;2826576;29557506;29976570;30512155;31844290;32502341;32983136;33717175;34561969;35051231;35151535;35926322;37859333;38136634;7284378;7488099;8083224;9718352", "class_list": "", "function": "An altered homeostasis of beta-aminoisobutyric acid and/or increased oxidative stress might contribute to some of the clinical abnormalities encountered in patients with a beta-ureidopropionase deficiency., [RefSeq, PubMed]; Beta-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity., [RefSeq, PubMed]; Catalyzes a late step in pyrimidine degradation (PubMed:22525402, PubMed:24526388). Converts N-carbamoyl-beta-alanine (3-ureidopropanoate) into beta-alanine, ammonia and carbon dioxide (PubMed:10415095, PubMed:10542323, PubMed:11508704, PubMed:22525402, PubMed:24526388, PubMed:29976570). Likewise, converts N-carbamoyl-beta-aminoisobutyrate (3-ureidoisobutyrate) into beta-aminoisobutyrate, ammonia and carbon dioxide (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Low UPB1 Level Correlates With Poor Prognosis in Lung Adenocarcinoma., [RefSeq, PubMed]; The Allosteric Regulation of Beta-Ureidopropionase Depends on Fine-Tuned Stability of Active-Site Loops and Subunit Interfaces. Publication Status: Online-Only, [RefSeq, PubMed]; The compound heterozygous mutations of the UPB1 gene probably underlie the beta-ureidopropinoase deficiency in this fabily pedigree., [RefSeq, PubMed]; The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain., [RefSeq, PubMed]; This gene encodes a protein that belongs to the CN hydrolase family. Beta-ureidopropionase catalyzes the last step in the pyrimidine degradation pathway. The pyrimidine bases uracil and thymine are degraded via the consecutive action of dihydropyrimidine dehydrogenase (DHPDH), dihydropyrimidinase (DHP) and beta-ureidopropionase (UP) to beta-alanine and beta-aminoisobutyric acid, respectively. UP deficiencies are associated with N-carbamyl-beta-amino aciduria and may lead to abnormalities in neurological activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A3KMF8;Q9UIR3", "ec_number_list": [ { "id": "3.5.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.6", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0003837 beta-ureidopropionase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001701 in utero embryonic development;GO:0001889 liver development;GO:0051260 protein homooligomerization;GO:0051289 protein homotetramerization;GO:0046135 pyrimidine nucleoside catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9UBR1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAY6-1", "uniprot_id": [ { "id": "BCDO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAY6", "type": "external" } ], "mass": 62637.0, "length": 547, "protein_name": "Beta,beta-carotene 15,15'-dioxygenase", "gene_name": "BCO1", "organism": "Human", "refseq_name": "beta,beta-carotene 15,15'-dioxygenase", "refseq_ac": [ { "id": "NP_059125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059125", "type": "external" } ], "gene_names_uniprotkb": "BCO1; BCDO1; BCDO; BCMO1", "gene_names_refseq": "BCDO1; BCDO; BCMO1; BCMO; BCO1; BCO", "protein_names_uniprotkb": "Beta,beta-carotene 15,15'-dioxygenase; 1.13.11.63; Beta-carotene dioxygenase 1; Beta-carotene oxygenase 1", "protein_names_refseq": "beta,beta-carotene 15,15'-dioxygenase; beta,beta-carotene 15,15'-monooxygenase; beta-carotene 15, 15'-dioxygenase 1; beta-carotene 15,15'-monooxygenase 1; beta-carotene dioxygenase 1", "tax_id": 9606, "disease": "carotenemia (Disease Ontology:DOID:9969)", "pathway": " (hsa:53630); (R-HSA-975634)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10052934;10769148;11060341;11181758;11237011;11274389;11401432;1279089;15358783;1542003;15583000;16200213;16504037;16939223;17525477;17644776;17951468;18087047;18295589;18460466;18507396;1856611;19014918;19139408;21106934;21851338;24106281;24668807;25892735;2793848;29557506;30379171;32560166;32983136;34171305;34481002;35051231;35254053;35461060;35994463;36233117;3714052;3942763;4345202;5057882;5675424;6420172;6961410;7683668;8017323;8384721;8728311;9888420;9920938;9925661", "class_list": "", "function": "ALDH2, ADCY3 and BCMO1 polymorphisms and lifestyle-induced traits are jointly associated with CAD risk in Chinese Han people., [RefSeq, PubMed]; Association of MARC1, ADCY5, and BCO1 Variants with the Lipid Profile, Suggests an Additive Effect for Hypertriglyceridemia in Mexican Adult Men. Publication Status: Online-Only, [RefSeq, PubMed]; Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study. Publication Status: Online-Only, [RefSeq, PubMed]; Common variant rs6564851 near the beta-carotene oxygenase 1 gene is associated with plasma triglycerides levels in middle-aged Mexican men adults., [RefSeq, PubMed]; Haploinsufficiency of the CMO1 enzyme caused hypercarotenemia and hypovitaminosis A in individuals consuming a carotenoid-containing and vitamin A-deficient diet., [RefSeq, PubMed]; SNP rs6564851 in the BCO1 Gene Is Associated with Varying Provitamin a Plasma Concentrations but Not with Retinol Concentrations among Adolescents from Rural Ghana. Publication Status: Online-Only, [RefSeq, PubMed]; Study demonstrates that human intestinal cell BCMO1 expression is dependent on the functional cooperation between peroxisome proliferator-activated receptor-gamma and myocyte enhancer factor 2 isoforms. Publication Status: Online-Only, [RefSeq, PubMed]; Symmetrically cleaves beta-carotene into two molecules of retinal using a dioxygenase mechanism., [UniProtKB, PubMed, PubMed, PubMed]; Vitamin A metabolism is important for vital processes such as vision, embryonic development, cell differentiation, and membrane and skin protection. The protein encoded by this gene is a key enzyme in beta-carotene metabolism to vitamin A. It catalyzes the oxidative cleavage of beta,beta-carotene into two retinal molecules. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AV48;A0AV50;Q9NVH5", "ec_number_list": [ { "id": "1.13.11.63", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.63", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003834 beta-carotene 15,15'-dioxygenase activity;GO:0010436 carotenoid dioxygenase activity;GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0042572 retinol metabolic process;GO:0042574 retinal metabolic process;GO:0035238 vitamin A biosynthetic process;GO:0016121 carotene catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9HAY6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L12-1", "uniprot_id": [ { "id": "CALR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L12", "type": "external" } ], "mass": 44996.0, "length": 384, "protein_name": "Calreticulin-3", "gene_name": "CALR3", "organism": "Human", "refseq_name": "calreticulin-3 precursor", "refseq_ac": [ { "id": "NP_659483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659483", "type": "external" } ], "gene_names_uniprotkb": "CALR3; CRT2", "gene_names_refseq": "CALR3; CMH19; CRT2; CT93", "protein_names_uniprotkb": "Calreticulin-3; Calreticulin-2; Calsperin", "protein_names_refseq": "calreticulin-2; calreticulin-3 precursor; calsperin; cancer/testis antigen 93; testis secretory sperm-binding protein Li 226n", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:125972)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12384296;17655857;17975137;21590275;25892735;26252478;29988065;35051231;36082776", "class_list": "glycogene", "function": "ADAM2, CALR3 and SAGE1 cancer/testis antigens are not promising targets for immunotherapy of breast and lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CALR3 variant is not associated with cardiomyopathy in Dutch cohort. In three families, CALR3 mutation did not segregate with cardiomyopathy., [RefSeq, PubMed]; CRT2 is a novel cancer-testis antigen frequently expressed in various cancers, [RefSeq, PubMed]; Calreticulin-2 is localized in the lumen of the endoplasmic reticulum but is not a Ca2+ -binding protein., [RefSeq, PubMed]; During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility (By similarity). CALR3 capacity for calcium-binding may be absent or much lower than that of CALR., [UniProtKB, PubMed]; The protein encoded by this gene belongs to the calreticulin family, members of which are calcium-binding chaperones localized mainly in the endoplasmic reticulum. This protein is also localized to the endoplasmic reticulum lumen, however, its capacity for calcium-binding may be absent or much lower than other family members. This gene is specifically expressed in the testis, and may be required for sperm fertility. Mutation in this gene has been associated with familial hypertrophic cardiomyopathy. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 536, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D9N574;Q96LN3", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051082 unfolded protein binding;GO:0030246 carbohydrate binding;GO:0044183 protein folding chaperone;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006457 protein folding;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96L12-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYE0-1", "uniprot_id": [ { "id": "CC146_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYE0", "type": "external" } ], "mass": 112806.0, "length": 955, "protein_name": "Coiled-coil domain-containing protein 146", "gene_name": "CCDC146", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 146", "refseq_ac": [ { "id": "NP_065930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065930", "type": "external" } ], "gene_names_uniprotkb": "CCDC146; KIAA1505", "gene_names_refseq": "CCDC146; MBO2; SPGF94", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 146", "protein_names_refseq": "coiled-coil domain-containing protein 146", "tax_id": 9606, "disease": "spermatogenic failure 94 (Disease Ontology:DOID:0070593); male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:57639)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;19139490;25074808;28832583;29242379;29557506;30094225;30429286;32983136;33981976;35051231;36215666;38441556;39245651", "class_list": "", "function": "Essential for sperm flagellum biogenesis and male fertility., [UniProtKB, UniProtKB]; Homozygous CCDC146 mutation causes oligoasthenoteratozoospermia in humans and mice., [RefSeq, PubMed]; Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8X6;Q9P223", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005856 cytoskeleton;GO:0036126 sperm flagellum;GO:0005814 centriole;GO:0005930 axoneme", "go_biological_process": "GO:0007286 spermatid development;GO:0007288 sperm axoneme assembly;GO:1905198 manchette assembly;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8IYE0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHY0-1", "uniprot_id": [ { "id": "B4GN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHY0", "type": "external" } ], "mass": 63258.0, "length": 566, "protein_name": "N-acetylneuraminylgalactosylglucosyl-glucoside beta-1,4-N- acetylgalactosaminyltransferase 2", "gene_name": "B4GALNT2", "organism": "Human", "refseq_name": "beta-1,4 N-acetylgalactosaminyltransferase 2 isoform b", "refseq_ac": [ { "id": "NP_001152859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152859", "type": "external" } ], "gene_names_uniprotkb": "B4GALNT2; GALGT2", "gene_names_refseq": "B4GALNT2; B4GALT; GALGT2", "protein_names_uniprotkb": "N-acetylneuraminylgalactosylglucosyl-glucoside beta-1,4-N- acetylgalactosaminyltransferase 2; 2.4.1.165; Beta-1,4 N-acetylgalactosaminyltransferase 2; Sd(a) beta-1,4-GalNAc transferase; UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase", "protein_names_refseq": "UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase; UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase; beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT; beta-1,4 N-acetylgalactosaminyltransferase 2 isoform b; beta-1,4 N-acetylgalactosaminyltransferase 2; beta-1,4-N-acetyl-galactosaminyl transferase 2; beta-4-N-acetylgalactosaminyltransferase; sd(a) beta-1,4-GalNAc transferase; sda beta-1,4-GalNAc transferase", "tax_id": 9606, "disease": "Sd(a) polyagglutination syndrome (MIM:MIM:615018)", "pathway": " (hsa:124872); (R-HSA-446203); (R-HSA-9037629)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10206952;10212226;11470266;12089159;12107078;12171918;12222957;12678917;14514716;14688233;15158662;1520296;16024623;16317064;16959974;1702034;17123352;1716630;1740457;18669648;1977660;19835842;20305658;20798515;24112972;24953560;25892735;26992070;2834401;28813663;29557506;30067891;31367682;33091337;33919332;34397142;34500083;35051231;35409292;35580925;36835549;6156677;7072193;7876235;8207002;8240337;8288606;8333853;9219535;9582303", "class_list": "glycogene;glycosyltransferase", "function": "Analysis of the proximal promoter of the human colon-specific B4GALNT2 (Sd(a) synthase) gene: B4GALNT2 is transcriptionally regulated by ETS1., [RefSeq, PubMed]; B4GALNT2 Controls Sd(a) and SLe(x) Antigen Biosynthesis in Healthy and Cancer Human Colon. Review article, [RefSeq, PubMed]; B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008]., [RefSeq]; Beta-1,4 N-acetylgalactosaminyltransferase involved in the biosynthesis of Sd(a) histo-blood group antigen. Catalyzes the transfer of N-acetylgalactosamine (GalNAc) group in a beta-1,4-linkage from UDP-GalNAc to the galactose residue of NeuAcalpha2->3Gal-R to form Sd(a) glycan epitope GalNAcbeta1->4(NeuAcalpha2->3)Gal-R. The Sd(a) epitope is carried in O- and N-linked glycoproteins and glycolipids, including O-linked core 1 structures on GYPA/glycophorin, SLC4A1 and SLC29A1 in erythrocytes, N-linked glycans attached to the Tamm-Horsfall glycoprotein UMOD/uromodulin in renal fluids, O-linked core 3 glycans on mucins in colon and neolactosides in gastric mucosa (PubMed:12678917, PubMed:14688233, PubMed:16024623, PubMed:35409292). Confers protection against influenza A virus strains that attach to NeuAcalpha2->3-carrying host receptors. Modifies N-glycan chains on host receptors and prevents virus entry into cells (PubMed:28813663)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System. Publication Status: Online-Only, [RefSeq, PubMed]; Glycosyltransferase B4GALNT2 as a Predictor of Good Prognosis in Colon Cancer: Lessons from Databases. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular cloning; cDNA predicts a 566 aa protein showing 66.6% and 39% identity with mouse CT beta4GalNAc-T and human GM2/GD2 synthase, [RefSeq, PubMed]; N-Glycan on the Non-Consensus N-X-C Glycosylation Site Impacts Activity, Stability, and Localization of the Sd[a] Synthase B4GALNT2. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 257, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DZE4;Q14CP1;Q86Y40", "ec_number_list": [ { "id": "2.4.1.165", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.165", "type": "external" } ], "go_molecular_function": "GO:0008376 acetylgalactosaminyltransferase activity;GO:0047233 N-acetylneuraminylgalactosylglucosylceramide beta-1,4-N-acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0022408 negative regulation of cell-cell adhesion;GO:0009312 oligosaccharide biosynthetic process;GO:0006047 UDP-N-acetylglucosamine metabolic process;GO:0019276 UDP-N-acetylgalactosamine metabolic process", "synthesized_glycan_count": 72, "hit_score": 5.3, "record_id": "Q8NHY0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92851-1", "uniprot_id": [ { "id": "CASPA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92851", "type": "external" } ], "mass": 58951.0, "length": 521, "protein_name": "Caspase-10", "gene_name": "CASP10", "organism": "Human", "refseq_name": "caspase-10 isoform 6 preproprotein", "refseq_ac": [ { "id": "NP_001193453", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193453", "type": "external" } ], "gene_names_uniprotkb": "CASP10; MCH4", "gene_names_refseq": "ALPS2; CASP10; FLICE-2; FLICE2; MCH4", "protein_names_uniprotkb": "Caspase-10; 3.4.22.63; Apoptotic protease Mch-4; CASP-10; FAS-associated death domain protein interleukin-1B-converting enzyme 2; FLICE2; ICE-like apoptotic protease 4", "protein_names_refseq": "FADD-like ICE2; FAS-associated death domain protein interleukin-1B-converting enzyme 2; ICE-like apoptotic protease 4; apoptotic protease MCH-4; caspase 10 apoptosis-related cysteine peptidase; caspase 10, apoptosis-related cysteine protease; caspase-10 isoform 6 preproprotein; interleukin-1B-converting enzyme 2", "tax_id": 9606, "disease": "non-Hodgkin lymphoma (Disease Ontology:DOID:0060060); autoimmune lymphoproliferative syndrome type 2A (Disease Ontology:DOID:0110115); stomach cancer (Disease Ontology:DOID:10534)", "pathway": " (hsa:843); (R-HSA-6803207); (R-HSA-75157); (R-HSA-75158); (R-HSA-933543)", "pathway_count": 5, "publication_count": 85, "publication_id_list": "10187817;10393175;10412980;10894160;10973264;11002417;11161814;11237011;11278253;11390368;11559530;11717445;11973654;12010812;12089322;12107169;12198154;12884866;1373520;14688482;14759258;15069192;15073321;15580302;16127453;16135520;16183742;16251207;16446975;16585540;16618810;16916640;17284521;17327223;17525332;17822854;18563783;18761323;19557502;19900088;20025484;20303873;20852190;20978178;22854598;23703390;25528640;27378136;27535533;27920218;28218747;28832583;29242379;29393594;29437277;29493099;29557506;30315122;31154438;31217245;31530632;31848261;32387766;32502341;32983136;33298915;34171305;34329798;34463927;35051231;35494241;35580925;36323068;38704374;7530336;7536190;8242741;8521815;8681376;8755496;8777713;8962078;9045686;9082980;9311998", "class_list": "", "function": "Caspase-10 affects the pathogenesis of primary biliary cholangitis by regulating inflammatory cell death., [RefSeq, PubMed]; Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates effector caspases CASP3, CASP4, CASP6, CASP7, CASP8 and CASP9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC., [UniProtKB, PubMed, PubMed]; Isoform 7 can enhance NF-kappaB activity but promotes only slight apoptosis., [UniProtKB, PubMed]; Isoform C is proteolytically inactive., [UniProtKB, PubMed]; Relationship Between CASP9 and CASP10 Gene Polymorphisms and Cancer Susceptibility: Evidence from an Updated Meta-analysis. Erratum:[Appl Biochem Biotechnol. 2022 Feb;194(2):1025. doi: 10.1007/s12010-021-03647-0. PMID: 34529231], [RefSeq, PubMed]; Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene are associated with type IIA autoimmune lymphoproliferative syndrome, non-Hodgkin lymphoma and gastric cancer. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]., [RefSeq]; Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q68HC0;Q6KF62;Q6KF63;Q8IUP5;Q8WYQ8;Q99845;Q9Y2U6;Q9Y2U7", "ec_number_list": [ { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "type": "external" }, { "id": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" }, { "id": "3.4.22.63", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.63", "type": "external" } ], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0004197 cysteine-type endopeptidase activity;GO:0035877 death effector domain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031265 CD95 death-inducing signaling complex;GO:0097342 ripoptosome", "go_biological_process": "GO:0006508 proteolysis;GO:0006915 apoptotic process;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0043525 positive regulation of neuron apoptotic process;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q92851-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969J3-1", "uniprot_id": [ { "id": "BORC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969J3", "type": "external" } ], "mass": 22222.0, "length": 196, "protein_name": "BLOC-1-related complex subunit 5", "gene_name": "BORCS5", "organism": "Human", "refseq_name": "BLOC-1-related complex subunit 5 isoform 2", "refseq_ac": [ { "id": "NP_001287671", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287671", "type": "external" } ], "gene_names_uniprotkb": "BORCS5; LOH12CR1", "gene_names_refseq": "BORCS5; LOH12CR1; LOH1CR12", "protein_names_uniprotkb": "BLOC-1-related complex subunit 5; Loss of heterozygosity 12 chromosomal region 1; Myristoylated lysosomal protein; Myrlysin", "protein_names_refseq": "BLOC-1-related complex subunit 5 isoform 2; loss of heterozygosity 12 chromosomal region 1 protein; loss of heterozygosity, 12, chromosomal region 1; myristoylated lysosomal protein; myrlysin", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861)", "pathway": " (hsa:118426)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;11896457;16964243;18669648;19413330;19690332;20068231;22706990;23481700;24366607;25807930;25898167;26154972;27600516;27846572;27920218;28649982;28834231;28904123;29557506;29879888;31488873;31530632;31844290;32157095;32350084;32357974;32938616;33298915;33592498;33717175;33968037;33981976;34087483;34357683;34509645;36241641;36717601", "class_list": "", "function": "As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Thereby, it may indirectly play a role in cell spreading and motility., [UniProtKB, PubMed]; BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. Publication Status: Online-Only, [RefSeq, PubMed]; Our results suggest that LMO3-BORCS5 fusion oncogene plays an essential role in tumorigenesis, [RefSeq, PubMed]; The present results suggest that LOH12CR1 might function as a tumor suppressor. Thus, loss of function of LOH12CR1 might be a potential driver in the development of colorectal carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96QS5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0030424 axon;GO:0030672 synaptic vesicle membrane;GO:0098574 cytoplasmic side of lysosomal membrane;GO:0099078 BORC complex", "go_biological_process": "GO:0051036 regulation of endosome size;GO:0032418 lysosome localization;GO:0072384 organelle transport along microtubule;GO:1903744 positive regulation of anterograde synaptic vesicle transport;GO:0062196 regulation of lysosome size", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q969J3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FH0-1", "uniprot_id": [ { "id": "BORC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FH0", "type": "external" } ], "mass": 13403.0, "length": 119, "protein_name": "BLOC-1-related complex subunit 8", "gene_name": "BORCS8", "organism": "Human", "refseq_name": "BLOC-1-related complex subunit 8 isoform 2", "refseq_ac": [ { "id": "NP_001139255", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139255", "type": "external" } ], "gene_names_uniprotkb": "BORCS8; MEF2BNB", "gene_names_refseq": "BORCS8; MEF2BNB; NDOABA", "protein_names_uniprotkb": "BLOC-1-related complex subunit 8; MEF2B neighbor", "protein_names_refseq": "BLOC-1-related complex subunit 8 isoform 2; MEF2B neighbor gene protein; protein MEF2BNB", "tax_id": 9606, "disease": "neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities (MONDO:MONDO:0975837)", "pathway": " (hsa:729991)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;19913121;20628086;23186163;25418920;25576301;25880248;25898167;27600516;28832583;30779550;31844290;32157095;32357974;32938616;33592498;33691108;33912179;34932366;35051231;36717601;38128568", "class_list": "", "function": "As part of the BLOC-one-related complex (BORC), it plays a role in the movement and localization of lysosomes at the cell periphery (PubMed:25898167, PubMed:38128568). Associated with the cytosolic face of lysosomes, BORC recruits ARL8B to the lysosomal membrane and couples lysosomes to microtubule plus-end-directed kinesin motors, driving lysosome movement toward the cell periphery., [UniProtKB, PubMed, PubMed]; BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. Publication Status: Online-Only, [RefSeq, PubMed]; Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RXF9;Q9BT01", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098574 cytoplasmic side of lysosomal membrane;GO:0099078 BORC complex", "go_biological_process": "GO:0007507 heart development;GO:0051036 regulation of endosome size;GO:0032418 lysosome localization;GO:0072384 organelle transport along microtubule;GO:0062196 regulation of lysosome size", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96FH0-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G97-2", "uniprot_id": [ { "id": "BSCL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G97", "type": "external" } ], "mass": 44392.0, "length": 398, "protein_name": "Seipin", "gene_name": "BSCL2", "organism": "Human", "refseq_name": "seipin isoform 1", "refseq_ac": [ { "id": "NP_001116427", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116427", "type": "external" } ], "gene_names_uniprotkb": "BSCL2", "gene_names_refseq": "BSCL2; GNG3LG; HMN5C; HMN5; HMND13; PELD; SPG17", "protein_names_uniprotkb": "Seipin; Bernardinelli-Seip congenital lipodystrophy type 2 protein", "protein_names_refseq": "BSCL2, seipin lipid droplet biogenesis associated; Berardinelli-Seip congenital lipodystrophy 2 (seipin); Bernardinelli-Seip congenital lipodystrophy type 2 protein; seipin isoform 1", "tax_id": 9606, "disease": "congenital generalized lipodystrophy (Disease Ontology:DOID:0050585); autosomal dominant distal hereditary motor neuronopathy 13 (Disease Ontology:DOID:0081401); hereditary spastic paraplegia 17 (Disease Ontology:DOID:0110770); congenital generalized lipodystrophy type 2 (Disease Ontology:DOID:0111136); male infertility (Disease Ontology:DOID:12336); azoospermia (Disease Ontology:DOID:14227); hereditary spastic paraplegia (Disease Ontology:DOID:2476); lipodystrophy (Disease Ontology:DOID:811); severe neurodegenerative syndrome with lipodystrophy (MONDO:MONDO:0014402)", "pathway": " (hsa:26580)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11479539;14602785;14981520;15732094;16427281;16574104;1674639;17663003;18458148;18585921;19278620;19396477;20058876;20806400;21533227;23553728;23564749;24190977;24275569;24604904;25645385;25892735;26992070;27564575;27879284;28904123;29741879;30293840;30901948;30970241;31178403;31217245;31708432;31844290;32157095;32357974;32897882;32938616;33537174;33592498;33717175;33912179;33968037;34171305;35051231;35154160;35580925;36010968;36539320;37074911;37897134;38703568;5964029", "class_list": "", "function": "Alterations in BSCL2 (seipin gene) are responsible for BSCL (OMIM :606158).Predicted human seipin protein sequence., [RefSeq, PubMed]; Congenital lipodystrophy patients with Seipin mutations have a more severe lack of body fat, which affects both metabolically active and mechanical adipose tissue, compared with patients with mutations in the AGPAT2 gene., [RefSeq, PubMed]; Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. GeneRIF: seipin is an integral membrane protein of the endoplasmic reticulum (ER), [RefSeq, PubMed]; Mediates the formation of lipid droplets during the differentiation and maturation of adipocytes (PubMed:19278620, PubMed:21533227, PubMed:27564575, PubMed:30293840, PubMed:31708432). Together with LDAF1, defines the sites of lipid droplet formation in the endoplasmic reticulum and promotes the aggregation of triacylglycerol molecules to form the core of a lipid droplet (nucleation) in the endoplasmic reticulum and drive budding of lipid droplets into the cytoplasm (PubMed:31708432). BSCL2 and LDAF1 also regulate protein and lipid delivery from the endoplasmic reticulum into growing lipid droplets (PubMed:27879284, PubMed:31178403). During early adipogenesis, BSCL2 inhibits GPAT3 and GPAT4 activity, thereby preventing phosphatidic acid accumulation that could antagonize PPARG and block differentiation (By similarity). This inhibition is then relieved by ADIG during adipocyte maturation, allowing expansion of lipid droplets (By similarity). Regulates the maturation of ZFYVE1-positive nascent lipid droplets and the function of the RAB18-ZFYVE1 complex in mediating the formation of endoplasmic reticulum-lipid droplet contacts (PubMed:30970241). Binds anionic phospholipids including phosphatidic acid (PubMed:30293840)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Pathogenic variants in three families with distal muscle involvement., [RefSeq, PubMed]; Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-kappaB pathway., [RefSeq, PubMed]; Seipin overexpression attenuates cerebral ischemia-reperfusion injury via preventing apoptosis and autophagy., [RefSeq, PubMed]; This gene encodes the multi-pass transmembrane protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Jul 2024]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 13, "disease_count": 9, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "G3XAE4;Q567S1;Q96SV1;Q9BSQ0", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding", "go_cellular_component": "GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0050995 negative regulation of lipid catabolic process;GO:0045444 fat cell differentiation;GO:0019915 lipid storage;GO:0034389 lipid droplet organization", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96G97-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUT1-1", "uniprot_id": [ { "id": "DHRS6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUT1", "type": "external" } ], "mass": 26724.0, "length": 245, "protein_name": "Dehydrogenase/reductase SDR family member 6", "gene_name": "BDH2", "organism": "Human", "refseq_name": "dehydrogenase/reductase SDR family member 6", "refseq_ac": [ { "id": "NP_064524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064524", "type": "external" } ], "gene_names_uniprotkb": "BDH2; DHRS6; PRO20933; SDR15C1", "gene_names_refseq": "BDH2; DHRS6; EFA6R; PRO20933; SDR15C1; UCPA-OR; UNQ6308", "protein_names_uniprotkb": "Dehydrogenase/reductase SDR family member 6; (R)-beta-hydroxybutyrate dehydrogenase; 1.1.1.-; 1.1.1.104; 1.1.1.30; 3-hydroxybutyrate dehydrogenase type 2; 4-oxo-L-proline reductase; Oxidoreductase UCPA; Short chain dehydrogenase/reductase family 15C member 1", "protein_names_refseq": "(R)-beta-hydroxybutyrate dehydrogenase; 3-hydroxybutyrate dehydrogenase, type 2; 4-oxo-L-proline reductase; R-beta-hydroxybutyrate dehydrogenase; dehydrogenase/reductase SDR family member 6; oxidoreductase UCPA; short chain dehydrogenase/reductase family 15C member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56898); (R-HSA-77111)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;10931946;11237011;11479731;12623130;12975309;16380372;1639787;17762044;20102333;22527885;22847177;22865860;23396451;25418920;25576301;25645385;26154972;26992070;27600516;27846572;28228285;28834231;28904123;29242379;29393594;29508533;29557506;29632046;30429286;30524438;30643007;31819181;31844290;31848261;32157095;32265295;32344823;32350084;32357974;32387766;32488085;32605589;32897882;32938616;32983136;33298915;33592498;33717175;33968037;34087483;34171305;35008409;35051231;35150746;35251023;36010968;3709573;38665916;39894887;7061490;8440722", "class_list": "", "function": "BDH2 expression is downregulated in nasopharyngeal carcinoma. Overexpression of BDH2 in nasopharyngeal carcinoma cells decreased the levels of intracellular iron, thereby inhibiting cell proliferation. In addition, overexpression of BDH2 reduced invasion and migration of nasopharyngeal carcinoma cells by reversing epithelial-mesenchymal transition., [RefSeq, PubMed]; BDH2 triggers ROS-induced cell death and autophagy by promoting Nrf2 ubiquitination in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; DHRS6 is an orphan short chain dehydrogenase/ reductase enzyme, [RefSeq, PubMed]; LncRNA TP73 antisense RNA 1T (TP73-AS1) positively regulates 3-hydroxybutyrate dehydrogenase type 2 (BDH2) by regulating miR-141. Publication Status: Online-Only, [RefSeq, PubMed]; NAD(H)-dependent dehydrogenase/reductase with a preference for cyclic substrates (By similarity) (PubMed:35150746). Catalyzes stereoselective conversion of 4-oxo-L-proline to cis-4-hydroxy-L-proline, likely a detoxification mechanism for ketoprolines (PubMed:35150746). Mediates the formation of 2,5-dihydroxybenzoate (2,5-DHBA), a siderophore that chelates free cytoplasmic iron and associates with LCN2, thereby regulating iron transport and homeostasis while protecting cells against free radical-induced oxidative stress. The iron-siderophore complex is imported into mitochondria, providing an iron source for mitochondrial metabolic processes in particular heme synthesis (By similarity). May act as a 3-hydroxybutyrate dehydrogenase (PubMed:16380372)., [UniProtKB, PubMed, UniProtKB, PubMed]; The Effects of Human BDH2 on the Cell Cycle, Differentiation, and Apoptosis and Associations with Leukemia Transformation in Myelodysplastic Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K295;B4DUF6;Q503A0;Q6IA46;Q6UWD3;Q9H8S8;Q9NRX8", "ec_number_list": [ { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.104", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.104", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0051287 NAD binding;GO:0003858 3-hydroxybutyrate dehydrogenase activity;GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor;GO:0016617 4-oxoproline reductase activity;GO:0008667 2,3-dihydro-2,3-dihydroxybenzoate dehydrogenase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0030855 epithelial cell differentiation;GO:0019290 siderophore biosynthetic process;GO:0042168 heme metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9BUT1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0H9-1", "uniprot_id": [ { "id": "C4F30_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0H9", "type": "external" } ], "mass": 12413.0, "length": 118, "protein_name": "Putative cytochrome P450 family member 4F30", "gene_name": "CYP4F30P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CYP4F30P; C2orf14", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative cytochrome P450 family member 4F30", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11230166", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9H0H9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPB3-1", "uniprot_id": [ { "id": "CABP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPB3", "type": "external" } ], "mass": 24482.0, "length": 220, "protein_name": "Calcium-binding protein 2", "gene_name": "CABP2", "organism": "Human", "refseq_name": "calcium-binding protein 2 isoform 3", "refseq_ac": [ { "id": "NP_001305425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305425", "type": "external" } ], "gene_names_uniprotkb": "CABP2", "gene_names_refseq": "CABP2; DFNB93", "protein_names_uniprotkb": "Calcium-binding protein 2; CaBP2", "protein_names_refseq": "calcium-binding protein 2 isoform 3", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 93 (Disease Ontology:DOID:0110537)", "pathway": " (hsa:51475); (R-HSA-9662360)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10025409;10625670;11108966;11163272;11237011;19338761;22981119;28183797;28228285;31844290;35051231;35150090", "class_list": "", "function": "Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant., [RefSeq, PubMed]; Genetic defects in CABP2 cause moderate-to-severe sensorineural hearing impairment., [RefSeq, PubMed]; Required for sound encoding at inner hair cells (IHCs) synapses, likely via inhibition of the inactivation of voltage-gated calcium channel of type 1.3 (Cav1.3) in the IHCs (PubMed:28183797). Required for the normal transfer of light signals through the retina (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005246 calcium channel regulator activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007601 visual perception;GO:0007605 sensory perception of sound;GO:0007602 phototransduction", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9NPB3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRR8-1", "uniprot_id": [ { "id": "C42S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRR8", "type": "external" } ], "mass": 8925.0, "length": 79, "protein_name": "CDC42 small effector protein 1", "gene_name": "CDC42SE1", "organism": "Human", "refseq_name": "CDC42 small effector protein 1", "refseq_ac": [ { "id": "NP_001033796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033796", "type": "external" } ], "gene_names_uniprotkb": "CDC42SE1; SPEC1", "gene_names_refseq": "CDC42SE1; SCIP1; SPEC1", "protein_names_uniprotkb": "CDC42 small effector protein 1; CDC42-binding protein SCIP1; Small effector of CDC42 protein 1", "protein_names_refseq": "1300002M12Rik; CDC42 small effector protein 1; CDC42-binding protein SCIP1; signaling molecule SPEC1 beta; small effector of CDC42 protein 1; small protein effector 1 of Cdc42", "tax_id": 9606, "disease": "", "pathway": " (hsa:56882)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10816584;11595176;15840583;17045588;24715725;25576301;25645385;25892735;26154972;26992070;27600516;27846572;27862975;27869121;27920218;28832583;29242379;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30379171;30429286;30717410;30784271;31530632;31844290;31848261;31998317;32157095;32350084;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33592498;33936100;33968037;34087483;34211107;34357683;34433824;35051231;35251023;35580925;36010968;36284347", "class_list": "", "function": "CDC42SE1 is downregulated in skin cancer to promote tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression studies of the related SPEC1 showed that it also was recruited to the activated TCR. Mutational analysis revealed that localization of SPEC1 to the TCR required two N-terminal cysteine residues, [RefSeq, PubMed]; Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulation at the immunological synapse. May play a role in early contractile events in phagocytosis in macrophages., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DV12;Q9HB17;Q9NQR2", "ec_number_list": [], "go_molecular_function": "GO:0005095 GTPase inhibitor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0007165 signal transduction;GO:0006909 phagocytosis;GO:0035023 regulation of Rho protein signal transduction;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9NRR8-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWK9-1", "uniprot_id": [ { "id": "BCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWK9", "type": "external" } ], "mass": 53918.0, "length": 470, "protein_name": "Box C/D snoRNA protein 1", "gene_name": "ZNHIT6", "organism": "Human", "refseq_name": "box C/D snoRNA protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001164141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164141", "type": "external" } ], "gene_names_uniprotkb": "ZNHIT6; BCD1; C1orf181", "gene_names_refseq": "BCD1; C1orf181; NY-BR-75; ZNHIT6", "protein_names_uniprotkb": "Box C/D snoRNA protein 1; Serologically defined breast cancer antigen NY-BR-75; Zinc finger HIT domain-containing protein 6", "protein_names_refseq": "box C/D snoRNA essential 1 homolog; box C/D snoRNA protein 1 isoform 2; box C/D snoRNA protein 1; serologically defined breast cancer antigen NY-BR-75; zinc finger HIT domain-containing protein 6; zinc finger, HIT type 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:54680)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "12747765;16959974;17636026;18669648;23186163;24275569;24366607;25218447;25418920;25505266;25576301;25645385;25755297;26154972;26791533;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28561026;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;30315122;30429286;30524438;31154438;31530632;31844290;32157095;32161166;32265295;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34211107;34932366;35051231;35580925;36010968", "class_list": "", "function": "Required for box C/D snoRNAs accumulation involved in snoRNA processing, snoRNA transport to the nucleolus and ribosome biogenesis., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBA1;B4DP13;D3DT20;Q9H278;Q9H3X3;Q9NWN0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0051117 ATPase binding;GO:0001094 TFIID-class transcription factor complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0070761 pre-snoRNP complex", "go_biological_process": "GO:0051259 protein complex oligomerization;GO:0000492 box C/D snoRNP assembly;GO:0048254 snoRNA localization;GO:0000463 maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9NWK9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY43-1", "uniprot_id": [ { "id": "BARH2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY43", "type": "external" } ], "mass": 41981.0, "length": 387, "protein_name": "BarH-like 2 homeobox protein", "gene_name": "BARHL2", "organism": "Human", "refseq_name": "barH-like 2 homeobox protein", "refseq_ac": [ { "id": "NP_064447", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064447", "type": "external" } ], "gene_names_uniprotkb": "BARHL2", "gene_names_refseq": "BARHL2", "protein_names_uniprotkb": "BarH-like 2 homeobox protein", "protein_names_refseq": "barH-like 2 homeobox protein", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); stomach cancer (Disease Ontology:DOID:10534); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:343472)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "10814725;35051231", "class_list": "", "function": "Potential regulator of neural basic helix-loop-helix genes., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AVP2;Q7Z4N7", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9NY43-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZT1-1", "uniprot_id": [ { "id": "CALL5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZT1", "type": "external" } ], "mass": 15893.0, "length": 146, "protein_name": "Calmodulin-like protein 5", "gene_name": "CALML5", "organism": "Human", "refseq_name": "calmodulin-like protein 5", "refseq_ac": [ { "id": "NP_059118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059118", "type": "external" } ], "gene_names_uniprotkb": "CALML5; CLSP", "gene_names_refseq": "CALML5; CLSP", "protein_names_uniprotkb": "Calmodulin-like protein 5; Calmodulin-like skin protein", "protein_names_refseq": "calmodulin-like protein 5; calmodulin-like skin protein", "tax_id": 9606, "disease": "dry eye syndrome (Disease Ontology:DOID:10140); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:51806); (R-HSA-6798695); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10777582;11969404;12067728;12624109;15140226;15234001;15556625;15675955;15780751;16297201;16689864;16765896;17330888;17488105;19924134;20068231;22735594;23283814;23629652;23650620;24715725;24794495;25892735;26340985;26375851;26992070;27452731;27726376;27862975;28218747;28228285;28855257;29242379;29314611;29393594;29508533;29557506;29632711;29786170;30315122;30397120;30524438;30626607;30833945;30905808;31038250;31092671;31154438;31399284;31530632;31844290;32350084;32373127;32387766;32488085;32983136;33043033;33141586;33592498;33968037;33997976;34078123;34171305;35051231;35580925;36284347;36924358;37074911;38013352;38665916;8692836", "class_list": "", "function": "Abnormal elevated levels of CLSP, characteristic of psoriatic epidermis, were probably not due to an overexpression of the protein, but most likely the result of its non-degradation, [RefSeq, PubMed]; An investigation of the cation-binding properties of CLSP and the ensuing conformational changes finds that, with its high- and low-affinity Ca+2+-binding sites and a pronounced effect of Mg2+, CLSP is more similar to troponin C than to calmodulin., [RefSeq, PubMed]; Binds calcium. May be involved in terminal differentiation of keratinocytes., [UniProtKB]; CALML5 is a novel diagnostic marker for differentiating thymic squamous cell carcinoma from type B3 thymoma., [RefSeq, PubMed]; Identification of calmodulin-like protein 5 as tumor-suppressor gene silenced during early stage of carcinogenesis in squamous cell carcinoma of uterine cervix., [RefSeq, PubMed]; Identification of lactylation gene CALML5 and its correlated lncRNAs in cutaneous melanoma by machine learning., [RefSeq, PubMed]; The authors results suggest that CLSP may function as a senescence-suppressing factor in keratinocytes., [RefSeq, PubMed]; The structure and dynamics of human calmodulin-like skin protein (CLSP) have been characterized by NMR spectroscopy., [RefSeq, PubMed]; This gene encodes a novel calcium binding protein expressed in the epidermis and related to the calmodulin family of calcium binding proteins. Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so. Abundant expression is detected only in reconstructed epidermis and is restricted to differentiating keratinocytes. In addition, it can associate with transglutaminase 3, shown to be a key enzyme in the terminal differentiation of keratinocytes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5SQI3;Q8IXU8", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0007165 signal transduction;GO:0008544 epidermis development;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9NZT1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2K1-4", "uniprot_id": [ { "id": "C2D2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2K1", "type": "external" } ], "mass": 186185.0, "length": 1620, "protein_name": "Coiled-coil and C2 domain-containing protein 2A", "gene_name": "CC2D2A", "organism": "Human", "refseq_name": "coiled-coil and C2 domain-containing protein 2A isoform a", "refseq_ac": [ { "id": "NP_001073991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073991", "type": "external" } ], "gene_names_uniprotkb": "CC2D2A; KIAA1345", "gene_names_refseq": "CC2D2A; COACH2; JBTS9; MKS6; RP93", "protein_names_uniprotkb": "Coiled-coil and C2 domain-containing protein 2A", "protein_names_refseq": "coiled-coil and C2 domain-containing protein 2A isoform a; coiled-coil and C2 domain-containing protein 2A", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); Joubert syndrome (Disease Ontology:DOID:0050777); Meckel syndrome (Disease Ontology:DOID:0050778); ciliopathy (Disease Ontology:DOID:0060340); retinitis pigmentosa 93 (Disease Ontology:DOID:0061105); Meckel syndrome 6 (Disease Ontology:DOID:0070120); Joubert syndrome 9 (Disease Ontology:DOID:0111004); intellectual disability (Disease Ontology:DOID:1059); COACH syndrome 2 (MONDO:MONDO:0030859)", "pathway": " (hsa:57545); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 90, "publication_id_list": "16357211;17574030;17646400;17719545;18037885;18387594;18513680;18694559;18801063;18950740;19004860;19068953;19081074;19466712;19574260;19615748;19777577;19940019;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22241855;22246503;22425360;22433857;22653444;23012439;23141531;23141541;23253480;23348840;23400999;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24706459;24982133;25047611;25313408;25576301;26375851;26477546;27600516;28832583;29242379;29393594;29557506;29769354;30267408;30379171;31411728;31492838;31844290;31848261;32157095;32161166;32387766;32488085;32938616;32989887;33392160;33486889;33592498;33912179;33968037;33981976;35051231;35318648;35580925;36010968;36241641;36284347;36319078;37107568;37938771;39894887", "class_list": "", "function": "A homozygous splice-site mutation segregating in the family with autosomal-recessive mental retardation, within a coiled-coil and C2 domain-containing gene, CC2D2A was identified., [RefSeq, PubMed]; CC2D2A appears to have at least two cilia-related functions: the molecule seems to be a part of the basal body complex where the cilium is assembled from and also seems to act as a sensor for the intracellular calcium., [RefSeq, PubMed]; CC2D2A causes autosomal-recessive mental retardation with retinitis pigmentosa., [RefSeq, PubMed]; CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290., [RefSeq, PubMed]; Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity)., [UniProtKB, PubMed]; Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; New insights into CC2D2A-related Joubert syndrome., [RefSeq, PubMed]; This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]., [RefSeq]; Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies., [RefSeq, PubMed]; Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6ND97;B3FW08;D6RB72;E7EP21;E9PEV5;Q3SYP3;Q9H8A7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0036038 MKS complex;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0060271 cilium assembly;GO:0007224 smoothened signaling pathway;GO:1905515 non-motile cilium assembly;GO:1904491 protein localization to ciliary transition zone", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9P2K1-4", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Z6-1", "uniprot_id": [ { "id": "B3GT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Z6", "type": "external" } ], "mass": 37993.0, "length": 326, "protein_name": "Beta-1,3-galactosyltransferase 1", "gene_name": "B3GALT1", "organism": "Human", "refseq_name": "beta-1,3-galactosyltransferase 1", "refseq_ac": [ { "id": "NP_066191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066191", "type": "external" } ], "gene_names_uniprotkb": "B3GALT1", "gene_names_refseq": "B3GALT1; beta3Gal-T1", "protein_names_uniprotkb": "Beta-1,3-galactosyltransferase 1; 2.4.1.86; Beta-1,3-GalTase 1; Beta3Gal-T1; Beta3GalT1; UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1", "protein_names_refseq": "UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1; UDP-galactose:beta-N-acetyl-glucosamine-beta-1, 3-galactosyltransferase 1; beta-1,3-GalTase 1; beta-1,3-galactosyltransferase 1; beta3GalT1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8708); (R-HSA-9037629)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;10206952;10212226;10356986;12107078;12222957;12678917;14688233;15014171;15158662;1520296;1702034;17123352;1716630;1740457;1977660;24953560;35051231;37283178;7876235;8207002;8240337;8288606;8333853;9219535;9582303", "class_list": "glycogene;glycosyltransferase", "function": "A new allele with 303 base pairs insertion in B3GALT1 gene identified in an individual with P1 [k] phenotype., [RefSeq, PubMed]; Beta-1,3-galactosyltransferase that transfers galactose from UDP-alpha-D-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Involved in the biosynthesis of the carbohydrate moieties of glycolipids and glycoproteins. Inactive towards substrates with terminal alpha-N-acetylglucosamine (alpha-GlcNAc) or alpha-N-acetylgalactosamine (alpha-GalNAc) residues., [UniProtKB, PubMed]; This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 356, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DPB8;Q53SS2", "ec_number_list": [ { "id": "2.4.1.86", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.86", "type": "external" }, { "id": "2.4.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.62", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0008499 N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0009312 oligosaccharide biosynthetic process;GO:0006678 glucosylceramide metabolic process", "synthesized_glycan_count": 300, "hit_score": 2.9, "record_id": "Q9Y5Z6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16663-1", "uniprot_id": [ { "id": "CCL15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16663", "type": "external" } ], "mass": 12236.0, "length": 113, "protein_name": "C-C motif chemokine 15", "gene_name": "CCL15", "organism": "Human", "refseq_name": "C-C motif chemokine 15 preproprotein", "refseq_ac": [ { "id": "NP_116741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116741", "type": "external" } ], "gene_names_uniprotkb": "CCL15; MIP5; NCC3; SCYA15", "gene_names_refseq": "CCL15; HCC-2; HMRP-2B; LKN-1; LKN1; MIP-1 delta; MIP-1D; MIP-5; MRP-2B; NCC-3; NCC3; SCYA15; SCYL3; SY15", "protein_names_uniprotkb": "C-C motif chemokine 15; Chemokine CC-2; HCC-2; LKN-1; Leukotactin-1; MIP-1 delta; MIP-5; Macrophage inflammatory protein 5; Mrp-2b; NCC-3; Small-inducible cytokine A15", "protein_names_refseq": "C-C motif chemokine 15 preproprotein; C-C motif chemokine 15; chemokine (C-C motif) ligand 15; chemokine CC-2; leukotactin 1; macrophage inflammatory protein 5; new CC chemokine 3; small inducible cytokine subfamily A (Cys-Cys), member 15; small-inducible cytokine A15", "tax_id": 9606, "disease": "", "pathway": " (hsa:6359)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10213461;10320325;11237011;15340161;15905581;16034099;29242379;37987774;9129202;9548457;9558365;9600961;9624581", "class_list": "", "function": "CTHRC1 promotes colorectal cancer progression by recruiting tumor-associated macrophages via up-regulation of CCL15., [RefSeq, PubMed]; Chemotactic factor that attracts T-cells and monocytes, but not neutrophils, eosinophils, or B-cells. Acts mainly via CC chemokine receptor CCR1. Also binds to CCR3. CCL15(22-92), CCL15(25-92) and CCL15(29-92) are more potent chemoattractants than the CCL15., [UniProtKB, PubMed]; Compared with full-length CCL15, proteolytically processed CCL15 isoforms with N-terminal deletions display increased potency to induce calcium fluxes and chemotactic activity on monocytes and to induce adhesiveness of mononuclear cells to fibronectin., [RefSeq, PubMed]; This gene is located in a cluster of similar genes in the same region of chromosome 17. These genes encode CC cytokines, which are secreted proteins characterized by two adjacent cysteines. The product of this gene is chemotactic for T cells and monocytes, and acts through C-C chemokine receptor type 1 (CCR1). The proprotein is further processed into numerous smaller functional peptides. Naturally-occurring readthrough transcripts occur from this gene into the downstream gene, CCL14 (chemokine (C-C motif) ligand 14). [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RU34;E1P651;Q9UM74", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0042056 chemoattractant activity;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q16663-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GUA6-1", "uniprot_id": [ { "id": "CC195_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GUA6", "type": "external" } ], "mass": 21921.0, "length": 201, "protein_name": "Coiled-coil domain-containing protein 195", "gene_name": "CCDC195", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 195", "refseq_ac": [ { "id": "NP_001382165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382165", "type": "external" } ], "gene_names_uniprotkb": "CCDC195", "gene_names_refseq": "CCDC195", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 195", "protein_names_refseq": "coiled-coil domain-containing protein 195; putative coiled-coil domain-containing protein 195", "tax_id": 9606, "disease": "", "pathway": " (hsa:110806281)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "33592498;37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A0A1B0GUA6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCS6-1", "uniprot_id": [ { "id": "CB072_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCS6", "type": "external" } ], "mass": 30481.0, "length": 295, "protein_name": "Uncharacterized protein C2orf72", "gene_name": "C2orf72", "organism": "Human", "refseq_name": "uncharacterized protein C2orf72", "refseq_ac": [ { "id": "NP_001138466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138466", "type": "external" } ], "gene_names_uniprotkb": "C2orf72", "gene_names_refseq": "C2orf72", "protein_names_uniprotkb": "Uncharacterized protein C2orf72", "protein_names_refseq": "uncharacterized protein C2orf72", "tax_id": 9606, "disease": "", "pathway": " (hsa:257407)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "27397612;29557506;31154438;33592498;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NCS6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9J302-1", "uniprot_id": [ { "id": "CD051_HUMAN", "url": "https://www.uniprot.org/uniprot/C9J302", "type": "external" } ], "mass": 23001.0, "length": 202, "protein_name": "Uncharacterized protein C4orf51", "gene_name": "C4orf51", "organism": "Human", "refseq_name": "uncharacterized protein C4orf51", "refseq_ac": [ { "id": "NP_001074000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074000", "type": "external" } ], "gene_names_uniprotkb": "C4orf51", "gene_names_refseq": "C4orf51", "protein_names_uniprotkb": "Uncharacterized protein C4orf51", "protein_names_refseq": "uncharacterized protein C4orf51", "tax_id": 9606, "disease": "", "pathway": " (hsa:646603)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "C9J302-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VFZ6-1", "uniprot_id": [ { "id": "CF210_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VFZ6", "type": "external" } ], "mass": 66403.0, "length": 552, "protein_name": "Cilia- and flagella- associated protein 210", "gene_name": "CFAP210", "organism": "Human", "refseq_name": "cilia- and flagella- associated protein 210", "refseq_ac": [ { "id": "NP_001078916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078916", "type": "external" } ], "gene_names_uniprotkb": "CFAP210; C2orf77; CCDC173", "gene_names_refseq": "C2orf77; CCDC173; CFAP210", "protein_names_uniprotkb": "Cilia- and flagella- associated protein 210; Coiled-coil domain-containing protein 173", "protein_names_refseq": "cilia- and flagella- associated protein 210; coiled-coil domain containing 173; coiled-coil domain-containing protein 173; protein CFAP210", "tax_id": 9606, "disease": "", "pathway": " (hsa:129881)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;19664994;24714562;28282151;30379171;30429286;36191189;37217939;39894887", "class_list": "", "function": "Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJF6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0005879 axonemal microtubule;GO:0160112 axonemal B tubule inner sheath;GO:0005929 cilium", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q0VFZ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49069-1", "uniprot_id": [ { "id": "CAMLG_HUMAN", "url": "https://www.uniprot.org/uniprot/P49069", "type": "external" } ], "mass": 32953.0, "length": 296, "protein_name": "Guided entry of tail-anchored proteins factor CAMLG", "gene_name": "CAMLG", "organism": "Human", "refseq_name": "guided entry of tail-anchored proteins factor CAMLG", "refseq_ac": [ { "id": "NP_001736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001736", "type": "external" } ], "gene_names_uniprotkb": "CAMLG; CAML; GET2", "gene_names_refseq": "CAMLG; CAML; CDG2Z; GET2", "protein_names_uniprotkb": "Guided entry of tail-anchored proteins factor CAMLG; Calcium signal-modulating cyclophilin ligand", "protein_names_refseq": "calcium signal-modulating cyclophilin ligand; calcium-modulating cyclophilin ligand; cyclophilin B-binding protein; guided entry of tail-anchored proteins factor CAMLG", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIz (Disease Ontology:DOID:0051053); myeloid leukemia (Disease Ontology:DOID:8692)", "pathway": " (hsa:819); (R-HSA-9609523)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11237011;12388711;15708368;16777091;17382883;18477612;20112406;20375064;20676083;21444755;21466504;21636303;21743475;23041287;23129660;23142665;23186163;23246001;23533635;24392163;24714562;25179605;25415308;25418920;25535373;25713138;26154972;26375851;26675233;26811146;26992070;27193484;27226539;27458190;27600516;27846572;27920218;28063628;28104892;28218747;28228285;28832583;28834231;28904123;29242231;29393594;29493099;29557506;29632046;30315122;30429286;30833945;31417168;31530632;31844290;31848261;32157095;32161166;32187542;32265295;32387766;32488085;32910895;32983136;33936100;33968037;34087483;34171305;34932366;35051231;35132862;35262690;35580925;36284347;7522304;9311921", "class_list": "", "function": "Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum. Together with GET1/WRB, acts as a membrane receptor for soluble GET3/TRC40, which recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. Required for the stability of GET1. Stimulates calcium signaling in T cells through its involvement in elevation of intracellular calcium. Essential for the survival of peripheral follicular B cells., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L3Y3", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0043529 GET complex", "go_biological_process": "GO:0045048 protein insertion into ER membrane;GO:0006952 defense response;GO:0007165 signal transduction;GO:0050821 protein stabilization;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P49069-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6N8-1", "uniprot_id": [ { "id": "CAD10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6N8", "type": "external" } ], "mass": 88451.0, "length": 788, "protein_name": "Cadherin-10", "gene_name": "CDH10", "organism": "Human", "refseq_name": "cadherin-10 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_006718", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006718", "type": "external" } ], "gene_names_uniprotkb": "CDH10", "gene_names_refseq": "CDH10", "protein_names_uniprotkb": "Cadherin-10; T2-cadherin", "protein_names_refseq": "T2-cadherin; cadherin 10 type 2; cadherin-10 isoform 1 preproprotein", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:1008); (R-HSA-418990)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;10225955;10386616;10861224;11237011;12050160;16467305;16959974;17967169;18669648;19354288;19415658;20068231;24715725;25372031;28124395;28218747;29437277;29557506;31848261;32292512;34171305;35051231;7806582;9219219;9845526", "class_list": "", "function": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB]; G9a-mediated repression of CDH10 in hypoxia enhances breast tumour cell motility and associates with poor survival outcome. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of CDH10 gene is associated with pancreatic ductal adenocarcinomas., [RefSeq, PubMed]; This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. Mutations in this gene may be associated with lung squamous cell carcinoma and colorectal cancer in human patients. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 111, "reported_interactions": 0, "missing_score": 9781, "biomarker_type": "", "glycan_count": 4, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9ULB3", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0048787 presynaptic active zone membrane;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0098609 cell-cell adhesion;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9Y6N8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10092-1", "uniprot_id": [ { "id": "CALCB_HUMAN", "url": "https://www.uniprot.org/uniprot/P10092", "type": "external" } ], "mass": 13706.0, "length": 127, "protein_name": "Calcitonin gene-related peptide 2", "gene_name": "CALCB", "organism": "Human", "refseq_name": "calcitonin gene-related peptide 2 precursor", "refseq_ac": [ { "id": "NP_000719", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000719", "type": "external" } ], "gene_names_uniprotkb": "CALCB; CALC2", "gene_names_refseq": "CALC2; CALCB; CGRP-II; CGRP2", "protein_names_uniprotkb": "Calcitonin gene-related peptide 2; Beta-CGRP; Beta-type CGRP; CGRP-II; CGRP2; Calcitonin gene-related peptide II", "protein_names_refseq": "beta-CGRP; beta-type CGRP; calcitonin 2; calcitonin gene-related peptide 2 precursor; calcitonin gene-related peptide 2; calcitonin gene-related peptide II", "tax_id": 9606, "disease": "", "pathway": " (hsa:797); (R-HSA-418555); (R-HSA-419812)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10.1038/emboj.2013.79;10217420;11007482;11237011;11693189;12036966;12058044;12106601;12180353;12860470;1318039;1331173;13549488;14615490;14671004;14722252;1517224;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17665333;18044684;18577758;19105585;19876791;19929708;20381629;20573757;21036126;2163110;2177866;23153230;2322288;23584533;24169554;2417744;24687066;2491850;25297013;2553411;2553705;2608057;26417854;26432182;26559125;26967115;2871555;29171818;29255900;29443750;29602314;2985435;30833991;3127824;31279028;31311674;31399091;31556018;31800988;31983287;32145209;32226383;32266704;32497535;32540603;32618402;32636324;32715661;32851644;33049737;34234876;3492393;3492492;6085243;6148938;6609312;8340388;8387282;8514797;8626685;8672451;9212325;9263355;9417641;9620797;9651336", "class_list": "", "function": "CALCB rs3829222 T/T Genotype and Low Expression of CALCB Are High-Risk Factors for Adenoid Cystic Carcinoma of Salivary Gland. Publication Status: Online-Only, [RefSeq, PubMed]; CALCB/CGRP2 is a peptide hormone that induces vasodilation mediated by the CALCRL-RAMP1 receptor complex (PubMed:1318039, PubMed:9620797). Dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role (PubMed:3492492)., [UniProtKB, PubMed, PubMed, PubMed]; The results suggest that C12orf39, CSTA, and CALCB are novel ATF4 target genes, and that C12orf39 promoter activity is activated by ATF4 through amino acid response element., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K573;D3DQX4;Q569I0;Q9UCN9", "ec_number_list": [], "go_molecular_function": "GO:0031716 calcitonin receptor binding;GO:0005184 neuropeptide hormone activity;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007165 signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0006874 intracellular calcium ion homeostasis;GO:0051480 regulation of cytosolic calcium ion concentration;GO:1990408 calcitonin gene-related peptide receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P10092-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56202-1", "uniprot_id": [ { "id": "CATW_HUMAN", "url": "https://www.uniprot.org/uniprot/P56202", "type": "external" } ], "mass": 42120.0, "length": 376, "protein_name": "Cathepsin W", "gene_name": "CTSW", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CTSW", "gene_names_refseq": "", "protein_names_uniprotkb": "Cathepsin W; 3.4.22.-; Lymphopain", "protein_names_refseq": "", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:1521); (R-HSA-114608)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "11237011;11490002;1435334;14630798;15297306;15340161;23640497;25502872;26060270;28228285;28832583;29242379;29493099;29557506;31154438;32983136;34185709;35051231;35580925;37074911;40914422;6457647;8467233;9108299;9675123;9823953", "class_list": "", "function": "(Microbial infection) Plays a role during influenza virus infection in lungs cells ex vivo. Acts at the level of virus entering host cytoplasm from late endosome., [UniProtKB, PubMed]; May have a specific function in the mechanism or regulation of T-cell cytolytic activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q86VT4", "ec_number_list": [ { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" } ], "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0006955 immune response;GO:0051603 proteolysis involved in protein catabolic process;GO:0006508 proteolysis;GO:0002376 immune system process", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "P56202-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PK04-1", "uniprot_id": [ { "id": "CC137_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PK04", "type": "external" } ], "mass": 33231.0, "length": 289, "protein_name": "Coiled-coil domain-containing protein 137", "gene_name": "CCDC137", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 137", "refseq_ac": [ { "id": "NP_954981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_954981", "type": "external" } ], "gene_names_uniprotkb": "CCDC137; cPERP-B", "gene_names_refseq": "CCDC137; RaRF", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 137", "protein_names_refseq": "coiled-coil domain-containing protein 137; hepatocellular carcinoma related protein 2; retinoic acid resistance factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:339230)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;17924679;18220336;18669648;19007248;19651622;19664995;19690332;19691289;20068231;20813266;21406692;22266318;23186163;24714562;26992070;29557506;31844290;32157095;32387766;32502341;32538781;32938616;32983136;33298915;33592498;33968037;34087483;34171305;36010968;36061359;36254394;36581221;37938771", "class_list": "", "function": "CDK12 orchestrates super-enhancer-associated CCDC137 transcription to direct hepatic metastasis in colorectal cancer., [RefSeq, PubMed]; HIV-1 Vpr induces cell cycle arrest and enhances viral gene expression by depleting CCDC137. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic Significance of CCDC137 Expression and Its Association with Immune Infiltration in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; These data suggest that RaRF sequesters ERRalpha in the nucleolus through a specific interaction, thereby inhibiting its transcriptional activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005694 chromosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q6PK04-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75493-1", "uniprot_id": [ { "id": "CAH11_HUMAN", "url": "https://www.uniprot.org/uniprot/O75493", "type": "external" } ], "mass": 36238.0, "length": 328, "protein_name": "Carbonic anhydrase-related protein 11", "gene_name": "CA11", "organism": "Human", "refseq_name": "carbonic anhydrase-related protein 11 precursor", "refseq_ac": [ { "id": "NP_001208", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001208", "type": "external" } ], "gene_names_uniprotkb": "CA11; CARP2; PRO237", "gene_names_refseq": "CA-RP II; CA-RP; CA-XI; CA11; CARP-2; CARPX1", "protein_names_uniprotkb": "Carbonic anhydrase-related protein 11; CA-RP II; CA-RP XI; CA-XI; CARP XI; CARP-2; Carbonic anhydrase-related protein 2", "protein_names_refseq": "carbonic anhydrase XI; carbonic anhydrase-related protein 11 precursor; carbonic anhydrase-related protein 11; carbonic anhydrase-related protein 2; carbonic anhydrase-related protein XI", "tax_id": 9606, "disease": "", "pathway": " (hsa:770)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1101/2023.09.13.557529;10350627;11237011;12975309;16335952;23090970;23481700;24190977;29393594;29557506;29792187;30636076;31844290;32350084;33141586;35251023;9878252;9878543", "class_list": "", "function": "Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]; Does not have a catalytic activity., [UniProtKB]; Results suggest that CA11 and CA10 negatively regulate neuronal activity-dependent glioma growth and inhibit glioma aggression. Thus, CA11/CA10 may represent a potential therapeutic target for the treatment of gliomas., [RefSeq, PubMed]; The CARP VIII and XI proteins were associated to non-hypoxic conditions and CARP XI also to the expression of cytoplasmic CA II staining suggesting that the CARPs play a role in tumorigenesis of diffusively infiltrating gliomas Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O60596;Q6FHI1;Q9UEC4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0016836 hydro-lyase activity;GO:0004089 carbonate dehydratase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0016323 basolateral plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O75493-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43570-1", "uniprot_id": [ { "id": "CAH12_HUMAN", "url": "https://www.uniprot.org/uniprot/O43570", "type": "external" } ], "mass": 39451.0, "length": 354, "protein_name": "Carbonic anhydrase 12", "gene_name": "CA12", "organism": "Human", "refseq_name": "carbonic anhydrase 12 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001209", "type": "external" } ], "gene_names_uniprotkb": "CA12", "gene_names_refseq": "CA-XII; CA12; CAXII; HsT18816; T18816", "protein_names_uniprotkb": "Carbonic anhydrase 12; 4.2.1.1; CA-XII; Carbonate dehydratase XII; Carbonic anhydrase XII; Tumor antigen HOM-RCC-3.1.3", "protein_names_refseq": "carbonate dehydratase XII; carbonic anhydrase 12 isoform 1 precursor; carbonic anhydrase XII; carbonic dehydratase; tumor antigen HOM-RCC-3.1.3", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); colorectal carcinoma (Disease Ontology:DOID:0080199); isolated hyperchlorhidrosis (Disease Ontology:DOID:0111371); lung cancer (Disease Ontology:DOID:1324); colon adenocarcinoma (Disease Ontology:DOID:234); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); Lynch syndrome (Disease Ontology:DOID:3883); lung non-small cell carcinoma (Disease Ontology:DOID:3908); fibrolamellar carcinoma (Disease Ontology:DOID:5015); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:771); (R-HSA-1475029)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10409679;11121027;11493685;11676494;120192;14611844;15501038;1554744;16006130;16302824;17228881;17314045;17407288;17427958;17499996;17705204;17761422;18162396;18294854;18618712;18703501;18991276;19186056;19206230;20349499;20493921;20578724;21035102;2111324;21184099;21282642;2169869;22001224;234739;25505266;26486891;26911677;29557506;29632711;29741879;3080418;30833945;31366496;31844290;31979064;32161166;33043033;33592498;33968037;34087483;34171305;34405274;34696661;35051231;35362480;35561310;36241641;37587861;41018975;4994926;6407977;6433979;6819139;7625839;8083199;8356065;8399223;9054574;9336012;9635771;9636197;9770531;9784398", "class_list": "", "function": "Carbonic Anhydrase XII Expression Is Modulated during Epithelial Mesenchymal Transition and Regulated through Protein Kinase C Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Carbonic anhydrase 12 gene silencing reverses the sensitivity of paclitaxel in drug-resistant breast cancer cells., [RefSeq, PubMed]; Carbonic anhydrase XII mediates the survival and prometastatic functions of macrophages in human hepatocellular carcinoma., [RefSeq, PubMed]; Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]., [RefSeq]; Our newly identified humanized CA12-antibody with anti-cancer activity, represents a new tool for the treatment of CA12-positive tumors., [RefSeq, PubMed]; Reversible hydration of carbon dioxide., [UniProtKB, PubMed]; Trafficking of carbonic anhydrase 12 and bicarbonate transporters by histamine stimulation mediates intracellular acidic scenario in lung cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 10, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RE24;Q53YE5;Q9BWG2", "ec_number_list": [ { "id": "4.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.1", "type": "external" }, { "id": "4.2.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.69", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004089 carbonate dehydratase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0044849 estrous cycle;GO:0055064 chloride ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "O43570-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04040-1", "uniprot_id": [ { "id": "CATA_HUMAN", "url": "https://www.uniprot.org/uniprot/P04040", "type": "external" } ], "mass": 59756.0, "length": 527, "protein_name": "Catalase", "gene_name": "CAT", "organism": "Human", "refseq_name": "catalase", "refseq_ac": [ { "id": "NP_001743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001743", "type": "external" } ], "gene_names_uniprotkb": "CAT", "gene_names_refseq": "CAT", "protein_names_uniprotkb": "Catalase; 1.11.1.6", "protein_names_refseq": "catalase; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); chronic venous insufficiency (Disease Ontology:DOID:0050853); colitis (Disease Ontology:DOID:0060180); alcohol-associated liver disease (Disease Ontology:DOID:0070658); colorectal carcinoma (Disease Ontology:DOID:0080199); Graves ophthalmopathy (Disease Ontology:DOID:0081120); sensorineural hearing loss (Disease Ontology:DOID:10003); osteonecrosis (Disease Ontology:DOID:10159); Raynaud disease (Disease Ontology:DOID:10300); pneumoconiosis (Disease Ontology:DOID:10316); retinitis pigmentosa (Disease Ontology:DOID:10584); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); essential hypertension (Disease Ontology:DOID:10825); sciatic neuropathy (Disease Ontology:DOID:11446); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); optic neuritis (Disease Ontology:DOID:1210); tympanosclerosis (Disease Ontology:DOID:1214); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289); dilated cardiomyopathy (Disease Ontology:DOID:12930); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); background diabetic retinopathy (Disease Ontology:DOID:13208); Behcet's disease (Disease Ontology:DOID:13241); angle-closure glaucoma (Disease Ontology:DOID:13550); cholestasis (Disease Ontology:DOID:13580); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); keratosis (Disease Ontology:DOID:161); cystitis (Disease Ontology:DOID:1679); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); brain ischemia (Disease Ontology:DOID:2316); nephrosis (Disease Ontology:DOID:2527); acatalasia (Disease Ontology:DOID:2582); pseudoxanthoma elasticum (Disease Ontology:DOID:2738); asthma (Disease Ontology:DOID:2841); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); familial Mediterranean fever (Disease Ontology:DOID:2987); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); breast adenocarcinoma (Disease Ontology:DOID:3458); toxic encephalopathy (Disease Ontology:DOID:3602); gastric adenocarcinoma (Disease Ontology:DOID:3717); pulmonary fibrosis (Disease Ontology:DOID:3770); papillary thyroid carcinoma (Disease Ontology:DOID:3969); ureteral obstruction (Disease Ontology:DOID:5199); retinal disease (Disease Ontology:DOID:5679); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); congestive heart failure (Disease Ontology:DOID:6000); fibromyalgia (Disease Ontology:DOID:631); acne (Disease Ontology:DOID:6543); amphetamine abuse (Disease Ontology:DOID:670); hepatocellular carcinoma (Disease Ontology:DOID:684); end stage renal disease (Disease Ontology:DOID:783); hyperthyroidism (Disease Ontology:DOID:7998); scabies (Disease Ontology:DOID:8295); cataract (Disease Ontology:DOID:83); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); seborrheic dermatitis (Disease Ontology:DOID:8741); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); cutaneous leishmaniasis (Disease Ontology:DOID:9111); pemphigus (Disease Ontology:DOID:9182); lichen planus (Disease Ontology:DOID:9201); phenylketonuria (Disease Ontology:DOID:9281); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); stomatitis (Disease Ontology:DOID:9637); senile cataract (Disease Ontology:DOID:9669); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719)", "pathway": " (hsa:847); (R-HSA-3299685); (R-HSA-6798695); (R-HSA-9033241); (R-HSA-9615017); (R-HSA-9841251)", "pathway_count": 6, "publication_count": 267, "publication_id_list": "10022913;10029572;10102273;10217147;10358014;10480625;10514471;10521424;10562279;10656833;10666617;10673331;10833429;10913147;10919671;10982;11018045;11101887;11134921;11139407;11139588;11237011;11507097;11518528;11546814;11728823;11779849;11781871;11886899;11912930;11931631;12239572;12446202;12456682;12559034;12578380;12665801;12717447;12777400;12829378;12885776;12950161;15044467;15046979;15064408;15280035;15317809;15545321;15596429;15858711;15890005;15927447;16401067;16615992;1668270;16750198;16783365;16840535;16854980;16880213;17007944;17275676;17519234;1763037;17707404;17726030;18083107;18088087;18358825;18359941;18703498;18712838;18936159;18984734;19197237;19208625;19219623;19542232;19584060;19608861;19632994;1999334;20070187;20166139;20178365;20367259;20690882;2071038;21215271;21385867;21393238;21536589;21554508;21967640;21976670;21980954;22002062;22057399;22371489;22493009;22544926;22645359;22747494;22869735;22910329;2308162;23152058;23164639;23186163;23454490;23455484;23650620;23665396;23963456;24028821;24040102;24235149;24275569;24715725;24865970;25016021;25047527;25418920;25538232;25576301;25810538;25854684;25892735;26086376;26138649;26154972;26220973;26344566;26374642;26375851;26992070;27397612;27426517;27452731;27547294;27597759;27600516;27726376;27862975;27920218;28063628;28218747;28228285;28467828;28514659;28521612;28611990;28765278;28787099;28832583;28834231;28904123;29242379;29314611;29317506;29391424;29393594;29437277;29493099;29535798;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30429286;30484775;30524438;30573663;30833945;31020640;31154438;31217245;31844290;31848261;32157095;32161166;32302062;32350084;32357974;32387766;32488085;32897882;32938616;32938750;32983136;33043033;33091337;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34357683;3457020;34932366;35051231;35154160;35251023;35254053;35318648;3532102;35580925;3619451;36241641;36284347;36581221;3693360;3755525;3755526;37670044;37759451;37938771;38285782;38424181;38665916;39079473;39531497;40307207;40596516;5389100;60;6286671;6548744;6961438;7021796;7172448;7487923;7719337;7790377;7882369;807573;8282800;8379940;8428933;8452552;8455624;8663465;8692836;8769411;8824437;8858165;8991089;9090381;9090382;9090383;9295278;9369223;9539740;9639555;9653144;9668159;9726962;9837948;9923614", "class_list": "", "function": "A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease)., [RefSeq, PubMed]; Catalyzes the degradation of hydrogen peroxide (H(2)O(2)) generated by peroxisomal oxidases to water and oxygen, thereby protecting cells from the toxic effects of hydrogen peroxide (PubMed:7882369). Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells (PubMed:7882369)., [UniProtKB, PubMed]; Differences in catalase levels between malaria-infected individuals and uninfected controls: a systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Non-Alcoholic Fatty Liver Disease Is Associated with a Decreased Catalase (CAT) Level, CT Genotypes and the T Allele of the -262 C/T CAT Polymorphism. Publication Status: Online-Only, [RefSeq, PubMed]; Parkin inhibits proliferation and migration of bladder cancer via ubiquitinating Catalase. Publication Status: Online-Only, [RefSeq, PubMed]; Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase (rs794316, rs1001179) SNPs and their Association with Breast Cancer Risk: Findings from a Hospital Based Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 77, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K6C0;B2RCZ9;D3DR07;Q2M1U4;Q4VXX5;Q9BWT9;Q9UC85", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": 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{ "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "1.4.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.1", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0004046 aminoacylase activity;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane", "go_biological_process": "GO:0010288 response to lead ion;GO:0043066 negative regulation of apoptotic process;GO:0045471 response to ethanol;GO:0001666 response to hypoxia;GO:0042542 response to hydrogen peroxide", "synthesized_glycan_count": 0, "hit_score": 29.2, "record_id": "P04040-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05937-1", "uniprot_id": [ { "id": "CALB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05937", "type": "external" } ], "mass": 30025.0, "length": 261, "protein_name": "Calbindin", "gene_name": "CALB1", "organism": "Human", "refseq_name": "calbindin isoform 1", "refseq_ac": [ { "id": "NP_004920", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004920", "type": "external" } ], "gene_names_uniprotkb": "CALB1; CAB27", "gene_names_refseq": "CALB1; CALB; D-28K", "protein_names_uniprotkb": "Calbindin; Calbindin D28; D-28K; Vitamin D-dependent calcium-binding protein, avian-type", "protein_names_refseq": "RTVL-H protein; calbindin 1, (28kD); calbindin 1, 28kDa; calbindin 27; calbindin D28; calbindin isoform 1; calbindin-D28k; vitamin D-dependent calcium-binding protein, avian-type", "tax_id": 9606, "disease": "pre-eclampsia (Disease Ontology:DOID:10591); gestational diabetes (Disease Ontology:DOID:11714); alcohol use disorder (Disease Ontology:DOID:1574); bilirubin metabolic disorder (Disease Ontology:DOID:2741)", "pathway": " (hsa:793); (R-HSA-977225)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10097139;10319874;10391242;10411933;10583407;10956649;11237011;11278841;11401442;11467836;11590439;118839;12454989;12684061;1270801;14506261;14567678;15064394;15962837;16174740;16799559;17425515;18065497;18070888;1837051;18449172;18484335;1849145;19011241;19658395;19828817;20676056;20807650;2118650;2195544;22065755;22131221;23813966;2409350;24833601;24893886;25523424;2565876;26018760;26417681;26668317;26686862;26807092;279930;2900981;29557506;29741879;30289411;3035556;3053705;3080684;3094007;31222486;3142462;31844290;32157095;32938616;33924468;35051231;35580925;36012633;3675579;3691519;37192000;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427", "class_list": "", "function": "Brain CHID1 Expression Correlates with NRGN and CALB1 in Healthy Subjects and AD Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide phosphodiesterase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Expression of the Calcium-Binding Protein CALB1 Is Induced and Controls Intracellular Ca(2+) Levels in Senescent Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Human endogenous retrovirus onco-exaptation counters cancer cell senescence through calbindin. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R696;B7Z9J4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0005499 vitamin D binding;GO:0099567 calcium ion binding involved in regulation of postsynaptic cytosolic calcium ion concentration;GO:0099534 calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0044305 calyx of Held;GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0007614 short-term memory;GO:0048167 regulation of synaptic plasticity;GO:0010996 response to auditory stimulus;GO:0010842 retina layer formation;GO:0007616 long-term memory", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P05937-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07711-1", "uniprot_id": [ { "id": "CATL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P07711", "type": "external" } ], "mass": 37564.0, "length": 333, "protein_name": "Procathepsin L", "gene_name": "CTSL", "organism": "Human", "refseq_name": "procathepsin L isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001244900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244900", "type": "external" } ], "gene_names_uniprotkb": "CTSL; CTSL1", "gene_names_refseq": "CATL; CTSL1; CTSL; MEP", "protein_names_uniprotkb": "Procathepsin L; 3.4.22.15; Cathepsin L1; MEP; Major excreted protein", "protein_names_refseq": "cathepsin L1; major excreted protein; procathepsin L isoform 1 preproprotein; procathepsin L", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); otitis media (Disease Ontology:DOID:10754); nephrotic syndrome (Disease Ontology:DOID:1184); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); alcohol use disorder (Disease Ontology:DOID:1574); brain ischemia (Disease Ontology:DOID:2316); pancreatitis (Disease Ontology:DOID:4989); hepatocellular carcinoma (Disease Ontology:DOID:684); muscular atrophy (Disease Ontology:DOID:767); hyperthyroidism (Disease Ontology:DOID:7998); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:1514); (R-HSA-1236977); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1679131); (R-HSA-2022090); (R-HSA-2024096); (R-HSA-2132295); (R-HSA-8939242); (R-HSA-9678110); (R-HSA-9694614); (R-HSA-9766229); (R-HSA-9958810)", "pathway_count": 13, "publication_count": 352, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10049780;10064083;10072072;10229672;10386589;10446189;10466419;10468607;10480952;10540230;10551873;10593899;10596943;10631941;10631952;10639150;10706100;10716919;10748235;10809722;10809954;10966814;10986281;11013208;11027606;11119712;11237011;11247303;11375993;11529500;11577169;11684289;11790530;11813165;11853874;11872628;11927537;12078484;12198549;12213822;12441129;12482924;12504904;12579531;12727852;12742663;12748383;12754519;12809493;12843408;12927802;1400327;14517306;14602708;14647384;14716310;14731593;14973287;15005656;15010527;15099520;15140961;15163706;15226270;15234972;15257288;15265795;15474033;15591058;15647514;15749704;15837520;15911768;15950618;15958533;16081529;16133547;16151907;16166518;16181339;16242130;16335952;16339146;16415873;1649600;16618111;16631740;16824007;16825197;16825321;16857668;16960811;16962401;16973841;1698775;17033958;1704217;1707285;17088321;17142755;17275357;17283181;17332331;17354228;17452530;17608959;17686471;18046453;18082565;18166152;18268517;18292509;18305481;18434311;18509083;18562523;18622425;18653540;18658137;18802471;18820679;18931679;19010778;19079358;19159218;19321428;19451267;1946389;19498108;1956401;19564404;19571574;19657146;19693541;19714641;19918052;19965672;2005102;20142769;20560209;20560210;20576607;20650889;20855885;20865800;20926566;21030783;21068237;21116285;2121367;2122463;21297635;21325420;21398612;21402738;21441454;21441952;21593211;21604257;21670566;2169335;21723253;21784848;21864727;2190094;21935455;22159414;22164301;22223641;22241472;22323579;22382088;22496216;2253219;22661428;22816037;22905912;23034403;23035980;2307289;23090970;23105391;23845380;2391366;24190977;24227843;25253721;2537292;2548603;2551898;25576301;25645385;26280083;26311884;26791533;26953343;26992070;27277342;27397612;27550352;27862975;28278510;2834383;2835398;2845110;29356040;29391424;29557506;29741879;30059200;3038863;30425301;30429286;31154438;31611695;31844290;32125455;32142651;32149769;32157095;32179150;32221306;3223920;32345140;32350084;32361028;32362314;32387766;32512386;32532959;32653452;32703818;32855215;32938616;32970989;32983136;32995803;33043033;33082293;33082294;33298900;33303459;33309272;33392160;3342889;33493182;33493263;33494095;33497607;33554856;33592498;33609497;33774649;33968037;34023935;34052578;34087483;34159616;34179075;3421948;34235261;34235568;34324210;34431042;34510494;34542788;34561887;34611326;34732583;34782609;34846842;34929169;35051231;35251023;35254053;35318648;35343766;3545185;35494076;3550705;35561310;35580925;36215666;36241641;36284347;36382580;37074911;37738239;37938771;37990007;38665916;38944813;38964470;40596516;6258630;6270089;6694361;7075587;7481823;7493035;7547873;7592972;7650016;7667286;7890717;8046351;8134367;8145819;8148318;8207089;8226919;8313912;8344253;8397411;8415765;8463259;8576151;8626565;8642258;8687433;8776591;8849454;8896443;8909537;8920930;8939989;8947036;8999957;9008168;9065415;9075930;9092507;9115292;9141479;9148753;9202021;9285796;9311912;9312039;9461298;9468501;9497313;9539769;9545226;9571245;9606180;9651395;9799232;9852107;9856810", "class_list": "", "function": "(Microbial infection) In cells lacking TMPRSS2 expression, facilitates human coronaviruses SARS-CoV and SARS-CoV-2 infections via a slow acid-activated route with the proteolysis of coronavirus spike (S) glycoproteins in lysosome for entry into host cell (PubMed:16339146, PubMed:18562523, PubMed:32142651, PubMed:32221306, PubMed:37990007). Proteolysis within lysosomes is sufficient to activate membrane fusion by coronaviruses SARS-CoV and EMC (HCoV-EMC) S as well as Zaire ebolavirus glycoproteins (PubMed:16081529, PubMed:18562523, PubMed:26953343)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cathepsin L induces cellular senescence by upregulating CUX1 and p16[INK4a]., [RefSeq, PubMed]; Functions in the regulation of cell cycle progression through proteolytic processing of the CUX1 transcription factor (PubMed:15099520). Translation initiation at downstream start sites allows the synthesis of isoforms that are devoid of a signal peptide and localize to the nucleus where they cleave the CUX1 transcription factor and modify its DNA binding properties (PubMed:15099520)., [UniProtKB, PubMed]; Large-scale whole exome sequencing studies identify two genes,CTSL and APOE, associated with lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Methyltransferase-like 3 promotes cervical cancer metastasis by enhancing cathepsin L mRNA stability in an N6-methyladenosine-dependent manner., [RefSeq, PubMed]; Novel proteolytic activation of Ebolavirus glycoprotein GP by TMPRSS2 and cathepsin L at an uncharted position can compensate for furin cleavage., [RefSeq, PubMed]; The protein encoded by this gene is a lysosomal cysteine proteinase that plays a major role in intracellular protein catabolism. Its substrates include collagen and elastin, as well as alpha-1 protease inhibitor, a major controlling element of neutrophil elastase activity. The encoded protein has been implicated in several pathologic processes, including myofibril necrosis in myopathies and in myocardial ischemia, and in the renal tubular response to proteinuria. This protein, which is a member of the peptidase C1 family, is a dimer composed of disulfide-linked heavy and light chains, both produced from a single protein precursor. Additionally, this protein cleaves the S1 subunit of the SARS-CoV-2 spike protein, which is necessary for entry of the virus into the cell. [provided by RefSeq, Aug 2020]., [RefSeq]; Thiol protease important for the overall degradation of proteins in lysosomes (Probable). Plays a critical for normal cellular functions such as general protein turnover, antigen processing and bone remodeling. Involved in the solubilization of cross-linked TG/thyroglobulin and in the subsequent release of thyroid hormone thyroxine (T4) by limited proteolysis of TG/thyroglobulin in the thyroid follicle lumen (By similarity). In neuroendocrine chromaffin cells secretory vesicles, catalyzes the prohormone proenkephalin processing to the active enkephalin peptide neurotransmitter (By similarity). In thymus, regulates CD4(+) T cell positive selection by generating the major histocompatibility complex class II (MHCII) bound peptide ligands presented by cortical thymic epithelial cells. Also mediates invariant chain processing in cortical thymic epithelial cells (By similarity). Major elastin-degrading enzyme at neutral pH. Accumulates as a mature and active enzyme in the extracellular space of antigen presenting cells (APCs) to regulate degradation of the extracellular matrix in the course of inflammation (By similarity). Secreted form generates endostatin from COL18A1 (PubMed:10716919). Critical for cardiac morphology and function. Plays an important role in hair follicle morphogenesis and cycling, as well as epidermal differentiation (By similarity). Required for maximal stimulation of steroidogenesis by TIMP1 (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 12, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6IAV1;Q96QJ0", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.22.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.43", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "type": "external" }, { "id": "3.4.24.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.23", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "3.4.23.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.34", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.4.24.65", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.65", "type": "external" }, { "id": "3.4.22.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.42", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.22.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.34", "type": "external" }, { "id": "3.4.17.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.23", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.22.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.41", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0005518 collagen binding;GO:0042393 histone binding;GO:0043394 proteoglycan binding;GO:0001968 fibronectin binding;GO:0004197 cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II;GO:0002250 adaptive immune response;GO:0046718 symbiont entry into host cell;GO:0016540 protein autoprocessing", "synthesized_glycan_count": 0, "hit_score": 38.1, "record_id": "P07711-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7I6-2", "uniprot_id": [ { "id": "CC159_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7I6", "type": "external" } ], "mass": 33695.0, "length": 297, "protein_name": "Coiled-coil domain-containing protein 159", "gene_name": "CCDC159", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 159", "refseq_ac": [ { "id": "NP_001073972", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073972", "type": "external" } ], "gene_names_uniprotkb": "CCDC159", "gene_names_refseq": "CCDC159", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 159", "protein_names_refseq": "coiled-coil domain-containing protein 159", "tax_id": 9606, "disease": "male infertility due to acephalic spermatozoa (Disease Ontology:DOID:0112311)", "pathway": " (hsa:126075)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "29557506;29786170;31844290;35494241", "class_list": "", "function": "Functions during spermatid development; may participate in the centrosome reduction procedure of spermatids and is required for the formation of the connecting piece/sperm head-tail coupling apparatus (HTCA) and the correct and tight attachment of the flagellum to the nuclear envelope., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DEG3;B4DWR8;B4E133;B7ZAM4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C7I6-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7W6-1", "uniprot_id": [ { "id": "CC172_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7W6", "type": "external" } ], "mass": 31035.0, "length": 258, "protein_name": "Coiled-coil domain-containing protein 172", "gene_name": "CCDC172", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 172", "refseq_ac": [ { "id": "NP_940917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940917", "type": "external" } ], "gene_names_uniprotkb": "CCDC172; C10orf96", "gene_names_refseq": "C10orf96; CCDC172", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 172", "protein_names_refseq": "UPF0628 protein C10orf96; coiled-coil domain-containing protein 172", "tax_id": 9606, "disease": "", "pathway": " (hsa:374355)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "19664994;32157095;34087483;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0097225 sperm midpiece", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C7W6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CW27-1", "uniprot_id": [ { "id": "CC166_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CW27", "type": "external" } ], "mass": 48709.0, "length": 439, "protein_name": "Coiled-coil domain-containing protein 166", "gene_name": "CCDC166", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 166", "refseq_ac": [ { "id": "NP_001156386", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156386", "type": "external" } ], "gene_names_uniprotkb": "CCDC166", "gene_names_refseq": "CCDC166", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 166", "protein_names_refseq": "coiled-coil domain-containing protein 166", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130274)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "29557506;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0CW27-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP24-1", "uniprot_id": [ { "id": "CALM2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP24", "type": "external" } ], "mass": 16838.0, "length": 149, "protein_name": "Calmodulin-2", "gene_name": "CALM2", "organism": "Human", "refseq_name": "calmodulin-2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001292553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292553", "type": "external" } ], "gene_names_uniprotkb": "CALM2; CAM2; CAMB", "gene_names_refseq": "CALM2; CALML2; CALM; CAM1; CAM3; CAMC; CAMIII; CAMII; LQT15; PHKD2; PHKD; caM", "protein_names_uniprotkb": "Calmodulin-2", "protein_names_refseq": "Calmodulin-1; Calmodulin-3; LP7057 protein; calmodulin 2 (phosphorylase kinase, delta); calmodulin-2 isoform 1 precursor; phosphorylase kinase delta; phosphorylase kinase subunit delta 2; phosphorylase kinase subunit delta; prepro-calmodulin 2", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); long QT syndrome 15 (Disease Ontology:DOID:0110656); major depressive disorder (Disease Ontology:DOID:1470); cancer (Disease Ontology:DOID:162); substance abuse (Disease Ontology:DOID:302)", "pathway": " (hsa:801); (hsa:805); (hsa:808); (R-HSA-9948001); (R-HSA-9956593)", "pathway_count": 5, "publication_count": 85, "publication_id_list": "12871148;14654843;1474585;15592455;15746192;16127172;16760425;17719545;18650434;18669648;19608861;19690332;20466722;21406692;22223895;22484487;23109337;23186163;23388215;23516580;24129315;24275569;2445749;24917665;25119034;25582440;26164367;26969752;27165696;27516456;27564677;27876793;28593173;28657654;29024643;29144452;29177860;30315122;30444036;30573663;30626607;30692621;30779550;30833945;31216343;31222486;31530632;31848261;31998317;32109412;32157095;32161166;32581219;32897882;32938616;32983136;33691108;33968037;33981976;3415247;34357683;34509645;34561969;34671164;34916628;34932366;35051231;35154160;35318648;35338844;35446120;35561310;35568036;35580925;36010968;36241641;36423631;36624349;37470336;37558421;38297121;38754328;7093203;9681195;9804419", "class_list": "", "function": "(Microbial infection) Required for C.violaceum CopC and S.flexneri OspC3 arginine ADP-riboxanase activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; 5 novel de novo CALM2 mutations in association with long-QT syndrome and exertioninduced arrhythmias.(p.N98S, p.N98I, p.D134H, p.D132E, p.Q136P), [RefSeq, PubMed]; Calmodulin 2 expression is associated with poor prognosis in breast cancer., [RefSeq, PubMed]; Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:26969752, PubMed:27165696). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:26969752, PubMed:27165696, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin-dependent protein kinase type II (CaMK2), and phosphatases (PubMed:16760425, PubMed:26969752, PubMed:27165696, PubMed:35568036). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425). Mediates calcium-dependent inactivation of CACNA1C (PubMed:26969752). Positively regulates calcium-activated potassium channel activity of KCNN2 (PubMed:27165696)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MicroRNA-651-5p affects the proliferation, migration, and invasion of lung cancer cells by regulating Calmodulin 2 expression., [RefSeq, PubMed]; This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level. Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation. Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family (PMID:23388215). Mutations in this gene have also been identified in patients with less severe forms of LQTS (PMID:24917665), while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT)(PMID:23040497), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals. Pseudogenes of this gene are found on chromosomes 10, 13, and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P02593;P62158;P70667;P99014;Q13942;Q53S29;Q61379;Q61380;Q96HK3", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0048306 calcium-dependent protein binding;GO:0005246 calcium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0044305 calyx of Held;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0097720 calcineurin-mediated signaling;GO:0007186 G protein-coupled receptor signaling pathway;GO:0051592 response to calcium ion;GO:0021762 substantia nigra development;GO:1905913 negative regulation of calcium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P0DP24-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP25-1", "uniprot_id": [ { "id": "CALM3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP25", "type": "external" } ], "mass": 16838.0, "length": 149, "protein_name": "Calmodulin-3", "gene_name": "CALM3", "organism": "Human", "refseq_name": "calmodulin-3 isoform 1", "refseq_ac": [ { "id": "NP_001316851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316851", "type": "external" } ], "gene_names_uniprotkb": "CALM3; CALML2; CAM3; CAMC; CAMIII", "gene_names_refseq": "CALM3; CALM; CAM1; CAM2; CAMB; CPVT6; CaMIII; CaM; HEL-S-72; LQT16; PHKD3; PHKD", "protein_names_uniprotkb": "Calmodulin-3", "protein_names_refseq": "Calmodulin-1; Calmodulin-2; calmodulin-3 isoform 1; epididymis secretory protein Li 72; phosphorylase kinase subunit delta 3; phosphorylase kinase subunit delta; prepro-calmodulin 3", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); long QT syndrome 16 (Disease Ontology:DOID:0070533); familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:801); (hsa:805); (hsa:808); (R-HSA-9948001); (R-HSA-9956593)", "pathway_count": 5, "publication_count": 110, "publication_id_list": "12871148;14654843;1474585;15592455;15746192;16127172;16760425;17719545;18292551;18650434;18669648;18991276;19531498;19608861;19615748;19690332;20466722;21406692;22223895;2223880;22484487;22706990;23109337;23186163;23328677;23516580;23783831;24129315;24275569;24366607;24714562;25119034;25460178;25502872;25505266;25576301;25582440;25645385;26154972;26992070;27397612;27452731;27516456;27564677;27600516;27846572;27862975;27876793;27920218;28218747;28228285;28467828;28514659;28593173;28657654;28832583;28904123;29024643;29144452;29177860;29242379;29331515;29393594;29508533;29557506;29632711;29786170;29789417;30192525;30444036;30524438;30692621;31216343;31222486;31454269;3182832;31844290;32109412;32502341;32581219;33043033;33091337;33123756;33141586;33214551;33392160;33592498;33717175;33912179;33936100;34019948;34087483;3415247;34171305;34357683;34433824;34671164;34916628;35338844;35446120;35568036;36423631;36624349;37380439;37558421;37932969;37938771;38297121;7093203;9804419", "class_list": "", "function": "(Microbial infection) Required for C.violaceum CopC and S.flexneri OspC3 arginine ADP-riboxanase activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; CALM3 affects the prognosis of leukemia and hemorrhoids., [RefSeq, PubMed]; Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding (PubMed:16760425, PubMed:31454269). Calcium-binding is required for the activation of calmodulin (PubMed:16760425, PubMed:31454269, PubMed:35568036). Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin-dependent protein kinase type II (CaMK2), and phosphatases (PubMed:16760425, PubMed:35568036). Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis (PubMed:16760425)., [UniProtKB, PubMed, PubMed, PubMed]; Calmodulinopathy in Japanese Children - Their Cardiac Phenotypes Are Severe and Show Early Onset in Fetal Life and Infancy., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that binds calcium and functions as a enzymatic co-factor. Activity of this protein is important in the regulation of the cell cycle and cytokinesis. Multiple alternatively spliced transcript variants have been observed at this gene. [provided by RefSeq, Aug 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P02593;P62158;P70667;P99014;Q13942;Q53S29;Q61379;Q61380;Q96HK3", "ec_number_list": [], "go_molecular_function": "GO:0031800 type 3 metabotropic glutamate receptor binding;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0048306 calcium-dependent protein binding;GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0044305 calyx of Held;GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0097720 calcineurin-mediated signaling;GO:1901842 negative regulation of high voltage-gated calcium channel activity;GO:0090151 establishment of protein localization to mitochondrial membrane;GO:0007186 G protein-coupled receptor signaling pathway;GO:0051592 response to calcium ion", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "P0DP25-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14091-1", "uniprot_id": [ { "id": "CATE_HUMAN", "url": "https://www.uniprot.org/uniprot/P14091", "type": "external" } ], "mass": 42794.0, "length": 396, "protein_name": "Cathepsin E", "gene_name": "CTSE", "organism": "Human", "refseq_name": "cathepsin E isoform c", "refseq_ac": [ { "id": "NP_001304260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304260", "type": "external" } ], "gene_names_uniprotkb": "CTSE", "gene_names_refseq": "CATE; CTSE", "protein_names_uniprotkb": "Cathepsin E; 3.4.23.34", "protein_names_refseq": "cathepsin E isoform c; erythrocyte membrane aspartic proteinase; slow-moving proteinase", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:1510); (R-HSA-2132295)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10036229;10064083;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11237011;11322887;11529500;11684289;11790530;11813165;11853874;12078484;12198549;12531480;12742663;12748383;1370478;14731593;15749704;15911768;16181339;16242130;16618111;16824007;17142755;17283181;18046453;18292509;1956401;19564404;21116285;2121367;21441454;21664991;2190094;2334440;2391366;25239563;25348778;2674141;29557506;30278264;31844290;32157095;32387766;32983136;33912179;35051231;35181976;35580925;36284347;7481823;7592972;7650016;7667286;7789521;7983070;8046351;8134367;8145819;8148318;8313912;8346912;8397411;8415765;8642258;8687433;8765029;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180", "class_list": "", "function": "Cathepsin E, mitochondrial fission, and caspase activation/apoptosis are linked in the pathogenesis of pulmonary emphysema., [RefSeq, PubMed]; Emerging roles of cathepsin E in immune system cells and skin keratinocytes, and in host defense against cancer cells. Review article, [RefSeq, PubMed]; High Expression of Cathepsin E is associated with Tissues but Not Blood of Patients with Barrett's Esophagus and Adenocarcinoma., [RefSeq, PubMed]; Higher contents of cathepsin A, D, and E in the wall of the aortic aneurysms and a positive correlation between the concentration of cathepsin A and D and the width of the aneurysmal widening, suggests the participation of these enzymes in the pathogenesis of the aneurysm., [RefSeq, PubMed]; May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Microglial cathepsin E plays a role in neuroinflammation and amyloid beta production in Alzheimer's disease., [RefSeq, PubMed]; This gene encodes a member of the A1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature enzyme. This enzyme, an aspartic endopeptidase, may be involved in antigen processing and the maturation of secretory proteins. Elevated expression of this gene has been observed in neurodegeneration. [provided by RefSeq, Nov 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5TZ01;Q5TZ02;Q9NY58;Q9UCE3;Q9UCE4", "ec_number_list": [ { "id": "3.4.22.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.43", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "3.4.23.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.4.22.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.42", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.4.22.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.41", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0008233 peptidase activity;GO:0004190 aspartic-type endopeptidase activity", "go_cellular_component": "GO:0005768 endosome", "go_biological_process": "GO:0006508 proteolysis;GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P14091-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27482-1", "uniprot_id": [ { "id": "CALL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P27482", "type": "external" } ], "mass": 16891.0, "length": 149, "protein_name": "Calmodulin-like protein 3", "gene_name": "CALML3", "organism": "Human", "refseq_name": "calmodulin-like protein 3", "refseq_ac": [ { "id": "NP_005176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005176", "type": "external" } ], "gene_names_uniprotkb": "CALML3", "gene_names_refseq": "CALML3; CLP", "protein_names_uniprotkb": "Calmodulin-like protein 3; CLP; CaM-like protein; Calmodulin-related protein NB-1", "protein_names_refseq": "caM-like protein; calmodulin-like protein 3; calmodulin-related protein NB-1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:810)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11278607;12067719;1334432;18295593;2217169;24029068;26992070;28228285;28821270;29436594;29445139;29557506;30192525;30320344;3181418;31844290;32502341;33592498;33717175;33981976;34171305;35051231", "class_list": "", "function": "Loss of CALML3 predicts shorter overall and relapse-free survival in postoperative hepatocellular carcinoma (HCC) patients, thus providing a prognostic biomarker and therapy target in HCC. Publication Status: Online-Only, [RefSeq, PubMed]; May function as a specific light chain of unconventional myosin-10 (MYO10), also enhances MYO10 translation, possibly by acting as a chaperone for the emerging MYO10 heavy chain protein. May compete with calmodulin by binding, with different affinities, to cellular substrates., [UniProtKB, PubMed, PubMed]; Metformin suppresses gastric cancer through stimulating Calml3 secretion from TAFs., [RefSeq, PubMed]; UVB irradiation induced increase in apoptosis, Reactive Oxygen Species production and Ca2+ concentration of human lens epithelial cells , in part, by downregulating the expression of CALML3 and involved oxidative stress, Ca2+, JNK1/2 and ERK1/2 signaling pathways, suggesting that investigating CALML3 may useful for developing cataract treatment., [RefSeq, PubMed]; We identified calmodulin-like protein 3 (CALML3) as a key sensor of this SNP and a coregulator of ERalpha, which contributes to differential gene transcription regulation in an estrogen and SERM-dependent fashion. Furthermore, using CRISPR/Cas9-engineered ZR75-1 breast cancer cells with different ZNF423 SNP genotypes, striking differences in cellular responses to SERMs and PARP inhibitors, alone or in combination Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9V6;Q5SQI4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0043209 myelin sheath;GO:0070062 extracellular exosome", "go_biological_process": "GO:0097720 calcineurin-mediated signaling;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;GO:0005513 detection of calcium ion", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P27482-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30988-2", "uniprot_id": [ { "id": "CALCR_HUMAN", "url": "https://www.uniprot.org/uniprot/P30988", "type": "external" } ], "mass": 55345.0, "length": 474, "protein_name": "Calcitonin receptor", "gene_name": "CALCR", "organism": "Human", "refseq_name": "calcitonin receptor isoform 2 precursor", "refseq_ac": [ { "id": "NP_001158210", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158210", "type": "external" } ], "gene_names_uniprotkb": "CALCR", "gene_names_refseq": "CALCR; CRT; CT-R; CTR1; CTR", "protein_names_uniprotkb": "Calcitonin receptor; CT-R", "protein_names_refseq": "calcitonin receptor isoform 2 precursor", "tax_id": 9606, "disease": "osteoporosis (Disease Ontology:DOID:11476)", "pathway": " (hsa:799); (R-HSA-418555); (R-HSA-419812)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10217420;10570950;10860825;11007482;11693189;12036966;12058044;12106601;12180353;12860470;1331173;13549488;14615490;14671004;14722252;15086532;1517224;15340161;15563840;15765929;15769620;15951850;16313925;16687412;16923326;17168849;17665333;18044684;18577758;19105585;19876791;19929708;20381629;20573757;21036126;2163110;2177866;22946511;23153230;24169554;2417744;24687066;2491850;25297013;2553411;2553705;2608057;26417854;26432182;26559125;27893789;28614667;2871555;29171818;29255900;29443750;29602314;2985435;30429286;30833991;3127824;31279028;31311674;31399091;31556018;31800988;31983287;32035902;32145209;32226383;32266704;32497535;32540603;32618402;32636324;32715661;32851644;33049737;35324283;36834780;37543479;38603770;38985127;6085243;6148938;6609312;7476993;7588285;7720653;7733946;8078488;8143880;8340388;8387282;8514797;8626685;8672451;9212325;9263355;9417641;9571205;9620797;9651336;9675109;9817931", "class_list": "", "function": "CALCR exacerbates renal cell carcinoma progression via stabilizing CD44., [RefSeq, PubMed]; Calcitonin/PAC1 receptor splice variants: a blind spot in migraine research. Review article, [RefSeq, PubMed]; G protein-coupled receptor activated by ligand peptides amylin (IAPP), calcitonin (CT/CALCA) and calcitonin gene-related peptide type 1 (CGRP1/CALCA) (PubMed:35324283, PubMed:38603770). CALCR interacts with receptor-activity-modifying proteins RAMP1, 2 and 3 to form receptor complexes AMYR1, 2 and 3, respectively (PubMed:35324283, PubMed:38603770). IAPP, CT and CGRP1 activate CALCR and AMYRs with distinct modes of receptor activation resulting in specific phenotypes (PubMed:35324283, PubMed:38603770). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors. Activates cAMP-dependent pathway (PubMed:35324283, PubMed:7476993)., [UniProtKB, PubMed, PubMed, PubMed]; Non-functional protein. Unable to couple to G proteins and activate adenylyl cyclase (PubMed:7476993). Does not undergo receptor internalization following ligand binding (PubMed:7476993)., [UniProtKB, PubMed]; Polymorphisms in Genes Encoding VDR, CALCR and Antioxidant Enzymes as Predictors of Bone Tissue Condition in Young, Healthy Men. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A0A0C4DG16;A4D1G6;F5H605;O14585;Q13941;Q5ZGL8;Q659U6;Q6DJU8;Q6T712", "ec_number_list": [], "go_molecular_function": "GO:0001540 amyloid-beta binding;GO:0004948 calcitonin receptor activity;GO:0032841 calcitonin binding;GO:0001635 calcitonin gene-related peptide receptor activity;GO:0097643 amylin receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0030424 axon;GO:0001669 acrosomal vesicle;GO:0150058 amylin receptor complex 3", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0010628 positive regulation of gene expression;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "P30988-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35218-1", "uniprot_id": [ { "id": "CAH5A_HUMAN", "url": "https://www.uniprot.org/uniprot/P35218", "type": "external" } ], "mass": 34750.0, "length": 305, "protein_name": "Carbonic anhydrase 5A, mitochondrial", "gene_name": "CA5A", "organism": "Human", "refseq_name": "carbonic anhydrase 5A, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001730", "type": "external" } ], "gene_names_uniprotkb": "CA5A; CA5", "gene_names_refseq": "CA5AD; CA5A; CA5; CAVA; CAV; GS1-21A4.1", "protein_names_uniprotkb": "Carbonic anhydrase 5A, mitochondrial; 4.2.1.1; CA-VA; Carbonate dehydratase VA; Carbonic anhydrase VA", "protein_names_refseq": "CA-VA; carbonate dehydratase VA; carbonic anhydrase 5A, mitochondrial isoform 1 precursor; carbonic anhydrase 5A, mitochondrial; carbonic anhydrase V, mitochondrial; carbonic anhydrase VA, mitochondrial; carbonic dehydratase", "tax_id": 9606, "disease": "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (MONDO:MONDO:0014332)", "pathway": " (hsa:763); (R-HSA-1475029)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10409679;11121027;11237011;11676494;120192;14611844;15501038;1554744;16006130;16302824;16686544;16807956;17127057;17228881;17314045;17427958;17499996;17761422;18162396;18294854;18618712;18703501;19186056;19206230;20349499;20493921;20578724;20877624;2111324;21282642;2169869;22001224;234739;24530203;26913920;29557506;3080418;32897882;33592498;35051231;36464834;4994926;6407977;6433979;6819139;7490083;7625839;8083199;8356065;8399223;9054574;9336012;9635771;9784398", "class_list": "", "function": "CA5A alterations cause hyperammonemia in early childhood that result in mitochondrial carbonic anhydrase VA deficiency, [RefSeq, PubMed]; Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]., [RefSeq]; In 10 of 96 patients, mutations in CA5A were identified on both alleles but none in CA5B. Exhibiting decreased enzyme activity or thermal stability, all CAVA mutations were proven to cause disease, whereas the three variants showed no relevant effect Erratum:[Genet Med. 2016 Jun;18(6):649. doi: 10.1038/gim.2016.46. PMID: 27304993], [RefSeq, PubMed]; Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease. Review article, [RefSeq, PubMed]; Mitochondrial carbonic anhydrase that catalyzes the reversible conversion of carbon dioxide to bicarbonate/HCO3 (PubMed:24530203, PubMed:8356065). Mitochondria are impermeable to HCO3, and thus this intramitochondrial carbonic anhydrase is pivotal in providing HCO3 for multiple mitochondrial enzymes that catalyze the formation of essential metabolites of intermediary metabolism in the urea and Krebs cycles (PubMed:24530203)., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Reversible hydration of carbon dioxide., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RPF2", "ec_number_list": [ { "id": "4.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.1", "type": "external" }, { "id": "4.2.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.69", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004089 carbonate dehydratase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P35218-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42575-1", "uniprot_id": [ { "id": "CASP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P42575", "type": "external" } ], "mass": 50685.0, "length": 452, "protein_name": "Caspase-2", "gene_name": "CASP2", "organism": "Human", "refseq_name": "caspase-2 isoform 2", "refseq_ac": [ { "id": "NP_001215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001215", "type": "external" } ], "gene_names_uniprotkb": "CASP2; ICH1; NEDD2", "gene_names_refseq": "CASP-2; CASP2; ICH1; MRT80; NEDD-2; NEDD2; PPP1R57", "protein_names_uniprotkb": "Caspase-2; 3.4.22.55; CASP-2; NEDD-2; Neural precursor cell expressed developmentally down-regulated protein 2; Protease ICH-1", "protein_names_refseq": "caspase 2 apoptosis-related cysteine peptidase; caspase-2 isoform 2; neural precursor cell expressed developmentally down-regulated protein 2; protease ICH-1; protein phosphatase 1, regulatory subunit 57", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308); Alzheimer's disease (Disease Ontology:DOID:10652); status epilepticus (Disease Ontology:DOID:1824); testicular cancer (Disease Ontology:DOID:2998); temporal lobe epilepsy (Disease Ontology:DOID:3328); intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly (MONDO:MONDO:0957999)", "pathway": " (hsa:835); (R-HSA-168638); (R-HSA-205025); (R-HSA-6803207)", "pathway_count": 4, "publication_count": 132, "publication_id_list": "10224040;10329646;10393175;10702308;10764727;10973264;11087742;11156409;11237011;11278253;11278287;11390368;11460167;11559530;11717445;11830582;12089322;12198154;12514169;12527755;12584573;12598307;12791997;12796777;12917691;12920126;1373520;14514672;14633987;14688482;15073321;15327770;15580302;15620648;16135520;16183742;16193064;16652156;17047224;17284521;17303577;17496917;17562858;17627033;18079694;19203584;19535145;19651622;19730412;20068231;20158568;20300203;20303873;21406692;22854598;23186163;23481700;23703390;24715725;25528640;25576301;25892735;26154972;26992070;27600516;27920218;28228285;28649982;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30429286;31217245;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32811973;32897882;32938616;32983136;33011746;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37880421;39239896;40914422;8087842;8242741;8654923;8985253;9044836;9430721;9560245;9744859", "class_list": "", "function": "Acts as a negative regulator of apoptosis., [UniProtKB, PubMed]; Acts as a positive regulator of apoptosis., [UniProtKB, PubMed]; Apoptotic endonuclease EndoG induces alternative splicing of Caspase-2. Review article, [RefSeq, PubMed]; Caspase-2 gene: alternative promoters, pre-mRNA splicing and AUG usage direct isoform-specific expression, [RefSeq, PubMed]; Data suggest that caspase 2-mediated programmed cell death participates in the seizure-induced degenerative process in experimental and human TLE., [RefSeq, PubMed]; Is a regulator of the cascade of caspases responsible for apoptosis execution (PubMed:11156409, PubMed:15073321, PubMed:8087842). Might function by either activating some proteins required for cell death or inactivating proteins necessary for cell survival (PubMed:15073321). Associates with PIDD1 and CRADD to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis in response to genotoxic stress (PubMed:15073321)., [UniProtKB, PubMed, PubMed, PubMed]; May function as an endogenous apoptosis inhibitor that antagonizes caspase activation and cell death., [UniProtKB, PubMed]; The short isoform is overexpressed in macrophage-derived foam cells of human atherosclerotic plaques, [RefSeq, PubMed]; This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]., [RefSeq]; This review discusses recent advances that have been made to help elucidate the true role of caspase 2 and the potential contribution of caspase-2 to the pathology of human diseases including cancer. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5F9;D3DXD6;E9PDN0;P42576;Q59F21;Q7KZL6;Q86UJ3;Q9BUP7;Q9BZK9;Q9BZL0", "ec_number_list": [ { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "type": "external" }, { "id": "3.4.22.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.56", "type": "external" }, { "id": "3.4.22.55", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.55", "type": "external" }, { "id": "3.4.22.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.57", "type": "external" }, { "id": "3.4.22.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.62", "type": "external" }, { "id": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0019899 enzyme binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0004197 cysteine-type endopeptidase activity;GO:0070513 death domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0003407 neural retina development;GO:0016485 protein processing;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P42575-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43166-1", "uniprot_id": [ { "id": "CAH7_HUMAN", "url": "https://www.uniprot.org/uniprot/P43166", "type": "external" } ], "mass": 29658.0, "length": 264, "protein_name": "Carbonic anhydrase 7", "gene_name": "CA7", "organism": "Human", "refseq_name": "carbonic anhydrase 7 isoform 2", "refseq_ac": [ { "id": "NP_001014435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014435", "type": "external" } ], "gene_names_uniprotkb": "CA7", "gene_names_refseq": "CA-VII; CA7; CAVII", "protein_names_uniprotkb": "Carbonic anhydrase 7; 4.2.1.1; CA-VII; Carbonate dehydratase VII; Carbonic anhydrase VII", "protein_names_refseq": "carbonate dehydratase VII; carbonic anhydrase 7 isoform 2; carbonic anhydrase VII; carbonic dehydratase VII", "tax_id": 9606, "disease": "", "pathway": " (hsa:766); (R-HSA-1475029)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10409679;11121027;11237011;11676494;120192;14611844;15501038;1554744;16006130;16302824;16686544;16807956;17127057;17228881;17314045;17427958;17499996;17705204;17761422;1783392;18162396;18294854;18703501;19186056;19206230;20349499;20493921;20578724;2111324;21282642;2169869;22001224;234739;23851572;25885898;27688658;3080418;35051231;37895185;4994926;6407977;6433979;6819139;7625839;8083199;8356065;8399223;9054574;9336012;9635771;9784398", "class_list": "", "function": "CA II and CA XII, but not CA VII or CA IX, could be useful in predicting survival in colorectal carcinomas, [RefSeq, PubMed]; Carbonic anhydrases are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the brain and contributes to bicarbonate driven GABAergic neuron excitation. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2018]., [RefSeq]; Native hCA VII can protect cells from oxidative damage by preventing the apoptosis cascade and that cysteines play a leading role in this process, [RefSeq, PubMed]; Our results indicate that decreased expression of CA7 correlates with disease progression and predicts poor prognosis in CRC, especially for patients with early stage tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Reversible hydration of carbon dioxide., [UniProtKB]; Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures for the Early Detection of Colorectal Cancer: A Comprehensive Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q541F0;Q86YU0", "ec_number_list": [ { "id": "4.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.1", "type": "external" }, { "id": "4.2.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.69", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004089 carbonate dehydratase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051453 regulation of intracellular pH", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P43166-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43234-1", "uniprot_id": [ { "id": "CATO_HUMAN", "url": "https://www.uniprot.org/uniprot/P43234", "type": "external" } ], "mass": 35958.0, "length": 321, "protein_name": "Cathepsin O", "gene_name": "CTSO", "organism": "Human", "refseq_name": "cathepsin O preproprotein", "refseq_ac": [ { "id": "NP_001325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001325", "type": "external" } ], "gene_names_uniprotkb": "CTSO; CTSO1", "gene_names_refseq": "CTSO1; CTSO", "protein_names_uniprotkb": "Cathepsin O; 3.4.22.42", "protein_names_refseq": "cathepsin O preproprotein", "tax_id": 9606, "disease": "Zollinger-Ellison syndrome (Disease Ontology:DOID:0050782); inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Disease Ontology:DOID:0050881); primary hypomagnesemia (Disease Ontology:DOID:0060879); renal hypomagnesemia 4 (Disease Ontology:DOID:0060882); lupus nephritis (Disease Ontology:DOID:0080162); Alzheimer's disease (Disease Ontology:DOID:10652); endometrial cancer (Disease Ontology:DOID:1380); Parkinson's disease (Disease Ontology:DOID:14330); pancreatic cancer (Disease Ontology:DOID:1793); ovarian cancer (Disease Ontology:DOID:2394); acute kidney failure (Disease Ontology:DOID:3021); glioblastoma (Disease Ontology:DOID:3068); high grade glioma (Disease Ontology:DOID:3070); gallbladder cancer (Disease Ontology:DOID:3121); oligodendroglioma (Disease Ontology:DOID:3181); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); pancreatitis (Disease Ontology:DOID:4989); schizophrenia (Disease Ontology:DOID:5419); hepatocellular carcinoma (Disease Ontology:DOID:684); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677)", "pathway": " (hsa:1519); (R-HSA-2132295)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11237011;11529500;11684289;11790530;11813165;11853874;12078484;12198549;12742663;12748383;14731593;15749704;15911768;16181339;16242130;16618111;16824007;17142755;17283181;18046453;18292509;1956401;19564404;21116285;2121367;21441454;2190094;23009386;2391366;25502872;25505266;26482374;28467828;28968398;29242379;29314611;29317506;29632711;30573663;32350084;32938616;33592498;33936100;34357683;36284347;7481823;7592972;7650016;7667286;7929457;8046351;8134367;8145819;8148318;8313912;8397411;8415765;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180", "class_list": "", "function": "A single-nucleotide polymorphism near the CTSO gene is a poor prognostic factor in breast cancer although further research might help to reveal the factors linking this genotype and prognosis., [RefSeq, PubMed]; In this study, various molecular dynamics (MD) simulations of pro- and mature human cathepsins L and O were performed., [RefSeq, PubMed]; Proteolytic enzyme possibly involved in normal cellular protein degradation and turnover., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was abolished by an inhibitor of cyteine proteinase. [provided by RefSeq, Jul 2008]., [RefSeq]; We report that CTSO reduces the protein levels of BRCA1 and ZNF423 through cysteine proteinase-mediated degradation. We also have identified a series of transcription factors of BRCA1 that are regulated by CTSO at the protein level. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 22, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.4.22.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.43", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "3.4.23.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.4.22.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.42", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.4.22.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.41", "type": "external" } ], "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005764 lysosome", "go_biological_process": "GO:0006508 proteolysis;GO:0051603 proteolysis involved in protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P43234-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49662-1", "uniprot_id": [ { "id": "CASP4_HUMAN", "url": "https://www.uniprot.org/uniprot/P49662", "type": "external" } ], "mass": 43262.0, "length": 377, "protein_name": "Caspase-4", "gene_name": "CASP4", "organism": "Human", "refseq_name": "caspase-4 isoform alpha precursor", "refseq_ac": [ { "id": "NP_001216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001216", "type": "external" } ], "gene_names_uniprotkb": "CASP4; ICH2", "gene_names_refseq": "CASP-4; CASP4; ICE(rel)II; ICEREL-II; ICH-2; Mih1/TX; Mih1; TX", "protein_names_uniprotkb": "Caspase-4; 3.4.22.57; CASP-4; ICE and Ced-3 homolog 2; ICE(rel)-II; ICH-2; Mih1; Protease TX", "protein_names_refseq": "ICE and Ced-3 homolog 2; ICE(rel)-II; apoptotic cysteine protease Mih1/TX; caspase 4, apoptosis-related cysteine peptidase; caspase 4, apoptosis-related cysteine protease; caspase-4 isoform alpha precursor; protease ICH-2; protease TX", "tax_id": 9606, "disease": "", "pathway": " (hsa:837); (R-HSA-168638); (R-HSA-5620971); (R-HSA-9948001); (R-HSA-9956593); (R-HSA-9960519)", "pathway_count": 6, "publication_count": 134, "publication_id_list": "10224040;10329646;10702308;10986288;11087742;11230166;11237011;11460167;12514169;12527755;12791997;12796777;12917691;14514672;14633987;15123740;15326478;15327770;15620648;16893518;16897187;17047224;17303577;17496917;17562858;18079694;18511561;18669648;19535145;19859801;20068231;20300203;22246630;23516580;23661706;24879791;25119034;25121752;25576301;25645385;25695505;25964352;26154972;26173988;26174085;26375003;26508369;26811146;27281216;27383986;27418190;27862975;28045099;28218747;28228285;28314590;28392147;28459430;28593173;28832583;28904123;29024643;29077095;29144452;29177860;29242379;29393594;29437277;29493099;29508533;29520027;29539421;29557506;29632711;29891674;29898893;29990470;30143555;30315122;30429286;30524438;30692621;30976076;31113851;31154438;31216343;31268602;31844290;32109412;32157095;32161166;32188940;32367036;32387766;32488085;32502341;32510692;32581219;32820063;32938616;32983136;33123756;33141586;33298915;33377178;33592498;33717175;33936100;33968037;34171305;34357683;34671164;34916628;34932366;35051231;35318648;35338844;35580925;36010968;36284347;36624349;37001519;37014865;37558421;37938771;37993712;37993714;38139378;38459541;7743998;7797510;7797592;9430721;9744859", "class_list": "", "function": "(Microbial infection) In response to the Td92 surface protein of the periodontal pathogen T.denticola, activated by cathepsin CTSG which leads to production and secretion of IL1A and pyroptosis of gingival fibroblasts., [UniProtKB, PubMed]; Dectin-1 aggravates neutrophil inflammation through caspase-11/4-mediated macrophage pyroptosis in asthma. Publication Status: Online-Only, [RefSeq, PubMed]; Inflammation in Hypervolemic Hemodialysis Patients: The Roles of RelB and Caspase-4. Publication Status: Online-Only, [RefSeq, PubMed]; Inflammatory caspase that acts as the effector of the non-canonical inflammasome by mediating lipopolysaccharide (LPS)-induced pyroptosis (PubMed:25119034, PubMed:26375003, PubMed:32109412, PubMed:34671164, PubMed:37001519, PubMed:37993712, PubMed:37993714). Also indirectly activates the NLRP3 and NLRP6 inflammasomes (PubMed:23516580, PubMed:26375003, PubMed:32109412, PubMed:7797510). Acts as a thiol protease that cleaves a tetrapeptide after an Asp residue at position P1: catalyzes cleavage of CGAS, GSDMD and IL18 (PubMed:15326478, PubMed:23516580, PubMed:26375003, PubMed:28314590, PubMed:32109412, PubMed:37993712, PubMed:37993714, PubMed:7797510). Effector of the non-canonical inflammasome independently of NLRP3 inflammasome and CASP1: the non-canonical inflammasome promotes pyroptosis through GSDMD cleavage without involving secretion of cytokine IL1B (PubMed:25119034, PubMed:25121752, PubMed:26375003, PubMed:31268602, PubMed:32109412, PubMed:37993712, PubMed:37993714). In the non-canonical inflammasome, CASP4 is activated by direct binding to the lipid A moiety of LPS without the need of an upstream sensor (PubMed:25119034, PubMed:25121752, PubMed:29520027, PubMed:32510692, PubMed:32581219, PubMed:37993712). LPS-binding promotes CASP4 activation and CASP4-mediated cleavage of GSDMD and IL18, followed by IL18 secretion through the GSDMD pore, pyroptosis of infected cells and their extrusion into the gut lumen (PubMed:25119034, PubMed:25121752, PubMed:37993712, PubMed:37993714). Also indirectly promotes secretion of mature cytokines (IL1A and HMGB1) downstream of GSDMD-mediated pyroptosis via activation of the NLRP3 and NLRP6 inflammasomes (PubMed:26375003, PubMed:32109412). Involved in NLRP3-dependent CASP1 activation and IL1B secretion in response to non-canonical activators, such as UVB radiation or cholera enterotoxin (PubMed:22246630, PubMed:23516580, PubMed:24879791, PubMed:25964352, PubMed:26173988, PubMed:26174085, PubMed:26508369). Involved in NLRP6 inflammasome-dependent activation in response to lipoteichoic acid (LTA), a cell-wall component of Gram-positive bacteria, which leads to CASP1 activation and IL1B secretion (PubMed:33377178). Involved in LPS-induced IL6 secretion; this activity may not require caspase enzymatic activity (PubMed:26508369). The non-canonical inflammasome is required for innate immunity to cytosolic, but not vacuolar, bacteria (By similarity). Plays a crucial role in the restriction of S.typhimurium replication in colonic epithelial cells during infection (PubMed:25121752, PubMed:25964352). Activation of the non-canonical inflammasome in brain endothelial cells can lead to excessive pyroptosis, leading to blood-brain barrier breakdown (By similarity). Pyroptosis limits bacterial replication, while cytokine secretion promotes the recruitment and activation of immune cells and triggers mucosal inflammation (PubMed:25121752, PubMed:25964352, PubMed:26375003). May also act as an activator of adaptive immunity in dendritic cells, following activation by oxidized phospholipid 1-palmitoyl-2-arachidonoyl- sn-glycero-3-phosphorylcholine, an oxidized phospholipid (oxPAPC) (By similarity). Involved in cell death induced by endoplasmic reticulum stress and by treatment with cytotoxic APP peptides found in Alzheimer's patient brains (PubMed:15123740, PubMed:22246630, PubMed:23661706). Cleavage of GSDMD is not strictly dependent on the consensus cleavage site but depends on an exosite interface on CASP4 that recognizes and binds the Gasdermin-D, C-terminal (GSDMD-CT) part (PubMed:32109412). Catalyzes cleavage and maturation of IL18; IL18 processing also depends of the exosite interface on CASP4 (PubMed:15326478, PubMed:37993712, PubMed:37993714). In contrast, it does not directly process IL1B (PubMed:7743998, PubMed:7797510, PubMed:7797592). During non-canonical inflammasome activation, cuts CGAS and may play a role in the regulation of antiviral innate immune activation (PubMed:28314590)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural insights into cytokine cleavage by inflammatory caspase-4. Erratum:[Nature. 2024 Jan;625(7995):E17. doi: 10.1038/s41586-023-06942-4. PMID: 38172642], [RefSeq, PubMed]; This gene encodes a protein that is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes composed of a prodomain and a large and small protease subunit. Activation of caspases requires proteolytic processing at conserved internal aspartic residues to generate a heterodimeric enzyme consisting of the large and small subunits. This caspase is able to cleave and activate its own precursor protein, as well as caspase 1 precursor. When overexpressed, this gene induces cell apoptosis. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2NHL8;A2NHL9;A2NHM0;B3KPZ9;B4DJH5;B4E2D2;O95601;Q7KYX7;Q9UG96", "ec_number_list": [ { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.4.22.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.56", "type": "external" }, { "id": "3.4.22.55", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.55", "type": "external" }, { "id": "3.4.22.57", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.57", "type": "external" }, { "id": "3.4.22.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.62", "type": "external" }, { "id": "3.4.22.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.61", "type": "external" } ], "go_molecular_function": "GO:0008289 lipid binding;GO:0001530 lipopolysaccharide binding;GO:0004197 cysteine-type endopeptidase activity;GO:0050700 CARD domain binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0045087 innate immune response;GO:0050830 defense response to Gram-positive bacterium;GO:1904646 cellular response to amyloid-beta;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P49662-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51684-1", "uniprot_id": [ { "id": "CCR6_HUMAN", "url": "https://www.uniprot.org/uniprot/P51684", "type": "external" } ], "mass": 42494.0, "length": 374, "protein_name": "C-C chemokine receptor type 6", "gene_name": "CCR6", "organism": "Human", "refseq_name": "C-C chemokine receptor type 6", "refseq_ac": [ { "id": "NP_004358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004358", "type": "external" } ], "gene_names_uniprotkb": "CCR6; CKRL3; CMKBR6; GPR29; STRL22", "gene_names_refseq": "BN-1; C-C CKR-6; CC-CKR-6; CCR-6; CCR6; CD196; CKR-L3; CKRL3; CMKBR6; DCR2; DRY6; GPR29; GPRCY4; STRL22", "protein_names_uniprotkb": "C-C chemokine receptor type 6; C-C CKR-6; CC-CKR-6; CCR-6; CKR-L3; Chemokine receptor-like 3; DRY6; G protein-coupled receptor 29; GPR-CY4; GPRCY4; LARC receptor", "protein_names_refseq": "C-C chemokine receptor type 6; G protein-coupled receptor 29; LARC receptor; chemokine (C-C motif) receptor 6; chemokine (C-C) receptor 6; chemokine receptor-like 3; seven-transmembrane receptor, lymphocyte, 22", "tax_id": 9606, "disease": "exanthem (Disease Ontology:DOID:0050486); primary cutaneous T-cell non-Hodgkin lymphoma (Disease Ontology:DOID:0060061); fungal infectious disease (Disease Ontology:DOID:1564); breast cancer (Disease Ontology:DOID:1612); transient cerebral ischemia (Disease Ontology:DOID:224); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); IgA glomerulonephritis (Disease Ontology:DOID:2986); systemic scleroderma (Disease Ontology:DOID:418); psoriasis (Disease Ontology:DOID:8893)", "pathway": " (hsa:1235); (R-HSA-1461957); (R-HSA-380108); (R-HSA-418594)", "pathway_count": 4, "publication_count": 93, "publication_id_list": "10229797;10521347;10640743;10706668;10725696;10725697;10781587;10914484;11007482;11060282;11085990;11702237;11934878;12081481;12120503;12149255;12554737;12884299;15067078;15951850;16107333;16634148;16923326;1744577;18006661;1840701;18434541;18577758;1891716;20002784;20068036;20483750;2078213;21122132;21376174;2217207;23765988;2423119;25122636;2534964;25502872;25585877;25892735;2748346;27920218;2834384;28832583;28904123;29242379;29552015;29557506;29632046;2970963;29769354;3098319;31154438;32350084;32502341;3260265;33392160;34357683;34932366;35051231;35154160;38156398;38197598;38334630;38807599;7602097;7622448;7642634;7679328;7851893;7875320;7937899;8015379;8048929;8383238;8406495;8639485;8849694;8886020;9024663;9070937;9164944;9166430;9169459;9207005;9276730;9390561;9463416;9541493;9618518", "class_list": "", "function": "CCL18 aggravates atherosclerosis by inducing CCR6-dependent T-cell influx and polarization. Publication Status: Online-Only, [RefSeq, PubMed]; Increased gene expression of CCR6 and RORgammat in peripheral blood cells of rheumatoid arthritis patients and their correlation with anti-cyclic citrullinated peptide and disease activity., [RefSeq, PubMed]; Pro-Fibrotic Effects of CCL18 on Human Lung Fibroblasts Are Mediated via CCR6. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for the C-C type chemokine CCL20 (PubMed:9169459). Binds to CCL20 and subsequently transduces a signal by increasing the intracellular calcium ion levels (PubMed:20068036). Although CCL20 is its major ligand it can also act as a receptor for non-chemokine ligands such as beta-defensins (PubMed:25585877). Binds to defensin DEFB1 leading to increase in intracellular calcium ions and cAMP levels. Its binding to DEFB1 is essential for the function of DEFB1 in regulating sperm motility and bactericidal activity (PubMed:25122636). Binds to defensins DEFB4 and DEFB4A/B and mediates their chemotactic effects (PubMed:20068036). The ligand-receptor pair CCL20-CCR6 is responsible for the chemotaxis of dendritic cells (DC), effector/ memory T-cells and B-cells and plays an important role at skin and mucosal surfaces under homeostatic and inflammatory conditions, as well as in pathology, including cancer and various autoimmune diseases. CCR6-mediated signals are essential for immune responses to microbes in the intestinal mucosa and in the modulation of inflammatory responses initiated by tissue insult and trauma (PubMed:21376174). CCR6 is essential for the recruitment of both the pro-inflammatory IL17 producing helper T-cells (Th17) and the regulatory T-cells (Treg) to sites of inflammation. Required for the normal migration of Th17 cells in Peyers-patches and other related tissue sites of the intestine and plays a role in regulating effector T-cell balance and distribution in inflamed intestine. Plays an important role in the coordination of early thymocyte precursor migration events important for normal subsequent thymocyte precursor development, but is not required for the formation of normal thymic natural regulatory T-cells (nTregs). Required for optimal differentiation of DN2 and DN3 thymocyte precursors. Essential for B-cell localization in the subepithelial dome of Peyers-patches and for efficient B-cell isotype switching to IgA in the Peyers-patches. Essential for appropriate anatomical distribution of memory B-cells in the spleen and for the secondary recall response of memory B-cells (By similarity). Positively regulates sperm motility and chemotaxis via its binding to CCL20 (PubMed:23765988)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Role of the CCL20/CCR6 axis in tubular epithelial cell injury: Kidney-specific translational insights from acute kidney injury to chronic kidney disease., [RefSeq, PubMed]; This gene encodes a member of the beta chemokine receptor family, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. The gene is preferentially expressed by immature dendritic cells and memory T cells. The ligand of this receptor is macrophage inflammatory protein 3 alpha (MIP-3 alpha). This receptor has been shown to be important for B-lineage maturation and antigen-driven B-cell differentiation, and it may regulate the migration and recruitment of dentritic and T cells during inflammatory and immunological responses. Alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 9, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "E1P5C6;P78553;Q92846", "ec_number_list": [], "go_molecular_function": "GO:0004950 chemokine receptor activity;GO:0016493 C-C chemokine receptor activity;GO:0019957 C-C chemokine binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0009897 external side of plasma membrane;GO:0036126 sperm flagellum;GO:0097524 sperm plasma membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P51684-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53634-1", "uniprot_id": [ { "id": "CATC_HUMAN", "url": "https://www.uniprot.org/uniprot/P53634", "type": "external" } ], "mass": 51854.0, "length": 463, "protein_name": "Dipeptidyl peptidase 1", "gene_name": "CTSC", "organism": "Human", "refseq_name": "dipeptidyl peptidase 1 isoform c precursor", "refseq_ac": [ { "id": "NP_001107645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107645", "type": "external" } ], "gene_names_uniprotkb": "CTSC; CPPI", "gene_names_refseq": "CPPI; CTSC; DPP-I; DPP1; DPPI; HMS; JPD; JP; PALS; PDON1; PLS", "protein_names_uniprotkb": "Dipeptidyl peptidase 1; 3.4.14.1; Cathepsin C; Cathepsin J; DPP-I; DPPI; Dipeptidyl peptidase I exclusion domain chain; Dipeptidyl peptidase I heavy chain; Dipeptidyl peptidase I light chain; Dipeptidyl peptidase I; Dipeptidyl transferase", "protein_names_refseq": "cathepsin J; dipeptidyl peptidase 1 isoform c precursor; dipeptidyl peptidase 1; dipeptidyl transferase; dipeptidyl-peptidase I", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); autism spectrum disorder (Disease Ontology:DOID:0060041); aggressive periodontitis 1 (Disease Ontology:DOID:0061237); autosomal dominant intellectual developmental disorder 7 (Disease Ontology:DOID:0070037); intellectual disability (Disease Ontology:DOID:1059); hypertension (Disease Ontology:DOID:10763); dilated cardiomyopathy (Disease Ontology:DOID:12930); Down syndrome (Disease Ontology:DOID:14250); aggressive periodontitis (Disease Ontology:DOID:1474); renovascular hypertension (Disease Ontology:DOID:1591); brain ischemia (Disease Ontology:DOID:2316); Papillon-Lefevre disease (Disease Ontology:DOID:3389); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hyperhomocysteinemia (Disease Ontology:DOID:9279); obesity (Disease Ontology:DOID:9970); Haim-Munk syndrome (MONDO:MONDO:0009491)", "pathway": " (hsa:1075); (R-HSA-204005); (R-HSA-2132295); (R-HSA-5694530); (R-HSA-6798695)", "pathway_count": 5, "publication_count": 272, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10036229;10064083;10072072;10233671;10445031;10480952;10540230;10559958;10559959;10581027;10593899;10631941;10631952;10639150;10652252;10662807;10662808;10679020;10747087;10748235;10788476;10809954;10825291;10903204;10982397;11015218;11035026;11106356;11158173;11180012;11180601;11237011;11285137;11306556;11529500;11684289;11726493;11790530;11813165;11853874;11886537;11927603;12070132;12078484;12112662;12198549;12235121;12237308;12742663;12748383;12809647;14731593;14974080;15037235;15108292;15749704;1586157;15911768;15991336;16129679;16181339;16242130;16303754;16495487;16618111;16624868;16824007;16912714;17005010;17010120;17038314;17142755;17192411;17283181;17287728;17316621;17499046;17562788;17607000;17684057;18025080;18046453;18283111;18287528;18292509;18512783;18566446;18843296;19117535;19159218;19164740;19167329;19265014;19269366;1956401;19564404;19566487;19638414;19656848;20427317;20477988;20533886;20545907;20679433;20805473;20966969;21081667;21116285;2121367;21441454;21478858;21525241;21532587;21654843;21689688;21878990;2190094;22013193;22157747;22675024;23090970;23328677;23378591;23479643;23650620;23698585;23719902;23852824;23864707;2391366;24119662;24190977;24917561;25202031;25406594;25492864;25502872;25505266;25586378;25619252;25619253;25799584;25880248;25892735;26154972;26375851;26768311;26992070;27090790;27452731;27600516;27726376;27846572;27920218;28218747;28228285;28467828;28510447;28514659;28649982;28832583;28834231;28871256;28904123;29242379;29314611;29317506;29391424;29393594;29508533;29557506;29632046;29632711;29741879;29769354;29786170;30192525;30315122;30429286;30573663;30779550;30833945;31217245;31222486;31530632;31844290;32125861;32157095;32162841;32350084;32357974;32488085;32897882;32983136;33043033;33091337;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34171305;34357683;34433824;34561969;34932366;35051231;35154160;35251023;35561310;35580925;36215666;36284347;36581221;37074911;37757845;37758158;37794357;37938771;38104461;38665916;38965845;40914422;7481823;7592972;7649281;7650016;7665576;7667286;8046351;8134367;8145819;8148318;8221884;8313912;8397411;8415765;8428921;8620540;8642258;8663406;8672555;8687433;8692836;8849454;8909537;8939989;8947036;9075930;9092576;9094723;9150144;9177194;9202021;9307973;9311912;9312039;9395526;9472029;9497313;9507095;9539769;9545226;9606180;9647643", "class_list": "", "function": "Cathepsin C role in inflammatory gastroenterological, renal, rheumatic, and pulmonary disorders. Review article, [RefSeq, PubMed]; Expression and significance of cathepsin C and cathepsin D during pregnancy and Preeclampsia. Publication Status: Online-Only, [RefSeq, PubMed]; Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing., [RefSeq, PubMed]; Possible relation of cathepsin C activity and seasonal fluctuation of skin lesions in Papillon-Lefevre syndrome., [RefSeq, PubMed]; Thiol protease (PubMed:1586157). Has dipeptidylpeptidase activity (PubMed:1586157). Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids (PubMed:1586157). Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate (PubMed:1586157). Can act as both an exopeptidase and endopeptidase (PubMed:1586157). Activates serine proteases such as elastase, cathepsin G and granzymes A and B (PubMed:8428921)., [UniProtKB, PubMed, PubMed]; Thiol protease. Has dipeptidylpeptidase activity. Active against a broad range of dipeptide substrates composed of both polar and hydrophobic amino acids. Proline cannot occupy the P1 position and arginine cannot occupy the P2 position of the substrate. Can act as both an exopeptidase and endopeptidase. Activates serine proteases such as elastase, cathepsin G and granzymes A and B., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the peptidase C1 family and lysosomal cysteine proteinase that appears to be a central coordinator for activation of many serine proteinases in cells of the immune system. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate heavy and light chains that form a disulfide-linked dimer. A portion of the propeptide acts as an intramolecular chaperone for the folding and stabilization of the mature enzyme. This enzyme requires chloride ions for activity and can degrade glucagon. Defects in the encoded protein have been shown to be a cause of Papillon-Lefevre syndrome, an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis. [provided by RefSeq, Nov 2015]., [RefSeq]; [Single-cell transcriptomic sequencing coupled with Mendelian randomization analysis elucidates the pivotal role of CTSC in chronic rhinosinusitis]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 135, "disease_count": 18, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K7V2;B5MDD5;Q2HIY8;Q53G93;Q71E75;Q71E76;Q7M4N9;Q7Z3G7;Q7Z5U7;Q8WY99;Q8WYA7;Q8WYA8", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.4.22.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.43", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.22.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.1", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.4.23.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.34", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.4.22.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.42", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.4.22.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.41", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0008239 dipeptidyl-peptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0042802 identical protein binding;GO:0051087 protein-folding chaperone binding;GO:0031404 chloride ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0030134 COPII-coated ER to Golgi transport vesicle", "go_biological_process": "GO:0006508 proteolysis;GO:0006955 immune response;GO:0051603 proteolysis involved in protein catabolic process;GO:1903052 positive regulation of proteolysis involved in protein catabolic process;GO:0001913 T cell mediated cytotoxicity", "synthesized_glycan_count": 0, "hit_score": 41.4, "record_id": "P53634-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55291-1", "uniprot_id": [ { "id": "CAD15_HUMAN", "url": "https://www.uniprot.org/uniprot/P55291", "type": "external" } ], "mass": 88916.0, "length": 814, "protein_name": "Cadherin-15", "gene_name": "CDH15", "organism": "Human", "refseq_name": "cadherin-15 preproprotein", "refseq_ac": [ { "id": "NP_004924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004924", "type": "external" } ], "gene_names_uniprotkb": "CDH15; CDH14; CDH3", "gene_names_refseq": "CDH14; CDH15; CDH3; CDHM; MCAD; MRD3", "protein_names_uniprotkb": "Cadherin-15; Cadherin-14; M-cadherin; Muscle cadherin", "protein_names_refseq": "cadherin 15, type 1, M-cadherin (myotubule); cadherin-14; cadherin-15 preproprotein; cadherin-3; muscle-cadherin", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 3 (Disease Ontology:DOID:0070033)", "pathway": " (hsa:1013); (R-HSA-418990); (R-HSA-525793)", "pathway_count": 3, "publication_count": 31, "publication_id_list": "10225955;10330143;10601328;10805738;11782431;12050160;12634428;16467305;17967169;19012874;19354288;19564926;19851296;20160094;20198315;25372031;31154438;31854260;32387766;32938616;35051231;35251023;7806582;9030594;9069290;9219219;9418854;9786951;9845526;9858528;9988769", "class_list": "", "function": "A potential role for the CDH13/CDH15 gene in repeat revascularization after first percutaneous coronary intervention., [RefSeq, PubMed]; Alterations in CDH15 in patients with mild to severe intellectual disability are reported., [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. M-cadherin is part of the myogenic program and may provide a trigger for terminal muscle differentiation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0031594 neuromuscular junction;GO:0070062 extracellular exosome;GO:0005901 caveola", "go_biological_process": "GO:0007155 cell adhesion;GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "P55291-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78396-1", "uniprot_id": [ { "id": "CCNA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78396", "type": "external" } ], "mass": 52358.0, "length": 465, "protein_name": "Cyclin-A1", "gene_name": "CCNA1", "organism": "Human", "refseq_name": "cyclin-A1", "refseq_ac": [ { "id": "NP_001104516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104516", "type": "external" } ], "gene_names_uniprotkb": "CCNA1", "gene_names_refseq": "CCNA1; CT146", "protein_names_uniprotkb": "Cyclin-A1", "protein_names_refseq": "cyclin-A1; testicular tissue protein Li 34", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:8900); (R-HSA-1538133); (R-HSA-171319); (R-HSA-174184); (R-HSA-176408); (R-HSA-187577); (R-HSA-2559582); (R-HSA-2559586); (R-HSA-5689880); (R-HSA-5693607); (R-HSA-6804116); (R-HSA-6804756); (R-HSA-6804757); (R-HSA-68911); (R-HSA-68949); (R-HSA-69017); (R-HSA-69205); (R-HSA-69273); (R-HSA-69478); (R-HSA-69563); (R-HSA-69656); (R-HSA-75035)", "pathway_count": 22, "publication_count": 405, "publication_id_list": "10022926;10037601;10228158;10323868;10330186;10339564;10375532;10393926;10395539;10432220;10435585;10435622;10444327;10454565;10454584;10500146;10548110;10559916;10570149;10597240;10600115;10604467;10608892;10652300;10669743;10673500;10673501;10679238;10692433;10710310;10722742;10827953;10859164;10884347;10891498;10980695;10980696;10982817;10995389;11046155;11063929;11080452;11114305;11139606;11231585;11238451;11239457;11285280;11301010;11313932;11340163;11359766;11376695;11390642;11447225;11454856;11504915;11511362;11546806;11551930;11566882;11585773;11598127;11739726;11740489;11780126;11812999;11897663;11907280;11923872;11931757;11959842;11983168;11988738;12064478;12152085;12393752;12393879;12411508;12545175;12556884;12578958;12692263;12699629;12702766;12730199;12754270;12766774;12782299;12791985;12832467;12851404;12914926;12917689;12917691;1312467;1384126;1396589;14507994;14532133;14576433;14580351;14633988;14661020;14679213;14702041;14743218;14990995;15014447;15024056;15053879;15053880;15060173;15064416;15133492;15159402;15189136;15189140;15190204;15199159;1535557;15369670;15456846;15458641;15510213;15510216;15572030;15655109;15707391;15722552;15774718;15788536;15790808;15866171;15916963;16141325;1614537;16148040;16153896;16163388;16166375;16209941;16214042;16262255;16322561;16327781;16339074;16360315;16402859;16474402;16522649;16530042;16582612;16626623;16845383;16858402;16885023;16901786;16964248;17108107;17121812;17172855;1717476;17290220;17349958;17395830;17443180;17533373;17575048;17591690;17694070;17719541;17873522;17923702;17928296;17965729;17980597;17981138;18171670;18172164;18194653;18202719;18267069;1828290;18285455;18358808;1836978;18384749;18394995;18411265;18438399;18467330;18490454;18523010;18555777;18555778;18632802;18636086;18719096;18805091;18923075;18971343;19015242;19121998;19135894;19160488;19179534;19188362;19192479;19357644;19363159;19383767;19398555;19419957;19424180;19734544;19756449;19783983;19805069;19816404;19838211;19874889;19910467;19965871;20096447;20154705;20228808;20233725;20351173;20360007;20368735;20404094;20438709;20452968;20501646;20524933;20713061;20817677;20959462;21052091;21239494;21240188;21263215;21317932;21325134;21335604;21362556;21498570;21540187;21571647;21596315;21659512;21659603;21680713;21730132;21730163;21777809;21813648;2183031;21849505;21900495;21962518;21979375;21986495;22021381;22024395;22029577;22085928;22128162;22172947;22178396;22216260;22231403;22579284;22634325;22635276;22661229;22661230;22792074;22802528;22802529;22977173;23000554;23064264;23103865;23159851;23242214;23345434;23395819;2342578;23468639;23485397;23486064;23657261;23676219;23824326;23825189;23846687;2392154;2405250;24056413;24145406;24260525;24493797;24706756;24715725;24874608;24896179;25113031;25122754;25128433;25197364;25240135;25271372;25305019;25418920;25558984;25578727;25620558;25659039;25733683;25880248;25892735;26154972;26811146;26929215;27452520;28228285;28514659;29154753;29178645;29393594;29557506;29695869;30524438;31291378;31413110;31723267;32157447;32357974;32387766;32502341;32897882;32938616;32983136;33392160;33402344;33771996;33968037;34290392;34509612;34509645;35051231;36172813;38016768;38454404;7578059;7623816;7629134;7686617;7737117;7743995;7784084;7799941;7929342;7957050;7958856;8033208;8114698;8119945;8234276;8242751;8242752;8288595;8319905;8384717;8413215;8413306;8428596;8440392;8479525;8617720;8618861;8688489;8884985;8887688;8939459;8943353;8954786;9020173;9041194;9199292;9268380;9520412;9662327;9670027;9679058;9705271;9724731;9733514;9733515;9778043;9780002;9843217;9925639", "class_list": "", "function": "Cyclin A1 (CCNA1) inhibits osteoporosis by suppressing transforming growth factor-beta (TGF-beta) pathway in osteoblasts. Publication Status: Online-Only, [RefSeq, PubMed]; Histone methyltransferase EZH2 epigenetically affects CCNA1 expression in acute myeloid leukemia., [RefSeq, PubMed]; May be involved in the control of the cell cycle at the G1/S (start) and G2/M (mitosis) transitions. May primarily function in the control of the germline meiotic cell cycle and additionally in the control of mitotic cell cycle in some somatic cells., [UniProtKB, PubMed]; The combined detection of Amphiregulin, Cyclin A1 and DDX20/Gemin3 expression predicts aggressive forms of oral squamous cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; [Cyclin A1 affects the invasion, metastasis, and prognosis of hepatocellular carcinoma]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z7E3;Q5T3V0;Q5U0G2;Q8IY91", "ec_number_list": [], "go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0007283 spermatogenesis;GO:0051301 cell division;GO:0000082 G1/S transition of mitotic cell cycle;GO:0007141 male meiosis I", "synthesized_glycan_count": 0, "hit_score": 40.6, "record_id": "P78396-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00975-1", "uniprot_id": [ { "id": "CAC1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00975", "type": "external" } ], "mass": 262496.0, "length": 2339, "protein_name": "Voltage-dependent N-type calcium channel subunit alpha-1B", "gene_name": "CACNA1B", "organism": "Human", "refseq_name": "voltage-dependent N-type calcium channel subunit alpha-1B isoform 1", "refseq_ac": [ { "id": "NP_000709", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000709", "type": "external" } ], "gene_names_uniprotkb": "CACNA1B; CACH5; CACNL1A5", "gene_names_refseq": "BIII; CACNA1B; CACNL1A5; CACNN; Cav2.2; DYT23; NEDNEH", "protein_names_uniprotkb": "Voltage-dependent N-type calcium channel subunit alpha-1B; BIII; Brain calcium channel III; Calcium channel, L type, alpha-1 polypeptide isoform 5; Voltage-gated calcium channel subunit alpha Cav2.2", "protein_names_refseq": "Cav2.2 voltage-gated Ca2+ channel; brain calcium channel III; calcium channel alpha12.2 subunit; calcium channel, L type, alpha-1 polypeptide; calcium channel, voltage-dependent, L type, alpha 1B subunit; calcium channel, voltage-dependent, N type, alpha 1B subunit; voltage-dependent N-type calcium channel subunit alpha-1B isoform 1; voltage-gated calcium channel alpha subunit Cav2.2; voltage-gated calcium channel subunit alpha Cav2.2", "tax_id": 9606, "disease": "Lambert-Eaton myasthenic syndrome (Disease Ontology:DOID:0050214); hereditary ataxia (Disease Ontology:DOID:0050951); familial hemiplegic migraine 1 (Disease Ontology:DOID:0111181); epilepsy (Disease Ontology:DOID:1826); multiple sclerosis (Disease Ontology:DOID:2377); brain edema (Disease Ontology:DOID:4724); migraine (Disease Ontology:DOID:6364); neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (MONDO:MONDO:0032784)", "pathway": " (hsa:774); (R-HSA-112308)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;1321501;16406008;16982421;17081983;25296916;26157024;26992070;28514659;28832583;29242379;30982612;31154438;31844290;33912179;34234349;34731621;35051231;35777045;36137995;37938771;38157867;8825650;9030575", "class_list": "", "function": "An orally available Cav2.2 calcium channel inhibitor for the treatment of neuropathic pain., [RefSeq, PubMed]; Cav2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization. Publication Status: Online-Only, [RefSeq, PubMed]; Closed-state inactivation and pore-blocker modulation mechanisms of human CaV2.2., [RefSeq, PubMed]; High expression of N-type calcium channel indicates a favorable prognosis in gliomas. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of human Cav2.2 channel blocked by the painkiller ziconotide., [RefSeq, PubMed]; The protein encoded by this gene is the pore-forming subunit of an N-type voltage-dependent calcium channel, which controls neurotransmitter release from neurons. The encoded protein forms a complex with alpha-2, beta, and delta subunits to form the high-voltage activated channel. This channel is sensitive to omega-conotoxin-GVIA and omega-agatoxin-IIIA but insensitive to dihydropyridines. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This alpha-1B subunit gives rise to N-type calcium currents. N-type calcium channels belong to the 'high-voltage activated' (HVA) group. They are involved in pain signaling (PubMed:25296916). Calcium channels containing alpha-1B subunit may play a role in directed migration of immature neurons. Mediates Ca(2+) release probability at hippocampal neuronal soma and synaptic terminals (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 4, "predicted_n_glycosites": 2, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 79, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B1AQK5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0001540 amyloid-beta binding;GO:0005509 calcium ion binding;GO:0005245 voltage-gated calcium channel activity;GO:0008331 high voltage-gated calcium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0045202 synapse;GO:0005891 voltage-gated calcium channel complex;GO:0034702 monoatomic ion channel complex", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:1904645 response to amyloid-beta;GO:0050804 modulation of chemical synaptic transmission;GO:0098703 calcium ion import across plasma membrane;GO:1903235 positive regulation of calcium ion-dependent exocytosis of neurotransmitter", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q00975-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08AD1-1", "uniprot_id": [ { "id": "CAMP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08AD1", "type": "external" } ], "mass": 168089.0, "length": 1489, "protein_name": "Calmodulin-regulated spectrin-associated protein 2", "gene_name": "CAMSAP2", "organism": "Human", "refseq_name": "calmodulin-regulated spectrin-associated protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001284636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284636", "type": "external" } ], "gene_names_uniprotkb": "CAMSAP2; CAMSAP1L1; KIAA1078", "gene_names_refseq": "CAMSAP1L1; CAMSAP2", "protein_names_uniprotkb": "Calmodulin-regulated spectrin-associated protein 2; Calmodulin-regulated spectrin-associated protein 1-like protein 1", "protein_names_refseq": "calmodulin-regulated spectrin-associated protein 1-like protein 1; calmodulin-regulated spectrin-associated protein 2 isoform 1; calmodulin-regulated spectrin-associated protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23271)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;16959974;16964243;18220336;18669648;19508979;20068231;21406692;22116939;23169647;23186163;23481700;24148305;24486153;24706919;24908486;25576301;25645385;25892735;27600516;27666745;27862975;28228285;28510447;28514659;28657654;28726242;28814570;28904123;29393594;29557506;29769354;29786170;30410026;30429286;31844290;32157095;32265295;32357974;32488085;32938616;33298915;33392160;33592498;33968037;33981976;34087483;34171305;35051231;35580925;36010968;36215666;36241641;36284347;37217939;37567766;37814859;37938771;38159595", "class_list": "", "function": "CAMSAP2 and CAMSAP3 localize at microtubule intersections to regulate the spatial distribution of microtubules., [RefSeq, PubMed]; CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation., [RefSeq, PubMed]; In a two-stage GWAS to identify common susceptibility variants of epilepsy in Chinese, the strongest signals were observed with two highly correlated variants, rs2292096 and rs6660197, with the former reaching genome-wide significance, on 1q32.1 in the CAMSAP1L gene, [RefSeq, PubMed]; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:23169647, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153, PubMed:24706919). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:27666745). Essential for the tethering, but not for nucleation of non-centrosomal microtubules at the Golgi: together with Golgi-associated proteins AKAP9 and PDE4DIP, required to tether non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745). Also acts as a regulator of neuronal polarity and development: localizes to non-centrosomal microtubule minus-ends in neurons and stabilizes non-centrosomal microtubules, which is required for neuronal polarity, axon specification and dendritic branch formation (PubMed:24908486). Through the microtubule cytoskeleton, regulates the autophagosome transport (PubMed:28726242)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The CKK domain binds microtubules and represents a domain that evolved with the metazoa., [RefSeq, PubMed]; The rs2292096 G allele of CAMSAP1L1, which was associated with reduced risk of symptomatic epilepsy, tended to associate with increased expression of CAMSAP1L1, which represses neurite outgrowth., [RefSeq, PubMed]; [High expression of CAMSAP2 promotes invasion and metastasis of gastric cancer cells by upregulating TGF-beta signaling]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1APG6;Q08AD2;Q6PGN8;Q96FB3;Q9UG20;Q9UPS4", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0030507 spectrin binding;GO:0051011 microtubule minus-end binding;GO:0008017 microtubule binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0036064 ciliary basal body;GO:1990752 microtubule end", "go_biological_process": "GO:0031113 regulation of microtubule polymerization;GO:0007026 negative regulation of microtubule depolymerization;GO:0000226 microtubule cytoskeleton organization;GO:0033043 regulation of organelle organization;GO:0061564 axon development", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q08AD1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16568-1", "uniprot_id": [ { "id": "CART_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16568", "type": "external" } ], "mass": 12829.0, "length": 116, "protein_name": "Cocaine- and amphetamine-regulated transcript protein", "gene_name": "CARTPT", "organism": "Human", "refseq_name": "cocaine- and amphetamine-regulated transcript protein preproprotein", "refseq_ac": [ { "id": "NP_004282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004282", "type": "external" } ], "gene_names_uniprotkb": "CARTPT; CART", "gene_names_refseq": "CARTPT; CART", "protein_names_uniprotkb": "Cocaine- and amphetamine-regulated transcript protein", "protein_names_refseq": "cocaine- and amphetamine-regulated transcript protein preproprotein; cocaine- and amphetamine-regulated transcript protein", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); amnestic disorder (Disease Ontology:DOID:10914); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); morphine dependence (Disease Ontology:DOID:2560); cerebral infarction (Disease Ontology:DOID:3526); amphetamine abuse (Disease Ontology:DOID:670); cocaine abuse (Disease Ontology:DOID:809); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9607)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10235641;10905499;11478874;11522684;15340161;18702456;33592498;34043767;34876220;35008409;36404325;37615074;8647455;9590691", "class_list": "", "function": "Cocaine and amphetamine regulated transcript (CART): a newly characterized neuropeptide in human prostate., [RefSeq, PubMed]; Dietary glycemic index and glycemic load mediate the effect of CARTPT rs2239670 gene polymorphism on metabolic syndrome and metabolic risk factors among adults with obesity. Publication Status: Online-Only, [RefSeq, PubMed]; Hypothalamic-pituitary hormones will be affected by the interaction between 5q13-14-rs2239670 (CARTPT) gene variants and diet in different obesity phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; Medium-sized CART-positive neurons are common in the medial division of the shell of nucleus accumbens in monkeys. CART may be involved in neuronal and behavioural changes that underlie addiction to psychomotor stimulants and feeding., [RefSeq, PubMed]; Overcoming Stress, Hunger, and Pain: Cocaine- and Amphetamine-Regulated Transcript Peptide's Promise. Review article, [RefSeq, PubMed]; Satiety factor closely associated with the actions of leptin and neuropeptide Y; this anorectic peptide inhibits both normal and starvation-induced feeding and completely blocks the feeding response induced by neuropeptide Y and regulated by leptin in the hypothalamus. It promotes neuronal development and survival in vitro., [UniProtKB, PubMed]; This gene encodes a preproprotein that is proteolytically processed to generate multiple biologically active peptides. These peptides play a role in appetite, energy balance, maintenance of body weight, reward and addiction, and the stress response. Expression of a similar gene transcript in rodents is upregulated following administration of cocaine and amphetamine. Mutations in this gene are associated with susceptibility to obesity in humans. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6FG92", "ec_number_list": [], "go_molecular_function": "GO:0005184 neuropeptide hormone activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0043025 neuronal cell body;GO:0045202 synapse", "go_biological_process": "GO:0090325 regulation of locomotion involved in locomotory behavior;GO:0035106 operant conditioning;GO:1903999 negative regulation of eating behavior;GO:0006171 cAMP biosynthetic process;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q16568-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q494R4-1", "uniprot_id": [ { "id": "DRC12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q494R4", "type": "external" } ], "mass": 23858.0, "length": 210, "protein_name": "Dynein regulatory complex protein 12", "gene_name": "DRC12", "organism": "Human", "refseq_name": "dynein regulatory complex protein 12", "refseq_ac": [ { "id": "NP_001138490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138490", "type": "external" } ], "gene_names_uniprotkb": "DRC12; CCDC153", "gene_names_refseq": "CCDC153; DRC12", "protein_names_uniprotkb": "Dynein regulatory complex protein 12; Coiled-coil domain-containing protein 153; Dynein regulatory complex subunit 12 homolog", "protein_names_refseq": "coiled-coil domain containing 153; coiled-coil domain-containing protein 153; dynein regulatory complex protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:283152)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "28832583;29557506;39894887", "class_list": "", "function": "Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q494R4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BKX8-1", "uniprot_id": [ { "id": "CAVN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BKX8", "type": "external" } ], "mass": 41899.0, "length": 364, "protein_name": "Caveolae-associated protein 4", "gene_name": "CAVIN4", "organism": "Human", "refseq_name": "caveolae-associated protein 4", "refseq_ac": [ { "id": "NP_001018126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018126", "type": "external" } ], "gene_names_uniprotkb": "CAVIN4; MURC", "gene_names_refseq": "CAVIN4; MURC; cavin-4", "protein_names_uniprotkb": "Caveolae-associated protein 4; Muscle-related coiled-coil protein; Muscle-restricted coiled-coil protein", "protein_names_refseq": "caveolae-associated protein 4; muscle related coiled-coil protein; muscle-restricted coiled-coil protein", "tax_id": 9606, "disease": "muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:347273)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "18332105;19525939;21642240;24567387;26086601;26497963;26614875;30379171;31154438", "class_list": "", "function": "MURC modulates RhoA signaling, and MURC plays an important role in the development of cardiac dysfunction and conduction disturbance with increased vulnerability to atrial arrhythmias., [RefSeq, PubMed]; MURC mutations impart loss-of-function effects on MURC functions and probably are causal variants in human dilated cardiomyopathy, [RefSeq, PubMed]; MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of rhabdomyosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation. Facilitates the recruitment of MAPK1/3 to caveolae within cardiomyocytes and regulates alpha-1 adrenergic receptor-induced hypertrophic responses in cardiomyocytes through MAPK1/3 activation. Contributes to proper membrane localization and stabilization of caveolin-3 (CAV3) in cardiomyocytes (By similarity). Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the Rho/ROCK signaling pathway (PubMed:18332105)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1PRL3;B4DT88", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005901 caveola;GO:0042383 sarcolemma", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0007517 muscle organ development;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5BKX8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SR53-1", "uniprot_id": [ { "id": "CA200_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SR53", "type": "external" } ], "mass": 18168.0, "length": 167, "protein_name": "Putative uncharacterized protein PIK3CD-AS1", "gene_name": "PIK3CD-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PIK3CD-AS1; C1orf200", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PIK3CD-AS1; PIK3CD antisense RNA 1; PIK3CD antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N853", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5SR53-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T0U0-1", "uniprot_id": [ { "id": "CC122_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T0U0", "type": "external" } ], "mass": 32206.0, "length": 273, "protein_name": "Coiled-coil domain-containing protein 122", "gene_name": "CCDC122", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 122 isoform 1", "refseq_ac": [ { "id": "NP_659411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659411", "type": "external" } ], "gene_names_uniprotkb": "CCDC122", "gene_names_refseq": "CCDC122", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 122", "protein_names_refseq": "coiled-coil domain-containing protein 122 isoform 1; coiled-coil domain-containing protein 122", "tax_id": 9606, "disease": "", "pathway": " (hsa:160857)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;20018961;25367361;26992070;27846572;27920218;28063628;28832583;29393594;29508533;31844290;32357974;32387766;32938616;33298915;33968037;34509645;36010968", "class_list": "", "function": "Association between leprosy and tag SNPs at NOD2 (rs8057431) and CCDC122-LACC1 (rs4942254)., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RP70;B7ZMI9;Q96MV0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5T0U0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T5Y3-1", "uniprot_id": [ { "id": "CAMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T5Y3", "type": "external" } ], "mass": 177972.0, "length": 1602, "protein_name": "Calmodulin-regulated spectrin-associated protein 1", "gene_name": "CAMSAP1", "organism": "Human", "refseq_name": "calmodulin-regulated spectrin-associated protein 1 isoform 1", "refseq_ac": [ { "id": "NP_056262", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056262", "type": "external" } ], "gene_names_uniprotkb": "CAMSAP1", "gene_names_refseq": "CAMSAP1; CDCBM12", "protein_names_uniprotkb": "Calmodulin-regulated spectrin-associated protein 1", "protein_names_refseq": "calmodulin-regulated spectrin-associated protein 1 isoform 1; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "complex cortical dysplasia with other brain malformations 12 (Disease Ontology:DOID:0061141)", "pathway": " (hsa:157922)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;15592455;17081983;18669648;19508979;19651622;19664994;20068231;21834987;22544926;23186163;24117850;24486153;24706919;26992070;27600516;27958650;28228285;28832583;29242379;29393594;29493099;29557506;29786170;30429286;30524438;31748546;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33912179;33968037;33981976;34087483;34171305;34509645;35051231;35580925;36010968;36215666;36241641;36283405;37938771;38253038;40307207", "class_list": "", "function": "Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder., [RefSeq, PubMed]; Calmodulin Regulated Spectrin Associated Protein 1 mRNA is Directly Regulated by miR-126 in Primary Human Osteoblasts, [RefSeq, PubMed]; Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24117850, PubMed:24486153, PubMed:24706919). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The CAMSAP1 CKK domain remodels its microtubule interaction site and changes the underlying polymer structure because the tubulin lattice conformation is not optimal for its binding. Thus, in contrast to many microtubule associated proteins, the human CKK domain can differentiate subtly specific tubulin conformations to enable microtubule minus-end recognition. Publication Status: Online-Only, [RefSeq, PubMed]; The CKK domain binds microtubules and represents a domain that evolved with the metazoa., [RefSeq, PubMed]; These results show that members of the CAMSAP/Patronin family all localize to and protect minus-ends but have evolved distinct effects on microtubule dynamics., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A1L4L2;B2REB2;B2REB3;Q70W33;Q8NCY0;Q96E80;Q96FM3;Q9UFJ5", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0008017 microtubule binding;GO:0030507 spectrin binding;GO:0051011 microtubule minus-end binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005874 microtubule;GO:0072686 mitotic spindle", "go_biological_process": "GO:0031175 neuron projection development;GO:0031113 regulation of microtubule polymerization;GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q5T5Y3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TID7-1", "uniprot_id": [ { "id": "CC181_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TID7", "type": "external" } ], "mass": 60103.0, "length": 509, "protein_name": "Coiled-coil domain-containing protein 181", "gene_name": "CCDC181", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 181 isoform a", "refseq_ac": [ { "id": "NP_001287897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287897", "type": "external" } ], "gene_names_uniprotkb": "CCDC181; C1orf114", "gene_names_refseq": "C1orf114; CCDC181", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 181", "protein_names_refseq": "coiled-coil domain-containing protein 181 isoform a; coiled-coil domain-containing protein 181", "tax_id": 9606, "disease": "", "pathway": " (hsa:57821)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;19536175;28282151;29557506;30379171;31844290;33592498;34932366", "class_list": "", "function": "Microtubule-binding protein that is essential for the integrity and function of the manchette, facilitating proper sperm head shaping and subsequent flagellum formation during spermatogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60780;Q53FD5;Q5TID9;Q8TC48", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005874 microtubule;GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0002177 manchette;GO:0005930 axoneme", "go_biological_process": "GO:0007286 spermatid development;GO:1905198 manchette assembly;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5TID7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5XLA6-1", "uniprot_id": [ { "id": "CAR17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5XLA6", "type": "external" } ], "mass": 11868.0, "length": 110, "protein_name": "Putative caspase recruitment domain-containing protein 17P", "gene_name": "CARD17P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CARD17P; CARD17; INCA", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative caspase recruitment domain-containing protein 17P; Caspase-1 inhibitor INCA; Inhibitory caspase recruitment domain protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "15383541;32502341;35051231", "class_list": "", "function": "Regulator of procaspase-1/CASP1 activation implicated in the regulation of the proteolytic maturation of pro-IL-1beta/IL1B and its release during inflammation. Inhibits the release of IL1B in response to LPS in monocytes. However, unlike CASP1, do not induce NF-kappa-B activation., [UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004197 cysteine-type endopeptidase activity;GO:0089720 caspase binding;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006508 proteolysis;GO:0032691 negative regulation of interleukin-1 beta production;GO:0071222 cellular response to lipopolysaccharide;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5XLA6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1S2-1", "uniprot_id": [ { "id": "MISO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1S2", "type": "external" } ], "mass": 33765.0, "length": 294, "protein_name": "Mitochondrial inner membrane subdomain organizer 1", "gene_name": "C3orf33; MISO1", "organism": "Human", "refseq_name": "protein C3orf33 isoform 1", "refseq_ac": [ { "id": "NP_001295158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295158", "type": "external" } ], "gene_names_uniprotkb": "C3orf33; MISO1; C3orf33; MISO; MSTP052", "gene_names_refseq": "AC3-33; C3orf33; MISO1; MISO", "protein_names_uniprotkb": "Mitochondrial inner membrane subdomain organizer 1; Protein AC3-33", "protein_names_refseq": "AP-1 activity suppressor; mitochondrial inner membrane subdomain organizer; protein C3orf33 isoform 1; protein C3orf33", "tax_id": 9606, "disease": "", "pathway": " (hsa:285315)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;18487146;20680465;29557506;30429286;33392160;33912179;34171305;41398051", "class_list": "", "function": "AC3-33 is a novel member of the secretory family and inhibits Elk1 transcriptional activity via ERK1/2 MAP, [RefSeq, PubMed]; Regulates mitochondrial morphology and mitochondrial DNA (mtDNA) homeostasis (PubMed:41398051). Promotes the formation of specialized mitochondrial subdomains called small MTFP1-enriched mitochondria (SMEM) (PubMed:41398051). Negatively regulates mitochondrial fusion by excluding fusion coordinator OPA1 from SMEM (PubMed:41398051). Recruits mtDNA, potentially through interaction with SSBP1, and facilitates mtDNA transport to the mitochondrial periphery (PubMed:41398051). Also recruits other proteins, including PHB1, PHB2 and MTFP1, into SMEM which promotes peripheral mitochondrial fission, facilitating lysosome-mediated clearance of damaged mtDNA via mitophagy (PubMed:41398051)., [UniProtKB, PubMed]; Secreted protein which may play a role in transcription regulation via the MAPK3/MAPK1 pathway through an unidentified receptor on the plasma membrane., [UniProtKB, PubMed]; The preliminary results showed that AC3-33 is an important novel gene related to supress AP-1 activity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K1H5;Q86YE6;Q8IXA7;Q96NB5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "GO:0070373 negative regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6P1S2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6TFL3-1", "uniprot_id": [ { "id": "CC171_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6TFL3", "type": "external" } ], "mass": 152810.0, "length": 1326, "protein_name": "Coiled-coil domain-containing protein 171", "gene_name": "CCDC171", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 171 isoform 1", "refseq_ac": [ { "id": "NP_775821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775821", "type": "external" } ], "gene_names_uniprotkb": "CCDC171; C9orf93", "gene_names_refseq": "C9orf93; CCDC171; bA536D16.1; bA778P13.1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 171", "protein_names_refseq": "coiled-coil domain-containing protein 171 isoform 1; coiled-coil domain-containing protein 171; myosin tail domain containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:203238)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;23481700;25892735;28411811;29557506;30429286;30833945;31844290;32157095;32357974;32387766;32488085;32502341;32938616;33298915;33717175;33912179;34171305;34561969;35051231;37217939;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZM22;Q5SU58;Q6P1W1;Q6ZR13;Q8N1Z4;Q8N8L3;Q8TBR2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q6TFL3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXS9-1", "uniprot_id": [ { "id": "CASPC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXS9", "type": "external" } ], "mass": 38907.0, "length": 341, "protein_name": "Inactive caspase-12", "gene_name": "CASP12", "organism": "Human", "refseq_name": "inactive caspase-12", "refseq_ac": [ { "id": "NP_001177945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177945", "type": "external" } ], "gene_names_uniprotkb": "CASP12; PRO34398", "gene_names_refseq": "CASP-12; CASP12P1; CASP12", "protein_names_uniprotkb": "Inactive caspase-12; CASP-12", "protein_names_refseq": "caspase 12 pseudogene 1; inactive caspase-12", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); heart disease (Disease Ontology:DOID:114); sciatic neuropathy (Disease Ontology:DOID:11446); post-traumatic stress disorder (Disease Ontology:DOID:2055); brain ischemia (Disease Ontology:DOID:2316); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); pancreatitis (Disease Ontology:DOID:4989); ureteral obstruction (Disease Ontology:DOID:5199); congestive heart failure (Disease Ontology:DOID:6000); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:100506742)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12054529;12975309;15129283;16532395;16917906;29557506;30315122;31557882;31804677;32938616;33924755;35051231", "class_list": "", "function": "Analysis of CASP12 diagnostic and prognostic values in cervical cancer based on TCGA database., [RefSeq, PubMed]; Caspase 12 has acquired deleterious mutations, [RefSeq, PubMed]; Caspases are cysteine proteases that cleave C-terminal aspartic acid residues on their substrate molecules. This gene is most highly related to members of the ICE subfamily of caspases that process inflammatory cytokines. In rodents, the homolog of this gene mediates apoptosis in response to endoplasmic reticulum stress. However, in humans this gene contains a polymorphism for the presence or absence of a premature stop codon. The majority of human individuals have the premature stop codon and produce a truncated non-functional protein. The read-through codon occurs primarily in individuals of African descent and carriers have endotoxin hypo-responsiveness and an increased susceptibility to severe sepsis. Several alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]; Csp12-L attenuates the inflammatory and innate immune response to endotoxins and in doing so may constitute a risk factor for developing sepsis, [RefSeq, PubMed]; Human Caspase 12 Enhances NF-kappaB Activity through Activation of IKK in Nasopharyngeal Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; May function as a negative regulator of inflammatory responses and innate immunity. May reduce cytokine release in response to bacterial lipopolysaccharide during infection. Reduces activation of NF-kappa-B in response to TNF (PubMed:15129283). May lack protease activity (Probable)., [UniProtKB, PubMed, PubMed]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; The expression of three genes (STK26, KCNT2, CASP12) was correlated with the prognosis of skin cutaneous melanoma (SCM). STK26 and KCNT2 were significantly different between normal skin and SCM. These three hub genes have potential value as predictors for accurate diagnosis and prognosis of SCM in the future. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6RBN7", "ec_number_list": [], "go_molecular_function": "GO:0008234 cysteine-type peptidase activity;GO:0004197 cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0072558 NLRP1 inflammasome complex", "go_biological_process": "GO:0006508 proteolysis;GO:0050729 positive regulation of inflammatory response;GO:0043525 positive regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6UXS9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMN8-1", "uniprot_id": [ { "id": "CCNI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMN8", "type": "external" } ], "mass": 40622.0, "length": 369, "protein_name": "Cyclin-I2", "gene_name": "CCNI2", "organism": "Human", "refseq_name": "cyclin-I2 isoform 2", "refseq_ac": [ { "id": "NP_001034869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034869", "type": "external" } ], "gene_names_uniprotkb": "CCNI2", "gene_names_refseq": "CCNI2", "protein_names_uniprotkb": "Cyclin-I2", "protein_names_refseq": "cyclin-I2 isoform 2; cyclin-I2", "tax_id": 9606, "disease": "", "pathway": " (hsa:645121)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "23481700;25505266;28112194;28832583;29242379;30379171;31844290;32502341;33620152;37217939", "class_list": "", "function": "CCNI2 plays a promoting role in the progression of colorectal cancer., [RefSeq, PubMed]; Here the authors show that cyclin I-like (CCNI2), a homolog of CCNI, interacts with CDK5 and activates the kinase activity of CDK5. Different from CCNI, which colocalizes with CDK5 in the nuclei in transfected cells, CCNI2 mainly retains CDK5 in the cytoplasm as well as on the cell membrane. Erratum:[Sci Rep. 2017 Mar 15;7:44164. doi: 10.1038/srep44164. PMID: 28294125] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RNE2;B7ZMB7;B7ZMB8", "ec_number_list": [], "go_molecular_function": "GO:0016538 cyclin-dependent protein serine/threonine kinase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000307 cyclin-dependent protein kinase holoenzyme complex", "go_biological_process": "GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6ZMN8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRS4-1", "uniprot_id": [ { "id": "ITPI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRS4", "type": "external" } ], "mass": 115403.0, "length": 1044, "protein_name": "Protein ITPRID1", "gene_name": "ITPRID1", "organism": "Human", "refseq_name": "protein ITPRID1 isoform 2", "refseq_ac": [ { "id": "NP_919276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_919276", "type": "external" } ], "gene_names_uniprotkb": "ITPRID1; CCDC129", "gene_names_refseq": "CCDC129; ITPRID1", "protein_names_uniprotkb": "Protein ITPRID1; Coiled-coil domain-containing protein 129; ITPR-interacting domain-containing protein 1", "protein_names_refseq": "ITPR-interacting domain-containing protein 1; coiled-coil domain containing 129; coiled-coil domain-containing protein 129; protein ITPRID1 isoform 2; protein ITPRID1", "tax_id": 9606, "disease": "", "pathway": " (hsa:223075)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;16959974;29557506;37217939", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RU17;B3KTI9;B4DHB0;B4E2R1;F5H3V5", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6ZRS4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUS5-1", "uniprot_id": [ { "id": "CC121_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUS5", "type": "external" } ], "mass": 33061.0, "length": 278, "protein_name": "Coiled-coil domain-containing protein 121", "gene_name": "CCDC121", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 121 isoform 2", "refseq_ac": [ { "id": "NP_001136155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136155", "type": "external" } ], "gene_names_uniprotkb": "CCDC121", "gene_names_refseq": "CCDC121", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 121", "protein_names_refseq": "coiled-coil domain-containing protein 121 isoform 2; coiled-coil domain-containing protein 121", "tax_id": 9606, "disease": "", "pathway": " (hsa:79635)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;25880248;29557506;30429286;31154438;32488085;33537174;34185709;34509645;35051231;36010968;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KW66;J3KQZ8;Q9H8G6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6ZUS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UP0-1", "uniprot_id": [ { "id": "CAD24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UP0", "type": "external" } ], "mass": 87752.0, "length": 819, "protein_name": "Cadherin-24", "gene_name": "CDH24", "organism": "Human", "refseq_name": "cadherin-24 isoform 1 precursor", "refseq_ac": [ { "id": "NP_071923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071923", "type": "external" } ], "gene_names_uniprotkb": "CDH24; CDH11L; PRO34009", "gene_names_refseq": "CDH11L; CDH24", "protein_names_uniprotkb": "Cadherin-24", "protein_names_refseq": "cadherin 24, type 2; cadherin-24 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:64403); (R-HSA-418990); (R-HSA-9833576)", "pathway_count": 3, "publication_count": 26, "publication_id_list": "10225955;10861224;12050160;12734196;12975309;16467305;17967169;19354288;24898286;25372031;29731959;29789417;30410026;31611695;32157095;32350084;32938616;33592498;33912179;33981976;35051231;35251023;36010968;7806582;9219219;9845526", "class_list": "", "function": "Cadherin-24 is a novel alternatively spliced type II cadherin, [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Cadherin-24 mediate strong cell-cell adhesion., [UniProtKB, PubMed]; Unconventional CDH10, CDH24 and DCHS2 genes harbored frameshift mutations., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DS44;Q86UP1;Q9NT84", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0008013 beta-catenin binding;GO:0045294 alpha-catenin binding;GO:0070097 delta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0016342 catenin complex", "go_biological_process": "GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0098609 cell-cell adhesion;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q86UP0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYT3-1", "uniprot_id": [ { "id": "CC170_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYT3", "type": "external" } ], "mass": 82277.0, "length": 715, "protein_name": "Coiled-coil domain-containing protein 170", "gene_name": "CCDC170", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 170", "refseq_ac": [ { "id": "NP_079335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079335", "type": "external" } ], "gene_names_uniprotkb": "CCDC170; C6orf97", "gene_names_refseq": "C6orf97; CCDC170; bA282P11.1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 170", "protein_names_refseq": "coiled-coil domain-containing protein 170", "tax_id": 9606, "disease": "", "pathway": " (hsa:80129)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "20200978;25576301;27862975;28687497;29557506;30429286;32387766;32771039;33291081;33392160;33785515;35051231;35414641;35494241;37074911;39894887", "class_list": "", "function": "CCDC170 affects breast cancer apoptosis through IRE1 pathway., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in Golgi-associated microtubules organization and stabilization., [UniProtKB, PubMed]; Relationship between rs7586085, GALNT3 and CCDC170 gene polymorphisms and the risk of osteoporosis among the Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]., [RefSeq]; Therapeutic role of recurrent ESR1-CCDC170 gene fusions in breast cancer endocrine resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Three functional polymorphisms in CCDC170 were associated with osteoporosis phenotype., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5VXB7;Q6P9E4;Q96KA9;Q9H5M3", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0036064 ciliary basal body", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8IYT3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1I8-1", "uniprot_id": [ { "id": "CAAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1I8", "type": "external" } ], "mass": 22698.0, "length": 211, "protein_name": "Putative uncharacterized protein encoded by CACTIN-AS1", "gene_name": "CACTIN-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CACTIN-AS1; C19orf29-AS1; C19orf29OS", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by CACTIN-AS1; Cactin antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N1I8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1Q1-1", "uniprot_id": [ { "id": "CAH13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1Q1", "type": "external" } ], "mass": 29443.0, "length": 262, "protein_name": "Carbonic anhydrase 13", "gene_name": "CA13", "organism": "Human", "refseq_name": "carbonic anhydrase 13", "refseq_ac": [ { "id": "NP_940986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940986", "type": "external" } ], "gene_names_uniprotkb": "CA13", "gene_names_refseq": "CA13; CAXIII", "protein_names_uniprotkb": "Carbonic anhydrase 13; 4.2.1.1; CA-XIII; Carbonate dehydratase XIII; Carbonic anhydrase XIII", "protein_names_refseq": "CA-XIII; carbonate dehydratase XIII; carbonic anhydrase 13; carbonic anhydrase XIII", "tax_id": 9606, "disease": "", "pathway": " (hsa:377677); (R-HSA-1475029)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10409679;11121027;11676494;120192;14600151;14611844;15501038;1554744;15836783;16006130;16302824;17228881;17427958;17499996;17761422;18162396;18294854;18336313;18618712;18703501;20349499;20493921;20578724;2111324;21282642;2169869;22001224;234739;29393594;29557506;3080418;31431090;33588197;33968037;35251023;40801814;4994926;6407977;6433979;6819139;7625839;8083199;8356065;8399223;9054574;9336012;9635771;9784398", "class_list": "", "function": "A unique and widespread distribution pattern for CA XIII compared with the other cytosolic CA isozymes. May play important physiological roles in several organs, [RefSeq, PubMed]; Carbonic anhydrase 13 suppresses bone metastasis in breast cancer., [RefSeq, PubMed]; Catalyzes the reversible conversion of carbon dioxide to hydrogencarbonate/bicarbonate and thus is essential in the regulation of pH and metabolic processes., [UniProtKB, PubMed]; Cytosolic CA I, II, and XIII are downregulated in neoplastic colorectal mucosa compared to normal colorectal mucosa Publication Status: Online-Only, [RefSeq, PubMed]; Cytosolic carbonic anhydrase XIII may have a role in maintaining the acid-base balance in the kidney and the gastrointestinal and reproductive tracts. [review] Review article, [RefSeq, PubMed]; Investigation of residues modulating the catalytic features of one of the least investigated cytosolic isoform, hCA XIII; results showed that residues assisting the formation of an ordered solvent network within the catalytic site as well as those forming a histidine cluster on the protein surface are important to guarantee an efficient proton transfer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "4.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.1", "type": "external" }, { "id": "4.2.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.69", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004089 carbonate dehydratase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8N1Q1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7R7-1", "uniprot_id": [ { "id": "CCYL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7R7", "type": "external" } ], "mass": 40705.0, "length": 359, "protein_name": "Cyclin-Y-like protein 1", "gene_name": "CCNYL1", "organism": "Human", "refseq_name": "cyclin-Y-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001135772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135772", "type": "external" } ], "gene_names_uniprotkb": "CCNYL1", "gene_names_refseq": "CCNYL1", "protein_names_uniprotkb": "Cyclin-Y-like protein 1", "protein_names_refseq": "cyclin-Y-like protein 1 isoform 1; cyclin-Y-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:151195)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;18220336;18669648;19690332;20068231;21406692;22184064;23186163;24275569;27846572;28904123;29242379;31217245;31844290;31848261;32157095;32938616;33298915;33912179;34357683;35051231", "class_list": "", "function": "Key regulator of Wnt signaling implicated in various biological processes including male fertility, embryonic neurogenesis and cortex development. Activates the cyclin-dependent kinase CDK16, and promotes sperm maturation., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NX60", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0061575 cyclin-dependent protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0030317 flagellated sperm motility;GO:0060828 regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8N7R7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDH2-1", "uniprot_id": [ { "id": "LRTM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDH2", "type": "external" } ], "mass": 801912.0, "length": 7081, "protein_name": "Leucine-rich repeat transmembrane protein 3", "gene_name": "LRTM3", "organism": "Human", "refseq_name": "leucine-rich repeat transmembrane protein 3", "refseq_ac": [ { "id": "NP_001139669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139669", "type": "external" } ], "gene_names_uniprotkb": "LRTM3; C13orf40; CCDC168", "gene_names_refseq": "C13orf40; CCDC168; LRTM3", "protein_names_uniprotkb": "Leucine-rich repeat transmembrane protein 3; Coiled-coil domain-containing protein 168", "protein_names_refseq": "coiled-coil domain containing 168; coiled-coil domain-containing protein 168; leucine-rich repeat transmembrane protein 3; leucine-rich repeat transmembrane protein CCDC168", "tax_id": 9606, "disease": "", "pathway": " (hsa:643677)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "22706990;30379171;37340703;38253038;41350704", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 133, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N800", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NDH2-1", "record_type": "protein", "filter_code": "0000000.1000101.000010.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTZ4-1", "uniprot_id": [ { "id": "CA5BL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTZ4", "type": "external" } ], "mass": 22622.0, "length": 195, "protein_name": "Putative inactive carbonic anhydrase 5B-like protein", "gene_name": "CA5BP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CA5BP1; CA5BL; CA5B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative inactive carbonic anhydrase 5B-like protein; CA-VB-like protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 21, "publication_id_list": "25576301;25645385;26154972;26992070;27600516;27920218;28228285;28834231;29557506;30315122;31844290;31848261;32488085;32983136;33298915;33592498;33936100;35051231;35580925;36284347;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEZ4", "ec_number_list": [], "go_molecular_function": "GO:0004089 carbonate dehydratase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8WTZ4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVX3-1", "uniprot_id": [ { "id": "SRALN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVX3", "type": "external" } ], "mass": 7604.0, "length": 66, "protein_name": "Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ARLN", "gene_name": "ARLN", "organism": "Human", "refseq_name": "sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ARLN isoform 2", "refseq_ac": [ { "id": "NP_001001701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001701", "type": "external" } ], "gene_names_uniprotkb": "ARLN; C4orf3", "gene_names_refseq": "ALN; ARLN; C4orf3; HCVFTP1", "protein_names_uniprotkb": "Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ARLN; ALN; Allregulin; Another-regulin; HCV F-transactivated protein 1; Hepatitis C virus F protein-transactivated protein 1; SERCA regulator ARLN", "protein_names_refseq": "HCV F-transactivated protein 1; SERCA regulator ALN; SERCA regulator ARLN; another-regulin; hepatitis C virus F protein-transactivated protein 1; sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ALN; sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ARLN isoform 2; sarcoplasmic/endoplasmic reticulum calcium ATPase regulator ARLN; uncharacterized protein C4orf3", "tax_id": 9606, "disease": "", "pathway": " (hsa:401152)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "16174453;20332099;23481700;24715725;26154972;27397612;27846572;27862975;27920218;28510447;28832583;29242379;29557506;29632711;30779550;31154438;31844290;31848261;31937595;31998317;32157095;32502341;33123756;33141586;33936100;34211107;34433824;36523160;37938771", "class_list": "", "function": "Inhibits the activity of the calcium ATPases ATP2A2/SERCA2 and ATP2A3/SERCA3 by decreasing their apparent affinity for Ca(2+)., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock, Victor [added]; Tischfield, Jay A [added]], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6J203", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8WVX3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GE6-1", "uniprot_id": [ { "id": "CALL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GE6", "type": "external" } ], "mass": 21883.0, "length": 196, "protein_name": "Calmodulin-like protein 4", "gene_name": "CALML4", "organism": "Human", "refseq_name": "calmodulin-like protein 4 isoform 3", "refseq_ac": [ { "id": "NP_001273623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273623", "type": "external" } ], "gene_names_uniprotkb": "CALML4", "gene_names_refseq": "CALML4; NY-BR-20", "protein_names_uniprotkb": "Calmodulin-like protein 4; Serologically defined breast cancer antigen NY-BR-20", "protein_names_refseq": "calmodulin-like protein 4 isoform 3; calmodulin-like protein 4; serologically defined breast cancer antigen NY-BR-20", "tax_id": 9606, "disease": "", "pathway": " (hsa:91860)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12747765;18991276;29557506;30429286;31848261;32157095;32209652;34185709;35580925;36284347", "class_list": "", "function": "As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length. Acts as a light chain for MYO7B and is required for efficient targeting of the IMAC to the tips of border brush microvilli., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The small EF-hand protein CALML4 functions as a critical myosin light chain within the intermicrovillar adhesion complex., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DL15;F8W6Y4;Q6MZY3;Q6N048;Q9H286", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0030234 enzyme regulator activity;GO:0032028 myosin head/neck binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005902 microvillus", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:1904970 brush border assembly", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96GE6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LW7-1", "uniprot_id": [ { "id": "CAR19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LW7", "type": "external" } ], "mass": 25589.0, "length": 228, "protein_name": "Caspase recruitment domain-containing protein 19", "gene_name": "CARD19", "organism": "Human", "refseq_name": "caspase recruitment domain-containing protein 19 isoform 1", "refseq_ac": [ { "id": "NP_115686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115686", "type": "external" } ], "gene_names_uniprotkb": "CARD19; C9orf89", "gene_names_refseq": "BinCARD; C9orf89; CARD19", "protein_names_uniprotkb": "Caspase recruitment domain-containing protein 19; Bcl10-interacting CARD protein; BinCARD", "protein_names_refseq": "Bcl10-interacting protein with CARD; bcl10-interacting CARD protein; caspase recruitment domain-containing protein 19 isoform 1; caspase recruitment domain-containing protein 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:84270)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "15637807;17525332;23633586;25418920;25548167;25576301;26811146;27600516;28063628;28228285;28832583;29393594;29557506;29632046;30315122;30429286;30795865;31844290;31848261;32265295;32387766;32763502;32938616;32983136;33968037;33981976;34509645;35051231;35580925;36284347", "class_list": "", "function": "BinCARD isoform2 (BinCARD2) is a one of CARD proteins involved in apoptosis and inflammation. BinCARD2 knock down suppresses innate immune responses induced by 3pRNA, poly(I:C) and vesicular stomatitis virus (VSV)., [RefSeq, PubMed]; BinCard inhibits BCL10-mediated activation of NF-kappa B., [RefSeq, PubMed]; CARD19, the protein formerly known as BinCARD, is a mitochondrial protein that does not regulate Bcl10-dependent NF-kappaB activation after TCR engagement., [RefSeq, PubMed]; Plays a role in inhibiting the effects of BCL10-induced activation of NF-kappa-B. May inhibit the phosphorylation of BCL10 in a CARD-dependent manner., [UniProtKB, PubMed]; The crystal structure of BinCARD reveals that all three cysteines were oxidized, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5BJH8;Q9BSY2", "ec_number_list": [], "go_molecular_function": "GO:0050700 CARD domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0043124 negative regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96LW7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWT7-1", "uniprot_id": [ { "id": "CAR10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWT7", "type": "external" } ], "mass": 115931.0, "length": 1032, "protein_name": "Caspase recruitment domain-containing protein 10", "gene_name": "CARD10", "organism": "Human", "refseq_name": "caspase recruitment domain-containing protein 10", "refseq_ac": [ { "id": "NP_055365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055365", "type": "external" } ], "gene_names_uniprotkb": "CARD10; CARMA3", "gene_names_refseq": "BIMP1; CARD10; CARMA3; IMD89", "protein_names_uniprotkb": "Caspase recruitment domain-containing protein 10; CARD-containing MAGUK protein 3; Carma 3", "protein_names_refseq": "Bcl10 binding protein and activator of NFKB; CARD-containing MAGUK 3 protein; CARD-containing MAGUK protein 3; carma 3; caspase recruitment domain-containing protein 10", "tax_id": 9606, "disease": "immunodeficiency 89 (Disease Ontology:DOID:0061059)", "pathway": " (hsa:29775)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;11259443;11356195;18477386;23481700;25576301;26992070;27862975;27991920;29557506;29786170;30379171;30429286;30779550;31154438;31844290;31848261;31939627;32161166;32238915;32387766;32488085;32938616;33537174;33968037;33981976;34087483;34171305;34190011;34509645;35051231;35580925;36010968;36215666;36241641;36284347;36618379", "class_list": "", "function": "CARD10 promotes the progression of renal cell carcinoma by regulating the NFkappaB signaling pathway., [RefSeq, PubMed]; CARMA3 Transcriptional Regulation of STMN1 by NF-kappaB Promotes Renal Cell Carcinoma Proliferation and Invasion., [RefSeq, PubMed]; CARMA3: A potential therapeutic target in non-cancer diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Mutant CARD10 in a family with progressive immunodeficiency and autoimmunity., [RefSeq, PubMed]; Scaffold protein that plays an important role in mediating the activation of NF-kappa-B via BCL10 or EGFR., [UniProtKB, PubMed]; The caspase recruitment domain (CARD) is a protein module that consists of 6 or 7 antiparallel alpha helices. It participates in apoptosis signaling through highly specific protein-protein homophilic interactions. Like several other CARD proteins, CARD10 belongs to the membrane-associated guanylate kinase (MAGUK) family and activates NF-kappa-B (NFKB; see MIM 164011) through BCL10 (MIM 603517) (Wang et al., 2001 [PubMed 11259443]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14CQ8;Q5TFG6;Q8NC81;Q9UGR5;Q9UGR6;Q9Y3H0", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0032449 CBM complex", "go_biological_process": "GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:0007165 signal transduction;GO:0050776 regulation of immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9BWT7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6F5-1", "uniprot_id": [ { "id": "CCD86_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6F5", "type": "external" } ], "mass": 40236.0, "length": 360, "protein_name": "Coiled-coil domain-containing protein 86", "gene_name": "CCDC86", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 86", "refseq_ac": [ { "id": "NP_077003", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077003", "type": "external" } ], "gene_names_uniprotkb": "CCDC86; CYCLON", "gene_names_refseq": "CCDC86; Cgr1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 86; Cytokine-induced protein with coiled-coil domain", "protein_names_refseq": "coiled-coil domain-containing protein 86; cyclon; cytokine-induced protein with coiled-coil domain", "tax_id": 9606, "disease": "", "pathway": " (hsa:79080)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;15302935;15607035;16565220;16964243;17081983;17300783;17924679;18077418;18212344;18220336;18452278;18491316;18669648;18707149;18767875;19007248;19367720;19413330;19415658;19562805;19651622;19664994;19664995;19690332;19691289;19851296;20058876;20068230;20068231;20166139;20230923;21406692;22645359;23186163;23301498;23439384;24275569;24715725;26154972;26992070;27452731;27920218;28063628;28832583;28834231;29242379;29493099;29508533;29632046;30192525;30379171;30429286;31530632;31844290;31848261;32157095;32265295;32897882;32938616;33633747;33912179;33968037;34019948;34171305;35580925;36010968;36695333;37217939;38247332", "class_list": "", "function": "CCDC86 is a novel Ki-67-interacting protein important for cell division., [RefSeq, PubMed]; CCDC86 promotes the aggressive behavior of nasopharyngeal carcinoma by positively regulating EGFR and activating the PI3K/Akt signaling., [RefSeq, PubMed]; Cyclon gene encodes a phosphorylated nuclear protein consisting of repetitive sequences in the amino-terminus and a coiled-coil domain in the carboxyl-terminus, [RefSeq, PubMed]; Cyclon/CCDC68 levels correlate with the clinical presentation of relapsed schizophrenia, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for proper chromosome segregation during mitosis and error-free mitotic progression., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 29, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DY99", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005694 chromosome", "go_biological_process": "GO:0007059 chromosome segregation;GO:0140014 mitotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9H6F5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7U1-1", "uniprot_id": [ { "id": "CCSE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7U1", "type": "external" } ], "mass": 93548.0, "length": 834, "protein_name": "Serine-rich coiled-coil domain-containing protein 2", "gene_name": "CCSER2", "organism": "Human", "refseq_name": "serine-rich coiled-coil domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001271169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271169", "type": "external" } ], "gene_names_uniprotkb": "CCSER2; FAM190B; KIAA1128; NPD012", "gene_names_refseq": "CCSER2; FAM190B; Gcap14; KIAA1128; bA486O22.1", "protein_names_uniprotkb": "Serine-rich coiled-coil domain-containing protein 2; Coiled-coil serine-rich protein 2; Protein GCAP14 homolog", "protein_names_refseq": "family with sequence similarity 190, member B; protein FAM190B; protein GCAP14 homolog; serine-rich coiled-coil domain-containing protein 2 isoform 1; serine-rich coiled-coil domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54462)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;16385451;18083107;23186163;24715725;25505266;25576301;25645385;26154972;26992070;27846572;27920218;28832583;28834231;28860189;29242379;29493099;29508533;29557506;29786170;30059200;30315122;30379171;30429286;31092671;31154438;31844290;31998317;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33968037;33981976;34509645;35051231;35494241;35580925;36284347;37684684", "class_list": "", "function": "Characterization of human Ccser2 as a protein tracking the plus-ends of microtubules. Publication Status: Online-Only, [RefSeq, PubMed]; Microtubule-binding protein which might play a role in microtubule bundling., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DFY4;B4DQU9;B7WPE8;D3DWE2;Q8N6E9;Q9H2S0;Q9ULU1", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0001578 microtubule bundle formation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9H7U1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HA72-1", "uniprot_id": [ { "id": "CAHM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HA72", "type": "external" } ], "mass": 36175.0, "length": 323, "protein_name": "Calcium homeostasis modulator protein 2", "gene_name": "CALHM2", "organism": "Human", "refseq_name": "calcium homeostasis modulator protein 2", "refseq_ac": [ { "id": "NP_057000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057000", "type": "external" } ], "gene_names_uniprotkb": "CALHM2; FAM26B", "gene_names_refseq": "CALHM2; FAM26B", "protein_names_uniprotkb": "Calcium homeostasis modulator protein 2; Protein FAM26B", "protein_names_refseq": "calcium homeostasis modulator 2; calcium homeostasis modulator protein 2; family with sequence similarity 26, member B", "tax_id": 9606, "disease": "dementia (Disease Ontology:DOID:1307); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:51063)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "16385451;18585350;20164573;25576301;28467828;29242379;29393594;29632046;31776515;31844290;31848261;31988524;32350084;32832629;32938616;33968037;34561969;38896440", "class_list": "", "function": "Molecular dynamics simulations suggest that lipids can favorably assemble into a bilayer within the larger human CALHM2 pore, but not within chicken CALHM1, demonstrating the potential correlation between pore size, lipid accommodation and channel activity. Erratum:[Nat Struct Mol Biol. 2020 Mar;27(3):305. doi: 10.1038/s41594-020-0396-6. PMID: 32066965], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pore-forming subunit of Ca(2+) homeostasis modulator channels. Mediates ATP release from astrocytes and ATP-induced Ca(2+) influx in microglia thus regulating neuronal ATP and Ca(2+) homeostasis, synaptic transmission and neuroinflammatory response. May form intercellular gap junctions. The gating mechanism remains unknown., [UniProtKB, PubMed, PubMed, UniProtKB]; Shows that purified CALHM2 channels form both gap junctions and undecameric hemichannels, [RefSeq, PubMed]; Structural features of heteromeric channels composed of CALHM2 and CALHM4 paralogs. Publication Status: Online-Only, [RefSeq, PubMed]; This study failed to show an association between theeight SNPs of the CALHM2 genes and alzheimer disease. GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DR94;O95893;Q6ZUV9", "ec_number_list": [], "go_molecular_function": "GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0048167 regulation of synaptic plasticity;GO:0070509 calcium ion import;GO:1903978 regulation of microglial cell activation;GO:1904669 ATP export", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9HA72-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0B6-1", "uniprot_id": [ { "id": "CC167_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0B6", "type": "external" } ], "mass": 11459.0, "length": 97, "protein_name": "Coiled-coil domain-containing protein 167", "gene_name": "CCDC167", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 167", "refseq_ac": [ { "id": "NP_612502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612502", "type": "external" } ], "gene_names_uniprotkb": "CCDC167; C6orf129; HSPC265", "gene_names_refseq": "C6orf129; CCDC167; HSPC265", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 167", "protein_names_refseq": "coiled-coil domain-containing protein 167; transmembrane and coiled-coil domain-containing protein C6orf129", "tax_id": 9606, "disease": "", "pathway": " (hsa:154467)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "19204726;26154972;27920218;28904123;31844290;31848261;32157095;32488085;32502341;32938616;33461170;33968037;39894887", "class_list": "", "function": "CCDC167 as a potential therapeutic target and regulator of cell cycle-related networks in breast cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T7F7;Q9BTQ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9P0B6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULX7-1", "uniprot_id": [ { "id": "CAH14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULX7", "type": "external" } ], "mass": 37668.0, "length": 337, "protein_name": "Carbonic anhydrase 14", "gene_name": "CA14", "organism": "Human", "refseq_name": "carbonic anhydrase 14 precursor", "refseq_ac": [ { "id": "NP_036245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036245", "type": "external" } ], "gene_names_uniprotkb": "CA14; PRO1335", "gene_names_refseq": "CA14; CAXiV", "protein_names_uniprotkb": "Carbonic anhydrase 14; 4.2.1.1; CA-XIV; Carbonate dehydratase XIV; Carbonic anhydrase XIV", "protein_names_refseq": "CA-XIV; carbonate dehydratase XIV; carbonic anhydrase 14 precursor; carbonic anhydrase XIV; carbonic dehydratase", "tax_id": 9606, "disease": "", "pathway": " (hsa:23632); (R-HSA-1475029)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10409679;10512682;11121027;11237011;11676494;120192;12975309;14611844;15501038;1554744;16006130;16302824;16686544;16807956;17127057;17228881;17314045;17427958;17499996;17705204;17761422;17881426;18162396;18294854;18618712;18703501;19186056;19206230;20170095;20349499;20493921;20578724;2111324;21282642;21406692;2169869;22001224;234739;23481700;24374484;25645385;25892735;27600516;30429286;3080418;31844290;32157095;32488085;35251023;4994926;6407977;6433979;6819139;7625839;8083199;8356065;8399223;9054574;9336012;9635771;9784398", "class_list": "", "function": "Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]., [RefSeq]; Data indicate that carbonic anhydrase isoform XIV (hCA XIV) shows high sequence identity with the other membrane-associated carbonic anhydrases (hCAs)., [RefSeq, PubMed]; No mutation was found in the coding regions and intron-exon boundaries of the genes for CA II, CA IV, CA XIV, kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic DNA of family members with pRTA., [RefSeq, PubMed]; Results indicate that some derivatives showed potent hCA IX and hCA XIV inhibitory effects at nanomolar concentrations as well as low affinity for the ubiquitous hCA II., [RefSeq, PubMed]; Reversible hydration of carbon dioxide., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5TB24;Q8NCF4", "ec_number_list": [ { "id": "4.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.1", "type": "external" }, { "id": "4.2.1.69", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.69", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004089 carbonate dehydratase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9ULX7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVG4-1", "uniprot_id": [ { "id": "CC194_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVG4", "type": "external" } ], "mass": 24954.0, "length": 234, "protein_name": "Coiled-coil domain-containing protein 194", "gene_name": "CCDC194", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 194 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001382151", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382151", "type": "external" } ], "gene_names_uniprotkb": "CCDC194", "gene_names_refseq": "CCDC194", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 194", "protein_names_refseq": "coiled-coil domain-containing protein 194 isoform 2 precursor; coiled-coil domain-containing protein 194", "tax_id": 9606, "disease": "", "pathway": " (hsa:110806280)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GVG4-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D256-1", "uniprot_id": [ { "id": "CC14C_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D256", "type": "external" } ], "mass": 51614.0, "length": 447, "protein_name": "Dual specificity protein phosphatase CDC14C", "gene_name": "CDC14C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CDC14C; CDC14B2; CDC14Bretro", "gene_names_refseq": "", "protein_names_uniprotkb": "Dual specificity protein phosphatase CDC14C; 3.1.3.16; 3.1.3.48; CDC14 cell division cycle 14 homolog C", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "16201836;18547142;29437277;30379171;31844290;32488085", "class_list": "", "function": "Dual-specificity phosphatase. Preferentially dephosphorylates proteins modified by proline-directed kinases (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2VIP7;Q6NUS3;Q8NCT2", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0072686 mitotic spindle", "go_biological_process": "GO:0060271 cilium assembly;GO:0000226 microtubule cytoskeleton organization;GO:0007096 regulation of exit from mitosis;GO:0032467 positive regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A4D256-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NF36-1", "uniprot_id": [ { "id": "CC182_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NF36", "type": "external" } ], "mass": 17536.0, "length": 153, "protein_name": "Coiled-coil domain-containing protein 182", "gene_name": "CCDC182", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 182", "refseq_ac": [ { "id": "NP_001269473", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269473", "type": "external" } ], "gene_names_uniprotkb": "CCDC182", "gene_names_refseq": "CCDC182", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 182", "protein_names_refseq": "coiled-coil domain-containing protein 182; coiled-coil domain-containing protein ENSP00000299415", "tax_id": 9606, "disease": "", "pathway": " (hsa:101927581)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0008585 female gonad development", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NF36-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHX0-1", "uniprot_id": [ { "id": "CAST2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHX0", "type": "external" } ], "mass": 36056.0, "length": 329, "protein_name": "Cytosolic arginine sensor for mTORC1 subunit 2", "gene_name": "CASTOR2", "organism": "Human", "refseq_name": "cytosolic arginine sensor for mTORC1 subunit 2", "refseq_ac": [ { "id": "NP_001138536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138536", "type": "external" } ], "gene_names_uniprotkb": "CASTOR2; GATSL1; GATSL2", "gene_names_refseq": "CASTOR2; GATSL1; GATSL2", "protein_names_uniprotkb": "Cytosolic arginine sensor for mTORC1 subunit 2; Cellular arginine sensor for mTORC1 protein 2; GATS-like protein 2", "protein_names_refseq": "GATS protein like 2; GATS protein-like 1; GATS-like protein 1; GATS-like protein 2; cellular arginine sensor for mTORC1 protein 2; cytosolic arginine sensor for mTORC1 subunit 1; cytosolic arginine sensor for mTORC1 subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:729438); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "15854902;15878852;16098514;17470430;18497260;18604198;20381137;22053050;22575674;22980980;23723238;24081491;24095279;25259925;25263562;25457612;25561175;25567906;25819761;26449471;26586190;26972053;26992070;27308486;27487210;27600516;27648300;28066558;28199306;28199315;28904123;29053970;29056322;29123071;29236692;29393594;29557506;30061680;30181260;30429286;30484775;30651352;31217245;31844290;32157095;32488085;32938616;33912179;33968037;34087483;34171305;35051231;35580925;36010968;36215666;36241641;37938771;7499430", "class_list": "", "function": "Functions as a negative regulator of the TORC1 signaling pathway through the GATOR complex. As part of homodimers or heterodimers with CASTOR1, directly binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Does not directly bind arginine, but binding of arginine to CASTOR1 disrupts the interaction of CASTOR2-containing heterodimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway., [UniProtKB, PubMed]; Study establishes the CASTOR1 homodimer and CASTOR1-CASTOR2 heterodimer as arginine sensors for the mTORC1 pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NNH0;B9EJH9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:1903577 cellular response to L-arginine;GO:1904262 negative regulation of TORC1 signaling", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "A6NHX0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MXV6-1", "uniprot_id": [ { "id": "CD15L_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MXV6", "type": "external" } ], "mass": 30100.0, "length": 281, "protein_name": "CMT1A duplicated region transcript 15 protein-like protein", "gene_name": "CDRT15L2", "organism": "Human", "refseq_name": "CMT1A duplicated region transcript 15 protein-like protein", "refseq_ac": [ { "id": "NP_001177719", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177719", "type": "external" } ], "gene_names_uniprotkb": "CDRT15L2", "gene_names_refseq": "CDRT15L2", "protein_names_uniprotkb": "CMT1A duplicated region transcript 15 protein-like protein", "protein_names_refseq": "CMT1A duplicated region transcript 15 protein-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:256223)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;22299025;26758079;31637018;38253038", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A8MXV6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60359-1", "uniprot_id": [ { "id": "CCG3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60359", "type": "external" } ], "mass": 35549.0, "length": 315, "protein_name": "Voltage-dependent calcium channel gamma-3 subunit", "gene_name": "CACNG3", "organism": "Human", "refseq_name": "voltage-dependent calcium channel gamma-3 subunit", "refseq_ac": [ { "id": "NP_006530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006530", "type": "external" } ], "gene_names_uniprotkb": "CACNG3", "gene_names_refseq": "CACNG3", "protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-3 subunit; Neuronal voltage-gated calcium channel gamma-3 subunit; TARP gamma-3; Transmembrane AMPAR regulatory protein gamma-3", "protein_names_refseq": "TARP gamma-3; calcium channel, voltage-dependent, gamma subunit 3; neuronal voltage-gated calcium channel gamma-3 subunit; transmembrane AMPAR regulatory protein gamma-3; voltage-dependent calcium channel gamma-3 subunit; voltage-gated calcium channel gamma subunit", "tax_id": 9606, "disease": "childhood absence epilepsy (Disease Ontology:DOID:1825); macular degeneration (Disease Ontology:DOID:4448)", "pathway": " (hsa:10368); (R-HSA-399719); (R-HSA-5682910)", "pathway_count": 3, "publication_count": 16, "publication_id_list": "10221464;14505496;16990550;17264864;17387609;18311135;18628660;18974846;20162351;20220021;20461023;21169531;21829378;28411811;33298915;37697240", "class_list": "", "function": "CACNG3 on chromosome 16p12-p13.1 may represent susceptibility loci for CAE. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Erratum:[Eur J Hum Genet. 2008 May;16(5):659-60], [RefSeq, PubMed]; Examined distribution of the stargazin-like proteins gamma2, gamma3, and gamma4 in human CNS: gamma2 is expressed in cerebellum, cerebral cortex, hippocampus and thalamus, whereas gamma3 abounds in cerebral cortex & amygdala and gamma4 in basal ganglia Publication Status: Online-Only, [RefSeq, PubMed]; Integrated profiling identifies CACNG3 as a prognostic biomarker for patients with glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the trafficking to the somatodendritic compartment and gating properties of AMPA-selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state., [UniProtKB, UniProtKB]; The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 2010]., [RefSeq]; These results suggest that CACNG3 is the best candidate for an age-related macular degeneration risk gene within the 16p12 linkage peak. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030165 PDZ domain binding;GO:0005245 voltage-gated calcium channel activity;GO:0035255 ionotropic glutamate receptor binding;GO:0016247 channel regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0030666 endocytic vesicle membrane;GO:0032281 AMPA glutamate receptor complex", "go_biological_process": "GO:0006605 protein targeting;GO:0006816 calcium ion transport;GO:0051968 positive regulation of synaptic transmission, glutamatergic;GO:0019226 transmission of nerve impulse;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "O60359-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75828-1", "uniprot_id": [ { "id": "CBR3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75828", "type": "external" } ], "mass": 30850.0, "length": 277, "protein_name": "Carbonyl reductase [NADPH] 3", "gene_name": "CBR3", "organism": "Human", "refseq_name": "carbonyl reductase [NADPH] 3", "refseq_ac": [ { "id": "NP_001227", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001227", "type": "external" } ], "gene_names_uniprotkb": "CBR3; SDR21C2", "gene_names_refseq": "CBR3; HEL-S-25; SDR21C2; hCBR3", "protein_names_uniprotkb": "Carbonyl reductase [NADPH] 3; 1.1.1.184; 1.6.5.10; NADPH-dependent carbonyl reductase 3; Quinone reductase CBR3; Short chain dehydrogenase/reductase family 21C member 2", "protein_names_refseq": "NADPH-dependent carbonyl reductase 3; carbonyl reductase (NADPH) 3; carbonyl reductase [NADPH] 3; epididymis secretory protein Li 25; quinone reductase CBR3; short chain dehydrogenase/reductase family 21C member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:874); (R-HSA-211945)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;10445380;10728668;10945627;11154734;11422004;11592776;12725862;12732646;1351198;15350128;15492766;15523003;15535985;15537833;16614850;16765324;17400359;18254726;18256025;18285471;18493841;19053771;19588076;19764817;19841672;20007405;20177059;20422440;20542992;22700792;22813719;23616950;23953689;24423752;24677340;24900196;25144769;25425164;25446851;25923589;2897122;30125887;32152082;32171872;32187464;32205870;32210741;32938616;32945466;33968037;38665916;7980644;8985016;9169443;9367528;9653080;9740676", "class_list": "", "function": "CBR3 730G>A is significantly associated with recurrence- free survival in patients who received intravesical chemotherapy with pirarubicin after complete transurethral resection., [RefSeq, PubMed]; Carbonyl reductase 3 catalyzes the reduction of a large number of biologically and pharmacologically active carbonyl compounds to their corresponding alcohols. The enzyme is classified as a monomeric NADPH-dependent oxidoreductase. CBR3 contains three exons spanning 11.2 kilobases and is closely linked to another carbonyl reductase gene - CBR1. [provided by RefSeq, Jul 2008]., [RefSeq]; Carbonyl reductase has an important function in modifying the metastatic behavior of malignant tumors., [RefSeq, PubMed]; Catalyzes the NADPH-dependent reduction of carbonyl compounds to their corresponding alcohols (PubMed:18493841). Has low NADPH-dependent oxidoreductase activity. Acts on several orthoquinones, acts as well on non-quinone compounds, such as isatin or on the anticancer drug oracin (PubMed:15537833, PubMed:18493841, PubMed:19841672). Best substrates for CBR3 is 1,2- naphthoquinone, hence could play a role in protection against cytotoxicity of exogenous quinones (PubMed:19841672). Exerts activity toward ortho-quinones but not paraquinones. No endogenous substrate for CBR3 except isatin has been identified (PubMed:19841672)., [UniProtKB, PubMed, PubMed, PubMed]; Decreased Carbonyl Reductase expression in epithelial ovarian cancer is associated with RLN metastasis and poor survival, [RefSeq, PubMed]; Long noncoding RNA CBR3 antisense RNA 1 promotes the aggressive phenotypes of nonsmallcell lung cancer by sponging microRNA5093p and competitively upregulating HDAC9 expression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6FHP2", "ec_number_list": [ { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.6.5.10", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.10", "type": "external" }, { "id": "1.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.2", "type": "external" }, { "id": "1.1.1.189", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.189", "type": "external" }, { "id": "1.1.1.197", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.197", "type": "external" }, { "id": "1.1.1.196", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.196", "type": "external" }, { "id": "1.1.1.71", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.71", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.100", "type": "external" } ], "go_molecular_function": "GO:0000253 3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activity;GO:0008753 NADPH dehydrogenase (quinone) activity;GO:0070402 NADPH binding;GO:0004090 carbonyl reductase (NADPH) activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol", "go_biological_process": "GO:0050890 cognition;GO:0006805 xenobiotic metabolic process;GO:0042376 phylloquinone catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "O75828-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07498-1", "uniprot_id": [ { "id": "CASK_HUMAN", "url": "https://www.uniprot.org/uniprot/P07498", "type": "external" } ], "mass": 20305.0, "length": 182, "protein_name": "Kappa-casein", "gene_name": "CSN3", "organism": "Human", "refseq_name": "kappa-casein precursor", "refseq_ac": [ { "id": "NP_005203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005203", "type": "external" } ], "gene_names_uniprotkb": "CSN3; CASK; CSN10; CSNK", "gene_names_refseq": "CNS10; CSN10; CSN3; CSNK; KCA", "protein_names_uniprotkb": "Kappa-casein", "protein_names_refseq": "kappa-casein precursor; kappa-casein", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); atopic dermatitis (Disease Ontology:DOID:3310)", "pathway": " (hsa:1448); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10191473;10571941;11326272;11326338;11401429;12297987;12297989;12951058;1296818;13130483;14984739;15804357;17166836;18057121;18347014;1840603;18505157;18930737;19262752;1955075;19717468;22092935;22119785;22536414;22649030;23169667;24725410;24790029;26620797;26635246;26824658;27102039;29786170;3342257;4018271;7460900;7615546;7619062;7749638;8863730;9114041;9537412", "class_list": "", "function": "CSN3 was found to contain an interesting coding polymorphism as well as containing excess rare variation as compared with the other genes evaluated in cerebral ischemia patients., [RefSeq, PubMed]; Human milk plasma protein exterts an apoptotic effect on MCF-7 adenocarcinoma cells., [RefSeq, PubMed]; Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 8, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 11, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 11, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q13575", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0050821 protein stabilization;GO:0007595 lactation", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P07498-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13688-1", "uniprot_id": [ { "id": "CEAM1_HUMAN", "url": "https://www.uniprot.org/uniprot/P13688", "type": "external" } ], "mass": 57560.0, "length": 526, "protein_name": "Cell adhesion molecule CEACAM1", "gene_name": "CEACAM1", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001020083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020083", "type": "external" } ], "gene_names_uniprotkb": "CEACAM1; BGP1; BGP", "gene_names_refseq": "BGP1; BGPI; BGP; CEACAM1", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM1; BGP-1; Biliary glycoprotein 1; CEA cell adhesion molecule 1; Carcinoembryonic antigen-related cell adhesion molecule 1", "protein_names_refseq": "CD66a antigen; antigen CD66; carcinoembryonic antigen related cell adhesion molecule 1; carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein); cell adhesion molecule CEACAM1 isoform 2 precursor; cell adhesion molecule CEACAM1", "tax_id": 9606, "disease": "", "pathway": " (hsa:634); (R-HSA-1566977); (R-HSA-202733); (R-HSA-6798695); (R-HSA-9854909)", "pathway_count": 5, "publication_count": 124, "publication_id_list": "37268159;10.1101/2023.09.13.557529;10375532;10436421;10559916;10606205;10764623;11035932;11207550;11237011;11256994;11501563;11564780;11694516;11779189;11812992;11850617;11994468;12070135;12208882;12469115;12782713;14522961;14529530;14615387;15000751;15467833;15528364;15681301;15721307;1591491;16246332;16258728;16291724;16297198;16335952;16585556;16691243;16737840;16783819;16929097;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18424730;19159218;19279206;2025273;2045422;20690820;21193412;21659548;23090970;23650620;23696226;23945545;24043627;24139804;24190977;24302721;2457922;24764293;25363763;2537311;2538457;25645385;26483485;27397612;29351928;29391424;29557506;29558679;29741879;29789417;31154438;31848261;32157095;32835655;33912179;34171305;34357683;35051231;37074911;37531413;38077351;38381498;38385338;3872795;39168268;40914422;468991;6643500;7478590;7509040;7521878;7628460;8018919;8055923;8163559;8166770;8314844;8423792;8692836;9052782;9169774;9242610;9295288;9382878;9693095;9763524;9867848", "class_list": "", "function": "Alternative splicing of CEACAM1 by hypoxia-inducible factor-1alpha enhances tolerance to hepatic ischemia in mice and humans., [RefSeq, PubMed]; Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Promotes populations of T cells regulating IgA production and secretion associated with control of the commensal microbiota and resistance to enteropathogens (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Conditional deletion of CEACAM1 in hepatic stellate cells causes their activation., [RefSeq, PubMed]; Loss of CEACAM1 in hepatocytes causes hepatic fibrosis., [RefSeq, PubMed]; Spliced CEACAM1: A Potential Novel Biomarker and Target for Ameliorating Liver Ischemia-reperfusion Injury., [RefSeq, PubMed]; The role of carcinoembryonic antigen-related cell adhesion molecule 1 in cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 7, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 15, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 16, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 16, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 53, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 47, "disease_count": 0, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "A6NE38;A8MY49;O60430;Q069I7;Q13854;Q13857;Q13858;Q13859;Q13860;Q15600;Q15601;Q16170;Q5UB49;Q7KYP5;Q96CA7;Q9UQV9", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005516 calmodulin binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007229 integrin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 18.9, "record_id": "P13688-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H788-1", "uniprot_id": [ { "id": "SH24A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H788", "type": "external" } ], "mass": 52727.0, "length": 454, "protein_name": "SH2 domain-containing protein 4A", "gene_name": "SH2D4A", "organism": "Human", "refseq_name": "SH2 domain-containing protein 4A isoform a", "refseq_ac": [ { "id": "NP_001167630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167630", "type": "external" } ], "gene_names_uniprotkb": "SH2D4A; PPP1R38; SH2A", "gene_names_refseq": "PPP1R38; SH2A; SH2D4A", "protein_names_uniprotkb": "SH2 domain-containing protein 4A; Protein SH(2)A; Protein phosphatase 1 regulatory subunit 38", "protein_names_refseq": "SH2 domain-containing protein 4A isoform a; SH2 domain-containing protein 4A; protein SH(2)A; protein phosphatase 1 regulatory subunit 38", "tax_id": 9606, "disease": "", "pathway": " (hsa:63898)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;12476414;16964243;17016520;17081983;17322306;17389395;18212344;18452278;18641339;18669648;18707149;18767875;19415658;19651622;19664994;19712589;19901323;20068231;20166139;21406692;23186163;24275569;26992070;28832583;28834231;29393594;29632711;30379171;30833945;32161166;33592498;33968037;34087483;34171305;34893760;35051231;35580925;36284347;38043670;40596516", "class_list": "", "function": "Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function., [UniProtKB, PubMed, PubMed]; SH2D4A downregulation due to loss of chromosome 8p is associated with poor prognosis and low T cell infiltration in colorectal cancer., [RefSeq, PubMed]; SH2D4A inhibits esophageal squamous cell carcinoma progression through FAK/PI3K/AKT signaling pathway., [RefSeq, PubMed]; SH2D4A is dispensable for TCR signal transduction in T cells, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DDR1;Q5XKC1;Q6NXE9;Q86YM2;Q96C88;Q9H7F7", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9H788-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD67-1", "uniprot_id": [ { "id": "MYO10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD67", "type": "external" } ], "mass": 237347.0, "length": 2058, "protein_name": "Unconventional myosin-X", "gene_name": "MYO10", "organism": "Human", "refseq_name": "unconventional myosin-X", "refseq_ac": [ { "id": "NP_036466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036466", "type": "external" } ], "gene_names_uniprotkb": "MYO10; KIAA0799", "gene_names_refseq": "MYO10; MyoX", "protein_names_uniprotkb": "Unconventional myosin-X; Unconventional myosin-10", "protein_names_refseq": "unconventional myosin-10; unconventional myosin-X; unconventionnal myosin-X", "tax_id": 9606, "disease": "", "pathway": " (hsa:4651); (R-HSA-2029482); (R-HSA-373752); (R-HSA-9664422)", "pathway_count": 4, "publication_count": 122, "publication_id_list": "10219243;10496324;10559936;10610710;10724160;10781580;10878810;10984435;10995437;11157975;11231582;11237011;11276226;11278486;11278607;11329366;11340081;11553796;11747816;11804587;11829459;11854399;12055636;12105426;12154370;12189515;12213210;12235133;12743368;1314888;14676198;15040784;15452139;15657136;16262445;16371656;16546099;16641196;16702231;16762451;16880808;16894163;17081983;17174565;17188549;17202194;17308335;18070890;18391171;18491316;18570893;19664994;19741094;19955216;20068231;20682791;21037092;21321230;21419341;21642953;22869377;22898188;23012428;23481700;23675550;2474607;25576301;25645385;26992070;27397612;27580874;27600516;27846572;27862975;29242379;29331515;29393594;29557506;29786170;29789417;30524438;30779550;31844290;32157095;32387766;32488085;32938616;32983136;33141586;33537174;33592498;33630763;33912179;33968037;33981976;34171305;34185709;34405274;34509645;34525374;35051231;35318648;35470858;35494241;35580925;35912545;36010968;36241641;36283390;36284347;37200188;37217939;7848918;8809042;8986718;9600938;9705280;9799231;9843499;9858595;9883880;9885284", "class_list": "", "function": "Functions as a dominant-negative regulator of isoform 1, suppressing its filopodia-inducing and axon outgrowth-promoting activities. In hippocampal neurons, it increases VASP retention in spine heads to induce spine formation and spine head expansion (By similarity)., [UniProtKB, UniProtKB]; MYO10 contributes to the malignant phenotypes of colorectal cancer via RACK1 by activating integrin/Src/FAK signaling., [RefSeq, PubMed]; MYO10 promotes transzonal projection-dependent germ line-somatic contact during mammalian folliculogenesisdagger., [RefSeq, PubMed]; MYO10 regulates genome stability and cancer inflammation through mediating mitosis., [RefSeq, PubMed]; MYO10-filopodia support basement membranes at pre-invasive tumor boundaries., [RefSeq, PubMed]; Myosin-X and talin modulate integrin activity at filopodia tips., [RefSeq, PubMed]; Myosins are actin-based motor molecules with ATPase activity. Unconventional myosins serve in intracellular movements. MYO10 binds to actin filaments and actin bundles and functions as a plus end-directed motor. Moves with higher velocity and takes larger steps on actin bundles than on single actin filaments (PubMed:27580874). The tail domain binds to membranous compartments containing phosphatidylinositol 3,4,5-trisphosphate or integrins, and mediates cargo transport along actin filaments. Regulates cell shape, cell spreading and cell adhesion. Stimulates the formation and elongation of filopodia. In hippocampal neurons it induces the formation of dendritic filopodia by trafficking the actin-remodeling protein VASP to the tips of filopodia, where it promotes actin elongation. Plays a role in formation of the podosome belt in osteoclasts., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the myosin superfamily. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-10 (MYH10). Unconventional myosins contain the basic domains of conventional myosins and are further distinguished from class members by their tail domains. This gene functions as an actin-based molecular motor and plays a role in integration of F-actin and microtubule cytoskeletons during meiosis. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7E2D1;O94893;Q8IVX5;Q9NYM7;Q9P110;Q9P111;Q9UHF6", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0051015 actin filament binding;GO:0030507 spectrin binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005938 cell cortex;GO:0030027 lamellipodium;GO:0043025 neuronal cell body", "go_biological_process": "GO:0007165 signal transduction;GO:0008360 regulation of cell shape;GO:0051489 regulation of filopodium assembly;GO:0030705 cytoskeleton-dependent intracellular transport", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q9HD67-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWN1-1", "uniprot_id": [ { "id": "PRR14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWN1", "type": "external" } ], "mass": 64328.0, "length": 585, "protein_name": "Proline-rich protein 14", "gene_name": "PRR14", "organism": "Human", "refseq_name": "proline-rich protein 14", "refseq_ac": [ { "id": "NP_001307393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307393", "type": "external" } ], "gene_names_uniprotkb": "PRR14", "gene_names_refseq": "PRR14", "protein_names_uniprotkb": "Proline-rich protein 14", "protein_names_refseq": "proline-rich protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:78994)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;19413330;23481700;24209742;24275569;24715725;25418920;25469497;25576301;25906157;26154972;26375851;26992070;27041574;27920218;28063628;28228285;28832583;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30484775;31154438;31596887;31844290;31848261;31937595;31998317;32157095;32265295;32317397;32387766;32502341;33141586;33298915;33936100;34171305;34211107;34561969;34932366;35051231;35254053;36241641;36284347", "class_list": "", "function": "Functions in tethering peripheral heterochromatin to the nuclear lamina during interphase, possibly through the interaction with heterochromatin protein CBX5/HP1 alpha (PubMed:24209742). Might play a role in reattaching heterochromatin to the nuclear lamina at mitotic exit (PubMed:24209742). Promotes myoblast differentiation during skeletal myogenesis, possibly by stimulating transcription factor MyoD activity via binding to CBX5/HP1 alpha (PubMed:25906157). Involved in the positive regulation of the PI3K-Akt-mTOR signaling pathway and in promoting cell proliferation, possibly via binding to GRB2 (PubMed:27041574)., [UniProtKB, PubMed, PubMed, PubMed]; PRR14 may promote the progression and metastasis of colon cancer, and may be a novel prognostic and therapeutic marker for the disease. Publication Status: Online-Only, [RefSeq, PubMed]; The PRR14 heterochromatin tether encodes modular domains that mediate and regulate nuclear lamina targeting. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; The results altogether support a model in which PRR14 promotes skeletal myogenesis via supporting nuclear lamina structure and enhancing the activity of MyoD. Publication Status: Online-Only, [RefSeq, PubMed]; The stepwise reassembly of PRR14 suggests a function in the selection of heterochromatin protein 1-bound heterochromatin for reattachment to the nuclear lamina as cells exit mitosis., [RefSeq, PubMed]; We show that increased PRR14 expression promoted and reduced PRR14 expression impeded lung cancer cell proliferation. Interestingly, PRR14 cells were markedly enlarged in size and exhibited an elevated activity of the PI3-kinase/Akt/mTOR pathway, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8WTX2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005694 chromosome;GO:0005652 nuclear lamina", "go_biological_process": "GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9BWN1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75496-1", "uniprot_id": [ { "id": "GEMI_HUMAN", "url": "https://www.uniprot.org/uniprot/O75496", "type": "external" } ], "mass": 23565.0, "length": 209, "protein_name": "Geminin", "gene_name": "GMNN", "organism": "Human", "refseq_name": "geminin", "refseq_ac": [ { "id": "NP_001238918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238918", "type": "external" } ], "gene_names_uniprotkb": "GMNN", "gene_names_refseq": "GMNN; Gem; MGORS6", "protein_names_uniprotkb": "Geminin", "protein_names_refseq": "geminin", "tax_id": 9606, "disease": "Meier-Gorlin syndrome 6 (Disease Ontology:DOID:0080517)", "pathway": " (hsa:51053); (R-HSA-68867); (R-HSA-68962); (R-HSA-69052)", "pathway_count": 4, "publication_count": 129, "publication_id_list": "10373557;10518787;10523313;10757793;10846177;10882098;10884341;11095689;11125146;11237011;11248027;11562349;12045100;12364596;12429841;12551974;12745091;14672932;14993212;15260975;15313623;15378034;15389519;16824194;17234884;17287340;17485488;18669648;19608861;19896182;19906994;20068231;20129055;21543332;21993680;22424782;22544926;22615398;22645314;22898188;23186163;23481700;23603117;23695679;23851460;24064211;24714562;24715725;24789045;25231993;25418920;25645385;25892735;26154972;26222030;26375851;26637980;26728094;26992070;27249176;27600516;27846572;27893789;27920218;28063628;28228285;28514659;28832583;28834231;29242379;29331515;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30379171;30429286;30484775;30524438;30833945;31373491;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34078123;34087483;34171305;34211107;34405274;34509645;34561969;34874226;34932366;35051231;35154160;35318648;35580925;36010968;36215666;36241641;36284347;36539849;36807748;36945759;37938771;9635433;9660782", "class_list": "", "function": "Alterations in the spatiotemporal expression pattern of geminin during human epidermal morphogenesis., [RefSeq, PubMed]; Elevated levels in human cytomegalovirus infected fibroblasts, [RefSeq, PubMed]; Expression of geminin is frequently deregulated in tumor cells and might play an important role in the regulation of cell growth in both normal and malignant cells., [RefSeq, PubMed]; High expression of GMNN predicts malignant progression and poor prognosis in ACC. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC) (PubMed:14993212, PubMed:20129055, PubMed:24064211, PubMed:9635433). It is degraded during the mitotic phase of the cell cycle (PubMed:14993212, PubMed:24064211, PubMed:9635433). Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle (PubMed:14993212, PubMed:24064211, PubMed:9635433). Inhibits histone acetyltransferase activity of KAT7/HBO1 in a CDT1-dependent manner, inhibiting histone H4 acetylation and DNA replication licensing (PubMed:20129055). Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control (PubMed:22615398)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Prognostic value of HPV 16/18 genotyping and geminin mRNA quantification in low-grade cervical squamous intraepithelial lesion., [RefSeq, PubMed]; RAD51/geminin/gammaH2AX immunohistochemical expression predicts platinum-based chemotherapy response in ovarian high-grade serous carcinoma., [RefSeq, PubMed]; Results show that geminin, cdt1 and cdc6 are differentially regulated during megakaryocytic differentiation and suggest an active role of cdc6 in endomitosis., [RefSeq, PubMed]; This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KMM8;Q9H1Z1", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding;GO:0003712 transcription coregulator activity;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0030174 regulation of DNA-templated DNA replication initiation;GO:2000104 negative regulation of DNA-templated DNA replication;GO:0045892 negative regulation of DNA-templated transcription;GO:0007346 regulation of mitotic cell cycle;GO:0006275 regulation of DNA replication", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "O75496-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07602-1", "uniprot_id": [ { "id": "SAP_HUMAN", "url": "https://www.uniprot.org/uniprot/P07602", "type": "external" } ], "mass": 58113.0, "length": 524, "protein_name": "Prosaposin", "gene_name": "PSAP", "organism": "Human", "refseq_name": "prosaposin isoform b preproprotein", "refseq_ac": [ { "id": "NP_001035930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035930", "type": "external" } ], "gene_names_uniprotkb": "PSAP; GLBA; SAP1", "gene_names_refseq": "GLBA; PARK24; PSAPD; PSAP; SAP1; SAP2", "protein_names_uniprotkb": "Prosaposin; A1 activator; CSAct; Cerebroside sulfate activator; Co-beta-glucosidase; Component C; Dispersin; Glucosylceramidase activator; Proactivator polypeptide; Protein A; Protein C; SAP-1; SAP-2; Sphingolipid activator protein 1; Sphingolipid activator protein 2; Sulfatide/GM1 activator", "protein_names_refseq": "precursor of saposins; proactivator polypeptide; prosaposin isoform b preproprotein; saposin-A; saposin-B; saposin-C; saposin-D; sphingolipid activator protein-1; sphingolipid activator protein-2", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); atypical Gaucher's disease due to saposin c deficiency (Disease Ontology:DOID:0110961); combined saposin deficiency (Disease Ontology:DOID:0111330); metachromatic leukodystrophy (Disease Ontology:DOID:10581); Krabbe disease (Disease Ontology:DOID:10587); Krabbe disease due to saposin A deficiency (MONDO:MONDO:0012720); Parkinson disease 24, autosomal dominant, susceptibility to (MONDO:MONDO:0859183)", "pathway": " (hsa:5660); (R-HSA-114608); (R-HSA-375276); (R-HSA-418594); (R-HSA-6798695); (R-HSA-9840310)", "pathway_count": 6, "publication_count": 347, "publication_id_list": "10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10079109;10100623;10191093;10196694;10381885;10383054;10406958;10421367;10421368;10438732;10461880;10498338;10499587;10510427;10562467;10604470;10682309;10781797;10823942;10854085;10861246;10899166;10942779;10993717;11007482;11180632;11237011;11309366;11322507;11350180;11385580;11457843;11489889;11562423;11683476;11707436;11773063;11784319;12120503;12374214;12427552;12510003;12518053;12540846;12566438;12594539;12662933;12719537;1280419;12813057;12885774;12888274;12909021;12956774;1314587;1317848;1325670;1337145;1346068;1352293;1352993;1371116;1435334;14463577;14550283;14573733;14630798;14657016;15003450;15139756;15213228;15297306;15458386;15539556;1567413;15714521;15773042;15845354;15947423;15951850;1612590;16229686;16230343;1634229;16478472;16517606;1655761;16595074;16634148;16698036;1670590;1678251;16905746;16923326;1710450;17105727;1710578;1718266;1719979;1720305;1722333;1740330;17561962;1756715;17919309;18127230;1840600;18434541;1847994;18524657;18577758;1889421;1907800;1915858;19159218;19167329;19224915;19405096;1958198;19836391;2001789;2013321;2019586;2060627;20728381;2110822;21835174;2209618;22299025;22431521;22661428;2302219;23090970;2320574;23328677;23345538;23446738;235289;23584533;23640497;23650620;23690594;239890;24190977;24906252;2498298;2515150;2534964;25502872;2562955;25810538;25813380;26154972;26370502;2649896;26791533;26992070;2717620;2748346;27496565;27600516;28126847;28228285;2825202;2834384;28411811;2842863;2845979;28467828;28510447;28649982;28657654;2868718;28832583;28834231;28871256;28904123;29242379;29249144;29314611;29391424;29437277;29443946;29557506;2960521;29632711;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29786170;29802621;30059200;3014515;30237853;30315122;3048308;30573663;31154438;31217245;3136930;31495489;31530632;3158659;31611695;31637018;31844290;31848261;3202875;32125861;32157095;32201884;32350084;32357974;32387766;3242555;32488085;32502341;32938616;32983136;33043033;33298915;33392160;33592498;3366244;33912179;33936100;33968037;33981976;34019948;34089345;34185709;34357683;3442600;34433824;34509645;3456607;34725712;34932366;35051231;35154160;35251023;3525564;35289036;35580925;35633503;36010968;36215666;36240223;36241641;37074911;37269057;37541260;38206457;38207022;3856870;38665916;39302247;39531497;39940;40307207;40596516;41350704;5135907;5164093;527942;5822067;6274691;6281660;6373251;6457647;6589611;7057924;7504405;7524088;7590751;7592910;7592911;7624359;7628016;7730378;7744740;7797512;7852280;7866401;7905839;7937899;8015379;8035319;8062389;8063797;8185598;8185599;8201839;8203897;8248172;8262201;8281145;8294032;8323276;8344278;8370464;8370580;8373420;8381365;8383682;8395824;8399327;8406495;8440682;8463333;8467233;8503909;8573994;8591035;8615752;8663398;8666380;8692836;8702752;873923;8804427;8823230;8889578;8955159;8985184;9171878;9217013;9338580;9520418;9521323;9521684;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Acts as a lysosomal activator protein that stimulates acid ceramidase (EC 3.5.1.23) by solubilizing and presenting ceramide substrates at the lipid-water interface, facilitating their hydrolysis into sphingosine and fatty acids. It also activates acid sphingomyelinase (EC 3.1.4.12), though ceramide catabolism represents its primary physiological role., [UniProtKB, PubMed, PubMed, PubMed]; Acts as an essential lysosomal cofactor that activates acid beta-glucosylceramidases (EC 3.2.1.45) by altering lipid bilayer properties to facilitate enzyme access to its membrane-embedded glucosylceramide substrate, while also protecting glucocerebrosidase from intralysosomal proteolytic degradation., [UniProtKB, PubMed, PubMed]; Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling., [UniProtKB, UniProtKB, PubMed]; Hyperglycosylation of prosaposin in tumor dendritic cells drives immune escape., [RefSeq, PubMed]; Meta-analysis of the association of prosaposin polymorphisms rs4747203 and rs885828 with risk of Parkinson's disease., [RefSeq, PubMed]; Prosaposin, tumor-secreted protein, promotes pancreatic cancer progression by decreasing tumor-infiltrating lymphocytes., [RefSeq, PubMed]; Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate., [UniProtKB, UniProtKB]; Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases., [UniProtKB, UniProtKB]; Saposins are specific low-molecular mass non-enzymatic glycoproteins that act as activator proteins for lysosomal sphingolipid-degrading enzymes, facilitating the hydrolysis of sphingolipids by extracting lipid substrates from membranes and presenting them to their respective enzymes. They are derived from a common precursor protein, prosaposin, which is proteolytically cleaved to yield four homologous proteins (saposin A, B, C, and D), each with distinct but partially overlapping lipid and enzyme specificities., [UniProtKB, PubMed]; Single-cell RNA-sequencing analysis reveals enhanced non-canonical neurotrophic factor signaling in the subacute phase of traumatic brain injury., [RefSeq, PubMed]; Stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A ARSA (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Forms a solubilizing complex with the substrates of the sphingolipid hydrolases., [UniProtKB, PubMed]; This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]., [RefSeq]; acts as an essential lysosomal cofactor that activates galactocerebrosidase (GALC, EC 3.2.1.46) by facilitating enzyme access to its membrane-embedded galactosylceramide substrate, the principal lipid component of myelin., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 52, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 293, "disease_count": 7, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "P07292;P15793;P78538;P78541;P78546;P78547;P78558;Q53Y86;Q6IBQ6;Q92739;Q92740;Q92741;Q92742", "ec_number_list": [], "go_molecular_function": "GO:1905573 ganglioside GM1 binding;GO:0002020 protease binding;GO:0005543 phospholipid binding;GO:0008047 enzyme activator activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0010506 regulation of autophagy;GO:0006665 sphingolipid metabolic process;GO:0019216 regulation of lipid metabolic process;GO:0060736 prostate gland growth", "synthesized_glycan_count": 0, "hit_score": 66.6, "record_id": "P07602-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75808-1", "uniprot_id": [ { "id": "CAN15_HUMAN", "url": "https://www.uniprot.org/uniprot/O75808", "type": "external" } ], "mass": 117314.0, "length": 1086, "protein_name": "Calpain-15", "gene_name": "CAPN15", "organism": "Human", "refseq_name": "calpain-15", "refseq_ac": [ { "id": "NP_005623", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005623", "type": "external" } ], "gene_names_uniprotkb": "CAPN15; SOLH", "gene_names_refseq": "CAPN15; OGIN; SOLH", "protein_names_uniprotkb": "Calpain-15; 3.4.22.-; Small optic lobes homolog", "protein_names_refseq": "calpain-15; small optic lobes homolog", "tax_id": 9606, "disease": "oculogastrointestinal-neurodevelopmental syndrome (MONDO:MONDO:0036189)", "pathway": " (hsa:6650); (R-HSA-1474228)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "10229672;10386589;10706100;10809722;10986281;11237011;11375993;11872628;12727852;12843408;14973287;15234972;15591058;15958533;16133547;1649600;16631740;16825321;1698775;1707285;17332331;17354228;17608959;18434311;18658137;19010778;19413330;19571574;19657146;19714641;20068230;20068231;20142769;21030783;21297635;21441952;21670566;21784848;21864727;22159414;23035980;23186163;23481700;23845380;24714562;25502872;25880248;26811146;28228285;28411811;28514659;28832583;28904123;29242379;29393594;29493099;29557506;29632046;30315122;31092671;31217245;31844290;32157095;32357974;32387766;32502341;32885237;32938616;32983136;33298915;33410501;33592498;33936100;33968037;33981976;34357683;34509645;34561969;34932366;35051231;35580925;36010968;37596828;41380969;7075587;7547873;8226919;8626565;9065415;9115292;9148753;9461298;9722942;9852107", "class_list": "", "function": "Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay., [RefSeq, PubMed]; Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits., [RefSeq, PubMed]; Calcium-dependent cysteine protease that functions as a non-proteasomal, ubiquitin-directed protease regulating cell adhesion through cleavage of E-cadherin/CDH1. Binds to ubiquitinated proteins via its N-terminal, preferentially recognizing longer polyubiquitin chains including both 'Lys-48- and 'Lys-63'-linked chains. Recognizes the ubiquitinated E-cadherin-catenin complex and cleaves E-cadherin in a calcium- and ubiquitination-dependent manner resulting in lysosomal degradation of the resultant fragment (PubMed:41380969). Plays a critical role in eye, brain and cerebellar development (By similarity). In the developing brain, may regulate transcription factor abundance including PAX2 and PAX5 levels. Additional putative substrates include P-cadherin/CDH3, DCX and TUBB3 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome., [RefSeq, PubMed]; This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B1B1M4;Q2KHS2;Q8WTY9;Q9BUW0", "ec_number_list": [ { "id": "3.4.22.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.53", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.22.54", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.54", "type": "external" } ], "go_molecular_function": "GO:0004198 calcium-dependent cysteine-type endopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "O75808-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21673-1", "uniprot_id": [ { "id": "SAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P21673", "type": "external" } ], "mass": 20024.0, "length": 171, "protein_name": "Diamine acetyltransferase 1", "gene_name": "SAT1", "organism": "Human", "refseq_name": "diamine acetyltransferase 1", "refseq_ac": [ { "id": "NP_002961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002961", "type": "external" } ], "gene_names_uniprotkb": "SAT1; SAT", "gene_names_refseq": "DC21; KFSDX; KFSD; SAT1; SAT; SSAT-1; SSAT", "protein_names_uniprotkb": "Diamine acetyltransferase 1; 2.3.1.57; Polyamine N-acetyltransferase 1; Putrescine acetyltransferase; SSAT-1; SSAT; Spermidine/spermine N(1)-acetyltransferase 1", "protein_names_refseq": "diamine N-acetyltransferase 1; diamine acetyltransferase 1; epididymis secretory sperm binding protein; polyamine N-acetyltransferase 1; putrescine acetyltransferase; spermidine/spermine N1-acetyltransferase alpha", "tax_id": 9606, "disease": "anxiety disorder (Disease Ontology:DOID:2030); mood disorder (Disease Ontology:DOID:3324)", "pathway": " (hsa:6303); (R-HSA-351200)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "11237011;12215835;12477380;1417826;15283699;15784477;16455797;1652956;16544326;17516632;1985966;21109482;2241897;24366607;24714562;25645385;25880248;26154972;26992070;27397612;27862975;28514659;28832583;28834231;28904123;29242379;29437277;29557506;30315122;30410026;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32938616;32983136;33298915;33717175;33968037;34658100;34932366;35051231;35580925;35977808;36284347;36907504;38831092;8360194;8573111;8954982", "class_list": "", "function": "ASMTL-AS1 impedes the malignant progression of lung adenocarcinoma by regulating SAT1 to promote ferroptosis., [RefSeq, PubMed]; Enzyme which catalyzes the acetylation of polyamines (PubMed:15283699, PubMed:16455797, PubMed:17516632). Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine (PubMed:17516632). This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines (PubMed:16455797). Also involved in the regulation of polyamine transport out of cells (PubMed:16455797). Also acts on 1,3-diaminopropane and 1,5-diaminopentane (PubMed:16455797, PubMed:17516632)., [UniProtKB, PubMed, PubMed, PubMed]; Enzyme which catalyzes the acetylation of polyamines. Substrate specificity: norspermidine = spermidine >> spermine > N(1)-acetylspermine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Also acts on 1,3-diaminopropane and 1,5-diaminopentane., [UniProtKB, UniProtKB]; Loss-of-function variants in SAT1 cause X-linked childhood-onset systemic lupus erythematosus., [RefSeq, PubMed]; MNT inhibits lung adenocarcinoma ferroptosis and chemosensitivity by suppressing SAT1. Publication Status: Online-Only, [RefSeq, PubMed]; MYC-driven U2SURP regulates alternative splicing of SAT1 to promote triple-negative breast cancer progression., [RefSeq, PubMed]; The protein encoded by this gene belongs to the acetyltransferase family, and is a rate-limiting enzyme in the catabolic pathway of polyamine metabolism. It catalyzes the acetylation of spermidine and spermine, and is involved in the regulation of the intracellular concentration of polyamines and their transport out of cells. Defects in this gene are associated with keratosis follicularis spinulosa decalvans (KFSD). Alternatively spliced transcripts have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "diagnostic", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ICU9", "ec_number_list": [ { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004145 diamine N-acetyltransferase activity;GO:0019809 spermidine binding;GO:0008080 N-acetyltransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0001525 angiogenesis;GO:0006596 polyamine biosynthetic process;GO:0009447 putrescine catabolic process;GO:0032918 spermidine acetylation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P21673-1", "record_type": "protein", "filter_code": "1000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BT92-1", "uniprot_id": [ { "id": "TCHP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BT92", "type": "external" } ], "mass": 61072.0, "length": 498, "protein_name": "Trichoplein keratin filament-binding protein", "gene_name": "TCHP", "organism": "Human", "refseq_name": "trichoplein keratin filament-binding protein", "refseq_ac": [ { "id": "NP_001137324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137324", "type": "external" } ], "gene_names_uniprotkb": "TCHP", "gene_names_refseq": "TCHP; TpMs", "protein_names_uniprotkb": "Trichoplein keratin filament-binding protein; Mitochondrial protein with oncostatic activity; Mitostatin; Protein TCHP; Tumor suppressor protein", "protein_names_refseq": "mitochondrial protein with oncostatic activity; mitostatin; trichoplein keratin filament-binding protein; tumor suppressor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84260)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11237011;14654843;15731013;18931701;23481700;24715725;25270598;25418920;25576301;25892735;26375851;26992070;27920218;28514659;28832583;28834231;28904123;29080840;29242379;29393594;29493099;29508533;29557506;29632046;30429286;30484775;31844290;32157095;32265295;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34509645;35051231;38538594", "class_list": "", "function": "Soluble matrix-derived cues being transduced downstream of receptor engagement converge upon a newly-discovered nexus of autophagic machinery consisting of Peg3 for endothelial cell autophagy and mitostatin for tumor cell mitophagy. Review article, [RefSeq, PubMed]; Trichoplein is a keratin 8/18-binding protein that may be involved in the organization of the apical network of keratin filaments and desmosomes in simple epithelial cells, [RefSeq, PubMed]; Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a 'capping' or 'branching' protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (PubMed:15731013, PubMed:18931701). Is a negative regulator of ciliogenesis (PubMed:25270598)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8NAG0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0045179 apical cortex;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0006915 apoptotic process;GO:0030308 negative regulation of cell growth;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9BT92-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76096-1", "uniprot_id": [ { "id": "CYTF_HUMAN", "url": "https://www.uniprot.org/uniprot/O76096", "type": "external" } ], "mass": 16454.0, "length": 145, "protein_name": "Cystatin-F", "gene_name": "CST7", "organism": "Human", "refseq_name": "cystatin-F precursor", "refseq_ac": [ { "id": "NP_003641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003641", "type": "external" } ], "gene_names_uniprotkb": "CST7", "gene_names_refseq": "CMAP; CST7", "protein_names_uniprotkb": "Cystatin-F; CMAP; Cystatin-7; Cystatin-like metastasis-associated protein; Leukocystatin", "protein_names_refseq": "cystatin-7; cystatin-F precursor; cystatin-like metastasis-associated protein; leukocystatin", "tax_id": 9606, "disease": "autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:8530)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10945474;12423348;15212960;16601115;18256700;22479522;24190977;26154972;29242379;29351928;29557506;32947653;33868254;34189679;34357683;35254053;37074911;9632704;9733783", "class_list": "glycogene", "function": "A latent protease inhibitor which is itself regulated by proteolysis in the endocytic pathway., [RefSeq, PubMed]; CST7 is secreted, but artificial modification of its C-terminus can induce its endocytic targeting., [RefSeq, PubMed]; Cystatin F acts as a mediator of immune suppression in glioblastoma., [RefSeq, PubMed]; Exploring the factors underlying remyelination arrest by studying the post-transcriptional regulatory mechanisms of cystatin F gene., [RefSeq, PubMed]; Inhibits papain and cathepsin L but with affinities lower than other cystatins. May play a role in immune regulation through inhibition of a unique target in the hematopoietic system., [UniProtKB]; The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. This gene encodes a glycosylated cysteine protease inhibitor with a putative role in immune regulation through inhibition of a unique target in the hematopoietic system. Expression of the protein has been observed in various human cancer cell lines established from malignant tumors. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptomic Profiling Identifies Neutrophil-Specific Upregulation of Cystatin F as a Marker of Acute Inflammation in Humans. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 199, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6FH95;Q7Z4J8;Q9UED4", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0030414 peptidase inhibitor activity;GO:0042803 protein homodimerization activity;GO:0004866 endopeptidase inhibitor activity;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005764 lysosome", "go_biological_process": "GO:1903979 negative regulation of microglial cell activation;GO:0006955 immune response;GO:1905146 lysosomal protein catabolic process;GO:0031643 positive regulation of myelination;GO:0002577 regulation of antigen processing and presentation", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "O76096-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9A7-1", "uniprot_id": [ { "id": "RMI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9A7", "type": "external" } ], "mass": 70144.0, "length": 625, "protein_name": "RecQ-mediated genome instability protein 1", "gene_name": "RMI1", "organism": "Human", "refseq_name": "recQ-mediated genome instability protein 1", "refseq_ac": [ { "id": "NP_079221", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079221", "type": "external" } ], "gene_names_uniprotkb": "RMI1; C9orf76", "gene_names_refseq": "BLAP75; C9orf76; FAAP75; RMI1", "protein_names_uniprotkb": "RecQ-mediated genome instability protein 1; BLAP75; BLM-associated protein of 75 kDa; FAAP75", "protein_names_refseq": "BLM-associated polypeptide, 75 kDa; BLM-associated protein 75 kDa; RMI1, RecQ mediated genome instability 1, homolog; homolog of yeast RecQ-mediated genome instability 1 (RMI1); recQ-mediated genome instability protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80010); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-6804756); (R-HSA-69473); (R-HSA-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709570); (R-HSA-9709603)", "pathway_count": 16, "publication_count": 248, "publication_id_list": "10212258;10373512;10435622;10438626;10500146;10551859;10570149;10570174;10604467;10673500;10673501;10710310;10733923;10744977;10801132;10856253;10859164;10884347;10921897;11006276;11080452;11139606;11237011;11239457;11301010;11376695;11390642;11447225;11459987;11511362;11546806;11551930;11571269;11698410;11740489;11751635;11780126;11832208;12064478;12139939;12152085;12191481;12226092;12228710;12370410;12379650;12393879;12545175;12578958;12686547;12702766;12721304;12750383;12791985;12851404;12912992;12914926;14527420;14576433;14702041;14716019;14734547;15053879;15189136;15190204;15359272;15485900;15665856;15703751;15707391;15775963;15866171;15916957;16148040;16153896;16322561;16327781;16337601;16360315;16530042;16537486;16595695;16793542;16885023;17081983;17108107;17114795;17200668;17200671;17200672;17289582;17349958;17420451;17515903;17575048;17591690;17728255;17928296;17962301;17965729;17996710;17996711;18171670;18317453;18490454;18539610;18541667;18669648;18757400;18805091;18923075;18923082;18923083;18957201;18971343;19074197;19121998;19268590;19357644;19369211;19419957;19584259;19596236;19609323;19941829;19965871;20068231;20154705;20207730;20233725;20729832;20729858;20729859;20871615;20871616;20959462;20965415;21052091;21240188;21263215;21317932;21325134;21335604;21520333;21565612;21659603;21680713;21777809;21804533;22021381;22024395;22194698;22231403;22593209;22635276;22645308;22661229;22661230;22792074;22977173;23000554;23149936;23186163;23345434;23468639;23485397;23509288;23676219;23686288;23731732;23754376;23810717;24013206;24076221;24141787;24145406;24366607;24371268;24485656;24509834;24831703;24874608;25113031;25122754;25558984;25576301;25659039;25755297;26145171;26154972;26556339;26992070;27600516;27846572;27899578;28089683;28158555;28228285;28240985;28319063;28514659;28832583;28834231;29165669;29242379;29437277;29608566;30289697;30311374;30315122;30429286;31154438;31217245;31530632;31586400;31636395;31757951;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32732220;32938616;32983136;33195396;33912179;33936100;33968037;33978741;33981976;34357683;34440403;34561969;35051231;35102151;35115525;35218564;35561310;36172813;36241641;36529288;8702565;9705271;9837724;9925639", "class_list": "", "function": "BLAP75/RMI1 acts by recruiting TOPO IIIalpha to double Holliday junctions, [RefSeq, PubMed]; BLM is stably associated with RMI1 protein., [RefSeq, PubMed]; BLM, Topo IIIalpha, and BLAP75 constitute a dissolvasome complex that processes HR intermediates to limit DNA crossover formation, [RefSeq, PubMed]; Duplex DNA and BLM regulate gate opening by the human TopoIIIalpha-RMI1-RMI2 complex. Publication Status: Online-Only, [RefSeq, PubMed]; Essential component of the RMI complex, a complex that plays an important role in the processing of homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation during mitosis. Within the BLM complex, required for BLM and TOP3A stability., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome., [RefSeq, PubMed]; The MRN complex and topoisomerase IIIa-RMI1/2 synchronize DNA resection motor proteins., [RefSeq, PubMed]; The toposiomerase IIIalpha-RMI1-RMI2 complex orients human Bloom's syndrome helicase for efficient disruption of D-loops. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q05BX1;Q05CW3;Q5SQG8;Q5SQG9;Q6P1Q4;Q6PI89;Q7Z6L6", "ec_number_list": [], "go_molecular_function": "GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0031422 RecQ family helicase-topoisomerase III complex", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0006260 DNA replication;GO:0000724 double-strand break repair via homologous recombination;GO:0071139 resolution of DNA recombination intermediates", "synthesized_glycan_count": 0, "hit_score": 24.9, "record_id": "Q9H9A7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04234-1", "uniprot_id": [ { "id": "CD3D_HUMAN", "url": "https://www.uniprot.org/uniprot/P04234", "type": "external" } ], "mass": 18930.0, "length": 171, "protein_name": "T-cell surface glycoprotein CD3 delta chain", "gene_name": "CD3D", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD3 delta chain isoform A precursor", "refseq_ac": [ { "id": "NP_000723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000723", "type": "external" } ], "gene_names_uniprotkb": "CD3D; T3D", "gene_names_refseq": "CD3-DELTA; CD3DELTA; CD3D; IMD19; T3D", "protein_names_uniprotkb": "T-cell surface glycoprotein CD3 delta chain; T-cell receptor T3 delta chain", "protein_names_refseq": "CD3 antigen, delta subunit; CD3 delta; CD3d antigen, delta polypeptide (TiT3 complex); CD3d molecule, delta (CD3-TCR complex); OKT3, delta chain; T-cell receptor T3 delta chain; T-cell surface glycoprotein CD3 delta chain isoform A precursor", "tax_id": 9606, "disease": "immunodeficiency 19 (Disease Ontology:DOID:0111972); severe combined immunodeficiency (Disease Ontology:DOID:627)", "pathway": " (hsa:915); (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-389948); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 9, "publication_count": 381, "publication_id_list": "10097102;10436022;10499918;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10671560;10698680;10716940;10746781;10747096;10766823;10769163;10790433;10811803;10983987;11048639;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11265639;11358993;11390650;11454741;11470803;11489943;11513152;11516654;11517213;11532990;11556966;11577110;11588219;11607830;11752630;11807247;11827988;11857637;11858820;11861603;11877457;11877461;11884229;11889126;11919637;11927540;11955593;11955595;11955599;11988742;12057195;12086608;12213321;12213833;12215456;12221107;12234931;12429842;12447393;12451172;12464600;12473184;12483297;12485116;12507424;12522270;12588680;12660731;12717448;12847086;12893276;12938237;12944396;12947224;12952949;12958364;1317852;1372642;1396954;14510693;14514672;14555962;14581451;14602880;14617351;14622578;14622579;14662753;14719373;14726597;14970179;15028279;15034010;15084594;15122200;15125833;15134832;15136729;15144186;15145317;15155468;15187158;15252009;15260957;15304001;15318165;15339664;1535555;15358536;15371334;15473838;15489910;15489916;15502812;15502813;15534202;15541655;15541657;15546002;15580655;15607800;15649145;15671180;15703209;15728179;15778510;15781451;15800062;15802264;15851719;15864273;15895077;15916959;16014749;16056267;16091383;16103228;16129954;16159959;16215232;16326391;16339513;16356853;16356855;16364187;16380601;16410077;16459302;16460808;16461343;16516836;16551255;16612002;16707488;16723738;16737824;16754721;16798879;16880396;16893496;16903783;16904340;16928187;16978534;17018281;17035995;17045824;17047224;17057721;17072321;17135271;17158794;17237375;17267500;17337780;17360967;17363905;17456551;17468049;17494869;17496917;17512409;17522231;17540576;17548359;17609109;17652306;17681954;17713526;17728323;17762867;17765681;17978091;18031695;18032517;18037897;18055229;18093523;18166656;18173375;18199683;18209062;18234675;1828760;18388313;1847920;18593354;18759926;18775314;18790740;18819912;18981233;19092055;19140243;19149696;19287005;19296720;19359216;19458185;19536138;19575674;19592130;19603039;1968060;19690332;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20211604;20231386;20346773;20351096;20428113;20448150;20730098;20826345;20946875;21102408;2115402;21154117;21187331;21241660;21278753;21316588;21445324;21482805;21499258;21543337;21613550;21779028;21800138;21841309;21841790;21877119;21883749;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22396535;22426112;22484487;22505844;2257624;22815487;22863004;22942912;23297414;23302904;23536704;23580664;23695528;23823722;23861397;23891661;23929856;24130457;24186068;24305946;24384571;24581490;24680432;2470098;24746795;24789820;24966051;25107275;25303366;2530588;25341920;2540970;25703557;25716998;26042225;26154972;26284469;26300885;26403691;26829388;28165004;28265006;2890644;29242379;2939461;29493099;29557506;29786170;29863979;30522017;31154438;31313098;31611695;31844290;32983136;33350431;3417785;3488209;35580925;37074911;37651092;6095101;6146630;7479848;7531291;7542404;7565724;7569928;7822302;7877694;8178173;8520027;8524399;8550590;8552632;8553074;8601309;8798379;8824201;8837779;8995416;9092476;9100026;9115214;9169477;9252186;9285412;9303539;9314561;9362451;9427626;9428629;9635431;9687533;9700512;9723620;9730896;9736607;9812899;9846482;9850860;9990853", "class_list": "", "function": "Comprehensive analysis reveals a prognostic and therapeutic biomarker CD3D in the breast carcinoma microenvironment., [RefSeq, PubMed]; Hypomethylation of CD3D promoter induces immune cell infiltration and supports malignant phenotypes in uveal melanoma., [RefSeq, PubMed]; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3D plays an essential role in thymocyte differentiation. Indeed, participates in correct intracellular TCR-CD3 complex assembly and surface expression. In absence of a functional TCR-CD3 complex, thymocytes are unable to differentiate properly. Interacts with CD4 and CD8 and thus serves to establish a functional link between the TCR and coreceptors CD4 and CD8, which is needed for activation and positive selection of CD4 or CD8 T-cells (PubMed:12215456)., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is part of the T-cell receptor/CD3 complex (TCR/CD3 complex) and is involved in T-cell development and signal transduction. The encoded membrane protein represents the delta subunit of the CD3 complex, and along with four other CD3 subunits, binds either TCR alpha/beta or TCR gamma/delta to form the TCR/CD3 complex on the surface of T-cells. Defects in this gene are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK). Two transcript variants encoding different isoforms have been found for this gene. Other variants may also exist, but the full-length natures of their transcripts has yet to be defined. [provided by RefSeq, Feb 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 10, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MVP6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0042101 T cell receptor complex;GO:0009897 external side of plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane", "go_biological_process": "GO:0046631 alpha-beta T cell activation;GO:0007166 cell surface receptor signaling pathway;GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response;GO:0045059 positive thymic T cell selection", "synthesized_glycan_count": 0, "hit_score": 39.4, "record_id": "P04234-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQF6-1", "uniprot_id": [ { "id": "SENP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQF6", "type": "external" } ], "mass": 119658.0, "length": 1050, "protein_name": "Sentrin-specific protease 7", "gene_name": "SENP7", "organism": "Human", "refseq_name": "sentrin-specific protease 7 isoform 2", "refseq_ac": [ { "id": "NP_001070671", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070671", "type": "external" } ], "gene_names_uniprotkb": "SENP7; KIAA1707; SSP2; SUSP2", "gene_names_refseq": "SENP7", "protein_names_uniprotkb": "Sentrin-specific protease 7; 3.4.22.-; SUMO-1-specific protease 2; Sentrin/SUMO-specific protease SENP7", "protein_names_refseq": "SUMO-1-specific protease 2; SUMO1/sentrin specific peptidase 7; sentrin-specific protease 7 isoform 2; sentrin-specific protease 7; sentrin/SUMO-specific protease SENP7", "tax_id": 9606, "disease": "acute promyelocytic leukemia (Disease Ontology:DOID:0060318)", "pathway": " (hsa:57337)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11230166;11237011;17081983;18452278;18799455;19413330;19690332;21878624;23045645;23186163;23481700;24275569;24714562;25418920;25576301;26154972;26375851;27846572;27920218;28228285;28429743;28832583;29242379;29557506;29632711;29777712;29786170;30379171;30524438;31825833;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33592498;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35143421;35318648;35580925;36010968;37074911", "class_list": "", "function": "DeSUMOylase SENP7-Mediated Epithelial Signaling Triggers Intestinal Inflammation via Expansion of Gamma-Delta T Cells., [RefSeq, PubMed]; Differential splicing of the SENP7 regulates either tumor suppression or progression, [RefSeq, PubMed]; Loop 1 insertion in SENP6 and SENP7 as a platform to discriminate between SUMO1 and SUMO2/3 isoforms in this subclass of the SUMO protease family., [RefSeq, PubMed]; Non-tumorigenic MCF10-2A cells with reduced SENP7S exhibit greater cell proliferation and anchorage-dependent growth. SENP7S depletion directly potentiates tumorigenic properties of MCF10-2A cells with induction of anchorage-independent growth and self-renewal in 3D-spheroid conditions. Collectively, the results identify SENP7S as a novel mediator of beta-catenin signaling and normal mammary epithelial cell physiology. Publication Status: Online-Only, [RefSeq, PubMed]; Protease that acts as a positive regulator of the cGAS-STING pathway by catalyzing desumoylation of CGAS. Desumoylation of CGAS promotes DNA-binding activity of CGAS, subsequent oligomerization and activation (By similarity). Deconjugates SUMO2 and SUMO3 from targeted proteins, but not SUMO1 (PubMed:18799455). Catalyzes the deconjugation of poly-SUMO2 and poly-SUMO3 chains (PubMed:18799455). Has very low efficiency in processing full-length SUMO proteins to their mature forms (PubMed:18799455)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; SENP6 and SENP7 exhibit lower rates for processing pre-SUMO1, pre-SUMO2, or pre-SUMO3 in comparison with SENP2, [RefSeq, PubMed]; SENP7 senses oxidative stress to sustain metabolic fitness and antitumor functions of CD8+ T cells., [RefSeq, PubMed]; SPOP inhibits hepatocellular carcinoma (HCC) cell metastasis via ubiquitin-dependent SENP7 proteolysis and may thus serve as a new opinion for the prevention of HCC metastasis., [RefSeq, PubMed]; The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1L3A5;A8MW39;B7WNW8;Q7Z3F4;Q96PS5;Q9C0F6;Q9HBT5", "ec_number_list": [], "go_molecular_function": "GO:0070139 SUMO-specific endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0099523 presynaptic cytosol;GO:0099524 postsynaptic cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016926 protein desumoylation;GO:0140374 antiviral innate immune response;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9BQF6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49910-1", "uniprot_id": [ { "id": "ZN165_HUMAN", "url": "https://www.uniprot.org/uniprot/P49910", "type": "external" } ], "mass": 55771.0, "length": 485, "protein_name": "Zinc finger protein 165", "gene_name": "ZNF165", "organism": "Human", "refseq_name": "zinc finger protein 165 isoform a", "refseq_ac": [ { "id": "NP_003438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003438", "type": "external" } ], "gene_names_uniprotkb": "ZNF165; ZPF165; ZSCAN7", "gene_names_refseq": "CT53; LD65; ZNF165; ZSCAN7", "protein_names_uniprotkb": "Zinc finger protein 165; CT53; Cancer/testis antigen 53; LD65; Zinc finger and SCAN domain-containing protein 7", "protein_names_refseq": "cancer/testis antigen 53; zinc finger and SCAN domain-containing protein 7; zinc finger protein 165 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:7718)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "24366607;29242379;31217245;31848261;32515734;33298915;33912179;33968037;35051231;35692498;7490084;9244436", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; The testis protein ZNF165 is a SMAD3 cofactor that coordinates oncogenic TGFbeta signaling in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Kruppel family of zinc finger proteins. Members of this DNA-binding protein family act as transcriptional regulators. This gene is located within a cluster of zinc finger family members. The encoded protein may play a role in spermatogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; ZNF165 Is Involved in the Regulation of Immune Microenvironment and Promoting the Proliferation and Migration of Hepatocellular Carcinoma by AhR/CYP1A1. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "P49910-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NJ6-1", "uniprot_id": [ { "id": "ZFP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NJ6", "type": "external" } ], "mass": 57662.0, "length": 502, "protein_name": "Zinc finger protein 3 homolog", "gene_name": "ZFP3", "organism": "Human", "refseq_name": "zinc finger protein 3 homolog", "refseq_ac": [ { "id": "NP_694563", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694563", "type": "external" } ], "gene_names_uniprotkb": "ZFP3; ZNF752", "gene_names_refseq": "ZFP3; ZNF752", "protein_names_uniprotkb": "Zinc finger protein 3 homolog; Zfp-3; Zinc finger protein 752", "protein_names_refseq": "zfp-3; zinc finger protein 3 homolog; zinc finger protein 752; zinc finger protein homologous to Zfp-3 in mouse; zinc finger protein-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:124961)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "25576301;30379171;30429286;31154438;31844290;31848261", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5PLL4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96NJ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36508-1", "uniprot_id": [ { "id": "ZNF76_HUMAN", "url": "https://www.uniprot.org/uniprot/P36508", "type": "external" } ], "mass": 61831.0, "length": 570, "protein_name": "Zinc finger protein 76", "gene_name": "ZNF76", "organism": "Human", "refseq_name": "zinc finger protein 76 isoform 2", "refseq_ac": [ { "id": "NP_001278961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278961", "type": "external" } ], "gene_names_uniprotkb": "ZNF76; D6S229E; ZNF523", "gene_names_refseq": "D6S229E; ZNF523; ZNF76; Zfp523", "protein_names_uniprotkb": "Zinc finger protein 76; Zinc finger protein 523", "protein_names_refseq": "zinc finger protein 523; zinc finger protein 76 (expressed in testis); zinc finger protein 76 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7629)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10893243;11237011;1427894;15280358;16337145;23481700;24715725;25576301;28228285;28832583;28904123;29242379;31844290;32157095;32387766;32938616;33298915;33664275;33717175;33968037;33981976;34509645;34793589;35051231;38982741;9705341", "class_list": "", "function": "Biochemical study of ZNF76 rs10947540 and SCUBE3 rs1888822 single nucleotide polymorphisms in the Egyptian patients with systemic lupus Erythematosus., [RefSeq, PubMed]; The ZNF76 rs10947540 polymorphism associated with systemic lupus erythematosus risk in Chinese populations. Publication Status: Online-Only, [RefSeq, PubMed]; Transcription factor that regulates expression of genes transcribed by both RNA polymerases II and III (PubMed:10893243, PubMed:9705341). Specifically recognizes and binds the Staf-binding site (SBS), a consensus DNA-binding motif present in many promoters (PubMed:9705341). Able to activate expression of small nuclear RNA (snRNA) transcribed by RNA polymerases II and III (PubMed:9705341). Also regulates expression of mRNAs and acts as a DNA-binding transcription repressor that inhibits the activity of the TATA-binding protein (TBP) (PubMed:15280358, PubMed:16337145)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; ZNF76 functions as a transcriptional repressor through its interaction with TBP and sumoylation modulates its transcriptional repression activity, [RefSeq, PubMed]; ZNF76 predicts prognosis and response to platinum chemotherapy in human ovarian cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BQB2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006359 regulation of transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P36508-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57730-1", "uniprot_id": [ { "id": "CAR18_HUMAN", "url": "https://www.uniprot.org/uniprot/P57730", "type": "external" } ], "mass": 10138.0, "length": 90, "protein_name": "Caspase recruitment domain-containing protein 18", "gene_name": "CARD18", "organism": "Human", "refseq_name": "caspase recruitment domain-containing protein 18", "refseq_ac": [ { "id": "NP_067546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067546", "type": "external" } ], "gene_names_uniprotkb": "CARD18; ICEBERG; PRO19611", "gene_names_refseq": "CARD18; ICEBERG; UNQ5804; pseudo-ICE", "protein_names_uniprotkb": "Caspase recruitment domain-containing protein 18; Caspase-1 inhibitor Iceberg", "protein_names_refseq": "ICEBERG caspase-1 inhibitor; caspase recruitment domain-containing protein 18; caspase-1 inhibitor Iceberg", "tax_id": 9606, "disease": "", "pathway": " (hsa:59082)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11051551;11237011;11821383;12975309;21048031;23948415;27023378;28506683;34087483", "class_list": "", "function": "CARD18 expression differs in healthy and psoriatic skin; moreover, CARD18 demonstrated altered response under inflammatory conditions in healthy and psoriatic skin, [RefSeq, PubMed]; CARD18 may be both a promising marker for prognosis and a target protein for treatment of gastric cancer., [RefSeq, PubMed]; In lesional epidermis of patients with lichen planus, CARD18 expression was either greatly diminished or entirely absent whereas in non-lesional areas expression was comparable to normal skin., [RefSeq, PubMed]; Inhibits generation of IL-1-beta by interacting with caspase-1 and preventing its association with RIP2. Down-regulates the release of IL1B., [UniProtKB, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RRF8", "ec_number_list": [], "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity;GO:0050700 CARD domain binding;GO:0089720 caspase binding;GO:0004869 cysteine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0032991 protein-containing complex", "go_biological_process": "GO:0006508 proteolysis;GO:0006954 inflammatory response;GO:0032691 negative regulation of interleukin-1 beta production;GO:0042981 regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P57730-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P06729-1", "uniprot_id": [ { "id": "CD2_HUMAN", "url": "https://www.uniprot.org/uniprot/P06729", "type": "external" } ], "mass": 39448.0, "length": 351, "protein_name": "T-cell surface antigen CD2", "gene_name": "CD2", "organism": "Human", "refseq_name": "T-cell surface antigen CD2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001315538", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001315538", "type": "external" } ], "gene_names_uniprotkb": "CD2; SRBC", "gene_names_refseq": "CD2; LFA-2; SRBC; T11", "protein_names_uniprotkb": "T-cell surface antigen CD2; Erythrocyte receptor; LFA-2; LFA-3 receptor; Rosette receptor; T-cell surface antigen T11/Leu-5", "protein_names_refseq": "CD2 antigen (p50), sheep red blood cell receptor; LFA-3 receptor; T-cell surface antigen CD2 isoform 1 precursor; T-cell surface antigen CD2; T-cell surface antigen T11/Leu-5; erythrocyte receptor; lymphocyte-function antigen-2; rosette receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:914); (R-HSA-202733)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10207177;10380930;10606205;10764623;11207550;11237011;11256994;11564780;11779189;11812992;12070135;12208882;12469115;12782713;1377404;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;16959974;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;21193412;21659548;23006327;23945545;24043627;2437578;2444890;24764293;2538457;28832583;2883656;28871256;2894031;2901953;29242379;29351928;29493099;32350084;32983136;33392160;33912179;34019867;34552089;3490670;35051231;35580925;35881486;37074911;37904707;40914422;468991;7509040;7521878;7544493;7915183;7994575;8163559;8166770;8314844;9052782;9169774;9242610;9295288;9382878;9693095;9763524;9857189", "class_list": "", "function": "CD2 and CD7 are sensitive flow cytometry screening markers for T-lineage acute leukemia(s): a study of 465 acute leukemia cases., [RefSeq, PubMed]; CD2 interacts with lymphocyte function-associated antigen CD58 (LFA-3) and CD48/BCM1 to mediate adhesion between T-cells and other cell types. CD2 is implicated in the triggering of T-cells, the cytoplasmic domain is implicated in the signaling function., [UniProtKB]; Multidimensional single-cell analysis identifies a role for CD2-CD58 interactions in clinical antitumor T cell responses., [RefSeq, PubMed]; Polymorphic estrogen receptor binding site causes Cd2-dependent sex bias in the susceptibility to autoimmune diseases. Publication Status: Online-Only, [RefSeq, PubMed]; The CD2-CD58 axis: A novel marker predicting poor prognosis in patients with low-grade gliomas and potential therapeutic approaches., [RefSeq, PubMed]; The protein encoded by this gene is a surface antigen found on all peripheral blood T-cells. The encoded protein interacts with LFA3 (CD58) on antigen presenting cells to optimize immune recognition. A locus control region (LCR) has been found in the 3' flanking sequence of this gene. [provided by RefSeq, Jun 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 7, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q96TE5", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0030971 receptor tyrosine kinase binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0009986 cell surface;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007166 cell surface receptor signaling pathway;GO:0006915 apoptotic process;GO:0042110 T cell activation;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "P06729-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2I6-1", "uniprot_id": [ { "id": "NINL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2I6", "type": "external" } ], "mass": 156344.0, "length": 1382, "protein_name": "Ninein-like protein", "gene_name": "NINL", "organism": "Human", "refseq_name": "ninein-like protein isoform 2", "refseq_ac": [ { "id": "NP_001305155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305155", "type": "external" } ], "gene_names_uniprotkb": "NINL; KIAA0980; NLP", "gene_names_refseq": "NINL; NLP", "protein_names_uniprotkb": "Ninein-like protein", "protein_names_refseq": "ninein-like protein isoform 2; ninein-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22981); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 90, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;15498487;15705883;16254247;16357211;16462731;16890155;17403670;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18538832;18566290;18615013;18694559;18801063;18826961;19004860;19081074;19940019;20230748;20308558;20399632;20558667;20864540;20890132;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22353935;22365832;22433857;22641346;22653444;23141531;23141541;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24715725;24982133;25047611;25313408;25532896;26374642;26485514;26485645;26805762;29557506;32387766;32938616;32983136;33402344;33968037;34509645;35051231;35154160;35494241;7769006;7790358;8838651", "class_list": "", "function": "Breast cancer patients with high expression of Nlp were likely resistant to the treatment of paclitaxel., [RefSeq, PubMed]; Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. Involved in vesicle transport in photoreceptor cells (By similarity). May play a role in ovarian carcinogenesis., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; These data support a model where CC2D2A associates with NINL to provide a docking point for cilia-directed cargo vesicles, suggesting a mechanism by which transition zone proteins can control the protein content of the ciliary compartment. Publication Status: Online-Only, [RefSeq, PubMed]; Upon UVC radiation, Nlp interacts with XPA and ERCC1, and enhances their association, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NJN0;B3V9H6;B7Z1V8;Q5JYP0;Q8NE38;Q9NQE3", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0034454 microtubule anchoring at centrosome", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q9Y2I6-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60936-2", "uniprot_id": [ { "id": "NOL3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60936", "type": "external" } ], "mass": 22629.0, "length": 208, "protein_name": "Nucleolar protein 3", "gene_name": "NOL3", "organism": "Human", "refseq_name": "nucleolar protein 3 isoform Nop30", "refseq_ac": [ { "id": "NP_001171986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171986", "type": "external" } ], "gene_names_uniprotkb": "NOL3; ARC; NOP", "gene_names_refseq": "ARC; FCM; MYOCL1; MYP; NOL3; NOP30; NOP", "protein_names_uniprotkb": "Nucleolar protein 3; Apoptosis repressor with CARD; Muscle-enriched cytoplasmic protein; Myp; Nop30; Nucleolar protein of 30 kDa", "protein_names_refseq": "muscle-enriched cytoplasmic protein; nucleolar protein 3 (apoptosis repressor with CARD domain); nucleolar protein 3 isoform Nop30; nucleolar protein of 30 kDa", "tax_id": 9606, "disease": "myoclonus, familial, 1 (MONDO:MONDO:0100093)", "pathway": " (hsa:8996)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10196175;12191471;12734105;15004034;15383280;15509781;16505176;17142452;20068231;22926851;25138476;25255805;25576301;31844290;32161166;32488085;32771410;32816906;33579312;33592498;35580925;9560245", "class_list": "", "function": "ARC Is a Critical Protector against Inflammatory Bowel Disease (IBD) and IBD-Associated Colorectal Tumorigenesis., [RefSeq, PubMed]; ARC is recruited to the Fas DISC. By interacting with Fas and FADD through CARD-DD and CARD-DED interactions, ARC prevents DISC assembly and procaspase-8 activation. GeneRIF: The CARD of ARC binds the Bax C-terminus, preventing Bax activation and activation of the intrinsic mitochondrial pathway GeneRIF: ARC holds multiple death pathways in check by non-homotypic death-fold interactions. Loss of ARC disinhibits these, leading to accelerated DISC assembly and Bax activation and may be an apoptotic trigger in heart failure and ischemia-reperfusion., [RefSeq, PubMed]; Apoptosis repressor with caspase recruitment domain promotes cell proliferation and phenotypic modulation through 14-3-3epsilon/YAP signaling in vascular smooth muscle cells., [RefSeq, PubMed]; Expression of apoptosis repressor with caspase recruitment domain (ARC) in familial adenomatous polyposis (FAP) adenomas and its correlation with DNA mismatch repair proteins, p53, Bcl-2, COX-2 and beta-catenin. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:15004034). Inhibits calcium-mediated cell death by functioning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (PubMed:15509781). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (By similarity). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (By similarity). Inhibits too myoblast differentiation through caspase inhibition (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; May be involved in RNA splicing., [UniProtKB, PubMed]; These results suggest that the antiapoptotic effect of apoptotic repressor with caspase recruitment domain is, in part, due to inhibition of voltage-gated potassium channels in cardiomyocytes., [RefSeq, PubMed]; This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFL0;O60937", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0005509 calcium ion binding;GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process;GO:0035877 death effector domain binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0002931 response to ischemia;GO:0043066 negative regulation of apoptotic process;GO:0051259 protein complex oligomerization;GO:0001974 blood vessel remodeling;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O60936-2", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M63-1", "uniprot_id": [ { "id": "ODAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M63", "type": "external" } ], "mass": 75046.0, "length": 670, "protein_name": "Outer dynein arm-docking complex subunit 1", "gene_name": "ODAD1", "organism": "Human", "refseq_name": "outer dynein arm-docking complex subunit 1 isoform 2", "refseq_ac": [ { "id": "NP_653178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_653178", "type": "external" } ], "gene_names_uniprotkb": "ODAD1; CCDC114", "gene_names_refseq": "CCDC114; CILD20; ODAD1", "protein_names_uniprotkb": "Outer dynein arm-docking complex subunit 1; Coiled-coil domain-containing protein 114", "protein_names_refseq": "coiled-coil domain containing 114; coiled-coil domain-containing protein 114; outer dynein arm-docking complex subunit 1 isoform 2", "tax_id": 9606, "disease": "primary ciliary dyskinesia 20 (Disease Ontology:DOID:0110625)", "pathway": " (hsa:93233)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;23261302;23261303;25192045;27486780;30148830;30471718;31844290;32938616;35051231;35163670;35343062;36010968;36284347", "class_list": "", "function": "Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Involved in mediating assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation., [RefSeq, PubMed]; Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia, [RefSeq, PubMed]; These results revealed that mutations in CCDC114 are a cause of ciliary dysmotility and PCD and further demonstrate the utility of exome sequencing to identify genetic causes in heterogeneous recessive disorders., [RefSeq, PubMed]; This gene encodes a coiled-coil domain-containing protein that is a component of the outer dynein arm docking complex in cilia cells. Mutations in this gene may cause primary ciliary dyskinesia 20. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZRL4;Q96M06;Q9UFG8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0005930 axoneme;GO:0097228 sperm principal piece;GO:0097225 sperm midpiece;GO:0036157 outer dynein arm", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement;GO:0036158 outer dynein arm assembly", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96M63-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40199-1", "uniprot_id": [ { "id": "CEAM6_HUMAN", "url": "https://www.uniprot.org/uniprot/P40199", "type": "external" } ], "mass": 37237.0, "length": 344, "protein_name": "Cell adhesion molecule CEACAM6", "gene_name": "CEACAM6", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM6 preproprotein", "refseq_ac": [ { "id": "NP_002474", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002474", "type": "external" } ], "gene_names_uniprotkb": "CEACAM6; NCA", "gene_names_refseq": "CD66c; CEACAM6; CEAL; NCA-50/90; NCA", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM6; CEA cell adhesion molecule 6; Carcinoembryonic antigen-related cell adhesion molecule 6; Non-specific crossreacting antigen; Normal cross-reacting antigen", "protein_names_refseq": "Cluster of Differentiation 66c; carcinoembryonic antigen related cell adhesion molecule 6; carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen); cell adhesion molecule CEACAM6 preproprotein; cell adhesion molecule CEACAM6; normal cross-reacting antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:4680); (R-HSA-1566977); (R-HSA-202733); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "37639587;10.1007/s00018-021-03863-1;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10436421;10606205;10764623;10910050;11207550;11237011;11256994;11564780;11590190;11779189;11812992;12070135;12208882;12469115;12782713;1378450;14512395;14529530;14615387;14724575;15000751;15340161;15528364;15681301;15721307;1591491;16204051;16258728;16297198;16585556;16691243;16737840;16740002;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;18318008;19159218;19279206;2022629;2045422;20690820;21193412;21659548;23090970;2317824;23584533;23650620;23945545;24043627;24190977;24764293;2538457;25813380;26483485;2803308;2830274;28892050;29789417;3220478;3337731;34089345;36765147;37074911;37816733;38240103;38502695;3872795;38944419;41018975;468991;6643500;7509040;7521878;8163559;8166770;8314844;8692836;8776764;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Aldolase B-driven lactagenesis and CEACAM6 activation promote cell renewal and chemoresistance in colorectal cancer through the Warburg effect. Publication Status: Online-Only, [RefSeq, PubMed]; CEACAM6 Promotes Lung Metastasis via Enhancing Proliferation, Migration and Suppressing Apoptosis of Prostate Cancer Cells., [RefSeq, PubMed]; Cell surface glycoprotein that plays a role in cell adhesion and tumor progression (PubMed:10910050, PubMed:11590190, PubMed:1378450, PubMed:16204051, PubMed:2022629, PubMed:2803308, PubMed:8776764). Intercellular adhesion occurs in a calcium- and fibronectin-independent manner (PubMed:16204051, PubMed:2022629). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM5 and CEACAM8 (PubMed:11590190, PubMed:16204051, PubMed:2022629, PubMed:2803308, PubMed:8776764). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764). Plays a role in neutrophil adhesion to cytokine-activated endothelial cells (PubMed:1378450). Plays a role in cell migration and cell adhesion to endothelial cells (PubMed:16204051)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Phenotypic screen of sixty-eight colorectal cancer cell lines identifies CEACAM6 and CEACAM5 as markers of acid resistance., [RefSeq, PubMed]; The emerging roles of CEACAM6 in human cancer (Review). Review article, [RefSeq, PubMed]; The first study to demonstrate the prognostic relevance of CEACAM6 overexpression in human colorectal cancer, [RefSeq, PubMed]; This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 12, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 12, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "Q13774;Q14920;Q53XP7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0006915 apoptotic process;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "P40199-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100011000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BU64-1", "uniprot_id": [ { "id": "CENPO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BU64", "type": "external" } ], "mass": 33786.0, "length": 300, "protein_name": "Centromere protein O", "gene_name": "CENPO", "organism": "Human", "refseq_name": "centromere protein O isoform 2", "refseq_ac": [ { "id": "NP_001186732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186732", "type": "external" } ], "gene_names_uniprotkb": "CENPO; ICEN36; MCM21R", "gene_names_refseq": "CENP-O; CENPO; ICEN-36; MCM21R", "protein_names_uniprotkb": "Centromere protein O; CENP-O; Interphase centromere complex protein 36", "protein_names_refseq": "centromere protein O isoform 2; centromeric protein O; interphase centromere complex protein 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:79172); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 127, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16716197;16890222;16932742;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;18001770;18007590;18097444;18716626;18923426;19007248;19350017;19398759;19410544;19410545;19696148;19815554;19965387;20030946;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22544926;22608513;22790947;22885700;23186163;23222643;23801653;24914801;25418920;25576301;25740311;25789526;26992070;27920218;28218747;28832583;28834231;29242379;29331515;29437277;30315122;30524438;30779550;31222486;31409757;31844290;32387766;32488085;32938616;33141586;33298915;33592498;33596090;33968037;33981976;34087483;34171305;34211107;34260926;34509645;34561969;34932366;35051231;36010968;36215666;36241641;37558987;38890751;9649308;9649503;9892021", "class_list": "", "function": "Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Modulates the kinetochore-bound levels of NDC80 complex., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Differential requirements for the CENP-O complex reveal parallel PLK1 kinetochore recruitment pathways., [RefSeq, PubMed]; High expression levels of centromere protein O participates in cell proliferation of human ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic and immune infiltrative biomarkers of CENPO in pan-cancer and its relationship with lung adenocarcinoma cell proliferation and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDC0;D6W536;Q53T55;Q96JV3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0031511 Mis6-Sim4 complex", "go_biological_process": "GO:0051382 kinetochore assembly;GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q9BU64-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZW8-1", "uniprot_id": [ { "id": "CD244_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZW8", "type": "external" } ], "mass": 41616.0, "length": 370, "protein_name": "Natural killer cell receptor 2B4", "gene_name": "CD244", "organism": "Human", "refseq_name": "natural killer cell receptor 2B4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001160135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001160135", "type": "external" } ], "gene_names_uniprotkb": "CD244; 2B4", "gene_names_refseq": "2B4; CD244; NAIL; NKR2B4; Nmrk; SLAMF4", "protein_names_uniprotkb": "Natural killer cell receptor 2B4; NAIL; NK cell activation-inducing ligand; NK cell type I receptor protein 2B4; NKR2B4; SLAM family member 4; SLAMF4; Signaling lymphocytic activation molecule 4; h2B4", "protein_names_refseq": "CD244 molecule, natural killer cell receptor 2B4; NK cell activation inducing ligand NAIL; NK cell activation-inducing ligand; NK cell type I receptor protein 2B4; SLAM family member 4; h2B4; natural killer cell receptor 2B4 isoform 2 precursor; signaling lymphocytic activation molecule 4", "tax_id": 9606, "disease": "rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:51744); (R-HSA-202733)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10358138;10359122;10458320;10556801;10606205;10741393;10764623;10934222;11003394;11034353;11207550;11256994;11564780;11714776;11779189;11812992;11815622;11917118;12070135;12208882;12458214;12469115;12782713;14529530;14615387;15000751;15340161;15528364;15681301;15713798;15721307;1591491;16002700;16177062;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;19499526;20164429;21193412;21606496;21659548;23945545;24043627;24642916;24764293;2538457;26221972;26992070;27543614;28467828;29242379;32350084;32983136;33608984;34357683;34691037;36215666;37516949;37634081;468991;7509040;7521878;8163559;8166770;8314844;8376943;9052782;9169774;9242610;9295288;9382878;9693095;9763524;9841922", "class_list": "", "function": "2B4 inhibits the apoptosis of natural killer cells through phosphorylated extracellular signal-related kinase/B-cell lymphoma 2 signal pathway., [RefSeq, PubMed]; Evaluation of mRNA Expression of CD244 and Its Adapter Molecules in CD8+ T Cells in Acute Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Heterophilic receptor of the signaling lymphocytic activation molecule (SLAM) family; its ligand is CD48. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor (PubMed:10359122, PubMed:11714776, PubMed:8376943). Activating function implicates association with SH2D1A and FYN (PubMed:15713798). Downstreaming signaling involves predominantly VAV1, and, to a lesser degree, INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1A is proposed to be dependent on INPP5D and to a lesser extent PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10934222, PubMed:15713798). Stimulates NK cell cytotoxicity, production of IFN-gamma and granule exocytosis (PubMed:11714776, PubMed:8376943). Optimal expansion and activation of NK cells seems to be dependent on the engagement of CD244 with CD48 expressed on neighboring NK cells (By similarity). Acts as costimulator in NK activation by enhancing signals by other NK receptors such as NCR3 and NCR1 (PubMed:10741393). At early stages of NK cell differentiation may function as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (PubMed:11917118). Involved in the regulation of CD8(+) T-cell proliferation; expression on activated T-cells and binding to CD48 provides costimulatory-like function for neighboring T-cells (By similarity). Inhibits inflammatory responses in dendritic cells (DCs) (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Increased TOX expression concurrent with PD-1, Tim-3, and CD244 in T cells from patients with non-Hodgkin lymphoma., [RefSeq, PubMed]; NKG2D Engagement Alone Is Sufficient to Activate Cytokine-Induced Killer Cells While 2B4 Only Provides Limited Coactivation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q5VYI2;Q5VYI6;Q5VYI7;Q96T47;Q9NQD2;Q9NQD3;Q9Y288", "ec_number_list": [], "go_molecular_function": "GO:0042288 MHC class I protein binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0002250 adaptive immune response;GO:0032729 positive regulation of type II interferon production;GO:0032757 positive regulation of interleukin-8 production", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q9BZW8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y586-1", "uniprot_id": [ { "id": "MB212_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y586", "type": "external" } ], "mass": 40923.0, "length": 359, "protein_name": "Protein mab-21-like 2", "gene_name": "MAB21L2", "organism": "Human", "refseq_name": "protein mab-21-like 2", "refseq_ac": [ { "id": "NP_006430", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006430", "type": "external" } ], "gene_names_uniprotkb": "MAB21L2", "gene_names_refseq": "MAB21L2; MCOPS14; MCSKS14", "protein_names_uniprotkb": "Protein mab-21-like 2", "protein_names_refseq": "protein mab-21-like 2", "tax_id": 9606, "disease": "syndromic microphthalmia 14 (Disease Ontology:DOID:0111802); microphthalmia (Disease Ontology:DOID:10629); coloboma (Disease Ontology:DOID:12270)", "pathway": " (hsa:10586)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10556287;24906020;25719200;26116559;27558071;36010968;39455595", "class_list": "", "function": "Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development. Publication Status: Online-Only, [RefSeq, PubMed]; Mab21 gene family members, mab21l1 and mab21l2, play important roles in regulating eye development. [review] Review article, [RefSeq, PubMed]; Required for several aspects of embryonic development including normal development of the eye., [UniProtKB, PubMed, PubMed]; The two unrelated individuals with a novel oculo-skeletal syndrome with intellectual disability described are heterozygous carriers of the same de novo missense mutation c.151C > T (p.Arg51Cys) in MAB21L2., [RefSeq, PubMed]; These findings support the identification of MAB21L2 as a novel factor involved in human coloboma and highlight the power of genome editing manipulation in model organisms for analysis of the effects of whole exome variation in humans. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is similar to the C. elegans MAB-21 cell fate-determining gene, a downstream target of transforming growth factor-beta signaling. It is thought that this gene may be involved in neural development. The protein encoded by this gene is primarily nuclear, although some cytoplasmic localization has been observed. [provided by RefSeq, Jul 2008]., [RefSeq]; This report provides compelling human genomic and genetic evidence that mutations in MAB21L2 cause major eye malformations., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KP37;Q9HBA7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0007399 nervous system development;GO:0001654 eye development", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y586-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T3J3-1", "uniprot_id": [ { "id": "LRIF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T3J3", "type": "external" } ], "mass": 84568.0, "length": 769, "protein_name": "Ligand-dependent nuclear receptor-interacting factor 1", "gene_name": "LRIF1", "organism": "Human", "refseq_name": "ligand-dependent nuclear receptor-interacting factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001006946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006946", "type": "external" } ], "gene_names_uniprotkb": "LRIF1; C1orf103; RIF1", "gene_names_refseq": "C1orf103; FSHD3; HBiX1; LRIF1; RIF1", "protein_names_uniprotkb": "Ligand-dependent nuclear receptor-interacting factor 1; HBiX1; HP1-binding protein enriched in inactive X chromosome protein 1; Receptor-interacting factor 1", "protein_names_refseq": "HP1-binding protein enriched in inactive X chromosome protein 1; ligand-dependent nuclear receptor-interacting factor 1 isoform 2; receptor-interacting factor 1", "tax_id": 9606, "disease": "facioscapulohumeral muscular dystrophy 3 (Disease Ontology:DOID:0060917)", "pathway": " (hsa:55791)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "17455211;18669648;18691976;19651622;20068231;22544926;23186163;23301498;23481700;23542155;24715725;25218447;25418920;25576301;25645385;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30016453;30059200;30429286;30524438;30620550;31217245;31492838;31844290;32157095;32350084;32357974;32387766;32467133;32488085;32502341;32938616;32938750;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34433824;34509645;34932366;35051231;35132862;35251023;35254053;35289036;35580925;35705054;36010968;36241641;37380887;38665916;39531497;39534244;40307207;40596516", "class_list": "", "function": "LRIF1 interacts directly with HP1 alpha chromoshadow domain via an evolutionarily conserved PXVXL motif within its C-terminus. Importantly, the LRIF1-HP1 alpha interaction is critical for Aurora B activity in the inner centromere., [RefSeq, PubMed]; RIF1 is a novel nuclear matrix transcription repressor: a potential role of RIF1 regulation of nuclear receptor transcriptional activity., [RefSeq, PubMed]; SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action. Publication Status: Online-Only, [RefSeq, PubMed]; Together with SMCHD1, involved in chromosome X inactivation in females by promoting the compaction of heterochromatin (PubMed:23542155). Also able to repress the ligand-induced transcriptional activity of retinoic acid receptor alpha (RARA), possibly through direct recruitment of histone deacetylases (PubMed:17455211). Also required for silencing of the DUX4 locus in somatic cells (PubMed:32467133)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "Q86XS4;Q8N3B6;Q96HT4;Q9NUM5;Q9NV32", "ec_number_list": [], "go_molecular_function": "GO:0042974 nuclear retinoic acid receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016363 nuclear matrix;GO:0001740 Barr body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0009048 dosage compensation by inactivation of X chromosome", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q5T3J3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09038-4", "uniprot_id": [ { "id": "FGF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P09038", "type": "external" } ], "mass": 30770.0, "length": 288, "protein_name": "Fibroblast growth factor 2", "gene_name": "FGF2", "organism": "Human", "refseq_name": "fibroblast growth factor 2 isoform 34 kDa", "refseq_ac": [ { "id": "NP_001997", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001997", "type": "external" } ], "gene_names_uniprotkb": "FGF2; FGFB", "gene_names_refseq": "BFGF; FGF-2; FGF2; FGFB; HBGF-2", "protein_names_uniprotkb": "Fibroblast growth factor 2; Basic fibroblast growth factor; FGF-2; HBGF-2; Heparin-binding growth factor 2; bFGF", "protein_names_refseq": "basic fibroblast growth factor bFGF; fibroblast growth factor 2 (basic); fibroblast growth factor 2 isoform 34 kDa; heparin-binding growth factor 2; prostatropin", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); bone disease (Disease Ontology:DOID:0080001); COVID-19 (Disease Ontology:DOID:0080600); Parkinsonism (Disease Ontology:DOID:0080855); multiple endocrine neoplasia type 1 (Disease Ontology:DOID:10017); hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); cholesteatoma of middle ear (Disease Ontology:DOID:10964); urinary bladder cancer (Disease Ontology:DOID:11054); corneal neovascularization (Disease Ontology:DOID:11382); leiomyoma (Disease Ontology:DOID:127); endometrial cancer (Disease Ontology:DOID:1380); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); breast cancer (Disease Ontology:DOID:1612); retinal vein occlusion (Disease Ontology:DOID:1727); pancreatic cancer (Disease Ontology:DOID:1793); impotence (Disease Ontology:DOID:1875); ovarian cancer (Disease Ontology:DOID:2394); prostate adenocarcinoma (Disease Ontology:DOID:2526); transitional cell carcinoma (Disease Ontology:DOID:2671); dermatitis (Disease Ontology:DOID:2723); high grade glioma (Disease Ontology:DOID:3070); coronary artery disease (Disease Ontology:DOID:3393); breast carcinoma (Disease Ontology:DOID:3459); middle cerebral artery infarction (Disease Ontology:DOID:3525); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); bladder disease (Disease Ontology:DOID:365); macular retinal edema (Disease Ontology:DOID:4449); renal cell carcinoma (Disease Ontology:DOID:4450); cholangiocarcinoma (Disease Ontology:DOID:4947); esophageal cancer (Disease Ontology:DOID:5041); pulmonary hypertension (Disease Ontology:DOID:6432); cocaine abuse (Disease Ontology:DOID:809); cataract (Disease Ontology:DOID:83); chronic ulcer of skin (Disease Ontology:DOID:8549); decubitus ulcer (Disease Ontology:DOID:8717); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); biliary tract disease (Disease Ontology:DOID:9741); diabetic neuropathy (Disease Ontology:DOID:9743); polyarteritis nodosa (Disease Ontology:DOID:9810)", "pathway": " (hsa:2247); (R-HSA-109704); (R-HSA-1257604); (R-HSA-1839122); (R-HSA-1839130); (R-HSA-190322); (R-HSA-190370); (R-HSA-190372); (R-HSA-190373); (R-HSA-190375); (R-HSA-190377); (R-HSA-2033519); (R-HSA-2219530); (R-HSA-2892247); (R-HSA-3000170); (R-HSA-3000171); (R-HSA-5654219); (R-HSA-5654221); (R-HSA-5654227); (R-HSA-5654228); (R-HSA-5654687); (R-HSA-5654688); (R-HSA-5654689); (R-HSA-5654693); (R-HSA-5654695); (R-HSA-5654699); (R-HSA-5654700); (R-HSA-5654704); (R-HSA-5654706); (R-HSA-5654710); (R-HSA-5654712); (R-HSA-5654719); (R-HSA-5654720); (R-HSA-5654726); (R-HSA-5654727); (R-HSA-5654732); (R-HSA-5654733); (R-HSA-5655253); (R-HSA-5655302); (R-HSA-5655332); (R-HSA-5658623); (R-HSA-5673001); (R-HSA-6785807); (R-HSA-6811558); (R-HSA-8851708); (R-HSA-9761174); (R-HSA-9830364); (R-HSA-9839397); (R-HSA-9937080)", "pathway_count": 49, "publication_count": 462, "publication_id_list": "10023775;10053006;10191262;10209961;10219247;10358027;10369418;10490103;10508167;10510379;10574949;10579907;10586089;10618369;10629055;10652257;10867011;10869344;10918587;11027663;11055896;11058569;11084045;11090077;11104795;11120780;11121055;11135627;11136978;11147812;11157491;11278437;11278729;11294897;11297579;11313946;11353842;11356008;11390973;11404481;11418238;11429702;11447289;11463336;11463377;11509569;11546808;11606067;11689702;11702783;11739186;11751684;11781872;11803464;11847221;11855863;11960372;11964394;11997436;12009017;12032311;12065233;12094235;12112473;12121613;12167717;12223527;12242343;12419216;12461689;12600988;12627230;12660731;12767043;12815057;12832402;12974390;12975610;1325671;1379698;1381348;1417798;14506247;14534538;14613973;14634100;14681059;14681828;14688794;14707138;14712222;14715624;14871245;14976204;15029211;15050920;15094036;15116091;15261459;15277698;15282208;15324302;15342941;15356145;15448205;1545823;15479743;15546878;15548653;15584925;15598814;15718470;15805299;15806171;15834429;15863029;15863030;15869882;1587820;15880580;15950906;15955829;16007214;16048438;16091734;16107692;16140923;16153702;16186508;16205632;16236134;16257968;16324873;16339315;16397018;16397896;16451196;16456541;16467200;16507368;16510571;16532037;16540365;1656221;16597617;16606674;16627759;16638743;16647110;16670092;16684964;16764984;16806867;16844695;16846370;16847462;16862074;16872596;16945929;16954206;1697263;16978057;1702556;17068183;1707542;1715580;1716764;17200115;17204602;1721615;17227708;17267691;17314405;17344846;17427945;17458857;17505008;17506876;17525745;17552943;17567999;17572495;17572666;17626883;17698633;1769963;17803937;1785797;17998941;18056464;18061161;18079394;18212089;18243101;18317450;18337450;18353781;18366076;18373495;18381441;18388306;18412956;18447642;18452557;1849658;18552176;18594509;18606717;18644974;18653770;18669637;18754654;18755892;18757403;18757432;18772890;18775330;18829560;18840094;1885605;18925875;18985070;1898771;19054851;19103595;19124156;19128516;19147536;19185485;19185846;19187780;19224897;19279408;19381019;19397496;19411071;19438505;19440552;19544431;19576174;19644473;19652666;19696444;19696931;19715689;19749790;19805105;19809159;19829295;19855393;19920134;19920141;19946327;19962665;20094046;20106510;20117945;20179196;20230531;20231295;20338997;20421966;20478380;20493732;20505756;20505821;20522708;20526341;20549704;20616345;20624125;20709759;20713702;20872845;21049019;21102457;21102635;21160078;21188471;21252155;21317208;21355848;21367659;21368164;21372320;21478295;21616146;21666749;21668414;21689689;21711248;21730069;21779497;21779505;21827948;21871877;21937440;21976531;21984976;21993244;21994466;22046235;22120714;22188813;22205702;22215994;22321063;22383755;22432025;22569528;22588880;22589270;22693070;22750304;22802525;22802530;22837387;22851691;22887036;23086340;23103841;23112089;23124025;23172665;23175443;23298836;23303910;23443682;23455323;23469107;23555662;23558953;23575685;23640895;23967200;24026051;24097101;24218367;2435284;2435575;24357672;24447999;24588013;24743777;24897931;24937142;25114211;25219551;25234944;2538817;2541433;25467007;25781681;26085527;28063628;28302677;28778966;29242379;29393594;29501879;2963012;30315122;31135801;31844290;31848261;32938616;3472745;35580925;3579930;3732516;3780670;38479160;38518781;38665916;38811382;39119899;3964259;40930100;6148751;7510216;7512451;7529288;7543144;7545930;7559490;7637810;7647778;7688835;7691311;7719344;7744773;7773297;7795521;7796300;7809086;7874169;7898939;7907877;7935463;7972015;8052307;8085155;8264585;8394845;8493579;8564983;8589699;8599935;8602263;8609172;8621622;8622701;8640234;8645157;8657148;8663044;8663118;8665852;8668165;8710374;8754806;8755573;8780727;8797861;8798788;8816495;8841188;8845844;8885834;8939933;9013879;9045692;9115237;9139660;9154000;9182757;9279753;9299490;9354794;9438390;9480847;9502772;9538690;9539778;9604935;9632781;9651359;9659899;9659900;9660748;9700203;9723655;9730987;9736340;9736715;9807024;9822675;9857065;9858574;9874564;9895304;9927426", "class_list": "glycogene", "function": "A new FGF2 isoform results from the use of a non-AUG (CUG) translation initiation codon., [RefSeq, PubMed]; Acts as a ligand for FGFR1, FGFR2, FGFR3 and FGFR4 (PubMed:8663044). Also acts as an integrin ligand which is required for FGF2 signaling (PubMed:28302677). Binds to integrin ITGAV:ITGB3 (PubMed:28302677). Plays an important role in the regulation of cell survival, cell division, cell differentiation and cell migration (PubMed:28302677, PubMed:8663044). Functions as a potent mitogen in vitro (PubMed:1721615, PubMed:3732516, PubMed:3964259). Can induce angiogenesis (PubMed:23469107, PubMed:28302677). Mediates phosphorylation of ERK1/2 and thereby promotes retinal lens fiber differentiation (PubMed:29501879)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Alternate protein isoforms arise through the use of AUG and non-AUG (CUG) translation initiation codons., [RefSeq, PubMed]; Cancer-associated fibroblasts promote gastric cancer cell proliferation by paracrine FGF2-driven ribosome biogenesis., [RefSeq, PubMed]; Direct programming of human pluripotent stem cells into endothelial progenitors with SOX17 and FGF2., [RefSeq, PubMed]; Knockdown the moyamoya disease susceptibility gene, RNF213, upregulates the expression of basic fibroblast growth factor and matrix metalloproteinase-9 in bone marrow derived mesenchymal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; LNMAC Promotes Cervical Squamous Cell Carcinoma Lymphatic Metastasis via Epigenetic Regulation of FGF2-Induced Lymphangiogenesis., [RefSeq, PubMed]; The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members bind heparin and possess broad mitogenic and angiogenic activities. This protein has been implicated in diverse biological processes, such as limb and nervous system development, wound healing, and tumor growth. The mRNA for this gene contains multiple polyadenylation sites, and is alternatively translated from non-AUG (CUG) and AUG initiation codons, resulting in five different isoforms with distinct properties. The CUG-initiated isoforms are localized in the nucleus and are responsible for the intracrine effect, whereas, the AUG-initiated form is mostly cytosolic and is responsible for the paracrine and autocrine effects of this FGF. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 1, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 43, "glyco_site_count": 0, "binding_glycan_count": 1, "secondary_ac_list": "A4LBB8;O00527;P78443;Q16443;Q5PY50;Q7KZ11;Q7KZ72;Q9UC54;Q9UCS5;Q9UCS6", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0042056 chemoattractant activity;GO:0042802 identical protein binding;GO:0005125 cytokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0010764 negative regulation of fibroblast migration;GO:1903672 positive regulation of sprouting angiogenesis;GO:0009792 embryo development ending in birth or egg hatching;GO:1905564 positive regulation of vascular endothelial cell proliferation;GO:2001028 positive regulation of endothelial cell chemotaxis", "synthesized_glycan_count": 0, "hit_score": 46.5, "record_id": "P09038-4", "record_type": "protein", "filter_code": "0000000.1101111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPP4-1", "uniprot_id": [ { "id": "NLRC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPP4", "type": "external" } ], "mass": 116159.0, "length": 1024, "protein_name": "NLR family CARD domain-containing protein 4", "gene_name": "NLRC4", "organism": "Human", "refseq_name": "NLR family CARD domain-containing protein 4 isoform a", "refseq_ac": [ { "id": "NP_001186067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186067", "type": "external" } ], "gene_names_uniprotkb": "NLRC4; CARD12; CLAN1; CLAN; IPAF; PRO20215", "gene_names_refseq": "AIFEC; CARD12; CLAN1; CLANA; CLANB; CLANC; CLAND; CLAN; CLR2.1; FCAS4; IPAF; NLRC4", "protein_names_uniprotkb": "NLR family CARD domain-containing protein 4; CARD, LRR, and NACHT-containing protein; CED-4-like protein Clan; Caspase recruitment domain-containing protein 12; Ice protease-activating factor; Ipaf", "protein_names_refseq": "CARD, LRR, and NACHT-containing protein; CED-4-like protein Clan; ICE-protease activating factor; NLR family CARD domain-containing protein 4 isoform a; NOD-like receptor C4; caspase recruitment domain family, member 12; caspase recruitment domain-containing protein 12; nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "tax_id": 9606, "disease": "familial cold autoinflammatory syndrome 4 (Disease Ontology:DOID:0090065); periodic fever-infantile enterocolitis-autoinflammatory syndrome (MONDO:MONDO:0014472)", "pathway": " (hsa:58484); (R-HSA-6803207); (R-HSA-844623)", "pathway_count": 3, "publication_count": 50, "publication_id_list": "10393175;10973264;11237011;11278253;11374873;11390368;11472070;11559530;11717445;12089322;12198154;12545166;12975309;1373520;14688482;15073321;15107016;15580302;16135520;16183742;17284521;20303873;22801494;22854598;22885697;23703390;24516390;25217959;25217960;25385754;25528640;25605939;28228285;28855257;28904123;29557506;29789417;31848261;32983136;33420028;33630763;35051231;35494241;35580925;37846829;38453949;38571451;38652550;39425177;8242741", "class_list": "", "function": "Apaf-1 protein expression did not correlate with Apaf-1 mRNA levels in human leukaemic blasts.Apaf-1 DNA promoter methylation might contribute to the inactivation of Apaf-1 expression, [RefSeq, PubMed]; Human NLRC4 expression promotes cancer survival and associates with type I interferon signaling and immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Key component of inflammasomes that indirectly senses specific proteins from pathogenic bacteria and fungi and responds by assembling an inflammasome complex that promotes caspase-1 activation, cytokine production and macrophage pyroptosis (PubMed:15107016). The NLRC4 inflammasome is activated as part of the innate immune response to a range of intracellular bacteria (By similarity)., [UniProtKB, UniProtKB, PubMed]; NFkappaB and NLRP3/NLRC4 inflammasomes regulate differentiation, activation and functional properties of monocytes in response to distinct SARS-CoV-2 proteins. Publication Status: Online-Only, [RefSeq, PubMed]; NLRC4-mediated pyroptosis was involved in coagulation disorders of acute pancreatitis. Erratum:[J Gene Med. 2026;28(3):e20014. doi: 10.1002/jgm.70089. PMID: 41872051], [RefSeq, PubMed]; This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [RefSeq]; Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC). Publication Status: Online-Only, [RefSeq, PubMed]; [Expressions of NLRP1 and NLRC4 inflammasomes in prostate cancer and their clinical value]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9F8;B2RBQ3;B3KTF0;D6W580;Q96J81;Q96J82;Q96J83", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0061133 endopeptidase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0072557 IPAF inflammasome complex", "go_biological_process": "GO:0046456 icosanoid biosynthetic process;GO:0002221 pattern recognition receptor signaling pathway;GO:0006954 inflammatory response;GO:0043065 positive regulation of apoptotic process;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9NPP4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07996-1", "uniprot_id": [ { "id": "TSP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P07996", "type": "external" } ], "mass": 129383.0, "length": 1170, "protein_name": "Thrombospondin-1", "gene_name": "THBS1", "organism": "Human", "refseq_name": "thrombospondin-1 precursor", "refseq_ac": [ { "id": "NP_003237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003237", "type": "external" } ], "gene_names_uniprotkb": "THBS1; TSP1; TSP", "gene_names_refseq": "THBS-1; THBS1; THBS; TSP-1; TSP1; TSP", "protein_names_uniprotkb": "Thrombospondin-1; Glycoprotein G", "protein_names_refseq": "glycoprotein G; thrombospondin-1 precursor; thrombospondin-1p180; thrombospondin-p50", "tax_id": 9606, "disease": "COVID-19 (Disease Ontology:DOID:0080600); prostate cancer (Disease Ontology:DOID:10283); primary open angle glaucoma (Disease Ontology:DOID:1070); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); Sjogren's syndrome (Disease Ontology:DOID:12894); pancreatic cancer (Disease Ontology:DOID:1793); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); cholangiocarcinoma (Disease Ontology:DOID:4947); myocardial infarction (Disease Ontology:DOID:5844); diabetic retinopathy (Disease Ontology:DOID:8947); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:7057); (R-HSA-114608); (R-HSA-186797); (R-HSA-216083); (R-HSA-3000170); (R-HSA-5083635); (R-HSA-5173214); (R-HSA-8936459)", "pathway_count": 8, "publication_count": 224, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;101549;10209034;10366422;10438935;10508235;10543983;10593924;10605720;10613822;10617663;10640428;10673366;10713152;10734084;10811134;10982388;11067851;11134179;11158588;11237011;11518510;11572855;11713259;11980922;12369853;12391027;12450399;12483298;12496264;12538485;12576332;12585966;12682293;12807887;12975610;1311092;1371676;1435334;14568985;14630798;14681059;14976204;15014436;15113691;15207811;15240572;15297306;15330449;15345499;15383545;15479743;15615512;15713743;15767546;1588291;15899827;16002701;16051604;16216671;16239428;16263699;16331269;16335952;1639841;16407063;16436588;16464858;16474853;16628190;16731529;16740002;16754661;16933105;16945929;17314405;17339034;17367763;17604334;17943726;17968485;18042364;18065761;18226512;18285447;18316480;18559524;18710925;18720094;18775695;19004835;19114653;19159218;19502598;19509293;19542224;19564526;19796186;20033473;2010551;20339092;20705068;20813817;20876458;21081667;21129147;21251937;21252065;21376233;21725049;22403705;22539938;22588082;22777353;22884367;22933705;23090970;23345538;23374253;23583652;23584533;23640497;23889335;2413043;24190977;2430973;24511121;2478219;25328409;2544587;25544610;25597754;25813380;26010396;26768311;27622074;27726376;27742621;28035807;28435517;28514659;29042481;29093181;29137923;2918029;29263244;29314611;29351928;29391424;29393594;29408302;29557506;2963012;29671580;29741879;29964125;3030396;30389923;30429286;31085175;31844290;32125861;32157095;32350084;32357974;32488085;32679764;32938616;33214551;33592498;33912179;33936100;33968037;34019948;34357683;3461443;34725712;35051231;35251023;35318648;35561310;35580925;36010968;36215666;37074911;38237698;38572579;38581244;38665916;38705811;38780057;38960036;40596516;6341993;6457647;6489349;6693501;6777381;7505120;7525578;7541634;7542249;7559467;7685013;8118028;8344274;8467233;8550562;8560266;8609172;8798654;8838667;8900172;8910476;9115237;9251239;9334164;9443892;9565552;9739761;9858236", "class_list": "glycogene", "function": "Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions (PubMed:15014436, PubMed:18285447, PubMed:2430973, PubMed:6489349). Multifunctional, involved in inflammation, angiogenesis, wound healing, reactive oxygen species (ROS) signaling, nitrous oxide (NO) signaling, apoptosis, senescence, aging, cellular self-renewal, stemness, and cardiovascular and metabolic homeostasis (PubMed:10613822, PubMed:11134179, PubMed:1371676, PubMed:14568985, PubMed:24511121, PubMed:29042481, PubMed:32679764). Negatively modulates dendritic cell activation and cytokine release, as part of an autocrine feedback loop, contributing to the resolution of inflammation and immune homeostasis (PubMed:14568985). Ligand for receptor CD47 (PubMed:19004835, PubMed:8550562). Modulates nitrous oxide (NO) signaling via CD47, hence playing a role as a pressor agent, supporting blood pressure (By similarity). Plays a role in endothelial cell senescence, acting via CD47, by increasing the abundance and activation of NADPH oxidase NOX1, and so generating excess ROS (PubMed:29042481). Inhibits stem cell self-renewal, acting via CD47 signaling, probably by regulation of the stem cell transcription factors POU5F1/OCT4, SOX2, MYC/c-Myc and KLF4 (By similarity). Negatively modulates wound healing, acting via CD47 (By similarity). Ligand for receptor CD36 (PubMed:10613822, PubMed:11134179, PubMed:1371676). Involved in inducing apoptosis in podocytes in response to elevated free fatty acids, acting via CD36 (By similarity). Plays a role in suppressing angiogenesis, acting, depending on context, via CD36 or CD47 (PubMed:10613822, PubMed:11134179, PubMed:1371676, PubMed:32679764). Promotes cellular senescence in a TP53-CDKN1A-RB1 signaling-dependent manner (PubMed:29042481). Ligand for immunoglobulin-like cell surface receptor SIRPA (PubMed:24511121). Involved in ROS signaling in non-phagocytic cells, stimulating NADPH oxidase-derived ROS production, acting via interaction with SIRPA (PubMed:24511121). Plays a role in metabolic dysfunction in diet-induced obesity, perhaps acting by exacerbating adipose inflammatory activity; its effects may be mediated, at least in part, through enhanced adipocyte proliferation (By similarity). Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors (By similarity). May be involved in age-related conditions, including metabolic dysregulation, during normal aging (PubMed:29042481, PubMed:32679764)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CircTHBS1 promotes trophoblast cell migration and invasion and inhibits trophoblast apoptosis by regulating miR-136-3p/IGF2R axis., [RefSeq, PubMed]; Decreased thrombospondin-1 impairs endometrial stromal decidualization in unexplained recurrent spontaneous abortiondagger., [RefSeq, PubMed]; Hsa_circ_0007919 promotes pancreatic cancer metastasis by modulating Sp1-mediated THBS1 transcription., [RefSeq, PubMed]; Role of TSP-1 and its receptor ITGB3 in the renal tubulointerstitial injury of focal segmental glomerulosclerosis., [RefSeq, PubMed]; The protein encoded by this gene is a subunit of a disulfide-linked homotrimeric protein. This protein is an adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions. This protein can bind to fibrinogen, fibronectin, laminin, type V collagen and integrins alpha-V/beta-1. This protein has been shown to play roles in platelet aggregation, angiogenesis, and tumorigenesis. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of THBS1 and PDGFD in the immune microenvironment of Helicobacter pylori-associated gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 4, "reported_c_glycosites": 4, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 8, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 8, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 17, "total_c_glycosites": 8, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 5, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1202, "reported_interactions": 1, "missing_score": 0, "biomarker_type": "", "glycan_count": 219, "disease_count": 13, "glyco_site_count": 29, "binding_glycan_count": 1, "secondary_ac_list": "A8K6H4;B4E3J7;B9EGH6;Q15667;Q59E99", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0009986 cell surface", "go_biological_process": "GO:0043032 positive regulation of macrophage activation;GO:0032693 negative regulation of interleukin-10 production;GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:1903588 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;GO:0032914 positive regulation of transforming growth factor beta1 production", "synthesized_glycan_count": 0, "hit_score": 47.4, "record_id": "P07996-1", "record_type": "protein", "filter_code": "0000000.1101111.010000.000000000001000000.1110010000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00463-1", "uniprot_id": [ { "id": "TRAF5_HUMAN", "url": "https://www.uniprot.org/uniprot/O00463", "type": "external" } ], "mass": 64406.0, "length": 557, "protein_name": "TNF receptor-associated factor 5", "gene_name": "TRAF5", "organism": "Human", "refseq_name": "TNF receptor-associated factor 5 isoform b", "refseq_ac": [ { "id": "NP_001029082", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029082", "type": "external" } ], "gene_names_uniprotkb": "TRAF5; RNF84", "gene_names_refseq": "MGC:39780; RNF84; TRAF5", "protein_names_uniprotkb": "TNF receptor-associated factor 5; RING finger protein 84", "protein_names_refseq": "RING finger protein 84; TNF receptor-associated factor 5 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:7188)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10764746;10809768;10880535;10908663;11384837;11607847;15121867;18991276;25418920;26154972;27600516;28218747;28514659;28832583;29242379;29437277;29493099;29557506;29632711;29786170;30429286;30484775;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32938616;32983136;33912179;33936100;33968037;34171305;34357683;34932366;34983361;35051231;35494241;35580925;36010968;36284347;37366426;38642079;8999898;9153189;9162022;9177772;9275204;9488716;9511754;9642260;9718306;9774460;9774977", "class_list": "", "function": "Adapter protein and signal transducer that links members of the tumor necrosis factor receptor family to different signaling pathways by association with the receptor cytoplasmic domain and kinases. Mediates activation of NF-kappa-B and probably JNK. Seems to be involved in apoptosis. Plays a role in mediating activation of NF-kappa-B by EIF2AK2/PKR., [UniProtKB, PubMed]; LncRNA HCG18 upregulates TRAF4/TRAF5 to facilitate proliferation, migration and EMT of epithelial ovarian cancer by targeting miR-29a/b. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing of TRAF5 enhances necroptosis in hepatocellular carcinoma by inhibiting LTBR-mediated NF-kappaB signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The scaffold protein encoded by this gene is a member of the tumor necrosis factor receptor-associated factor (TRAF) protein family and contains a meprin and TRAF homology (MATH) domain, a RING-type zinc finger, and two TRAF-type zinc fingers. TRAF proteins are associated with, and mediate signal transduction from members of the TNF receptor superfamily. This protein is one of the components of a multiple protein complex which binds to tumor necrosis factor (TNF) receptor cytoplasmic domains and mediates TNF-induced activation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]; Tumor necrosis factor receptor-associated factor 5 protects against intimal hyperplasia by regulation of macrophage polarization via directly targeting PPARgamma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DIS9;B4E0A2;Q6FHY1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0031996 thioesterase binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0023035 CD40 signaling pathway;GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0048255 mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O00463-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8ND82-1", "uniprot_id": [ { "id": "Z280C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8ND82", "type": "external" } ], "mass": 83096.0, "length": 737, "protein_name": "Zinc finger protein 280C", "gene_name": "ZNF280C", "organism": "Human", "refseq_name": "zinc finger protein 280C", "refseq_ac": [ { "id": "NP_060136", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060136", "type": "external" } ], "gene_names_uniprotkb": "ZNF280C; SUHW3; ZNF633", "gene_names_refseq": "SUHW3; ZNF280C; ZNF633; ZPET", "protein_names_uniprotkb": "Zinc finger protein 280C; Suppressor of hairy wing homolog 3; Zinc finger protein 633", "protein_names_refseq": "suppressor of hairy wing homolog 3; zinc finger protein 280C; zinc finger protein 633; zinc finger protein proximal to RAD eighteen", "tax_id": 9606, "disease": "", "pathway": " (hsa:55609)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;17525332;18077418;18220336;18491316;18669648;19413330;19691289;20068231;22645359;23186163;24397554;25218447;25576301;25755297;25772364;26154972;26811146;27846572;28904123;29493099;29557506;30379171;30410026;30484775;30567999;31217245;31844290;32119511;32157095;32357974;32387766;32488085;32938616;33592498;33633747;33912179;33968037;33981976;35051231;35561310;35580925;35605119;36010968;36241641", "class_list": "", "function": "May function as a transcription factor., [UniProtKB]; This gene encodes a member of the zinc finger domain-containing protein family. This family member contains multiple Cys2-His2(C2H2)-type zinc finger domains, the most common type of zinc finger domain that self-folds to form a beta-beta-alpha structure that binds a zinc ion. [provided by RefSeq, Aug 2011]., [RefSeq]; ZPET binds ssDNA and localizes to DNA double-strand breaks (DSBs) and stalled replication forks. Erratum:[Genes Dev. 2019 Feb 1;33(3-4):253. doi: 10.1101/gad.324053.119. PMID: 30709902], [RefSeq, PubMed]; Zinc finger protein 280C contributes to colorectal tumorigenesis by maintaining epigenetic repression at H3K27me3-marked loci., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K2V8;Q9NXR3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q8ND82-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95983-1", "uniprot_id": [ { "id": "MBD3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95983", "type": "external" } ], "mass": 32844.0, "length": 291, "protein_name": "Methyl-CpG-binding domain protein 3", "gene_name": "MBD3", "organism": "Human", "refseq_name": "methyl-CpG-binding domain protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001268382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268382", "type": "external" } ], "gene_names_uniprotkb": "MBD3", "gene_names_refseq": "MBD3", "protein_names_uniprotkb": "Methyl-CpG-binding domain protein 3; Methyl-CpG-binding protein MBD3", "protein_names_refseq": "methyl-CpG-binding domain protein 3 isoform 1", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:53615); (R-HSA-3214815); (R-HSA-427389); (R-HSA-6804758); (R-HSA-73762); (R-HSA-8943724); (R-HSA-9679191); (R-HSA-9843940); (R-HSA-9844594); (R-HSA-9845323); (R-HSA-9937850); (R-HSA-9940951); (R-HSA-9976102)", "pathway_count": 13, "publication_count": 218, "publication_id_list": "10082553;10087012;10204490;10330177;10444591;10449787;10748112;10904264;10913176;10922406;10926844;10947852;10970879;10978333;11099047;11102443;11237011;11250901;11378386;11509652;11545734;11739383;11742974;11756549;11781575;11909966;11959841;11959846;12032298;12124384;12183469;12354758;12393749;12419226;12504854;12724404;12869583;14536086;15454082;15456747;1547496;15516265;15643425;15701600;15882967;16115318;16186106;16415179;16418168;16428440;16522641;16567619;16676006;16702404;16707490;16839880;16954381;17081983;17211407;17318177;17646674;17662961;17873065;17974977;18082607;18172008;18391013;18487508;18571423;18644863;18656484;18669648;18794358;19440552;19608861;19690332;19884659;20068231;20223979;20228809;20233713;2028256;20516213;20523938;20660729;21289308;21406692;21490301;21587264;22128185;22398447;22401777;22552008;22684280;22814904;22869377;23186163;23239876;23287862;23301498;23361464;23431171;23641311;24252660;24272870;24307175;24385926;24554700;24584101;24714562;24718924;24920672;25150861;25274305;25418920;25576301;25593309;25728608;25753662;25801024;26002965;26101246;26154972;26375851;26811146;26813693;26910647;26992070;27418187;27418309;27600516;27633282;27732854;27806305;27846572;2805069;28218747;28228285;28273063;28425720;28533432;28832583;28834231;28904123;28977666;29042441;29242379;29393594;29437277;29508533;29557506;29632711;29786170;29945920;30045876;30122475;30134174;30201761;30228260;30315122;30327463;30410026;30833945;30980593;31048504;31154438;31289231;31427381;31530632;31746185;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33264408;33283408;33298915;33592498;33912179;33936100;33968037;34019948;34087483;34229054;34509645;34932366;35051231;35501390;35561310;35580925;36008597;36037972;36241641;36284347;38253038;38359823;40596516;40914422;7491500;7513682;7801123;7969165;8769649;9016654;9150135;9427644;9512513;9651585;9774669;9790534;9804427;9885572", "class_list": "", "function": "Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:12124384, PubMed:16428440, PubMed:28977666). Acts as transcriptional repressor and plays a role in gene silencing (PubMed:10947852, PubMed:18644863). Does not bind to methylated DNA by itself (PubMed:12124384, PubMed:16428440). Binds to a lesser degree DNA containing unmethylated CpG dinucleotides (PubMed:24307175). Recruits histone deacetylases and DNA methyltransferases., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. This gene belongs to a family of nuclear proteins which are characterized by the presence of a methyl-CpG binding domain (MBD). The encoded protein is a subunit of the NuRD, a multisubunit complex containing nucleosome remodeling and histone deacetylase activities. Unlike the other family members, the encoded protein is not capable of binding to methylated DNA. The protein mediates the association of metastasis-associated protein 2 with the core histone deacetylase complex. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]., [RefSeq]; Densely methylated DNA traps Methyl-CpG-binding domain protein 2 but permits free diffusion by Methyl-CpG-binding domain protein 3., [RefSeq, PubMed]; MBD3 promotes hepatocellular carcinoma progression and metastasis through negative regulation of tumour suppressor TFPI2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K4B7;D6W5Z2;Q6PIL9;Q6PJZ9;Q86XF4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008327 methyl-CpG binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0031667 response to nutrient levels;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 22.1, "record_id": "O95983-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8K8P3-1", "uniprot_id": [ { "id": "SFI1_HUMAN", "url": "https://www.uniprot.org/uniprot/A8K8P3", "type": "external" } ], "mass": 147664.0, "length": 1242, "protein_name": "Protein SFI1 homolog", "gene_name": "SFI1", "organism": "Human", "refseq_name": "protein SFI1 homolog isoform a", "refseq_ac": [ { "id": "NP_001007468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007468", "type": "external" } ], "gene_names_uniprotkb": "SFI1; KIAA0542", "gene_names_refseq": "PISD; PPP1R139; SFI1; hSfi1p", "protein_names_uniprotkb": "Protein SFI1 homolog; hSFI1", "protein_names_refseq": "Sfi1 homolog, spindle assembly associated; homolog of yeast Sfi1; protein SFI1 homolog isoform a; protein SFI1 homolog; protein phosphatase 1, regulatory subunit 139", "tax_id": 9606, "disease": "", "pathway": " (hsa:9814); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 122, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14504268;14580337;15498487;15705883;16357211;16462731;16890155;16956364;17081983;17574030;17646400;17719545;18037885;18378770;18477386;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23253480;23348840;23400999;23475216;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24714562;24715725;24982133;25047611;25313408;25532896;25576301;25892735;26728094;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;31197030;31844290;32157095;32265295;32357974;32428554;32488085;32502341;32897882;32938616;32983136;33298915;33402344;33717175;33936100;33968037;33981976;34561969;34932366;35051231;35580925;36010968;36125182;7769006;7790358;8838651", "class_list": "", "function": "Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia., [RefSeq, PubMed]; Human SFI1 and Centrin form a complex critical for centriole architecture and ciliogenesis., [RefSeq, PubMed]; Plays a role in the dynamic structure of centrosome-associated contractile fibers via its interaction with CETN2., [UniProtKB, PubMed]; These results demonstrate that SFI1 is a centrosomal protein that localizes USP9X to the centrosome to stabilize STIL and promote centriole duplication. We propose that the USP9X protection of STIL to facilitate centriole duplication underlies roles of both proteins in human neurodevelopment., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L373;A1L387;A2A2L2;B1AKL9;B5MDB7;B7Z1V6;B7Z8G3;B7ZBE2;B7ZBE3;O60289;Q2TAN8;Q5W1B5;Q86TK0;Q8N4U8;Q8N8C1;Q8WU14", "ec_number_list": [], "go_molecular_function": "GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005814 centriole;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "A8K8P3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14562-1", "uniprot_id": [ { "id": "DHX8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14562", "type": "external" } ], "mass": 139315.0, "length": 1220, "protein_name": "ATP-dependent RNA helicase DHX8", "gene_name": "DHX8", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DHX8 isoform 2", "refseq_ac": [ { "id": "NP_001289552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289552", "type": "external" } ], "gene_names_uniprotkb": "DHX8; DDX8", "gene_names_refseq": "DDX8; DHX8; Dhr2; HRH1; PRP22; PRPF22", "protein_names_uniprotkb": "ATP-dependent RNA helicase DHX8; 3.6.4.13; DEAH box protein 8; RNA helicase HRH1", "protein_names_refseq": "ATP-dependent RNA helicase DHX8 isoform 2; ATP-dependent RNA helicase DHX8; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase); DEAH (Asp-Glu-Ala-His) box polypeptide 8; DEAH box protein 8; RNA helicase HRH1", "tax_id": 9606, "disease": "", "pathway": " (hsa:1659); (R-HSA-72163)", "pathway_count": 2, "publication_count": 160, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16094384;16314458;16809785;16820410;17095540;17322306;17332742;17606899;17924679;18322460;18593880;18669648;18767875;19103666;19165350;19536130;19651622;20068231;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23096351;23186163;23222130;23236153;23345524;23481700;24196718;24304693;24366607;24448447;24714562;24715725;24737827;24914973;25418920;25555158;25576301;2558966;25645385;25810538;25880248;26024233;26154972;26375851;26385511;26420826;26811146;26929215;26969736;26992070;27377154;27459055;27683217;27846572;27862975;28062851;28076346;28502770;28781166;28904123;29237092;29301961;29360106;29361316;29371260;29437277;29493099;29557506;2963332;30315277;30379171;30410026;30429286;30484775;30705154;30728453;30765414;30975767;31217245;31256877;31409651;31844290;32157095;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32897882;32938616;32983136;33123756;33141586;33243851;33298915;33392160;33446560;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34301950;34509645;34561969;34822310;34932366;35051231;35318648;35385551;35580925;36010968;36215666;36241641;36284347;3757028;37938771;38282418;38866787;40596516;7935475;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "Human gastric cancer progression and stabilization of ATG2B through RNF5 binding facilitated by autophagy-associated CircDHX8. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346, PubMed:28502770). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Involved in pre-mRNA splicing as component of the spliceosome. Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome., [UniProtKB, UniProtKB, UniProtKB]; Spliceosomal helicases DDX41/SACY-1 and PRP22/MOG-5 both contribute to proofreading against proximal 3' splice site usage. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the DEAH box polypeptide family. The encoded protein contains the DEAH (Asp-Glu-Ala-His) motif which is characteristic of all DEAH box proteins, and is thought to function as an ATP-dependent RNA helicase that regulates the release of spliced mRNAs from spliceosomes prior to their export from the nucleus. This protein may be required for the replication of human immunodeficiency virus type 1 (HIV-1). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016887 ATP hydrolysis activity;GO:0003724 RNA helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005681 spliceosomal complex;GO:0071013 catalytic step 2 spliceosome;GO:0071007 U2-type catalytic step 2 spliceosome", "go_biological_process": "GO:0006396 RNA processing;GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q14562-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56645-1", "uniprot_id": [ { "id": "PER3_HUMAN", "url": "https://www.uniprot.org/uniprot/P56645", "type": "external" } ], "mass": 131888.0, "length": 1201, "protein_name": "Period circadian protein homolog 3", "gene_name": "PER3", "organism": "Human", "refseq_name": "period circadian protein homolog 3 isoform 2", "refseq_ac": [ { "id": "NP_001276790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276790", "type": "external" } ], "gene_names_uniprotkb": "PER3; GIG13", "gene_names_refseq": "FASPS3; GIG13; PER3", "protein_names_uniprotkb": "Period circadian protein homolog 3; Cell growth-inhibiting gene 13 protein; Circadian clock protein PERIOD 3; hPER3", "protein_names_refseq": "cell growth-inhibiting gene 13 protein; circadian clock protein PERIOD 3; period circadian clock 3; period circadian protein 3; period circadian protein homolog 3 isoform 2; period circadian protein homolog 3", "tax_id": 9606, "disease": "advanced sleep phase syndrome (Disease Ontology:DOID:0050628); advanced sleep phase syndrome 3 (Disease Ontology:DOID:0110013); alcohol use disorder (Disease Ontology:DOID:1574); bipolar disorder (Disease Ontology:DOID:3312)", "pathway": " (hsa:8863); (R-HSA-9931510); (R-HSA-9931521); (R-HSA-9931530); (R-HSA-9932298)", "pathway_count": 5, "publication_count": 43, "publication_id_list": "10790862;10857746;11165242;11232563;11237011;11306557;11865049;12655319;12841365;14750904;15800623;15917222;17346965;17994337;18317514;19413330;1971514;19716732;19805222;23186163;23303907;23452856;23916625;24439663;24577121;26903630;27862975;29784789;30379171;31154438;32157095;32387766;32938616;33912179;34185709;35051231;36215666;37951372;38006223;38253038;38695651;38829707;39402618", "class_list": "", "function": "Circadian gene Per3 promotes astroblastoma progression through the P53/BCL2/BAX signalling pathway., [RefSeq, PubMed]; Lack of association between VNTR variant of the circadian gene (PER3) and major depressive disorder in a sample of a Turkish population., [RefSeq, PubMed]; Moderating effects of PER3 gene DNA methylation on the association between problematic mobile phone use and chronotype among Chinese young adults: Focus on gender differences. Publication Status: Online-Only, [RefSeq, PubMed]; Originally described as a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1, NR1D2, RORA, RORB and RORG, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. Has a redundant role with the other PER proteins PER1 and PER2 and is not essential for the circadian rhythms maintenance. In contrast, plays an important role in sleep-wake timing and sleep homeostasis probably through the transcriptional regulation of sleep homeostasis-related genes, without influencing circadian parameters. Can bind heme., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; PER3 promoter hypermethylation correlates to the progression of pan-cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]., [RefSeq]; Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5H8X4;Q5H8X5;Q969K6;Q96S77;Q96S78;Q9C0J3;Q9NSP9;Q9UGU8", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0019900 kinase binding;GO:0000976 transcription cis-regulatory region binding;GO:0001222 transcription corepressor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045187 regulation of circadian sleep/wake cycle, sleep;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0050821 protein stabilization;GO:0032922 circadian regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "P56645-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16070-1", "uniprot_id": [ { "id": "CD44_HUMAN", "url": "https://www.uniprot.org/uniprot/P16070", "type": "external" } ], "mass": 81538.0, "length": 742, "protein_name": "CD44 antigen", "gene_name": "CD44", "organism": "Human", "refseq_name": "CD44 antigen isoform 1 precursor", "refseq_ac": [ { "id": "NP_000601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000601", "type": "external" } ], "gene_names_uniprotkb": "CD44; LHR; MDU2; MDU3; MIC4", "gene_names_refseq": "CD44; CDW44; CSPG8; ECM-III; ECMR-III; H-CAM; HCELL; HUTCH-1; HUTCH-I; Hermes-1; LHR; MC56; MDU2; MDU3; MIC4; Pgp1", "protein_names_uniprotkb": "CD44 antigen; CDw44; ECMR-III; Epican; Extracellular matrix receptor III; GP90 lymphocyte homing/adhesion receptor; HUTCH-I; Heparan sulfate proteoglycan; Hermes antigen; Hyaluronate receptor; PGP-1; PGP-I; Phagocytic glycoprotein 1; Phagocytic glycoprotein I", "protein_names_refseq": "CD44 antigen isoform 1 precursor; CD44 antigen; CD44 molecule (Indian blood group); GP90 lymphocyte homing/adhesion receptor; Hermes antigen; In(Lu) related-p80; Indian blood group antigen; cell surface glycoprotein CD44; chondroitin sulfate proteoglycan 8; epican; extracellular matrix receptor III; hematopoietic cell E- and L-selectin ligand; heparan sulfate proteoglycan; homing cell adhesion molecule; homing function and Indian blood group system; hyaluronate receptor; phagocyte glycoprotein 1; phagocytic glycoprotein 1; soluble CD44", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); stroke (Disease Ontology:DOID:0051061); prostate cancer (Disease Ontology:DOID:10283); urinary bladder cancer (Disease Ontology:DOID:11054); cholestasis (Disease Ontology:DOID:13580); nephroblastoma (Disease Ontology:DOID:2154); transitional cell carcinoma (Disease Ontology:DOID:2671); breast ductal carcinoma (Disease Ontology:DOID:3007); invasive ductal carcinoma (Disease Ontology:DOID:3008); invasive lobular carcinoma (Disease Ontology:DOID:3457); gastric adenocarcinoma (Disease Ontology:DOID:3717); lung adenocarcinoma (Disease Ontology:DOID:3910); renal cell carcinoma (Disease Ontology:DOID:4450); leiomyomatosis (Disease Ontology:DOID:5138); borna disease (Disease Ontology:DOID:5154); Krukenberg carcinoma (Disease Ontology:DOID:9597)", "pathway": " (hsa:960); (R-HSA-1474228); (R-HSA-202733); (R-HSA-2142845); (R-HSA-216083); (R-HSA-2160916); (R-HSA-6798695); (R-HSA-877300); (R-HSA-9927418); (R-HSA-9927432); (R-HSA-9938206)", "pathway_count": 11, "publication_count": 383, "publication_id_list": "37268159;10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10037799;10067896;10209034;10229672;10366422;10386589;10438935;10543983;10593924;10605720;10606205;10640428;10673366;10706100;10713152;10764623;10809722;10811134;10933060;10982388;10986281;10986460;11158588;11207550;11237011;11256994;11350981;11375993;11463356;11518510;11564780;11568288;11572855;11713259;11779189;11812992;11872628;11972023;11980922;12032545;12040185;12070135;12208882;12438563;12446674;12469115;12496264;12511867;12585966;12682293;12727852;12782713;12807887;1281868;12843408;12883358;12915721;1396683;1426053;14514708;14529530;14586410;14615387;1465456;14722222;14973287;14992719;15000751;15035633;1508672;15090545;15123640;15143187;15208308;15234972;15240572;15322115;15330449;15345499;15383545;15388922;15503855;15510212;15528364;15530433;15591058;15681301;15713743;15721307;1588291;15899827;1591491;15958533;16002701;16051604;16104017;16133547;16237089;16239428;16258728;16297198;16335952;16467876;1649600;16541107;16585556;16631740;16691243;16731529;16737840;16754661;16783819;16785995;16825321;16933105;1698775;1703543;17050540;17064312;1707285;17081983;17085435;17099249;17116209;17125875;17145755;17167768;1717145;17172599;17322099;17332331;17339034;17354228;17379836;17442946;17452516;17505016;17525755;17540771;17563375;17580308;17600130;17608959;17615384;17625065;17968485;18077418;18362138;1840487;18434311;18434317;18452278;18512783;18578522;18591661;18658137;18669648;18691976;18707149;18710925;18757307;18767875;18775695;19010778;19159218;1922057;19279206;19367720;19381274;19502598;19571574;19651622;19657146;19703720;19714641;1991450;20033473;20049711;20068231;2007624;2010551;20130243;20142769;20304997;20363976;2056274;20705068;20962267;21030783;21193412;21297635;21406692;21441952;21659548;21670566;21784848;21864727;22159414;22171320;22539938;22722744;22726066;22884367;23035980;23061660;23090970;23186163;23374253;23399548;23509262;23584533;23589287;23650620;23845380;23945545;24043627;24190977;24417533;2466575;2466576;24715725;24764293;24847057;25116630;25195884;25326458;2538457;25502872;25548167;25576301;25645385;25813380;27452731;27600516;27846572;28832583;28904123;29242379;29298343;29314611;29391424;29493099;29508533;29557506;29632711;2971395;29741879;29777959;30237853;30283273;30459171;30484775;30626607;30833945;31154438;31222486;31844290;32157095;32161166;32162841;32337544;32350084;32488085;32697798;32938616;32983136;33043033;33214551;33239784;33298915;33592498;33691108;33936100;33968037;33981976;34019948;34078123;34171305;34357683;34424761;34433824;3468507;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36213313;36215666;36241641;37006235;37074911;37217939;37453717;37703748;38665916;38985127;39011948;39175947;39182568;39481067;40544280;40914422;41018975;468991;7075587;7505120;7508842;7508860;7508992;7509040;7510216;7514165;7521878;7525578;7527301;7528188;7530745;7541634;7542249;7547873;7559467;7615558;7617032;7657660;7673114;7685013;7690989;7796299;8118028;8148709;8156998;8163559;8166770;8176225;8226919;8282124;8314844;8344274;8352881;8483949;8530158;8550631;8560266;8626565;8631301;8636151;8692836;8798477;8798544;8798654;8838667;8890751;8901634;8910476;9052782;9065415;9083017;9111318;9115292;9143706;9148753;9169774;9242610;9251239;9295288;9382878;9443892;9461298;9565552;9580567;9601098;9693095;9712871;9763524;9852107;9858236", "class_list": "glycogene", "function": "(Microbial infection) Promotes foot-and-mouth disease virus internalization via macropinocytosis., [UniProtKB, PubMed]; CALCR exacerbates renal cell carcinoma progression via stabilizing CD44., [RefSeq, PubMed]; Cell-surface receptor that plays a role in cell-cell interactions, cell adhesion and migration, helping them to sense and respond to changes in the tissue microenvironment (PubMed:16541107, PubMed:19703720, PubMed:22726066). Participates thereby in a wide variety of cellular functions including the activation, recirculation and homing of T-lymphocytes, hematopoiesis, inflammation and response to bacterial infection (PubMed:7528188). Engages, through its ectodomain, extracellular matrix components such as hyaluronan/HA, collagen, growth factors, cytokines or proteases and serves as a platform for signal transduction by assembling, via its cytoplasmic domain, protein complexes containing receptor kinases and membrane proteases (PubMed:18757307, PubMed:23589287). Such effectors include PKN2, the RhoGTPases RAC1 and RHOA, Rho-kinases and phospholipase C that coordinate signaling pathways promoting calcium mobilization and actin-mediated cytoskeleton reorganization essential for cell migration and adhesion (PubMed:15123640). Upon interaction with LGALS9 ligand, activates downstream signaling components including LCK, ERK and MAPK to promotes NK cell activation (PubMed:37006235)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Co-expression of CD44v6 and MMP2 predicts lung metastasis and unfavorable prognosis in osteosarcoma., [RefSeq, PubMed]; Genetic Signatures: CD44 Single-Nucleotide Polymorphisms Affect Cell Surface Expression and Elevate Risk in Head and Neck Squamous Cell Carcinoma. Erratum:[JCO Glob Oncol. 2025 Jan;11:e2400651. doi: 10.1200/GO-24-00651. PMID: 39883899], [RefSeq, PubMed]; RNA-binding protein LSM7 facilitates breast cancer metastasis through mediating alternative splicing of CD44., [RefSeq, PubMed]; Secreted factors from M1 macrophages drive prostate cancer stem cell plasticity by upregulating NANOG, SOX2, and CD44 through NFkappaB-signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 5, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 12, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 55, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 12, "total_reported_o_glycosites": 59, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "total_o_glycosites": 59, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 877, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 81, "disease_count": 16, "glyco_site_count": 72, "binding_glycan_count": 0, "secondary_ac_list": "A5YRN9;B6EAT9;D3DR12;D3DR13;O95370;P22511;Q04858;Q13419;Q13957;Q13958;Q13959;Q13960;Q13961;Q13967;Q13968;Q13980;Q15861;Q16064;Q16065;Q16066;Q16208;Q16522;Q86T72;Q86Z27;Q8N694;Q92493;Q96J24;Q9H5A5;Q9UC28;Q9UC29;Q9UC30;Q9UCB0;Q9UJ36", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005518 collagen binding;GO:0005540 hyaluronic acid binding;GO:0038024 cargo receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016323 basolateral plasma membrane;GO:0045121 membrane raft", "go_biological_process": "GO:0006897 endocytosis;GO:0006954 inflammatory response;GO:0007155 cell adhesion;GO:0016477 cell migration;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 53.6, "record_id": "P16070-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100001001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXQ8-1", "uniprot_id": [ { "id": "CBPA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXQ8", "type": "external" } ], "mass": 49036.0, "length": 436, "protein_name": "Carboxypeptidase A5", "gene_name": "CPA5", "organism": "Human", "refseq_name": "carboxypeptidase A5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001120913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120913", "type": "external" } ], "gene_names_uniprotkb": "CPA5", "gene_names_refseq": "CPA5", "protein_names_uniprotkb": "Carboxypeptidase A5; 3.4.17.-", "protein_names_refseq": "carboxypeptidase A5 isoform 1 precursor; testicular tissue protein Li 32", "tax_id": 9606, "disease": "", "pathway": " (hsa:93979)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;11836249;11920156;12676894;25892735;26375851;29557506;29769354;32387766;35051231", "class_list": "", "function": "Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008]., [RefSeq]; Mutation screening and imprinting analysis of candidate genes for autism in the 7q12 region., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V0G8;Q6ZNI6;Q86SE2;Q86XM3;Q8NA08", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8WXQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9S4-1", "uniprot_id": [ { "id": "CB39L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9S4", "type": "external" } ], "mass": 39088.0, "length": 337, "protein_name": "Calcium-binding protein 39-like", "gene_name": "CAB39L", "organism": "Human", "refseq_name": "calcium-binding protein 39-like", "refseq_ac": [ { "id": "NP_001073138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073138", "type": "external" } ], "gene_names_uniprotkb": "CAB39L", "gene_names_refseq": "CAB39L; MLAA-34; MO25-BETA; MO2L; bA103J18.3", "protein_names_uniprotkb": "Calcium-binding protein 39-like; Antigen MLAA-34; MO25beta; Mo25-like protein", "protein_names_refseq": "MO25beta; U937-associated antigen; antigen MLAA-34; calcium-binding protein 39-like; mo25-like protein; sarcoma antigen NY-SAR-79", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:81617); (R-HSA-380972)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11018120;11237011;12805220;14511394;14517248;14614828;14985505;15579580;15755502;16943194;18439900;18592235;20068231;21240483;22869377;25645385;26154972;26992070;27846572;28904123;29557506;30315122;30779550;31092671;31154438;31844290;32161166;32350084;32357974;32488085;32983136;33141586;33298915;33392160;33537174;33592498;33596023;33717175;33912179;33968037;34357683;37109674;38676926;8549768;8779952", "class_list": "", "function": "Bioinformatics Prediction and Experimental Verification Identify CAB39L as a Diagnostic and Prognostic Biomarker of Kidney Renal Clear Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identification of HLA-A*0201-restricted CTL Epitopes for MLAA-34-specific Immunotherapy for Acute Monocytic Leukemia., [RefSeq, PubMed]; It was proposed that a splice variant MLAA-34 of CAB39L associated with acute monocytic leukemia. MLAA-34 was identified and characterized. Identification and functional characterization of the novel acute monocytic leukemia associated antigen MLAA-34, [RefSeq, PubMed]; Loss of LPAR6 and CAB39L dysregulates the basal-to-luminal urothelial differentiation program, contributing to bladder carcinogenesis., [RefSeq, PubMed]; Our data indicate that MLAA-34 may be used as a prognostic marker for treatment decision-making in acute monocytic leukemia, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TAW6;Q6WG71;Q96FG1;Q9BZ33", "ec_number_list": [], "go_molecular_function": "GO:0043539 protein serine/threonine kinase activator activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9H9S4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28907-1", "uniprot_id": [ { "id": "CD38_HUMAN", "url": "https://www.uniprot.org/uniprot/P28907", "type": "external" } ], "mass": 34328.0, "length": 300, "protein_name": "ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1", "gene_name": "CD38", "organism": "Human", "refseq_name": "ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1", "refseq_ac": [ { "id": "NP_001766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001766", "type": "external" } ], "gene_names_uniprotkb": "CD38", "gene_names_refseq": "ADPRC 1; ADPRC1; CD38; cADPR1", "protein_names_uniprotkb": "ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1; 2'-phospho-ADP-ribosyl cyclase/2'-phospho-cyclic-ADP-ribose transferase; 2'-phospho-ADP-ribosyl cyclase; 2'-phospho-cyclic-ADP-ribose transferase; 2.4.99.20; 3.2.2.-; 3.2.2.6; ADP-ribosyl cyclase 1; ADPRC 1; Cyclic ADP-ribose hydrolase 1; T10; cADPR hydrolase 1", "protein_names_refseq": "2'-phospho-ADP-ribosyl cyclase; 2'-phospho-cyclic-ADP-ribose transferase; ADP-ribosyl cyclase 1; ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1; CD38 antigen (p45); NAD(+) nucleosidase; cluster of differentiation 38; cyclic ADP-ribose hydrolase 1; ecto-nicotinamide adenine dinucleotide glycohydrolase", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:952); (R-HSA-196807)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10331643;10613898;11237011;11248244;11259373;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;1471258;14759258;14966140;15090606;15137942;15381699;15674325;16118205;16154090;16293598;1637327;16690024;16841181;17402747;17604275;17641676;17868694;17914902;18411268;19159218;19349973;19531469;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;22969159;2319135;23212377;23230272;24190977;24717514;24847004;25418920;25502872;25531177;25892735;26375851;26791533;26992070;27090790;27920218;28063628;28467828;28832583;28834231;29242379;29314611;29393594;29493099;29557506;29632046;29769354;29786170;30315122;30573663;32350084;32357974;32387766;32906142;32983136;33087354;33392160;33936100;34185709;34357683;35051231;35154160;35561310;35580925;37074911;38507920;39333474;40914422;4349867;7961800;8182091;8253715;8289818;8527488;8575745;8809081;9074508;9473669;9551996;9754820", "class_list": "", "function": "CD38 in SLE CD4 T cells promotes Ca[2+] flux and suppresses interleukin-2 production by enhancing the expression of GM2 on the surface membrane. Publication Status: Online-Only, [RefSeq, PubMed]; Increased expression of CD38 on endothelial cells in SARS-CoV-2 infection in cynomolgus macaques., [RefSeq, PubMed]; Multifunctional transmembrane glycoprotein able to exert enzymatic activities and also to mobilize calcium, to transduce signals, to adhere to hyaluronan and to other ligands. Synthesizes cyclic ADP-ribose (cADPR), a second messenger for glucose-induced insulin secretion (PubMed:7961800, PubMed:8253715). Synthesizes the Ca(2+) mobilizer nicotinate-adenine dinucleotide phosphate, NAADP(+), from 2'-phospho-cADPR and nicotinic acid, as well as from NADP(+) and nicotinic acid. At both pH 5.0 and pH 7.4 preferentially transforms 2'-phospho-cADPR into NAADP(+), while preferentially cleaving NADP(+) to cADPR and ADPRP rather than into NADDP(+) (PubMed:16690024). Has cADPR hydrolase activity (PubMed:7961800, PubMed:8253715). Functions also as a receptor that binds the ligand CD31 on endothelial cells, promoting lymphocyte activation, proliferation, and migration across the endothelial barrier (PubMed:9551996). Involved in the regulation of crucial dendritic cell functions acquired at the mature stage, such as CCL21-driven migration, survival, and Th1-polarizing activity (PubMed:16293598). In lamina propria T lymphocytes, CD38/CD31 cognate interactions initiate a multistep signaling pathway resulting in activation of LCK anf LAT, followed by cytokine release (PubMed:11259373)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The crystal structure of the soluble extracellular domain of human CD38 to 1.9 A resolution was determined., [RefSeq, PubMed]; The identification of these two forms of CD38 suggests that flipping the catalytic domain from the outside to the inside of the cell may be a mechanism regulating its signaling activity. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Crystal structure analysis demonstrates that the functional molecule is a dimer, with the central portion containing the catalytic site. It is used as a prognostic marker for patients with chronic lymphocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 4, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O00121;O00122;Q96HY4", "ec_number_list": [ { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.99.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.20", "type": "external" }, { "id": "3.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.-", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0016740 transferase activity;GO:0016849 phosphorus-oxygen lyase activity;GO:0061809 NAD+ nucleosidase activity, cyclic ADP-ribose generating;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0031965 nuclear membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0030307 positive regulation of cell growth;GO:0032024 positive regulation of insulin secretion;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P28907-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PIF6-1", "uniprot_id": [ { "id": "MYO7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PIF6", "type": "external" } ], "mass": 241599.0, "length": 2116, "protein_name": "Unconventional myosin-VIIb", "gene_name": "MYO7B", "organism": "Human", "refseq_name": "unconventional myosin-VIIb isoform 2", "refseq_ac": [ { "id": "NP_001073996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073996", "type": "external" } ], "gene_names_uniprotkb": "MYO7B", "gene_names_refseq": "MYO7B", "protein_names_uniprotkb": "Unconventional myosin-VIIb", "protein_names_refseq": "unconventional myosin-VIIb isoform 2; unconventional myosin-VIIb", "tax_id": 9606, "disease": "", "pathway": " (hsa:4648)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19724895;22424782;24715725;24725409;26154972;26812017;26812018;27862975;28228285;28439001;29242379;29557506;29786170;29789417;30429286;30484775;31154438;31844290;32209652;32488085;32502341;32938616;33298915;33968037;34087483;34185709;35051231;35580925;36284347;37217939;37938771;8022818", "class_list": "", "function": "Data revealed that six polymorphisms of F10, PITRM1, PCSK2, JPH3, MYO7B, and AKAP12 were related (P<0.05) to the prevalence of chronic kidney disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Myosins are actin-based motor molecules with ATPase activity. Their highly divergent tails are presumed to bind to membranous compartments, which would be moved relative to actin filaments. As part of the intermicrovillar adhesion complex/IMAC plays a role in epithelial brush border differentiation, controlling microvilli organization and length (PubMed:24725409, PubMed:26812018, PubMed:32209652). May link the complex to the actin core bundle of microvilli., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is found in brush border microvilli of epithelial cells in the intestines and kidneys. The encoded protein is involved in linking protocadherins to the actin cytoskeleton and is essential for proper microvilli function. This protein aids in the accumulation of intermicrovillar adhesion components such as harmonin and ANKS4B, and this accumulation is necessary for normal brush border action. [provided by RefSeq, Jan 2017]., [RefSeq]; The structure of the Myo7b CMF/USH1C PDZ complex provides mechanistic explanations for >20 deafness-causing mutations in Myo7a CMF. Taken together, these findings suggest that binding to PDZ domains, such as those from USH1C, PDZD7, and Whirlin, is a common property of CMFs of Myo7a, Myo7b, and Myo15a., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q14786;Q8TEE1", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0051015 actin filament binding;GO:0000146 microfilament motor activity;GO:0003779 actin binding;GO:0003774 cytoskeletal motor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005903 brush border;GO:0015629 actin cytoskeleton;GO:0016020 membrane;GO:0005902 microvillus", "go_biological_process": "GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0030154 cell differentiation;GO:0030048 actin filament-based movement;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6PIF6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N163-1", "uniprot_id": [ { "id": "CCAR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N163", "type": "external" } ], "mass": 102902.0, "length": 923, "protein_name": "Cell cycle and apoptosis regulator protein 2", "gene_name": "CCAR2", "organism": "Human", "refseq_name": "cell cycle and apoptosis regulator protein 2 isoform 1", "refseq_ac": [ { "id": "NP_066997", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066997", "type": "external" } ], "gene_names_uniprotkb": "CCAR2; DBC1; KIAA1967", "gene_names_refseq": "CCAR2; DBC-1; DBC1; KIAA1967; NET35; p30 DBC; p30DBC", "protein_names_uniprotkb": "Cell cycle and apoptosis regulator protein 2; Cell division cycle and apoptosis regulator protein 2; DBC-1; DBC.1; DBIRD complex subunit KIAA1967; Deleted in breast cancer gene 1 protein; NET35; p30 DBC", "protein_names_refseq": "cell cycle and apoptosis regulator protein 2 isoform 1; cell cycle and apoptosis regulator protein 2; cell division cycle and apoptosis regulator protein 2; deleted in breast cancer 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57805); (R-HSA-3371453)", "pathway_count": 2, "publication_count": 154, "publication_id_list": "10954706;11237011;11747420;12370419;12853476;12917326;12974469;15302935;15364926;15802566;15824730;1586970;16278218;17081983;17287340;17322306;17473282;1754405;18235501;18235502;18445686;18452278;18550409;18669648;18767875;19131338;19218236;19229036;19413330;19415658;19608861;19651622;19664995;19690332;19914676;20058876;20068231;20074560;20160719;20166139;21030595;21406692;22446626;22465953;22541429;22735644;22940245;23186163;23301498;23349863;23352644;23398316;23481700;24126058;24129246;24129315;24275569;24415752;24714562;24715725;24824780;24962073;25218447;25361978;25406032;25418920;25576301;25645385;25661920;25732823;25810538;26154972;26194823;26375851;26728094;26811146;26992070;27503537;27846572;27862975;27920218;28063628;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30245854;30315122;30429286;30779550;30833945;31154438;31217245;31222486;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34509645;34624572;34921839;35051231;35083852;35251023;35318648;35580925;36010968;36284347;37524873;37683133;38665916;39302247;40914422;7585962;8721986;8946918;9305631;9873016;9920933", "class_list": "", "function": "Biological function for DBC-1 in the modulation of ERalpha expression and hormone-independent breast cancer cell survival GeneRIF: DBC-1 functions to modulate ER alpha expression and hormone-independent breast cancer cell survival., [RefSeq, PubMed]; CCAR2 promotes a malignant phenotype of osteosarcoma through Wnt/beta-catenin-dependent transcriptional activation of SPARC., [RefSeq, PubMed]; Caspase-dependent processing of DBC-1 may act as a feed-forward mechanism to promote apoptosis and possibly also tumor suppression., [RefSeq, PubMed]; Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions (PubMed:22446626). Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53-mediated apoptosis (PubMed:18235501, PubMed:18235502, PubMed:23352644). Inhibits SUV39H1 methyltransferase activity (PubMed:19218236). Mediates ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:19131338). Plays a critical role in maintaining genomic stability and cellular integrity following UV-induced genotoxic stress (PubMed:23398316). Regulates the circadian expression of the core clock components NR1D1 and BMAL1 (PubMed:23398316). Enhances the transcriptional repressor activity of NR1D1 through stabilization of NR1D1 protein levels by preventing its ubiquitination and subsequent degradation (PubMed:23398316). Represses the ligand-dependent transcriptional activation function of ESR2 (PubMed:20074560). Acts as a regulator of PCK1 expression and gluconeogenesis by a mechanism that involves, at least in part, both NR1D1 and SIRT1 (PubMed:24415752). Negatively regulates the deacetylase activity of HDAC3 and can alter its subcellular localization (PubMed:21030595). Positively regulates the beta-catenin pathway (canonical Wnt signaling pathway) and is required for MCC-mediated repression of the beta-catenin pathway (PubMed:24824780). Represses ligand-dependent transcriptional activation function of NR1H2 and NR1H3 and inhibits the interaction of SIRT1 with NR1H3 (PubMed:25661920). Plays an important role in tumor suppression through p53/TP53 regulation; stabilizes p53/TP53 by affecting its interaction with ubiquitin ligase MDM2 (PubMed:25732823). Represses the transcriptional activator activity of BRCA1 (PubMed:20160719). Inhibits SIRT1 in a CHEK2 and PSEM3-dependent manner and inhibits the activity of CHEK2 in vitro (PubMed:25361978)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Interaction of DBC1 with polyoma small T antigen promotes its degradation and negatively regulates tumorigenesis., [RefSeq, PubMed]; Mechanistic insights into the dual role of CCAR2/DBC1 in cancer. Review article, [RefSeq, PubMed]; SUMO1-regulated DBC1 promotes p53-dependent stress-induced apoptosis of lens epithelial cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 22, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NL03;B2RB79;D3DSR6;Q6P0Q9;Q8N3G7;Q8N8M1;Q8TF34;Q9H9Q9;Q9HD12;Q9NT55", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0004857 enzyme inhibitor activity;GO:0019899 enzyme binding;GO:0051082 unfolded protein binding;GO:0000993 RNA polymerase II complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005759 mitochondrial matrix;GO:0005819 spindle", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0043065 positive regulation of apoptotic process;GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q8N163-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBI1-1", "uniprot_id": [ { "id": "COMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBI1", "type": "external" } ], "mass": 22151.0, "length": 195, "protein_name": "COMM domain-containing protein 3", "gene_name": "COMMD3", "organism": "Human", "refseq_name": "COMM domain-containing protein 3", "refseq_ac": [ { "id": "NP_036203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036203", "type": "external" } ], "gene_names_uniprotkb": "COMMD3; BUP; C10orf8", "gene_names_refseq": "BUP; C10orf8; COMMD3", "protein_names_uniprotkb": "COMM domain-containing protein 3; Protein Bup; Protein PIL", "protein_names_refseq": "COMM domain-containing protein 3; protein Bup", "tax_id": 9606, "disease": "", "pathway": " (hsa:23412); (R-HSA-6798695); (R-HSA-8951664)", "pathway_count": 3, "publication_count": 165, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22645359;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23637203;23650620;23912815;23986495;24076655;24366543;24636985;24714562;24793695;24793696;25314029;25349211;25355947;25531226;25645385;25802875;25880248;26154972;26344709;26375851;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;27862975;27920218;28063628;28115426;28218747;28228285;28510447;28832583;28855257;28904123;29153394;29242379;29437277;29493099;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30610225;31154438;31844290;32005965;32157095;32265295;32284348;32350084;32357974;32488085;32502341;32983136;33123756;33141586;33298915;33444648;33537174;33592498;33633747;33936100;33968037;34185709;35051231;35318648;35580925;36010968;36445330;37072858;37172566;38459129;8692836;9790970;9887101;9891082", "class_list": "", "function": "COMMD3 loss drives invasive breast cancer growth by modulating copper homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; COMMD3-Mediated Endosomal Trafficking of HER2 Inhibits the Progression of Ovarian Carcinoma., [RefSeq, PubMed]; Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DRU7;Q5T8Y9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:1904813 ficolin-1-rich granule lumen;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006814 sodium ion transport;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q9UBI1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29350-1", "uniprot_id": [ { "id": "PTN6_HUMAN", "url": "https://www.uniprot.org/uniprot/P29350", "type": "external" } ], "mass": 67561.0, "length": 595, "protein_name": "Tyrosine-protein phosphatase non-receptor type 6", "gene_name": "PTPN6", "organism": "Human", "refseq_name": "tyrosine-protein phosphatase non-receptor type 6 isoform 1", "refseq_ac": [ { "id": "NP_002822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002822", "type": "external" } ], "gene_names_uniprotkb": "PTPN6; HCP; PTP1C", "gene_names_refseq": "HCPH; HCP; HPTP1C; PTP-1C; PTPN6; SH-PTP1; SHP-1L; SHP-1; SHP1", "protein_names_uniprotkb": "Tyrosine-protein phosphatase non-receptor type 6; 3.1.3.48; Hematopoietic cell protein-tyrosine phosphatase; PTP-1C; Protein-tyrosine phosphatase 1C; Protein-tyrosine phosphatase SHP-1; SH-PTP1", "protein_names_refseq": "hematopoietic cell phosphatase; hematopoietic cell protein-tyrosine phosphatase; protein-tyrosine phosphatase 1C; protein-tyrosine phosphatase SHP-1; tyrosine-protein phosphatase non-receptor type 6 isoform 1; tyrosine-protein phosphatase non-receptor type 6", "tax_id": 9606, "disease": "juvenile myelomonocytic leukemia (Disease Ontology:DOID:0050458); Noonan syndrome 1 (Disease Ontology:DOID:0060578); anogenital venereal wart (Disease Ontology:DOID:11168); leukemia (Disease Ontology:DOID:1240); Noonan syndrome (Disease Ontology:DOID:3490); cervical cancer (Disease Ontology:DOID:4362)", "pathway": " (hsa:5777); (R-HSA-114604); (R-HSA-1433559); (R-HSA-201556); (R-HSA-210990); (R-HSA-389948); (R-HSA-391160); (R-HSA-432142); (R-HSA-512988); (R-HSA-5690714); (R-HSA-6798695); (R-HSA-877300); (R-HSA-877312); (R-HSA-9008059); (R-HSA-909733); (R-HSA-912526); (R-HSA-912694); (R-HSA-9705671); (R-HSA-9725371); (R-HSA-982772); (R-HSA-983695); (R-HSA-9927353)", "pathway_count": 22, "publication_count": 636, "publication_id_list": 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"class_list": "", "function": "Global and promoter specific hypermethylation of tumor suppressor genes P16, SOCS1, and SHP1 in oral squamous cell carcinoma and oral submucous fibrosis., [RefSeq, PubMed]; Protein phosphatase 6 promotes stemness of colorectal cancer cells., [RefSeq, PubMed]; Regulation of STAT5 phosphorylation and interaction with SHP1 by lnc-AC004893, a long non-coding RNA overexpressed in myeloproliferative neoplasms., [RefSeq, PubMed]; The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. N-terminal part of this PTP contains two tandem Src homolog (SH2) domains, which act as protein phospho-tyrosine binding domains, and mediate the interaction of this PTP with its substrates. This PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling. Multiple alternatively spliced variants of this gene, which encode distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; Tyrosine phosphatase enzyme that plays important roles in controlling immune signaling pathways and fundamental physiological processes such as hematopoiesis (PubMed:14739280, PubMed:29925997). Dephosphorylates and negatively regulate several receptor tyrosine kinases (RTKs) such as EGFR, PDGFR and FGFR, thereby modulating their signaling activities (PubMed:21258366, PubMed:9733788). When recruited to immunoreceptor tyrosine-based inhibitory motif (ITIM)-containing receptors such as immunoglobulin-like transcript 2/LILRB1, programmed cell death protein 1/PDCD1, CD3D, CD22, CLEC12A and other receptors involved in immune regulation, initiates their dephosphorylation and subsequently inhibits downstream signaling events (PubMed:11907092, PubMed:14739280, PubMed:37932456, PubMed:38166031). Modulates the signaling of several cytokine receptors including IL-4 receptor (PubMed:9065461). Additionally, targets multiple cytoplasmic signaling molecules including STING1, LCK or STAT1 among others involved in diverse cellular processes including modulation of T-cell activation or cGAS-STING signaling (PubMed:34811497, PubMed:38532423). Within the nucleus, negatively regulates the activity of some transcription factors such as NFAT5 via direct dephosphorylation. Also acts as a key transcriptional regulator of hepatic gluconeogenesis by controlling recruitment of RNA polymerase II to the PCK1 promoter together with STAT5A (PubMed:37595871)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; [Effect of SHP-1 knockout in airway epithelial cells on emphysema phenotype in chronic obstructive pulmonary disease in mice]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 23, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K306;G3V0F8;Q969V8;Q9UK67", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0017124 SH3 domain binding;GO:0019901 protein kinase binding;GO:0050839 cell adhesion molecule binding;GO:0042169 SH2 domain binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0035335 peptidyl-tyrosine dephosphorylation;GO:0000278 mitotic cell cycle;GO:0007186 G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 64.2, "record_id": "P29350-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61201-1", "uniprot_id": [ { "id": "CSN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P61201", "type": "external" } ], "mass": 51597.0, "length": 443, "protein_name": "COP9 signalosome complex subunit 2", "gene_name": "COPS2", "organism": "Human", "refseq_name": "COP9 signalosome complex subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001137359", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137359", "type": "external" } ], "gene_names_uniprotkb": "COPS2; CSN2; TRIP15", "gene_names_refseq": "ALIEN; COPS2; CSN2; SGN2; TRIP15", "protein_names_uniprotkb": "COP9 signalosome complex subunit 2; Alien homolog; JAB1-containing signalosome subunit 2; SGN2; Signalosome subunit 2; TR-interacting protein 15; TRIP-15; Thyroid receptor-interacting protein 15", "protein_names_refseq": "COP9 constitutive photomorphogenic homolog subunit 2; COP9 signalosome complex subunit 2 isoform 2; COP9 signalosome complex subunit 2; JAB1-containing signalosome subunit 2; TR-interacting protein 15; TRIP-15; alien homolog; thyroid receptor-interacting protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:9318); (R-HSA-5696394); (R-HSA-6781823); (R-HSA-8856825); (R-HSA-8951664); (R-HSA-9013422)", "pathway_count": 6, "publication_count": 326, "publication_id_list": "10097102;10207062;10391953;10436022;10535940;10567358;10597293;10613896;10713076;10769163;10811609;10878807;10931946;10944529;10973499;10983987;10991940;11069780;11071885;11076969;11237011;11247302;11259415;11279143;11285227;11292861;11292862;11337588;11454738;11454741;11585840;11588219;11733065;11904382;11919637;11927540;11961546;11988742;12086608;12101228;12186903;12208738;12221107;12234931;12429842;12451172;12464600;12504025;12504026;12526791;12538644;12609982;12628923;12660172;12682069;12717448;12732143;12759363;12815074;12816948;12944386;12944396;12958364;1317852;14662753;14690597;14726597;14742321;14757770;15134832;15282312;1535555;15361859;15367669;15473838;15537541;15572695;15574592;15601839;15652483;15671180;15688063;15694336;15728179;15799966;15811629;15882621;15964821;16159959;16171779;16223728;16401342;16459302;16460808;16473935;16516836;16547496;16647857;16678110;16707496;16723738;16751180;16790436;16903783;16943200;17081101;17132228;17183367;17220875;17267500;17290000;17332328;17360967;17456551;17497243;17522231;17713526;17785452;17882165;17981804;18032517;18093314;18166656;18199683;18206966;18614043;18775313;18775314;18776931;18805092;18819912;18826954;18835386;18850735;18851830;18926707;19109893;19140243;19250909;19321346;19609301;19617556;1968060;19696798;19732400;19748355;19853559;20068231;20112406;20231386;20351096;20855601;21070792;21102408;21135142;21388382;21447816;21463634;21778237;21863050;21940857;21995445;22118460;22118466;22306028;22357968;22466610;22466611;22466612;22466964;22484487;22537386;2257624;22645359;22902626;22942912;22959436;23045548;23201271;23301498;23319653;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24127601;24186068;24366543;24366607;24384571;24608665;24636985;24680432;24714562;24715725;24746795;24793695;24793696;24958902;25154395;25314029;25349211;25355947;25418920;25435140;25531226;25576301;25645385;25892735;26154972;26344709;26403691;26456823;26460955;26632597;26758079;26811146;26829388;26906416;26992070;27030794;27222660;27314390;27397612;27565346;27600516;27862975;27920218;28063628;28115426;28218747;28228285;28510447;28514659;28832583;28834231;28904123;2890644;29153394;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29671580;29769354;29786170;29789417;30315122;30410026;30484775;30610225;30833945;30896450;31154438;31217245;31431478;31530632;31844290;31848261;31871319;31937595;31998317;32005965;32157095;32161166;32284348;32355176;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33444648;33592498;33691108;33717175;33912179;33968037;34019948;3417785;34185709;34211107;34509645;34932366;35051231;35138101;35251023;35254053;35318648;35580925;36010968;36215666;36241641;36284347;36580660;40596516;40914422;7569928;7776974;7822302;8078911;8168482;8553074;8837779;8876179;9169477;9303539;9326587;9535219;9723620;9790970;9812899;9887101;9891082", "class_list": "", "function": "Essential component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8/ICSBP, possibly via its association with CK2 and PKD kinases. CSN-dependent phosphorylation of TP53 and JUN promotes and protects degradation by the Ubl system, respectively. Involved in early stage of neuronal differentiation via its interaction with NIF3L1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O88950;Q15647;Q6FGP4;Q9BY54;Q9R249;Q9UNI2;Q9UNQ5", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045171 intercellular bridge", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation;GO:0007165 signal transduction;GO:0030182 neuron differentiation;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 33.2, "record_id": "P61201-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4G1-1", "uniprot_id": [ { "id": "COMD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4G1", "type": "external" } ], "mass": 9638.0, "length": 85, "protein_name": "COMM domain-containing protein 6", "gene_name": "COMMD6", "organism": "Human", "refseq_name": "COMM domain-containing protein 6 isoform b", "refseq_ac": [ { "id": "NP_987091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_987091", "type": "external" } ], "gene_names_uniprotkb": "COMMD6; MSTP076", "gene_names_refseq": "Acrg; COMMD6", "protein_names_uniprotkb": "COMM domain-containing protein 6", "protein_names_refseq": "Acrg embryonic lethality minimal region ortholog; COMM domain-containing protein 6 isoform b; COMM domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:170622); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 160, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16573520;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22424782;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23637203;23912815;23986495;24076655;24366543;24366607;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25576301;26154972;26344709;26460955;26632597;26728094;26906416;27030794;27222660;27565346;27846572;27920218;28115426;28218747;28228285;28510447;28832583;28904123;29153394;29242379;29331515;29393594;29437277;29493099;29557506;29632711;30315122;30410026;30484775;30610225;30833945;31154438;31530632;31844290;31848261;31998317;32005965;32157095;32284348;32357974;32387766;32488085;32938616;33298915;33444648;33691108;33936100;33968037;34171305;34211107;34509645;34561969;35051231;35318648;36215666;36241641;36284347;37172566;38459129;9790970;9887101;9891082", "class_list": "", "function": "COMMD6 belongs to a family of NF-kappa-B (see RELA; MIM 164014)-inhibiting proteins characterized by the presence of a COMM domain (see COMMD1; MIM 607238) (de Bie et al., 2006 [PubMed 16573520]).[supplied by OMIM, Mar 2009]., [RefSeq]; Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex. May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. Down-regulates activation of NF-kappa-B. Inhibits TNF-induced NFKB1 activation., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; These data support the significance of COMMD protein-protein interactions and provide new mechanistic insight into the function of this protein family in NF-kappaB signalling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NF28;B7ZLN0;Q5TBK4", "ec_number_list": [], "go_molecular_function": "GO:0051059 NF-kappaB binding", "go_cellular_component": "GO:0005634 nucleus;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "Q7Z4G1-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0A8-1", "uniprot_id": [ { "id": "COMD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0A8", "type": "external" } ], "mass": 21764.0, "length": 199, "protein_name": "COMM domain-containing protein 4", "gene_name": "COMMD4", "organism": "Human", "refseq_name": "COMM domain-containing protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001271306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271306", "type": "external" } ], "gene_names_uniprotkb": "COMMD4", "gene_names_refseq": "COMMD4", "protein_names_uniprotkb": "COMM domain-containing protein 4", "protein_names_refseq": "COMM domain-containing protein 4 isoform 2; COMM domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:54939); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 146, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11230166;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18691976;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23637203;23912815;23986495;24076655;24366543;24366607;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25645385;26154972;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;28115426;28832583;28904123;29153394;29242379;29557506;29786170;30484775;30610225;31217245;31844290;32005965;32157095;32284348;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33592498;33968037;34087483;34171305;34211107;34509645;34932366;35051231;35561310;35580925;37172566;38459129;9790970;9887101;9891082", "class_list": "", "function": "Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Down-regulates activation of NF-kappa-B (PubMed:23637203)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBN4;H3BUL2;Q7L637;Q9NX43", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q9H0A8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30039-1", "uniprot_id": [ { "id": "PBLD_HUMAN", "url": "https://www.uniprot.org/uniprot/P30039", "type": "external" } ], "mass": 31785.0, "length": 288, "protein_name": "Phenazine biosynthesis-like domain-containing protein", "gene_name": "PBLD", "organism": "Human", "refseq_name": "phenazine biosynthesis-like domain-containing protein isoform b", "refseq_ac": [ { "id": "NP_001028255", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028255", "type": "external" } ], "gene_names_uniprotkb": "PBLD; MAWBP", "gene_names_refseq": "HEL-S-306; MAWBP; MAWDBP; PBLD", "protein_names_uniprotkb": "Phenazine biosynthesis-like domain-containing protein; MAWD-binding protein; MAWDBP; Unknown protein 32 from 2D-page of liver tissue", "protein_names_refseq": "MAWD-binding protein; epididymis secretory protein Li 306; epididymis secretory sperm binding protein; phenazine biosynthesis-like domain-containing protein isoform b; phenazine biosynthesis-like domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64081)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;11355021;1286669;15806103;16385451;17555819;22068589;23687415;26594798;29242379;29557506;30833945;31154438;31844290;32938616;33121324;33592498;33912179;34171305;35051231;35140333;39362857;39589880;39779683;39894887", "class_list": "", "function": "Functions as a positive regulator of the antiviral immune response by modulating innate immunity and viral replication by enhancing type I interferon (IFN-I) response (PubMed:39362857, PubMed:39589880, PubMed:39779683). PBLD enhances IFN-I signaling via multiple pathways (PubMed:39362857, PubMed:39589880, PubMed:39779683). Promotes IRF3-mediated IFN-I production and apoptosis, thereby inhibiting viral replication (PubMed:39362857). Upregulates IFN-I response by activating the NF-kappaB signaling pathway, potentially through inhibition of TRIM21-mediated degradation of phosphorylated IKKbeta, thereby sustaining NF-kappaB activation to counteract viral infection (PubMed:39779683). Additionally, promotes the p53-USP4-MAVS signaling axis by stabilizing MAVS through USP4-mediated deubiquitination, thereby enhancing the IFN-I response against RNA virus infection (PubMed:39589880). Acts as a tumor suppressor, regulating development of various cancers (PubMed:23687415, PubMed:26594798)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Long noncoding RNA MEG3 suppresses cell proliferation, migration and invasion, induces apoptosis and paclitaxel-resistance via miR-4513/PBLD axis in breast cancer cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PBLD inhibits angiogenesis via impeding VEGF/VEGFR2-mediated microenvironmental cross-talk between HCC cells and endothelial cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MZJ3;C9JIM0;Q9HCC2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003824 catalytic activity;GO:0016853 isomerase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006915 apoptotic process;GO:0030277 maintenance of gastrointestinal epithelium;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0032481 positive regulation of type I interferon production", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P30039-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01196-1", "uniprot_id": [ { "id": "RUNX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01196", "type": "external" } ], "mass": 48737.0, "length": 453, "protein_name": "Runt-related transcription factor 1", "gene_name": "RUNX1", "organism": "Human", "refseq_name": "runt-related transcription factor 1 isoform AML1b", "refseq_ac": [ { "id": "NP_001001890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001890", "type": "external" } ], "gene_names_uniprotkb": "RUNX1; AML1; CBFA2", "gene_names_refseq": "AML1-EVI-1; AML1; AMLCR1; CBF2alpha; CBFA2; EVI-1; PEBP2aB; PEBP2alpha; RUNX1", "protein_names_uniprotkb": "Runt-related transcription factor 1; Acute myeloid leukemia 1 protein; CBF-alpha-2; Core-binding factor subunit alpha-2; Oncogene AML-1; PEA2-alpha B; PEBP2-alpha B; Polyomavirus enhancer-binding protein 2 alpha B subunit; SL3-3 enhancer factor 1 alpha B subunit; SL3/AKV core-binding factor alpha B subunit", "protein_names_refseq": "AML1-ETO fusion protein; AML1-ETO fusion; AML1-EVI-1 fusion protein; PEA2-alpha B; PEBP2-alpha B; SL3-3 enhancer factor 1 alpha B subunit; SL3/AKV core-binding factor alpha B subunit; acute myeloid leukemia 1 protein; core-binding factor, runt domain, alpha subunit 2; mutant RUNX1; oncogene AML-1; polyomavirus enhancer-binding protein 2 alpha B subunit; runt related transcription factor 1; runt-related transcription factor 1 isoform AML1b", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); stomach cancer (Disease Ontology:DOID:10534); endometrial cancer (Disease Ontology:DOID:1380); endometriosis (Disease Ontology:DOID:289); colon signet ring adenocarcinoma (Disease Ontology:DOID:3033); middle cerebral artery infarction (Disease Ontology:DOID:3525); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); hepatocellular carcinoma (Disease Ontology:DOID:684); acute myeloid leukemia (Disease Ontology:DOID:9119); hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 (MONDO:MONDO:0100083)", "pathway": " (hsa:861); (R-HSA-1912408); (R-HSA-549127); (R-HSA-8877330); (R-HSA-8931987); (R-HSA-8934593); (R-HSA-8935964); (R-HSA-8936459); (R-HSA-8939236); (R-HSA-8939242); (R-HSA-8939243); (R-HSA-8939245); (R-HSA-8939246); (R-HSA-8939247); (R-HSA-8939256); (R-HSA-8941333); (R-HSA-8951936); (R-HSA-9018519); (R-HSA-9616222); (R-HSA-9692916); (R-HSA-9942503)", "pathway_count": 21, "publication_count": 409, "publication_id_list": "10072434;10196521;10207087;10233885;10330422;10404214;10455134;10500157;10508512;10533284;10545320;10617663;10828826;10856244;10873660;10966924;11010967;11034064;11049997;11103799;11136970;11165043;11237011;11242107;11276260;11340171;11345900;11369759;11410592;11452016;11564866;11581164;11682626;11684017;11742995;11847229;11867521;11965546;12089149;12091906;12172539;12217689;12220513;12242300;12372408;12377125;12384147;12483298;12498683;12504904;12576332;12612073;12702500;12809493;12869508;12917624;12959972;1423235;14517214;14561740;14608356;14631847;14674884;14675539;14970218;14991602;15001666;15107849;15138260;15184985;15208624;15276198;15282324;15302935;15331439;15343269;15345050;15472075;15514030;1560822;15678106;15684396;15795384;15986123;16009131;16046058;16046550;16087863;16113099;16287839;1630819;16330770;16612405;16628190;16652147;16751774;16788146;16807400;16873067;16917507;16980581;17013392;17015473;17035307;17063141;1720541;17237358;17270291;17277772;17344417;17377532;17412287;17431401;17463000;17495528;17509534;17510434;17532767;17540598;17540599;17554337;17562868;17589498;17596301;17637753;17666587;17685488;17690249;17761676;17823410;18187655;18219272;18256232;18280240;18316480;1831692;18322535;18358809;18438928;18476782;18533032;18669648;18695000;18701449;18762174;18776924;18805503;18925961;19001364;19020303;19020999;19098913;19114653;19150886;19202074;19274700;19295514;19321454;19380580;19383337;19398035;19509293;19608861;19651622;19690332;19714243;19718048;19723635;19773441;19800266;20068231;20080834;20090754;20219941;20220130;20339092;20351093;20439113;20442293;20442780;20495621;20498280;20506188;20520637;20547749;20570965;20661648;20682797;20801121;20805998;20876458;20887958;21059642;21106759;21129147;21151129;21252065;21280156;21402699;21445275;21471526;21551231;21571218;21573489;21602795;21723253;21725049;2181374;21835891;21875955;21878914;21934649;21940756;21993314;22012064;22046132;22056668;22110129;22253733;22265404;22312431;22318203;22325351;22371011;22474248;22492511;22545144;22704330;22759635;22777353;22897851;23001182;23034403;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23483519;23723241;23906331;24167369;24229708;24275569;24371278;24379003;24388988;24509444;24584857;24622840;24735615;24854014;24854081;24885040;24973012;24998469;25043025;25134913;25135833;2524830;25296600;25365482;25394790;25433557;25452107;25542856;25562167;25576301;25633194;25663755;25674852;25728767;25764917;25784653;25907116;26010396;26056233;26060100;26153859;26154972;26204489;26320399;26378163;26462610;26479350;26522469;26716895;26735887;26749280;26916619;26977885;26992070;27062924;27137657;27164085;27203180;2721961;27655845;27846572;27886276;28148787;28533407;28539435;28904123;29101237;2919170;29294448;29351928;29431622;29557506;29605689;30185776;30315122;30349386;3045126;30779550;31034780;31154438;31231549;31291378;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32549768;32728199;3281094;32938750;33060197;33214551;33592498;33968037;34019948;34087483;34531288;3498214;35051231;35132862;35254053;35318648;35580925;35705054;35959452;36284347;3677090;38665916;38778047;39102635;39210855;39247813;39271940;39937190;40307207;40596516;7533526;7541640;7559524;7651838;7761424;7780150;7795214;7835892;7862113;7891692;7919324;7935485;7937828;7989337;8195246;8197458;8313895;8334990;8353289;8386878;8395054;8413232;8419924;8490181;8634147;8647271;8668214;8695841;8700862;8846917;8876171;8878478;9119228;9177240;9199349;9201922;9260930;9338790;9388265;9520460;9596646;9611253;9655880;9671459;9685390;9693032;9731700;9744804;9751710;9989503", "class_list": "", "function": "CDK9 phosphorylates RUNX1 to promote megakaryocytic fate in megakaryocytic-erythroid progenitors., [RefSeq, PubMed]; Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their regulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core site of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters (Probable). Essential for the development of normal hematopoiesis (PubMed:17431401). Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the BLK promoter (PubMed:10207087, PubMed:14970218). Inhibits KAT6B-dependent transcriptional activation (By similarity). Involved in lineage commitment of immature T cell precursors. CBF complexes repress ZBTB7B transcription factor during cytotoxic (CD8+) T cell development. They bind to RUNX-binding sequence within the ZBTB7B locus acting as transcriptional silencer and allowing for cytotoxic T cell differentiation. CBF complexes binding to the transcriptional silencer is essential for recruitment of nuclear protein complexes that catalyze epigenetic modifications to establish epigenetic ZBTB7B silencing (By similarity). Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Isoform AML-1G shows higher binding activities for target genes and binds TCR-beta-E2 and RAG-1 target site with threefold higher affinity than other isoforms. It is less effective in the context of neutrophil terminal differentiation., [UniProtKB, UniProtKB]; Isoform AML-1L interferes with the transactivation activity of RUNX1., [UniProtKB, PubMed]; RUNX1 interacts with lncRNA SMANTIS to regulate monocytic cell functions. Publication Status: Online-Only, [RefSeq, PubMed]; RUNX1-PDIA5 Axis Promotes Malignant Progression of Glioblastoma by Regulating CCAR1 Protein Expression. Publication Status: Online-Only, [RefSeq, PubMed]; RUNX1-induced upregulation of PTGS2 enhances cell growth, migration and invasion in colorectal cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; [Acute myeloid leukemia with mutated RUNX1 at the university hospitals of Strasbourg]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 42, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 13, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8MV94;B2RMS4;D3DSG1;O60472;O60473;O76047;O76089;Q13081;Q13755;Q13756;Q13757;Q13758;Q13759;Q15341;Q15343;Q16122;Q16284;Q16285;Q16286;Q16346;Q16347;Q92479", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0016513 core-binding factor complex", "go_biological_process": "GO:0030854 positive regulation of granulocyte differentiation;GO:1903055 positive regulation of extracellular matrix organization;GO:0002573 myeloid leukocyte differentiation;GO:0043371 negative regulation of CD4-positive, alpha-beta T cell differentiation;GO:0061026 cardiac muscle tissue regeneration", "synthesized_glycan_count": 0, "hit_score": 42.2, "record_id": "Q01196-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76064-1", "uniprot_id": [ { "id": "RNF8_HUMAN", "url": "https://www.uniprot.org/uniprot/O76064", "type": "external" } ], "mass": 55518.0, "length": 485, "protein_name": "E3 ubiquitin-protein ligase RNF8", "gene_name": "RNF8", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF8 isoform 1", "refseq_ac": [ { "id": "NP_003949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003949", "type": "external" } ], "gene_names_uniprotkb": "RNF8; KIAA0646", "gene_names_refseq": "RNF8; hRNF8", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF8; 2.3.2.27; RING finger protein 8; RING-type E3 ubiquitin transferase RNF8; hRNF8", "protein_names_refseq": "C3HC4-type zinc finger protein; E3 ubiquitin-protein ligase RNF8 isoform 1; E3 ubiquitin-protein ligase RNF8; RING-type E3 ubiquitin transferase RNF8; UBC13/UEV-interacting ring finger protein; ring finger protein (C3HC4 type) 8; ring finger protein 8, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:9025); (R-HSA-5693565); (R-HSA-5693571); (R-HSA-5693607); (R-HSA-69473)", "pathway_count": 5, "publication_count": 220, "publication_id_list": "10550055;10572166;10724175;10757784;10766245;10802669;10859164;10866324;10959836;10973490;11025670;11080452;11114888;11139606;11237011;11301010;11322894;11376695;11390408;11390642;11493912;11571274;11573085;11604075;11702069;11893489;11927591;11934988;11955432;12023295;12077346;12152085;12186630;12231622;12364621;12447390;12485996;12509254;12545175;12578958;12607003;12607005;12697768;12773400;12791985;12792649;12832489;12890688;12897153;12947387;14560035;14561766;14576433;14981089;15064416;15177042;15189136;15190204;15201865;15279782;15451442;15468306;15574327;15707391;15723659;16061182;16093244;16148040;16150728;16153896;16215985;16327781;16360315;16377563;16427009;16439204;16439205;16530042;16600297;16651405;16874298;16885023;16914548;17290226;17470781;17525332;17525340;17553757;17575048;17724460;17848578;17928296;17965729;18001824;18001825;18006705;18046455;18077395;18171670;18337245;18397950;18443292;18644861;18669648;18678647;18805091;18923075;18948756;18971343;19001859;19015238;19092802;19117993;19124460;19176521;19202061;19203578;19203579;19234442;19261749;19351884;19357644;19419957;19505854;19690332;19782031;20016603;20023648;20154705;20233725;20351172;20550933;21052091;21240188;21263215;21282113;21293379;21325134;21335604;21558560;21659603;21680713;21777809;21857671;21911360;22021381;22024395;22179609;22231403;22234877;22266820;22373579;22405594;22508508;22529269;22531782;22589545;22635276;22661229;22661230;22705371;22792074;22865450;22908299;22977173;22980979;23115235;23186163;23233665;23306437;23333306;23345434;23468639;23505375;23727112;24236237;24667604;25113031;25122754;25512557;25512560;25558984;25659039;25818648;25841101;27920218;28832583;29242379;29786170;29789417;30429286;30484775;31844290;31848261;32157095;32938616;32983136;33298915;33592498;33710666;33968037;34932366;35051231;35428760;36010968;36172813;37154586;37468549;37938771;39004272;8422676;8944023;9168116;9259561;9430729;9488723;9512523;9705271;9826654;9852682", "class_list": "", "function": "CAMK2D serves as a molecular scaffold for RNF8-MAD2 complex to induce mitotic checkpoint in glioma., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that plays a key role in DNA damage signaling via 2 distinct roles: by mediating the 'Lys-63'-linked ubiquitination of histones H2A and H2AX and promoting the recruitment of DNA repair proteins at double-strand breaks (DSBs) sites, and by catalyzing 'Lys-48'-linked ubiquitination to remove target proteins from DNA damage sites. Following DNA DSBs, it is recruited to the sites of damage by ATM-phosphorylated MDC1 and catalyzes the 'Lys-63'-linked ubiquitination of histones H2A and H2AX, thereby promoting the formation of TP53BP1 and BRCA1 ionizing radiation-induced foci (IRIF) (PubMed:18001824, PubMed:18006705). Also controls the recruitment of UIMC1-BRCC3 (RAP80-BRCC36) and PAXIP1/PTIP to DNA damage sites (PubMed:18077395, PubMed:19202061). Promotes the recruitment of NBN to DNA damage sites by catalyzing 'Lys-6'-linked ubiquitination of NBN (PubMed:23115235). Also recruited at DNA interstrand cross-links (ICLs) sites and catalyzes 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Promotes the formation of 'Lys-63'-linked polyubiquitin chains via interactions with the specific ubiquitin-conjugating UBE2N/UBC13 and ubiquitinates non-histone substrates such as PCNA. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation. Also catalyzes the formation of 'Lys-48'-linked polyubiquitin chains via interaction with the ubiquitin-conjugating UBE2L6/UBCH8, leading to degradation of substrate proteins such as CHEK2, JMJD2A/KDM4A and KU80/XRCC5: it is still unclear how the preference toward 'Lys-48'- versus 'Lys-63'-linked ubiquitination is regulated but it could be due to RNF8 ability to interact with specific E2 specific ligases. For instance, interaction with phosphorylated HERC2 promotes the association between RNF8 and UBE2N/UBC13 and favors the specific formation of 'Lys-63'-linked ubiquitin chains. Promotes non-homologous end joining (NHEJ) by promoting the 'Lys-48'-linked ubiquitination and degradation the of KU80/XRCC5. Following DNA damage, mediates the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF168, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites (PubMed:11322894, PubMed:14981089, PubMed:17724460, PubMed:18001825, PubMed:18337245, PubMed:18948756, PubMed:19015238, PubMed:19124460, PubMed:19203578, PubMed:19203579, PubMed:20550933, PubMed:21558560, PubMed:21857671, PubMed:21911360, PubMed:22266820, PubMed:22373579, PubMed:22531782, PubMed:22705371, PubMed:22980979). Following DNA damage, mediates the ubiquitination and degradation of POLD4/p12, a subunit of DNA polymerase delta. In the absence of POLD4, DNA polymerase delta complex exhibits higher proofreading activity (PubMed:23233665). In addition to its function in damage signaling, also plays a role in higher-order chromatin structure by mediating extensive chromatin decondensation. Involved in the activation of ATM by promoting histone H2B ubiquitination, which indirectly triggers histone H4 'Lys-16' acetylation (H4K16ac), establishing a chromatin environment that promotes efficient activation of ATM kinase. Required in the testis, where it plays a role in the replacement of histones during spermatogenesis. At uncapped telomeres, promotes the joining of deprotected chromosome ends by inducing H2A ubiquitination and TP53BP1 recruitment, suggesting that it may enhance cancer development by aggravating telomere-induced genome instability in case of telomeric crisis. Promotes the assembly of RAD51 at DNA DSBs in the absence of BRCA1 and TP53BP1 Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair (PubMed:22865450). May be required for proper exit from mitosis after spindle checkpoint activation and may regulate cytokinesis. May play a role in the regulation of RXRA-mediated transcriptional activity. Not involved in RXRA ubiquitination by UBE2E2 (PubMed:11322894, PubMed:14981089, PubMed:17724460, PubMed:18001825, PubMed:18337245, PubMed:18948756, PubMed:19015238, PubMed:19124460, PubMed:19203578, PubMed:19203579, PubMed:20550933, PubMed:21558560, PubMed:21857671, PubMed:21911360, PubMed:22266820, PubMed:22373579, PubMed:22531782, PubMed:22705371, PubMed:22980979)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RNF8 depletion attenuates hepatocellular carcinoma progression by inhibiting epithelial-mesenchymal transition and enhancing drug sensitivity., [RefSeq, PubMed]; RNF8 up-regulates AR/ARV7 action to contribute to advanced prostate cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; RNF8-mediated multi-ubiquitination of MCM7: Linking disassembly of the CMG helicase with DNA damage response in human cells., [RefSeq, PubMed]; RNF8-ubiquitinated KMT5A is required for RNF168-induced H2A ubiquitination in response to DNA damage., [RefSeq, PubMed]; Results suggest a novel function of RNF8 as a regulator of RXR alpha-mediated transcriptional activity through interaction between their respective N-terminal regions, [RefSeq, PubMed]; The protein encoded by this gene contains a RING finger motif and an FHA domain. This protein has been shown to interact with several class II ubiquitin-conjugating enzymes (E2), including UBE2E1/UBCH6, UBE2E2, and UBE2E3, and may act as an ubiquitin ligase (E3) in the ubiquitination of certain nuclear proteins. This protein is also known to play a role in the DNA damage response and depletion of this protein causes cell growth inhibition and cell cycle arrest. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NN24;A8MYC0;B4DPG0;Q53H16;Q5NKW5", "ec_number_list": [ { "id": "1.14.11.69", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.69", "type": "external" }, { "id": "1.14.11.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.66", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.4.19.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0030496 midbody;GO:0035861 site of double-strand break", "go_biological_process": "GO:0051301 cell division;GO:0006974 DNA damage response;GO:0006302 double-strand break repair;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0010212 response to ionizing radiation", "synthesized_glycan_count": 0, "hit_score": 22.1, "record_id": "O76064-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWD4-1", "uniprot_id": [ { "id": "CC117_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWD4", "type": "external" } ], "mass": 30541.0, "length": 279, "protein_name": "Coiled-coil domain-containing protein 117", "gene_name": "CCDC117", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 117 isoform b", "refseq_ac": [ { "id": "NP_001271192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271192", "type": "external" } ], "gene_names_uniprotkb": "CCDC117", "gene_names_refseq": "CCDC117; dJ366L4.1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 117", "protein_names_refseq": "coiled-coil domain-containing protein 117 isoform b; coiled-coil domain-containing protein 117", "tax_id": 9606, "disease": "", "pathway": " (hsa:150275)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;18477386;23186163;23301498;23481700;24715725;25576301;25880248;26992070;27862975;27920218;28832583;28834231;28904123;29242379;29393594;29557506;29632711;30429286;30742009;31217245;31844290;31848261;32157095;32502341;33592498;33936100;34087483;34171305;35051231", "class_list": "", "function": "Facilitates DNA repair, cell cycle progression, and cell proliferation through its interaction with CIAO2B., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0F1;B7Z2V1;B7Z860;Q6ICA7;Q8N278", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0072686 mitotic spindle", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0045739 positive regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8IWD4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZJ0-1", "uniprot_id": [ { "id": "CRNL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZJ0", "type": "external" } ], "mass": 100452.0, "length": 848, "protein_name": "Crooked neck-like protein 1", "gene_name": "CRNKL1", "organism": "Human", "refseq_name": "crooked neck-like protein 1 isoform b", "refseq_ac": [ { "id": "NP_001265554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265554", "type": "external" } ], "gene_names_uniprotkb": "CRNKL1; CGI-201; CRN; MSTP021", "gene_names_refseq": "CLF; CRNKL1; CRN; Clf1; HCRN; MGCH; MSTP021; SYF3", "protein_names_uniprotkb": "Crooked neck-like protein 1; Crooked neck homolog; hCrn", "protein_names_refseq": "Crn, crooked neck-like 1; SYF3 pre-mRNA-splicing factor; crooked neck homolog; crooked neck pre-mRNA splicing factor-like 1; crooked neck-like 1; crooked neck-like protein 1 isoform b; crooked neck-like protein 1", "tax_id": 9606, "disease": "progressive microcephaly with simplified gyral pattern and cerebellar hypoplasia (Disease Ontology:DOID:0070716); basal cell carcinoma (Disease Ontology:DOID:2513)", "pathway": " (hsa:51340); (R-HSA-72163); (R-HSA-9918481)", "pathway_count": 3, "publication_count": 182, "publication_id_list": "10.1101/2023.09.13.557529;10882114;11014198;11101529;11233976;11237011;11342225;11747608;11991638;12084575;12176931;12411573;12414731;12477934;12801913;14519844;14625303;14713954;14759258;14762106;15084397;15189447;16314458;16809785;17095540;17332742;17606899;18322460;18593880;19103666;19165350;19536130;20068231;20423332;20980672;21536652;2176635;21911577;22110043;22365833;22645359;22869377;22959432;22961380;23186163;23222130;23236153;23345524;23481700;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25418920;25555158;25576301;2558966;25645385;25880248;25892735;26024233;26092250;26154972;26375851;26385511;26420826;26728094;26929215;26969736;26992070;27108190;27377154;27397612;27459055;27600516;27683217;27846572;27920218;28062851;28063628;28076346;28218747;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28855257;28904123;29242379;29301961;29331515;29360106;29361316;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29902443;30315122;30315277;30410026;30599162;30705154;30728453;30765414;30975767;31217245;31409651;31844290;31848261;32157095;32179686;32329775;32357974;32494006;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33177556;33243851;33298915;33392160;33446560;33468685;33509932;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34301950;34561969;34822310;34932366;35051231;35215846;35318648;35385551;35561310;35580925;36010968;36241641;36284347;37217939;3757028;37938771;40857589;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "CRNKL1 Is a Highly Selective Regulator of Intron-Retaining HIV-1 and Cellular mRNAs. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that crooked neck activity appears essential as extracts depleted of hcrn fail to splice pre-mRNA. These and related data support the view that crooked neck is a phylogenetically conserved pre-mRNA splicing factor., [RefSeq, PubMed]; Involved in pre-mRNA splicing process (PubMed:11991638, PubMed:12084575, PubMed:28076346, PubMed:28502770). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Involved in pre-mRNA splicing process. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs., [UniProtKB, UniProtKB]; The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9T4;Q5JY64;Q8WYI5;Q9BZI9;Q9BZJ1;Q9BZJ2;Q9GZW7;Q9H8F8;Q9NQH5;Q9NYD8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0000245 spliceosomal complex assembly", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "Q9BZJ0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08AI8-1", "uniprot_id": [ { "id": "MB214_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08AI8", "type": "external" } ], "mass": 49565.0, "length": 447, "protein_name": "Protein mab-21-like 4", "gene_name": "MAB21L4", "organism": "Human", "refseq_name": "protein mab-21-like 4 isoform 1", "refseq_ac": [ { "id": "NP_001078906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078906", "type": "external" } ], "gene_names_uniprotkb": "MAB21L4; C2orf54", "gene_names_refseq": "C2orf54; MAB21L4", "protein_names_uniprotkb": "Protein mab-21-like 4", "protein_names_refseq": "protein mab-21-like 4 isoform 1; protein mab-21-like 4; uncharacterized protein C2orf54", "tax_id": 9606, "disease": "", "pathway": " (hsa:79919)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;23481700;29557506;31844290;32387766;34087483;34908107;35051231;35705526", "class_list": "", "function": "MAB21L4 Deficiency Drives Squamous Cell Carcinoma via Activation of RET., [RefSeq, PubMed]; MAB21L4 regulates the TGF-beta-induced expression of target genes in epidermal keratinocytes. Erratum:[J Biochem. 2022 Mar 31;171(4):469. doi: 10.1093/jb/mvac016. PMID: 35181785], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KPP9;H7BXM3;Q08AI9;Q53QU5;Q9H622", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q08AI8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48551-1", "uniprot_id": [ { "id": "INAR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P48551", "type": "external" } ], "mass": 57759.0, "length": 515, "protein_name": "Interferon alpha/beta receptor 2", "gene_name": "IFNAR2", "organism": "Human", "refseq_name": "interferon alpha/beta receptor 2 isoform b precursor", "refseq_ac": [ { "id": "NP_000865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000865", "type": "external" } ], "gene_names_uniprotkb": "IFNAR2; IFNABR; IFNARB", "gene_names_refseq": "IFN-R-2; IFN-R; IFN-alpha-REC; IFNABR; IFNAR2; IFNARB; IMD45", "protein_names_uniprotkb": "Interferon alpha/beta receptor 2; IFN-R-2; IFN-alpha binding protein; IFN-alpha/beta receptor 2; Interferon alpha binding protein; Type I interferon receptor 2", "protein_names_refseq": "IFN-alpha/beta receptor 2; IFNalpha/beta receptor subunit 2; human interferon alpha/beta receptor; interferon (alpha, beta and omega) receptor 2; interferon alpha binding protein; interferon alpha/beta receptor 2 isoform b precursor; interferon-alpha/beta receptor beta chain; type I interferon receptor 2", "tax_id": 9606, "disease": "immunodeficiency 45 (Disease Ontology:DOID:0111994); hepatitis B (Disease Ontology:DOID:2043); hepatitis B virus, susceptibility to (MONDO:MONDO:0012488)", "pathway": " (hsa:3455)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;10049744;10556041;11237011;11682488;12105218;12842042;16757563;17001036;17517919;20496919;21819146;21854986;23186163;23481700;24075985;24190977;25502872;26154972;26424569;26992070;27920218;28165510;28218747;28228285;28467828;28832583;28834231;28871256;28904123;29242379;29437277;29508533;29557506;29632711;29671580;30410026;30573663;30779550;31530632;31844290;32350084;32357974;32972995;33141586;33936100;34357683;34433824;35051231;35154160;35251023;35580925;36439115;36672770;36927455;37028439;38760017;39894887;7588638;7665574;7759950;8181059;8798579;8969169;9121453", "class_list": "", "function": "Association of IFNAR1 and IFNAR2 with COVID-19 severity. Erratum:[Lancet Microbe. 2023 Jun;4(6):e394. doi: 10.1016/S2666-5247(23)00116-7. PMID: 37068499], [RefSeq, PubMed]; Polymorphism in interferon alpha/beta receptor contributes to glucocorticoid response and outcome of ARDS and COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Polymorphisms in ACE1, TMPRSS2, IFIH1, IFNAR2, and TYK2 Genes Are Associated with Worse Clinical Outcomes in COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; Potent inhibitor of type I IFN receptor activity., [UniProtKB, PubMed]; TYK2, IFITM3, IFNAR2 and OAS3 single-nucleotide polymorphisms among severe COVID-19 ICU patients in Morocco., [RefSeq, PubMed]; The protein encoded by this gene is a type I membrane protein that forms one of the two chains of a receptor for interferons alpha and beta. Binding and activation of the receptor stimulates Janus protein kinases, which in turn phosphorylate several proteins, including STAT1 and STAT2. The protein belongs to the type II cytokine receptor family. Mutations in this gene are associated with Immunodeficiency 45. [provided by RefSeq, Jul 2020]., [RefSeq]; Together with IFNAR1, forms the heterodimeric receptor for type I interferons (including interferons alpha, beta, epsilon, omega and kappa) (PubMed:10049744, PubMed:10556041, PubMed:21854986, PubMed:26424569, PubMed:28165510, PubMed:32972995, PubMed:7665574, PubMed:7759950, PubMed:8181059, PubMed:8798579, PubMed:8969169). Type I interferon binding activates the JAK-STAT signaling cascade, resulting in transcriptional activation or repression of interferon-regulated genes that encode the effectors of the interferon response (PubMed:10049744, PubMed:17517919, PubMed:21854986, PubMed:26424569, PubMed:28165510, PubMed:32972995, PubMed:7665574, PubMed:7759950, PubMed:8181059, PubMed:8798579, PubMed:8969169). Mechanistically, type I interferon-binding brings the IFNAR1 and IFNAR2 subunits into close proximity with one another, driving their associated Janus kinases (JAKs) (TYK2 bound to IFNAR1 and JAK1 bound to IFNAR2) to cross-phosphorylate one another (PubMed:10556041, PubMed:11682488, PubMed:12105218, PubMed:21854986, PubMed:32972995). The activated kinases phosphorylate specific tyrosine residues on the intracellular domains of IFNAR1 and IFNAR2, forming docking sites for the STAT transcription factors (STAT1, STAT2 and STAT) (PubMed:11682488, PubMed:12105218, PubMed:21854986, PubMed:32972995). STAT proteins are then phosphorylated by the JAKs, promoting their translocation into the nucleus to regulate expression of interferon-regulated genes (PubMed:12105218, PubMed:28165510, PubMed:9121453)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Type I interferon receptor (IFNAR2) deficiency reveals Zika virus cytopathicity in human macrophages and microglia. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8KAJ4;D3DSE8;D3DSE9;Q15467;Q6FHD7", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0019955 cytokine binding;GO:0008269 JAK pathway signal transduction adaptor activity;GO:0004905 type I interferon receptor activity;GO:0019962 type I interferon binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0051607 defense response to virus;GO:0060337 type I interferon-mediated signaling pathway;GO:0009615 response to virus;GO:0035458 cellular response to interferon-beta", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P48551-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q502W7-1", "uniprot_id": [ { "id": "CCD38_HUMAN", "url": "https://www.uniprot.org/uniprot/Q502W7", "type": "external" } ], "mass": 65315.0, "length": 563, "protein_name": "Coiled-coil domain-containing protein 38", "gene_name": "CCDC38", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 38", "refseq_ac": [ { "id": "NP_872302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872302", "type": "external" } ], "gene_names_uniprotkb": "CCDC38", "gene_names_refseq": "CCDC38", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 38", "protein_names_refseq": "coiled-coil domain-containing protein 38", "tax_id": 9606, "disease": "", "pathway": " (hsa:120935)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18077418;19664995;24786987;25074808;31844290;35051231", "class_list": "", "function": "Essential for male fertility. Required for sperm flagellum biogenesis. Also required for acrosome biogenesis. Required for the attachment of developing acrosomes to the nucleus during spermiogenesis and may be involved in the transport of fibrous sheath components., [UniProtKB, UniProtKB]; Strongest signal of association with smoking resistance for a non-synonymous SNP in CCDC38, a gene which has previously been reported to show association with FEV1/FVC, and we demonstrate moderate expression of CCDC38 in bronchial epithelial cells Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N835", "ec_number_list": [], "go_molecular_function": "GO:0061649 ubiquitin-modified histone reader activity", "go_cellular_component": "GO:0061827 sperm head;GO:0005813 centrosome;GO:0048471 perinuclear region of cytoplasm;GO:0036126 sperm flagellum;GO:0002177 manchette", "go_biological_process": "GO:0001675 acrosome assembly;GO:0120316 sperm flagellum assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q502W7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04695-1", "uniprot_id": [ { "id": "K1C17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04695", "type": "external" } ], "mass": 48106.0, "length": 432, "protein_name": "Keratin, type I cytoskeletal 17", "gene_name": "KRT17", "organism": "Human", "refseq_name": "keratin, type I cytoskeletal 17", "refseq_ac": [ { "id": "NP_000413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000413", "type": "external" } ], "gene_names_uniprotkb": "KRT17", "gene_names_refseq": "39.1; CK-17; K17; KRT17; PC2; PCHC1", "protein_names_uniprotkb": "Keratin, type I cytoskeletal 17; 39.1; CK-17; Cytokeratin-17; K17; Keratin-17", "protein_names_refseq": "cytokeratin-17; keratin 17, type I; keratin, type I cytoskeletal 17", "tax_id": 9606, "disease": "pachyonychia congenita (Disease Ontology:DOID:0050449); steatocystoma multiplex (Disease Ontology:DOID:0111556); ectodermal dysplasia (Disease Ontology:DOID:2121); pachyonychia congenita 2 (MONDO:MONDO:0008174)", "pathway": " (hsa:3872); (R-HSA-6805567); (R-HSA-6809371); (R-HSA-9925563)", "pathway_count": 4, "publication_count": 131, "publication_id_list": "10066784;10196183;10231017;10411887;10571744;10588656;10651700;10771479;10844551;11237011;11348474;11350120;11380615;11590230;11874497;11886499;12443847;1281771;12902340;1372562;15033990;15102078;15337775;15373777;15608502;15795121;15795125;15797384;15803139;16061697;16250206;16382671;16620218;16639001;16713453;1691188;1694855;16964243;17081983;1714783;17322306;17515931;17521629;17562024;17596512;17719747;18212344;18547302;18669648;18691976;18767875;18843291;19007248;19190773;19194479;19470054;20068230;20068231;20179351;20657595;20667819;20940292;21326300;21439340;21654840;21997417;22006917;22121020;2248894;22967762;23186163;23278621;23301498;23481192;23629652;23855588;2414304;2481679;25114211;25208914;25218447;25576301;25772364;25926655;26375851;26390218;26853435;29314611;29393594;29508533;29632711;29786170;30059200;30484775;30524438;30620550;31373491;31844290;32157095;32161166;32373127;32938616;33214551;33912179;33968037;34019948;34087483;34171305;34211107;34686882;35051231;35083852;35116305;35580925;37634232;38140561;38547608;38665916;38730319;39159283;39534244;40596516;7539673;7543090;8824274;8999895;9008238;9395522;9468612;9565599;9767294", "class_list": "", "function": "Emerging Prognostic and Predictive Significance of Stress Keratin 17 in HPV-Associated and Non HPV-Associated Human Cancers: A Scoping Review. Publication Status: Online-Only, [RefSeq, PubMed]; Interference KRT17 reverses doxorubicin resistance in triple-negative breast cancer cells by Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; Keratin 17 modulates the immune topography of pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of mutant p53 in HaCaT keratinocytes promotes cadmium-induced keratin 17 expression and cell death., [RefSeq, PubMed]; Repeated stress to the skin amplifies neutrophil infiltration in a keratin 17- and PKCalpha-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the type I intermediate filament chain keratin 17, expressed in nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Mutations in this gene lead to Jackson-Lawler type pachyonychia congenita and steatocystoma multiplex. [provided by RefSeq, Aug 2008]., [RefSeq]; Type I keratin involved in the formation and maintenance of various skin appendages, specifically in determining shape and orientation of hair (By similarity). Required for the correct growth of hair follicles, in particular for the persistence of the anagen (growth) state (By similarity). Modulates the function of TNF in the specific context of hair cycling. Regulates protein synthesis and epithelial cell growth through binding to the adapter protein SFN and by stimulating Akt/mTOR pathway (By similarity). Involved in tissue repair. May be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial 'stem cells'. Acts as a promoter of epithelial proliferation by acting a regulator of immune response in skin: promotes Th1/Th17-dominated immune environment contributing to the development of basaloid skin tumors (By similarity). May act as an autoantigen in the immunopathogenesis of psoriasis, with certain peptide regions being a major target for autoreactive T-cells and hence causing their proliferation., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A5Z1M9;A5Z1N0;A5Z1N1;A5Z1N2;A6NDV6;A6NKQ2;Q6IP98;Q8N1P6", "ec_number_list": [], "go_molecular_function": "GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0045111 intermediate filament cytoskeleton;GO:0001533 cornified envelope;GO:0045095 keratin filament", "go_biological_process": "GO:0030307 positive regulation of cell growth;GO:0030855 epithelial cell differentiation;GO:0045727 positive regulation of translation;GO:0045109 intermediate filament organization;GO:0031069 hair follicle morphogenesis", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q04695-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14653-1", "uniprot_id": [ { "id": "IRF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14653", "type": "external" } ], "mass": 47219.0, "length": 427, "protein_name": "Interferon regulatory factor 3", "gene_name": "IRF3", "organism": "Human", "refseq_name": "interferon regulatory factor 3 isoform 2", "refseq_ac": [ { "id": "NP_001184051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184051", "type": "external" } ], "gene_names_uniprotkb": "IRF3", "gene_names_refseq": "IIAE7; IRF3", "protein_names_uniprotkb": "Interferon regulatory factor 3; IRF-3", "protein_names_refseq": "interferon regulatory factor 3 isoform 2", "tax_id": 9606, "disease": "severe acute respiratory syndrome (Disease Ontology:DOID:2945); brain disease (Disease Ontology:DOID:936); herpes simplex encephalitis, susceptibility to, 7 (MONDO:MONDO:0014680)", "pathway": " (hsa:3661); (R-HSA-1169408); (R-HSA-1606341); (R-HSA-168928); (R-HSA-3134973); (R-HSA-3134975); (R-HSA-3270619); (R-HSA-877300); (R-HSA-9013973); (R-HSA-909733); (R-HSA-918233); (R-HSA-933541); (R-HSA-936440); (R-HSA-936964); (R-HSA-9692916); (R-HSA-9705671); (R-HSA-9833109)", "pathway_count": 17, "publication_count": 469, "publication_id_list": 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"class_list": "", "function": "Activation of the cGAS-STING-IRF3 Axis by Type I and II Interferons Contributes to Host Defense., [RefSeq, PubMed]; Expression of human Interferon Regulatory Factor 3 (IRF-3) in alveolar macrophages relates to clinical and functional traits in COPD. Publication Status: Online-Only, [RefSeq, PubMed]; Key transcriptional regulator of type I interferon (IFN)-dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses (PubMed:22394562, PubMed:24049179, PubMed:25636800, PubMed:27302953, PubMed:31340999, PubMed:36603579, PubMed:8524823, PubMed:39362857). Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (PubMed:11846977, PubMed:16846591, PubMed:16979567, PubMed:20049431, PubMed:32972995, PubMed:36603579, PubMed:8524823). Acts as a more potent activator of the IFN-beta (IFNB) gene than the IFN-alpha (IFNA) gene and plays a critical role in both the early and late phases of the IFNA/B gene induction (PubMed:16846591, PubMed:16979567, PubMed:20049431, PubMed:36603579). Found in an inactive form in the cytoplasm of uninfected cells and following viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling, is phosphorylated by IKBKE and TBK1 kinases (PubMed:22394562, PubMed:25636800, PubMed:27302953, PubMed:36603579). This induces a conformational change, leading to its dimerization and nuclear localization and association with CREB binding protein (CREBBP) to form dsRNA-activated factor 1 (DRAF1), a complex which activates the transcription of the type I IFN and ISG genes (PubMed:16154084, PubMed:27302953, PubMed:33440148, PubMed:36603579). Can activate distinct gene expression programs in macrophages and can induce significant apoptosis in primary macrophages (PubMed:16846591). In response to Sendai virus infection, is recruited by TOMM70:HSP90AA1 to mitochondrion and forms an apoptosis complex TOMM70:HSP90AA1:IRF3:BAX inducing apoptosis (PubMed:25609812). Key transcription factor regulating the IFN response during SARS-CoV-2 infection (PubMed:33440148)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mammalian reovirus micro1 protein attenuates RIG-I and MDA5-mediated signaling transduction by blocking IRF3 phosphorylation and nuclear translocation., [RefSeq, PubMed]; This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to the nucleus and activates the transcription of interferons alpha and beta, as well as other interferon-induced genes. The protein plays an important role in the innate immune response against DNA and RNA viruses. Mutations in this gene are associated with Encephalopathy, acute, infection-induced, herpes-specific, 7. [provided by RefSeq, Sep 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 39, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K7L2;B2RAZ3;Q5FBY1;Q5FBY2;Q5FBY4;Q7Z5G6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0071360 cellular response to exogenous dsRNA;GO:0032727 positive regulation of interferon-alpha production;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 47.2, "record_id": "Q14653-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20273-1", "uniprot_id": [ { "id": "CD22_HUMAN", "url": "https://www.uniprot.org/uniprot/P20273", "type": "external" } ], "mass": 95348.0, "length": 847, "protein_name": "B-cell receptor CD22", "gene_name": "CD22", "organism": "Human", "refseq_name": "B-cell receptor CD22 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001172028", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001172028", "type": "external" } ], "gene_names_uniprotkb": "CD22; SIGLEC2", "gene_names_refseq": "CD22; SIGLEC-2; SIGLEC2", "protein_names_uniprotkb": "B-cell receptor CD22; B-lymphocyte cell adhesion molecule; BL-CAM; Sialic acid-binding Ig-like lectin 2; Siglec-2; T-cell surface antigen Leu-14", "protein_names_refseq": "B-cell receptor CD22 isoform 2 precursor; B-cell receptor CD22; B-lymphocyte cell adhesion molecule; BL-CAM; CD22 antigen; T-cell surface antigen Leu-14; sialic acid-binding Ig-like lectin 2", "tax_id": 9606, "disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745)", "pathway": " (hsa:933); (R-HSA-198933); (R-HSA-5690714); (R-HSA-983695)", "pathway_count": 4, "publication_count": 276, "publication_id_list": "10.1101/2023.09.13.557529;10051622;10079291;10432293;10498607;10499918;10556826;10648173;10706702;10746781;10770799;1081164;10880360;10983984;11042164;11071869;11226282;11237011;11265639;11449366;11466336;11489943;11513152;11556966;11606584;11807247;11857637;11858820;11861603;11901194;11909947;11955593;11955595;11955599;11994425;12181444;12213321;12453414;12456653;12483297;12573241;12588680;1372019;1374290;1375264;1376928;1401903;14719373;14970179;15034010;15057824;15136729;15155468;15161916;15187135;15187158;15304001;15489334;1550550;15509800;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;1599430;16014749;16091383;16129954;16339513;16380601;16393971;16408005;16551255;16737824;16754721;16849466;16893496;16904340;16906149;1691828;16928187;1702903;17045824;1705565;17057721;17224452;17237375;17337780;17452328;17486119;18006696;18025150;18031695;18037897;18052078;18055229;18187424;18209062;18234675;18326500;18420269;18507432;18593354;18596693;18818202;18843204;18995841;19149696;19206206;19249086;19359216;19372136;19592130;1985119;2011584;20172905;20192804;20516366;20730098;21241660;21408196;21469132;21654843;21800138;21822214;21841309;21877119;22180443;22210847;22396535;2303036;2304550;23481700;23695528;23719902;23836650;23929856;24190977;24305946;24366607;24397554;24715725;25418920;25502872;25576301;25703557;25716998;25892735;26154972;26284469;26300885;26375851;26758079;26811146;26992070;27125377;27452731;27689397;27893789;27920218;28218747;28228285;28467828;28832583;28834231;28871256;28904123;28970495;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;30315122;30410026;30524438;30573663;30626607;31019513;31154438;31217245;31530632;31844290;32265295;32350084;32357974;32502341;32648276;32897882;32983136;33141586;33298915;33314603;33691108;33717175;33912179;33936100;33968037;33990399;34078123;34171305;34273351;34330755;34357683;34433824;34561969;34638774;34642489;34932366;3500860;35051231;35154160;35363517;35561310;35580925;36284347;36581221;36848961;38376944;38665916;38711503;39992139;41073662;4589993;6335036;7524079;7528218;7531291;7537381;7538118;7542404;7561031;7592958;7618087;7687428;7687539;7688784;7691807;7706301;7927516;803528;8163536;8178173;8306975;8463235;8475064;8496602;8627166;8647200;8947047;8995416;9143697;9235916;9285412;9314561;9326643;9341187;9382888;9480991;9547345;9601638;9697839;9700512;9705962;9730896;9890995", "class_list": "glycogene", "function": "Associations of plasma soluble CD22 levels with brain amyloid burden and cognitive decline in Alzheimer's disease., [RefSeq, PubMed]; B-cell immune dysregulation with low soluble CD22 levels in refractory seronegative myasthenia gravis. Publication Status: Online-Only, [RefSeq, PubMed]; CAR T cells with dual targeting of CD19 and CD22 in pediatric and young adult patients with relapsed or refractory B cell acute lymphoblastic leukemia: a phase 1 trial., [RefSeq, PubMed]; Deciphering prognostic value of CD22 and its contribution to suppression of proinflammatory cytokines production in patients with IgA nephropathy., [RefSeq, PubMed]; Immunotherapy-resistant acute lymphoblastic leukemia cells exhibit reduced CD19 and CD22 expression and BTK pathway dependency. Publication Status: Online-Only, [RefSeq, PubMed]; Most highly expressed siglec (sialic acid-binding immunoglobulin-like lectin) on B-cells that plays a role in various aspects of B-cell biology including differentiation, antigen presentation, and trafficking to bone marrow (PubMed:34330755, PubMed:8627166). Binds to alpha 2,6-linked sialic acid residues of surface molecules such as CD22 itself, CD45 and IgM in a cis configuration. Can also bind to ligands on other cells as an adhesion molecule in a trans configuration (PubMed:20172905). Acts as an inhibitory coreceptor on the surface of B-cells and inhibits B-cell receptor induced signaling, characterized by inhibition of the calcium mobilization and cellular activation. Mechanistically, the immunoreceptor tyrosine-based inhibitory motif domain is phosphorylated by the Src kinase LYN, which in turn leads to the recruitment of the protein tyrosine phosphatase 1/PTPN6, leading to the negative regulation of BCR signaling (PubMed:8627166). If this negative signaling from is of sufficient strength, apoptosis of the B-cell can be induced (PubMed:20516366)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 15, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 15, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1075, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "F5GYU4;F5H7U3;O95699;O95701;O95702;O95703;Q01665;Q32M46;Q92872;Q92873;Q9UQA6;Q9UQA7;Q9UQA8;Q9UQA9;Q9UQB0;Q9Y2A6", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042609 CD4 receptor binding;GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding;GO:0019903 protein phosphatase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0050849 negative regulation of calcium-mediated signaling;GO:0007155 cell adhesion;GO:0030100 regulation of endocytosis;GO:0042113 B cell activation;GO:0050776 regulation of immune response", "synthesized_glycan_count": 0, "hit_score": 29.7, "record_id": "P20273-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75339-1", "uniprot_id": [ { "id": "CILP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75339", "type": "external" } ], "mass": 132565.0, "length": 1184, "protein_name": "Cartilage intermediate layer protein 1", "gene_name": "CILP", "organism": "Human", "refseq_name": "cartilage intermediate layer protein 1 preproprotein", "refseq_ac": [ { "id": "NP_003604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604", "type": "external" } ], "gene_names_uniprotkb": "CILP; PRO1188", "gene_names_refseq": "CILP-1; CILP1; CILP; HsT18872", "protein_names_uniprotkb": "Cartilage intermediate layer protein 1; CILP-1; Cartilage intermediate-layer protein", "protein_names_refseq": "cartilage intermediate layer protein 1 C1; cartilage intermediate layer protein 1 C2; cartilage intermediate layer protein 1 preproprotein; cartilage intermediate layer protein, nucleotide pyrophosphohydrolase", "tax_id": 9606, "disease": "osteoarthritis (Disease Ontology:DOID:8398); degenerative disc disease (Disease Ontology:DOID:90)", "pathway": " (hsa:8483); (R-HSA-2404192)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10.1038/emboj.2013.79;10319588;10601732;11315923;12483726;12746903;12975309;1310594;14962958;15378262;15864306;1697749;16981855;1845984;19139090;19615748;22140443;23033978;23090970;23584533;24190977;24665079;2839228;29233086;2969892;29741879;29786170;3011795;3013881;3015966;3019338;30288688;30459171;31844290;32983136;35051231;35251023;35484284;37074911;37968343;38132152;7493944;9722583;9722584", "class_list": "", "function": "CILP gene polymorphism (rs2073711) is associated with a lower risk of lumbar disc degeneration., [RefSeq, PubMed]; CILP is a potential pan-cancer marker: combined silico study and in vitro analyses., [RefSeq, PubMed]; CILP rs2073711 TT is associated with increased risk of symmetrical hand osteoarthritis particularly in individuals with low variation in work tasks. Publication Status: Online-Only, [RefSeq, PubMed]; CILP-1 Is a Biomarker for Backward Failure and Right Ventricular Dysfunction in HFrEF. Publication Status: Online-Only, [RefSeq, PubMed]; Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]., [RefSeq]; Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 2, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "B2R8F7;Q6UW99;Q8IYI5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0043569 negative regulation of insulin-like growth factor receptor signaling pathway;GO:0060392 negative regulation of SMAD protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "O75339-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IPU0-1", "uniprot_id": [ { "id": "CENPP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IPU0", "type": "external" } ], "mass": 33165.0, "length": 288, "protein_name": "Centromere protein P", "gene_name": "CENPP", "organism": "Human", "refseq_name": "centromere protein P isoform a", "refseq_ac": [ { "id": "NP_001012267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012267", "type": "external" } ], "gene_names_uniprotkb": "CENPP", "gene_names_refseq": "CENP-P; CENPP", "protein_names_uniprotkb": "Centromere protein P; CENP-P", "protein_names_refseq": "centromere protein P isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:401541); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 115, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;18001770;18097444;18716626;18923426;19350017;19398759;19410544;19410545;19696148;19815554;19965387;20030946;20080577;20101212;20566683;20591975;21111234;21148482;21397845;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23028590;23186163;23222643;23801653;24366607;24714562;24914801;25740311;25789526;26154972;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28904123;29437277;29493099;30315122;31409757;31530632;31844290;32157095;32938616;32983136;33592498;33633747;33717175;33968037;34260926;34561969;35051231;35580925;36071244;9649308;9649503;9892021", "class_list": "", "function": "A novel nonsense variant in the CENPP gene segregates in a Swiss family with autosomal dominant low-frequency sensorineural hearing loss., [RefSeq, PubMed]; CENPP is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]., [RefSeq]; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex., [UniProtKB, PubMed]; Data propose that CENP-P/O/R/Q/U self-assembles on kinetochores with varying stoichiometry and undergoes a pre-mitotic maturation step that could be important for kinetochores switching into the correct conformation for microtubule-attachment., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KRA5;B3KS17;Q5T9F8;Q5T9F9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0007059 chromosome segregation;GO:0034080 CENP-A containing chromatin assembly", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q6IPU0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPV0-1", "uniprot_id": [ { "id": "CE164_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPV0", "type": "external" } ], "mass": 164314.0, "length": 1460, "protein_name": "Centrosomal protein of 164 kDa", "gene_name": "CEP164", "organism": "Human", "refseq_name": "centrosomal protein of 164 kDa isoform 2", "refseq_ac": [ { "id": "NP_001258862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258862", "type": "external" } ], "gene_names_uniprotkb": "CEP164; KIAA1052; NPHP15", "gene_names_refseq": "CEP164; NPHP15", "protein_names_uniprotkb": "Centrosomal protein of 164 kDa; Cep164", "protein_names_refseq": "centrosomal protein 164kDa; centrosomal protein of 164 kDa isoform 2", "tax_id": 9606, "disease": "nephronophthisis 15 (Disease Ontology:DOID:0111123); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:22897); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 119, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;17954613;18037885;18283122;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19197159;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;21976302;22094468;22179047;22365832;22433857;22641346;22653444;22863007;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24714562;24982133;25047611;25313408;25532896;25576301;26337392;26728094;26811146;26992070;27893789;27920218;28218747;28832583;28904123;29242379;29393594;29437277;29557506;29632046;30379171;30410026;30429286;31844290;32129703;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33402344;33592498;33912179;33968037;34499853;34509645;35051231;35561310;35580925;36010968;36241641;36273371;38665916;39894887;7769006;7790358;8838651", "class_list": "", "function": "Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome., [RefSeq, PubMed]; Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies., [RefSeq, PubMed]; Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6PKH9;Q7Z2X9;Q9NVS0;Q9UFJ6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole", "go_biological_process": "GO:0006281 DNA repair;GO:0051301 cell division;GO:0060271 cilium assembly;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q9UPV0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O96005-1", "uniprot_id": [ { "id": "CLPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/O96005", "type": "external" } ], "mass": 76097.0, "length": 669, "protein_name": "Putative lipid scramblase CLPTM1", "gene_name": "CLPTM1", "organism": "Human", "refseq_name": "putative lipid scramblase CLPTM1 isoform 3", "refseq_ac": [ { "id": "NP_001269104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269104", "type": "external" } ], "gene_names_uniprotkb": "CLPTM1", "gene_names_refseq": "CLPTM1", "protein_names_uniprotkb": "Putative lipid scramblase CLPTM1; Cleft lip and palate transmembrane protein 1", "protein_names_refseq": "CLPTM1, transmembrane protein; cleft lip and palate associated transmembrane protein 1; cleft lip and palate transmembrane protein 1; putative lipid scramblase CLPTM1 isoform 3; putative lipid scramblase CLPTM1", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); pancreatic cancer (Disease Ontology:DOID:1793); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1209)", "pathway_count": 1, "publication_count": 121, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;16102578;16122939;16247549;16263699;16303743;19159218;21136679;22645359;22869377;23481700;23584533;23783831;24029068;24190977;24275569;24366607;24397554;24714562;25418920;25489052;25502872;25576301;25645385;25813380;25880248;25892735;26154972;26375851;26929215;26992070;27543614;27600516;27846572;27893789;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29242379;29255114;29331515;29371260;29393594;29437277;29493099;29557506;29632046;29741879;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30833945;31009812;31154438;31203567;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35254053;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37074911;37340703;37577761;37938771;38665916;40307207;9828125", "class_list": "", "function": "A single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers, [RefSeq, PubMed]; Authors detected three genome-wide statistically significant single nucleotide polymorphisms mapped to Chromosome 5 CLPTM1L-TERT region., [RefSeq, PubMed]; De novo CLPTM1 variants with reduced GABAA R current response in patients with epilepsy., [RefSeq, PubMed]; Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells, [RefSeq, PubMed]; Involved in GABAergic but not glutamatergic transmission. Binds and traps GABAA receptors in the endoplasmic reticulum (ER). Modulates postsynaptic GABAergic transmission, and therefore inhibitory neurotransmission, by reducing the plasma membrane expression of these receptors. Altered GABAergic signaling is one among many causes of cleft palate (By similarity). Might function as a lipid scramblase, translocating lipids in membranes from one leaflet to the other one (By similarity). Required for efficient glycosylphosphatidylinositol (GPI) inositol deacylation in the ER, which is a crucial step to switch GPI-anchored proteins (GPI-APs) from protein folding to transport states (PubMed:29255114). May play a role in T-cell development (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 3, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 3, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B3KQH2;B4DDS3;B4E2X9;B7Z9X9;F5H8J3;Q53ET6;Q9BSS5", "ec_number_list": [], "go_molecular_function": "GO:0050811 GABA receptor binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009897 external side of plasma membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0033081 regulation of T cell differentiation in thymus;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "O96005-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25063-1", "uniprot_id": [ { "id": "CD24_HUMAN", "url": "https://www.uniprot.org/uniprot/P25063", "type": "external" } ], "mass": 8083.0, "length": 80, "protein_name": "Signal transducer CD24", "gene_name": "CD24", "organism": "Human", "refseq_name": "signal transducer CD24 isoform b", "refseq_ac": [ { "id": "NP_001278668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278668", "type": "external" } ], "gene_names_uniprotkb": "CD24; CD24A", "gene_names_refseq": "CD24A; CD24", "protein_names_uniprotkb": "Signal transducer CD24; Small cell lung carcinoma cluster 4 antigen", "protein_names_refseq": "CD24 antigen (small cell lung carcinoma cluster 4 antigen); signal transducer CD24 isoform b; signal transducer CD24", "tax_id": 9606, "disease": "multiple sclerosis (Disease Ontology:DOID:2377); multiple sclerosis, susceptibility to 1 (MONDO:MONDO:0021571)", "pathway": " (hsa:100133941); (R-HSA-373760); (R-HSA-9927418); (R-HSA-9927426)", "pathway_count": 4, "publication_count": 42, "publication_id_list": "11237011;11313396;1327504;14657362;14978216;16000162;16344560;17074750;17411341;1831224;20112406;21152083;21960110;22926560;25576301;26444008;26811146;26992070;27893789;29393594;29557506;29632711;29741879;29786170;29789417;30459171;31154438;31217245;31844290;32938616;33936100;34087483;34360932;36010968;36215666;37938771;38561798;38801885;38849477;7736776;7959762;8753773", "class_list": "", "function": "Associations of stem cell markers CD44, CD24 and ALDH1A1 with mammographic breast density in women with benign breast biopsies., [RefSeq, PubMed]; CD24 promotes metastasis and chemoresistance by directly targeting Arf6-ERK pathway in esophageal squamous cell carcinoma., [RefSeq, PubMed]; May have a pivotal role in cell differentiation of different cell types. Signaling could be triggered by the binding of a lectin-like ligand to the CD24 carbohydrates, and transduced by the release of second messengers derived from the GPI-anchor. Modulates B-cell activation responses. Promotes AG-dependent proliferation of B-cells, and prevents their terminal differentiation into antibody-forming cells (PubMed:11313396). In association with SIGLEC10 may be involved in the selective suppression of the immune response to danger-associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90. Plays a role in the control of autoimmunity (By similarity)., [UniProtKB, UniProtKB, PubMed]; Our results establish a mechanistic linkage between 2 critically important molecules in cancer, identifying CD24 as a critical HIF-1alpha transcriptional target and biologic effector, [RefSeq, PubMed]; The safety and potential efficacy of exosomes overexpressing CD24 (EXO-CD24) in mild-moderate COVID-19 related ARDS. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a sialoglycoprotein that is expressed on mature granulocytes and B cells and modulates growth and differentiation signals to these cells. The precursor protein is cleaved to a short 32 amino acid mature peptide which is anchored via a glycosyl phosphatidylinositol (GPI) link to the cell surface. This gene was missing from previous genome assemblies, but is properly located on chromosome 6. Non-transcribed pseudogenes have been designated on chromosomes 1, 15, 20, and Y. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 8686, "biomarker_type": "", "glycan_count": 14, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WYI6;B6EC88;Q16257;Q53XS0;R4I4T5", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0030296 protein tyrosine kinase activator activity", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane;GO:0045121 membrane raft;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0016477 cell migration;GO:0001666 response to hypoxia;GO:0031295 T cell costimulation;GO:0022407 regulation of cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P25063-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.1100100010000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55209-1", "uniprot_id": [ { "id": "NP1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/P55209", "type": "external" } ], "mass": 45374.0, "length": 391, "protein_name": "Nucleosome assembly protein 1-like 1", "gene_name": "NAP1L1", "organism": "Human", "refseq_name": "nucleosome assembly protein 1-like 1 isoform 1", "refseq_ac": [ { "id": "NP_001317160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317160", "type": "external" } ], "gene_names_uniprotkb": "NAP1L1; NRP", "gene_names_refseq": "NAP1L1; NAP1L; NAP1; NRP", "protein_names_uniprotkb": "Nucleosome assembly protein 1-like 1; Histone H2A-H2B chaperone NAP1L1; NAP-1-related protein; hNRP", "protein_names_refseq": "HSP22-like protein interacting protein; NAP-1-related protein; histone H2A-H2B chaperone NAP1L1; nucleosome assembly protein 1-like 1 isoform 1", "tax_id": 9606, "disease": "appendiceal neoplasm (Disease Ontology:DOID:11240); pancreatic cancer (Disease Ontology:DOID:1793); hepatoblastoma (Disease Ontology:DOID:687)", "pathway": " (hsa:4673)", "pathway_count": 1, "publication_count": 144, "publication_id_list": "11237011;14654843;14966293;14978097;15308774;15345747;16565220;16964243;17081065;17081983;17287340;17924679;18226242;18292551;18452278;18669648;18991276;19415658;19608861;19651622;19664994;19664995;19690332;19748539;20002496;20068231;21211722;21406692;22617051;22645359;23186163;23481700;23691099;24029068;24714562;24715725;24798879;25418920;25502872;25576301;25810538;26024233;26154972;26375851;26728094;26811146;26841755;26853435;26992070;27599637;27600516;27846572;27862975;27920218;28218747;28228285;28352266;28369616;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29317506;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32373127;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35251023;35318648;35351053;35561310;35580925;36010968;36215666;36241641;36284347;36499021;36581221;37217939;37380014;37938771;38258494;38953887;39302247;40914422;8297347", "class_list": "", "function": "(Microbial infection) Positively regulates Epstein-Barr virus reactivation in epithelial cells through the induction of viral BZLF1 expression., [UniProtKB, PubMed]; (Microbial infection) Together with human herpesvirus 8 protein LANA1, assists the proper assembly of the nucleosome on the replicated viral DNA., [UniProtKB, PubMed]; A New Role of NAP1L1 in Megakaryocytes and Human Platelets. Publication Status: Online-Only, [RefSeq, PubMed]; Dynamic Solution Structures of Whole Human NAP1 Dimer Bound to One and Two Histone H2A-H2B Heterodimers Obtained by Integrative Methods., [RefSeq, PubMed]; Histone chaperone that plays a role in the nuclear import of H2A-H2B and nucleosome assembly (PubMed:20002496, PubMed:21211722, PubMed:26841755). Also participates in several important DNA repair mechanisms: greatly enhances ERCC6-mediated chromatin remodeling which is essential for transcription-coupled nucleotide excision DNA repair (PubMed:28369616). Also stimulates homologous recombination (HR) by RAD51 and RAD54 which is essential in mitotic DNA double strand break (DSB) repair (PubMed:24798879). Plays a key role in the regulation of embryonic neurogenesis (By similarity). Promotes the proliferation of neural progenitors and inhibits neuronal differentiation during cortical development (By similarity). Regulates neurogenesis via the modulation of RASSF10; regulates RASSF10 expression by promoting SETD1A-mediated H3K4 methylation at the RASSF10 promoter (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; NAP1L1 Promotes Endometrial Cancer Progression via EP300-Mediated DDX5 Promoter Acetylation., [RefSeq, PubMed]; NAP1L1 promotes tumor proliferation through HDGF/C-JUN signaling in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleosome assembly protein 1-like 1 (NAP1L1) in gastric cancer patients: a potential biomarker with diagnostic and prognostic utility., [RefSeq, PubMed]; These results suggest that the binding of sequence-specific DNA binding proteins to human nucleosome assembly protein 1 may be an important step contributing to the activation of transcription., [RefSeq, PubMed]; This gene encodes a member of the nucleosome assembly protein (NAP) family. This protein participates in DNA replication and may play a role in modulating chromatin formation and contribute to the regulation of cell proliferation. Alternative splicing results in multiple transcript variants encoding different isoforms; however, not all have been fully described. [provided by RefSeq, Apr 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KNT8;B3KV44", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0042393 histone binding;GO:0140713 histone chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0042470 melanosome;GO:0000785 chromatin", "go_biological_process": "GO:0007399 nervous system development;GO:0008284 positive regulation of cell population proliferation;GO:0006260 DNA replication;GO:0006334 nucleosome assembly;GO:2000179 positive regulation of neural precursor cell proliferation", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "P55209-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IY4-1", "uniprot_id": [ { "id": "CBPB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IY4", "type": "external" } ], "mass": 48424.0, "length": 423, "protein_name": "Carboxypeptidase B2", "gene_name": "CPB2", "organism": "Human", "refseq_name": "carboxypeptidase B2 isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001265470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265470", "type": "external" } ], "gene_names_uniprotkb": "CPB2", "gene_names_refseq": "CPB2; CPU; PCPB; TAFI", "protein_names_uniprotkb": "Carboxypeptidase B2; 3.4.17.20; CPU; Carboxypeptidase U; Plasma carboxypeptidase B; TAFI; Thrombin-activable fibrinolysis inhibitor; pCPB", "protein_names_refseq": "carboxypeptidase B-like protein; carboxypeptidase B2 (plasma); carboxypeptidase B2 (plasma, carboxypeptidase U); carboxypeptidase B2 isoform 2 preproprotein; carboxypeptidase R; thrombin-activable fibrinolysis inhibitor; thrombin-activatable fibrinolysis inhibitor", "tax_id": 9606, "disease": "nephrotic syndrome (Disease Ontology:DOID:1184); Behcet's disease (Disease Ontology:DOID:13241); thrombocytosis (Disease Ontology:DOID:2228); chronic kidney disease (Disease Ontology:DOID:784); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1361); (R-HSA-2022377); (R-HSA-977606)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10531307;10536878;10574983;1067618;10899625;10924499;10969042;11237011;11502696;11694537;11815627;11939578;12045255;12055245;12540854;12927775;1386357;14747736;15283675;16079145;16192651;16335952;16445295;1668266;16790432;16999828;17138938;17182573;17505110;17704566;1848554;1851160;18559974;19159218;1939207;19800993;20088943;20380117;20889553;21788512;22171320;22193701;2266130;22802338;23090970;23446738;23487775;24141856;2420889;2443571;2465906;2466593;2481448;2558510;2708524;27726376;2846041;293688;293746;29391424;29557506;2956252;29671580;2971659;29741879;301546;3017438;30237853;35051231;36835137;37074911;37978153;38025709;383475;3848661;38520679;38608056;4098172;4289389;4322712;4330891;4360430;6214588;6219696;6222381;6230668;6238120;6269175;6270633;6303766;6334079;6454142;6607952;670886;6807977;6906228;702059;7391570;7542572;760802;761607;7690834;7691959;7980644;8345200;8495193;8786315;9038722;9169443;9570564;978134", "class_list": "", "function": "A challenging issue in COVID-19 infection: The relationship between PA1-1 and TAFI levels in patients with coagulation disorder: A retrospective and observational study., [RefSeq, PubMed]; Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]., [RefSeq]; Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down-regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Plasma thrombin-activatable fibrinolysis inhibitor and the 1040C/T polymorphism are risk factors for diabetic kidney disease in Chinese patients with type 2 diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; ProCPU Is Expressed by (Primary) Human Monocytes and Macrophages and Expression Differs between States of Differentiation and Activation. Publication Status: Online-Only, [RefSeq, PubMed]; Serum Proteomics Identified TAFI as a Potential Molecule Facilitating the Migration of Peripheral Monocytes to Damaged White Matter During Chronic Cerebral Hypoperfusion., [RefSeq, PubMed]; Thrombin activatable fibrinolysis inhibitor plasma levels and TAFI Thr325Ile genetic polymorphism in a cohort of Egyptian sickle cell disease patients and impact on disease severity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 40, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K464;Q15114;Q5T9K1;Q5T9K2;Q9P2Y6", "ec_number_list": [ { "id": "3.4.17.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.2", "type": "external" }, { "id": "3.4.17.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.1", "type": "external" }, { "id": "3.4.17.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.3", "type": "external" }, { "id": "3.4.17.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.20", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation;GO:0042730 fibrinolysis", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q96IY4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6R9-1", "uniprot_id": [ { "id": "CCD61_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6R9", "type": "external" } ], "mass": 57368.0, "length": 512, "protein_name": "Centrosomal protein CCDC61", "gene_name": "CCDC61", "organism": "Human", "refseq_name": "centrosomal protein CCDC61", "refseq_ac": [ { "id": "NP_001254652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254652", "type": "external" } ], "gene_names_uniprotkb": "CCDC61", "gene_names_refseq": "CCDC61; VFL3; hVFL3", "protein_names_uniprotkb": "Centrosomal protein CCDC61; Coiled-coil domain-containing protein 61; VFL3 homolog", "protein_names_refseq": "VFL3 homolog; centrosomal protein CCDC61; coiled-coil domain-containing protein 61; variable flagellar number 3 homolog (C. reinhardtii)", "tax_id": 9606, "disease": "", "pathway": " (hsa:729440)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;17081983;19690332;19913121;20068231;20628086;21406692;23186163;23481700;24275569;25505266;26992070;27920218;28063628;28832583;29242379;29393594;29557506;29632046;29789417;30354798;30379171;31789463;31844290;32265295;32350084;32375023;32387766;33392160;33936100;34087483;34561969;35051231;37938771", "class_list": "", "function": "CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions., [RefSeq, PubMed]; Ccdc61 controls centrosomal localization of Cep170 and is required for spindle assembly and symmetry., [RefSeq, PubMed]; HVFL3/CCDC61 is the human orthologue of proteins required for anchoring distinct sets of cytoskeletal fibers to centrioles in unicellular eukaryotes., [RefSeq, PubMed]; Microtubule-binding centrosomal protein required for centriole cohesion, independently of the centrosome-associated protein/CEP250 and rootletin/CROCC linker (PubMed:31789463). In interphase, required for anchoring microtubule at the mother centriole subdistal appendages and for centrosome positioning (PubMed:31789463). During mitosis, may be involved in spindle assembly and chromatin alignment by regulating the organization of spindle microtubules into a symmetrical structure (PubMed:30354798). Has been proposed to play a role in CEP170 recruitment to centrosomes (PubMed:30354798). However, this function could not be confirmed (PubMed:31789463). Plays a non-essential role in ciliogenesis (PubMed:31789463, PubMed:32375023)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "C8CAP4;Q9HDB6", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005815 microtubule organizing center;GO:0034451 centriolar satellite;GO:0036064 ciliary basal body;GO:0120103 centriolar subdistal appendage", "go_biological_process": "GO:0090307 mitotic spindle assembly;GO:0030030 cell projection organization;GO:0098534 centriole assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9Y6R9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20591-1", "uniprot_id": [ { "id": "MX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P20591", "type": "external" } ], "mass": 75520.0, "length": 662, "protein_name": "Interferon-induced GTP-binding protein Mx1", "gene_name": "MX1", "organism": "Human", "refseq_name": "interferon-induced GTP-binding protein Mx1 isoform a", "refseq_ac": [ { "id": "NP_001138397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138397", "type": "external" } ], "gene_names_uniprotkb": "MX1", "gene_names_refseq": "IFI-78K; IFI78; MX1; MX; MxA; lncMX1-215", "protein_names_uniprotkb": "Interferon-induced GTP-binding protein Mx1; IFI-78K; Interferon-induced protein p78; Interferon-regulated resistance GTP-binding protein MxA; Myxoma resistance protein 1; Myxovirus resistance protein 1", "protein_names_refseq": "interferon-induced GTP-binding protein Mx1 isoform a; interferon-induced GTP-binding protein Mx1; interferon-induced protein p78; interferon-regulated resistance GTP-binding protein MxA; myxoma resistance protein 1; myxovirus (influenza virus) resistance 1, interferon-inducible protein p78", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease dominant intermediate B (Disease Ontology:DOID:0110197); centronuclear myopathy 1 (Disease Ontology:DOID:0111223); developmental and epileptic encephalopathy (Disease Ontology:DOID:0112202); prostate cancer (Disease Ontology:DOID:10283); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); microcytic anemia (Disease Ontology:DOID:11252); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); hereditary spastic paraplegia (Disease Ontology:DOID:2476); liver disease (Disease Ontology:DOID:409); avian influenza (Disease Ontology:DOID:4492); myocardial infarction (Disease Ontology:DOID:5844); alopecia areata (Disease Ontology:DOID:986)", "pathway": " (hsa:4599); (R-HSA-1169408); (R-HSA-909733)", "pathway_count": 3, "publication_count": 232, "publication_id_list": "10395669;10542297;10942113;10982844;11092454;11095724;11112487;11157743;11237011;11337497;11377645;11404376;11585831;11788588;11880649;12029096;12525615;12582176;12766484;12842042;14687945;14752052;14769151;15047845;15131269;15312780;15355513;15449939;15485925;15702989;15757897;15778442;16009940;16112642;16122702;16139798;16171819;16202617;16352599;16407192;16413306;16428300;16699525;16715065;16775314;16815975;16872604;16914094;16978069;16987978;17251292;17289916;1730654;17351669;17374778;17376915;17969444;18035202;18062906;18083107;18287095;18305167;18446792;18575461;18583345;18668195;18991276;19073728;19109387;19125153;19270716;20068231;20130243;20133869;20219937;20308324;20363976;20385878;20428112;20538602;20603636;20643137;21166595;21209280;2154602;2161946;21859714;21900240;21962493;21992152;2211721;22424782;22544926;22617051;22645359;23061660;23121362;23160781;23481700;23783831;24366607;24417533;24714562;24715725;2481229;25371710;25418920;25502872;25576301;25645385;25772364;25802875;25880248;25892735;26024233;2607176;26154972;26375851;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28218747;28228285;28446606;28467828;28489076;28514659;28649982;28832583;28834231;28855257;28871256;28904123;29242379;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30485383;30833945;31092671;31154438;31530632;31844290;31848261;31937595;31998317;32032529;32113509;32157095;32350084;32357974;32387766;32488085;32502341;32511913;32574262;32661006;32758689;32862111;32938616;32983136;33117408;33141586;33189161;33193462;33298915;33396578;33537174;33592498;33633747;33691108;33717175;33912179;33968037;34078123;34087483;34093574;34171305;34185709;34357683;34433824;34509645;34561969;34932366;35051231;35154160;35318648;35580925;36215666;36284347;36581221;37938771;38429664;38607029;6162102;6548414;688397;7510216;7526154;7537377;7540766;7559393;8197134;8232552;8411374;8605876;8621447;8702790;9060610;9096384;9121453;9242679;9334213;9525617;9660177;9847332;9861020;9933640", "class_list": "", "function": "Human MxA gene encodes two MxA isoforms, which are expressed differentially depending on whether the stimulus is IFN-alpha or HSV-1., [RefSeq, PubMed]; Interferon-induced dynamin-like GTPase with antiviral activity against a wide range of RNA viruses and some DNA viruses. Its target viruses include negative-stranded RNA viruses and HBV through binding and inactivation of their ribonucleocapsid. May also antagonize reoviridae and asfarviridae replication. Inhibits thogoto virus (THOV) replication by preventing the nuclear import of viral nucleocapsids. Inhibits La Crosse virus (LACV) replication by sequestering viral nucleoprotein in perinuclear complexes, preventing genome amplification, budding, and egress. Inhibits influenza A virus (IAV) replication by decreasing or delaying NP synthesis and by blocking endocytic traffic of incoming virus particles. Enhances ER stress-mediated cell death after influenza virus infection. May regulate the calcium channel activity of TRPCs., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Oral Antiviral Defense: Saliva- and Beverage-like Hypotonicity Dynamically Regulate Formation of Membraneless Biomolecular Condensates of Antiviral Human MxA in Oral Epithelial Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Our results suggest that MxA observed in respiratory viral infections is possibly dominated by the MxA transcript and partly influenced by relevant 5' SNPs., [RefSeq, PubMed]; Polymorphisms of IFN signaling genes and FOXP4 influence the severity of COVID-19. Publication Status: Online-Only, [RefSeq, PubMed]; The structural and functional data suggest that MxA targets the nucleoprotein of MxA-sensitive viruses. [Review] Review article, [RefSeq, PubMed]; This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that participates in the cellular antiviral response. The encoded protein is induced by type I and type II interferons and antagonizes the replication process of several different RNA and DNA viruses. There is a related gene located adjacent to this gene on chromosome 21, and there are multiple pseudogenes located in a cluster on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDA5;B3KU10;C9IYV7;C9J8D6;C9JN19;C9JN88;C9JUL1;C9JZS6;D3DSI8;Q86YP5;Q96CI3", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0008017 microtubule binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:0070106 interleukin-27-mediated signaling pathway;GO:0006952 defense response;GO:0007165 signal transduction;GO:0045087 innate immune response;GO:0051607 defense response to virus", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "P20591-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4V339-1", "uniprot_id": [ { "id": "ZNG1F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4V339", "type": "external" } ], "mass": 43964.0, "length": 395, "protein_name": "Zinc-regulated GTPase metalloprotein activator 1F", "gene_name": "CBWD5; ZNG1C; ZNG1E; ZNG1F", "organism": "Human", "refseq_name": "zinc-regulated GTPase metalloprotein activator 1F isoform 1", "refseq_ac": [ { "id": "NP_001078926", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078926", "type": "external" } ], "gene_names_uniprotkb": "CBWD5; ZNG1C; ZNG1E; ZNG1F; CBWD6; CBWD7; ZNG1C; ZNG1E; ZNG1F", "gene_names_refseq": "CBWD6; CBWD7; ZNG1F", "protein_names_uniprotkb": "Zinc-regulated GTPase metalloprotein activator 1F; 3.6.5.-; COBW domain-containing protein 6; Cobalamin synthase W domain-containing protein 6", "protein_names_refseq": "COBW domain containing 6; COBW domain containing 7; COBW domain-containing protein 6; cobalamin synthase W domain-containing protein 6; cobalamin synthetase W domain-containing protein 6; putative COBW domain-containing protein 7; putative cobalamin synthase W domain-containing protein 7; zinc-regulated GTPase metalloprotein activator 1F isoform 1; zinc-regulated GTPase metalloprotein activator 1F", "tax_id": 9606, "disease": "congenital anomalies of the kidney and urinary tract (Disease Ontology:DOID:0080205)", "pathway": " (hsa:644019)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;23301498;24366607;24715725;27600516;27846572;27920218;28218747;28228285;29437277;29493099;29557506;29786170;30524438;31844290;32357974;32387766;32488085;33981976;35584702", "class_list": "", "function": "Zinc chaperone that directly transfers zinc cofactor to target metalloproteins, thereby activating them (By similarity). Catalyzes zinc insertion into the active site of methionine aminopeptidase METAP1, which function to cleave the initiator methionine from polypeptides during or after protein translation (PubMed:35584702). Mechanistically, the N-terminal psi-PxLVp motif binds to the C6H2-type zinc finger of inactive form of METAP1 (By similarity). After formation of the docked complex, zinc is transferred from the CXCC motif in the GTPase domain of ZNG1F to the zinc binding site in the peptidase domain of METAP1 in a process requiring GTP hydrolysis (By similarity). GTP/GDP exchange is required for release of active METAP1 (By similarity)., [UniProtKB, UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0140827 zinc chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q4V339-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFR7-1", "uniprot_id": [ { "id": "CC148_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFR7", "type": "external" } ], "mass": 71076.0, "length": 591, "protein_name": "Coiled-coil domain-containing protein 148", "gene_name": "CCDC148", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 148 isoform 3", "refseq_ac": [ { "id": "NP_001288613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288613", "type": "external" } ], "gene_names_uniprotkb": "CCDC148", "gene_names_refseq": "CCDC148", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 148", "protein_names_refseq": "coiled-coil domain-containing protein 148 isoform 3; coiled-coil domain-containing protein 148", "tax_id": 9606, "disease": "", "pathway": " (hsa:130940)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;19401682;21297076;25418920;32488085;32938616;33912179;33968037;35051231;38359166;39894887", "class_list": "", "function": "Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms., [RefSeq, PubMed]; CCCDC148 is associated with acute lung injury in mice, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "F5H839;Q3B7I3;Q3B7I4;Q3KR41;Q4ZG12;Q4ZG23;Q53TM6;Q96BN5;Q96LM2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NFR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNH5-1", "uniprot_id": [ { "id": "CC14A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNH5", "type": "external" } ], "mass": 66574.0, "length": 594, "protein_name": "Dual specificity protein phosphatase CDC14A", "gene_name": "CDC14A", "organism": "Human", "refseq_name": "dual specificity protein phosphatase CDC14A isoform 4", "refseq_ac": [ { "id": "NP_001306139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306139", "type": "external" } ], "gene_names_uniprotkb": "CDC14A", "gene_names_refseq": "CDC14A; DFNB105; DFNB32; DFNB35; cdc14; hCDC14", "protein_names_uniprotkb": "Dual specificity protein phosphatase CDC14A; 3.1.3.16; 3.1.3.48; CDC14 cell division cycle 14 homolog A", "protein_names_refseq": "CDC10 (cell division cycle 10, S. cerevisiae, homolog); CDC14 cell division cycle 14 homolog A; dual specificity protein phosphatase CDC14A isoform 4; dual specificity protein phosphatase CDC14A", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 32 (Disease Ontology:DOID:0110491)", "pathway": " (hsa:8556); (R-HSA-176407); (R-HSA-5687128)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10409437;10470034;10793135;10975528;11237011;11584266;11598127;11804587;11901424;12134069;12546821;12808096;12915405;15226418;15263015;15538386;15577943;16360641;16371649;16959974;16971392;16973613;17161475;17254968;17395884;17488717;17728103;17947239;18031682;18162290;18235225;18248330;18593949;18644862;18720373;19166925;19390576;19473979;19513348;19593530;20236090;20536836;20543837;20734105;20849292;21177870;21317288;21329875;21329882;21372320;22084091;22267219;22279049;22505454;22508986;22800433;23069990;23186163;23878308;24309468;24585635;25339975;25576301;25880248;26154972;26375851;27259055;27846572;27862975;28832583;28904123;29242379;29293958;29493099;29557506;30089874;30315122;31154438;31844290;31848261;32157095;32231217;32357974;32372016;32387766;32502341;32938616;32983136;33090408;33328327;33592498;33912179;33968037;33981976;34509645;34932366;35051231;35580925;36241641;36284347;7559638;7799959;8107774;9367992;9535855;9628874;9747882", "class_list": "", "function": "Dual-specificity phosphatase. Required for centrosome separation and productive cytokinesis during cell division. Dephosphorylates SIRT2 around early anaphase. May dephosphorylate the APC subunit FZR1/CDH1, thereby promoting APC-FZR1 dependent degradation of mitotic cyclins and subsequent exit from mitosis. Required for normal hearing (PubMed:29293958)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Human Cdc14A phosphatase disrupts centrosome separation Erratum:[Nat Cell Biol. 2006 Aug;8(8):897], [RefSeq, PubMed]; Human cells lacking CDC14A and CDC14B show differences in ciliogenesis but not in mitotic progression. Publication Status: Online-Only, [RefSeq, PubMed]; The phosphorylation of hCDC14A modulated by ZIPK regulates autophagy of murine pancreatic islet beta-TC3 cells upon glucose stimulation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. It is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, suggesting a role in cell cycle control. This protein has been shown to interact with, and dephosphorylate tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in several transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]; UNC5B mediates G2/M phase arrest of bladder cancer cells by binding to CDC14A and P53. Erratum:[Cancer Gene Ther. 2022 Mar;29(3-4):398. doi: 10.1038/s41417-021-00394-6. PMID: 34671114], [RefSeq, PubMed]; When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6MA65;B1AQ14;B1AQ15;O43171;O60727;O60728;Q52LH9;Q8IXX0", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.21", "type": "external" }, { "id": "3.1.3.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.18", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0051301 cell division;GO:0060271 cilium assembly;GO:0007605 sensory perception of sound;GO:0000226 microtubule cytoskeleton organization;GO:0007096 regulation of exit from mitosis", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q9UNH5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SZL2-1", "uniprot_id": [ { "id": "CE85L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SZL2", "type": "external" } ], "mass": 91808.0, "length": 805, "protein_name": "Centrosomal protein of 85 kDa-like", "gene_name": "CEP85L", "organism": "Human", "refseq_name": "centrosomal protein of 85 kDa-like isoform a", "refseq_ac": [ { "id": "NP_001035940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035940", "type": "external" } ], "gene_names_uniprotkb": "CEP85L; C6orf204", "gene_names_refseq": "C6orf204; CEP85L; LIS10; NY-BR-15; bA57K17.2", "protein_names_uniprotkb": "Centrosomal protein of 85 kDa-like; Serologically defined breast cancer antigen NY-BR-15", "protein_names_refseq": "centrosomal protein 85 like; centrosomal protein 85kDa-like; centrosomal protein of 85 kDa-like isoform a; centrosomal protein of 85 kDa-like; serologically defined breast cancer antigen NY-BR-15", "tax_id": 9606, "disease": "lissencephaly 10 (Disease Ontology:DOID:0112229)", "pathway": " (hsa:387119)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;12747765;14654843;16959974;19584346;20639392;21399614;21938754;23186163;26992070;27846572;27920218;28228285;28832583;29242379;29393594;29786170;30315122;31844290;32097629;32097630;32157095;32357974;32488085;32983136;33079740;33298915;33592498;34185709;35051231;35580925;36010968;37217939;37621218", "class_list": "", "function": "Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature. Review article, [RefSeq, PubMed]; LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly., [RefSeq, PubMed]; Plays an essential role in neuronal cell migration., [UniProtKB, PubMed]; Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5., [RefSeq, PubMed]; The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1A4E1;A2A3P2;A2IDE5;F8W6J2;G3V0H3;Q2TAM2;Q5T323;Q7Z5K7;Q9H289", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0000242 pericentriolar material", "go_biological_process": "GO:0001764 neuron migration", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q5SZL2-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5U5Z8-1", "uniprot_id": [ { "id": "CBPC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5U5Z8", "type": "external" } ], "mass": 104194.0, "length": 902, "protein_name": "Cytosolic carboxypeptidase 2", "gene_name": "AGBL2", "organism": "Human", "refseq_name": "cytosolic carboxypeptidase 2", "refseq_ac": [ { "id": "NP_079059", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079059", "type": "external" } ], "gene_names_uniprotkb": "AGBL2; CCP2", "gene_names_refseq": "AGBL2; CCP2", "protein_names_uniprotkb": "Cytosolic carboxypeptidase 2; 3.4.17.-; ATP/GTP-binding protein-like 2; Protein deglutamylase CCP2", "protein_names_refseq": "ATP/GTP binding protein like 2; cytoplasmic carboxypeptidase 2; cytosolic carboxypeptidase 2; protein deglutamylase CCP2; testis tissue sperm-binding protein Li 96mP", "tax_id": 9606, "disease": "", "pathway": " (hsa:79841); (R-HSA-8955332)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "11237011;1520276;15890843;16901895;17244817;17244818;17360631;17499049;18331838;19524510;19531357;20519502;21074048;21303978;23085998;23358242;23481700;24884516;25103237;25468068;25916089;25957412;29126912;29146868;29557506;30379171;31844290;32307444;33091337;33717175;35051231;39894887;7452228", "class_list": "", "function": "Expression of RARRES1 and AGBL2 and progression of conventional renal cell carcinoma., [RefSeq, PubMed]; Findings suggest that ATP/GTP binding protein like 2 (AGBL2) plays a critical oncogenic role in the pathogenesis of hepatocellular carcinoma (HCC) through modulation on immunity-related GTPase family, M protein (IRGM)-regulated autophagy and aurora kinase A (Aurora A) activity. Erratum:[Cancer Lett. 2022 Jul 28;539:215700. doi: 10.1016/j.canlet.2022.215700. PMID: 35525812], [RefSeq, PubMed]; High AGBL2 expression is associated with breast cancer. Erratum:[World J Surg Oncol. 2025 May 14;23(1):191. doi: 10.1186/s12957-025-03831-0. PMID: 40369660] Publication Status: Online-Only, [RefSeq, PubMed]; Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK., [UniProtKB, UniProtKB]; RARRES1, its interacting partners AGBL2, Eg5/KIF11, another EEY-bearing protein (EB1), and the microtubule tyrosination cycle are important in tumorigenesis., [RefSeq, PubMed]; Suggest role for AGBL2 in cell proliferation and chemotherapy resistance in gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MPX2;Q53FV5;Q8IV57;Q9H5C0", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.4.17.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.-", "type": "external" }, { "id": "3.4.17.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.24", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity;GO:0015631 tubulin binding;GO:0008237 metallopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q5U5Z8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52757-1", "uniprot_id": [ { "id": "CHIO_HUMAN", "url": "https://www.uniprot.org/uniprot/P52757", "type": "external" } ], "mass": 53924.0, "length": 468, "protein_name": "Beta-chimaerin", "gene_name": "CHN2", "organism": "Human", "refseq_name": "beta-chimaerin isoform 1", "refseq_ac": [ { "id": "NP_001035025", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035025", "type": "external" } ], "gene_names_uniprotkb": "CHN2; ARHGAP3; BCH", "gene_names_refseq": "ARHGAP3; BCH; CHN2-3; CHN2; RHOGAP3", "protein_names_uniprotkb": "Beta-chimaerin; Beta-chimerin; Rho GTPase-activating protein 3", "protein_names_refseq": "beta-chimaerin isoform 1; beta-chimaerin; beta-chimerin; beta3-chimaerin; chimerin (chimaerin) 2; chimerin, beta-2; chimerin, testis-specific; rho-GTPase-activating protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:1124); (R-HSA-9013149)", "pathway_count": 2, "publication_count": 232, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10873802;10958683;11007481;11058585;11085924;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15302923;15339924;15342493;15485661;15507211;15579468;15601624;15611138;15728722;15850391;15858067;15897194;16002401;16112081;16116428;16184169;16243036;16473593;16492808;16507994;16519628;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17077126;17145773;17196961;17214551;17244649;17560670;17583407;17599059;17702745;17765681;17804252;17976533;18006505;18045877;18218625;18249095;18347018;18396277;18426980;18653540;18838382;19269969;19494238;19605563;19673492;19713215;19934221;20335173;20400958;20460433;20679435;20810653;21148482;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22970203;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23940355;24086303;24259668;24335996;24352656;24859002;24933155;24960694;25024229;25211221;25428919;25704760;25721503;25795300;25862245;25892735;26129894;26529257;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;28114311;28160556;28196833;29089502;29358323;29382922;29557506;30853411;31594917;31844290;31871319;32157095;32203420;32387766;33968037;34089273;34185709;35051231;35580925;37120575;7479768;7512369;7559638;7614486;7673236;7721814;7753201;7835339;8021274;8107774;8175705;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9792683;9822598;9843499;9988689", "class_list": "", "function": "Chemerin regulates formation and function of brown adipose tissue: Ablation results in increased insulin resistance with high fat challenge and aging., [RefSeq, PubMed]; GTPase-activating protein for p21-rac., [UniProtKB, UniProtKB, UniProtKB]; GTPase-activating protein for p21-rac. Insufficient expression of beta-2 chimaerin is expected to lead to higher Rac activity and could therefore play a role in the progression from low-grade to high-grade tumors., [UniProtKB]; Prenatal phthalate exposure and cord blood DNA methylation. Publication Status: Online-Only, [RefSeq, PubMed]; The findings indicate that differential methylation at CpG sites upstream of the CHN2 and JAK2 TSS regions are possible peripheral predictors of antidepressant treatment response. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]; This study shows that serum chemerin is an independent risk factor of prognosis of non-small cell lung cancer patients, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1A2;B3VCF1;B3VCF2;B3VCF3;B3VCF7;B3VCG1;C9J7B0;E9PGE0;F8QPL9;Q2M203;Q75MM2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 23.3, "record_id": "P52757-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43303-1", "uniprot_id": [ { "id": "CP110_HUMAN", "url": "https://www.uniprot.org/uniprot/O43303", "type": "external" } ], "mass": 113424.0, "length": 1012, "protein_name": "Centriolar coiled-coil protein of 110 kDa", "gene_name": "CCP110", "organism": "Human", "refseq_name": "centriolar coiled-coil protein of 110 kDa isoform 1", "refseq_ac": [ { "id": "NP_001185951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185951", "type": "external" } ], "gene_names_uniprotkb": "CCP110; CEP110; CP110; KIAA0419", "gene_names_refseq": "CCP110; CP110; Cep110", "protein_names_uniprotkb": "Centriolar coiled-coil protein of 110 kDa; CP110; Centrosomal protein of 110 kDa; Cep110", "protein_names_refseq": "centriolar coiled-coil protein 110kDa; centriolar coiled-coil protein of 110 kDa isoform 1; centriolar coiled-coil protein of 110 kDa; centrosomal protein CP110; centrosomal protein of 110 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:9738); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5689880); (R-HSA-8854518); (R-HSA-9013424)", "pathway_count": 10, "publication_count": 203, "publication_id_list": "10.1101/2023.09.13.557529;10444327;10982817;11076968;11237011;11566882;11923872;11956313;12207013;12221128;12361598;12364337;12852856;12917689;12917691;13678582;14521508;14580337;14654843;14661020;15053880;15498487;15705883;15916963;16214042;16357211;16462731;16760425;16890155;16901786;16964248;17290220;17355222;17443180;17574030;17646400;17681131;17719545;17873522;17980597;17981138;18037885;18172164;18378770;18467330;18477460;18521620;18566290;18615013;18632802;18636086;18694559;18801063;19004860;19015242;19081074;19135894;19188362;19363159;19398555;19424180;19460342;19838211;19874889;19910467;19940019;20096447;20228808;20230748;20308558;20368735;20399632;20501646;20558667;20596027;21239494;21273506;21347367;21362556;21422230;21548880;21565611;21571647;21596315;21620453;21659512;21725307;21792235;21849505;21962518;22029577;22085928;22094468;22128162;22179047;22216260;22261722;22339630;22365832;22433857;22441691;22641346;22653444;22885064;23141531;23141541;23159851;23186163;23253480;23348840;23395819;23400999;23481700;23486064;23530209;23747070;23769972;23789104;23824326;23825189;23921553;24053599;24056413;24089205;24231678;24260525;24421332;24469809;24493797;24714562;24896179;24982133;25047611;25197364;25305019;25313408;25418920;25532896;25576301;25578727;26304236;26728094;27846572;28228285;28242748;28562169;28649982;28657654;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29786170;30315122;30375385;30429286;30833945;31154438;31530632;31844290;31848261;31871319;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33402344;33691108;33912179;33936100;33968037;34171305;34259627;34509645;34932366;35051231;35301795;35494241;35580925;36010968;37074924;37226238;38415788;39302247;40136647;40307207;41350704;7578059;7769006;7790358;8838651;9778532", "class_list": "", "function": "CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; CP110, a cell cycle-dependent CDK substrate, regulates centrosome duplication (CP110), [RefSeq, PubMed]; EHD1 promotes CP110 ubiquitination by centriolar satellite delivery of HERC2 to the mother centriole., [RefSeq, PubMed]; Emerging insights into CP110 removal during early steps of ciliogenesis. Review article, [RefSeq, PubMed]; Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17681131, PubMed:17719545, PubMed:23486064, PubMed:30375385, PubMed:35301795). Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2 (PubMed:16760425)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B7WP23;O43335;Q68DV9;Q8NE13", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0032991 protein-containing complex", "go_biological_process": "GO:1902018 negative regulation of cilium assembly;GO:0051298 centrosome duplication;GO:0032465 regulation of cytokinesis;GO:0045724 positive regulation of cilium assembly;GO:0007099 centriole replication", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "O43303-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VT06-1", "uniprot_id": [ { "id": "CE350_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VT06", "type": "external" } ], "mass": 350930.0, "length": 3117, "protein_name": "Centrosome-associated protein 350", "gene_name": "CEP350", "organism": "Human", "refseq_name": "centrosome-associated protein 350", "refseq_ac": [ { "id": "NP_055625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055625", "type": "external" } ], "gene_names_uniprotkb": "CEP350; CAP350; GM133; KIAA0480", "gene_names_refseq": "CAP350; CEP350; GM133", "protein_names_uniprotkb": "Centrosome-associated protein 350; Centrosome-associated protein of 350 kDa; Cep350", "protein_names_refseq": "centrosomal protein 350kDa; centrosome-associated protein 350", "tax_id": 9606, "disease": "", "pathway": " (hsa:9857)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "11237011;11891061;14654843;15615782;16314388;16565220;17081983;17547437;17878239;18412956;18669648;19007248;19052644;19413330;19651622;20068231;23186163;23301498;24275569;24366607;24714562;25134987;25576301;25880248;26992070;27397612;27846572;27862975;28428259;28510447;28625565;28659385;28904123;29351928;29493099;29557506;30379171;30429286;30484775;30620550;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34259627;34561969;34932366;35051231;35494241;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "CAP350 interacts directly with FOP (FGFR1 oncogene partner) to form a centrosomal complex required for microtubule anchoring., [RefSeq, PubMed]; CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. Publication Status: Online-Only, [RefSeq, PubMed]; Plays an essential role in centriole growth by stabilizing a procentriolar seed composed of at least, SASS6 and CPAP (PubMed:19052644). Required for anchoring microtubules to the centrosomes and for the integrity of the microtubule network (PubMed:16314388, PubMed:17878239, PubMed:28659385). Recruits PPARA to discrete subcellular compartments and thereby modulates PPARA activity (PubMed:15615782). Required for ciliation (PubMed:28659385)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. The encoded protein directly interacts with another large centrosomal protein and is required to anchor microtubules at the centrosome. It is also implicated in the regulation of a class of nuclear hormone receptors in the nucleus. Several alternatively spliced transcript variants have been found, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 43, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O75068;Q8TDK3;Q8WY20", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0016020 membrane;GO:0005814 centriole", "go_biological_process": "GO:0071539 protein localization to centrosome;GO:0034453 microtubule anchoring;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q5VT06-1", "record_type": "protein", "filter_code": "0000000.1100101.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L0T0-1", "uniprot_id": [ { "id": "HACL2_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L0T0", "type": "external" } ], "mass": 67868.0, "length": 632, "protein_name": "2-hydroxyacyl-CoA lyase 2", "gene_name": "HACL2", "organism": "Human", "refseq_name": "2-hydroxyacyl-CoA lyase 2", "refseq_ac": [ { "id": "NP_006835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006835", "type": "external" } ], "gene_names_uniprotkb": "HACL2; AHAS; ILVBL", "gene_names_refseq": "209L8; AHAS; HACL1L; HACL2; ILV2H; ILVBL", "protein_names_uniprotkb": "2-hydroxyacyl-CoA lyase 2; 4.1.2.-; Acetolactate synthase-like protein; IlvB-like protein", "protein_names_refseq": "2-hydroxyacyl-CoA lyase 1 like; 2-hydroxyacyl-CoA lyase 2; acetolactate synthase homolog; acetolactate synthase-like protein; ilvB (bacterial acetolactate synthase)-like; ilvB acetolactate synthase like; ilvB-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10994)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;23481700;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26929215;26992070;27846572;27920218;28218747;28228285;28289220;28832583;28834231;28904123;29242379;29246216;29351928;29393594;29557506;29632046;29769354;29786170;30315122;30429286;30524438;31844290;32157095;32265295;32350084;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;35051231;35251023;35318648;36284347;38665916;40596516;8954801", "class_list": "", "function": "Endoplasmic reticulum 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner. Involved in the phytosphingosine degradation pathway., [UniProtKB, PubMed]; The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The highest degree of similarity is found with bacterial acetolactate synthases (AHAS), which are enzymes that catalyze the first step in branched-chain amino acid biosynthesis. [provided by RefSeq, Jul 2008]., [RefSeq]; To the best of our knowledge, this is the first report of an association between single nucleotide polymorphisms (SNPs) on ILVBL and aspirin-exacerbated respiratory disease (AERD) . SNPs on ILVBL could be promising genetic markers of this condition. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O43341;Q96F08;Q99651;Q9BWN5;Q9UEB2", "ec_number_list": [ { "id": "4.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.-", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0050660 flavin adenine dinucleotide binding;GO:0016829 lyase activity;GO:0030976 thiamine pyrophosphate binding;GO:0003984 acetolactate synthase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005948 acetolactate synthase complex", "go_biological_process": "GO:0001561 fatty acid alpha-oxidation;GO:0009099 L-valine biosynthetic process;GO:0009097 isoleucine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "A1L0T0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09693-1", "uniprot_id": [ { "id": "CD3G_HUMAN", "url": "https://www.uniprot.org/uniprot/P09693", "type": "external" } ], "mass": 20469.0, "length": 182, "protein_name": "T-cell surface glycoprotein CD3 gamma chain", "gene_name": "CD3G", "organism": "Human", "refseq_name": "T-cell surface glycoprotein CD3 gamma chain precursor", "refseq_ac": [ { "id": "NP_000064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000064", "type": "external" } ], "gene_names_uniprotkb": "CD3G; T3G", "gene_names_refseq": "CD3-GAMMA; CD3GAMMA; CD3G; IMD17; T3G", "protein_names_uniprotkb": "T-cell surface glycoprotein CD3 gamma chain; T-cell receptor T3 gamma chain", "protein_names_refseq": "CD3g antigen, gamma polypeptide (TiT3 complex); CD3g molecule, epsilon (CD3-TCR complex); CD3g molecule, gamma (CD3-TCR complex); T-cell antigen receptor complex, gamma subunit of T3; T-cell receptor T3 gamma chain; T-cell surface glycoprotein CD3 gamma chain precursor; T-cell surface glycoprotein CD3 gamma chain", "tax_id": 9606, "disease": "immunodeficiency 17 (Disease Ontology:DOID:0111973)", "pathway": " (hsa:917); (R-HSA-198933); (R-HSA-202424); (R-HSA-202427); (R-HSA-202430); (R-HSA-202433); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-389948); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9664323); (R-HSA-9664422)", "pathway_count": 14, "publication_count": 471, "publication_id_list": 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"class_list": "", "function": "Immune-Related Molecules CD3G and FERMT3: Novel Biomarkers Associated with Sepsis. Publication Status: Online-Only, [RefSeq, PubMed]; Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways. In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface. Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Protein level controlled by OTHER KINASES PROTEINS, [RefSeq, PubMed]; The protein encoded by this gene is the CD3-gamma polypeptide, which together with CD3-epsilon, -delta and -zeta, and the T-cell receptor alpha/beta and gamma/delta heterodimers, forms the T-cell receptor-CD3 complex. This complex plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. The genes encoding the epsilon, gamma and delta polypeptides are located in the same cluster on chromosome 11. Defects in this gene are associated with T cell immunodeficiency. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q2HIZ6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0042802 identical protein binding;GO:0042608 T cell receptor binding;GO:0030159 signaling receptor complex adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0042105 alpha-beta T cell receptor complex", "go_biological_process": "GO:0046631 alpha-beta T cell activation;GO:0007166 cell surface receptor signaling pathway;GO:0015031 protein transport;GO:0042110 T cell activation;GO:0050852 T cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 47.4, "record_id": "P09693-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41180-1", "uniprot_id": [ { "id": "CASR_HUMAN", "url": "https://www.uniprot.org/uniprot/P41180", "type": "external" } ], "mass": 120675.0, "length": 1078, "protein_name": "Extracellular calcium-sensing receptor", "gene_name": "CASR", "organism": "Human", "refseq_name": "extracellular calcium-sensing receptor isoform 1 precursor", "refseq_ac": [ { "id": "NP_001171536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171536", "type": "external" } ], "gene_names_uniprotkb": "CASR; GPRC2A; PCAR1", "gene_names_refseq": "CAR; CASR; EIG8; FHH; FIH; GPRC2A; HHC1; HHC; HYPOC1; NSHPT; PCAR1; hCasR", "protein_names_uniprotkb": "Extracellular calcium-sensing receptor; CaR; CaSR; PCaR1; Parathyroid cell calcium-sensing receptor 1; hCasR", "protein_names_refseq": "extracellular calcium-sensing receptor isoform 1 precursor; extracellular calcium-sensing receptor; parathyroid Ca(2+)-sensing receptor 1; parathyroid cell calcium-sensing receptor 1", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); familial hypocalciuric hypercalcemia (Disease Ontology:DOID:0060699); familial hypocalciuric hypercalcemia 1 (Disease Ontology:DOID:0060700); calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); autosomal dominant hypocalcemia 1 (Disease Ontology:DOID:0090107); autosomal dominant hypocalcemia (Disease Ontology:DOID:0090109); obsolete idiopathic generalized epilepsy 8 (Disease Ontology:DOID:0111322); intellectual disability (Disease Ontology:DOID:1059); secondary hyperparathyroidism (Disease Ontology:DOID:12466); hypercalcemia (Disease Ontology:DOID:12678); hyperparathyroidism (Disease Ontology:DOID:13543); atherosclerosis (Disease Ontology:DOID:1936); myocardial infarction (Disease Ontology:DOID:5844); nephrolithiasis (Disease Ontology:DOID:585); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); neonatal severe primary hyperparathyroidism (MONDO:MONDO:0009397)", "pathway": " (hsa:846); (R-HSA-416476); (R-HSA-418594); (R-HSA-420499)", "pathway_count": 4, "publication_count": 159, "publication_id_list": "10023897;10077597;10191087;10468915;10487661;10567430;10727532;10843194;10861009;11007482;11015615;11161843;11208605;11237011;11742120;11753430;11762699;11807402;11917125;12018449;12050233;12107202;12120503;12241879;12356761;12409307;12574188;12915654;1329206;14985373;15005845;15194188;15531522;15551332;15572418;15576628;15579740;15879434;15951850;16182515;16268778;16339447;16497624;16513638;16598859;16608894;16634148;16740594;16754659;16923326;17048213;17360426;17376781;17473068;17555508;17698911;18434541;18515384;18577758;18756473;18936096;18980667;1905813;19179454;19789209;20022913;20555319;20631026;20798521;20846291;20861236;21135065;21148030;21566075;21643651;22114145;22789683;23121374;23169696;23674604;23966241;24235081;24336654;25104082;25124570;25292184;2534964;25766501;26290606;26386835;27071541;27386547;27434672;2748346;27600516;27613866;27761213;2834384;2841328;29614098;29741879;3086311;32817431;32843625;33392160;33603117;34194040;34467854;34916296;35051231;37074911;37919470;38326620;38632411;38780484;38886300;39000274;39146692;39243411;39658204;7476890;7617140;7620613;7623957;7673400;7677761;7726161;7759551;7874174;7908515;7916660;7937899;8015379;8406495;8613532;8636323;8664309;8675635;8698326;8702647;8733126;8756555;8813042;8878438;8887960;9131252;9144337;9144651;9253358;9253359;9298824;9305846;9473604;9661634;9694886;9770463;9844003;9872316;9920108", "class_list": "", "function": "Analysis of Expression of the ANG1, CaSR and FAK Proteins in Uterine Fibroids. Publication Status: Online-Only, [RefSeq, PubMed]; Association of single nucleotide genetic polymorphisms of vitamin D receptor and calcium-sensitive receptor with calcium-containing kidney stones in Chinese Dai populations: a prospective multi-center study., [RefSeq, PubMed]; Calcium-sensing Receptor, a Potential Biomarker Revealed by Large-scale Public Databases and Experimental Verification in Metastatic Breast Cancer., [RefSeq, PubMed]; G protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis (PubMed:17555508, PubMed:19789209, PubMed:21566075, PubMed:22114145, PubMed:22789683, PubMed:23966241, PubMed:25104082, PubMed:25292184, PubMed:25766501, PubMed:26386835, PubMed:32817431, PubMed:33603117, PubMed:34194040, PubMed:34467854, PubMed:7759551, PubMed:8636323, PubMed:8702647, PubMed:8878438). Senses fluctuations in the circulating calcium concentration: activated by elevated circulating calcium, leading to decreased parathyroid hormone (PTH) secretion in parathyroid glands (By similarity). In kidneys, acts as a key regulator of renal tubular calcium resorption (By similarity). Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:38632411). CASR is coupled with different G(q)/G(11), G(i)/G(o)- or G(s)-classes of G proteins depending on the context (PubMed:38632411). In the parathyroid and kidney, CASR signals through G(q)/G(11) and G(i)/G(o) G proteins: G(q)/G(11) coupling activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers, while G(i)/G(o) coupling mediates inhibition of adenylate cyclase activity (PubMed:38632411, PubMed:7759551). The G protein-coupled receptor activity is activated by a co-agonist mechanism: aromatic amino acids, such as Trp or Phe, act concertedly with divalent cations, such as calcium or magnesium, to achieve full receptor activation (PubMed:27386547, PubMed:27434672, PubMed:32817431, PubMed:33603117, PubMed:34194040). Acts as an activator of the NLRP3 inflammasome via G(i)/G(o)-mediated signaling: down-regulation of cyclic AMP (cAMP) relieving NLRP3 inhibition by cAMP (PubMed:32843625). Acts as a regulator of proton-sensing receptor GPR68 in a seesaw manner: CASR-mediated signaling inhibits GPR68 signaling in response to extracellular calcium, while GPR68 inhibits CASR in presence of extracellular protons (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The calcium-sensing-receptor (CaSR) in adipocytes contributes to sex-differences in the susceptibility to high fat diet induced obesity and atherosclerosis., [RefSeq, PubMed]; The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]., [RefSeq]; [Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR]. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "reported_mutagensis": 66, "reported_glycation": 0, "reported_snv": 84, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 10, "disease_count": 17, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q13912;Q16108;Q16109;Q16110;Q16379;Q2M1T0;Q4PJ19", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0005178 integrin binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016323 basolateral plasma membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0002931 response to ischemia;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0008284 positive regulation of cell population proliferation;GO:0032024 positive regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P41180-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000100011001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUM4-1", "uniprot_id": [ { "id": "PDC6I_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUM4", "type": "external" } ], "mass": 96023.0, "length": 868, "protein_name": "Programmed cell death 6-interacting protein", "gene_name": "PDCD6IP", "organism": "Human", "refseq_name": "programmed cell death 6-interacting protein isoform 2", "refseq_ac": [ { "id": "NP_001155901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155901", "type": "external" } ], "gene_names_uniprotkb": "PDCD6IP; AIP1; ALIX; KIAA1375", "gene_names_refseq": "AIP1; ALIX; DRIP4; HP95; MCPH29; PDCD6IP", "protein_names_uniprotkb": "Programmed cell death 6-interacting protein; ALG-2-interacting protein 1; ALG-2-interacting protein X; Hp95; PDCD6-interacting protein", "protein_names_refseq": "ALG-2 interacting protein 1; ALG-2-interacting protein X; PDCD6-interacting protein; apoptosis-linked gene 2-interacting protein X; dopamine receptor interacting protein 4; programmed cell death 6-interacting protein isoform 2", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 29 (Disease Ontology:DOID:0051040)", "pathway": " (hsa:10015); (R-HSA-162588); (R-HSA-5210891); (R-HSA-5213460); (R-HSA-5675482); (R-HSA-9918481)", "pathway_count": 6, "publication_count": 210, "publication_id_list": "10.1101/2023.09.13.557529;11104681;11237011;11683497;11747608;12860994;1438214;14505569;14505570;14519844;14583093;14678797;14739459;14762106;15084397;15337774;15473846;15557335;15596135;15849434;15908698;16282325;1644824;16957052;17074750;17081065;17234158;17277784;17350572;17428861;17556548;17644308;17853893;18066081;18256029;18511562;18570872;18641129;18669648;18940611;18948538;19520058;19524512;19524513;19527882;19608861;19906316;20068231;20494825;2114169;21191027;21737330;21911577;22073189;22162750;22223895;22265413;22421439;22424782;22544926;22660413;22762019;22817896;23186163;23266279;23301498;23305486;23481700;24059293;24129315;24316671;24703947;24714562;24715725;24813885;25418920;25502872;25576301;25645385;25686249;25786915;25810538;25852146;25892735;25974265;25996294;26092250;26154972;26375851;26728094;26768311;26775703;26866270;26900751;26933192;26992070;27090790;27108190;27397612;27452731;27600516;27655845;27846572;27862975;27920218;28228285;28446606;28514659;28661484;28832583;28834231;28855257;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632711;29681455;29769354;29786170;29789417;29883609;29883610;29902443;29930286;30315122;30379171;30397120;30429286;30484775;30524438;30599162;30770249;30779550;31031142;31092671;31138766;31217245;31358971;31373491;31844290;32119511;32157095;32269263;32286682;32350084;32357974;32387766;32488085;32502341;32561730;32870666;32897882;32938616;32983136;33141586;33177556;33214551;33298915;33392160;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34357683;34433824;34509645;34561969;34725712;34932366;34999730;35051231;35132862;35138101;35215846;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37925421;37938771;38403678;38665916;39259704;39302247;39534244;40596516;40914422;6328915;7854123;8051159;9563949;9703991", "class_list": "", "function": "(Microbial infection) Involved in HIV-1 virus budding. Can replace TSG101 it its role of supporting HIV-1 release; this function requires the interaction with CHMP4B. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as enveloped virus budding (HIV-1 and other lentiviruses)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Multifunctional protein involved in endocytosis, multivesicular body biogenesis, membrane repair, cytokinesis, apoptosis and maintenance of tight junction integrity. Class E VPS protein involved in concentration and sorting of cargo proteins of the multivesicular body (MVB) for incorporation into intralumenal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome. Binds to the phospholipid lysobisphosphatidic acid (LBPA) which is abundant in MVBs internal membranes. The MVB pathway requires the sequential function of ESCRT-O, -I,-II and -III complexes (PubMed:14739459). The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis (PubMed:17556548, PubMed:17853893). Adapter for a subset of ESCRT-III proteins, such as CHMP4, to function at distinct membranes. Required for completion of cytokinesis (PubMed:17556548, PubMed:17853893, PubMed:18641129). May play a role in the regulation of both apoptosis and cell proliferation. Regulates exosome biogenesis in concert with SDC1/4 and SDCBP (PubMed:22660413). By interacting with F-actin, PARD3 and TJP1 secures the proper assembly and positioning of actomyosin-tight junction complex at the apical sides of adjacent epithelial cells that defines a spatial membrane domain essential for the maintenance of epithelial cell polarity and barrier (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; NEDD4 family ubiquitin ligase AIP4 interacts with Alix to enable HBV naked capsid egress in an Alix ubiquitination-independent manner. Publication Status: Online-Only, [RefSeq, PubMed]; Palmitoylation of vacuole membrane protein 1 promotes small extracellular vesicle secretion via interaction with ALIX and influences intercellular communication. Publication Status: Online-Only, [RefSeq, PubMed]; SUMOylation-triggered ALIX activation modulates extracellular vesicles circTLCD4-RWDD3 to promote lymphatic metastasis of non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 31, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "C5MQH7;E9PFU1;Q6NUS1;Q9BX86;Q9NUN0;Q9P2H2;Q9UKL5", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0031871 proteinase activated receptor binding", "go_cellular_component": "GO:0005768 endosome;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005923 bicellular tight junction;GO:0005925 focal adhesion", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex;GO:0090559 regulation of membrane permeability;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "Q8WUM4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14839-1", "uniprot_id": [ { "id": "CHD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14839", "type": "external" } ], "mass": 218005.0, "length": 1912, "protein_name": "ATP-dependent chromatin remodeler CHD4", "gene_name": "CHD4", "organism": "Human", "refseq_name": "ATP-dependent chromatin remodeler CHD4 isoform 1", "refseq_ac": [ { "id": "NP_001264", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264", "type": "external" } ], "gene_names_uniprotkb": "CHD4", "gene_names_refseq": "CHD-4; CHD4; Mi-2b; Mi2-BETA; SIHIWES", "protein_names_uniprotkb": "ATP-dependent chromatin remodeler CHD4; 3.6.4.-; CHD-4; Chromo domain-containing protein 4; Mi-2 autoantigen 218 kDa protein; Mi2-beta", "protein_names_refseq": "ATP-dependent chromatin remodeler CHD4 isoform 1; ATP-dependent chromatin remodeler CHD4; ATP-dependent helicase CHD4; Mi-2 autoantigen 218 kDa protein; chromo domain-containing protein 4", "tax_id": 9606, "disease": "lymphoma (Disease Ontology:DOID:0060058); left ventricular noncompaction (Disease Ontology:DOID:0060480); Sifrim-Hitz-Weiss syndrome (Disease Ontology:DOID:0070529); lung cancer (Disease Ontology:DOID:1324); rectum cancer (Disease Ontology:DOID:1993); colon adenocarcinoma (Disease Ontology:DOID:234); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:1108); (R-HSA-3214815); (R-HSA-427389); (R-HSA-6804758); (R-HSA-73762); (R-HSA-8943724); (R-HSA-9031628); (R-HSA-9679191); (R-HSA-9843940); (R-HSA-9844594); (R-HSA-9845323); (R-HSA-9937850); (R-HSA-9940465); (R-HSA-9940951); (R-HSA-9976102)", "pathway_count": 15, "publication_count": 425, "publication_id_list": "10.1101/2023.09.13.557529;10082553;10087012;10203854;10204490;10330177;10381005;10444591;10449787;10545197;10611221;10611312;10656257;10734128;10748112;10826704;10872467;10882540;10904264;10913176;10922406;10926844;10970879;10978333;10984481;11018254;11027551;11099047;11237011;11242053;11250901;11280768;11331872;11343657;11378386;11509652;11545734;11567222;11739383;11742974;11755530;11781575;11840323;11909966;11956230;11959841;11959846;12032298;12183469;12198550;12393749;12399542;12419226;12504854;12511643;12724404;12842043;12869583;1377233;14522948;14530259;14536086;14597720;14969744;15102911;15161978;15302935;15449318;15454082;15456747;1547496;15516265;15542842;15620361;15643425;15701600;1570299;15733869;15836632;15880109;15882967;15944288;16034366;16115318;16136673;16186106;16187211;16221685;16260776;16287845;16339507;16407550;16415179;16418168;16428440;16484497;16522641;16567619;16574654;16676006;16702404;16707490;16732277;16839880;16954381;17081983;17088210;17088211;17088212;17211407;17318177;17525332;17626165;17632064;17646674;17662961;17873065;17898216;17974977;18056528;18077418;18082607;18088355;18160048;18172008;1833716;18391013;18452278;18456662;18487508;18524893;18571423;1861162;18656484;18669648;18767875;18794358;19007248;19061646;19116276;19193899;19194657;19413330;19415658;19440552;19608861;19644445;19651622;19664994;19664995;19690332;19884659;19926875;20058876;20068230;20068231;2017159;20223979;20228809;20233713;2028256;2040600;20506119;20516213;2052361;20523938;20660729;2072895;21057636;2109185;21219611;21289308;21326363;21406692;21486943;21490301;21555454;21587264;21621608;21872626;22053691;22065583;22128185;22302795;2237820;22398447;22401777;22552008;22645359;22684280;22814904;23149945;23186163;23239876;23287862;23301498;23361464;23431171;23481700;23641311;24060757;24252660;24272870;24275569;24307175;24366607;24385926;24531329;24554700;24584101;24714562;24715725;24718924;24920672;25114211;25150861;25218447;25248477;25274305;25418920;25502872;25569790;25576301;25593309;25645385;25728608;25748042;25753662;25755297;25772364;25801024;25880248;25892735;26002965;26018600;26024233;26101246;26154972;26375851;26728094;2676516;26811146;26813693;26910647;26929215;26992070;27041596;27128622;27220739;27231347;27418187;27418309;27479907;27543614;27600516;27616479;27633282;27732854;27779108;27806305;27846572;27920218;2805069;28063628;28076410;28218747;28228285;28273063;28275114;28286024;28425720;28510447;28514659;28533432;28649982;28832583;28834231;28904123;28977666;29042441;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29559111;29567837;29632046;29632711;29643231;29769354;29786170;29789417;29795351;29945920;30045876;30122475;30134174;30201761;30228260;30315122;30327463;30410026;30484775;30833945;30980593;31020640;31048504;31217245;31222486;3127059;31289231;31427381;31530632;31746185;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32522876;32543371;32897882;32938616;32983136;33123756;33141586;33214551;33264408;33283408;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34093574;34171305;34211107;34229054;34357683;34509645;34561969;34725712;34932366;35051231;35318648;35561310;35580925;36008597;36010968;36064715;36215666;36241641;36284347;3672127;37217939;37340703;37938771;38359823;38665916;38761648;39127769;39362776;40596516;7491500;7513682;7551568;7575689;7592934;7595538;7608156;7624335;7777577;7801123;7823924;7857651;7871435;7876254;7923378;7969165;8090221;8090222;8248782;8413279;8483478;8576248;8583621;8668170;8756618;8769649;8846918;8918830;9016654;9032251;9084409;9150135;9343422;9390517;9418898;9427644;9512513;9622090;9651585;9722618;9770464;9774344;9790534;9804427;9808461;9822744;9858769;9885572", "class_list": "", "function": "ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA (PubMed:28977666, PubMed:32543371). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:17626165, PubMed:28977666, PubMed:9804427). Localizes to acetylated damaged chromatin in a ZMYND8-dependent manner, to promote transcriptional repression and double-strand break repair by homologous recombination (PubMed:25593309). Involved in neurogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ATP-dependent chromatin-remodeling factor that binds and distorts nucleosomal DNA. Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin. Localizes to acetylated damaged chromatin in a ZMYND8-dependent manner, to promote transcriptional repression and double-strand break repair by homologous recombination. Involved in neurogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; CHD4 R975H mutant activates tumorigenic pathways and promotes stemness and M2-like macrophage polarization in endometrial cancer. Publication Status: Online-Only, [RefSeq, PubMed]; FOXM1 and CHD4 expression is associated with chemoresistance in hepatoblastoma., [RefSeq, PubMed]; NEAT1 promotes genome stability via m[6]A methylation-dependent regulation of CHD4. Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene belongs to the SNF2/RAD54 helicase family. It represents the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Patients with dermatomyositis develop antibodies against this protein. Somatic mutations in this gene are associated with serous endometrial tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 0, "predicted_o_glycosites": 5, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 51, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 70, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q8IXZ5", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.65", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.65", "type": "external" }, { "id": "1.14.99.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.66", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.1.3.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.11", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.1.3.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.9", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.1.1.356", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.356", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" }, { "id": "2.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.37", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0016020 membrane", "go_biological_process": "GO:0072553 terminal button organization;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 43.0, "record_id": "Q14839-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13418-1", "uniprot_id": [ { "id": "ILK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13418", "type": "external" } ], "mass": 51419.0, "length": 452, "protein_name": "Scaffold protein ILK", "gene_name": "ILK", "organism": "Human", "refseq_name": "scaffold protein ILK isoform 1", "refseq_ac": [ { "id": "NP_001014794", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014794", "type": "external" } ], "gene_names_uniprotkb": "ILK; ILK1; ILK2", "gene_names_refseq": "HEL-S-28; ILK-1; ILK-2; ILK; P59; p59ILK", "protein_names_uniprotkb": "Scaffold protein ILK; ILK-1; ILK-2; Inactive integrin-linked kinase; p59ILK", "protein_names_refseq": "59 kDa serine/threonine-protein kinase; beta-integrin-linked kinase; epididymis secretory protein Li 28; inactive integrin-linked kinase; integrin-linked kinase-2; integrin-linked protein kinase; scaffold protein ILK isoform 1; scaffold protein ILK", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); dilated cardiomyopathy (Disease Ontology:DOID:12930); pancreatic cancer (Disease Ontology:DOID:1793); ovarian cancer (Disease Ontology:DOID:2394); prostate adenocarcinoma (Disease Ontology:DOID:2526)", "pathway": " (hsa:3611); (R-HSA-446343); (R-HSA-446353)", "pathway_count": 3, "publication_count": 119, "publication_id_list": "10712922;10871859;11237011;11313365;11331308;11402068;12167643;12432066;12679033;15284246;15817463;16517730;16531412;17420447;17646580;18283114;18508764;18940607;19074270;19117955;19118217;20005845;20112406;20117114;21406692;21524996;22223895;22521536;23481700;24590809;24714562;24715725;25418920;25576301;25645385;26154972;26728094;26768311;26811146;26929215;26992070;27391337;27543614;27600516;27824126;27846572;27920218;27926483;27982018;28063628;28228285;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30367047;30429286;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32260415;32350084;32387766;32439895;32488085;32502341;32528174;32897882;32938616;32983136;33043033;33298915;33592498;33691108;33717175;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35251023;35259013;35318648;35561310;35580925;36010968;36284347;37938771;38077324;38165590;38665916;38734696;8538749;9736715", "class_list": "", "function": "Inhibition of Integrin-Associated Kinases FAK and ILK on the In Vitro Model of Skin Wound Healing., [RefSeq, PubMed]; Integrin-linked kinase expression in myeloid cells promotes colon tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Integrin-linked kinase mRNA expression in circulating mononuclear cells as a biomarker of kidney and vascular damage in experimental chronic kidney disease. Publication Status: Online-Only, [RefSeq, PubMed]; Scaffold protein which mediates protein-protein interactions during a range of cellular events including focal adhesion assembly, cell adhesion and cell migration (PubMed:17420447, PubMed:20005845, PubMed:30367047, PubMed:32528174). Regulates integrin-mediated signal transduction by contributing to inside-out integrin activation (By similarity). Recruits PARVA and LIMS1/PITCH to form the heterotrimeric IPP (ILK-PINCH-PARVIN) complex which binds to F-actin via the C-terminal tail of LIMS1 and the N-terminal region of PARVA, promoting F-actin filament bundling, a process required to generate force for actin cytoskeleton reorganization and subsequent dynamic cell adhesion events such as cell spreading and migration (PubMed:30367047). Binding to PARVA promotes effective assembly of ILK into focal adhesions while PARVA-bound ILK can simultaneously engage integrin-beta cytoplasmic tails to mediate cell adhesion (PubMed:20005845). Plays a role with PARVG in promoting the cell adhesion and spreading of leukocytes (PubMed:16517730). Acts as an upstream effector of both AKT1/PKB and GSK3 (PubMed:9736715). Mediates trafficking of caveolae to the cell surface in an ITGB1-dependent manner by promoting the recruitment of IQGAP1 to the cell cortex which cooperates with its effector DIAPH1 to locally stabilize microtubules and allow stable insertion of caveolae into the plasma membrane (By similarity). Required for the maintenance of mitotic spindle integrity by promoting phosphorylation of TACC3 by AURKA (PubMed:18283114). Associates with chromatin and may act as a negative regulator of transcription when located in the nucleus (PubMed:17420447)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z1I0;B7Z418;D3DQU0;P57043;Q68DZ3", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004672 protein kinase activity;GO:0005102 signaling receptor binding;GO:0005178 integrin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0072697 protein localization to cell cortex;GO:0007229 integrin-mediated signaling pathway;GO:0030154 cell differentiation;GO:0000902 cell morphogenesis;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q13418-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13568-1", "uniprot_id": [ { "id": "IRF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13568", "type": "external" } ], "mass": 56044.0, "length": 498, "protein_name": "Interferon regulatory factor 5", "gene_name": "IRF5", "organism": "Human", "refseq_name": "interferon regulatory factor 5 isoform b", "refseq_ac": [ { "id": "NP_001092097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092097", "type": "external" } ], "gene_names_uniprotkb": "IRF5", "gene_names_refseq": "IRF5; SLEB10", "protein_names_uniprotkb": "Interferon regulatory factor 5; IRF-5", "protein_names_refseq": "interferon regulatory factor 5 isoform b", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatohepatitis (Disease Ontology:DOID:0080547); inflammatory bowel disease 14 (Disease Ontology:DOID:0110895); obstructive jaundice (Disease Ontology:DOID:13603); hepatitis C (Disease Ontology:DOID:1883); multiple sclerosis (Disease Ontology:DOID:2377); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); pneumonia (Disease Ontology:DOID:552); rheumatoid arthritis (Disease Ontology:DOID:7148); herpes simplex (Disease Ontology:DOID:8566); systemic lupus erythematosus (Disease Ontology:DOID:9074); systemic lupus erythematosus, susceptibility to, 10 (MONDO:MONDO:0012834)", "pathway": " (hsa:3663); (R-HSA-877300); (R-HSA-909733); (R-HSA-9860276)", "pathway_count": 4, "publication_count": 162, "publication_id_list": "10067896;10395669;10542297;10982844;10986460;11092454;11237011;11303025;11337497;11377645;11404376;11585831;11972023;12029096;12040185;12138184;12438563;12446674;12766484;12842042;12915721;1396683;14586410;14722222;14769151;15047845;1508672;15143187;15312780;15322115;15388922;15449939;15530433;15556946;15657875;15695821;15778442;15805103;16009940;16171819;16237089;16467876;16642019;16987978;17125875;17251292;1730654;17351669;17599733;17881657;17969444;18035202;18362138;18575461;18591661;18824541;18836453;20049711;20130243;20304997;20363976;20643137;2211721;22412986;23061660;23121362;24366607;24417533;25326418;25326420;25371710;25392335;25418920;26154972;26453465;26992070;27356622;27846572;27920218;28063628;28218747;28228285;28832583;29242379;29437277;29519720;29632046;29731959;29786170;30485383;31024565;31530632;31844290;31848261;32032529;32113509;32357974;32387766;32433612;32494619;32511913;32574262;32661006;32743529;32758689;32862111;32983136;33117408;33141586;33189161;33193462;33239784;33298915;33396578;33440148;33633747;34509645;34932366;35051231;37863913;38034802;38175709;38451436;38745265;38969706;39271190;40639948;6162102;6548414;688397;7510216;7514165;7526154;7530745;7537377;7540766;7615558;7617032;7657660;7673114;7690989;7796299;8156998;8176225;8197134;8232552;8483949;8530158;8550631;8605876;8621447;8631301;8702790;9096384;9111318;9121453;9143706;9242679;9334213;9660177;9847332;9861020", "class_list": "", "function": "IRF5 Variants Are Risk Factors for Systemic Lupus Erythematosus in Two Mexican Populations., [RefSeq, PubMed]; IRF5 governs macrophage adventitial infiltration to fuel abdominal aortic aneurysm formation. Publication Status: Online-Only, [RefSeq, PubMed]; IRF5 suppresses metastasis through the regulation of tumor-derived extracellular vesicles and pre-metastatic niche formation. Publication Status: Online-Only, [RefSeq, PubMed]; Interferon Regulatory Factor 5 Gene Polymorphisms and mRNA Expression Levels Are Associated with Neuromyelitis Optica Spectrum Disorder., [RefSeq, PubMed]; M6A-induced transcription factor IRF5 contributes to the progression of cervical cancer by upregulating PPP6C., [RefSeq, PubMed]; This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune system activity. Members of the IRF family are characterized by a conserved N-terminal DNA-binding domain containing tryptophan (W) repeats. Alternative promoter use and alternative splicing result in multiple transcript variants, and a 30-nt indel polymorphism (SNP rs60344245) can result in loss of a 10-aa segment. [provided by RefSeq, Dec 2016]., [RefSeq]; This study defines the regulatory phosphorylation sites that control the activity of IRF-5 in Newcastle disease virus-infected cells and provides further insight into its structure and function, [RefSeq, PubMed]; Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9 (PubMed:11303025, PubMed:15695821, PubMed:22412986, PubMed:25326418, PubMed:32433612, PubMed:40639948). Regulates the transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (By similarity). Can efficiently activate both the IFN-beta (IFNB) and the IFN-alpha (IFNA) genes and mediate their induction downstream of the TLR-activated, MyD88-dependent pathway (By similarity). Key transcription factor regulating the IFN response during SARS-CoV-2 infection (PubMed:33440148)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A4D1J8;A8DUA8;A8DUA9;E7EQ16;E7EW54;Q1A7B4;Q64GA9;Q64GB1;Q64GB2;Q6RCM8;Q9BQF0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000785 chromatin", "go_biological_process": "GO:0070431 nucleotide-binding oligomerization domain containing 2 signaling pathway;GO:0032727 positive regulation of interferon-alpha production;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q13568-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQM4-1", "uniprot_id": [ { "id": "DAAF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQM4", "type": "external" } ], "mass": 24069.0, "length": 214, "protein_name": "Dynein axonemal assembly factor 6", "gene_name": "DNAAF6", "organism": "Human", "refseq_name": "dynein axonemal assembly factor 6", "refseq_ac": [ { "id": "NP_001162625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162625", "type": "external" } ], "gene_names_uniprotkb": "DNAAF6; CXorf41; PIH1D3", "gene_names_refseq": "CILD36; CXorf41; DNAAF6; NYSAR97; PIH1D3; TWISTER", "protein_names_uniprotkb": "Dynein axonemal assembly factor 6; PIH1 domain-containing protein 3; Sarcoma antigen NY-SAR-97", "protein_names_refseq": "PIH1 domain containing 3; PIH1 domain-containing protein 3; dynein assembly factor 6, axonemal; dynein axonemal assembly factor 6; protein PIH1D3; sarcoma antigen NY-SAR-97", "tax_id": 9606, "disease": "primary ciliary dyskinesia 36 (Disease Ontology:DOID:0111850); primary ciliary dyskinesia (Disease Ontology:DOID:9562)", "pathway": " (hsa:139212)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12601173;23481700;28041644;28176794;32820521;33106461;34145793;38408845", "class_list": "", "function": "Methylation of three genes encoded by X chromosome in blood leukocytes and colorectal cancer risk., [RefSeq, PubMed]; Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects, [RefSeq, PubMed]; Novel deletion mutations of the PIH1D3 gene in an infertile young man with primary ciliary dyskinesia and his cousin with Kartagener's syndrome., [RefSeq, PubMed]; Plays a role in cytoplasmic pre-assembly of axonemal dynein., [UniProtKB, PubMed, PubMed]; Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia. Publication Status: Online-Only, [RefSeq, PubMed]; Study propose that PIH1D3 is part of a complementary conserved R2TP-like HSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins. Publication Status: Online-Only, [RefSeq, PubMed]; [Analysis of PIH1D3 variant in a Chinese pedigree affected with primary ciliary dyskinesia]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DUX5;Q86WE1", "ec_number_list": [], "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0045505 dynein intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement;GO:0036158 outer dynein arm assembly;GO:0036159 inner dynein arm assembly;GO:0070286 axonemal dynein complex assembly", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9NQM4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL42-1", "uniprot_id": [ { "id": "PNMA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL42", "type": "external" } ], "mass": 41509.0, "length": 364, "protein_name": "Paraneoplastic antigen Ma2", "gene_name": "PNMA2", "organism": "Human", "refseq_name": "paraneoplastic antigen Ma2", "refseq_ac": [ { "id": "NP_009188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009188", "type": "external" } ], "gene_names_uniprotkb": "PNMA2; KIAA0883; MA2", "gene_names_refseq": "MA2; MM2; PNMA2; RGAG2", "protein_names_uniprotkb": "Paraneoplastic antigen Ma2; 40 kDa neuronal protein; Onconeuronal antigen Ma2; Paraneoplastic neuronal antigen MM2", "protein_names_refseq": "40 kDa neuronal protein; onconeuronal antigen MA2; paraneoplastic Ma antigen 2; paraneoplastic antigen Ma2; paraneoplastic neuronal antigen MM2; retrotransposon gag domain containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10687)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10050892;10362822;11558790;19366867;25576301;25645385;26992070;28834231;29493099;29557506;30078552;30429286;30833945;31154438;31844290;31848261;32928873;32938616;33592498;33968037;34171305;35051231;35580925;37938771;38437549", "class_list": "", "function": "Human paraneoplastic antigen Ma2 (PNMA2) forms icosahedral capsids that can be engineered for mRNA delivery., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KNY9;O94959;O95145;Q49A18;Q9UL43", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9UL42-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12772-1", "uniprot_id": [ { "id": "SRBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12772", "type": "external" } ], "mass": 123688.0, "length": 1141, "protein_name": "Sterol regulatory element-binding protein 2", "gene_name": "SREBF2", "organism": "Human", "refseq_name": "sterol regulatory element-binding protein 2", "refseq_ac": [ { "id": "NP_004590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004590", "type": "external" } ], "gene_names_uniprotkb": "SREBF2; BHLHD2; SREBP2", "gene_names_refseq": "SREBF2; SREBP-2; SREBP2; bHLHd2", "protein_names_uniprotkb": "Sterol regulatory element-binding protein 2; Class D basic helix-loop-helix protein 2; SREBP-2; Sterol regulatory element-binding transcription factor 2; Transcription factor SREBF2; bHLHd2", "protein_names_refseq": "class D basic helix-loop-helix protein 2; sterol regulatory element-binding protein 2", "tax_id": 9606, "disease": "metabolic dysfunction and alcohol associated liver disease (Disease Ontology:DOID:0070508); heart conduction disease (Disease Ontology:DOID:10273); prostate cancer (Disease Ontology:DOID:10283); sarcoma (Disease Ontology:DOID:1115); alcohol use disorder (Disease Ontology:DOID:1574); nephrosis (Disease Ontology:DOID:2527); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); kidney disease (Disease Ontology:DOID:557); end stage renal disease (Disease Ontology:DOID:783); vascular dementia (Disease Ontology:DOID:8725); type 2 diabetes mellitus (Disease Ontology:DOID:9352); lipid storage disease (Disease Ontology:DOID:9455); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6721); (R-HSA-1655829); (R-HSA-1989781); (R-HSA-2426168); (R-HSA-381340); (R-HSA-6807062); (R-HSA-9619665)", "pathway_count": 7, "publication_count": 306, "publication_id_list": "10075656;10203854;10220111;10369263;10397761;10400691;10425206;10428864;10644685;10727776;10757804;10759542;10777541;10805775;10856243;11095972;11115854;11133365;11157804;11237011;11267664;11283257;11356866;11394999;11414710;11430795;11430802;11477106;11734543;11782409;11872672;12056842;12083769;12118000;12145339;12177166;12198163;12202038;12213831;12505311;12582161;12764144;12782656;12799134;12829629;12829805;1377680;14404284;14512514;14522948;14645851;14664827;14988395;15067378;15130092;15150276;15189448;15273253;15356632;15550381;15610069;15635043;15695336;15836632;15850785;15907797;15919796;16136673;16311519;16319321;16373334;16380219;16784888;16923174;16959974;16972786;17011499;1704008;17287340;17325040;17449569;17699610;17925399;17959798;17980149;18403372;18477386;18540824;18559965;18634568;18654640;18682402;18719978;18726356;18803322;18848529;18931025;19043829;19088433;19115207;19143832;19156870;19172745;19321787;1968462;19706601;19710929;19745155;1975954;19922439;19934321;20101261;20110263;20112406;20138239;20149798;20213556;20450493;20625412;20719759;20832498;20937905;21044070;21285510;21326363;21411665;21423190;21423191;21613327;21653862;22053691;22180461;22333914;22424782;22492709;22544926;22634312;22764250;22814607;23050906;23186163;23239344;23481700;23695165;23747866;23874858;24191038;24196956;24227709;24366607;24646194;24675079;24714562;24715725;25418920;25469497;25576301;25645385;25802875;25974668;26154972;26311497;26375851;26423937;26441514;26728094;26992070;27220739;27288457;27397612;27600516;27846572;27859941;27862975;27893789;27920218;28063628;28218747;28228285;28446606;28832583;28834231;28849786;28852375;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29748249;29786170;30315122;30410026;30429286;30484775;30524438;31217245;31637018;31844290;31875875;32157095;32265295;32322062;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35120642;35132862;35154160;35254053;35318648;35561310;35580925;35862218;36010968;36215666;36241641;36284347;37541260;37938771;38665916;38728412;38847193;38880128;38970696;41350704;7567999;7592729;7685352;7732023;7892212;7903453;7909540;7925941;7935840;8020941;8138712;8156598;8325954;8349731;8402897;8619637;8626466;8626488;8626610;8627307;8643593;8643605;8647822;8662541;8663599;8674110;8706692;8770873;8797093;8798690;8842374;8970730;8976377;9012850;9065481;9099716;9418958;9454824;9482253;9488713;9604010;9634533;9634703;9651382;9659902;9705348;9748239;9748295;9836620;9858769", "class_list": "", "function": "A lactate-SREBP2 signaling axis drives tolerogenic dendritic cell maturation and promotes cancer progression., [RefSeq, PubMed]; Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities., [RefSeq, PubMed]; Human cytomegalovirus infection impairs neural differentiation via repressing sterol regulatory element binding protein 2-mediated cholesterol biosynthesis. Publication Status: Online-Only, [RefSeq, PubMed]; Hyperactivation of SREBP induces pannexin-1-dependent lytic cell death., [RefSeq, PubMed]; Key transcription factor that regulates expression of genes involved in cholesterol biosynthesis (PubMed:12177166, PubMed:32322062). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3'). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3') (PubMed:12177166, PubMed:7903453). Regulates transcription of genes related to cholesterol synthesis pathway (PubMed:12177166, PubMed:32322062)., [UniProtKB, PubMed, PubMed, PubMed]; Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 2), which is embedded in the endoplasmic reticulum membrane (PubMed:32322062). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis (PubMed:32322062)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q05BD5;Q6GTH7;Q86V36;Q9UH04", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0070888 E-box binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006629 lipid metabolic process;GO:0008203 cholesterol metabolic process", "synthesized_glycan_count": 0, "hit_score": 31.2, "record_id": "Q12772-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6G5-1", "uniprot_id": [ { "id": "COMDA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6G5", "type": "external" } ], "mass": 22966.0, "length": 202, "protein_name": "COMM domain-containing protein 10", "gene_name": "COMMD10", "organism": "Human", "refseq_name": "COMM domain-containing protein 10 isoform b", "refseq_ac": [ { "id": "NP_001295009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295009", "type": "external" } ], "gene_names_uniprotkb": "COMMD10; HSPC305; PTD002", "gene_names_refseq": "COMMD10; PTD002", "protein_names_uniprotkb": "COMM domain-containing protein 10", "protein_names_refseq": "COMM domain-containing protein 10 isoform b; COMM domain-containing protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:51397); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 166, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;20068231;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23186163;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23637203;23912815;23986495;24076655;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25469497;25531226;25576301;26154972;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27920218;28063628;28115426;28218747;28510447;28832583;28904123;29153394;29242379;29437277;29493099;29508533;29632046;29632711;29786170;30315122;30410026;30524438;30610225;30833945;31844290;31848261;31998317;32005965;32157095;32265295;32284348;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;35051231;35318648;35561310;35580925;36919165;37172566;37938771;38459129;9790970;9887101;9891082", "class_list": "", "function": "Comprehensive analysis of COMMD10 as a novel prognostic biomarker for gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DT07;Q9P077", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q9Y6G5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NG3-1", "uniprot_id": [ { "id": "ODAD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NG3", "type": "external" } ], "mass": 76655.0, "length": 672, "protein_name": "Outer dynein arm-docking complex subunit 4", "gene_name": "ODAD4", "organism": "Human", "refseq_name": "outer dynein arm-docking complex subunit 4 isoform 1", "refseq_ac": [ { "id": "NP_113609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113609", "type": "external" } ], "gene_names_uniprotkb": "ODAD4; TTC25", "gene_names_refseq": "ODAD4; TTC25", "protein_names_uniprotkb": "Outer dynein arm-docking complex subunit 4; TPR repeat protein 25; Tetratricopeptide repeat protein 25", "protein_names_refseq": "TPR repeat protein 25; outer dynein arm-docking complex subunit 4 isoform 1; tetratricopeptide repeat domain 25; tetratricopeptide repeat protein 25", "tax_id": 9606, "disease": "primary ciliary dyskinesia 35 (Disease Ontology:DOID:0110620)", "pathway": " (hsa:83538)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11230166;11237011;18991276;19651622;23481700;25860617;26853435;27486780;28513607;30524438;32157095;34087483;35051231;36140829;36215666;39894887", "class_list": "", "function": "Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Plays an essential role for the assembly of ODA-DC and for the docking of ODA in ciliary axoneme., [UniProtKB, PubMed]; Report of TTC25 as a new member of the outer dynein arms docking machinery in humans and mice, [RefSeq, PubMed]; TTC25 variants are associated with quantitative autistic trait in patients with autism spectrum disorder. Variants in TTC25 may also be relevant for broader ASD phenotype in the general population., [RefSeq, PubMed]; This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NX40;Q6PJ04;Q9H0K5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005929 cilium;GO:0005930 axoneme;GO:0097729 9+2 motile cilium", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement;GO:0036158 outer dynein arm assembly;GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry;GO:0120197 mucociliary clearance", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96NG3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00532-1", "uniprot_id": [ { "id": "CDKL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00532", "type": "external" } ], "mass": 41701.0, "length": 357, "protein_name": "Cyclin-dependent kinase-like 1", "gene_name": "CDKL1", "organism": "Human", "refseq_name": "cyclin-dependent kinase-like 1 isoform 2", "refseq_ac": [ { "id": "NP_001269165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269165", "type": "external" } ], "gene_names_uniprotkb": "CDKL1", "gene_names_refseq": "CDKL1; KKIALRE; P42", "protein_names_uniprotkb": "Cyclin-dependent kinase-like 1; 2.7.11.22; Protein kinase p42 KKIALRE; Serine/threonine-protein kinase KKIALRE", "protein_names_refseq": "cyclin-dependent kinase-like 1 (CDC2-related kinase); cyclin-dependent kinase-like 1 isoform 2; protein kinase p42 KKIALRE; serine/threonine protein kinase KKIALRE", "tax_id": 9606, "disease": "", "pathway": " (hsa:8814)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;1639063;17344846;22804458;28832583;29242379;29262732;29420175;29485866;29632046;29789417;30802495;31848261;34165179;9000130", "class_list": "", "function": "CDKL1 overexpression decreased the chemosensitivity of oral squamous cell carcinoma cells to hydroxycamptothecin., [RefSeq, PubMed]; CDKL1 was overexpressed in breast cancer patients and had a positive detection efficiency of 77% (144/186)., [RefSeq, PubMed]; Chk1 directly interacts with MYPT1 and preferentially phosphorylates MYPT1 at Ser20, which is essential for MYPT1-PP1cbeta interaction and subsequent Plk1 dephosphorylation., [RefSeq, PubMed]; Egr1 inhibits colon cancer cell proliferation, migration and invasion via regulating CDKL1 at the transcriptional level., [RefSeq, PubMed]; This gene product is a member of a large family of CDC2-related serine/threonine protein kinases that accumulates primarily in the nucleus. [provided by RefSeq, Nov 2018]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "J3KMW1;Q2M3A4;Q6QUA0;Q8WXQ5", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0106310 protein serine kinase activity;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0070062 extracellular exosome;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007507 heart development;GO:1902017 regulation of cilium assembly", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q00532-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07627-1", "uniprot_id": [ { "id": "KRA11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07627", "type": "external" } ], "mass": 18235.0, "length": 177, "protein_name": "Keratin-associated protein 1-1", "gene_name": "KRTAP1-1", "organism": "Human", "refseq_name": "keratin-associated protein 1-1", "refseq_ac": [ { "id": "NP_112229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112229", "type": "external" } ], "gene_names_uniprotkb": "KRTAP1-1; B2A; KAP1.1; KAP1.6; KAP1.7; KRTAP1.1", "gene_names_refseq": "HB2A; KAP1.1A; KAP1.1B; KAP1.1; KAP1.6; KAP1.7; KRTAP1-1; KRTAP1.1; KRTAP1A; hKAP1.7", "protein_names_uniprotkb": "Keratin-associated protein 1-1; High sulfur keratin-associated protein 1.1; Keratin-associated protein 1.1; Keratin-associated protein 1.6; Keratin-associated protein 1.7", "protein_names_refseq": "high sulfur keratin-associated protein 1.1; keratin associated protein 1.7; keratin associated protein 1A; keratin-associated protein 1-1; keratin-associated protein 1.1; keratin-associated protein 1.6", "tax_id": 9606, "disease": "", "pathway": " (hsa:81851); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "11279113;11841537;12228244;15373777;16382671;1691188;1694855;1714783;17521629;23481192;2414304;24439038;25208914;33633223;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; Krtap11-1 may play an important role on keratin-bundle assembly in the hair cortex., [RefSeq, PubMed]; Polymorphisms in Japanese and Caucasian individuals, [RefSeq, PubMed]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NC32;Q96S60;Q96S67", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q07627-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43242-1", "uniprot_id": [ { "id": "PSMD3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43242", "type": "external" } ], "mass": 60978.0, "length": 534, "protein_name": "26S proteasome non-ATPase regulatory subunit 3", "gene_name": "PSMD3", "organism": "Human", "refseq_name": "26S proteasome non-ATPase regulatory subunit 3", "refseq_ac": [ { "id": "NP_002800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002800", "type": "external" } ], "gene_names_uniprotkb": "PSMD3", "gene_names_refseq": "P58; PSMD3; RPN3; S3; TSTA2", "protein_names_uniprotkb": "26S proteasome non-ATPase regulatory subunit 3; 26S proteasome regulatory subunit RPN3; 26S proteasome regulatory subunit S3; Proteasome subunit p58", "protein_names_refseq": "26S proteasome non-ATPase regulatory subunit 3; 26S proteasome regulatory subunit RPN3; 26S proteasome regulatory subunit S3; proteasome (prosome, macropain) 26S subunit, non-ATPase, 3; proteasome subunit p58; tissue specific transplantation antigen 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5709); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-6798695); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1069, "publication_id_list": 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"class_list": "", "function": "Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair., [UniProtKB, PubMed]; PSMD3 gene mutations cause pathological myopia., [RefSeq, PubMed]; PSMD3-ILF3 signaling cascade drives lung cancer cell proliferation and migration. Publication Status: Online-Only, [RefSeq, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the proteasome subunit S3 family that functions as one of the non-ATPase subunits of the 19S regulator lid. Single nucleotide polymorphisms in this gene are associated with neutrophil count. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B3KMW9;B4DT72;Q96EI2;Q9BQA4", "ec_number_list": [], "go_molecular_function": "GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0022624 proteasome accessory complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 107.6, "record_id": "O43242-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYA1-1", "uniprot_id": [ { "id": "SPHK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYA1", "type": "external" } ], "mass": 42518.0, "length": 384, "protein_name": "Sphingosine kinase 1", "gene_name": "SPHK1", "organism": "Human", "refseq_name": "sphingosine kinase 1 isoform 3", "refseq_ac": [ { "id": "NP_001136073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136073", "type": "external" } ], "gene_names_uniprotkb": "SPHK1; SK1; SPHK; SPK", "gene_names_refseq": "SPHK1; SPHK", "protein_names_uniprotkb": "Sphingosine kinase 1; 2.3.1.-; 2.7.1.91; Acetyltransferase SPHK1; SK 1; SPK 1", "protein_names_refseq": "SK 1; SPK 1; acetyltransferase SPHK1; sphingosine kinase 1 isoform 3", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); adenocarcinoma (Disease Ontology:DOID:299); high grade glioma (Disease Ontology:DOID:3070); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8877); (R-HSA-1660661); (R-HSA-390471); (R-HSA-5218921); (R-HSA-9009391); (R-HSA-9833482)", "pathway_count": 6, "publication_count": 332, "publication_id_list": "10082513;10319328;10348343;10400669;10421574;10427092;10620360;10626894;10648614;10722674;10749889;10751414;10802064;10806474;10848580;10863092;10866685;10947957;11029009;11029403;11043579;11044445;11096080;11134010;11152499;11156368;11185956;11237011;11238103;11238927;11278865;11313968;11337501;11350938;11369763;11387210;11438540;11500375;11600407;11689445;11773442;11773443;11781817;11825873;11909525;11923095;11937514;11939789;11981029;11985496;12048194;12080051;12231563;12388769;12391145;12397061;12421825;12431978;12502735;12511868;12588983;12682286;12776187;12808053;12840507;12881510;12882984;1373135;1378832;14532121;14575709;14585331;14685229;14685263;14764897;14976195;15033483;15044318;15063729;15090535;15229216;15231873;15299030;15314172;15328338;15337768;15467163;15496458;15569929;15623571;15657067;15705661;15737233;15752359;15879121;15907845;15956360;16100120;16118219;16179258;16179259;16239258;16243846;16274718;16373505;16431927;16522638;16571669;16600570;16636149;16645038;16717090;16793762;16835357;16861033;16895911;1695551;16982605;17023427;17037979;17050692;17079286;17196820;17331073;17355976;17424910;17449912;17525128;17535799;17591919;17916740;17921256;17982138;18096616;18165232;18165233;18184806;18206197;18263879;18657504;18669648;18775504;18835251;18852266;18957415;19005213;19011634;19138696;19229320;19233134;19416851;19416861;19506037;19710021;19733181;19804757;19815712;19838063;19854831;19879889;20061445;20110355;20112406;20182505;20395957;20439495;20519500;20577214;20634980;20650261;20685959;20807769;20861220;21072047;21075214;21098288;21123651;21294215;21518807;21620961;21636578;21680538;21851428;21937648;21978664;21994559;21995946;22028449;22031296;22214662;22266855;22446104;2247437;22517924;22970244;22986343;23084476;23180825;23229543;23602659;23732991;23747015;23754960;23935096;24039841;24347309;24464131;24530924;24569996;24623135;24659800;24753571;24756126;24782409;24929359;25342745;25417698;25467444;25587652;25653431;25788259;25848059;25880248;26432638;26446704;26488609;26716879;26817845;27129165;27208315;27269119;27288742;27423063;27920218;27941888;27974558;28049734;28069888;28167698;28281686;28539435;28575652;28765891;28942351;28982849;29170442;29175459;29231267;29242379;29348664;29393594;29394925;29395325;29440070;29501855;29563527;29662056;29738483;29786170;30174290;30315122;30770398;31031002;31097785;31413745;31844290;31895563;32093270;32157095;32387766;32488085;32716602;32801355;32938616;33441957;33691108;33808629;33911136;33968037;34174402;34974812;35051231;35409383;35580925;35685460;35947956;36712380;36902339;36907437;37127961;37224812;37390971;38200582;38852936;38953574;4339164;4817756;7491766;7515177;7526779;7545299;7565688;7693978;7737357;7750475;7903669;8576172;8576179;8661426;8782602;8810342;8876252;8910500;9034343;9079663;9173876;9188692;9218480;9312549;9363775;9395517;9442054;9521856;9528799;9565625;9616126;9687506;9737981;9819388;9819444;9889098;9920933", "class_list": "glycogene", "function": "Activation of this enzyme in mediated by ERK1/2 phoshporylation, [RefSeq, PubMed]; Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol, ceramide, or phosphatidylinositol (PubMed:11923095, PubMed:20577214, PubMed:23602659, PubMed:24929359, PubMed:29662056). In contrast to proapoptotic SPHK2, has a negative effect on intracellular ceramide levels, enhances cell growth and inhibits apoptosis (PubMed:16118219). Involved in the regulation of inflammatory response and neuroinflammation. Via the product sphingosine 1-phosphate, stimulates TRAF2 E3 ubiquitin ligase activity, and promotes activation of NF-kappa-B in response to TNF signaling leading to IL17 secretion (PubMed:20577214). In response to TNF and in parallel to NF-kappa-B activation, negatively regulates RANTES induction through p38 MAPK signaling pathway (PubMed:23935096). Involved in endocytic membrane trafficking induced by sphingosine, recruited to dilate endosomes, also plays a role on later stages of endosomal maturation and membrane fusion independently of its kinase activity (PubMed:24929359, PubMed:28049734). In Purkinje cells, seems to be also involved in the regulation of autophagosome-lysosome fusion upon VEGFA (PubMed:25417698)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Has serine acetyltransferase activity on PTGS2/COX2 in an acetyl-CoA dependent manner. The acetyltransferase activity increases in presence of the kinase substrate, sphingosine. During neuroinflammation, through PTGS2 acetylation, promotes neuronal secretion of specialized preresolving mediators (SPMs), especially 15-R-lipoxin A4, which results in an increase of phagocytic microglia., [UniProtKB, UniProtKB]; Interference with sphingosine kinase-1 reduces the hydrogen peroxide-induced oxidative stress damage in melanocytes through four and a half LIM domains 2., [RefSeq, PubMed]; SphK1 deficiency ameliorates the development of atherosclerosis by inhibiting the S1P/S1PR3/Rhoa/ROCK pathway., [RefSeq, PubMed]; Targeting the SphK1/S1P/PFKFB3 axis suppresses hepatocellular carcinoma progression by disrupting glycolytic energy supply that drives tumor angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate (S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors. This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway important in inflammatory, antiapoptotic, and immune processes. Phosphorylation of this protein alters its catalytic activity and promotes its translocation to the plasma membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 500, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "predictive", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N632;Q96GK1;Q9HD92;Q9NY70;Q9NYL3", "ec_number_list": [ { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.5.4.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.37", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.3.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.91", "type": "external" } ], "go_molecular_function": "GO:0001727 lipid kinase activity;GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0005516 calmodulin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006670 sphingosine metabolic process;GO:0032740 positive regulation of interleukin-17 production;GO:1900060 negative regulation of ceramide biosynthetic process;GO:0046521 sphingoid catabolic process;GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "Q9NYA1-1", "record_type": "protein", "filter_code": "0010000.1100111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL17-1", "uniprot_id": [ { "id": "TBX21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL17", "type": "external" } ], "mass": 58328.0, "length": 535, "protein_name": "T-box transcription factor TBX21", "gene_name": "TBX21", "organism": "Human", "refseq_name": "T-box transcription factor TBX21", "refseq_ac": [ { "id": "NP_037483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037483", "type": "external" } ], "gene_names_uniprotkb": "TBX21; TBET; TBLYM", "gene_names_refseq": "IMD88; T-PET; T-bet; TBET; TBLYM; TBX21", "protein_names_uniprotkb": "T-box transcription factor TBX21; T-box protein 21; T-cell-specific T-box transcription factor T-bet; Transcription factor TBLYM", "protein_names_refseq": "T-box 21; T-box expressed in T cells; T-box protein 21; T-box transcription factor TBX21; T-box transcription factor expressed in T cells; T-cell-specific T-box transcription factor T-bet; transcription factor TBLYM", "tax_id": 9606, "disease": "immunodeficiency 88 (Disease Ontology:DOID:0061058); childhood-onset asthma (Disease Ontology:DOID:0080815); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); asthma, nasal polyps, and aspirin intolerance (Disease Ontology:DOID:0111579); malaria (Disease Ontology:DOID:12365); dilated cardiomyopathy (Disease Ontology:DOID:12930); uveitis (Disease Ontology:DOID:13141); orchitis (Disease Ontology:DOID:2518); asthma (Disease Ontology:DOID:2841); autoimmune thyroiditis (Disease Ontology:DOID:7188); periapical periodontitis (Disease Ontology:DOID:823); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:30009); (R-HSA-9942503)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10761931;12128215;12938094;12960249;15662016;15806396;16275766;23481700;24714562;24715725;24845384;25418920;25576301;25892735;26154972;26375851;26728094;27292648;27846572;27920218;28121444;28218747;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30315122;30410026;30524438;31092671;31217245;31844290;31848261;32265295;32488085;32502341;32983136;33296702;33298915;33912179;33936100;34531288;34932366;35051231;36581221;37039998;37067748;37279078;38101155;38468428", "class_list": "", "function": "Among twenty-three novel polymorphisms identified in the human TBX21 gene of Korean asthma patients, no significant associations of TBX21 variants with risk of asthma were observed. GeneRIF: Observational study of genotype prevalence and gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Correlation of TBX21 gene polymorphisms with ankylosing spondylitis in a Chinese population., [RefSeq, PubMed]; Distribution of T-BET/TBX21 expression in the haematopoietic compartment, [RefSeq, PubMed]; Evaluation of the presence of Th1 response through T-bet and IFN-gamma immunohistochemical expression in lower lip and oral tongue squamous cell carcinomas., [RefSeq, PubMed]; Expression analysis of IL-2, TBX21 and SOCS1 in peripheral blood cells of celiac disease patients reveals the diagnostic potential of IL-2., [RefSeq, PubMed]; Lineage-defining transcription factor which initiates Th1 lineage development from naive Th precursor cells both by activating Th1 genetic programs and by repressing the opposing Th2 and Th17 genetic programs (PubMed:10761931). Activates transcription of a set of genes important for Th1 cell function, including those encoding IFN-gamma and the chemokine receptor CXCR3. Induces permissive chromatin accessibility and CpG methylation in IFNG (PubMed:33296702). Activates IFNG and CXCR3 genes in part by recruiting chromatin remodeling complexes including KDM6B, a SMARCA4-containing SWI/SNF-complex, and an H3K4me2-methyltransferase complex to their promoters and all of these complexes serve to establish a more permissive chromatin state conducive with transcriptional activation (By similarity). Can activate Th1 genes also via recruitment of Mediator complex and P-TEFb (composed of CDK9 and CCNT1/cyclin-T1) in the form of the super elongation complex (SEC) to super-enhancers and associated genes in activated Th1 cells (PubMed:27292648). Inhibits the Th17 cell lineage commitment by blocking RUNX1-mediated transactivation of Th17 cell-specific transcriptinal regulator RORC. Inhibits the Th2 cell lineage commitment by suppressing the production of Th2 cytokines, such as IL-4, IL-5, and IL- 13, via repression of transcriptional regulators GATA3 and NFATC2. Protects Th1 cells from amplifying aberrant type-I IFN response in an IFN-gamma abundant microenvironment by acting as a repressor of type-I IFN transcription factors and type-I IFN-stimulated genes. Acts as a regulator of antiviral B-cell responses; controls chronic viral infection by promoting the antiviral antibody IgG2a isotype switching and via regulation of a broad antiviral gene expression program (By similarity). Required for the correct development of natural killer (NK) and mucosal-associated invariant T (MAIT) cells (PubMed:33296702)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; T-BET and EOMES sustain mature human NK cell identity and antitumor function. Publication Status: Online-Only, [RefSeq, PubMed]; TBX21 attenuates colorectal cancer progression via an ARHGAP29/RSK/GSK3beta dependent manner., [RefSeq, PubMed]; This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [provided by RefSeq, Jul 2008]., [RefSeq]; VZV virus and mite antigens induce expression of this transcriptionn factor in cord blood mononuclear cells, differenetially affecting Th1 and Th2 cells., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0043025 neuronal cell body;GO:0000785 chromatin", "go_biological_process": "GO:0001708 cell fate specification;GO:0032703 negative regulation of interleukin-2 production;GO:2000320 negative regulation of T-helper 17 cell differentiation;GO:0002296 T-helper 1 cell lineage commitment;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9UL17-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13286-1", "uniprot_id": [ { "id": "CLN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13286", "type": "external" } ], "mass": 47623.0, "length": 438, "protein_name": "Battenin", "gene_name": "CLN3", "organism": "Human", "refseq_name": "battenin isoform a", "refseq_ac": [ { "id": "NP_000077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000077", "type": "external" } ], "gene_names_uniprotkb": "CLN3; BTS", "gene_names_refseq": "BTN1; BTS; CLN3; JNCL; RP101; SLC29B1", "protein_names_uniprotkb": "Battenin; Batten disease protein; Protein CLN3", "protein_names_refseq": "CLN3, battenin; batten disease protein; battenin isoform a; battenin; ceroid-lipofuscinosis, neuronal 3", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); traumatic brain injury (Disease Ontology:DOID:0081292); neuronal ceroid lipofuscinosis 1 (Disease Ontology:DOID:0110721); neuronal ceroid lipofuscinosis 3 (Disease Ontology:DOID:0110731); retinitis pigmentosa 85 (Disease Ontology:DOID:0112142); hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); alcoholic hepatitis (Disease Ontology:DOID:12351); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); pancreatic cancer (Disease Ontology:DOID:1793); transient cerebral ischemia (Disease Ontology:DOID:224); pulmonary hypertension (Disease Ontology:DOID:6432); congenital nystagmus (Disease Ontology:DOID:9649)", "pathway": " (hsa:1201); (R-HSA-9845576)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10191115;10191116;10332042;10924275;11237011;12706816;14644441;14699076;14759258;15107860;15240864;15302935;15329726;15469932;15471887;15598649;16103222;17081983;17105344;17189291;17237713;17286803;17482562;17687330;17897319;17980653;18317235;18452278;18578522;18621045;18669648;18691976;18707149;18817525;19651622;19690332;19940249;19941651;20015955;20068231;20166139;20850431;21406692;21990111;22261744;23186163;23290777;23791178;23840424;23863933;24190977;25051496;25576301;25813380;26202220;28218747;28390177;28904123;29557506;30484775;30833945;31154438;31217245;31568712;31611695;31844290;31848261;32157095;32161166;32339554;32387766;32983136;33592498;33912179;33968037;34019948;34357683;34499882;35051231;35580925;36215666;36241641;38195117;39080379;39367445;39438652;9119403;9311735;9490299;9878558;9949212", "class_list": "", "function": "CLN3 deficiency leads to neurological and metabolic perturbations during early development. Publication Status: Online-Only, [RefSeq, PubMed]; CLN3 transcript complexity revealed by long-read RNA sequencing analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of CLN3 in microglia leads to impaired lipid metabolism and myelin turnover. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates microtubule-dependent, anterograde transport connecting the Golgi network, endosomes, autophagosomes, lysosomes and plasma membrane, and participates in several cellular processes such as regulation of lysosomal pH, lysosome protein degradation, receptor-mediated endocytosis, autophagy, transport of proteins and lipids from the TGN, apoptosis and synaptic transmission (PubMed:10924275, PubMed:15471887, PubMed:18317235, PubMed:18817525, PubMed:20850431, PubMed:22261744). Facilitates the proteins transport from trans-Golgi network (TGN)-to other membrane compartments such as transport of microdomain-associated proteins to the plasma membrane, IGF2R transport to the lysosome where it regulates the CTSD release leading to regulation of CTSD maturation and thereby APP intracellular processing (PubMed:10924275, PubMed:18817525). Moreover regulates CTSD activity in response to osmotic stress (PubMed:23840424, PubMed:28390177). Also binds galactosylceramide and transports it from the trans Golgi to the rafts, which may have immediate and downstream effects on cell survival by modulating ceramide synthesis (PubMed:18317235). At the plasma membrane, regulates actin-dependent events including filopodia formation, cell migration, and pinocytosis through ARF1-CDC42 pathway and also the cytoskeleton organization through interaction with MYH10 and fodrin leading to the regulation of the plasma membrane association of Na+, K+ ATPase complex (PubMed:20850431). Regulates synaptic transmission in the amygdala, hippocampus, and cerebellum through regulation of synaptic vesicles density and their proximity to active zones leading to modulation of short-term plasticity and age-dependent anxious behavior, learning and memory (By similarity). Regulates autophagic vacuoles (AVs) maturation by modulating the trafficking between endocytic and autophagolysosomal/lysosomal compartments, which involves vesicle fusion leading to regulation of degradation process (By similarity). Also participates in cellular homeostasis of compounds such as, water, ions, amino acids, proteins and lipids in several tissue namely in brain and kidney through regulation of their transport and synthesis (PubMed:17482562)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 13, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R7J1;B4DXL3;O00668;O95089;Q549S9;Q9UP09;Q9UP11;Q9UP12;Q9UP13;Q9UP14", "ec_number_list": [], "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0017089 glycolipid transfer activity;GO:0051861 glycolipid binding;GO:0120146 sulfatide binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0097352 autophagosome maturation;GO:2001288 positive regulation of caveolin-mediated endocytosis;GO:0010762 regulation of fibroblast migration;GO:0046836 glycolipid transport;GO:0048172 regulation of short-term neuronal synaptic plasticity", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q13286-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IX12-1", "uniprot_id": [ { "id": "CCAR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IX12", "type": "external" } ], "mass": 132821.0, "length": 1150, "protein_name": "Cell division cycle and apoptosis regulator protein 1", "gene_name": "CCAR1", "organism": "Human", "refseq_name": "cell division cycle and apoptosis regulator protein 1 isoform b", "refseq_ac": [ { "id": "NP_001269888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269888", "type": "external" } ], "gene_names_uniprotkb": "CCAR1; CARP1; DIS", "gene_names_refseq": "CCAR1; uc.285+", "protein_names_uniprotkb": "Cell division cycle and apoptosis regulator protein 1; CARP-1; Cell cycle and apoptosis regulatory protein 1; Death inducer with SAP domain", "protein_names_refseq": "cell cycle and apoptosis regulatory protein 1; cell division cycle and apoptosis regulator protein 1 isoform b; cell division cycle and apoptosis regulator protein 1; death inducer with SAP domain", "tax_id": 9606, "disease": "", "pathway": " (hsa:55749); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 234, "publication_id_list": "10.1101/2023.09.13.557529;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;12816952;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15302935;15565158;16314458;16809785;16959974;17095540;17128255;17332742;17525332;17606899;18288197;18322460;18452278;18593880;18655026;18722177;19103666;19165350;19217410;19536130;19651622;20068231;20305658;20423332;20695905;20980672;21295486;21406692;21536652;21740066;2176635;21911577;22110043;22365833;22706990;22813749;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23874216;23887938;24076191;24149845;24196718;24245781;24275569;24304693;24448447;24715725;24737827;24914973;25114211;25218447;25301780;25301781;25555158;25576301;2558966;25645385;25755297;25772364;25802875;25880248;25894788;26092250;26154972;26375851;26385511;26420826;26768311;26969736;26992070;27108190;27377154;27459055;27655845;27683217;27846572;27862975;27920218;28062851;28076346;28096519;28218747;28228285;28502770;28514659;28649982;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30379171;30429286;30524438;30599162;30626607;30705154;30728453;30765414;30779550;30975767;31217245;31373491;31409651;31492838;31844290;32119511;32157095;32179686;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32816001;32870666;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33465208;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34301950;34405274;34509645;34725712;34822310;34846842;35051231;35138101;35177536;35215846;35251023;35385551;35513511;35580925;36010968;36215666;36241641;36284347;37563361;3757028;37938771;38552953;38665916;39025073;39247813;39531497;39534244;40136647;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "A transcribed ultraconserved noncoding RNA, uc.285+, promotes colorectal cancer proliferation through dual targeting of CDC42 by directly binding mRNA and protein., [RefSeq, PubMed]; Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation (By similarity). May be involved in apoptosis signaling in the presence of the reinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (PubMed:12816952). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Cell cycle and apoptosis regulatory protein-1 is a novel mediator of apoptosis signaling by retinoid CD437, [RefSeq, PubMed]; M6A-modified circABCC4 promotes stemness and metastasis of prostate cancer by recruiting IGF2BP2 to increase stability of CCAR1., [RefSeq, PubMed]; RUNX1-PDIA5 Axis Promotes Malignant Progression of Glioblastoma by Regulating CCAR1 Protein Expression. Publication Status: Online-Only, [RefSeq, PubMed]; The splicing factor CCAR1 regulates the Fanconi anemia/BRCA pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 32, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 32, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 32, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 33, "binding_glycan_count": 0, "secondary_ac_list": "A0JLT7;A1L4P7;A8K9D4;B4DNP8;B4DRK8;Q32NE3;Q5EBM3;Q5VUP6;Q6PIZ0;Q6X935;Q9H8N4;Q9NVA7;Q9NVQ0;Q9NWM6", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003714 transcription corepressor activity;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005641 nuclear envelope lumen;GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 27.1, "record_id": "Q8IX12-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15517-1", "uniprot_id": [ { "id": "CDSN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15517", "type": "external" } ], "mass": 51607.0, "length": 529, "protein_name": "Corneodesmosin", "gene_name": "CDSN", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CDSN", "gene_names_refseq": "", "protein_names_uniprotkb": "Corneodesmosin; S protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "peeling skin syndrome (Disease Ontology:DOID:0060283); peeling skin syndrome 1 (Disease Ontology:DOID:0070520); hypotrichosis 2 (Disease Ontology:DOID:0110699); atopic dermatitis (Disease Ontology:DOID:3310); alopecia (Disease Ontology:DOID:987)", "pathway": " (hsa:1041); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10.1038/emboj.2013.79;10066784;10196183;10231017;10411887;10588656;10599883;10771479;10844560;11169256;11350120;11380615;11590230;12366786;12472658;12754508;12902340;15033990;15337775;15797384;15803139;16061697;16639001;16702430;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20691404;20940292;21439340;21654840;21997417;23584533;23629652;25926655;26374642;26375851;26390218;26758079;28649982;29331515;29393594;29786170;30397120;30524438;30626607;31154438;31717259;32265295;33043033;37938771;38665916;7543090;8415725;8824274;8999895;9395522;9565599;9712893", "class_list": "", "function": "Important for the epidermal barrier integrity., [UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B0S7V2;B0UYZ7;G8JLG2;O43509;Q5SQ85;Q5STD2;Q7LA70;Q7LA71;Q86Z04;Q8IZU4;Q8IZU5;Q8IZU6;Q8N5P3;Q95IF9;Q9NP52;Q9NPE0;Q9NPG5;Q9NRH4;Q9NRH5;Q9NRH6;Q9NRH7;Q9NRH8;Q9UBH8;Q9UIN6;Q9UIN7;Q9UIN8;Q9UIN9;Q9UIP0", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0001533 cornified envelope;GO:0030057 desmosome", "go_biological_process": "GO:0007155 cell adhesion;GO:1990000 amyloid fibril formation;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation;GO:0098609 cell-cell adhesion", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q15517-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55773-1", "uniprot_id": [ { "id": "CCL23_HUMAN", "url": "https://www.uniprot.org/uniprot/P55773", "type": "external" } ], "mass": 13443.0, "length": 120, "protein_name": "C-C motif chemokine 23", "gene_name": "CCL23", "organism": "Human", "refseq_name": "C-C motif chemokine 23 isoform CKbeta8-1 precursor", "refseq_ac": [ { "id": "NP_005055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005055", "type": "external" } ], "gene_names_uniprotkb": "CCL23; MIP3; MPIF1; SCYA23", "gene_names_refseq": "CCL23; CK-BETA-8; CKb8; Ckb-8-1; Ckb-8; MIP-3; MIP3; MPIF-1; SCYA23; hmrp-2a", "protein_names_uniprotkb": "C-C motif chemokine 23; CK-beta-8; CKB-8; MIP-3; MPIF-1; Macrophage inflammatory protein 3; Myeloid progenitor inhibitory factor 1; Small-inducible cytokine A23", "protein_names_refseq": "C-C motif chemokine 23 isoform CKbeta8-1 precursor; C6 beta-chemokine; chemokine (C-C motif) ligand 23; macrophage inflammatory protein 3; myeloid progenitor inhibitory factor 1; small inducible cytokine subfamily A (Cys-Cys), member 23", "tax_id": 9606, "disease": "", "pathway": " (hsa:6368)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10213461;11060285;11237011;15905581;35750747;38325139;9104803;9129202;9558365", "class_list": "", "function": "Delayed CCL23 response is associated with poor outcomes after cardiac arrest., [RefSeq, PubMed]; Macrophage-derived CCL23 upregulates expression of T-cell exhaustion markers in ovarian cancer., [RefSeq, PubMed]; Shows chemotactic activity for monocytes, resting T-lymphocytes, and neutrophils, but not for activated lymphocytes. Inhibits proliferation of myeloid progenitor cells in colony formation assays. This protein can bind heparin. Binds CCR1. CCL23(19-99), CCL23(22-99), CCL23(27-99), CCL23(30-99) are more potent chemoattractants than CCL23., [UniProtKB, PubMed]; This gene is one of several chemokine genes clustered on the q-arm of chromosome 17. Chemokines form a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of the N-terminal cysteine residues of the mature peptide. This chemokine, a member of the CC subfamily, displays chemotactic activity on resting T lymphocytes and monocytes, lower activity on neutrophils and no activity on activated T lymphocytes. The protein is also a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. In addition, the product of this gene is a potent agonist of the chemokine (C-C motif) receptor 1. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKQ3;O00174;O75950;Q52LD4", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0031726 CCR1 chemokine receptor binding;GO:0008009 chemokine activity;GO:0048020 CCR chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P55773-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16671-1", "uniprot_id": [ { "id": "CD36_HUMAN", "url": "https://www.uniprot.org/uniprot/P16671", "type": "external" } ], "mass": 53053.0, "length": 472, "protein_name": "Platelet glycoprotein 4", "gene_name": "CD36", "organism": "Human", "refseq_name": "platelet glycoprotein 4 isoform 1", "refseq_ac": [ { "id": "NP_000063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000063", "type": "external" } ], "gene_names_uniprotkb": "CD36; GP3B; GP4", "gene_names_refseq": "BDPLT10; CD36; CHDS7; FAT; GP3B; GP4; GPIV; PASIV; SCARB3", "protein_names_uniprotkb": "Platelet glycoprotein 4; FAT; Fatty acid translocase; GPIIIB; GPIV; Glycoprotein IIIb; Leukocyte differentiation antigen CD36; PAS IV; PAS-4; Platelet collagen receptor; Platelet glycoprotein IV; Thrombospondin receptor", "protein_names_refseq": "CD36 antigen (collagen type I receptor, thrombospondin receptor); CD36 molecule (CD36 blood group) transcript; CD36 molecule (thrombospondin receptor); GPIIIB; PAS IV; PAS-4 protein; cluster determinant 36; fatty acid translocase; glycoprotein IIIb; leukocyte differentiation antigen CD36; platelet glycoprotein 4 isoform 1; platelet glycoprotein 4; platelet glycoprotein IV; scavenger receptor class B, member 3", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); atrial fibrillation (Disease Ontology:DOID:0060224); myeloid neoplasm (Disease Ontology:DOID:0070004); platelet-type bleeding disorder 10 (Disease Ontology:DOID:0111046); dermatomyositis (Disease Ontology:DOID:10223); silicosis (Disease Ontology:DOID:10325); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); thrombotic thrombocytopenic purpura (Disease Ontology:DOID:10772); sickle cell anemia (Disease Ontology:DOID:10923); polycystic ovary syndrome (Disease Ontology:DOID:11612); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); granulomatosis with polyangiitis (Disease Ontology:DOID:12132); malaria (Disease Ontology:DOID:12365); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); atherosclerosis (Disease Ontology:DOID:1936); blood platelet disease (Disease Ontology:DOID:2218); essential thrombocythemia (Disease Ontology:DOID:2224); arteriosclerosis (Disease Ontology:DOID:2349); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); nephrosis (Disease Ontology:DOID:2527); endometriosis (Disease Ontology:DOID:289); pulmonary tuberculosis (Disease Ontology:DOID:2957); inclusion body myositis (Disease Ontology:DOID:3429); pulmonary fibrosis (Disease Ontology:DOID:3770); macular degeneration (Disease Ontology:DOID:4448); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844); osteoarthritis (Disease Ontology:DOID:8398); chronic myeloid leukemia (Disease Ontology:DOID:8552); polycythemia vera (Disease Ontology:DOID:8997); pemphigus (Disease Ontology:DOID:9182); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); obsolete Plasmodium falciparum blood infection level (MONDO:MONDO:0009553); coronary heart disease, susceptibility to, 7 (MONDO:MONDO:0012585); malaria, susceptibility to (MONDO:MONDO:0021024)", "pathway": " (hsa:948); (R-HSA-114608); (R-HSA-1236973); (R-HSA-1236974); (R-HSA-166058); (R-HSA-168188); (R-HSA-1989781); (R-HSA-3000471); (R-HSA-381340); (R-HSA-434313); (R-HSA-5602498); (R-HSA-5603041); (R-HSA-5686938); (R-HSA-6785807); (R-HSA-6798695); (R-HSA-9841922)", "pathway_count": 16, "publication_count": 360, "publication_id_list": "10023775;10075656;10103054;10219247;10358769;10364168;10369418;10391209;10425206;10426996;10465784;10490993;10510379;10549626;10558993;10586089;10613822;10734051;10772654;10777541;10835357;10867011;10882139;10890433;10938017;11027271;11058569;11084045;11095972;11104795;11120780;11123271;11237011;11267664;11278437;11278729;11356008;11404481;11463377;11509636;11544529;11668637;11724772;11861652;11872672;11950861;11960013;11960372;11988484;12105195;12110890;12118000;12138091;12138165;12140561;12177166;12213831;12214235;12223527;12242343;12297423;12447441;12447442;12505311;12506336;12582161;12600988;12637671;12651854;12724322;12817025;12829629;12832402;12947091;1310260;1371676;1435334;14625308;14630798;14634100;14712222;14726519;14977973;15067378;15116091;15130092;15242332;15261459;15273253;15282206;15297306;15576377;15584925;15585605;15635043;15677505;15690042;15805299;15850785;15866482;15869882;15919796;15944945;15950906;16007214;16024789;16030018;16048438;16107692;16205632;16213021;16236134;16263699;16276419;16299313;16368683;16380219;16397018;16439361;16451196;16488891;16510571;16540365;16606674;16751103;16754682;16834340;16855214;16878026;16880211;16972786;17011499;17101731;17141195;17351642;17427945;17458857;17485511;17572495;17710648;17726518;17761950;17767165;17876058;17878161;17878374;17890055;17893200;17980149;18070880;18070982;18178856;18243101;18268517;18331591;18353781;18353783;18354232;18438411;18447642;18458151;18540824;18558917;18559343;18644974;18669862;18682599;18692471;18719978;18753675;18780401;18829464;18848529;18931025;18990700;19043829;19088433;19112167;19115207;19124156;19159218;19172745;19185846;19217269;19224918;19237602;19369259;19397496;19471024;19498957;19506249;19509286;19592493;19592497;19710929;19740737;19864601;19934321;20037584;20101261;20110263;20171863;20473308;20485341;20493732;20966070;21102457;21252155;21395585;21606490;21610069;21689689;21730069;21871094;21937440;21994466;22046235;22153078;22205702;22240721;22344226;22383755;22454496;22489132;22693070;22851691;23086340;23090970;23124025;23172665;23239344;23446148;23455323;23555662;23613522;23640497;23650620;23967200;24097101;24190977;24196956;24316379;24583716;2468669;24715725;2473841;24743777;24833748;24840642;25083866;25234944;25548167;25645385;25822988;25880347;26154972;27622074;27667267;27742543;27790215;27862975;28193492;28832583;28855257;29557506;29632711;29741879;29786170;30115681;30429286;30573663;31092671;31154438;31410220;31608988;32125861;32357974;32502341;32958780;32983136;33123756;33214551;33329381;33691108;34525359;35051231;35289036;35580925;37074911;37461827;37938771;38301989;38320455;38619643;38642829;38674354;39107881;39383925;40596516;6457647;7503937;7505064;7510216;7512451;7518447;7529288;7533783;7536797;7678924;7685021;7685352;7688729;7693552;7795521;7796300;7892212;7898939;7907877;8085155;8089108;8325954;8467233;8521497;8521498;8602263;8621622;8643605;8647822;8663118;8668165;8692836;8706692;8770873;8797861;8798390;8816495;8837778;8970730;9008162;9012850;9013879;9065481;9148942;9171241;9211901;9254056;9409200;9430229;9454824;9651359;9723655;9736340;9744270;9748239;9763615;9804763;9822675;9834113;9836620;9874564", "class_list": "", "function": "(Microbial infection) Directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and the internalization of particles independently of TLR signaling., [UniProtKB, PubMed, PubMed, PubMed]; A novel peptide encoded by circ-SLC9A6 promotes lipid dyshomeostasis through the regulation of H4K16ac-mediated CD36 transcription in NAFLD., [RefSeq, PubMed]; Cancer-associated fibroblasts contributed to hepatocellular carcinoma recurrence and metastasis via CD36-mediated fatty-acid metabolic reprogramming., [RefSeq, PubMed]; Genotypic and Allelic Distribution of the CD36 rs1761667 Polymorphism in High-Level Moroccan Athletes: A Pilot Study. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-1268a Regulates Fatty Acid Metabolism by Targeting CD36 in Angiotensin II-induced Heart Failure., [RefSeq, PubMed]; Multifunctional glycoprotein that acts as a receptor for a broad range of ligands. Ligands can be of proteinaceous nature like thrombospondin, fibronectin, collagen or amyloid-beta as well as of lipidic nature such as oxidized low-density lipoprotein (oxLDL), anionic phospholipids, long- and very long-chain fatty acids and bacterial diacylated lipopeptides. They are generally multivalent and can therefore engage multiple receptors simultaneously, the resulting formation of CD36 clusters initiates signal transduction and internalization of receptor-ligand complexes. The dependency on coreceptor signaling is strongly ligand specific. Cellular responses to these ligands are involved in angiogenesis, inflammatory response, fatty acid metabolism, taste and dietary fat processing in the intestine (Probable). Binds long- and very long-chain fatty acids and facilitates their transport into cells, thus participating in muscle lipid utilization, adipose energy storage, and gut fat absorption (By similarity) (PubMed:18353783, PubMed:21395585, PubMed:21610069). Mechanistically, palmitoylated CD36 captures fatty acids on the cell surface, the binding of fatty acids activates downstream kinase LYN, which phosphorylates the palmitoyltransferase ZDHHC5 and inactivates it, resulting in the subsequent depalmitoylation of CD36, a step needed to initiate the endocytic process and delivery of fatty acids into the cell (PubMed:32958780). In the small intestine, plays a role in proximal absorption of dietary fatty acid and cholesterol for optimal chylomicron formation, possibly through the activation of MAPK1/3 (ERK1/2) signaling pathway (By similarity) (PubMed:18753675). Involved in oral fat perception and preferences (PubMed:22240721, PubMed:25822988). Detection into the tongue of long-chain fatty acids leads to a rapid and sustained rise in flux and protein content of pancreatobiliary secretions (By similarity). In taste receptor cells, mediates the induction of an increase in intracellular calcium levels by long-chain fatty acids, leading to the activation of the gustatory neurons in the nucleus of the solitary tract (By similarity). Important factor in both ventromedial hypothalamus neuronal sensing of long-chain fatty acid and the regulation of energy and glucose homeostasis (By similarity). Receptor for thrombospondins, THBS1 and THBS2, mediating their antiangiogenic effects (By similarity). Involved in inducing apoptosis in podocytes in response to elevated free fatty acids, acting together with THBS1 (By similarity). As a coreceptor for TLR4:TLR6 heterodimer, promotes inflammation in monocytes/macrophages. Upon ligand binding, such as oxLDL or amyloid-beta 42, interacts with the heterodimer TLR4:TLR6, the complex is internalized and triggers inflammatory response, leading to NF-kappa-B-dependent production of CXCL1, CXCL2 and CCL9 cytokines, via MYD88 signaling pathway, and CCL5 cytokine, via TICAM1 signaling pathway, as well as IL1B secretion, through the priming and activation of the NLRP3 inflammasome (By similarity) (PubMed:20037584). Selective and nonredundant sensor of microbial diacylated lipopeptide that signal via TLR2:TLR6 heterodimer, this cluster triggers signaling from the cell surface, leading to the NF-kappa-B-dependent production of TNF, via MYD88 signaling pathway and subsequently is targeted to the Golgi in a lipid-raft dependent pathway (By similarity) (PubMed:16880211)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SELENOK-dependent CD36 palmitoylation regulates microglial functions and Abeta phagocytosis., [RefSeq, PubMed]; The protein encoded by this gene is the fourth major glycoprotein of the platelet surface and serves as a receptor for thrombospondin in platelets and various cell lines. Since thrombospondins are widely distributed proteins involved in a variety of adhesive processes, this protein may have important functions as a cell adhesion molecule. It binds to collagen, thrombospondin, anionic phospholipids and oxidized LDL. It directly mediates cytoadherence of Plasmodium falciparum parasitized erythrocytes and it binds long chain fatty acids and may function in the transport and/or as a regulator of fatty acid transport. Mutations in this gene cause platelet glycoprotein deficiency. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 5, "mined_n_glycosites": 4, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 42, "disease_count": 37, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "D9IX66;D9IX67;D9IX68;D9IX69;Q13966;Q16093;Q8TCV7;Q9BPZ8;Q9BQC2;Q9BZM8;Q9BZN3;Q9BZN4;Q9BZN5", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" } ], "go_molecular_function": "GO:0005044 scavenger receptor activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0001540 amyloid-beta binding;GO:0008289 lipid binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:1990379 lipid transport across blood-brain barrier;GO:0098900 regulation of action potential;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006629 lipid metabolic process;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 41.5, "record_id": "P16671-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100110010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75344-1", "uniprot_id": [ { "id": "FKBP6_HUMAN", "url": "https://www.uniprot.org/uniprot/O75344", "type": "external" } ], "mass": 37214.0, "length": 327, "protein_name": "Inactive peptidyl-prolyl cis-trans isomerase FKBP6", "gene_name": "FKBP6", "organism": "Human", "refseq_name": "inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform b", "refseq_ac": [ { "id": "NP_001128683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128683", "type": "external" } ], "gene_names_uniprotkb": "FKBP6; FKBP36", "gene_names_refseq": "FKBP36; FKBP6; SPGF77", "protein_names_uniprotkb": "Inactive peptidyl-prolyl cis-trans isomerase FKBP6; 36 kDa FK506-binding protein; 36 kDa FKBP; FK506-binding protein 6; FKBP-36; FKBP-6; Immunophilin FKBP36; Inactive PPIase FKBP6", "protein_names_refseq": "36 kDa FKBP; FK506 binding protein 6, 36kDa; FK506-binding protein 6; FKBP prolyl isomerase 6; PPIase FKBP6; immunophilin FKBP36; inactive PPIase FKBP6; inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform b; inactive peptidyl-prolyl cis-trans isomerase FKBP6; peptidyl-prolyl cis-trans isomerase FKBP6; rotamase", "tax_id": 9606, "disease": "spermatogenic failure 77 (Disease Ontology:DOID:0070576); male infertility (Disease Ontology:DOID:12336); Williams-Beuren syndrome (Disease Ontology:DOID:1928); carcinoma (Disease Ontology:DOID:305); piebaldism (Disease Ontology:DOID:3263); Waardenburg syndrome (Disease Ontology:DOID:9258)", "pathway": " (hsa:8468); (R-HSA-1221632); (R-HSA-5601884)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "11237011;11673449;15125634;15235794;15770126;16227348;17307919;18529014;18922463;19001379;19146767;20634189;21465557;22233380;23056369;23826142;23980886;24656595;32938616;33141586;34211107;34509645;35051231;36150389;8794855;9008167;9285814;9782077", "class_list": "", "function": "Has an essential role in spermatogenesis (PubMed:36150389). It is required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons (By similarity). Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis (By similarity). May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes (By similarity)., [UniProtKB, PubMed, UniProtKB]; The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans., [RefSeq, PubMed]; The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DXT7;G3V0I2;Q7Z4T4;Q9UDS0", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0051879 Hsp90 protein binding;GO:0005528 FK506 binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0006457 protein folding;GO:0031047 regulatory ncRNA-mediated gene silencing;GO:0034587 piRNA processing", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O75344-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55212-1", "uniprot_id": [ { "id": "CASP6_HUMAN", "url": "https://www.uniprot.org/uniprot/P55212", "type": "external" } ], "mass": 33310.0, "length": 293, "protein_name": "Caspase-6", "gene_name": "CASP6", "organism": "Human", "refseq_name": "caspase-6 isoform alpha precursor", "refseq_ac": [ { "id": "NP_001217", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001217", "type": "external" } ], "gene_names_uniprotkb": "CASP6; MCH2", "gene_names_refseq": "CASP6; CSP-6; MCH2; caspase-6", "protein_names_uniprotkb": "Caspase-6; 3.4.22.59; Apoptotic protease Mch-2; CASP-6; CSP-6; Caspase-6 subunit p10; Caspase-6 subunit p20", "protein_names_refseq": "apoptotic protease MCH-2; caspase 6, apoptosis-related cysteine peptidase; caspase 6, apoptosis-related cysteine protease; caspase-6 isoform alpha precursor; mammalian Ced-3 homologue 2", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); endometritis (Disease Ontology:DOID:1002); prostate carcinoma (Disease Ontology:DOID:10286); Alzheimer's disease (Disease Ontology:DOID:10652); prostatic hypertrophy (Disease Ontology:DOID:11132); status epilepticus (Disease Ontology:DOID:1824); brain ischemia (Disease Ontology:DOID:2316); middle cerebral artery infarction (Disease Ontology:DOID:3525); lung non-small cell carcinoma (Disease Ontology:DOID:3908); ovarian carcinoma (Disease Ontology:DOID:4001); chronic myeloid leukemia (Disease Ontology:DOID:8552)", "pathway": " (hsa:839); (R-HSA-111465); (R-HSA-264870); (R-HSA-352238); (R-HSA-6803207)", "pathway_count": 5, "publication_count": 114, "publication_id_list": "10200466;10393175;10453075;10469173;10490026;10559921;10564664;10823823;10891503;10899937;10973264;11106668;11237011;11278253;11278797;11313965;11390368;11423904;11463840;11559530;11689006;11717445;11741893;11953316;12089322;12107159;12198154;12668660;1373520;14657026;14688482;15073321;15200957;15273717;15580302;16123041;16123779;16135520;16183742;16983089;17284521;17297457;17401638;18155731;18445618;19133298;19694615;20303873;20890311;22433863;22483120;22854598;22858542;23227217;23703390;24556848;25528640;25576301;27032039;27911442;27920218;28154009;28218747;28228285;28832583;28834231;28864531;28904123;29242379;29351928;29437277;29493099;29557506;30420425;30429286;30484775;31844290;31848261;32029622;32157095;32161166;32298652;32350084;32357974;32488085;32938616;33298915;33592498;33968037;34171305;35051231;35580925;35922005;36814103;36882663;37070911;37828624;38967580;7489707;7796396;8242741;8655646;8663580;8900201;8976194;8978814;9252332;9323209;9325343;9431985;9463409;9624143;9930654;9973322", "class_list": "", "function": "(Microbial infection) Proteolytically cleaves the N protein of coronaviruses such as MERS-CoV and SARS-CoV (PubMed:18155731, PubMed:35922005). The cleavage of MERS-CoV N-protein leads to two fragments and modulates coronavirus replication by regulating IFN signaling. The two fragments produced by the cleavage interact with IRF3 inhibiting its nuclear translocation after activation and reduce the expression of IFNB and IFN-stimulated genes (PubMed:35922005). The same mechanism seems to be used by other coronaviruses such as SARS-CoV and SARS-CoV-2 to enhance their replication (PubMed:35922005)., [UniProtKB, PubMed, PubMed]; Caspase 6 promotes innate immune activation by functional crosstalk between RIPK1-IkappaBalpha axis in liver inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Caspase-6 is a key regulator of cross-talk signal way in PANoptosis in cancer. Review article, [RefSeq, PubMed]; Cysteine protease that plays essential roles in programmed cell death, axonal degeneration, development and innate immunity (PubMed:19133298, PubMed:22858542, PubMed:27032039, PubMed:28864531, PubMed:30420425, PubMed:32298652, PubMed:8663580). Acts as a non-canonical executioner caspase during apoptosis: localizes in the nucleus and cleaves the nuclear structural protein NUMA1 and lamin A/LMNA thereby inducing nuclear shrinkage and fragmentation (PubMed:11953316, PubMed:17401638, PubMed:8663580, PubMed:9463409). Lamin-A/LMNA cleavage is required for chromatin condensation and nuclear disassembly during apoptotic execution (PubMed:11953316). Acts as a regulator of liver damage by promoting hepatocyte apoptosis: in absence of phosphorylation by AMP-activated protein kinase (AMPK), catalyzes cleavage of BID, leading to cytochrome c release, thereby participating in nonalcoholic steatohepatitis (PubMed:32029622). Cleaves PARK7/DJ-1 in cells undergoing apoptosis (By similarity). Involved in intrinsic apoptosis by mediating cleavage of RIPK1 (PubMed:22858542). Furthermore, cleaves many transcription factors such as NF-kappa-B and cAMP response element-binding protein/CREBBP (PubMed:10559921, PubMed:14657026). Cleaves phospholipid scramblase proteins XKR4 and XKR9 (By similarity). In addition to apoptosis, involved in different forms of programmed cell death (PubMed:32298652). Plays an essential role in defense against viruses by acting as a central mediator of the ZBP1-mediated pyroptosis, apoptosis, and necroptosis (PANoptosis), independently of its cysteine protease activity (PubMed:32298652). PANoptosis is a unique inflammatory programmed cell death, which provides a molecular scaffold that allows the interactions and activation of machinery required for inflammasome/pyroptosis, apoptosis and necroptosis (PubMed:32298652). Mechanistically, interacts with RIPK3 and enhances the interaction between RIPK3 and ZBP1, leading to ZBP1-mediated inflammasome activation and cell death (PubMed:32298652). Plays an essential role in axon degeneration during axon pruning which is the remodeling of axons during neurogenesis but not apoptosis (By similarity). Regulates B-cell programs both during early development and after antigen stimulation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Dissection of pyroptosis-related prognostic signature and CASP6-mediated regulation in pancreatic adenocarcinoma: new sights to clinical decision-making., [RefSeq, PubMed]; NUAK1 promotes metabolic dysfunction-associated steatohepatitis progression by activating Caspase 6-driven pyroptosis and inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; Role of cited-1 and caspase-6 expression in HELLP syndrome., [RefSeq, PubMed]; This gene encodes a member of the cysteine-aspartic acid protease (caspase) family of enzymes. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic acid residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein is processed by caspases 7, 8 and 10, and is thought to function as a downstream enzyme in the caspase activation cascade. Alternative splicing of this gene results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Oct 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 13, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 11, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9BQE7", "ec_number_list": [ { "id": "3.4.22.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.59", "type": "external" } ], "go_molecular_function": "GO:0042802 identical protein binding;GO:0004197 cysteine-type endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:0006508 proteolysis;GO:0030855 epithelial cell differentiation;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0043525 positive regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P55212-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MAI5-1", "uniprot_id": [ { "id": "CDKL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MAI5", "type": "external" } ], "mass": 43384.0, "length": 379, "protein_name": "Cyclin-dependent kinase-like 4", "gene_name": "CDKL4", "organism": "Human", "refseq_name": "cyclin-dependent kinase-like 4 isoform 2", "refseq_ac": [ { "id": "NP_001009565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009565", "type": "external" } ], "gene_names_uniprotkb": "CDKL4", "gene_names_refseq": "CDKL4", "protein_names_uniprotkb": "Cyclin-dependent kinase-like 4; 2.7.11.22", "protein_names_refseq": "cyclin-dependent kinase-like 4 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:344387)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;17344846;19241098;22898188;23481700;32938616", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2NME9", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0004693 cyclin-dependent protein serine/threonine kinase activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5MAI5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95170-1", "uniprot_id": [ { "id": "CDRT1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95170", "type": "external" } ], "mass": 85370.0, "length": 752, "protein_name": "F-box and WD repeat domain containing protein 10B", "gene_name": "FBXW10B", "organism": "Human", "refseq_name": "F-box and WD repeat domain containing protein 10B isoform a", "refseq_ac": [ { "id": "NP_006373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006373", "type": "external" } ], "gene_names_uniprotkb": "FBXW10B; C17orf1A; C17orf1; CDRT1; HREP", "gene_names_refseq": "C170RF1; C17ORF1A; C17ORF1; CDRT1; FBXW10B; FBXW10P1; HREP; SM25H2", "protein_names_uniprotkb": "F-box and WD repeat domain containing protein 10B; CMT1A duplicated region transcript 1 protein", "protein_names_refseq": "CMT1A duplicated region transcript 1 protein; Charcot-Marie-Tooth duplicated region transcript 1; F-box and WD repeat domain containing 10 pseudogene 1; F-box and WD repeat domain containing protein 10B isoform a; F-box and WD repeat domain containing protein 10B; F-box and WD-40 domain protein 10 pseudogene 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:374286)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;11381029;25892735;31844290;34171305;9403059;9787083", "class_list": "", "function": "Members of the F-box protein family, such as FBXW10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603034), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43848;O95611", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O95170-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13231-1", "uniprot_id": [ { "id": "CHIT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13231", "type": "external" } ], "mass": 51681.0, "length": 466, "protein_name": "Chitotriosidase-1", "gene_name": "CHIT1", "organism": "Human", "refseq_name": "chitotriosidase-1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001243054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243054", "type": "external" } ], "gene_names_uniprotkb": "CHIT1", "gene_names_refseq": "CHI3; CHIT1; CHITD; CHIT", "protein_names_uniprotkb": "Chitotriosidase-1; 3.2.1.14; Chitinase-1", "protein_names_refseq": "chitinase 1 (chitotriosidase); chitotriosidase-1 isoform 2 precursor; plasma methylumbelliferyl tetra-N-acetylchitotetraoside hydrolase", "tax_id": 9606, "disease": "invasive aspergillosis (Disease Ontology:DOID:0050073); idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); leprosy (Disease Ontology:DOID:1024); asbestosis (Disease Ontology:DOID:10320); silicosis (Disease Ontology:DOID:10325); sarcoidosis (Disease Ontology:DOID:11335); allergic disease (Disease Ontology:DOID:1205); aspergillosis (Disease Ontology:DOID:13564); cystic fibrosis (Disease Ontology:DOID:1485); candidiasis (Disease Ontology:DOID:1508); Gaucher's disease (Disease Ontology:DOID:1926); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); interstitial lung disease (Disease Ontology:DOID:3082); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); pulmonary fibrosis (Disease Ontology:DOID:3770); tuberculosis (Disease Ontology:DOID:399); allergic rhinitis (Disease Ontology:DOID:4481); neuromyelitis optica (Disease Ontology:DOID:8869); intrinsic asthma (Disease Ontology:DOID:9360); allergic asthma (Disease Ontology:DOID:9415); bronchiectasis (Disease Ontology:DOID:9563); obsolete Chitotriosidase deficiency (MONDO:MONDO:0013586)", "pathway": " (hsa:1118); (R-HSA-189085); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10769135;11085997;11237011;11960986;12547908;12639956;12692040;14616060;15299664;15664516;16584180;1697585;17464953;18824549;19241384;19435888;19725875;19955176;20356844;23650620;2452973;27452731;29557506;29786170;30459171;30779550;31844290;3227291;34637032;34789899;35051231;35222369;36332693;3800897;3897250;4737205;5104075;6466686;7487100;7592832;7836450;7906143;807575;8692836;8951031;9427547;9446624;9748235", "class_list": "glycogene;glycosylhydrolase", "function": "Cardiopharyngeal deconstruction and ancestral tunicate sessility., [RefSeq, PubMed]; Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2012]., [RefSeq]; Degrades chitin, chitotriose and chitobiose. May participate in the defense against nematodes and other pathogens. Isoform 3 has no enzymatic activity., [UniProtKB, PubMed, PubMed]; Differential Glial Chitotriosidase 1 and Chitinase 3-like Protein 1 Expression in the Human Primary Visual Cortex and Cerebellum after Global Hypoxia-Ischemia., [RefSeq, PubMed]; Increased Plasma YKL-40 Level and Chitotriosidase Activity in Cystic Fibrosis Patients., [RefSeq, PubMed]; Longitudinal and Comparative Measures of Serum Chitotriosidase and YKL-40 in Patients With Idiopathic Pulmonary Fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 642, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 24, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KNW6;J3KN09;Q0VGG5;Q0VGG6;Q3ZAR1;Q6ISC2;Q9H3V8;Q9UDJ8", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "2.7.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.35", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "3.4.23.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.5", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "3.3.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.3.2.6", "type": "external" }, { "id": "3.4.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.4", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "1.4.3.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.22", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.5.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.5", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "5.4.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.2", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "type": "external" } ], "go_molecular_function": "GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds;GO:0004568 chitinase activity;GO:0008843 endochitinase activity;GO:0008061 chitin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005764 lysosome;GO:0035580 specific granule lumen;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:0006955 immune response;GO:0009617 response to bacterium;GO:0044245 polysaccharide digestion;GO:0000272 polysaccharide catabolic process;GO:0006032 chitin catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q13231-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11049-1", "uniprot_id": [ { "id": "CD37_HUMAN", "url": "https://www.uniprot.org/uniprot/P11049", "type": "external" } ], "mass": 31703.0, "length": 281, "protein_name": "Leukocyte antigen CD37", "gene_name": "CD37", "organism": "Human", "refseq_name": "leukocyte antigen CD37 isoform B", "refseq_ac": [ { "id": "NP_001035120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035120", "type": "external" } ], "gene_names_uniprotkb": "CD37; TSPAN26", "gene_names_refseq": "CD37; GP52-40; TSPAN26", "protein_names_uniprotkb": "Leukocyte antigen CD37; Tetraspanin-26; Tspan-26", "protein_names_refseq": "cell differentiation antigen 37; leukocyte antigen CD37 isoform B; leukocyte surface antigen CD37; tetraspanin-26; tspan-26", "tax_id": 9606, "disease": "", "pathway": " (hsa:951)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;17182550;21930792;22624718;24190977;2466944;25502872;25802875;26154972;26375851;26784544;26992070;28063628;28218747;28228285;28467828;28832583;28834231;28871256;28904123;29242379;29314611;29437277;29493099;29557506;29632711;30315122;31366619;31844290;31848261;32157095;32350084;32357974;32387766;32400873;32502341;32983136;33091337;33141586;33298915;33392160;33717175;33912179;33936100;34078123;34357683;34433824;34932366;35051231;35154160;35171311;35251023;35580925;36284347;36581221;38846084", "class_list": "", "function": "CD20 expression regulates CD37 levels in B-cell lymphoma - implications for immunotherapies. Publication Status: Online-Only, [RefSeq, PubMed]; CD37 expression in follicular lymphoma., [RefSeq, PubMed]; CD37 high expression as a potential biomarker and association with poor outcome in acute myeloid leukemia., [RefSeq, PubMed]; From a cohort of 137 primary diffuse large B-cell lymphoma (DLBCL) samples. CD37 mutations were exclusively identified in immune-privileged site-associated DLBCL (IP-DLBCL) cases but absent in non-IP-DLBCL cases. Modeling and functional analysis of CD37 missense mutations revealed loss of function by impaired CD37 protein expression at the plasma membrane of human lymphoma B cells., [RefSeq, PubMed]; Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Participates thereby in diverse biological functions such as cell signal transduction, adhesion, migration and protein trafficking (PubMed:22624718). Upon ligand binding, two signaling pathways are activated, one acting through phosphorylation by LYN leading to cell death or a survival pathway with activation of GSK3B (PubMed:22624718). Plays an essential role essential for clustering of integrin ITGA4/ITGB1 and promotes its mobility in the plasma membrane of B-cells. In turn, participates in ITGA4/ITGB1 integrin-mediated antiapoptotic signaling through AKT (By similarity). Also plays a role in the migration of dendritic cells and neutrophils to draining lymph nodes, as well as in their integrin-mediated adhesion (By similarity). Negatively regulates IL-6 responses through direct interaction with SOCS3 thereby preventing constitutive IL-6 signaling (PubMed:26784544). Alternatively, inhibition of IL-6 signaling can also occur via interaction and stabilization of DECTIN1/CLEC7A at the cell membrane to inhibit its ability to promote the production of IL-6 (PubMed:17182550)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It may play a role in T-cell-B-cell interactions. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DVC1;Q3KPF9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0001772 immunological synapse", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P11049-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYP7-1", "uniprot_id": [ { "id": "WNK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYP7", "type": "external" } ], "mass": 198416.0, "length": 1800, "protein_name": "Serine/threonine-protein kinase WNK3", "gene_name": "WNK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase WNK3 isoform 2", "refseq_ac": [ { "id": "NP_001002838", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002838", "type": "external" } ], "gene_names_uniprotkb": "WNK3; KIAA1566; PRKWNK3", "gene_names_refseq": "MRXS2; PRKWNK3; PRS; WNK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase WNK3; 2.7.11.1; Protein kinase lysine-deficient 3; Protein kinase with no lysine 3", "protein_names_refseq": "Prieto X-linked mental retardation syndrome; protein kinase with no lysine 3; serine/threonine-protein kinase WNK3 isoform 2; serine/threonine-protein kinase WNK3", "tax_id": 9606, "disease": "Prieto syndrome (Disease Ontology:DOID:0060805); pseudohypoaldosteronism (Disease Ontology:DOID:4479)", "pathway": " (hsa:65267); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 138, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11571656;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15194194;15318163;15504734;15505377;15916532;15919655;16219661;16275911;16275913;16357011;16501604;16813530;16849430;16850186;17344846;17381423;17448995;17673510;17699613;17881003;17975670;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;18768590;19153159;19307298;19380724;19387438;19413330;19470686;19620632;19808995;19953639;20305658;20388639;20466723;20525693;20538786;21040849;21406692;21527911;21613606;21740066;21984732;22002868;22773952;22946059;2298749;22989884;23112050;2321095;23616951;23838290;24275569;24715725;2536303;25576301;26154972;26359375;26562072;27846572;28071645;28154142;28657654;28790369;29242379;29331515;29557506;30620550;31154438;31844290;32157095;32314908;33214551;33439774;33592498;33633747;33760209;33968037;34019948;34171305;35051231;35138101;35179207;35580925;35678782;36010968;36284347;36318922;36357569;37541260;38665916;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "A Phosphorylated Intermediate in the Activation of WNK Kinases., [RefSeq, PubMed]; Advances in the study of the role and molecular mechanism of withnolysine kinase 3 in nervous system diseases (Review). Review article, [RefSeq, PubMed]; Serine/threonine-protein kinase component of the WNK3-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis and regulatory volume increase in response to hyperosmotic stress (PubMed:16275911, PubMed:16275913, PubMed:16501604, PubMed:22989884, PubMed:36318922). WNK3 mediates regulatory volume increase in response to hyperosmotic stress by acting as a molecular crowding sensor, which senses cell shrinkage and mediates formation of a membraneless compartment by undergoing liquid-liquid phase separation (PubMed:36318922). The membraneless compartment concentrates WNK3 with its substrates, OXSR1/OSR1 and STK39/SPAK, promoting WNK3-dependent phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK (PubMed:22989884). Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters SLC12A1/NKCC2, SLC12A2/NKCC1, SLC12A3/NCC, SLC12A4/KCC1, SLC12A5/KCC2 or SLC12A6/KCC3, regulating their activity (PubMed:16275911, PubMed:16275913). Phosphorylation of Na-K-Cl cotransporters SLC12A2/NKCC1 and SLC12A2/NKCC1 promote their activation and ion influx; simultaneously, phosphorylation of K-Cl cotransporters SLC12A4/KCC1, SLC12A5/KCC2 and SLC12A6/KCC3 inhibits its activity, blocking ion efflux (PubMed:16275911, PubMed:16275913, PubMed:16357011, PubMed:19470686, PubMed:21613606). Phosphorylates WNK4, possibly regulating the activity of SLC12A3/NCC (PubMed:17975670). May also phosphorylate NEDD4L (PubMed:20525693). Also acts as a scaffold protein independently of its protein kinase activity: negatively regulates cell membrane localization of various transporters and channels, such as KCNJ1 and SLC26A9 (PubMed:16357011, PubMed:17673510). Increases Ca(2+) influx mediated by TRPV5 and TRPV6 by enhancing their membrane expression level via a kinase-dependent pathway (PubMed:18768590)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]., [RefSeq]; WNK3 inhibition elicits antitumor immunity by suppressing PD-L1 expression on tumor cells and activating T-cell function., [RefSeq, PubMed]; WNK3 lies within the critical linkage interval for several human monogenic disorders, including X-linked mental retardation. The function of mammalian WNK3 kinase remains to be investigated., [RefSeq, PubMed]; WNKs are potassium-sensitive kinases., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1AKG2;Q5JRC1;Q6JP76;Q8TCX6;Q9HCK6", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0044325 transmembrane transporter binding;GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005912 adherens junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0090279 regulation of calcium ion import;GO:0007231 osmosensory signaling pathway;GO:0006468 protein phosphorylation;GO:0010800 positive regulation of peptidyl-threonine phosphorylation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9BYP7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15438-1", "uniprot_id": [ { "id": "CYH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15438", "type": "external" } ], "mass": 46413.0, "length": 398, "protein_name": "Cytohesin-1", "gene_name": "CYTH1", "organism": "Human", "refseq_name": "cytohesin-1 isoform 3", "refseq_ac": [ { "id": "NP_001278947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278947", "type": "external" } ], "gene_names_uniprotkb": "CYTH1; D17S811E; PSCD1", "gene_names_refseq": "B2-1; CYTH1; CYTOHESIN-1; D17S811E; PSCD1; SEC7", "protein_names_uniprotkb": "Cytohesin-1; PH, SEC7 and coiled-coil domain-containing protein 1; SEC7 homolog B2-1", "protein_names_refseq": "PH, SEC7 and coiled-coil domain-containing protein 1; SEC7 homolog B2-1; cytoadhesin 1; cytohesin-1 isoform 3; homolog of secretory protein SEC7; pleckstrin homology, Sec7 and coiled-coil domains 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9267); (R-HSA-6811438)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10189370;10652308;10652516;10748148;11237011;11438522;11718716;11748249;11867758;12011112;12383348;12429822;14978097;1511013;15504911;15718469;15728195;15758030;17274799;17398095;18086915;18256213;18451304;19164740;19536132;19715559;20163571;20874812;21807881;22013193;22188167;22424782;23091056;23239882;23378023;23462996;23839779;23936529;23940353;24119662;24366607;24715725;25576301;25708460;25892735;26154972;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29420262;29437277;29557506;29632711;29786170;30315122;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32488085;32502341;32938616;32983136;33141586;33691108;33717175;33936100;33968037;33981976;34171305;34211107;34357683;34561969;34932366;35051231;35318648;35561310;35580925;36241641;36284347;8636227;8945478;9244307;9476900;9510256;9653114;9707577;9915833", "class_list": "", "function": "Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6. Promotes the activation of ARF factors through replacement of GDP with GTP. Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization, through regulation of ARF6 activity., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the PSCD family. Members of this family have identical structural organization that consists of an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family appear to mediate the regulation of protein sorting and membrane trafficking. This gene is highly expressed in natural killer and peripheral T cells, and regulates the adhesiveness of integrins at the plasma membrane of lymphocytes. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NFW7;B7Z1T4;Q9P123;Q9P124", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0030155 regulation of cell adhesion;GO:0016192 vesicle-mediated transport;GO:0090162 establishment of epithelial cell polarity;GO:0032012 regulation of ARF protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q15438-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75838-1", "uniprot_id": [ { "id": "CIB2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75838", "type": "external" } ], "mass": 21644.0, "length": 187, "protein_name": "Calcium and integrin-binding family member 2", "gene_name": "CIB2", "organism": "Human", "refseq_name": "calcium and integrin-binding family member 2 isoform 2", "refseq_ac": [ { "id": "NP_001258817", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258817", "type": "external" } ], "gene_names_uniprotkb": "CIB2; KIP2", "gene_names_refseq": "CIB2; DFNB48; KIP2; USH1J", "protein_names_uniprotkb": "Calcium and integrin-binding family member 2; KIP 2; Kinase-interacting protein 2", "protein_names_refseq": "DNA-dependent protein kinase catalytic subunit-interacting protein 2; calcium and integrin-binding family member 2 isoform 2", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 48 (Disease Ontology:DOID:0110505)", "pathway": " (hsa:10518); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 20, "publication_id_list": "10025409;10821263;11163272;11237011;22779914;23023331;23481700;26173970;26416264;26426422;28663585;29084757;31636333;31844290;32157095;32357974;34089643;35408910;36010968;9931475", "class_list": "", "function": "CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells., [RefSeq, PubMed]; CIB2, as binding partners for the integrin alphaIIb subunit, which suggests that they are potentially involved in regulating integrin alphaIIb subunit activation., [RefSeq, PubMed]; Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Calcium- and integrin-binding protein that plays a role in intracellular calcium homeostasis (By similarity). Acts as an auxiliary subunit of the sensory mechanoelectrical transduction (MET) channel in hair cells (By similarity). Essential for mechanoelectrical transduction (MET) currents in auditory hair cells and thereby required for hearing (By similarity). Regulates the function of hair cell mechanotransduction by controlling the distribution of transmembrane channel-like proteins TMC1 and TMC2, and by regulating the function of the MET channels in hair cells (By similarity). Required for the maintenance of auditory hair cell stereocilia bundle morphology and function and for hair-cell survival in the cochlea (By similarity). Critical for proper photoreceptor cell maintenance and function (By similarity). Plays a role in intracellular calcium homeostasis by decreasing ATP-induced calcium release (PubMed:23023331, PubMed:26173970, PubMed:26426422)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is similar to that of KIP/CIB, calcineurin B, and calmodulin. The encoded protein is a calcium-binding regulatory protein that interacts with DNA-dependent protein kinase catalytic subunits (DNA-PKcs), and it is involved in photoreceptor cell maintenance. Mutations in this gene cause deafness, autosomal recessive, 48 (DFNB48), and also Usher syndrome 1J (USH1J). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDF0;H0YM71;Q05BT6", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005178 integrin binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031594 neuromuscular junction;GO:0072562 blood microparticle;GO:0001917 photoreceptor inner segment;GO:0071944 cell periphery", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0045494 photoreceptor cell maintenance;GO:0055074 calcium ion homeostasis;GO:0071318 cellular response to ATP", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "O75838-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4T8-1", "uniprot_id": [ { "id": "CBR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4T8", "type": "external" } ], "mass": 25301.0, "length": 237, "protein_name": "3-oxoacyl-[acyl-carrier-protein] reductase", "gene_name": "CBR4", "organism": "Human", "refseq_name": "3-oxoacyl-[acyl-carrier-protein] reductase", "refseq_ac": [ { "id": "NP_116172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116172", "type": "external" } ], "gene_names_uniprotkb": "CBR4; SDR45C1", "gene_names_refseq": "CBR4; SDR45C1", "protein_names_uniprotkb": "3-oxoacyl-[acyl-carrier-protein] reductase; 1.1.1.100; 1.6.5.10; 3-ketoacyl-[acyl-carrier-protein] reductase beta subunit; CBR4; Carbonyl reductase family member 4; KAR beta subunit; Quinone reductase CBR4; Short chain dehydrogenase/reductase family 45C member 1", "protein_names_refseq": "3-ketoacyl-[acyl-carrier-protein] reductase beta subunit; 3-oxoacyl-[acyl-carrier-protein] reductase; KAR beta subunit; carbonic reductase 4; carbonyl reductase family member 4; quinone reductase CBR4; short chain dehydrogenase/reductase family 45C member 1", "tax_id": 9606, "disease": "mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:84869); (R-HSA-75105)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "10229681;11237011;12689621;13651131;1371749;15610069;15668256;15907797;16854592;17898086;17978863;18455495;19000905;19571038;20470824;20877624;22102020;22465940;23700546;23932781;24286864;25203508;25418920;26154972;26811146;26992070;27846572;27892461;27893789;27920218;28228285;28832583;28904123;29557506;29769354;31530632;31844290;31848261;32265295;33298915;33592498;33912179;33968037;34357683;35051231;36241641;3805044;5810867;627544;7567999;7732023;7901201;7909540;7916016;9341199", "class_list": "", "function": "CBR4 is a mitochondrial NADPH-dependent reductase for o- and p-quinones., [RefSeq, PubMed]; Component of the heterotetramer complex KAR (3-ketoacyl-[acyl carrier protein] reductase or 3-ketoacyl-[ACP] reductase) that forms part of the mitochondrial fatty acid synthase (mtFAS). Beta-subunit of the KAR heterotetramer complex, responsible for the 3-ketoacyl-ACP reductase activity of the mtFAS, reduces 3-oxoacyl-[ACP] to (3R)-hydroxyacyl-[ACP] in a NADPH-dependent manner with no chain length preference, thereby participating in mitochondrial fatty acid biosynthesis (PubMed:25203508). The homotetramer has NADPH-dependent quinone reductase activity (in vitro), hence could play a role in protection against cytotoxicity of exogenous quinones (PubMed:19000905). As a heterotetramer, it can also reduce 9,10-phenanthrenequinone, 1,4-benzoquinone and various other o-quinones and p-quinones (in vitro) (PubMed:19000905, PubMed:19571038, PubMed:25203508)., [UniProtKB, PubMed, PubMed, PubMed]; Hs17beta-HSD8 and HsCBR4 show a strong genetic interaction in vivo in yeast, where, only if they are expressed together, they rescue the respiratory deficiency and restore the lipoic acid content of oar1Delta cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WTW8;Q96K93", "ec_number_list": [ { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.6.5.10", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.10", "type": "external" }, { "id": "1.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.2", "type": "external" }, { "id": "1.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.100", "type": "external" }, { "id": "1.3.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.39", "type": "external" }, { "id": "2.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.38", "type": "external" }, { "id": "2.3.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.39", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" }, { "id": "2.3.1.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.85", "type": "external" }, { "id": "3.1.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.14", "type": "external" }, { "id": "4.2.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.59", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.n12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.n12", "type": "external" } ], "go_molecular_function": "GO:0048038 quinone binding;GO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;GO:0003955 NAD(P)H dehydrogenase (quinone) activity;GO:0008753 NADPH dehydrogenase (quinone) activity;GO:0070402 NADPH binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:1990204 oxidoreductase complex", "go_biological_process": "GO:0051289 protein homotetramerization;GO:0006633 fatty acid biosynthetic process;GO:0046949 fatty-acyl-CoA biosynthetic process;GO:0051290 protein heterotetramerization;GO:0044597 daunorubicin metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8N4T8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M95-1", "uniprot_id": [ { "id": "CCD42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M95", "type": "external" } ], "mass": 38019.0, "length": 316, "protein_name": "Coiled-coil domain-containing protein 42", "gene_name": "CCDC42", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 42 isoform 2", "refseq_ac": [ { "id": "NP_001151733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001151733", "type": "external" } ], "gene_names_uniprotkb": "CCDC42; CCDC42A", "gene_names_refseq": "CCDC42A; CCDC42", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 42", "protein_names_refseq": "coiled-coil domain-containing protein 42 isoform 2; coiled-coil domain-containing protein 42A", "tax_id": 9606, "disease": "", "pathway": " (hsa:146849)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;24715725;33392160", "class_list": "", "function": "Essential for male fertility. Required for sperm development., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N6Q0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0048471 perinuclear region of cytoplasm;GO:0002177 manchette;GO:0097228 sperm principal piece;GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96M95-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR77-1", "uniprot_id": [ { "id": "CCD77_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR77", "type": "external" } ], "mass": 57486.0, "length": 488, "protein_name": "Coiled-coil domain-containing protein 77", "gene_name": "CCDC77", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 77 isoform b", "refseq_ac": [ { "id": "NP_001123618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123618", "type": "external" } ], "gene_names_uniprotkb": "CCDC77", "gene_names_refseq": "CCDC77", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 77", "protein_names_refseq": "coiled-coil domain-containing protein 77 isoform b; coiled-coil domain-containing protein 77", "tax_id": 9606, "disease": "", "pathway": " (hsa:84318)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;14654843;26992070;27600516;27846572;27920218;28832583;28904123;29242379;29393594;30315122;30779550;30833945;31217245;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32488085;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33936100;33968037;33981976;34171305;34357683;35051231;36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDE8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9BR77-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5ZPR3-1", "uniprot_id": [ { "id": "CD276_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5ZPR3", "type": "external" } ], "mass": 57235.0, "length": 534, "protein_name": "CD276 antigen", "gene_name": "CD276", "organism": "Human", "refseq_name": "CD276 antigen isoform a precursor", "refseq_ac": [ { "id": "NP_001019907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019907", "type": "external" } ], "gene_names_uniprotkb": "CD276; B7H3; PRO352; PSEC0249", "gene_names_refseq": "4Ig-B7-H3; B7-H3; B7H3; B7RP-2; CD276", "protein_names_uniprotkb": "CD276 antigen; 4Ig-B7-H3; B7 homolog 3; B7-H3; Costimulatory molecule", "protein_names_refseq": "B7 homolog 3; CD276 antigen isoform a precursor; CD276 antigen; costimulatory molecule", "tax_id": 9606, "disease": "", "pathway": " (hsa:80381)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11224528;11237011;12055244;12906861;12975309;14764704;15314238;15340161;15682454;15961727;16049332;16274630;16303743;18452278;18650384;18669648;19159218;20068231;23090970;23584533;24190977;24275569;25813380;25880248;26811146;27600516;27920218;28514659;28904123;29391424;29741879;31154438;31222486;31844290;32157095;32357974;32488085;32938616;32983136;33298915;33592498;33912179;33968037;34357683;35051231;35580925;36215666;36284347;37074911;38600002;38665916;38724465;38858715;39173456;39478506", "class_list": "", "function": "A novel structural variant of B7-H3 (named B7-H3b) with four Ig-like domains, is the major isoform expressed in several tissues and results from gene duplication and differential splicing., [RefSeq, PubMed]; B7-H3 and ICAM-1 are potentially therapeutic targets for thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; B7-H3 is widely expressed in soft tissue sarcomas. Publication Status: Online-Only, [RefSeq, PubMed]; B7-H3 promotes the migration and invasion of colorectal cancer cells via regulating the actin cytoskeleton and RhoA/ROCK1/LIMK1 signaling pathway., [RefSeq, PubMed]; CD276 regulates the immune escape of esophageal squamous cell carcinoma through CXCL1-CXCR2 induced NETs. Publication Status: Online-Only, [RefSeq, PubMed]; May participate in the regulation of T-cell-mediated immune response. May play a protective role in tumor cells by inhibiting natural-killer mediated cell lysis as well as a role of marker for detection of neuroblastoma cells. May be involved in the development of acute and chronic transplant rejection and in the regulation of lymphocytic activity at mucosal surfaces. Could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy. Both isoform 1 and isoform 2 appear to be redundant in their ability to modulate CD4 T-cell responses. Isoform 2 is shown to enhance the induction of cytotoxic T-cells and selectively stimulates interferon gamma production in the presence of T-cell receptor signaling., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Pro-cancer role of CD276 as a novel biomarker for clear cell renal cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response. Studies show that while the transcript of this gene is ubiquitously expressed in normal tissues and solid tumors, the protein is preferentially expressed only in tumor tissues. Additionally, it was observed that the 3' UTR of this transcript contains a target site for miR29 microRNA, and there is an inverse correlation between the expression of this protein and miR29 levels, suggesting regulation of expression of this gene product by miR29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 79, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q6P5Y4;Q6UXI2;Q8NBI8;Q8NC34;Q8NCB6;Q9BXR1", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0016020 membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0042110 T cell activation;GO:0050852 T cell receptor signaling pathway;GO:0050776 regulation of immune response;GO:0001817 regulation of cytokine production;GO:0032729 positive regulation of type II interferon production", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q5ZPR3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96ER9-1", "uniprot_id": [ { "id": "MITOK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96ER9", "type": "external" } ], "mass": 45811.0, "length": 411, "protein_name": "Mitochondrial potassium channel", "gene_name": "CCDC51", "organism": "Human", "refseq_name": "mitochondrial potassium channel isoform 1", "refseq_ac": [ { "id": "NP_001243893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243893", "type": "external" } ], "gene_names_uniprotkb": "CCDC51; MITOK", "gene_names_refseq": "CCDC51; MITOK", "protein_names_uniprotkb": "Mitochondrial potassium channel; Coiled-coil domain-containing protein 51; MITOK", "protein_names_refseq": "coiled-coil domain-containing protein 51; mitochondrial potassium channel isoform 1; mitochondrial potassium channel", "tax_id": 9606, "disease": "", "pathway": " (hsa:79714)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;20877624;23186163;24715725;27920218;28063628;28228285;28514659;28904123;29393594;29557506;29632046;29769354;30315122;30379171;30429286;31435016;31844290;32157095;32387766;32502341;32938616;33141586;33912179;33936100;33968037;33981976;34087483;34509645;35051231;36010968;36215666;36241641", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming subunit of the mitochondrial ATP-gated potassium channel (mitoK(ATP)) (PubMed:31435016). Together with ATP-binding subunit ABCB8/MITOSUR of the mitoK(ATP) channel, mediates ATP-dependent K(+) currents across the mitochondrial inner membrane (PubMed:31435016). An increase in ATP intracellular levels closes the channel, inhibiting K(+) transport, whereas a decrease in ATP levels enhances K(+) uptake in the mitochondrial matrix. May contribute to the homeostatic control of cellular metabolism under stress conditions by regulating the mitochondrial matrix volume (PubMed:31435016)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9HA01", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0062156 mitochondrial ATP-gated potassium channel activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0062157 mitochondrial ATP-gated potassium channel complex", "go_biological_process": "GO:0006884 cell volume homeostasis;GO:0071805 potassium ion transmembrane transport;GO:0140141 mitochondrial potassium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q96ER9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "C9J3I9-1", "uniprot_id": [ { "id": "CE058_HUMAN", "url": "https://www.uniprot.org/uniprot/C9J3I9", "type": "external" } ], "mass": 9231.0, "length": 81, "protein_name": "Putative uncharacterized protein C5orf58", "gene_name": "C5orf58", "organism": "Human", "refseq_name": "putative uncharacterized protein C5orf58", "refseq_ac": [ { "id": "NP_001096079", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096079", "type": "external" } ], "gene_names_uniprotkb": "C5orf58", "gene_names_refseq": "C5orf58", "protein_names_uniprotkb": "Putative uncharacterized protein C5orf58", "protein_names_refseq": "putative uncharacterized protein C5orf58", "tax_id": 9606, "disease": "", "pathway": " (hsa:133874)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "C9J3I9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14689-1", "uniprot_id": [ { "id": "DIP2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14689", "type": "external" } ], "mass": 170369.0, "length": 1571, "protein_name": "Disco-interacting protein 2 homolog A", "gene_name": "DIP2A", "organism": "Human", "refseq_name": "disco-interacting protein 2 homolog A isoform f", "refseq_ac": [ { "id": "NP_001139587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139587", "type": "external" } ], "gene_names_uniprotkb": "DIP2A; C21orf106; DIP2; KIAA0184", "gene_names_refseq": "C21orf106; DIP2A; DIP2", "protein_names_uniprotkb": "Disco-interacting protein 2 homolog A; 6.2.1.1; DIP2 homolog A", "protein_names_refseq": "DIP2 disco-interacting protein 2 homolog A; DIP2 homolog A; disco interacting protein 2 homolog A; disco-interacting protein 2 homolog A isoform f; disco-interacting protein 2A; disconnected interacting protein 2 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:23181)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;12036298;20054002;20860622;21993680;22424782;23186163;23481700;24714562;24715725;25576301;25645385;26154972;26375851;26992070;27543614;27600516;27846572;27862975;27920218;28121444;28228285;28514659;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29786170;30059200;30315122;30429286;30524438;30779550;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34405274;34509645;35051231;35580925;36010968;36241641;36284347;37897975;37938771;39531497", "class_list": "", "function": "Catalyzes the de novo synthesis of acetyl-CoA in vitro (By similarity). Promotes acetylation of CTTN, possibly by providing the acetyl donor, ensuring correct dendritic spine morphology and synaptic transmission (By similarity). Binds to follistatin-related protein FSTL1 and may act as a cell surface receptor for FSTL1, contributing to AKT activation and subsequent FSTL1-induced survival and function of endothelial cells and cardiac myocytes (PubMed:20054002)., [UniProtKB, UniProtKB, PubMed]; Disco interacting protein 2 homolog A (DIP2A): A key component in the regulation of brain disorders. Review article, [RefSeq, PubMed]; The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6P4T3;B4E0F0;E7EMA5;Q8IVA3;Q8N4S2;Q8TD89;Q96ML9", "ec_number_list": [ { "id": "6.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.1", "type": "external" }, { "id": "6.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.17", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" } ], "go_molecular_function": "GO:0003987 acetate-CoA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0043197 dendritic spine", "go_biological_process": "GO:0010629 negative regulation of gene expression;GO:0006085 acetyl-CoA biosynthetic process;GO:0060997 dendritic spine morphogenesis;GO:2000758 positive regulation of peptidyl-lysine acetylation;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q14689-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C221-1", "uniprot_id": [ { "id": "CC175_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C221", "type": "external" } ], "mass": 93626.0, "length": 793, "protein_name": "Coiled-coil domain-containing protein 175", "gene_name": "CCDC175", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 175", "refseq_ac": [ { "id": "NP_001157871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157871", "type": "external" } ], "gene_names_uniprotkb": "CCDC175; C14orf38", "gene_names_refseq": "C14orf38; CCDC175; c14_5395", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 175", "protein_names_refseq": "coiled-coil domain-containing protein 175", "tax_id": 9606, "disease": "", "pathway": " (hsa:729665)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;23481700;28228285;32387766;34019948;35051231;36490268", "class_list": "", "function": "The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3V5J7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P0C221-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q569K6-1", "uniprot_id": [ { "id": "CC157_HUMAN", "url": "https://www.uniprot.org/uniprot/Q569K6", "type": "external" } ], "mass": 83941.0, "length": 752, "protein_name": "Coiled-coil domain-containing protein 157", "gene_name": "CCDC157", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 157 isoform 1", "refseq_ac": [ { "id": "NP_001017437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017437", "type": "external" } ], "gene_names_uniprotkb": "CCDC157; KIAA1656", "gene_names_refseq": "CCDC157", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 157", "protein_names_refseq": "coiled-coil domain-containing protein 157 isoform 1; coiled-coil domain-containing protein 157", "tax_id": 9606, "disease": "oligoasthenoteratozoospermia (Disease Ontology:DOID:0070311)", "pathway": " (hsa:550631)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;11258795;18477386;23481700;29557506;31488582;35051231;35494241;38509755;39894887", "class_list": "", "function": "CCDC157 is essential for sperm differentiation and shows oligoasthenoteratozoospermia-related mutations in men., [RefSeq, PubMed]; The CCDC157 is localized along the secretory pathway and was found to interact with resident proteins of ER-Golgi membranes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0VD76;Q9BYA4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q569K6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EE4-1", "uniprot_id": [ { "id": "CC126_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EE4", "type": "external" } ], "mass": 15668.0, "length": 140, "protein_name": "Coiled-coil domain-containing protein 126", "gene_name": "CCDC126", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 126 precursor", "refseq_ac": [ { "id": "NP_620126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620126", "type": "external" } ], "gene_names_uniprotkb": "CCDC126; PRO1605", "gene_names_refseq": "CCDC126", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 126", "protein_names_refseq": "coiled-coil domain-containing protein 126 precursor; coiled-coil domain-containing protein 126", "tax_id": 9606, "disease": "", "pathway": " (hsa:90693)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;12975309;24190977;29242379;29485866;29632711;31154438;32350084;32357974;33298915;33537174;33592498;34357683;35154160;35251023", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K1J6;Q6UWP1;Q75MQ6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q96EE4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXS4-1", "uniprot_id": [ { "id": "CCGL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXS4", "type": "external" } ], "mass": 20932.0, "length": 190, "protein_name": "Voltage-dependent calcium channel gamma-like subunit", "gene_name": "TMEM37", "organism": "Human", "refseq_name": "voltage-dependent calcium channel gamma-like subunit", "refseq_ac": [ { "id": "NP_899063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_899063", "type": "external" } ], "gene_names_uniprotkb": "TMEM37; PR", "gene_names_refseq": "PR1; PR; TMEM37", "protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-like subunit; Neuronal voltage-gated calcium channel gamma-like subunit; Transmembrane protein 37", "protein_names_refseq": "neuronal voltage-gated calcium channel gamma-like subunit; voltage-dependent calcium channel gamma subunit-like protein; voltage-dependent calcium channel gamma-like subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:140738)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;11738816;29557506;30429286;31154438;35580925", "class_list": "", "function": "Thought to stabilize the calcium channel in an inactivated (closed) state. Modulates calcium current when coexpressed with CACNA1G (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005262 calcium channel activity;GO:0005244 voltage-gated monoatomic ion channel activity", "go_cellular_component": "GO:0034702 monoatomic ion channel complex;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8WXS4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15085-1", "uniprot_id": [ { "id": "CBPA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P15085", "type": "external" } ], "mass": 47140.0, "length": 419, "protein_name": "Carboxypeptidase A1", "gene_name": "CPA1", "organism": "Human", "refseq_name": "carboxypeptidase A1 preproprotein", "refseq_ac": [ { "id": "NP_001859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001859", "type": "external" } ], "gene_names_uniprotkb": "CPA1; CPA", "gene_names_refseq": "CPA1; CPA", "protein_names_uniprotkb": "Carboxypeptidase A1; 3.4.17.1", "protein_names_refseq": "carboxypeptidase A1 (pancreatic); carboxypeptidase A1 preproprotein; pancreatic carboxypeptidase A", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); dengue hemorrhagic fever (Disease Ontology:DOID:12206); urinary schistosomiasis (Disease Ontology:DOID:1394); pulmonary tuberculosis (Disease Ontology:DOID:2957); pancreatitis (Disease Ontology:DOID:4989)", "pathway": " (hsa:1357); (R-HSA-9925561)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "11237011;1417781;18566513;19179285;1969228;20385563;2307232;23746805;26758079;28228285;2920728;29557506;31844290;32387766;34509645;34817877;34889867;36284347;36555104;8318831;8806703", "class_list": "", "function": "Carboxypeptidase A1 (CPA1) Immunohistochemistry Is Highly Sensitive and Specific for Acinar Cell Carcinoma (ACC) of the Pancreas., [RefSeq, PubMed]; Carboxypeptidase that catalyzes the release of a C-terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro (PubMed:20385563, PubMed:8806703). Catalyzes the conversion of leukotriene C4 to leukotriene F4 via the hydrolysis of an amide bond (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Endoplasmic stress-inducing variants in CPB1 and CPA1 and risk of pancreatic cancer: A case-control study and meta-analysis., [RefSeq, PubMed]; Novel p.G250A Mutation Associated with Chronic Pancreatitis Highlights Misfolding-Prone Region in Carboxypeptidase A1 (CPA1). Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D1M1;Q53XU0;Q9BS67;Q9UCF2", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "3.4.21.70", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.70", "type": "external" }, { "id": "3.4.17.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.1", "type": "external" }, { "id": "3.4.17.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.2", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.17.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.15", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "2.1.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.20", "type": "external" }, { "id": "3.4.21.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.2", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004181 metallocarboxypeptidase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis;GO:0046686 response to cadmium ion;GO:0006691 leukotriene metabolic process;GO:0051603 proteolysis involved in protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P15085-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBI5-1", "uniprot_id": [ { "id": "CEP15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBI5", "type": "external" } ], "mass": 15007.0, "length": 128, "protein_name": "Centrosomal protein 15", "gene_name": "CEP15", "organism": "Human", "refseq_name": "centrosomal protein 15 isoform a", "refseq_ac": [ { "id": "NP_001278870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278870", "type": "external" } ], "gene_names_uniprotkb": "CEP15; C3orf14; HT021", "gene_names_refseq": "C3orf14; CEP15; HT021", "protein_names_uniprotkb": "Centrosomal protein 15; Centrosomal protein 15 kDa", "protein_names_refseq": "centrosomal protein 15 isoform a; centrosomal protein 15 kDa; uncharacterized protein C3orf14", "tax_id": 9606, "disease": "", "pathway": " (hsa:57415)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "10931946;11237011;20112406;24714562;25576301;26992070;28228285;28832583;29242379;29393594;29557506;29632046;29786170;29789417;30315122;30429286;31154438;31844290;32157095;32387766;32488085;32938616;32983136;33141586;33392160;33592498;33968037;34087483;34171305;34185709;35051231;35580925;36284347;37938771", "class_list": "", "function": "May play a role in ciliary assembly., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9U0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9HBI5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0P6D6-1", "uniprot_id": [ { "id": "CCD15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0P6D6", "type": "external" } ], "mass": 110484.0, "length": 951, "protein_name": "Coiled-coil domain-containing protein 15", "gene_name": "CCDC15", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 15", "refseq_ac": [ { "id": "NP_079280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079280", "type": "external" } ], "gene_names_uniprotkb": "CCDC15", "gene_names_refseq": "CCDC15", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 15", "protein_names_refseq": "coiled-coil domain-containing protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:80071)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;23033978;23481700;24715725;25576301;26154972;26992070;28228285;28832583;28834231;29508533;29557506;31092671;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33298915;33968037;35051231;35580925;36241641;37934472", "class_list": "", "function": "CCDC15 localizes to the centriole inner scaffold and controls centriole length and integrity., [RefSeq, PubMed]; Plays an important role in primary cilium assembly, maintenance, and length regulation. Interacts with centriole inner scaffold proteins to promote proper centriole size and integrity and assembly of functional cilia. Required for the recruitment of both the inner scaffold protein POC1B and the distal SFI1/CETN2 complex to centrioles., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9H8U7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole;GO:0034451 centriolar satellite", "go_biological_process": "GO:0060271 cilium assembly;GO:1903724 positive regulation of centriole elongation", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q0P6D6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTX7-1", "uniprot_id": [ { "id": "CAST1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTX7", "type": "external" } ], "mass": 36275.0, "length": 329, "protein_name": "Cytosolic arginine sensor for mTORC1 subunit 1", "gene_name": "CASTOR1", "organism": "Human", "refseq_name": "cytosolic arginine sensor for mTORC1 subunit 1", "refseq_ac": [ { "id": "NP_001032755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032755", "type": "external" } ], "gene_names_uniprotkb": "CASTOR1; GATSL3", "gene_names_refseq": "CASTOR1; GATSL3", "protein_names_uniprotkb": "Cytosolic arginine sensor for mTORC1 subunit 1; Cellular arginine sensor for mTORC1 protein 1; GATS-like protein 3", "protein_names_refseq": "GATS protein like 3; GATS-like protein 3; cellular arginine sensor for mTORC1 protein 1; cytosolic arginine sensor for mTORC1 subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:652968); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11237011;15854902;15878852;16098514;17470430;18477386;18497260;18604198;20381137;22053050;22575674;22980980;23723238;24081491;24095279;24449572;25259925;25263562;25457612;25561175;25567906;25819761;26449471;26586190;26972053;27308486;27487210;27648300;28066558;28199306;28199315;29053970;29056322;29123071;29236692;30061680;30181260;30429286;30651352;30956113;31659101;31844290;32161166;32387766;33594058;33968037;34171305;35580925;36215666;7499430", "class_list": "", "function": "Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway (PubMed:26972053, PubMed:27487210, PubMed:33594058). As a homodimer or a heterodimer with CASTOR2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1 (PubMed:26972053, PubMed:27487210, PubMed:33594058). Binding of arginine to CASTOR1 allosterically disrupts the interaction of CASTOR1-containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway (PubMed:26972053, PubMed:27487210, PubMed:33594058)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; RNF167 activates mTORC1 and promotes tumorigenesis by targeting CASTOR1 for ubiquitination and degradation. Publication Status: Online-Only, [RefSeq, PubMed]; Study establishes the CASTOR1 homodimer and CASTOR1-CASTOR2 heterodimer as arginine sensors for the mTORC1 pathway., [RefSeq, PubMed]; The binding free energy calculations revealed that Nalpha-acetyl-arginine, citrulline, and norarginine have sufficient binding affinity with CASTOR1 to compete with arginine. The hydrogen bond analysis revealed that norarginine, Nalpha-acetyl-arginine and D-arginine have proficient H-bonds that can facilitate their entering the narrow binding pocket., [RefSeq, PubMed]; This genome wide association study identified a new rheumatoid arthritis susceptibility locus mapping to 22q12 in the GATSL3 gene., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 26, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O76052;Q96ND9;Q9UIE8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0034618 arginine binding;GO:0140299 molecular sensor activity;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0034198 cellular response to amino acid starvation;GO:1903577 cellular response to L-arginine;GO:1904262 negative regulation of TORC1 signaling", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q8WTX7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PB1-1", "uniprot_id": [ { "id": "CASD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PB1", "type": "external" } ], "mass": 91680.0, "length": 797, "protein_name": "N-acetylneuraminate (7)9-O-acetyltransferase", "gene_name": "CASD1", "organism": "Human", "refseq_name": "N-acetylneuraminate (7)9-O-acetyltransferase isoform 1", "refseq_ac": [ { "id": "NP_075051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075051", "type": "external" } ], "gene_names_uniprotkb": "CASD1; C7orf12; Nbla04196", "gene_names_refseq": "C7orf12; CASD1; Cas1p; Cas1; NBLA04196; SOAT", "protein_names_uniprotkb": "N-acetylneuraminate (7)9-O-acetyltransferase; 2.3.1.45; CAS1 domain-containing protein 1; CAS1 protein; Cas1p; SOAT; Sialate O-acetyltransferase", "protein_names_refseq": "CAS1 domain containing 1; CAS1 domain-containing protein 1; Capsule synthesis 1; N-acetylneuraminate (7)9-O-acetyltransferase isoform 1; N-acetylneuraminate (7)9-O-acetyltransferase; N-acetylneuraminate 9-O-acetyltransferase; O-acetyltransferase; WUGSC:H_GS542D18.2; sialate O-acetyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:64921)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12486096;12880961;20947662;21507905;24190977;25576301;25892735;26154972;26169044;27600516;27846572;28228285;28834231;29557506;29632711;29741879;29769354;30315122;31844290;32350084;32357974;32938616;33298915;33717175;34208013;34357683;35580925;37074911", "class_list": "", "function": "CASD1 is a sialate O-acetyltransferase and serves as key enzyme in the biosynthesis of 9-O-acetylated sialoglycans. Publication Status: Online-Only, [RefSeq, PubMed]; Human Cas1 protein is directly involved in O-acetylation of alpha2-8-linked sialic acids, [RefSeq, PubMed]; Key enzyme in the biosynthesis of O-acetylated (O-Ac) sialoglycans such as gangliosides O-AcGD3 and O-AcGD2, which affect various processes such as cell-cell interactions, host-pathogen recognition (PubMed:20947662, PubMed:26169044, PubMed:34208013). Catalyzes the transfer of an acetyl group from a donor, the acetyl-coenzyme-A molecule (acetyl-CoA), to the C7/8/9 OH-position of a sialic acid residue (PubMed:20947662, PubMed:26169044). The primary site of O-acetyl group transfer on sialic acid seems to depend on cell type and can be C7, from which the O-acetyl group could subsequently migrate to the C8 and then to the C9 position, or at C9 with possibility of migrating to the C8 and then to the C7 position (PubMed:20947662, PubMed:26169044). Together with ST8SIA1 (GD3 synthase) it increases the levels of ganglioside Ac-O-7-GD3 (PubMed:20947662). Can transfer the acetyl group from acetyl-CoA to free sialate (N-acetylneuraminate, Neu5Ac) in vitro, but has preferred substrate specificity for CMP-activated sialate (CMP-Neu5Ac), resulting in the formation of 9-O-acetylated CMP-Neu5Ac (CMP-Neu5,9Ac2) (PubMed:26169044). CMP-Neu5,9Ac2 may be used by sialyltransferases as a sialate donor for glycoconjugate acceptors such as ganglioside GD3 (PubMed:26169044). O-acetylation at position C9 of ganglioside GD3 can counteract the pro-apoptotic effects of the ganglioside GD3 in tumor cells (PubMed:12486096)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KW13;O14574;Q3LIE2;Q6P4R4;Q9H6T9;Q9H770", "ec_number_list": [ { "id": "2.3.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.45", "type": "external" } ], "go_molecular_function": "GO:0047186 N-acetylneuraminate 9-O-acetyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q96PB1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08185-1", "uniprot_id": [ { "id": "CBG_HUMAN", "url": "https://www.uniprot.org/uniprot/P08185", "type": "external" } ], "mass": 45141.0, "length": 405, "protein_name": "Corticosteroid-binding globulin", "gene_name": "SERPINA6", "organism": "Human", "refseq_name": "corticosteroid-binding globulin precursor", "refseq_ac": [ { "id": "NP_001747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001747", "type": "external" } ], "gene_names_uniprotkb": "SERPINA6; CBG", "gene_names_refseq": "CBG; SERPINA6", "protein_names_uniprotkb": "Corticosteroid-binding globulin; CBG; Serpin A6; Transcortin", "protein_names_refseq": "corticosteroid-binding globulin precursor; corticosteroid-binding globulin; serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6; serpin A6; serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6; transcortin", "tax_id": 9606, "disease": "corticosteroid-binding globulin deficiency (Disease Ontology:DOID:0090030); alpha 1-antitrypsin deficiency (Disease Ontology:DOID:13372)", "pathway": " (hsa:866); (R-HSA-194002); (R-HSA-9757110)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10484077;10634411;10665657;10673364;10729196;11237011;11504826;11902585;12379510;12466373;12604685;12673034;12832414;1352877;1356264;1359686;14661924;14760718;1504007;15175422;15472518;15904907;16335952;17200165;17245537;18282684;18513745;1885595;19159218;1944309;19447222;1968359;19862647;20190787;20583968;20621639;21490593;21875666;22344233;2243100;23063411;23090970;24279413;2570070;25800201;26208431;2639662;27411675;2770297;27726376;28132103;2876781;2889032;2898143;29391424;29557506;29671580;29741879;30137266;30237853;3038528;30459171;31701669;32350084;32387766;32981041;3299377;33085168;33091337;33469137;3347061;3386241;33968037;3472246;34725484;3487786;35051231;35217314;3593903;37074911;3709632;37745713;38042488;38253038;6492791;7073761;7195404;7195405;7310640;7400951;7588203;7865904;8212073;9543163;9652413;9816258", "class_list": "", "function": "Major transport protein for glucocorticoids and progestins in the blood of almost all vertebrate species., [UniProtKB, PubMed]; Plasma cortisol-linked gene networks in hepatic and adipose tissues implicate corticosteroid-binding globulin in modulating tissue glucocorticoid action and cardiovascular risk. Publication Status: Online-Only, [RefSeq, PubMed]; Position-specific N- and O-glycosylation of the reactive center loop impacts neutrophil elastase-mediated proteolysis of corticosteroid-binding globulin., [RefSeq, PubMed]; Pyrexia and acidosis act independently of neutrophil elastase reactive center loop cleavage to effect cortisol release from corticosteroid-binding globulin., [RefSeq, PubMed]; Stress-related genetic components in attention-deficit/hyperactivity disorder (ADHD): Effects of the SERPINA6 and SERPINA1 genetic markers in a family-based brazilian sample., [RefSeq, PubMed]; This gene encodes an alpha-globulin protein with corticosteroid-binding properties. This is the major transport protein for glucorticoids and progestins in the blood of most vertebrates. The gene localizes to a chromosomal region containing several closely related serine protease inhibitors which may have evolved by duplication events. [provided by RefSeq, Jul 2008]., [RefSeq]; Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 79, "disease_count": 2, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A8K456;Q7Z2Q9", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005496 steroid binding;GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006704 glucocorticoid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "P08185-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y646-1", "uniprot_id": [ { "id": "CBPQ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y646", "type": "external" } ], "mass": 51888.0, "length": 472, "protein_name": "Carboxypeptidase Q", "gene_name": "CPQ", "organism": "Human", "refseq_name": "carboxypeptidase Q preproprotein", "refseq_ac": [ { "id": "NP_057218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057218", "type": "external" } ], "gene_names_uniprotkb": "CPQ; LCH1; PGCP", "gene_names_refseq": "CPQ; LDP; PGCP", "protein_names_uniprotkb": "Carboxypeptidase Q; 3.4.17.-; Lysosomal dipeptidase; Plasma glutamate carboxypeptidase", "protein_names_refseq": "Ser-Met dipeptidase; aminopeptidase; blood plasma glutamate carboxypeptidase; carboxypeptidase Q preproprotein; lysosomal dipeptidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:10404)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;10206990;11237011;12591738;12675526;16303743;16335952;17074750;17214548;19159218;19664994;20201926;20802479;22898188;23090970;24190977;25576301;25645385;26992070;27543614;27600516;27806330;27846572;29196255;29242379;29391424;29557506;29632711;29741879;29786170;29789417;30429286;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32983136;33141586;33392160;33537174;33592498;33968037;33981976;34087483;34405274;34509645;35051231;35251023;35318648;35580925;36010968;36215666;36284347;37074911;37938771;38665916", "class_list": "", "function": "Carboxypeptidase that may play an important role in the hydrolysis of circulating peptides. Catalyzes the hydrolysis of dipeptides with unsubstituted terminals into amino acids. May play a role in the liberation of thyroxine hormone from its thyroglobulin (Tg) precursor., [UniProtKB, UniProtKB, UniProtKB]; Data provide evidence that PGCP promoter hypermethylation is associated with human bronchial epithelial cells immortalization and lung cancer., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; PGCP negatively associates with Wnt/beta-catenin signaling during metastasis. Targeting this regulation may represent a novel and effective therapeutic option for liver cancer by preventing metastatic activity of primary tumor cells., [RefSeq, PubMed]; This gene encodes a metallopeptidase that belongs to the peptidase M28 family. The encoded protein may catalyze the cleavage of dipeptides with unsubstituted terminals into amino acids. [provided by RefSeq, Jul 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 84, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RD88;Q8NBZ1;Q9UNM8;Q9Y5X6", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0004180 carboxypeptidase activity;GO:0070573 metallodipeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0043171 peptide catabolic process;GO:0042246 tissue regeneration;GO:0006590 thyroid hormone generation", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q9Y646-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC90-1", "uniprot_id": [ { "id": "CCER1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC90", "type": "external" } ], "mass": 46482.0, "length": 406, "protein_name": "Coiled-coil domain-containing glutamate-rich protein 1", "gene_name": "CCER1", "organism": "Human", "refseq_name": "coiled-coil domain-containing glutamate-rich protein 1", "refseq_ac": [ { "id": "NP_689851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689851", "type": "external" } ], "gene_names_uniprotkb": "CCER1; C12orf12", "gene_names_refseq": "C12orf12; CCER1", "protein_names_uniprotkb": "Coiled-coil domain-containing glutamate-rich protein 1", "protein_names_refseq": "coiled-coil domain-containing glutamate-rich protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:196477)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;38081819", "class_list": "", "function": "Phase-separated CCER1 coordinates the histone-to-protamine transition and male fertility. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of histone epigenetic modifications and chromatin compaction into the sperm head, required for histone-to-protamine (HTP) transition. HTP is a key event in which somatic histones are first replaced by testis-specific histone variants, then transition proteins (TNPs) are incorporated into the spermatid nucleus, and finally protamines (PRMs) replace the TNPs to promote chromatin condensation., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8TC47", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0007283 spermatogenesis;GO:0035092 sperm DNA condensation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8TC90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4VC31-1", "uniprot_id": [ { "id": "MIX23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4VC31", "type": "external" } ], "mass": 16620.0, "length": 144, "protein_name": "Protein MIX23", "gene_name": "MIX23", "organism": "Human", "refseq_name": "protein MIX23 isoform 1", "refseq_ac": [ { "id": "NP_001017928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017928", "type": "external" } ], "gene_names_uniprotkb": "MIX23; CCDC58", "gene_names_refseq": "CCDC58; MIX23", "protein_names_uniprotkb": "Protein MIX23; Coiled-coil domain-containing protein 58", "protein_names_refseq": "coiled-coil domain containing 58; coiled-coil domain-containing protein 58; protein MIX23 isoform 1; protein MIX23", "tax_id": 9606, "disease": "", "pathway": " (hsa:131076)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;18991276;19608861;20877624;21872626;24714562;24715725;26375851;26992070;27846572;27920218;28218747;28228285;28510447;28832583;29437277;29493099;29508533;29557506;30315122;30410026;30484775;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33298915;33912179;33968037;33981976;34087483;34171305;34357683;34405274;34509645;35051231;35580925;36010968;36215666;38066393;38609450", "class_list": "", "function": "CCDC58 is a potential biomarker for diagnosis, prognosis, immunity, and genomic heterogeneity in pan-cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive pan-cancer analysis reveals CCDC58 as a carcinogenic factor related to immune infiltration., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32LY6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q4VC31-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUD4-1", "uniprot_id": [ { "id": "CCD12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUD4", "type": "external" } ], "mass": 19181.0, "length": 166, "protein_name": "Coiled-coil domain-containing protein 12", "gene_name": "CCDC12", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 12 isoform 2", "refseq_ac": [ { "id": "NP_001264003", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264003", "type": "external" } ], "gene_names_uniprotkb": "CCDC12", "gene_names_refseq": "CCDC12", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 12", "protein_names_refseq": "coiled-coil domain-containing protein 12 isoform 2; coiled-coil domain-containing protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:151903); (R-HSA-72163)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17095540;17332742;17606899;18322460;18593880;18669648;19103666;19165350;19536130;19748539;20423332;20980672;21536652;2176635;22110043;22269669;22365833;22617051;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;24196718;24304693;24448447;24714562;24715725;24737827;24914973;25555158;2558966;25645385;26154972;26385511;26420826;26728094;26969736;27120998;27377154;27459055;27683217;27846572;27920218;28062851;28076346;28446606;28502770;28781166;28832583;29242379;29301961;29360106;29361316;29393594;29508533;29557506;29632711;2963332;29786170;30315122;30315277;30429286;30705154;30728453;30765414;30975767;31154438;31409651;31530632;31844290;31848261;31998317;32157095;32161166;32179686;32329775;32488085;32494006;32502341;32938616;32983136;33141586;33243851;33298915;33446560;33592498;33936100;33968037;34019948;34171305;34211107;34301950;34822310;34932366;35051231;35318648;35385551;35580925;36284347;37217939;3757028;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "CCDC12 is a new participant that promotes early erythroid differentiation., [RefSeq, PubMed]; It was suggested that rs1076394 served as an expression Quantitative Trait Loci (eQTL) for gene CCDC12 and NME6, while NME6's expression was obviously higher in colorectal cancer tissues. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N8I4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0071014 post-mRNA release spliceosomal complex;GO:0005684 U2-type spliceosomal complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q8WUD4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2F9-1", "uniprot_id": [ { "id": "CCD68_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2F9", "type": "external" } ], "mass": 38869.0, "length": 335, "protein_name": "Coiled-coil domain-containing protein 68", "gene_name": "CCDC68", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 68", "refseq_ac": [ { "id": "NP_001137301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137301", "type": "external" } ], "gene_names_uniprotkb": "CCDC68", "gene_names_refseq": "CCDC68; SE57-1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 68; CTCL-associated antigen se57-1; Cutaneous T-cell lymphoma-associated antigen se57-1", "protein_names_refseq": "CTCL tumor antigen se57-1; CTCL-associated antigen se57-1; coiled-coil domain-containing protein 68; cutaneous T-cell lymphoma associated antigen; cutaneous T-cell lymphoma-associated antigen se57-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80323)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11149944;11237011;15142679;18452278;27862975;28422092;28832583;30484775;31844290;32157095;32938616;33471616;33968037;35051231;39018254", "class_list": "", "function": "CCDC68 Maintains Mitotic Checkpoint Activation by Promoting CDC20 Integration into the MCC., [RefSeq, PubMed]; CCDC68 Upregulation by IL-6 Promotes Endometrial Carcinoma Progression., [RefSeq, PubMed]; Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092)., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9I3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005814 centriole;GO:0120103 centriolar subdistal appendage", "go_biological_process": "GO:0008104 intracellular protein localization;GO:0034454 microtubule anchoring at centrosome", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9H2F9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96F63-1", "uniprot_id": [ { "id": "CCD97_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96F63", "type": "external" } ], "mass": 38947.0, "length": 343, "protein_name": "Coiled-coil domain-containing protein 97", "gene_name": "CCDC97", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 97 isoform 1", "refseq_ac": [ { "id": "NP_443080", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443080", "type": "external" } ], "gene_names_uniprotkb": "CCDC97", "gene_names_refseq": "CCDC97", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 97", "protein_names_refseq": "coiled-coil domain-containing protein 97 isoform 1; coiled-coil domain-containing protein 97", "tax_id": 9606, "disease": "", "pathway": " (hsa:90324)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;17081983;18452278;18669648;19413330;19651622;19664994;19690332;19692168;20068231;21406692;23301498;25418920;25880248;26154972;26344197;26811146;26992070;27920218;28228285;28649982;28832583;28834231;29242379;29393594;29508533;29557506;29786170;30192525;30315122;30429286;31844290;32157095;32357974;32502341;32938616;33912179;33968037;34087483;34932366;35580925;36010968;36284347;40914422", "class_list": "", "function": "May play a role pre-mRNA splicing through the association with the splicing factor SF3B complex which is involved in branch-site recognition., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q658N6;Q96IF3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96F63-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CT7-1", "uniprot_id": [ { "id": "CC124_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CT7", "type": "external" } ], "mass": 25835.0, "length": 223, "protein_name": "Coiled-coil domain-containing protein 124", "gene_name": "CCDC124", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 124", "refseq_ac": [ { "id": "NP_001129675", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129675", "type": "external" } ], "gene_names_uniprotkb": "CCDC124", "gene_names_refseq": "CCDC124; Lso2; oxs1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 124", "protein_names_refseq": "coiled-coil domain-containing protein 124", "tax_id": 9606, "disease": "", "pathway": " (hsa:115098)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "11237011;17287340;18212344;18707149;19901323;20068231;20112406;22706990;23186163;23481700;23894443;24715725;25418920;25576301;25810538;26154972;26375851;26811146;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30429286;30524438;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32387766;32502341;32687489;32938616;32983136;33141586;33298915;33896821;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34369007;34561969;35051231;35580925;36284347;39009911", "class_list": "", "function": "Ccdc124 is a novel factor operating both for proper progression of late cytokinetic stages in eukaryotes. Publication Status: Online-Only, [RefSeq, PubMed]; Coiled-coil domain-containing protein-124 (Ccdc124) is a novel RNA binding factor up-regulated in endometrial, ovarian, and urinary bladder cancers., [RefSeq, PubMed]; Dimerization underlies the aggregation propensity of intrinsically disordered coiled-coil domain-containing 124., [RefSeq, PubMed]; Live Cell Protein Imaging of Tandem Complemented-GFP11-Tagged Coiled-Coil Domain-Containing Protein-124 Identifies this Factor in G3BP1-Induced Stress-Granules., [RefSeq, PubMed]; Ribosome-binding protein involved in ribosome hibernation: associates with translationally inactive ribosomes and stabilizes the nonrotated conformation of the 80S ribosome, thereby promoting ribosome preservation and storage (PubMed:32687489). Also required for proper progression of late cytokinetic stages (PubMed:23894443)., [UniProtKB, PubMed, PubMed]; Structure and function of yeast Lso2 and human CCDC124 bound to hibernating ribosomes. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030496 midbody", "go_biological_process": "GO:0051301 cell division;GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q96CT7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08311-1", "uniprot_id": [ { "id": "CATG_HUMAN", "url": "https://www.uniprot.org/uniprot/P08311", "type": "external" } ], "mass": 28837.0, "length": 255, "protein_name": "Cathepsin G", "gene_name": "CTSG", "organism": "Human", "refseq_name": "cathepsin G preproprotein", "refseq_ac": [ { "id": "NP_001902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001902", "type": "external" } ], "gene_names_uniprotkb": "CTSG", "gene_names_refseq": "CATG; CG; CTSG", "protein_names_uniprotkb": "Cathepsin G; 3.4.21.20; CG", "protein_names_refseq": "cathepsin G preproprotein", "tax_id": 9606, "disease": "aspiration pneumonia (Disease Ontology:DOID:0050152); metabolic acidosis (Disease Ontology:DOID:0050758); obstructive sleep apnea (Disease Ontology:DOID:0050848); atrial fibrillation (Disease Ontology:DOID:0060224); childhood-onset asthma (Disease Ontology:DOID:0080815); aortic atherosclerosis (Disease Ontology:DOID:10230); retinitis pigmentosa (Disease Ontology:DOID:10584); primary open angle glaucoma (Disease Ontology:DOID:1070); kidney failure (Disease Ontology:DOID:1074); portal hypertension (Disease Ontology:DOID:10762); hypertension (Disease Ontology:DOID:10763); intracranial aneurysm (Disease Ontology:DOID:10941); nephritis (Disease Ontology:DOID:10952); adult respiratory distress syndrome (Disease Ontology:DOID:11394); heart disease (Disease Ontology:DOID:114); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); Behcet's disease (Disease Ontology:DOID:13241); low tension glaucoma (Disease Ontology:DOID:13544); angle-closure glaucoma (Disease Ontology:DOID:13550); exfoliation syndrome (Disease Ontology:DOID:13641); cystic fibrosis (Disease Ontology:DOID:1485); neovascular glaucoma (Disease Ontology:DOID:1687); impotence (Disease Ontology:DOID:1875); optic nerve disease (Disease Ontology:DOID:1891); hypogonadism (Disease Ontology:DOID:1924); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); renal artery disease (Disease Ontology:DOID:2388); nephrosis (Disease Ontology:DOID:2527); bronchiolitis obliterans (Disease Ontology:DOID:2799); asthma (Disease Ontology:DOID:2841); membranoproliferative glomerulonephritis (Disease Ontology:DOID:2920); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); coronary artery disease (Disease Ontology:DOID:3393); pulmonary fibrosis (Disease Ontology:DOID:3770); ovarian carcinoma (Disease Ontology:DOID:4001); systemic scleroderma (Disease Ontology:DOID:418); coronary stenosis (Disease Ontology:DOID:4248); uremia (Disease Ontology:DOID:4676); liver cirrhosis (Disease Ontology:DOID:5082); ureteral obstruction (Disease Ontology:DOID:5199); retinal detachment (Disease Ontology:DOID:5327); pneumonia (Disease Ontology:DOID:552); myocardial infarction (Disease Ontology:DOID:5844); anterolateral myocardial infarction (Disease Ontology:DOID:5845); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); chronic rhinitis (Disease Ontology:DOID:8252); intermediate coronary syndrome (Disease Ontology:DOID:8805); diabetic retinopathy (Disease Ontology:DOID:8947); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); hepatopulmonary syndrome (Disease Ontology:DOID:900); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); neovascular inflammatory vitreoretinopathy (Disease Ontology:DOID:9719); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1511); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-2022377); (R-HSA-381426); (R-HSA-448706); (R-HSA-6798695); (R-HSA-6803157); (R-HSA-9635465); (R-HSA-9660826)", "pathway_count": 10, "publication_count": 336, "publication_id_list": "10026136;10077652;10218588;10229672;10386589;10512690;10536878;10614670;10681634;10702240;10706100;10809722;10810289;10898936;10899625;10912521;10924499;10951195;10969042;10986281;10990447;11120840;11158056;11250653;11259672;11264294;11313357;11313366;11316783;11375993;11389039;11502696;11522292;11606061;11739083;11751371;11788658;11815627;11830519;11872628;11942800;11971875;12045255;12241545;12379487;12466191;12493837;12540854;12727852;12810533;12843408;12904166;12927775;1311314;1370451;1371271;13816;1383255;1390635;14506276;14739326;14747736;1480033;14973287;15100291;15126567;15210802;1522221;15229136;15234972;15283675;15308688;15385470;15469690;15485880;15525596;15591058;15642270;15741158;1574116;15778384;15826377;15956276;15958533;16054449;16133547;16215847;16336202;16354652;16354654;16374474;1649600;16631740;1668266;16790432;16799473;16825321;16931762;16940129;16963625;1698775;17047378;1707285;17138938;17249697;17312271;17332331;17354228;17363965;17502600;17567961;17608959;17641058;17704566;1783204;17964057;17985932;18021746;18160480;18185531;18217133;18434311;1848554;1851160;18586676;1861080;18658137;18673279;1869557;19010778;19095652;19179970;19254208;1937776;19571574;19657146;19714641;19800993;19818633;20103720;20142769;20180804;20380117;20382864;20395631;20454556;20510021;20845358;20889553;21030783;2116408;2117044;2126324;21297635;21441952;2159879;21670566;2169257;2176865;21784848;21787330;21864727;22159414;22193701;22262861;22275911;22307629;22327069;22455996;2266130;2269296;22701042;22879591;23035980;23302724;23426625;23446738;23650620;23817414;2383548;2383557;23845380;23878142;24141856;24219363;24256734;2443571;24715725;2476804;2479552;2501794;25075772;25161283;25187516;25211214;25461571;2546891;2551898;25576336;2557753;2558510;25596890;2569462;25780035;26091039;26116704;26148048;26274980;26992070;2708524;27089320;27698396;2846041;29077095;29557506;29652924;29789417;3017438;30379171;30429286;30524438;3058116;30804664;31154438;31611695;31848261;32144329;32157095;32303641;32387766;3286634;32983136;32995850;3304423;33141586;33392160;3390156;34171305;34509645;35051231;35462067;35580925;36215666;36284347;36736422;37074911;37151875;37269950;3799965;383475;38362707;38677729;39098536;39357873;4216367;4289389;4322712;4330891;4360430;6263256;6269175;6270633;6303766;6807977;7075587;7499346;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7547873;7588299;7669817;7683646;7689487;7744748;7746327;7780967;7826345;7842483;7890645;7896811;7897245;7961933;7980644;7981201;8015608;8044845;8194591;8194606;8226919;8314771;8454293;8530478;8576151;8621565;8626565;8645182;8663255;8692836;8781553;8804434;8817670;8894645;8896442;8920993;8964575;8999548;9000539;9065415;9111081;9115292;9121587;9148753;9169443;9261109;9346290;9422744;9461298;9497324;9523110;9536127;9570564;9578462;9632662;9665269;9709957;9733769;9756476;9786878;9852107;9922210", "class_list": "", "function": "(Microbial infection) Inhibited reversibly by S.aureus serine protease inhibitors Eap, EapH1 and EapH2, impairing microbicidal activity in neutrophils., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; CTSG Suppresses Colorectal Cancer Progression through Negative Regulation of Akt/mTOR/Bcl2 Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Cathepsin G is an antimicrobial protein with bacteriocidal activity against S. aureus and N. gonorrhoeae., [RefSeq, PubMed]; Cathepsin G promotes arteriovenous fistula maturation by positively regulating the MMP2/MMP9 pathway., [RefSeq, PubMed]; Cathepsin G-induced malignant progression of MCF-7 cells involves suppression of PAF signaling through induced expression of PAFAH1B2., [RefSeq, PubMed]; Investigation of Genetic Association Between a High Activity Variant of Cathepsin G and Risk for Basal Cell Carcinoma., [RefSeq, PubMed]; Physics-Based Protein Networks Might Recover Effectful Mutations horizontal line a Case Study on Cathepsin G., [RefSeq, PubMed]; Serine protease with trypsin- and chymotrypsin-like specificity (PubMed:29652924, PubMed:8194606). Also displays antibacterial activity against Gram-negative and Gram-positive bacteria independent of its protease activity (PubMed:2116408, PubMed:2117044). Prefers Phe and Tyr residues in the P1 position of substrates but also cleaves efficiently after Trp and Leu (PubMed:29652924). Shows a preference for negatively charged amino acids in the P2' position and for aliphatic amino acids both upstream and downstream of the cleavage site (PubMed:29652924). Required for recruitment and activation of platelets which is mediated by the F2RL3/PAR4 platelet receptor (PubMed:10702240, PubMed:3390156). Binds reversibly to and stimulates B cells and CD4(+) and CD8(+) T cells (PubMed:7842483, PubMed:9000539). Also binds reversibly to natural killer (NK) cells and enhances NK cell cytotoxicity through its protease activity (PubMed:9000539, PubMed:9536127). Cleaves complement C3 (PubMed:1861080). Cleaves vimentin (By similarity). Cleaves thrombin receptor F2R/PAR1 and acts as either an agonist or an inhibitor, depending on the F2R cleavage site (PubMed:10702240, PubMed:7744748). Cleavage of F2R at '41-Arg-|-Ser-42' results in receptor activation while cleavage at '55-Phe-|-Trp-56' results in inhibition of receptor activation (PubMed:7744748). Cleaves the synovial mucin-type protein PRG4/lubricin (PubMed:32144329). Cleaves and activates IL36G which promotes expression of chemokines CXCL1 and CXLC8 in keratinocytes (PubMed:30804664). Cleaves IL33 into mature forms which have greater activity than the unprocessed form (PubMed:22307629). Cleaves coagulation factor F8 to produce a partially activated form (PubMed:18217133). Also cleaves and activates coagulation factor F10 (PubMed:8920993). Cleaves leukocyte cell surface protein SPN/CD43 to release its extracellular domain and trigger its intramembrane proteolysis by gamma-secretase, releasing the CD43 cytoplasmic tail chain (CD43-ct) which translocates to the nucleus (PubMed:18586676). Cleaves CCL5/RANTES to produce RANTES(4-68) lacking the N-terminal three amino acids which exhibits reduced chemotactic and antiviral activities (PubMed:16963625). During apoptosis, cleaves SMARCA2/BRM to produce a 160 kDa cleavage product which localizes to the cytosol (PubMed:11259672). Cleaves myelin basic protein MBP in B cell lysosomes at '224-Phe-|-Lys-225' and '248-Phe-|-Ser-249', degrading the major immunogenic MBP epitope and preventing the activation of MBP-specific autoreactive T cells (PubMed:15100291). Cleaves annexin ANXA1 and antimicrobial peptide CAMP to produce peptides which act on neutrophil N-formyl peptide receptors to enhance the release of CXCL2 (PubMed:22879591). Acts as a ligand for the N-formyl peptide receptor FPR1, enhancing phagocyte chemotaxis (PubMed:15210802). Has antibacterial activity against the Gram-negative bacteria N.gonorrhoeae and P.aeruginosa (PubMed:1937776, PubMed:2116408). Likely to act against N.gonorrhoeae by interacting with N.gonorrhoeae penA/PBP2 (PubMed:2126324). Exhibits potent antimicrobial activity against the Gram-positive bacterium L.monocytogenes (PubMed:2117044). Has antibacterial activity against the Gram-positive bacterium S.aureus and degrades S.aureus biofilms, allowing polymorphonuclear leukocytes to penetrate the biofilm and phagocytose bacteria (PubMed:2117044, PubMed:32995850). Has antibacterial activity against M.tuberculosis (PubMed:15385470). Mediates CASP4 activation induced by the Td92 surface protein of the periodontal pathogen T.denticola, causing production and secretion of IL1A and leading to pyroptosis of gingival fibroblasts (PubMed:29077095). Induces platelet aggregation which is strongly potentiated in the presence of ELANE (PubMed:25211214, PubMed:9111081)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene, a member of the peptidase S1 protein family, is found in azurophil granules of neutrophilic polymorphonuclear leukocytes. The encoded protease has a specificity similar to that of chymotrypsin C, and may participate in the killing and digestion of engulfed pathogens, and in connective tissue remodeling at sites of inflammation. In addition, the encoded protein is antimicrobial, with bacteriocidal activity against S. aureus and N. gonorrhoeae. Transcript variants utilizing alternative polyadenylation signals exist for this gene. [provided by RefSeq, Sep 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 61, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IBJ6;Q9UCA5;Q9UCU6", "ec_number_list": [ { "id": "4.6.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.19", "type": "external" }, { "id": "3.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.24", "type": "external" }, { "id": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "type": "external" }, { "id": "3.4.21.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.34", "type": "external" }, { "id": "3.4.24.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.7", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.11.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.2.2", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.22", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.2.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.52", "type": "external" }, { "id": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "4.6.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.18", "type": "external" }, { "id": "3.4.16.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.5", "type": "external" }, { "id": "3.4.16.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.-", "type": "external" }, { "id": "2.4.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.1", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.1.6.8", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.8", "type": "external" }, { "id": "3.1.6.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.14", "type": "external" }, { "id": "3.1.6.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.12", "type": "external" }, { "id": "3.2.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.23", "type": "external" }, { "id": "3.4.21.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.1", "type": "external" }, { "id": "3.4.21.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.35", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.1.1.205", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.205", "type": "external" }, { "id": "3.5.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.21.39", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.39", "type": "external" }, { "id": "3.4.21.76", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.76", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "3.4.22.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.36", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.6.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.4", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.8", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.17", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "3.4.21.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.59", "type": "external" }, { "id": "6.3.4.21", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.21", "type": "external" }, { "id": "1.8.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.-", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "5.3.99.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.3", "type": "external" }, { "id": "3.5.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.4", "type": "external" }, { "id": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.5.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.15", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008201 heparin binding;GO:0008233 peptidase activity;GO:0048018 receptor ligand activity;GO:0089720 caspase binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0006955 immune response;GO:0016485 protein processing;GO:0019731 antibacterial humoral response;GO:0022617 extracellular matrix disassembly", "synthesized_glycan_count": 0, "hit_score": 34.6, "record_id": "P08311-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CE67-1", "uniprot_id": [ { "id": "CC079_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CE67", "type": "external" } ], "mass": 11337.0, "length": 100, "protein_name": "Putative uncharacterized protein encoded by LINC02877", "gene_name": "LINC02877", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02877; C3orf79", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC02877", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0CE67-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20138-1", "uniprot_id": [ { "id": "CD33_HUMAN", "url": "https://www.uniprot.org/uniprot/P20138", "type": "external" } ], "mass": 39825.0, "length": 364, "protein_name": "Myeloid cell surface antigen CD33", "gene_name": "CD33", "organism": "Human", "refseq_name": "myeloid cell surface antigen CD33 isoform 2", "refseq_ac": [ { "id": "NP_001076087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076087", "type": "external" } ], "gene_names_uniprotkb": "CD33; SIGLEC3", "gene_names_refseq": "CD33rSiglec; CD33; SIGLEC-3; SIGLEC3; p67", "protein_names_uniprotkb": "Myeloid cell surface antigen CD33; Sialic acid-binding Ig-like lectin 3; Siglec-3; gp67", "protein_names_refseq": "CD33 antigen (gp67); CD33 molecule transcript; myeloid cell surface antigen CD33 isoform 2; myeloid cell surface antigen CD33; sialic acid-binding Ig-like lectin 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:945); (R-HSA-198933); (R-HSA-6798695); (R-HSA-9918485)", "pathway_count": 4, "publication_count": 142, "publication_id_list": "10.1038/emboj.2013.79;10206955;10499918;10556798;10611343;10746781;10887109;11237011;11265639;11320212;11337487;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11943481;11955593;11955595;11955599;12213321;12483297;12588680;12682107;14702039;14719373;14970179;15034010;15057824;15098107;15136729;15155468;15187158;15304001;15489334;15507651;15534202;15541655;15580655;15597323;15607800;15778510;15781451;15800062;15838506;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;1696442;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18266465;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23084921;23584533;23650620;23658209;23695528;23929856;24074594;24190977;24305946;24715725;25703557;25716998;26056282;26212330;26284469;26300885;26468529;27832191;28325905;28467828;28747436;29610346;29742433;30459171;31369984;3139766;31611695;31720911;32350084;32357974;32387766;32532067;32983136;33582190;33592498;33720433;34034609;34060491;34188106;35251023;36831269;37074911;37081561;37217939;37479176;37506557;37519183;7505004;7531291;7542404;7718872;8178173;8454872;8692836;8702538;8995416;9285412;9314561;9700512;9730896;9931503", "class_list": "glycogene", "function": "Alzheimer's Disease-Associated Alternative Splicing of CD33 Is Regulated by the HNRNPA Family Proteins. Publication Status: Online-Only, [RefSeq, PubMed]; CD33 as a leukocyte-associated marker expressed on human spermatozoa. Publication Status: Online-Only, [RefSeq, PubMed]; CD33 polymorphisms and Parkinson's disease Parkinson's disease in northern Chinese Han population: A case-control study., [RefSeq, PubMed]; Lack of Association between CD33 rs3865444 and Amyotrophic Lateral Sclerosis: A Case-Control Study., [RefSeq, PubMed]; Plasma proteomic profiling identifies CD33 as a marker of HIV control in natural infection and after therapeutic vaccination., [RefSeq, PubMed]; Sialic-acid-binding immunoglobulin-like lectin (Siglec) that plays a role in mediating cell-cell interactions and in maintaining immune cells in a resting state (PubMed:10611343, PubMed:11320212, PubMed:15597323). Preferentially recognizes and binds alpha-2,3- and more avidly alpha-2,6-linked sialic acid-bearing glycans (PubMed:7718872). Upon engagement of ligands such as C1q or syalylated glycoproteins, two immunoreceptor tyrosine-based inhibitory motifs (ITIMs) located in CD33 cytoplasmic tail are phosphorylated by Src-like kinases such as LCK (PubMed:10887109, PubMed:28325905). These phosphorylations provide docking sites for the recruitment and activation of protein-tyrosine phosphatases PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10206955, PubMed:10556798, PubMed:10887109). In turn, these phosphatases regulate downstream pathways through dephosphorylation of signaling molecules (PubMed:10206955, PubMed:10887109). One of the repressive effect of CD33 on monocyte activation requires phosphoinositide 3-kinase/PI3K (PubMed:15597323)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 5, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 549, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B4E3P8;C9JEN7;F8WAL2;Q8TD24", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0033691 sialic acid binding;GO:0019903 protein phosphatase binding;GO:0008160 protein tyrosine phosphatase activator activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0035579 specific granule membrane", "go_biological_process": "GO:0038094 Fc-gamma receptor signaling pathway;GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "P20138-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25445-1", "uniprot_id": [ { "id": "TNR6_HUMAN", "url": "https://www.uniprot.org/uniprot/P25445", "type": "external" } ], "mass": 37732.0, "length": 335, "protein_name": "Tumor necrosis factor receptor superfamily member 6", "gene_name": "FAS", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 6 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000034", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000034", "type": "external" } ], "gene_names_uniprotkb": "FAS; APT1; FAS1; TNFRSF6", "gene_names_refseq": "ALPS1A; APO-1; APT1; CD95; FAS1; FASTM; FAS; TNFRSF6", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 6; Apo-1 antigen; Apoptosis-mediating surface antigen FAS; FASLG receptor", "protein_names_refseq": "APO-1 cell surface antigen; CD95 antigen; FASLG receptor; Fas (TNF receptor superfamily, member 6); Fas AMA; TNF receptor superfamily member 6; apoptosis antigen 1; apoptosis signaling receptor FAS; apoptosis-mediating surface antigen FAS; mutant tumor necrosis receptor superfamily member 6; tumor necrosis factor receptor superfamily member 6 isoform 1 precursor; tumor necrosis factor receptor superfamily, member 6", "tax_id": 9606, "disease": "adult T-cell leukemia/lymphoma (Disease Ontology:DOID:0050523); chorioamnionitis (Disease Ontology:DOID:0050697); myelodysplastic syndrome (Disease Ontology:DOID:0050908); pre-malignant neoplasm (Disease Ontology:DOID:0060071); brain glioma (Disease Ontology:DOID:0060108); lymphoproliferative syndrome (Disease Ontology:DOID:0060704); alcohol-associated liver disease (Disease Ontology:DOID:0070658); nasal type extranodal NK/T-cell lymphoma (Disease Ontology:DOID:0080797); graft-versus-host disease (Disease Ontology:DOID:0081267); dermatomyositis (Disease Ontology:DOID:10223); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); gastric ulcer (Disease Ontology:DOID:10808); urinary bladder cancer (Disease Ontology:DOID:11054); cryptorchidism (Disease Ontology:DOID:11383); sciatic neuropathy (Disease Ontology:DOID:11446); diabetic angiopathy (Disease Ontology:DOID:11713); primary biliary cholangitis (Disease Ontology:DOID:12236); male infertility (Disease Ontology:DOID:12336); varicocele (Disease Ontology:DOID:12337); alcoholic hepatitis (Disease Ontology:DOID:12351); Graves' disease (Disease Ontology:DOID:12361); aplastic anemia (Disease Ontology:DOID:12449); Huntington's disease (Disease Ontology:DOID:12858); Sjogren's syndrome (Disease Ontology:DOID:12894); dilated cardiomyopathy (Disease Ontology:DOID:12930); HELLP syndrome (Disease Ontology:DOID:13133); Behcet's disease (Disease Ontology:DOID:13241); clonorchiasis (Disease Ontology:DOID:13767); abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); Parkinson's disease (Disease Ontology:DOID:14330); cystic fibrosis (Disease Ontology:DOID:1485); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); melanoma (Disease Ontology:DOID:1909); atherosclerosis (Disease Ontology:DOID:1936); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); ovarian cancer (Disease Ontology:DOID:2394); chronic conjunctivitis (Disease Ontology:DOID:2475); transitional cell carcinoma (Disease Ontology:DOID:2671); asthma (Disease Ontology:DOID:2841); IgA glomerulonephritis (Disease Ontology:DOID:2986); acute kidney failure (Disease Ontology:DOID:3021); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); peripheral vascular disease (Disease Ontology:DOID:341); inclusion body myositis (Disease Ontology:DOID:3429); breast carcinoma (Disease Ontology:DOID:3459); mixed connective tissue disease (Disease Ontology:DOID:3492); lung adenocarcinoma (Disease Ontology:DOID:3910); liver disease (Disease Ontology:DOID:409); myasthenia gravis (Disease Ontology:DOID:437); seminoma (Disease Ontology:DOID:4440); macular degeneration (Disease Ontology:DOID:4448); renal cell carcinoma (Disease Ontology:DOID:4450); endophthalmitis (Disease Ontology:DOID:4692); multiple system atrophy (Disease Ontology:DOID:4752); esophagus adenocarcinoma (Disease Ontology:DOID:4914); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); retinal detachment (Disease Ontology:DOID:5327); congestive heart failure (Disease Ontology:DOID:6000); autoimmune lymphoproliferative syndrome (Disease Ontology:DOID:6688); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687); rheumatoid arthritis (Disease Ontology:DOID:7148); retinoblastoma (Disease Ontology:DOID:768); cataract (Disease Ontology:DOID:83); chronic myeloid leukemia (Disease Ontology:DOID:8552); infectious mononucleosis (Disease Ontology:DOID:8568); ulcerative colitis (Disease Ontology:DOID:8577); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); systemic lupus erythematosus (Disease Ontology:DOID:9074); acute myeloid leukemia (Disease Ontology:DOID:9119); Barrett's esophagus (Disease Ontology:DOID:9206); ocular hypertension (Disease Ontology:DOID:9282); type 1 diabetes mellitus (Disease Ontology:DOID:9744); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:355); (R-HSA-140534); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-6803211); (R-HSA-69416); (R-HSA-75157)", "pathway_count": 8, "publication_count": 138, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10090885;10340403;10515860;10535980;10542291;10620127;10777207;10837247;10894160;11237011;11382926;11384965;11418480;11463813;11717445;11786908;12181749;12198154;12215447;12620239;12620240;12887920;12912912;1375228;14623878;14759258;15024054;15289308;15289496;15465831;15760909;15769996;15814722;16108814;16230375;1713127;17195092;17336828;18190721;18256533;18485876;18669648;18691976;18838202;18846110;19118384;19159218;19278658;19416807;19524512;19524513;19615968;19651622;19683492;20068231;20218968;20308068;20353938;20682655;20696707;20935634;20951169;21109225;21235526;21737330;22171320;22265413;22421439;22817896;23365256;23584533;23955153;24059293;24190977;24275569;24316671;24366607;24703947;24813885;24914971;25301068;25502872;25645385;25813380;25880248;26378048;27846572;29557506;29681455;29930286;30459171;30979585;31844290;32157095;32269263;32350084;32357974;32561730;32938616;33141586;33298915;33592498;33936100;34078123;34357683;35154160;37074911;38215192;38593227;38977346;39213362;7530336;7533181;7536190;7538908;7540117;7566179;7575433;8521815;8598453;8648105;8681376;8929361;8967952;9028321;9028957;9159204;9184224;9322534;9326928;9721089;9787134;9821419;9880531;9927496", "class_list": "", "function": "A review of alternative spliced APO-1 variants and their possible biological roles. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Advanced multiparametric image spectroscopy and super-resolution microscopy reveal a minimal model of CD95 signal initiation., [RefSeq, PubMed]; Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells., [RefSeq, PubMed]; Receptor for TNFSF6/FASLG. The adapter molecule FADD recruits caspase CASP8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs CASP8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. FAS-mediated apoptosis may have a role in the induction of peripheral tolerance, in the antigen-stimulated suicide of mature T-cells, or both. The secreted isoforms 2 to 6 block apoptosis (in vitro)., [UniProtKB, PubMed, PubMed, PubMed]; Somatic mutations in FAS pathway increase hemophagocytic lymphohistiocytosis risk in patients with T- and/or NK-cell lymphoma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]., [RefSeq]; [Porphyromonas gingivalis infection facilitates immune escape of esophageal cancer by enhancing YTHDF2-mediated Fas degradation]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 32, "disease_count": 84, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "A9UJX4;B6VNV4;Q14292;Q14293;Q14294;Q14295;Q16652;Q5T9P1;Q5T9P2;Q5T9P3;Q6SSE9", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0042802 identical protein binding;GO:0019900 kinase binding;GO:0005031 tumor necrosis factor receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0045121 membrane raft;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "P25445-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28906-1", "uniprot_id": [ { "id": "CD34_HUMAN", "url": "https://www.uniprot.org/uniprot/P28906", "type": "external" } ], "mass": 40716.0, "length": 385, "protein_name": "Hematopoietic progenitor cell antigen CD34", "gene_name": "CD34", "organism": "Human", "refseq_name": "hematopoietic progenitor cell antigen CD34 isoform a precursor", "refseq_ac": [ { "id": "NP_001020280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020280", "type": "external" } ], "gene_names_uniprotkb": "CD34", "gene_names_refseq": "CD34", "protein_names_uniprotkb": "Hematopoietic progenitor cell antigen CD34", "protein_names_refseq": "CD34 antigen; CD34 sialomucin; hematopoietic progenitor cell antigen CD34 isoform a precursor; hematopoietic progenitor cell antigen CD34", "tax_id": 9606, "disease": "thyroid gland carcinoma (Disease Ontology:DOID:3963); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:947)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;1370171;1374051;1694174;21499536;23090970;2462139;26401918;29557506;29741879;30429286;30459171;31154438;31844290;32157095;35051231;37074911;37625828;38153414;38173016;39041618;39313278;7678811", "class_list": "glycogene", "function": "C-type Lectin Domain Family 4 Member G (CLEC4G) Is a Negative Marker for CD34 in the Evolution of Liver Pathogenesis., [RefSeq, PubMed]; Expression of CD31, CD34, and smooth muscle actin (SMA) in endothelial cells of dental pulp vessels. Publication Status: Online-Only, [RefSeq, PubMed]; Extracellular vesicle-derived TP53BP1, CD34, and PBX1 from human peripheral blood serve as potential biomarkers for the assessment and prediction of vascular aging. Publication Status: Online-Only, [RefSeq, PubMed]; Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins., [UniProtKB]; Role of CD34 in calcification of human aortic valve interstitial cells from patients with aortic valve stenosis., [RefSeq, PubMed]; The protein encoded by this gene may play a role in the attachment of stem cells to the bone marrow extracellular matrix or to stromal cells. This single-pass membrane protein is highly glycosylated and phosphorylated by protein kinase C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; The value of immunohistochemical expression of SOX9 and CD34 in alopecia areata., [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 8, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 471, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 71, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K664;Q15970;Q15971;Q5JTA3;Q5JTA4;Q9UJB1", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0043199 sulfate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005764 lysosome", "go_biological_process": "GO:0032703 negative regulation of interleukin-2 production;GO:0007165 signal transduction;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0001894 tissue homeostasis", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "P28906-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100010010001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29965-1", "uniprot_id": [ { "id": "CD40L_HUMAN", "url": "https://www.uniprot.org/uniprot/P29965", "type": "external" } ], "mass": 29274.0, "length": 261, "protein_name": "CD40 ligand", "gene_name": "CD40LG", "organism": "Human", "refseq_name": "CD40 ligand", "refseq_ac": [ { "id": "NP_000065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000065", "type": "external" } ], "gene_names_uniprotkb": "CD40LG; CD40L; TNFSF5; TRAP", "gene_names_refseq": "CD154; CD40LG; CD40L; HIGM1; IGM; IMD3; T-BAM; TNFSF5; TRAP; gp39; hCD40L", "protein_names_uniprotkb": "CD40 ligand; CD40-L; T-cell antigen Gp39; TNF-related activation protein; TRAP; Tumor necrosis factor ligand superfamily member 5", "protein_names_refseq": "CD40 antigen ligand; CD40 ligand; CD40-L; T-B cell-activating molecule; T-cell antigen Gp39; TNF-related activation protein; tumor necrosis factor (ligand) superfamily member 5", "tax_id": 9606, "disease": "cutaneous lupus erythematosus (Disease Ontology:DOID:0050169); tick-borne encephalitis (Disease Ontology:DOID:0050175); erythema multiforme (Disease Ontology:DOID:0050185); inflammatory bowel disease (Disease Ontology:DOID:0050589); vitamin B12 deficiency (Disease Ontology:DOID:0050731); follicular lymphoma (Disease Ontology:DOID:0050873); CD40 ligand deficiency (Disease Ontology:DOID:0060022); thrombosis (Disease Ontology:DOID:0060903); overactive bladder syndrome (Disease Ontology:DOID:0070355); lupus nephritis (Disease Ontology:DOID:0080162); hyper IgM syndrome (Disease Ontology:DOID:0080544); dermatomyositis (Disease Ontology:DOID:10223); chronic lymphocytic leukemia (Disease Ontology:DOID:1040); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); sickle cell anemia (Disease Ontology:DOID:10923); familial hyperlipidemia (Disease Ontology:DOID:1168); dysgammaglobulinemia (Disease Ontology:DOID:11702); diabetic angiopathy (Disease Ontology:DOID:11713); granulomatosis with polyangiitis (Disease Ontology:DOID:12132); Graves' disease (Disease Ontology:DOID:12361); aplastic anemia (Disease Ontology:DOID:12449); cardiovascular system disease (Disease Ontology:DOID:1287); Sjogren's syndrome (Disease Ontology:DOID:12894); HELLP syndrome (Disease Ontology:DOID:13133); Behcet's disease (Disease Ontology:DOID:13241); Kawasaki disease (Disease Ontology:DOID:13378); eosinophilic esophagitis (Disease Ontology:DOID:13922); cystic fibrosis (Disease Ontology:DOID:1485); atherosclerosis (Disease Ontology:DOID:1936); essential thrombocythemia (Disease Ontology:DOID:2224); pulmonary tuberculosis (Disease Ontology:DOID:2957); antiphospholipid syndrome (Disease Ontology:DOID:2988); periodontal disease (Disease Ontology:DOID:3388); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); allergic rhinitis (Disease Ontology:DOID:4481); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); Ehrlich tumor carcinoma (Disease Ontology:DOID:5050); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); combined T cell and B cell immunodeficiency (Disease Ontology:DOID:628); migraine (Disease Ontology:DOID:6364); pulmonary hypertension (Disease Ontology:DOID:6432); end stage renal disease (Disease Ontology:DOID:783); cocaine abuse (Disease Ontology:DOID:809); periodontitis (Disease Ontology:DOID:824); perinatal necrotizing enterocolitis (Disease Ontology:DOID:8677); autoimmune thrombocytopenic purpura (Disease Ontology:DOID:8924); narcolepsy (Disease Ontology:DOID:8986); systemic lupus erythematosus (Disease Ontology:DOID:9074); pemphigus (Disease Ontology:DOID:9182); lichen planus (Disease Ontology:DOID:9201); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:959); (R-HSA-198933); (R-HSA-5668541); (R-HSA-5676594)", "pathway_count": 4, "publication_count": 158, "publication_id_list": "10085077;10359578;10499918;10746781;10797013;11237011;11265639;11489943;11513152;11556966;11676606;11728344;11807247;11853672;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12374738;12483297;12529173;12571250;12588680;12721620;12787562;1280226;1281209;1385114;14719373;14760083;14970179;15034010;15067037;15084608;15136729;15155468;15187158;15193700;15304001;15368291;15534202;15541655;15580655;15585864;15607800;15644327;15778510;15781451;15800062;15824857;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17636564;18031695;18037897;18055229;18209062;18234675;18593354;18635759;18997792;18997794;19149696;19241374;19359216;19426221;19592130;19815541;20385556;20483727;20730098;21081755;21091114;21241660;21800138;21841309;21877119;22396535;23667509;23695528;23929856;24248355;24298274;24305946;24432023;24745825;25152365;25703557;25716998;26154972;26284469;26300885;26545377;29493099;29557506;31331973;32619411;32757722;32983136;34561969;35051231;36073009;36419145;37433422;38587548;39404385;7531291;7532185;7542404;7544915;7639698;7678552;7678782;7679206;7679801;7717401;7999797;8094231;8178173;8521496;8550833;8589998;8617933;8626375;8663299;8702708;8889581;8995416;9122217;9150729;9247583;9285412;9314561;9367155;9605317;9700512;9718306;9730896;9746782;9852070", "class_list": "", "function": "A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families., [RefSeq, PubMed]; Acts as a ligand for integrins, specifically ITGA5:ITGB1 and ITGAV:ITGB3; both integrins and the CD40 receptor are required for activation of CD40-CD40LG signaling, which have cell-type dependent effects, such as B-cell activation, NF-kappa-B signaling and anti-apoptotic signaling., [UniProtKB, PubMed]; Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome., [RefSeq, PubMed]; Cytokine that acts as a ligand to CD40/TNFRSF5 (PubMed:1280226, PubMed:31331973). Costimulates T-cell proliferation and cytokine production (PubMed:8617933). Its cross-linking on T-cells generates a costimulatory signal which enhances the production of IL4 and IL10 in conjunction with the TCR/CD3 ligation and CD28 costimulation (PubMed:8617933). Induces the activation of NF-kappa-B (PubMed:15067037, PubMed:31331973). Induces the activation of kinases MAPK8 and PAK2 in T-cells (PubMed:15067037). Induces tyrosine phosphorylation of isoform 3 of CD28 (PubMed:15067037). Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL4 (By similarity). Involved in immunoglobulin class switching (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Implications of CD154 and Its Receptors in the Pathogenesis and Treatment of Systemic Lupus Erythematosus. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China. Publication Status: Online-Only, [RefSeq, PubMed]; Termination of CD40L co-stimulation promotes human B cell differentiation into antibody-secreting cells., [RefSeq, PubMed]; The protein encoded by this gene is expressed on the surface of T cells. It regulates B cell function by engaging CD40 on the B cell surface. A defect in this gene results in an inability to undergo immunoglobulin class switch and is associated with hyper-IgM syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 6, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic; monitoring", "glycan_count": 33, "disease_count": 59, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0005125 cytokine activity;GO:0043539 protein serine/threonine kinase activator activity;GO:0005174 CD40 receptor binding;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0023035 CD40 signaling pathway;GO:0006954 inflammatory response;GO:0007166 cell surface receptor signaling pathway;GO:0007229 integrin-mediated signaling pathway;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 19.4, "record_id": "P29965-1", "record_type": "protein", "filter_code": "0101000.1100111.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31944-1", "uniprot_id": [ { "id": "CASPE_HUMAN", "url": "https://www.uniprot.org/uniprot/P31944", "type": "external" } ], "mass": 27680.0, "length": 242, "protein_name": "Caspase-14", "gene_name": "CASP14", "organism": "Human", "refseq_name": "caspase-14 precursor", "refseq_ac": [ { "id": "NP_036246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036246", "type": "external" } ], "gene_names_uniprotkb": "CASP14", "gene_names_refseq": "ARCI12; CASP14; caspase-14", "protein_names_uniprotkb": "Caspase-14; 3.4.22.-; CASP-14", "protein_names_refseq": "CASP-14; caspase 14, apoptosis-related cysteine peptidase; caspase 14, apoptosis-related cysteine protease; caspase-14 precursor; mini-ICE", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis (Disease Ontology:DOID:0060655); ichthyosis, congenital, autosomal recessive 12 (MONDO:MONDO:0015018)", "pathway": " (hsa:23581); (R-HSA-6809371); (R-HSA-9725554)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11062009;11175259;11350120;11380615;11590230;12067728;12181750;12200134;12624109;1286667;12902340;15033990;15140226;15234001;15301553;15337775;15556625;15675955;15780751;15797384;15803139;16061697;16297201;16639001;16854378;17330888;17515931;17562024;17596512;18843291;19190773;19194479;19924134;19960512;20068231;20179351;20657595;20667819;20940292;21439340;21654840;21997417;22735594;22825846;23283814;23629652;24743736;24794495;25121097;25315296;25576301;25651379;25926655;26340985;26374642;26375851;26390218;27494380;28570747;29314611;29393594;29508533;29786170;30379171;30397120;30833945;30905808;31154438;31399284;32157095;32983136;33592498;34070382;34078123;34171305;34357683;35051231;35580925;38665916;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Caspase-14 contributes to retinal pigment epithelium cell barrier disruption under hyperglycemic conditions., [RefSeq, PubMed]; Caspase-14 was decreased in inflammatory lesions compared to non-lesion in atopic dermatitis. The amount of caspase-14 in the lesions correlated with clinical severity as determined by eczema area and severity index score and the skin barrier functions., [RefSeq, PubMed]; Caspase-14-From Biomolecular Basics to Clinical Approach. A Review of Available Data. Review article Publication Status: Online-Only, [RefSeq, PubMed]; High CASP14 expression is a marker of breast cancer aggressiveness in association with proliferation, TNBC phenotype, and cancer stemness., [RefSeq, PubMed]; Non-apoptotic caspase involved in epidermal differentiation. Is the predominant caspase in epidermal stratum corneum (PubMed:15556625). Seems to play a role in keratinocyte differentiation and is required for cornification. Regulates maturation of the epidermis by proteolytically processing filaggrin (By similarity). In vitro has a preference for the substrate [WY]-X-X-D motif and is active on the synthetic caspase substrate WEHD-ACF (PubMed:16854378, PubMed:19960512). Involved in processing of prosaposin in the epidermis (By similarity). May be involved in retinal pigment epithelium cell barrier function (PubMed:25121097). Involved in DNA degradation in differentiated keratinocytes probably by cleaving DFFA/ICAD leading to liberation of DFFB/CAD (PubMed:24743736)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Overexpression of S100A7 in A431 skin squamous carcinoma cells significantly promoted cell proliferation in vitro and tumor growth in vivo, whereas it suppressed the expression of GATA-3 and caspase-14, [RefSeq, PubMed]; This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This caspase has been shown to be processed and activated by caspase 8 and caspase 10 in vitro, and by anti-Fas agonist antibody or TNF-related apoptosis inducing ligand in vivo. The expression and processing of this caspase may be involved in keratinocyte terminal differentiation, which is important for the formation of the skin barrier. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95823;Q3SYC9", "ec_number_list": [ { "id": "3.4.22.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.52", "type": "external" }, { "id": "3.4.21.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.71", "type": "external" }, { "id": "2.3.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.13", "type": "external" }, { "id": "3.4.22.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.-", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.4.21.117", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.117", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004197 cysteine-type endopeptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0006508 proteolysis;GO:0031424 keratinization;GO:0008544 epidermis development;GO:0043525 positive regulation of neuron apoptotic process;GO:0070268 cornification", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P31944-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14781-1", "uniprot_id": [ { "id": "CBX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14781", "type": "external" } ], "mass": 56081.0, "length": 532, "protein_name": "Chromobox protein homolog 2", "gene_name": "CBX2", "organism": "Human", "refseq_name": "chromobox protein homolog 2 isoform 1", "refseq_ac": [ { "id": "NP_005180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005180", "type": "external" } ], "gene_names_uniprotkb": "CBX2", "gene_names_refseq": "CBX2; CDCA6; M33; SRXY5", "protein_names_uniprotkb": "Chromobox protein homolog 2", "protein_names_refseq": "Pc class homolog; cell division cycle associated 6; chromobox homolog 2 (Pc class homolog, Drosophila); chromobox protein homolog 2 isoform 1; chromobox protein homolog 2; modifier 3", "tax_id": 9606, "disease": "oral squamous cell carcinoma (Disease Ontology:DOID:0050866); 46,XY sex reversal 5 (Disease Ontology:DOID:0111776); gonadal dysgenesis (Disease Ontology:DOID:14447); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:84733); (R-HSA-2559580); (R-HSA-3108214); (R-HSA-3899300); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4655427); (R-HSA-8939243); (R-HSA-8943724); (R-HSA-9976102)", "pathway_count": 10, "publication_count": 248, "publication_id_list": "10347217;10574707;10722742;10772813;10871633;11378386;11477070;11545734;11564866;11735126;11781575;11792325;11842083;11889051;11959846;11960997;12032081;12134156;12150977;12167701;12189133;12193592;12196509;12421820;12435631;12529333;12679040;12718889;12808055;13130464;14507994;14532106;14578449;14701874;15082759;15161980;15175327;15199155;15287722;15355988;15563468;15592428;15608651;15766567;15823533;15829507;15866172;15940266;15958389;15959518;15976810;16030353;16098147;16186825;16337592;16418168;16436515;16478998;16608850;16626738;16676006;16688858;16702404;16757475;16810316;16826196;16917507;17018294;17079232;17081986;17210787;17254968;17255097;17298944;17332741;17344414;17369852;17395714;17535915;17693435;17765224;17803295;17825402;17873065;17875933;17942393;17974977;18082607;18172008;18211901;18339323;18365017;18391013;18408014;18487508;18488044;18625722;18628979;18691969;18695000;18708356;18762900;18793328;18927235;19240082;19287951;19361780;19440552;19450230;19451217;19451218;19462008;19528227;19596686;19615980;19622798;19636380;19706679;19779455;19884659;19956565;19995069;20016594;20016603;20068231;20098713;20176810;20190268;20233713;20351170;20417598;20506188;20516213;20676127;20705237;20797632;20797634;21098080;21147198;21282530;21284855;21289308;21338522;21527249;21550342;21647297;21986495;22020331;22128185;22325351;22325352;22336108;22402492;22467880;22493095;22508508;22635276;22661230;22683641;22713328;22751501;22825850;23092970;23186163;23287862;23404503;23673342;23750026;23871147;24027577;24068740;24129315;24369422;24715725;24718924;24782567;25114211;25218447;25391492;25576301;25645385;25704882;25728608;25800734;26154972;26910647;26992070;27068747;27600516;28832583;28834231;28904123;29242379;29508533;29557506;30315122;30379171;31092671;31217245;31844290;31848261;32157095;32161166;32488085;32502341;33912179;33936100;33968037;34171305;34357683;35051231;35318648;36010968;36241641;37980163;38030604;38355480;39175037;39256572;40596516;7535770;7588633;7782071;7816143;7859739;8001816;8078588;8259215;8319905;8622669;8622688;8626550;8741839;8774846;8846784;8974401;9030721;9162092;9195981;9412458;9452416;9529249;9564042;9628874;9756909;9768359;9824166;9885291", "class_list": "", "function": "Bioinformatics analysis reveals that CBX2 promotes enzalutamide resistance in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development (PubMed:21282530). PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility (PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). Involved in sexual development, acting as activator of NR5A1 expression (PubMed:19361780)., [UniProtKB, PubMed, UniProtKB, PubMed]; Cuproptosis-related ceRNA axis triggers cell proliferation and cell cycle through CBX2 in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation of USP27X by GSK3beta maintains the stability and oncogenic functions of CBX2. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic hub gene CBX2 drives a cancer stem cell-like phenotype in HCC revealed by multi-omics and multi-cohorts., [RefSeq, PubMed]; This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2010]., [RefSeq]; USP33 facilitates the ovarian cancer progression via deubiquitinating and stabilizing CBX2., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q0VDA5;Q9BTB1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0062072 histone H3K9me2/3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000791 euchromatin;GO:0000792 heterochromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045892 negative regulation of DNA-templated transcription;GO:0045137 development of primary sexual characteristics", "synthesized_glycan_count": 0, "hit_score": 25.1, "record_id": "Q14781-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15834-1", "uniprot_id": [ { "id": "CC85B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15834", "type": "external" } ], "mass": 22091.0, "length": 202, "protein_name": "Coiled-coil domain-containing protein 85B", "gene_name": "CCDC85B", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 85B", "refseq_ac": [ { "id": "NP_006839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006839", "type": "external" } ], "gene_names_uniprotkb": "CCDC85B; DIPA", "gene_names_refseq": "CCDC85B; DIPA", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 85B; Delta-interacting protein A; Hepatitis delta antigen-interacting protein A", "protein_names_refseq": "coiled-coil domain-containing protein 85B; delta-interacting protein A; hepatitis delta antigen-interacting protein A", "tax_id": 9606, "disease": "", "pathway": " (hsa:11007)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "15644333;17014843;17873903;20112406;22666460;24366607;25009281;25418920;25469497;25576301;25645385;26375851;26992070;27600516;27846572;27920218;28063628;28218747;28832583;29242379;29393594;29437277;29557506;29632046;29786170;30242906;30429286;31154438;31530632;31844290;32265295;32387766;32488085;32502341;32938616;32983136;33968037;35580925;8810253", "class_list": "", "function": "(Microbial infection) Plays a role in hepatitis delta virus (HDV) genomic replication., [UniProtKB, PubMed]; DIPA is a novel partner of C/EBP beta that down-regulates early events of adipogenesis., [RefSeq, PubMed]; Functions as a transcriptional repressor (PubMed:17014843). May inhibit the activity of CTNNB1 in a TP53-dependent manner and thus regulate cell growth (PubMed:17873903). May function in adipocyte differentiation, negatively regulating mitotic clonal expansion (By similarity). Plays a role in cell-cell adhesion and epithelium development through its interaction with proteins of the beta-catenin family (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]; Hepatitis delta virus (HDV) is a pathogenic human virus whose RNA genome and replication cycle resemble those of plant viroids. Delta-interacting protein A (DIPA), a cellular gene product, has been found to have homology to hepatitis delta virus antigen (HDAg). DIPA interacts with the viral antigen, HDAg, and can affect HDV replication in vitro. [provided by RefSeq, Jul 2008]., [RefSeq]; High CCDC85B expression is associated with non-small cell lung cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R598;Q96HA0", "ec_number_list": [], "go_molecular_function": "GO:0070097 delta-catenin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005912 adherens junction", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045892 negative regulation of DNA-templated transcription;GO:0030308 negative regulation of cell growth;GO:0045599 negative regulation of fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q15834-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16204-1", "uniprot_id": [ { "id": "CCDC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16204", "type": "external" } ], "mass": 53291.0, "length": 474, "protein_name": "Coiled-coil domain-containing protein 6", "gene_name": "CCDC6", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 6", "refseq_ac": [ { "id": "NP_005427", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005427", "type": "external" } ], "gene_names_uniprotkb": "CCDC6; D10S170; TST1", "gene_names_refseq": "CCDC6; D10S170; H4; PTC1; PTC; TPC; TST1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 6; Papillary thyroid carcinoma-encoded protein; Protein H4", "protein_names_refseq": "coiled-coil domain-containing protein 6; papillary thyroid carcinoma-encoded protein; transforming sequence, thyroid-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8030)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;14712216;15144186;15302935;16964243;17081983;17287340;17322306;17693683;17924679;18088087;18212344;18220336;18669648;18691976;19413330;19415658;19651622;19664994;19664995;19690332;20068231;20166139;21406692;23108047;23186163;23481700;2406025;24275569;25576301;25885523;27862975;27920218;28121444;28228285;28467828;28510447;28657654;28832583;29242379;29485866;29508533;29557506;29632711;29786170;30059200;30315122;30429286;30779550;30784271;31373491;31530632;31844290;31848261;32119511;32157095;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33968037;33981976;34019948;34087483;34357683;34725712;35051231;35138101;35318648;35494241;35561310;35580925;36010968;37340703;37934513;37938771;38805286;39531497;39534244;8058316", "class_list": "", "function": "CCDC6-RET fusion protein regulates Ras/MAPK signaling through the fusion- GRB2-SHC1 signal niche., [RefSeq, PubMed]; Competitive binding of circCCDC6 to microRNA-128-3p activates TXNIP/NLRP3 pathway and promotes cerebral ischemia-reperfusion defects., [RefSeq, PubMed]; This gene encodes a coiled-coil domain-containing protein. The encoded protein is ubiquitously expressed and may function as a tumor suppressor. A chromosomal rearrangement resulting in the expression of a fusion gene containing a portion of this gene and the intracellular kinase-encoding domain of the ret proto-oncogene is the cause of thyroid papillary carcinoma.[provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 38, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q15250;Q6GSG7", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0017124 SH3 domain binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q16204-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M329-1", "uniprot_id": [ { "id": "CF184_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M329", "type": "external" } ], "mass": 62711.0, "length": 555, "protein_name": "Cilia- and flagella-associated protein 184", "gene_name": "CFAP184", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 184", "refseq_ac": [ { "id": "NP_699207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699207", "type": "external" } ], "gene_names_uniprotkb": "CFAP184; CCDC96", "gene_names_refseq": "CCDC96; CFAP184", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 184", "protein_names_refseq": "cilia- and flagella-associated protein 184; coiled-coil domain containing 96; coiled-coil domain-containing protein 96", "tax_id": 9606, "disease": "", "pathway": " (hsa:257236)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "25074808;29557506;30429286;32938616;33912179;33968037;35051231;35580925;39894887", "class_list": "", "function": "In complex with CFAP263, acts as a regulator of ciliary beating that connects radial spoke 3 (RS3) to the inner dynein arm (IDA) and the nexin-dynein regulatory complex (N-DRC). The complex is positioned parallel to N-DRC and forms a connection between the arch at the base of RS3, the IDA tail and N-DRC., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8N2I7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005930 axoneme;GO:0036064 ciliary basal body", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q2M329-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3MIR4-1", "uniprot_id": [ { "id": "CC50B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3MIR4", "type": "external" } ], "mass": 38941.0, "length": 351, "protein_name": "Cell cycle control protein 50B", "gene_name": "TMEM30B", "organism": "Human", "refseq_name": "cell cycle control protein 50B", "refseq_ac": [ { "id": "NP_001017970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017970", "type": "external" } ], "gene_names_uniprotkb": "TMEM30B; CDC50B", "gene_names_refseq": "CDC50B; TMEM30B", "protein_names_uniprotkb": "Cell cycle control protein 50B; P4-ATPase flippase complex beta subunit TMEM30B; Transmembrane protein 30B", "protein_names_refseq": "P4-ATPase flippase complex beta subunit TMEM30B; cell cycle control protein 50B; transmembrane protein 30B", "tax_id": 9606, "disease": "", "pathway": " (hsa:161291)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "15375526;20685720;20947505;20961850;21914794;25418920;25576301;26992070;27846572;28063628;28228285;28904123;29632046;29786170;30315122;30429286;30779550;31217245;31844290;31848261;32387766;33592498;33717175;33912179;33968037;35051231;35580925;36010968;36241641;37074911;37293153", "class_list": "", "function": "Accessory component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids. Phospholipid translocation also seems to be implicated in vesicle formation and in uptake of lipid signaling molecules. The beta subunit may assist in binding of the phospholipid substrate (Probable). Can mediate the export of alpha subunits ATP8A1, ATP8B1, ATP8B2 and ATP8B4 from the ER to the plasma membrane., [UniProtKB, PubMed]; Downregulation of TMEM30B is associated with recurrence in meningiomas., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 9835, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KR84;Q14D00", "ec_number_list": [], "go_molecular_function": "GO:0015247 aminophospholipid flippase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045332 phospholipid translocation;GO:0070863 positive regulation of protein exit from endoplasmic reticulum;GO:0015917 aminophospholipid transport", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q3MIR4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0S7-1", "uniprot_id": [ { "id": "CC152_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0S7", "type": "external" } ], "mass": 29979.0, "length": 254, "protein_name": "Coiled-coil domain-containing protein 152", "gene_name": "CCDC152", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 152", "refseq_ac": [ { "id": "NP_001128320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128320", "type": "external" } ], "gene_names_uniprotkb": "CCDC152; Chr5_400", "gene_names_refseq": "CCDC152; CH5400; LIST", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 152", "protein_names_refseq": "coiled-coil domain-containing protein 152", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129792)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "15809229;23481700;24715725;25880248;28832583;28904123;29242379;30429286;31530632;31844290;31998317;32357974;32983136;33592498;33691108;33717175;33912179;34142161;35580925", "class_list": "", "function": "Identification of a novel endogenous long non-coding RNA that inhibits selenoprotein P translation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KXI4;B4E0P7;Q5BLP6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q4G0S7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BJE1-1", "uniprot_id": [ { "id": "CC178_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BJE1", "type": "external" } ], "mass": 102011.0, "length": 867, "protein_name": "Coiled-coil domain-containing protein 178", "gene_name": "CCDC178", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 178 isoform 1", "refseq_ac": [ { "id": "NP_001098998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098998", "type": "external" } ], "gene_names_uniprotkb": "CCDC178; C18orf34", "gene_names_refseq": "C18orf34; CCDC178", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 178", "protein_names_refseq": "coiled-coil domain-containing protein 178 isoform 1; coiled-coil domain-containing protein 178", "tax_id": 9606, "disease": "", "pathway": " (hsa:374864)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;28319061;28904123;30379171;33141586;33392160;35051231;38358459", "class_list": "", "function": "CCDC178 as a novel candidate oncogene involved in anoikis resistance and hepatocellular carcinoma (HCC) metastasis, and raise the possibility that CCDC178 may be a new therapeutic target for HCC., [RefSeq, PubMed]; Homeobox Protein BarH-like 1 Promotes Gastric Cancer Progression by Activating Coiled-Coil Domain-Containing Protein 178., [RefSeq, PubMed]; May play a crucial role in head shaping and sperm flagellum formation., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NDC6;J3KS92;Q6ZP67;Q6ZU20", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0036064 ciliary basal body", "go_biological_process": "GO:0007286 spermatid development;GO:1905198 manchette assembly", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q5BJE1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JTY5-1", "uniprot_id": [ { "id": "ZNG1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JTY5", "type": "external" } ], "mass": 44038.0, "length": 395, "protein_name": "Zinc-regulated GTPase metalloprotein activator 1C", "gene_name": "ZNG1C", "organism": "Human", "refseq_name": "zinc-regulated GTPase metalloprotein activator 1C isoform 2", "refseq_ac": [ { "id": "NP_001278750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278750", "type": "external" } ], "gene_names_uniprotkb": "ZNG1C; CBWD3", "gene_names_refseq": "CBWD3; ZNG1C; bA561O23.1", "protein_names_uniprotkb": "Zinc-regulated GTPase metalloprotein activator 1C; 3.6.5.-; COBW domain-containing protein 3; Cobalamin synthase W domain-containing protein 3", "protein_names_refseq": "COBW domain containing 3; cobalamin synthase W domain-containing protein 3; cobalamin synthetase W domain-containing protein 3; zinc-regulated GTPase metalloprotein activator 1C isoform 2; zinc-regulated GTPase metalloprotein activator 1C", "tax_id": 9606, "disease": "congenital anomalies of the kidney and urinary tract (Disease Ontology:DOID:0080205)", "pathway": " (hsa:445571)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12421752;15233989;25418920;26758079;26929215;28834231;29437277;30315122;33298915;33592498;35584702;36284347", "class_list": "", "function": "Zinc chaperone that directly transfers zinc cofactor to target metalloproteins, thereby activating them. Catalyzes zinc insertion into the active site of methionine aminopeptidase METAP1, which function to cleave the initiator methionine from polypeptides during or after protein translation. Mechanistically, the N-terminal psi-PxLVp motif binds to the C6H2-type zinc finger of inactive form of METAP1. After formation of the docked complex, zinc is transferred from the CXCC motif in the GTPase domain of ZNG1C to the zinc binding site in the peptidase domain of METAP1 in a process requiring GTP hydrolysis. GTP/GDP exchange is required for release of active METAP1., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DNG9;Q6VB91", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0140827 zinc chaperone activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q5JTY5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5NE16-1", "uniprot_id": [ { "id": "CATL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5NE16", "type": "external" } ], "mass": 25059.0, "length": 218, "protein_name": "Putative inactive cathepsin L-like protein CTSL3P", "gene_name": "CTSL3P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CTSL3P; CTSL3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative inactive cathepsin L-like protein CTSL3P; Cathepsin L3 pseudogene; HCTSL-s", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "36010968", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5NE16-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PII3-1", "uniprot_id": [ { "id": "CC174_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PII3", "type": "external" } ], "mass": 53958.0, "length": 467, "protein_name": "Coiled-coil domain-containing protein 174", "gene_name": "CCDC174", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 174 isoform a", "refseq_ac": [ { "id": "NP_057558", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057558", "type": "external" } ], "gene_names_uniprotkb": "CCDC174; C3orf19", "gene_names_refseq": "C3orf19; CCDC174; HSPC212; IHPMR; IHPM; ctr1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 174", "protein_names_refseq": "coiled-coil domain-containing protein 174 isoform a; coiled-coil domain-containing protein 174", "tax_id": 9606, "disease": "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome (MONDO:MONDO:0014784)", "pathway": " (hsa:51244)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;22544926;23186163;24715725;26358778;26992070;28063628;28218747;28832583;29242379;29393594;29437277;29493099;29632046;29632711;30315122;31154438;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32938616;32983136;33141586;33298915;33912179;33968037;34509645;35051231;35580925;36010968;36284347;37938771", "class_list": "", "function": "Probably involved in neuronal development., [UniProtKB, PubMed]; The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]., [RefSeq]; We showed that CCDC174 is ubiquitous, restricted to the cell nucleus and co-localized with EIF4A3, the CCDC174 mutation caused depletion of RYR1 and marked myopathic changes in skeletal muscle of affected individuals, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96CS5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q6PII3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXQ4-1", "uniprot_id": [ { "id": "CB066_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXQ4", "type": "external" } ], "mass": 13321.0, "length": 117, "protein_name": "Uncharacterized protein C2orf66", "gene_name": "C2orf66", "organism": "Human", "refseq_name": "uncharacterized protein C2orf66 precursor", "refseq_ac": [ { "id": "NP_998773", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_998773", "type": "external" } ], "gene_names_uniprotkb": "C2orf66; PRO21186", "gene_names_refseq": "C2orf66; IIDS6411; UNQ6411", "protein_names_uniprotkb": "Uncharacterized protein C2orf66", "protein_names_refseq": "uncharacterized protein C2orf66 precursor; uncharacterized protein C2orf66", "tax_id": 9606, "disease": "", "pathway": " (hsa:401027)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;12975309", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RNW3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6UXQ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZP82-2", "uniprot_id": [ { "id": "CC141_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZP82", "type": "external" } ], "mass": 175067.0, "length": 1530, "protein_name": "Coiled-coil domain-containing protein 141", "gene_name": "CCDC141", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 141 isoform 1", "refseq_ac": [ { "id": "NP_775919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775919", "type": "external" } ], "gene_names_uniprotkb": "CCDC141; CAMDI", "gene_names_refseq": "CAMDI; CCDC141", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 141; Coiled-coil protein associated with myosin II and DISC1", "protein_names_refseq": "coiled-coil domain-containing protein 141 isoform 1; coiled-coil domain-containing protein 141; coiled-coil protein associated with myosin II and DISC1", "tax_id": 9606, "disease": "", "pathway": " (hsa:285025)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "19536175;20956536;27014940;27600516;28228285;28324054;28832583;29242379;29632711;29769354;30315122;30379171;32520725", "class_list": "", "function": "CAMDI is required for radial migration probably through DISC1 and myosin II-mediated centrosome positioning during neuronal development., [RefSeq, PubMed]; Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a critical role in cortical radial and GnRH neurons migration during brain development. Regulates cortical radial migration by negatively controlling the activity of histone deacetylase 6 (HDAC6) and promotes centrosome maturation. CAMDI is required for dilation formation of cortical neurons during radial migration. Plays a critical role in learning and memory performance through regulation of AMPA-selective glutamate receptors (AMPARs) cell surface expression in competition with KIBRA., [UniProtKB, UniProtKB]; Report of a CCDC141 mutation as a new example of genetic aberration associated with Kallmann Syndrome, [RefSeq, PubMed]; These studies confirm that inactivating CCDC141 variants cause normosmic idiopathic hypogonadotropic hypogonadism but not Kallmann syndrome ., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "H7C0P1;J3KNW6;Q8N8H3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005886 plasma membrane", "go_biological_process": "GO:0007420 brain development;GO:0051963 regulation of synapse assembly;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6ZP82-2", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUS6-1", "uniprot_id": [ { "id": "CC149_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUS6", "type": "external" } ], "mass": 52796.0, "length": 474, "protein_name": "Coiled-coil domain-containing protein 149", "gene_name": "CCDC149", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 149 isoform 4", "refseq_ac": [ { "id": "NP_001317573", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317573", "type": "external" } ], "gene_names_uniprotkb": "CCDC149", "gene_names_refseq": "CCDC149", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 149", "protein_names_refseq": "coiled-coil domain-containing protein 149 isoform 4; coiled-coil domain-containing protein 149", "tax_id": 9606, "disease": "", "pathway": " (hsa:91050)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;17457313;26992070;29557506;31844290;32387766", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NJE7;B4DK90;B4DZG3;G5EA04;Q6NW41;Q8N3K8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6ZUS6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZV80-1", "uniprot_id": [ { "id": "CB091_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZV80", "type": "external" } ], "mass": 14825.0, "length": 131, "protein_name": "Putative uncharacterized protein LINC02898", "gene_name": "LINC02898", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02898; C2orf91", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LINC02898; Long intergenic non-protein coding RNA 2898", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "31844290", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZV80-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N350-3", "uniprot_id": [ { "id": "CBARP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N350", "type": "external" } ], "mass": 73929.0, "length": 705, "protein_name": "Voltage-dependent calcium channel beta subunit-associated regulatory protein", "gene_name": "CBARP", "organism": "Human", "refseq_name": "voltage-dependent calcium channel beta subunit-associated regulatory protein isoform 2", "refseq_ac": [ { "id": "NP_689982", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689982", "type": "external" } ], "gene_names_uniprotkb": "CBARP; C19orf26", "gene_names_refseq": "BARP; C19orf26; CBARP; DOS", "protein_names_uniprotkb": "Voltage-dependent calcium channel beta subunit-associated regulatory protein", "protein_names_refseq": "CACN beta subunit associated regulatory protein; VGCC beta-anchoring and -regulatory protein; calcium channel, voltage-dependent, beta subunit associated regulatory protein; downstream of Stk11; protein Dos; voltage-dependent calcium channel beta subunit-associated regulatory protein isoform 2; voltage-dependent calcium channel beta subunit-associated regulatory protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:255057)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "17081983;18669648;20068231;21406692;23186163;32502341;33592498;35051231;36010968", "class_list": "", "function": "Negatively regulates voltage-gated calcium channels by preventing the interaction between their alpha and beta subunits. 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"id": "CC049_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BT1", "type": "external" } ], "mass": 33461.0, "length": 292, "protein_name": "Putative uncharacterized protein C3orf49", "gene_name": "C3orf49", "organism": "Human", "refseq_name": "putative uncharacterized protein C3orf49", "refseq_ac": [ { "id": "NP_001342165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342165", "type": "external" } ], "gene_names_uniprotkb": "C3orf49", "gene_names_refseq": "C3orf49", "protein_names_uniprotkb": "Putative uncharacterized protein C3orf49", "protein_names_refseq": "putative uncharacterized protein C3orf49", "tax_id": 9606, "disease": "", "pathway": " (hsa:132200)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;30379171;33968037;34087483", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96BT1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LR7-1", "uniprot_id": [ { "id": "CMIP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LR7", "type": "external" } ], "mass": 17838.0, "length": 162, "protein_name": "Ciliary microtubule inner protein 5", "gene_name": "CIMIP5", "organism": "Human", "refseq_name": "ciliary microtubule inner protein 5", "refseq_ac": [ { "id": "NP_872306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872306", "type": "external" } ], "gene_names_uniprotkb": "CIMIP5; C2orf50", "gene_names_refseq": "C2orf50; CIMIP5", "protein_names_uniprotkb": "Ciliary microtubule inner protein 5", "protein_names_refseq": "ciliary microtubule inner protein 5; uncharacterized protein C2orf50", "tax_id": 9606, "disease": "", "pathway": " (hsa:130813)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "38538594", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9W3;D6W503", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q96LR7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LX7-4", "uniprot_id": [ { "id": "CCD17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LX7", "type": "external" } ], "mass": 67721.0, "length": 622, "protein_name": "Coiled-coil domain-containing protein 17", "gene_name": "CCDC17", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 17 isoform 1", "refseq_ac": [ { "id": "NP_001108410", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108410", "type": "external" } ], "gene_names_uniprotkb": "CCDC17", "gene_names_refseq": "CCDC17", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 17", "protein_names_refseq": "coiled-coil domain-containing protein 17 isoform 1; coiled-coil domain-containing protein 17", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861)", "pathway": " (hsa:149483)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "28282151;29557506;31844290;35051231;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1A4Y7;B4DNX7;B4E1Q5;C9J8L2;Q0P683;Q5T629", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0005930 axoneme", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q96LX7-4", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQI4-1", "uniprot_id": [ { "id": "CCDC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQI4", "type": "external" } ], "mass": 30731.0, "length": 270, "protein_name": "Coiled-coil domain-containing protein 3", "gene_name": "CCDC3", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001269587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269587", "type": "external" } ], "gene_names_uniprotkb": "CCDC3", "gene_names_refseq": "CCDC3", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 3; Fat/vessel-derived secretory protein; Favine", "protein_names_refseq": "coiled-coil domain-containing protein 3 isoform 2; coiled-coil domain-containing protein 3; fat/vessel-derived secretory protein; favine", "tax_id": 9606, "disease": "", "pathway": " (hsa:83643)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11230166;20043878;25193116;29393594;31844290;33392160;34171305;34211107;35051231;36396725;37052857;37263799", "class_list": "", "function": "CCDC3 Gene Regulates the Proliferation of Breast Cancer Cells., [RefSeq, PubMed]; CCDC3 represses TNF-alpha/NF-kappaB-induced pro-inflammatory response in endothelial cells., [RefSeq, PubMed]; Coiled-coil domain containing 3 suppresses breast cancer growth by protecting p53 from proteasome-mediated degradation., [RefSeq, PubMed]; Extracellular and intracellular functions of coiled-coil domain containing 3., [RefSeq, PubMed]; Negatively regulates TNF-induced pro-inflammatory response in endothelial cells (ECs) via inhibition of TNF-induced NF-kappaB activation in ECs (PubMed:25193116). Positively regulates lipid accumulation in adipose cells (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5VYV8;Q5VYV9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0007165 signal transduction;GO:0010629 negative regulation of gene expression;GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway;GO:0045833 negative regulation of lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BQI4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0W5-1", "uniprot_id": [ { "id": "CCDC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0W5", "type": "external" } ], "mass": 59374.0, "length": 538, "protein_name": "Coiled-coil domain-containing protein 8", "gene_name": "CCDC8", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 8", "refseq_ac": [ { "id": "NP_114429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114429", "type": "external" } ], "gene_names_uniprotkb": "CCDC8", "gene_names_refseq": "3M3; CCDC8; PPP1R20; p90", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 8", "protein_names_refseq": "coiled-coil domain-containing protein 8; protein phosphatase 1, regulatory subunit 20", "tax_id": 9606, "disease": "3-M syndrome (Disease Ontology:DOID:0060241)", "pathway": " (hsa:83987); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 130, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11230166;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17525332;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19413330;19617556;19664994;19664995;19748355;21406692;21447816;21463634;21737058;21778237;21863050;21940857;22084066;22156540;22306028;22466964;22537386;22959436;23018678;23186163;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23912815;23986495;24076655;24275569;24366543;24636985;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25752541;26344709;26460955;26632597;26906416;27030794;27222660;27565346;28115426;29153394;30429286;30610225;32005965;32284348;32350084;32651437;33258289;33444648;33968037;34171305;34509645;35051231;35251023;9790970;9887101;9891082", "class_list": "", "function": "A rare cause of syndromic short stature: 3M syndrome in three families., [RefSeq, PubMed]; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer (PubMed:24793695, PubMed:24793696). Required for localization of CUL7 to the centrosome (PubMed:24793695)., [UniProtKB, PubMed, PubMed]; Discussion of roles of CCDC8, CUL7 (cullin 7), and OBSL1 (obscurin-like 1) in growth and development using findings from patients with Miller-McKusick-Malvaux syndrome and Silver-Russell syndrome [REVIEW] Review article, [RefSeq, PubMed]; Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpressed coiled-coil domain containing protein 8 (CCDC8) mediates newly synthesized HIV-1 Gag lysosomal degradation. Publication Status: Online-Only, [RefSeq, PubMed]; P90 is a critical cofactor for p53-mediated apoptosis through promoting Tip60-mediated p53 acetylation., [RefSeq, PubMed]; This gene encodes a coiled-coil domain-containing protein. The encoded protein functions as a cofactor required for p53-mediated apoptosis following DNA damage, and may also play a role in growth through interactions with the cytoskeletal adaptor protein obscurin-like 1. Mutations in this gene are a cause of 3M syndrome-3 (3M3). [provided by RefSeq, Dec 2011]., [RefSeq]; We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8TB26", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:1990393 3M complex", "go_biological_process": "GO:0000226 microtubule cytoskeleton organization;GO:0007088 regulation of mitotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q9H0W5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ75-1", "uniprot_id": [ { "id": "CASS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ75", "type": "external" } ], "mass": 87144.0, "length": 786, "protein_name": "Cas scaffolding protein family member 4", "gene_name": "CASS4", "organism": "Human", "refseq_name": "cas scaffolding protein family member 4 isoform b", "refseq_ac": [ { "id": "NP_001157586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157586", "type": "external" } ], "gene_names_uniprotkb": "CASS4; C20orf32; HEFL", "gene_names_refseq": "C20orf32; CAS4; CASS4; HEFL; HEPL", "protein_names_uniprotkb": "Cas scaffolding protein family member 4; HEF-like protein; HEF1-EFS-p130Cas-like protein; HEPL", "protein_names_refseq": "Cas scaffolding protein family member 4; HEF-like protein; HEF1-EFS-p130Cas-like protein; cas scaffolding protein family member 4 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:57091)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "18083107;18088087;18256281;23001926;23186163;26154972;27677288;28514659;28832583;29242379;29485866;29557506;29632711;29789968;30429286;31217245;31844290;31848261;32387766;35051231;35580925;37217939", "class_list": "", "function": "Docking protein that plays a role in tyrosine kinase-based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading., [UniProtKB, PubMed]; HEPL maintains Cas family function in localization to focal adhesions, as well as regulation of FAK activity, focal adhesion integrity, and cell spreading., [RefSeq, PubMed]; Hepl is overexpressed in the nucleus and aberrantly accumulates in the cytoplasm of non-small cell lung cancer cells, and Hepl may play a role in the progression of lung cancer, including lymph node metastasis and TNM stage., [RefSeq, PubMed]; High expression of CASS4 is associated with invasion in non-small cell lung cancer., [RefSeq, PubMed]; The results of this study showed that Cas scaffolding protein family member 4 with protein tyrosine kinase 2 and their significant role in the activation of downstream signaling pathways in Alzheimer's disease., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "E1P5Z8;Q5QPD6;Q96K09;Q9BYL5", "ec_number_list": [], "go_molecular_function": "GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005925 focal adhesion", "go_biological_process": "GO:0007155 cell adhesion;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0016477 cell migration;GO:0030335 positive regulation of cell migration;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9NQ75-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQR7-1", "uniprot_id": [ { "id": "CC177_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQR7", "type": "external" } ], "mass": 79739.0, "length": 707, "protein_name": "Coiled-coil domain-containing protein 177", "gene_name": "CCDC177", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 177", "refseq_ac": [ { "id": "NP_001258436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258436", "type": "external" } ], "gene_names_uniprotkb": "CCDC177; C14orf162; PLPL", "gene_names_refseq": "C14orf162; CCDC177; PLPL", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 177; Myelin proteolipid protein-like protein", "protein_names_refseq": "coiled-coil domain-containing protein 177; myelin proteolipid protein-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:56936)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32488085;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5G1;Q2M359", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9NQR7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBN1-1", "uniprot_id": [ { "id": "CCG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBN1", "type": "external" } ], "mass": 36579.0, "length": 327, "protein_name": "Voltage-dependent calcium channel gamma-4 subunit", "gene_name": "CACNG4", "organism": "Human", "refseq_name": "voltage-dependent calcium channel gamma-4 subunit", "refseq_ac": [ { "id": "NP_055220", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055220", "type": "external" } ], "gene_names_uniprotkb": "CACNG4", "gene_names_refseq": "CACNG4", "protein_names_uniprotkb": "Voltage-dependent calcium channel gamma-4 subunit; Neuronal voltage-gated calcium channel gamma-4 subunit; TARP gamma-4; Transmembrane AMPAR regulatory protein gamma-4", "protein_names_refseq": "TARP gamma-4; calcium channel, voltage-dependent, gamma subunit 4; neuronal voltage-gated calcium channel gamma-4 subunit; transmembrane AMPAR regulatory protein gamma-4; voltage-dependent calcium channel gamma-4 subunit", "tax_id": 9606, "disease": "acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:27092); (R-HSA-112308); (R-HSA-399719); (R-HSA-5576892); (R-HSA-5576893); (R-HSA-5682910)", "pathway_count": 6, "publication_count": 35, "publication_id_list": "10613843;10646604;11290418;1309946;14500339;14505496;15000524;16990550;17387609;18093912;18184654;18311135;18628660;18974846;19406745;20162351;20220021;20461023;21127204;21172611;21566136;21817159;21829378;22054663;22514276;23804213;24591645;25966690;27102562;31154438;33981976;35051231;37541260;8107964;8825650", "class_list": "", "function": "Examined distribution of the stargazin-like proteins gamma2, gamma3, and gamma4 in human CNS: gamma2 is expressed in cerebellum, cerebral cortex, hippocampus and thalamus, whereas gamma3 abounds in cerebral cortex & amygdala and gamma4 in basal ganglia Publication Status: Online-Only, [RefSeq, PubMed]; Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (PubMed:21127204). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs), including GRIA1 and GRIA4. Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization (PubMed:21172611)., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. [provided by RefSeq, Dec 2010]., [RefSeq]; These results indicate that CACNG4, CACNG5, CACNG6 and CACNG8 may contribute to the risk of SCZ. The statistical epistasis identified between CACNG5 and CACNG6 suggests that there may be an underlying biological interaction between the two genes. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RCK0", "ec_number_list": [], "go_molecular_function": "GO:0005246 calcium channel regulator activity;GO:0005245 voltage-gated calcium channel activity;GO:0035255 ionotropic glutamate receptor binding;GO:0016247 channel regulator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030666 endocytic vesicle membrane;GO:0032281 AMPA glutamate receptor complex", "go_biological_process": "GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0051968 positive regulation of synaptic transmission, glutamatergic;GO:0042220 response to cocaine;GO:0019226 transmission of nerve impulse;GO:2000311 regulation of AMPA receptor activity", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9UBN1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK00-1", "uniprot_id": [ { "id": "CC018_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK00", "type": "external" } ], "mass": 17468.0, "length": 162, "protein_name": "Uncharacterized protein C3orf18", "gene_name": "C3orf18", "organism": "Human", "refseq_name": "uncharacterized protein C3orf18 isoform 1", "refseq_ac": [ { "id": "NP_001165211", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165211", "type": "external" } ], "gene_names_uniprotkb": "C3orf18", "gene_names_refseq": "C3orf18; G20", "protein_names_uniprotkb": "Uncharacterized protein C3orf18; Protein G20", "protein_names_refseq": "uncharacterized protein C3orf18 isoform 1; uncharacterized protein C3orf18", "tax_id": 9606, "disease": "", "pathway": " (hsa:51161)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;20205591", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[J Infect Dis. 2010 Aug 15;202(3):501], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JNP0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9UK00-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDU8-1", "uniprot_id": [ { "id": "RIMC1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDU8", "type": "external" } ], "mass": 33620.0, "length": 294, "protein_name": "RAB7A-interacting MON1-CCZ1 complex subunit 1", "gene_name": "RIMOC1", "organism": "Human", "refseq_name": "RAB7A-interacting MON1-CCZ1 complex subunit 1", "refseq_ac": [ { "id": "NP_787117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787117", "type": "external" } ], "gene_names_uniprotkb": "RIMOC1; C5orf51", "gene_names_refseq": "C5orf51; RIMOC1", "protein_names_uniprotkb": "RAB7A-interacting MON1-CCZ1 complex subunit 1; UPF0600 protein C5orf51", "protein_names_refseq": "RAB7A-interacting MON1-CCZ1 complex subunit 1; UPF0600 protein C5orf51", "tax_id": 9606, "disease": "", "pathway": " (hsa:285636)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "22645359;23301498;23481700;25880248;25892735;26992070;28514659;28832583;28904123;29242379;31154438;31844290;32157095;32387766;32502341;32938616;33968037;34357683;34432599;35051231", "class_list": "", "function": "Plays an important role in the removal of damaged mitochondria via mitophagy by controlling the stability and localization of RAB7A. Required for the recruitment of RAB7A and ATG9A vesicles to damaged mitochondria and promotes the stability of RAB7A by inhibiting its proteasomal degradation during mitophagy., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RRM9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000423 mitophagy", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "A6NDU8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGY3-1", "uniprot_id": [ { "id": "CE052_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGY3", "type": "external" } ], "mass": 17908.0, "length": 159, "protein_name": "Uncharacterized protein C5orf52", "gene_name": "C5orf52", "organism": "Human", "refseq_name": "uncharacterized protein C5orf52", "refseq_ac": [ { "id": "NP_001138604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138604", "type": "external" } ], "gene_names_uniprotkb": "C5orf52", "gene_names_refseq": "C5orf52", "protein_names_uniprotkb": "Uncharacterized protein C5orf52", "protein_names_refseq": "uncharacterized protein C5orf52", "tax_id": 9606, "disease": "", "pathway": " (hsa:100190949)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "30379171;31844290", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NGY3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MTZ7-1", "uniprot_id": [ { "id": "CL071_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MTZ7", "type": "external" } ], "mass": 30355.0, "length": 269, "protein_name": "Uncharacterized protein C12orf71", "gene_name": "C12orf71", "organism": "Human", "refseq_name": "uncharacterized protein C12orf71", "refseq_ac": [ { "id": "NP_001073875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073875", "type": "external" } ], "gene_names_uniprotkb": "C12orf71", "gene_names_refseq": "C12orf71", "protein_names_uniprotkb": "Uncharacterized protein C12orf71", "protein_names_refseq": "uncharacterized protein C12orf71", "tax_id": 9606, "disease": "", "pathway": " (hsa:728858)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32350084;35251023", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A8MTZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B1AMM8-1", "uniprot_id": [ { "id": "CI107_HUMAN", "url": "https://www.uniprot.org/uniprot/B1AMM8", "type": "external" } ], "mass": 8554.0, "length": 73, "protein_name": "Putative uncharacterized protein encoded by LINC00587", "gene_name": "LINC00587", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00587; C9orf107", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00587", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "B1AMM8-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61604-1", "uniprot_id": [ { "id": "CH10_HUMAN", "url": "https://www.uniprot.org/uniprot/P61604", "type": "external" } ], "mass": 10932.0, "length": 102, "protein_name": "10 kDa heat shock protein, mitochondrial", "gene_name": "HSPE1", "organism": "Human", "refseq_name": "10 kDa heat shock protein, mitochondrial", "refseq_ac": [ { "id": "NP_002148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002148", "type": "external" } ], "gene_names_uniprotkb": "HSPE1", "gene_names_refseq": "CPN10; EPF; GROES; HSP10; HSPE1", "protein_names_uniprotkb": "10 kDa heat shock protein, mitochondrial; 10 kDa chaperonin; CPN10; Chaperonin 10; EPF; Early-pregnancy factor; Heat shock protein family E member 1; Hsp10", "protein_names_refseq": "10 kDa chaperonin; 10 kDa heat shock protein, mitochondrial; early-pregnancy factor; epididymis secretory sperm binding protein; heat shock 10kD protein 1 (chaperonin 10); heat shock 10kDa protein 1; heat shock protein family E member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:3336); (R-HSA-9013408); (R-HSA-9841251)", "pathway_count": 3, "publication_count": 122, "publication_id_list": "10523675;10652265;10763410;11139588;11237011;11422376;11689693;11864571;11967128;12177196;12376551;12483302;1346131;15133129;16339170;17027967;18083107;19415658;19531498;19581409;19608861;19713215;20068231;20305658;20679435;21209280;21621533;21908771;22424782;22544926;22734669;23255595;23665396;24397554;24659802;24715725;25645385;25802875;25892735;25918392;26154972;26768311;26992070;27090790;27426517;27481945;27846572;28196833;28228285;28467828;28514659;28855257;28904123;29242379;29317506;29393594;29557506;29769354;29774024;29786170;30192525;30315122;30444036;30524438;30779550;31020640;31154438;31217245;31222486;31530632;31611695;31637018;31844290;31871319;31937595;32157095;32161166;32302062;32317635;32350084;32357974;32387766;32502341;32897882;32938616;32983136;32986659;33043033;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33968037;33981976;34078123;34087483;34171305;34211107;34285302;34357683;34405274;34433824;34509645;34561969;35051231;35154160;35580925;36010968;36241641;37938771;38665916;40596516;7476457;7912672;7914093;7916212;8455624;8939998;9822605", "class_list": "", "function": "Co-chaperonin implicated in mitochondrial protein import and macromolecular assembly. Together with Hsp60, facilitates the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (PubMed:11422376, PubMed:1346131, PubMed:7912672). The functional units of these chaperonins consist of heptameric rings of the large subunit Hsp60, which function as a back-to-back double ring. In a cyclic reaction, Hsp60 ring complexes bind one unfolded substrate protein per ring, followed by the binding of ATP and association with 2 heptameric rings of the co-chaperonin Hsp10. This leads to sequestration of the substrate protein in the inner cavity of Hsp60 where, for a certain period of time, it can fold undisturbed by other cell components. Synchronous hydrolysis of ATP in all Hsp60 subunits results in the dissociation of the chaperonin rings and the release of ADP and the folded substrate protein (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Overexpression of HSP10 correlates with HSP60 and Mcl-1 levels and predicts poor prognosis in non-small cell lung cancer patients., [RefSeq, PubMed]; Structural basis for active single- and double-ring complexes coexisting in the mHsp60-mHsp10 chaperonin reaction cycle Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for the structural dynamics of human mitochondrial chaperonin mHsp60. Erratum:[Sci Rep. 2021 Aug 24;11(1):17372. doi: 10.1038/s41598-021-96945-w. PMID: 34429499] Publication Status: Online-Only, [RefSeq, PubMed]; The genome structure of this gene has been established., [RefSeq, PubMed]; This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O95421;Q04984;Q53X54;Q9UDH0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006457 protein folding;GO:0097193 intrinsic apoptotic signaling pathway;GO:0001649 osteoblast differentiation;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P61604-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16880-1", "uniprot_id": [ { "id": "CGT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16880", "type": "external" } ], "mass": 61438.0, "length": 541, "protein_name": "2-hydroxyacylsphingosine 1-beta-galactosyltransferase", "gene_name": "UGT8", "organism": "Human", "refseq_name": "2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor", "refseq_ac": [ { "id": "NP_001121646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121646", "type": "external" } ], "gene_names_uniprotkb": "UGT8; CGT; UGT4", "gene_names_refseq": "CGT; UGT4; UGT8", "protein_names_uniprotkb": "2-hydroxyacylsphingosine 1-beta-galactosyltransferase; 2.4.1.47; Ceramide UDP-galactosyltransferase; Cerebroside synthase; UDP-galactose-ceramide galactosyltransferase", "protein_names_refseq": "2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor; 2-hydroxyacylsphingosine 1-beta-galactosyltransferase; UDP-galactose-ceramide galactosyltransferase; ceramide UDP-galactosyltransferase; cerebroside synthase; uridine diphosphate glycosyltransferase 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:7368); (R-HSA-9840309)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10.1101/2023.09.13.557529;10601645;10748143;10993897;11018043;11237011;11283017;11956206;12222957;12376738;12668675;12815231;12888565;15229398;1601877;16934889;20547865;2118655;22735313;23290777;23746551;23882130;24190977;24498430;25418920;25576301;25645385;25880248;26992070;27397612;27920218;28218747;28834231;29393594;29437277;29557506;29632046;29728441;29741879;29802621;30315122;31154438;31409741;31844290;31848261;32157095;32161166;32265295;32357974;32387766;33298915;33912179;33981976;34019948;34357683;34846842;34872002;34982351;35051231;35254053;36241641;37074911;7876235;7890749;8643456;8661025;8830034;8910600;8920913;9030544;9125199;9199191;9582303;9822625", "class_list": "glycogene;glycosyltransferase", "function": "Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system (PubMed:9125199). Galactosylates both hydroxy- and non-hydroxy fatty acid-containing ceramides and diglycerides (By similarity)., [UniProtKB, PubMed, UniProtKB]; High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma, [RefSeq, PubMed]; SOX9-mediated UGT8 expression promotes glycolysis and maintains the malignancy of non-small cell lung cancer., [RefSeq, PubMed]; Single-nucleotide polymorphisms (SNPs) were found in UGT8 gene, [RefSeq, PubMed]; The GC-box and CRE function cooperatively, and that the CRE regulates the cell-specific expression of the hCGT gene, [RefSeq, PubMed]; The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]., [RefSeq]; UGT8 is a potential prognostic indicator and druggable target of basal-like breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 590, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B3KXU7;O00196", "ec_number_list": [ { "id": "2.4.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.47", "type": "external" } ], "go_molecular_function": "GO:0008489 UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity;GO:0003851 N-acylsphingosine galactosyltransferase activity;GO:0008194 UDP-glycosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0098553 lumenal side of endoplasmic reticulum membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0048812 neuron projection morphogenesis;GO:0007417 central nervous system development;GO:0007010 cytoskeleton organization;GO:0007422 peripheral nervous system development", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q16880-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60543-1", "uniprot_id": [ { "id": "CIDEA_HUMAN", "url": "https://www.uniprot.org/uniprot/O60543", "type": "external" } ], "mass": 24687.0, "length": 219, "protein_name": "Lipid transferase CIDEA", "gene_name": "CIDEA", "organism": "Human", "refseq_name": "lipid transferase CIDEA isoform 1", "refseq_ac": [ { "id": "NP_001270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001270", "type": "external" } ], "gene_names_uniprotkb": "CIDEA", "gene_names_refseq": "CIDE-A; CIDEA", "protein_names_uniprotkb": "Lipid transferase CIDEA; Cell death activator CIDE-A; Cell death-inducing DFFA-like effector A", "protein_names_refseq": "cell death activator CIDE-A; lipid transferase CIDEA isoform 1; lipid transferase CIDEA", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1149); (R-HSA-8964572); (R-HSA-9844594)", "pathway_count": 3, "publication_count": 21, "publication_id_list": "11237011;15919794;16186410;17311113;18160536;18509062;19843876;20624928;22106267;24519944;25028495;25720106;26118629;26322308;26515554;27923808;29557506;29786170;31097771;34672413;9564035", "class_list": "", "function": "CIDEA expression in SAT from adolescent girls with obesity and unfavorable patterns of abdominal fat distribution., [RefSeq, PubMed]; Cidea, unexpectedly, functions molecularly as an indirect inhibitor of thermogenesis via inhibition of UCP1 activity., [RefSeq, PubMed]; Lipid transferase that promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:19843876, PubMed:26118629). Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage (PubMed:19843876). Localizes on the lipid droplet surface, at focal contact sites between lipid droplets, and mediates atypical lipid droplet fusion by promoting directional net neutral lipid transfer from the smaller to larger lipid droplets (By similarity). The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair and occurs at a lower rate than that promoted by CIDEC (By similarity). May also act as a CEBPB coactivator in epithelial cells to control the expression of a subset of CEBPB downstream target genes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but not casein (By similarity). By interacting with CEBPB, strengthens the association of CEBPB with the XDH promoter, increases histone acetylation and dissociates HDAC1 from the promoter (By similarity). When overexpressed, induces apoptosis; the physiological significance of its role in apoptosis is unclear (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Results support a role for cell death-inducing DFFA (DNA fragmentation factor-alpha)-like effector A (CIDEA) alleles in human obesity GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Differential Expression of Cide Family Members is Associated with Nafld Progression from Steatosis to Steatohepatitis. Publication Status: Online-Only, [RefSeq, PubMed]; The lowest mean relative of the gene expression for CIDE-A was observed in the group of obese patients with aortic aneurysm and lipid disorders Publication Status: Online-Only, [RefSeq, PubMed]; These data establish a functional role for Cidea and suggest that, in humans, the association between Cidea levels in white fat and metabolic health is not only correlative but also causative. Erratum:[Nat Commun. 2016 Aug 04;7:12395. doi: 10.1038/ncomms12395. PMID: 27488677] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]., [RefSeq]; We propose an important and human-specific role for CIDEA in lipolysis regulation and metabolic complications of obesity., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YIY7;Q6UPR7", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0042803 protein homodimerization activity;GO:0070300 phosphatidic acid binding;GO:0120013 lipid transfer activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005740 mitochondrial envelope;GO:0005811 lipid droplet", "go_biological_process": "GO:0070417 cellular response to cold;GO:0001659 temperature homeostasis;GO:0006351 DNA-templated transcription;GO:0006629 lipid metabolic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "O60543-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E5RJ46-1", "uniprot_id": [ { "id": "CH087_HUMAN", "url": "https://www.uniprot.org/uniprot/E5RJ46", "type": "external" } ], "mass": 11413.0, "length": 101, "protein_name": "Putative uncharacterized protein LINC02906", "gene_name": "LINC02906", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02906; C8orf87", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LINC02906; Long intergenic non-protein coding RNA 2906", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "E5RJ46-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00450-1", "uniprot_id": [ { "id": "CERU_HUMAN", "url": "https://www.uniprot.org/uniprot/P00450", "type": "external" } ], "mass": 122219.0, "length": 1065, "protein_name": "Ceruloplasmin", "gene_name": "CP", "organism": "Human", "refseq_name": "ceruloplasmin isoform 1 precursor", "refseq_ac": [ { "id": "NP_000087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000087", "type": "external" } ], "gene_names_uniprotkb": "CP", "gene_names_refseq": "AB073614; CP-2; CP", "protein_names_uniprotkb": "Ceruloplasmin; 1.11.1.27; 1.11.1.9; 1.16.3.1; 1.16.3.4; Cuproxidase ceruloplasmin; Ferroxidase ceruloplasmin; Glutathione peroxidase ceruloplasmin; Glutathione-dependent peroxiredoxin ceruloplasmin", "protein_names_refseq": "caeruloplasmin; ceruloplasmin (ferroxidase); ceruloplasmin isoform 1 precursor; cuproxidase ceruloplasmin; ferroxidase ceruloplasmin; glutathione peroxidase ceruloplasmin; glutathione-dependent peroxiredoxin ceruloplasmin", "tax_id": 9606, "disease": "aceruloplasminemia (Disease Ontology:DOID:0050711); ovarian serous carcinoma (Disease Ontology:DOID:0050933); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease (Disease Ontology:DOID:10652); urinary bladder cancer (Disease Ontology:DOID:11054); sarcoma (Disease Ontology:DOID:1115); Human papillomavirus infectious disease (Disease Ontology:DOID:11166); heart disease (Disease Ontology:DOID:114); head and neck cancer (Disease Ontology:DOID:11934); hemosiderosis (Disease Ontology:DOID:12119); leiomyoma (Disease Ontology:DOID:127); lung cancer (Disease Ontology:DOID:1324); cholestasis (Disease Ontology:DOID:13580); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); ovary epithelial cancer (Disease Ontology:DOID:2152); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); localized osteosarcoma (Disease Ontology:DOID:3356); ovarian carcinoma (Disease Ontology:DOID:4001); systemic scleroderma (Disease Ontology:DOID:418); brain edema (Disease Ontology:DOID:4724); hepatocellular carcinoma (Disease Ontology:DOID:684); muscular atrophy (Disease Ontology:DOID:767); hyperthyroidism (Disease Ontology:DOID:7998); Wilson disease (Disease Ontology:DOID:893); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1356); (R-HSA-381426); (R-HSA-425410); (R-HSA-5619049); (R-HSA-5619060); (R-HSA-8957275); (R-HSA-917937)", "pathway_count": 7, "publication_count": 180, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10026136;10077652;10218588;10481051;10508415;10512690;10597293;10614670;10625641;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11323407;11431687;11522292;11606061;11734551;11739083;11751371;11788658;12055353;12091366;12241545;12379487;12453412;12466191;12504026;12730114;12810533;12904166;12958161;1370451;1383255;14576842;14623105;14760718;15001581;15044468;15084671;15126567;15201052;15308688;15469690;15485880;15525596;15531878;15537541;15557511;15642270;15692071;15804357;16143108;16150804;16274220;16321355;16335952;16351644;16377569;16407072;16510471;16813613;16906150;16984228;17047378;17211682;17242517;17249697;17312271;17486601;17985932;18083107;18194661;18514042;18991276;19021540;19139490;19159218;19452451;1946430;19562805;19762596;19762597;19838169;20550936;21081667;2154449;22341971;22341972;23090970;2355023;23584533;23615448;23843990;24190977;24279413;24530628;2476804;2479552;24841998;25319704;25548167;26091039;27452731;27726376;28035807;28514659;2873574;29183916;29242379;29331515;29391424;29393594;29427759;29632711;29671580;29741879;29786170;29789417;30237853;30459171;30755481;32125861;34725484;3486416;35372033;36697289;37074911;3755405;38069040;38382185;39990658;4643313;5912351;6571985;6582496;6940148;6987229;6987230;7096333;7451505;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;7702601;7708681;7820540;7983023;8041788;8641692;8695634;8781553;8789443;8817670;8894645;8964575;9207117;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Ceruloplasmin Reduces the Lactoferrin/Oleic Acid Antitumor Complex-Mediated Release of Heme-Containing Proteins from Blood Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional blue, copper-binding (6-7 atoms per molecule) glycoprotein. It has ferroxidase activity oxidizing Fe(2+) to Fe(3+) without releasing radical oxygen species. It is involved in iron transport across the cell membrane. Copper ions provide a large number of enzymatic activites. Oxidizes highly toxic ferrous ions to the ferric state for further incorporation onto apo-transferrins, catalyzes Cu(+) oxidation and promotes the oxidation of biogenic amines such as norepinephrin and serotonin. Provides Cu(2+) ions for the ascorbate-mediated deaminase degradation of the heparan sulfate chains of GPC1. Has glutathione peroxidase-like activity, can remove both hydrogen peroxide and lipid hydroperoxide in the presence of thiols. Also shows NO-oxidase and NO2 synthase activities that determine endocrine NO homeostasis., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]; Tumor associated macrophages transfer ceruloplasmin mRNA to fibrosarcoma cells and protect them from ferroptosis., [RefSeq, PubMed]; Wilson's disease: overview. Review article, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 3, "mined_n_glycosites": 3, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 7, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 230, "disease_count": 30, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "Q14063;Q2PP18;Q9UKS4", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "1.11.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.9", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "1.16.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.4", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "1.11.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.12", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.4.21.112", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.112", "type": "external" }, { "id": "3.1.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.98", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.2.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.51", "type": "external" }, { "id": "2.4.1.145", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.145", "type": "external" } ], "go_molecular_function": "GO:0051087 protein-folding chaperone binding;GO:0016491 oxidoreductase activity;GO:0005507 copper ion binding;GO:0004322 ferroxidase activity;GO:0004602 glutathione peroxidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0006879 intracellular iron ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 42.8, "record_id": "P00450-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100100001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SQS8-1", "uniprot_id": [ { "id": "CJ120_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SQS8", "type": "external" } ], "mass": 39268.0, "length": 335, "protein_name": "Uncharacterized protein C10orf120", "gene_name": "C10orf120", "organism": "Human", "refseq_name": "uncharacterized protein C10orf120", "refseq_ac": [ { "id": "NP_001010912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010912", "type": "external" } ], "gene_names_uniprotkb": "C10orf120", "gene_names_refseq": "C10orf120; bA318C4.1", "protein_names_uniprotkb": "Uncharacterized protein C10orf120", "protein_names_refseq": "uncharacterized protein C10orf120", "tax_id": 9606, "disease": "", "pathway": " (hsa:399814)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29557506;36871790", "class_list": "", "function": "C9orf131 and C10orf120 are not essential for male fertility in humans or mice., [RefSeq, PubMed]; Dispensable for normal development and fertility., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RU17", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5SQS8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31997-1", "uniprot_id": [ { "id": "CEAM8_HUMAN", "url": "https://www.uniprot.org/uniprot/P31997", "type": "external" } ], "mass": 38154.0, "length": 349, "protein_name": "Cell adhesion molecule CEACAM8", "gene_name": "CEACAM8", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM8 precursor", "refseq_ac": [ { "id": "NP_001807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001807", "type": "external" } ], "gene_names_uniprotkb": "CEACAM8; CGM6", "gene_names_refseq": "CD66b; CD67; CEACAM8; CGM6; NCA-95", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM8; CD67 antigen; CEA cell adhesion molecule 8; Carcinoembryonic antigen CGM6; Carcinoembryonic antigen-related cell adhesion molecule 8; Non-specific cross-reacting antigen NCA-95", "protein_names_refseq": "CD67 antigen; carcinoembryonic antigen CGM6; carcinoembryonic antigen gene family member 6; carcinoembryonic antigen related cell adhesion molecule 8; cell adhesion molecule CEACAM8 precursor; cell adhesion molecule CEACAM8; non-specific cross-reacting antigen NCA-95", "tax_id": 9606, "disease": "severe acute respiratory syndrome (Disease Ontology:DOID:2945)", "pathway": " (hsa:1088); (R-HSA-1566977); (R-HSA-202733); (R-HSA-6798695)", "pathway_count": 4, "publication_count": 85, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11590190;11779189;11812992;12070135;12208882;12469115;12782713;1427854;14529530;14615387;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16740002;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;2022629;2045422;20690820;21193412;21659548;2208113;2306228;23090970;23650620;23945545;24043627;24190977;24764293;2538457;26483485;29557506;29741879;31222613;32632664;35051231;37074911;37162631;3872795;468991;6643500;7509040;7521878;8163559;8166770;8314844;8692836;8776764;9052782;9169774;9242610;9295288;9382878;9427723;9693095;9763524", "class_list": "", "function": "CD66b(+) monocytes represent a proinflammatory myeloid subpopulation in cancer., [RefSeq, PubMed]; Cell surface glycoprotein that plays a role in cell adhesion in a calcium-independent manner (PubMed:11590190, PubMed:2022629, PubMed:8776764). Mediates heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM6 (PubMed:11590190, PubMed:2022629, PubMed:8776764). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764)., [UniProtKB, PubMed, PubMed, PubMed]; Clinical Significance of CD66b Expression in Non-Small Cell Lung Cancer., [RefSeq, PubMed]; High CEACAM8 expression is associated with metastases in breast carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 10, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "O60399;Q16574", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006955 immune response;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P31997-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14646-1", "uniprot_id": [ { "id": "CHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14646", "type": "external" } ], "mass": 196688.0, "length": 1710, "protein_name": "ATP-dependent chromatin remodeler CHD1", "gene_name": "CHD1", "organism": "Human", "refseq_name": "ATP-dependent chromatin remodeler CHD1 isoform 2", "refseq_ac": [ { "id": "NP_001261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261", "type": "external" } ], "gene_names_uniprotkb": "CHD1", "gene_names_refseq": "CHD-1; CHD1; PILBOS", "protein_names_uniprotkb": "ATP-dependent chromatin remodeler CHD1; 3.6.4.-; CHD-1; Chromo domain-containing protein 1", "protein_names_refseq": "ATP-dependent chromatin remodeler CHD1 isoform 2; ATP-dependent chromatin remodeler CHD1; ATP-dependent helicase CHD1; chromo domain-containing protein 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Pilarowski-Bjornsson syndrome (Disease Ontology:DOID:0070757); castration-resistant prostate carcinoma (Disease Ontology:DOID:0080909); prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:1105); (R-HSA-9018519); (R-HSA-9943411)", "pathway_count": 3, "publication_count": 237, "publication_id_list": "10.1101/2023.09.13.557529;10199952;10500157;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11682626;12498683;12612073;12682017;12959972;14631847;14675539;14978097;15001666;15276198;15282324;15343269;15345050;15514030;15647753;15986123;16009131;16046058;16087863;16113099;16263726;1630819;16372014;16964243;16980581;17013392;17081983;17277772;17433364;17463000;17495528;17510434;17637753;17666587;17690249;17717186;17924679;18042460;18187655;18219272;18256232;18322535;18358809;18452278;18476782;18533032;18669648;18691976;18762174;18805503;19001364;19007248;19020303;19098913;19274700;19295514;19321454;19383337;19651622;19664995;19691289;19718048;20068230;20068231;20211137;20219941;20220130;20498280;20570965;20682797;21106759;21151129;21406692;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22046413;22056668;22265404;22492511;22545144;22569126;22704330;22922743;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23481700;23723241;23906331;24167369;24275569;24371278;24714562;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25728767;25880248;25892735;26056233;26153859;26154972;26204489;26375851;26462610;26479350;26758079;26992070;27062924;27591891;27600516;27661449;27846572;27862975;27886276;27920218;28063628;28218747;28228285;28411811;28510447;28514659;28539435;28832583;28834231;28866611;28904123;2919170;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29930882;30410026;30429286;3045126;30484775;30524438;30779550;31154438;31217245;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;3281094;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34424918;34533858;34932366;3498214;35051231;35561310;35580925;35771632;36010968;36206129;36241641;36284347;36577835;3677090;37217939;7559524;7935485;7937828;8195246;8197458;8419924;8876171;9201922;9326634;9338790;9388265;9611253;9671459;9731700", "class_list": "", "function": "ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity). Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3 (PubMed:18042460, PubMed:28866611). Required for maintaining open chromatin and pluripotency in embryonic stem cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; CHD1 Promotes Sensitivity to Aurora Kinase Inhibitors by Suppressing Interaction of AURKA with Its Coactivator TPX2., [RefSeq, PubMed]; Cell-cell adhesion regulates Merlin/NF2 interaction with the PAF complex. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA LINC02535 Induces Colorectal Adenocarcinoma Progression via Modulating miR-30d-5p/CHD1., [RefSeq, PubMed]; MiR-30a-5p/CHD1 axis enhances cisplatin sensitivity of ovarian cancer cells via inactivating the Wnt/beta-catenin pathway., [RefSeq, PubMed]; SPOP and CHD1 alterations in prostate cancer: Relationship with PTEN loss, tumor grade, perineural infiltration, and PSA recurrence., [RefSeq, PubMed]; The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 41, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q17RZ3", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0000228 nuclear chromosome", "go_biological_process": "GO:0034728 nucleosome organization;GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0043923 host-mediated activation of viral transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 24.2, "record_id": "O14646-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94986-4", "uniprot_id": [ { "id": "CE152_HUMAN", "url": "https://www.uniprot.org/uniprot/O94986", "type": "external" } ], "mass": 195626.0, "length": 1710, "protein_name": "Centrosomal protein of 152 kDa", "gene_name": "CEP152", "organism": "Human", "refseq_name": "centrosomal protein of 152 kDa isoform 1", "refseq_ac": [ { "id": "NP_001181927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001181927", "type": "external" } ], "gene_names_uniprotkb": "CEP152; KIAA0912", "gene_names_refseq": "CEP152; MCPH4; MCPH9; SCKL5", "protein_names_uniprotkb": "Centrosomal protein of 152 kDa; Cep152", "protein_names_refseq": "asterless; centrosomal protein 152kDa; centrosomal protein of 152 kDa isoform 1; microcephaly, primary autosomal recessive 4", "tax_id": 9606, "disease": "Seckel syndrome 5 (Disease Ontology:DOID:0070012); primary autosomal recessive microcephaly 9 (Disease Ontology:DOID:0070292)", "pathway": " (hsa:22995); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 124, "publication_id_list": "11076968;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20547088;20558667;20598275;20852615;21059844;21131973;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;21983783;22020124;22094468;22179047;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24613305;24715725;24982133;24997597;25047611;25313408;25532896;25576301;26154972;26337392;26992070;27846572;27920218;28218747;28832583;28834231;28904123;29242379;29351928;29393594;29557506;29632046;30315122;30379171;30804208;31844290;32060285;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33402344;33592498;33912179;33936100;33968037;34156311;34509645;34932366;35051231;35580925;35849559;36010968;36241641;37217939;37707473;39302247;7769006;7790358;8838651", "class_list": "", "function": "CEP152 is a strong candidate for the causal gene underlying MCPH4 and may be an important gene in the evolution of human brain size., [RefSeq, PubMed]; Centrosomal organization of Cep152 provides flexibility in Plk4 and procentriole positioning., [RefSeq, PubMed]; Drosophila Asl and human CEP152 are required for the centrosomal loading of Plk4 in Drosophila and CPAP in human cells, respectively, [RefSeq, PubMed]; Necessary for centrosome duplication; the function also seems to involve CEP63, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:26297806). Acts as a molecular scaffold facilitating the interaction of PLK4 and CPAP, 2 molecules involved in centriole formation (PubMed:20852615, PubMed:21059844). Proposed to snatch PLK4 away from PLK4:CEP92 complexes in early G1 daughter centriole and to reposition PLK4 at the outer boundary of a newly forming CEP152 ring structure (PubMed:24997597). Also plays a key role in deuterosome-mediated centriole amplification in multiciliated that can generate more than 100 centrioles (By similarity). Overexpression of CEP152 can drive amplification of centrioles (PubMed:20852615)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; Polymorphism in miRNA target sites of CEP-63 and CEP-152 ring complex influences expression of CEP genes and favors tumorigenesis in glioma., [RefSeq, PubMed]; This gene encodes a protein that is thought to be involved with centrosome function. Mutations in this gene have been associated with primary microcephaly (MCPH4). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "E7ER66;Q17RV1;Q6NTA0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0036064 ciliary basal body;GO:0000242 pericentriolar material", "go_biological_process": "GO:0030030 cell projection organization;GO:0051298 centrosome duplication;GO:0007099 centriole replication;GO:0098535 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "O94986-4", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95813-1", "uniprot_id": [ { "id": "CER1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95813", "type": "external" } ], "mass": 30084.0, "length": 267, "protein_name": "Cerberus", "gene_name": "CER1", "organism": "Human", "refseq_name": "cerberus precursor", "refseq_ac": [ { "id": "NP_005445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005445", "type": "external" } ], "gene_names_uniprotkb": "CER1; DAND4", "gene_names_refseq": "CER1; DAND4", "protein_names_uniprotkb": "Cerberus; Cerberus-related protein; DAN domain family member 4", "protein_names_refseq": "DAN domain family member 4; cerberus 1, cysteine knot superfamily, homolog; cerberus precursor; cerberus-related 1; cerberus-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9350); (R-HSA-1181150); (R-HSA-1433617); (R-HSA-201451); (R-HSA-9937080)", "pathway_count": 5, "publication_count": 65, "publication_id_list": "10049596;10067895;10458166;10473623;10587654;10712517;10822381;10934479;11016919;11024047;11121043;11158580;11278251;11294908;11389842;11485994;11509558;11571290;11714695;11779503;11779505;12063393;12151385;12519765;12592392;12821673;12857866;14978253;15062104;15150278;15340161;15350224;15485907;15531507;16260601;16672363;17029022;17068149;17272273;17311849;17356069;19114992;20694664;21356369;21383881;21532621;22543871;23717584;24138842;25603319;26802359;31844290;34859850;7644468;7791754;8119126;8653785;8878477;8893010;9136927;9288972;9311995;9436979;9670020;9702198", "class_list": "", "function": "CER 1 gene polymorphism in postmenopausal Roma and non-Roma Slovak women in connection with osteoporosis., [RefSeq, PubMed]; CER1 gene variations play a significant role in determining BMD and vertebral or hip fractures, which might be helpful in clinical practice to identify patients with increased fracture risk, [RefSeq, PubMed]; Cerberus binds and inhibits Nodal, Activin B, BMP-6, and BMP-7 but not BMP-2 or Activin A., [RefSeq, PubMed]; Cytokine that may play a role in anterior neural induction and somite formation during embryogenesis in part through a BMP-inhibitory mechanism. Can regulate Nodal signaling during gastrulation as well as the formation and patterning of the primitive streak (By similarity)., [UniProtKB]; No significant association between the studied DKK1 variations and osteoporosis was found, while CER1 variations seem to play a significant role in the determination of osteoporosis, combined with bone markers, in postmenopausal osteoporotic women. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that Cer1 (or CER1) serves as a good marker for quantification of definitive endoderm differentiation of mouse and human ES/iPS cells Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytokine member of the cysteine knot superfamily, characterized by nine conserved cysteines and a cysteine knot region. The cerberus-related cytokines, together with Dan and DRM/Gremlin, represent a group of bone morphogenetic protein (BMP) antagonists that can bind directly to BMPs and inhibit their activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q6ISJ1;Q6ISJ6;Q6ISQ2;Q6ISS1", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005125 cytokine activity;GO:0016015 morphogen activity;GO:0036122 BMP binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0009952 anterior/posterior pattern specification;GO:0030514 negative regulation of BMP signaling pathway;GO:0042074 cell migration involved in gastrulation", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O95813-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07199-1", "uniprot_id": [ { "id": "CENPB_HUMAN", "url": "https://www.uniprot.org/uniprot/P07199", "type": "external" } ], "mass": 65171.0, "length": 599, "protein_name": "Major centromere autoantigen B", "gene_name": "CENPB", "organism": "Human", "refseq_name": "major centromere autoantigen B", "refseq_ac": [ { "id": "NP_001801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001801", "type": "external" } ], "gene_names_uniprotkb": "CENPB", "gene_names_refseq": "CENPB", "protein_names_uniprotkb": "Major centromere autoantigen B; CENP-B; Centromere protein B", "protein_names_refseq": "CENP-B; centromere autoantigen B; centromere protein B, 80kDa; major centromere autoantigen B", "tax_id": 9606, "disease": "primary biliary cholangitis (Disease Ontology:DOID:12236); inner ear disease (Disease Ontology:DOID:2952)", "pathway": " (hsa:1059)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "11726497;11862315;14522975;1469042;16565220;18072184;18220336;1893793;18991276;19007248;19412974;19413330;19651622;19664995;19691289;20068231;22424782;23186163;23481700;23978223;2435739;24522885;24715725;25418920;25576301;26154972;26375851;27499292;27920218;28228285;28832583;28904123;29393594;29557506;29632046;29632711;29786170;30429286;30779550;31092671;31154438;31844290;31848261;31937595;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33881484;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34519373;34547289;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;37938771;9451007", "class_list": "", "function": "CENP-B promotes the centromeric localization of ZFAT to control transcription of noncoding RNA., [RefSeq, PubMed]; Centromeric transcription maintains centromeric cohesion in human cells., [RefSeq, PubMed]; Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box (PubMed:11726497). May organize arrays of centromere satellite DNA into a higher-order structure which then directs centromere formation and kinetochore assembly in mammalian chromosomes (Probable)., [UniProtKB, PubMed]; LINC01123 potentially correlates with radioresistance in glioma through the miR-151a/CENPB axis., [RefSeq, PubMed]; This gene product is a highly conserved protein that facilitates centromere formation. It is a DNA-binding protein that is derived from transposases of the pogo DNA transposon family. It contains a helix-loop-helix DNA binding motif at the N-terminus, and a dimerization domain at the C-terminus. The DNA binding domain recognizes and binds a 17-bp sequence (CENP-B box) in the centromeric alpha satellite DNA. This protein is proposed to play an important role in the assembly of specific centromere structures in interphase nuclei and on mitotic chromosomes. It is also considered a major centromere autoantigen recognized by sera from patients with anti-centromere antibodies. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 10, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96EI4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0043565 sequence-specific DNA binding;GO:0003696 satellite DNA binding;GO:0019237 centromeric DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0000775 chromosome, centromeric region;GO:0005694 chromosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P07199-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11597-1", "uniprot_id": [ { "id": "CETP_HUMAN", "url": "https://www.uniprot.org/uniprot/P11597", "type": "external" } ], "mass": 54756.0, "length": 493, "protein_name": "Cholesteryl ester transfer protein", "gene_name": "CETP", "organism": "Human", "refseq_name": "cholesteryl ester transfer protein isoform 1 precursor", "refseq_ac": [ { "id": "NP_000069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000069", "type": "external" } ], "gene_names_uniprotkb": "CETP", "gene_names_refseq": "BPIFF; CETP; HDLCQ10", "protein_names_uniprotkb": "Cholesteryl ester transfer protein; Lipid transfer protein I", "protein_names_refseq": "BPI fold containing family F; cholesteryl ester transfer protein isoform 1 precursor; cholesteryl ester transfer protein plasma; lipid transfer protein I", "tax_id": 9606, "disease": "hyperalphalipoproteinemia 1 (Disease Ontology:DOID:0111369); carotid artery disease (Disease Ontology:DOID:3407)", "pathway": " (hsa:1071); (R-HSA-8964041); (R-HSA-8964058); (R-HSA-9029569)", "pathway_count": 4, "publication_count": 91, "publication_id_list": "10391209;10553005;10595541;10858438;11149950;11237011;11500512;11604492;11875109;12032151;12091484;12150943;12454263;12612088;12966036;14559902;14703507;14764426;15080555;15147902;15994327;16326978;16335952;16968945;17186944;17215532;17237796;17339654;17952847;18782758;18991276;19008531;19139490;19481530;19567873;20466882;20466885;20494359;20566875;20855588;21187453;21310851;21507939;2215607;22363685;22541735;22673513;23090970;2334701;23496987;23519696;23790976;24293641;26984517;27862975;28082258;28228285;2833496;28514659;28832583;28842423;28869506;29391424;29557506;29772548;29786170;30459171;31217245;31844290;32502341;3281933;33717175;35580925;3600759;37074911;38057013;38062157;38098040;38265339;39201274;4335615;4340992;4360812;5865378;6619141;8408659;8943225;9332354;9548923;9829992;9880564", "class_list": "", "function": "Association of CETP Gene Polymorphisms and Haplotypes with Acute Heart Rate Response to Exercise. Publication Status: Online-Only, [RefSeq, PubMed]; Association of dyslipidemia with single nucleotide polymorphisms of the cholesteryl ester transfer protein gene and cardiovascular disease risk factors in a highly admixed population., [RefSeq, PubMed]; CETP and APOA2 polymorphisms are associated with weight loss and healthy eating behavior changes in response to digital lifestyle modifications. Publication Status: Online-Only, [RefSeq, PubMed]; CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease. Publication Status: Online-Only, [RefSeq, PubMed]; Interaction between CETP Taq1B polymorphism and dietary patterns on lipid profile and severity of coronary arteries stenosis in patients under coronary angiography: a cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL (PubMed:24293641, PubMed:3281933, PubMed:3600759). Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination (PubMed:17237796)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 8593, "biomarker_type": "", "glycan_count": 15, "disease_count": 2, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q13987;Q13988;Q53YZ1", "ec_number_list": [], "go_molecular_function": "GO:0005548 phospholipid transporter activity;GO:0008289 lipid binding;GO:0015485 cholesterol binding;GO:0031210 phosphatidylcholine binding;GO:0017129 triglyceride binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0034364 high-density lipoprotein particle;GO:0070062 extracellular exosome;GO:0031982 vesicle", "go_biological_process": "GO:0006641 triglyceride metabolic process;GO:0006869 lipid transport;GO:0008203 cholesterol metabolic process;GO:0055088 lipid homeostasis;GO:0010745 negative regulation of macrophage derived foam cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P11597-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40198-1", "uniprot_id": [ { "id": "CEAM3_HUMAN", "url": "https://www.uniprot.org/uniprot/P40198", "type": "external" } ], "mass": 27091.0, "length": 252, "protein_name": "Cell adhesion molecule CEACAM3", "gene_name": "CEACAM3", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001264092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264092", "type": "external" } ], "gene_names_uniprotkb": "CEACAM3; CD66D; CGM1", "gene_names_refseq": "CD66D; CEACAM3; CEA; CGM1a; CGM1; W264; W282", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM3; CEA cell adhesion molecule 3; Carcinoembryonic antigen CGM1; Carcinoembryonic antigen-related cell adhesion molecule 3", "protein_names_refseq": "CD66d antigen; carcinoembryonic antigen CGM1; carcinoembryonic antigen gene family member 1; carcinoembryonic antigen related cell adhesion molecule 3; cell adhesion molecule CEACAM3 isoform 2 precursor; cell adhesion molecule CEACAM3; nonspecific cross-reacting antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:1084); (R-HSA-202733); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 76, "publication_id_list": "10606205;10764623;11207550;11237011;11256994;11564780;11708798;11779189;11812992;12070135;12208882;12469115;12782713;12864848;1427854;14529530;14615387;14707113;15000751;15528364;15681301;15721307;1591491;16258728;16297198;16585556;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17339478;17379836;17442946;17452516;17505016;17525755;17563375;17580308;17600130;17615384;17625065;19279206;2050678;21193412;21659548;23481700;23650620;23945545;24043627;24764293;2538457;32606071;34847408;35850306;36928256;38065858;468991;7509040;7521878;8163559;8166770;8314844;8508798;8692836;9052782;9169774;9242610;9295288;9382878;9693095;9763524", "class_list": "", "function": "Antibody ligation of CEACAM1, CEACAM3, and CEACAM6, differentially enhance the cytokine release of human neutrophils in responses to Candida albicans., [RefSeq, PubMed]; CEACAM3 decreases asthma exacerbations and modulates respiratory syncytial virus latent infection in children., [RefSeq, PubMed]; Diffusion-weighted magnetic resonance sequence and CA125/CEA ratio can be used as add-on tools to ultrasound for the differentiation of ovarian from non-ovarian pelvic masses. Publication Status: Online-Only, [RefSeq, PubMed]; Major granulocyte receptor mediating recognition and efficient opsonin-independent phagocytosis of CEACAM-binding microorganisms, including Neissiria, Moxarella and Haemophilus species, thus playing an important role in the clearance of pathogens by the innate immune system. Responsible for RAC1 stimulation in the course of pathogen phagocytosis., [UniProtKB, PubMed, PubMed]; Phagocytosis mediated by the human granulocyte receptor CEACAM3 is limited by the receptor-type protein tyrosine phosphatase PTPRJ., [RefSeq, PubMed]; Pretreatment controlling nutritional status (CONUT) score and carcinoembryonic antigen level provide tumor progression and prognostic information in gastric cancer: A retrospective study., [RefSeq, PubMed]; This gene encodes a member of the family of carcinoembryonic antigen-related cell adhesion molecules (CEACAMs), which are used by several bacterial pathogens to bind and invade host cells. The encoded transmembrane protein directs phagocytosis of several bacterial species that is dependent on the small GTPase Rac. It is thought to serve an important role in controlling human-specific pathogens by the innate immune system. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "G5E978;Q3KPH9", "ec_number_list": [], "go_molecular_function": "GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0035579 specific granule membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0002682 regulation of immune system process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P40198-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41208-1", "uniprot_id": [ { "id": "CETN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P41208", "type": "external" } ], "mass": 19738.0, "length": 172, "protein_name": "Centrin-2", "gene_name": "CETN2", "organism": "Human", "refseq_name": "centrin-2", "refseq_ac": [ { "id": "NP_004335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004335", "type": "external" } ], "gene_names_uniprotkb": "CETN2; CALT; CEN2", "gene_names_refseq": "CALT; CEN2; CETN2", "protein_names_uniprotkb": "Centrin-2; Caltractin isoform 1", "protein_names_refseq": "caltractin (20kD calcium-binding protein); centrin, EF-hand protein, 2; centrin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:1069); (R-HSA-2565942); (R-HSA-3108214); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5696394); (R-HSA-5696395); (R-HSA-8854518)", "pathway_count": 11, "publication_count": 235, "publication_id_list": "10391953;10526214;10574707;10734143;10854409;11007478;11076968;11141066;11278856;11279143;11279195;11511374;11792325;11889051;11956313;12080057;12176356;12207013;12221128;12364337;12578356;12732143;12815074;12852856;12944386;13678582;14517266;14580337;14654843;14742321;15175327;15220921;15355988;15356003;15498487;15590680;15608651;15705883;15811629;15823533;15829507;15882621;15940266;15959518;15964821;16030353;16223728;16357211;16411764;16462731;16473935;16478998;16491090;16533048;16608850;16626738;16627479;16678110;16688858;16760425;16810316;16890155;16956364;17000769;17081983;17154534;17287340;17322306;17466625;17466626;17574030;17646400;17693435;17719545;17882165;17948053;18037885;18378770;18452278;18477460;18521620;18566290;18614043;18615013;18625722;18669648;18691969;18694559;18708356;18767875;18801063;19004860;19056823;19081074;19109893;19287951;19596686;19609301;19622798;19651622;19661379;19706679;19713942;19748539;19779455;19940019;19940136;19941824;19956565;20016594;20016603;20068231;20190268;20230748;20308558;20368362;20399632;20558667;20705237;20855601;20876134;20980622;21098080;21135142;21147198;21273506;21284855;21347367;21388382;21406692;21422230;21548880;21550342;21565611;21620453;21725307;21731694;21792235;22081108;22094468;22118460;22179047;22307388;22365832;22433857;22508508;22635276;22641346;22653444;22661230;22751501;23038248;23045548;23141531;23141541;23186163;23253480;23319653;23348840;23352696;23400999;23530209;23591820;23747070;23750026;23751493;23769972;23789104;23871147;23921553;24027577;24053599;24089205;24231678;24469809;24782567;24918055;24982133;25047611;25114211;25154395;25218447;25313408;25505266;25532896;25538220;25645385;26042670;26151477;26354417;26992070;27846572;27869121;28063628;29393594;29493099;29557506;29632046;29786170;30429286;31844290;31848261;31998317;32110738;32157095;32161166;32265295;32387766;32502341;32938616;32983136;33402344;33592498;33968037;34019948;35561310;35580925;36527574;36702832;7559382;7700386;7769006;7790358;8168482;8248209;8692841;8838651;9130708;9412458;9452416;9699634;9716411;9756909;9771713;9885291", "class_list": "", "function": "As a component of the TREX-2 complex, involved in the export of mRNAs to the cytoplasm through the nuclear pores., [UniProtKB, PubMed, PubMed]; Caltractin belongs to a family of calcium-binding proteins and is a structural component of the centrosome. The high level of conservation from algae to humans and its association with the centrosome suggested that caltractin plays a fundamental role in the structure and function of the microtubule-organizing center, possibly required for the proper duplication and segregation of the centrosome. [provided by RefSeq, Jul 2008]., [RefSeq]; High expression of CETN2 is associated with platinum resistance and poor prognosis in epithelial ovarian cancer., [RefSeq, PubMed]; Involved in global genome nucleotide excision repair (GG-NER) by acting as component of the XPC complex. Cooperatively with RAD23B appears to stabilize XPC. In vitro, stimulates DNA binding of the XPC:RAD23B dimer., [UniProtKB]; Plays a fundamental role in microtubule organizing center structure and function. Required for centriole duplication and correct spindle formation. Has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CCP110., [UniProtKB]; The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4T4;Q53XW1", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0031683 G-protein beta/gamma-subunit complex binding;GO:0032795 heterotrimeric G-protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0044615 nuclear pore nuclear basket;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006406 mRNA export from nucleus;GO:0007283 spermatogenesis;GO:0015031 protein transport;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 23.8, "record_id": "P41208-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12798-1", "uniprot_id": [ { "id": "CETN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12798", "type": "external" } ], "mass": 19570.0, "length": 172, "protein_name": "Centrin-1", "gene_name": "CETN1", "organism": "Human", "refseq_name": "centrin-1", "refseq_ac": [ { "id": "NP_004057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004057", "type": "external" } ], "gene_names_uniprotkb": "CETN1; CEN1; CETN", "gene_names_refseq": "CEN1; CETN1; CETN", "protein_names_uniprotkb": "Centrin-1; Caltractin isoform 2", "protein_names_refseq": "EF-hand protein; calcium binding protein; caltractin; centrin, EF-hand protein, 1; centrin-1; testicular tissue protein Li 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:1068); (R-HSA-9613829); (R-HSA-9615710); (R-HSA-9646399)", "pathway_count": 4, "publication_count": 42, "publication_id_list": "10089880;10491388;11082038;11279195;12024216;14675537;16760425;17785525;17846173;18644871;20643351;20797626;21238931;21282471;2204156;23515720;24200693;24918055;25576301;25961502;26118642;27600516;27920218;2799391;28228285;28832583;29242379;29626215;29786170;31217245;31848261;33592498;33717175;34273620;36048845;36125182;36702832;8175926;8662539;9038169;9151685;9864362", "class_list": "", "function": "Conformational scanning of individual EF-hand motifs of calcium sensor protein centrin-1., [RefSeq, PubMed]; Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility., [RefSeq, PubMed]; Human SFI1 and Centrin form a complex critical for centriole architecture and ciliogenesis., [RefSeq, PubMed]; Plays a fundamental role in microtubule-organizing center structure and function (PubMed:8175926). Plays a role in sperm cilia formation (By similarity)., [UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene plays important roles in the determination of centrosome position and segregation, and in the process of microtubule severing. This protein is localized to the centrosome of interphase cells, and redistributes to the region of the spindle poles during mitosis, reflecting the dynamic behavior of the centrosome during the cell cycle. [provided by RefSeq, Jan 2015]., [RefSeq]; These data demonstrate a functional role for CaM binding to CP110 and suggest that CP110 cooperates with CaM and centrin to regulate progression through cytokinesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R536", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0031683 G-protein beta/gamma-subunit complex binding;GO:0032795 heterotrimeric G-protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol", "go_biological_process": "GO:0051301 cell division;GO:0000226 microtubule cytoskeleton organization;GO:0007099 centriole replication", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q12798-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16739-1", "uniprot_id": [ { "id": "CEGT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16739", "type": "external" } ], "mass": 44854.0, "length": 394, "protein_name": "Ceramide glucosyltransferase", "gene_name": "UGCG", "organism": "Human", "refseq_name": "ceramide glucosyltransferase", "refseq_ac": [ { "id": "NP_003349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003349", "type": "external" } ], "gene_names_uniprotkb": "UGCG", "gene_names_refseq": "GCS; GLCT1; UGCG", "protein_names_uniprotkb": "Ceramide glucosyltransferase; 2.4.1.80; GCS; GLCT-1; Glucosylceramide synthase; Glycosylceramide synthase; UDP-glucose ceramide glucosyltransferase; UDP-glucose:N-acylsphingosine D-glucosyltransferase", "protein_names_refseq": "UDP-glucose:N-acylsphingosine D-glucosyltransferase; ceramide glucosyltransferase; glucosylceramide synthase; glycosylceramide synthase", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:7357); (R-HSA-9840309)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;10601645;10748143;10993897;11018043;11283017;11956206;12222957;12668675;12815231;12873973;12888565;1532799;1601877;16934889;20547865;2118655;21654843;22735313;23290777;23746551;23882130;24498430;25502872;25548167;25645385;25892735;27600516;27846572;28228285;28467828;28514659;28832583;28871256;28904123;29242379;29314611;29393594;29417556;29557506;29632046;29632711;29769354;29802621;30315122;30573663;31092671;31217245;31844290;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33298915;33361282;33592498;33717175;33912179;33936100;33968037;34185709;34357683;34433824;34932366;34982351;35051231;35154160;35168060;35251023;35561310;35580925;36010968;36215666;36910965;37004877;38499619;38542193;39307111;7876235;7890749;8643456;8830034;8910600;8920913;9030544;9125199;9199191;9545298;9582303;9822625", "class_list": "glycogene;glycosyltransferase", "function": "Glucosylceramide in T cells regulates the pathology of inflammatory bowel disease., [RefSeq, PubMed]; Ligand Activation of the Aryl Hydrocarbon Receptor Upregulates Epidermal Uridine Diphosphate Glucose Ceramide Glucosyltransferase and Glucosylceramides., [RefSeq, PubMed]; Participates in the initial step of the glucosylceramide-based glycosphingolipid/GSL synthetic pathway at the cytosolic surface of the Golgi (PubMed:1532799, PubMed:8643456). Catalyzes the transfer of glucose from UDP-glucose to ceramide to produce glucosylceramide/GlcCer (such as beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine) (PubMed:1532799, PubMed:8643456). GlcCer is the core component of glycosphingolipids/GSLs, amphipathic molecules consisting of a ceramide lipid moiety embedded in the outer leaflet of the membrane, linked to one of hundreds of different externally oriented oligosaccharide structures (PubMed:8643456). Glycosphingolipids are essential components of membrane microdomains that mediate membrane trafficking and signal transduction, implicated in many fundamental cellular processes, including growth, differentiation, migration, morphogenesis, cell-to-cell and cell-to-matrix interactions (By similarity). They are required for instance in the proper development and functioning of the nervous system (By similarity). As an example of their role in signal transduction, they regulate the leptin receptor/LEPR in the leptin-mediated signaling pathway (By similarity). They also play an important role in the establishment of the skin barrier regulating keratinocyte differentiation and the proper assembly of the cornified envelope (By similarity). The biosynthesis of GSLs is also required for the proper intestinal endocytic uptake of nutritional lipids (By similarity). Catalyzes the synthesis of xylosylceramide/XylCer (such as beta-D-xylosyl-(1<->1')-N-acylsphing-4-enine) using UDP-Xyl as xylose donor (PubMed:33361282)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Peripheral Upregulation of Parkinson's Disease-Associated Genes Encoding alpha-Synuclein, beta-Glucocerebrosidase, and Ceramide Glucosyltransferase in Major Depression. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting glucosylceramide synthase induces antiproliferative and proapoptotic effects in osimertinib-resistant NSCLC cell models. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]., [RefSeq]; UDP-glucose ceramide glucosyltransferase specifically upregulated in plasmacytoid dendritic cells regulates type I interferon production upon CpG stimulation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 1, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 1, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 299, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5T258", "ec_number_list": [ { "id": "2.4.1.80", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.80", "type": "external" } ], "go_molecular_function": "GO:0008120 ceramide glucosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0030154 cell differentiation;GO:0061436 establishment of skin barrier;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q16739-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000011000000.010.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q52M75-1", "uniprot_id": [ { "id": "CE027_HUMAN", "url": "https://www.uniprot.org/uniprot/Q52M75", "type": "external" } ], "mass": 10857.0, "length": 96, "protein_name": "Putative uncharacterized protein encoded by LINC01554", "gene_name": "LINC01554", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01554; C5orf27", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01554; Protein FIS", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBN1;Q86YS4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q52M75-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T1J5-1", "uniprot_id": [ { "id": "CHCH9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T1J5", "type": "external" } ], "mass": 15490.0, "length": 151, "protein_name": "Putative coiled-coil-helix-coiled-coil-helix domain-containing protein CHCHD2P9, mitochondrial", "gene_name": "CHCHD2P9", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CHCHD2P9; C9orf49; CHCHD9", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative coiled-coil-helix-coiled-coil-helix domain-containing protein CHCHD2P9, mitochondrial; Coiled-coil-helix-coiled-coil-helix domain-containing 2 pseudogene 9", "protein_names_refseq": "", "tax_id": 9606, "disease": "frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (Disease Ontology:DOID:0060214); Parkinson's disease 22 (Disease Ontology:DOID:0080504); spinal muscular atrophy, Jokela type (Disease Ontology:DOID:0081356); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "23301498;24715725;25810538;26154972;27846572;28510447;31373491;31844290;32488085;32502341;33141586;35051231;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007005 mitochondrion organization", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q5T1J5-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T280-1", "uniprot_id": [ { "id": "SPOUT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T280", "type": "external" } ], "mass": 42009.0, "length": 376, "protein_name": "28S rRNA (uridine-N(3))-methyltransferase", "gene_name": "SPOUT1", "organism": "Human", "refseq_name": "28S rRNA (uridine-N(3))-methyltransferase", "refseq_ac": [ { "id": "NP_057474", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057474", "type": "external" } ], "gene_names_uniprotkb": "SPOUT1; C9orf114", "gene_names_refseq": "C9orf114; CENP-32; CENP32; HSPC109; NEDGSB; SPOUT1", "protein_names_uniprotkb": "28S rRNA (uridine-N(3))-methyltransferase; 2.1.1.-; CENP-32; Centromere protein 32; Kinetochore-associated protein; Methyltransferase C9orf114; Ribosomal RNA methyltransferase SPOUT1; SPOUT domain-containing methyltransferase 1", "protein_names_refseq": "28S rRNA (uridine-N(3))-methyltransferase; centromere protein 32; kinetochore-associated protein; putative methyltransferase C9orf114; ribosomal RNA methyltransferase SPOUT1", "tax_id": 9606, "disease": "neurodevelopmental disorder with poor growth, seizures, and brain abnormalities (MONDO:MONDO:0976265)", "pathway": " (hsa:51490)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;20068231;20813266;21750715;23481700;25418920;25657325;25880248;26992070;28228285;28431233;28514659;28832583;28834231;29242379;29508533;29557506;29632711;29786170;30429286;30484775;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33912179;33968037;33981976;34087483;34561969;35051231;36010968;39671501;39962046", "class_list": "", "function": "CENP-32 appears to be required for centrosomes to integrate into a fully functional spindle that not only nucleates astral microtubules, but also is able to nucleate and bind to kinetochore and central spindle microtubules., [RefSeq, PubMed]; S-adenosyl-L-methionine-dependent RNA methyltransferase (PubMed:39671501, PubMed:39962046). Specifically methylates the N3 position of a uridine in 28S rRNA (PubMed:39671501). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase, ensuring proper spindle organization (PubMed:20813266, PubMed:25657325, PubMed:39962046). Also involved in chromosome alignment (PubMed:20813266). May promote centrosome maturation probably by recruiting A-kinase anchor protein AKAP9 to centrosomes in early mitosis (PubMed:25657325). Binds specifically to miRNA MIR145 hairpin, regulates MIR145 expression at a postranscriptional level (PubMed:28431233)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0D2P6;Q6P469;Q6PGP9;Q6PIJ1;Q6PJV9", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008168 methyltransferase activity;GO:0035198 miRNA binding;GO:0070042 rRNA (uridine-N3-)-methyltransferase activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "GO:0000776 kinetochore;GO:0031616 spindle pole centrosome;GO:0072686 mitotic spindle", "go_biological_process": "GO:0051301 cell division;GO:0010608 post-transcriptional regulation of gene expression;GO:0051661 maintenance of centrosome location;GO:0035196 miRNA processing;GO:0070475 rRNA base methylation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q5T280-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T5N4-1", "uniprot_id": [ { "id": "CF118_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T5N4", "type": "external" } ], "mass": 53772.0, "length": 469, "protein_name": "Uncharacterized protein C6orf118", "gene_name": "C6orf118", "organism": "Human", "refseq_name": "uncharacterized protein C6orf118", "refseq_ac": [ { "id": "NP_659417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659417", "type": "external" } ], "gene_names_uniprotkb": "C6orf118", "gene_names_refseq": "C6orf118; bA85G2.1; dJ416F21.2", "protein_names_uniprotkb": "Uncharacterized protein C6orf118", "protein_names_refseq": "uncharacterized protein C6orf118", "tax_id": 9606, "disease": "", "pathway": " (hsa:168090)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "28355295;28904123;31848261", "class_list": "", "function": "Data indicate that an intergenic single nucleotide polymorphisms (SNPs), rs9365798, located downstream of the C6orf118 gene showed the most significant association. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8TC11", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5T5N4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TB80-1", "uniprot_id": [ { "id": "CE162_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TB80", "type": "external" } ], "mass": 161943.0, "length": 1403, "protein_name": "Centrosomal protein of 162 kDa", "gene_name": "CEP162", "organism": "Human", "refseq_name": "centrosomal protein of 162 kDa isoform b", "refseq_ac": [ { "id": "NP_001273135", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273135", "type": "external" } ], "gene_names_uniprotkb": "CEP162; C6orf84; KIAA1009; QN1", "gene_names_refseq": "C6orf84; CEP162; KIAA1009; QN1", "protein_names_uniprotkb": "Centrosomal protein of 162 kDa; Cep162; Protein QN1 homolog", "protein_names_refseq": "centrosomal protein 162kDa; centrosomal protein of 162 kDa isoform b; centrosomal protein of 162 kDa; protein QN1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:22832); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "11237011;11521196;15275975;16302001;16357211;17574030;17646400;17719545;17924679;18037885;18694559;18801063;19004860;19007248;19081074;19690332;19940019;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22433857;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23644468;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24982133;25047611;25313408;25576301;27846572;28411811;29242379;29437277;30379171;31844290;32157095;32350084;32387766;32502341;32938616;33392160;33912179;33968037;33981976;35051231;36010968;36862503;37066695", "class_list": "", "function": "CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; CEP162 is an axoneme-recognition protein pre-tethered at centriole distal ends before ciliogenesis to promote and restrict transition zone formation specifically at the cilia base., [RefSeq, PubMed]; QN1/KIAA1009 is a new microtubule-associated ATPase involved in cell division, [RefSeq, PubMed]; Required to promote assembly of the transition zone in primary cilia. Acts by specifically recognizing and binding the axonemal microtubule. Localizes to the distal ends of centrioles before ciliogenesis and directly binds to axonemal microtubule, thereby promoting and restricting transition zone formation specifically at the cilia base. Required to mediate CEP290 association with microtubules., [UniProtKB, PubMed]; The association of five polymorphisms with diabetic retinopathy in a Chinese population., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6PVL7;A6PVL8;Q6P475;Q9Y2L2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol;GO:0005814 centriole", "go_biological_process": "GO:0060271 cilium assembly;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q5TB80-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TEZ4-1", "uniprot_id": [ { "id": "CF164_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TEZ4", "type": "external" } ], "mass": 8388.0, "length": 76, "protein_name": "Putative uncharacterized protein encoded by LINC01590", "gene_name": "LINC01590", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC01590; C6orf164", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC01590; Long intergenic non-protein coding RNA 1590", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NM89", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5TEZ4-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TEZ5-1", "uniprot_id": [ { "id": "CF163_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TEZ5", "type": "external" } ], "mass": 38553.0, "length": 329, "protein_name": "Uncharacterized protein C6orf163", "gene_name": "C6orf163", "organism": "Human", "refseq_name": "uncharacterized protein C6orf163", "refseq_ac": [ { "id": "NP_001010868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010868", "type": "external" } ], "gene_names_uniprotkb": "C6orf163", "gene_names_refseq": "C6orf163", "protein_names_uniprotkb": "Uncharacterized protein C6orf163", "protein_names_refseq": "uncharacterized protein C6orf163", "tax_id": 9606, "disease": "", "pathway": " (hsa:206412)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;39531497;39894887", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5TEZ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VV42-1", "uniprot_id": [ { "id": "CDKAL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VV42", "type": "external" } ], "mass": 65111.0, "length": 579, "protein_name": "Threonylcarbamoyladenosine tRNA methylthiotransferase", "gene_name": "CDKAL1", "organism": "Human", "refseq_name": "threonylcarbamoyladenosine tRNA methylthiotransferase", "refseq_ac": [ { "id": "NP_060244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060244", "type": "external" } ], "gene_names_uniprotkb": "CDKAL1", "gene_names_refseq": "CDKAL1", "protein_names_uniprotkb": "Threonylcarbamoyladenosine tRNA methylthiotransferase; 2.8.4.5; CDK5 regulatory subunit-associated protein 1-like 1; tRNA-t(6)A37 methylthiotransferase", "protein_names_refseq": "CDK5 regulatory subunit associated protein 1 like 1; tRNA-t(6)A37 methylthiotransferase; threonylcarbamoyladenosine tRNA methylthiotransferase", "tax_id": 9606, "disease": "gestational diabetes (Disease Ontology:DOID:11714); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:54901); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10430867;10982862;11027153;11111046;12403464;15861136;15870694;15994936;16043508;16424344;17071714;17460697;17463246;17463248;17463249;18567810;18669648;18991276;19017811;19414587;20112406;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22424782;22591353;22995836;23042678;23048041;23186163;23381944;23604283;24126054;24204302;24715725;24901367;25261850;25404562;25505266;25576301;25880248;25916855;26154972;26160102;26310293;26992070;27055666;27846572;27862975;28904123;29493099;29557506;30429286;30484775;31217245;31481669;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33465208;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35154160;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36610787;37055162;37245423;37308106;37628646;38237400;9430663;9851972", "class_list": "", "function": "Association of the CDKAL1 gene polymorphism with gestational diabetes mellitus in Chinese women., [RefSeq, PubMed]; CDC123 promotes Hepatocellular Carcinoma malignant progression by regulating CDKAL1., [RefSeq, PubMed]; Catalyzes the methylthiolation of N6-threonylcarbamoyladenosine (t(6)A), leading to the formation of 2-methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine., [UniProtKB, UniProtKB]; Common and Distinct Genetic Architecture of Age at Diagnosis of Diabetes in South Indian and European Populations., [RefSeq, PubMed]; Hepatic Cdkal1 deletion regulates HDL catabolism and promotes reverse cholesterol transport., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Science. 2007 Aug 24;317(5841):1035-6], [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Single Nucleotide polymorphism in CDK5 regulatory subunit associated protein 1-like 1 is associated with type 2 diabetes GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The Association between CDKAL1 Gene rs10946398 Polymorphism and Post-Transplant Diabetes in Kidney Allograft Recipients Treated with Tacrolimus. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K6S0;Q6P385;Q6ZR27;Q9NXB3", "ec_number_list": [ { "id": "2.8.4.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.4.5", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0035598 tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005791 rough endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0035600 tRNA methylthiolation", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q5VV42-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IPW1-1", "uniprot_id": [ { "id": "CK071_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IPW1", "type": "external" } ], "mass": 13249.0, "length": 123, "protein_name": "Uncharacterized protein C11orf71", "gene_name": "C11orf71", "organism": "Human", "refseq_name": "uncharacterized protein C11orf71 isoform 1", "refseq_ac": [ { "id": "NP_001258491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258491", "type": "external" } ], "gene_names_uniprotkb": "C11orf71", "gene_names_refseq": "C11orf71; URLC7", "protein_names_uniprotkb": "Uncharacterized protein C11orf71", "protein_names_refseq": "uncharacterized protein C11orf71 isoform 1; uncharacterized protein C11orf71; up-regulated in lung cancer 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:54494)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "27862975;28228285;29557506;29786170;30315122;31154438;31844290;31848261;32157095;32387766;32983136;33298915;33592498;33968037;34509645;34932366;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IAD3;Q9NXX1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q6IPW1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWK7-1", "uniprot_id": [ { "id": "GP15L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWK7", "type": "external" } ], "mass": 9173.0, "length": 81, "protein_name": "Protein GPR15LG", "gene_name": "GPR15LG", "organism": "Human", "refseq_name": "protein GPR15LG precursor", "refseq_ac": [ { "id": "NP_997256", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997256", "type": "external" } ], "gene_names_uniprotkb": "GPR15LG; C10orf99; GPR15L; PRO3446", "gene_names_refseq": "AP-57; AP57; C10orf99; CSBF; GPR15LG; GPR15L; UNQ1833", "protein_names_uniprotkb": "Protein GPR15LG; AP-57; Antimicrobial peptide with 57 amino acid residues; Antimicrobial peptide-57; CSBF; Colon-derived SUSD2 binding factor; Protein GPR15 ligand; Protein GPR15L; Secreted protein C10orf99", "protein_names_refseq": "RLLV1833; anti-microbial peptide with 57 amino acid residues; antimicrobial peptide with 57 amino acid residues; antimicrobial peptide-57; colon-derived SUSD2 binding factor; protein GPR15 ligand; protein GPR15LG precursor; protein GPR15LG; protein GPR15L; secreted protein C10orf99", "tax_id": 9606, "disease": "", "pathway": " (hsa:387695)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12975309;25351403;25585381;28900043;28936214;29872130;35704588;38393364", "class_list": "", "function": "Compared with other antimicrobial peptides, AP-57 has its distinct characteristics, including longer sequence length, four cysteines, highly cationic character, cell-specific toxicity, DNA binding and tissue-specific expressing patterns., [RefSeq, PubMed]; GPR15LG regulates psoriasis-like inflammation by down-regulating inflammatory factors on keratinocytes., [RefSeq, PubMed]; Has antimicrobial activity against Gram-positive bacteria, including Staphylococcus aureus and Actinomyces spec., and Mycoplasma hominis and lentivirus (PubMed:25585381)., [UniProtKB, PubMed]; Highly cationic protein that has multiple functions. Acts as a chemotactic factor that mediates lymphocytes recruitment to epithelia through binding and activation of the G protein-coupled receptor GPR15 (PubMed:28900043, PubMed:28936214). May be a tumor suppressor; together with SUSD2 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest (PubMed:25351403). May regulate keratinocyte proliferation (PubMed:29872130). In addition, through activation of Mas-related G protein-coupled receptors (MRGPRs) contributes to pruritogenesis by activating itch-selective sensory neurons and mast cells degranulation (PubMed:35704588)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0001664 G protein-coupled receptor binding;GO:0048018 receptor ligand activity;GO:0008009 chemokine activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0050830 defense response to Gram-positive bacterium;GO:0048247 lymphocyte chemotaxis;GO:0043029 T cell homeostasis;GO:0051782 negative regulation of cell division", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6UWK7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWT4-1", "uniprot_id": [ { "id": "CE046_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWT4", "type": "external" } ], "mass": 9693.0, "length": 87, "protein_name": "Uncharacterized protein C5orf46", "gene_name": "C5orf46", "organism": "Human", "refseq_name": "uncharacterized protein C5orf46 precursor", "refseq_ac": [ { "id": "NP_996849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996849", "type": "external" } ], "gene_names_uniprotkb": "C5orf46; PRO839", "gene_names_refseq": "AP-64; C5orf46; SSSP1", "protein_names_uniprotkb": "Uncharacterized protein C5orf46", "protein_names_refseq": "CTC-327F10.5; skin and saliva secreted protein 1; uncharacterized protein C5orf46 precursor; uncharacterized protein C5orf46", "tax_id": 9606, "disease": "", "pathway": " (hsa:389336)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "12975309", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K038;Q8WU04", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6UWT4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWU4-1", "uniprot_id": [ { "id": "CF089_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWU4", "type": "external" } ], "mass": 39870.0, "length": 347, "protein_name": "Bombesin receptor-activated protein C6orf89", "gene_name": "C6orf89", "organism": "Human", "refseq_name": "bombesin receptor-activated protein C6orf89 isoform b", "refseq_ac": [ { "id": "NP_001273564", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273564", "type": "external" } ], "gene_names_uniprotkb": "C6orf89; BRAP; PRO203", "gene_names_refseq": "BRAP; C6orf89; PS1TP5TP1", "protein_names_uniprotkb": "Bombesin receptor-activated protein C6orf89; Amfion", "protein_names_refseq": "amfion; bombesin receptor-activated protein C6orf89 isoform b; bombesin receptor-activated protein C6orf89", "tax_id": 9606, "disease": "", "pathway": " (hsa:221477)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;12975309;21857995;22930588;23460338;24715725;25576301;25645385;26154972;26375851;26460487;26992070;27600516;27846572;27862975;28218747;28228285;28476309;28514659;28832583;28834231;29242379;29437277;29493099;29557506;29632711;29786170;30315122;30410026;30429286;30573663;30779550;31154438;31844290;31848261;32157095;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33968037;34509645;35051231;35580925;36284347;40596516", "class_list": "", "function": "C60rf89 is a gene that encodes three distinct proteins with the capacity to enhance the activity of histone deacetylases (HDACs) in the nucleolus, the Golgi and the midbody GeneRIF: C6orf89 encodes one soluble and two type II membrane proteins that function as histone deacetylase enhancers. The 34sp is selectively targeted to the nucleolus and is retained in nucleolar organizer regions in mitotic cells. The 34sp is integrated into the ribosomal gene transcription machinery and is relocalized to the nucleolus upon the arrest of rDNA transcription, protein synthesis, and PI3K/mTORC signalling., [RefSeq, PubMed]; Data indicate that bombesin receptor-activated protein (BRAP) might increase histone deacetylases 1/2 (HDAC) activity that leads to NF-kappa B (NF-kappaB) activation via its putative C-terminal domain., [RefSeq, PubMed]; Data show that BRAP locates in the membrane and cytoplasm, suggesting that this protein is a cytoplasm protein, which promotes cell cycle and wound repair of HBECs., [RefSeq, PubMed]; Exhibits histone deacetylase (HDAC) enhancer properties (PubMed:23460338). May play a role in cell cycle progression and wound repair of bronchial epithelial cells (PubMed:21857995)., [UniProtKB, PubMed, PubMed]; Overexpression of BRAP may play a role during the antigen presenting process of bronchial epithelium by inhibiting the antigen uptake ability of bronchial epithelial cells., [RefSeq, PubMed]; Results suggest BRAP plays an important role in airway inflammation and its overexpression may regulate NE-induced MUC5AC hypersecretion in HBE16 cells via the EGFR/ERK/NF-kappaB signaling pathway, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DTT1;B7Z9L9;F4NAR0;F4NAR1;Q5TDC5;Q6ZMG5;Q7Z356;Q8IZ35", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030496 midbody", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0045787 positive regulation of cell cycle;GO:0042060 wound healing;GO:0050673 epithelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q6UWU4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXA7-1", "uniprot_id": [ { "id": "CF015_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXA7", "type": "external" } ], "mass": 34195.0, "length": 325, "protein_name": "Uncharacterized protein C6orf15", "gene_name": "C6orf15", "organism": "Human", "refseq_name": "uncharacterized protein C6orf15 precursor", "refseq_ac": [ { "id": "NP_054789", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054789", "type": "external" } ], "gene_names_uniprotkb": "C6orf15; PRO3566; STG", "gene_names_refseq": "C6orf15; STG", "protein_names_uniprotkb": "Uncharacterized protein C6orf15; Protein STG", "protein_names_refseq": "simian taste bud-specific; taste bud-specific protein; uncharacterized protein C6orf15 precursor; uncharacterized protein C6orf15", "tax_id": 9606, "disease": "", "pathway": " (hsa:29113)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10.1074/mcp.M114.046862;10545595;12975309;15217361;16702430;25813380;29242379;37054577;38547762", "class_list": "", "function": "C6orf15 acts as a potential novel marker of adverse pathological features and prognosis for colon cancer., [RefSeq, PubMed]; Differential diagnosis of gastric low- and high grade dysplasia using C6orf15 protein., [RefSeq, PubMed]; STG is expressed in taste buds, skin and tonsils, and does not associate with psoriasis in the Swedish population, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0S7V8;Q0EFA6;Q2L6G7;Q5SQ81;Q86Z05;Q9UIG3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "GO:0030198 extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6UXA7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMG9-1", "uniprot_id": [ { "id": "CERS6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMG9", "type": "external" } ], "mass": 44890.0, "length": 384, "protein_name": "Ceramide synthase 6", "gene_name": "CERS6", "organism": "Human", "refseq_name": "ceramide synthase 6 isoform 1", "refseq_ac": [ { "id": "NP_001243055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243055", "type": "external" } ], "gene_names_uniprotkb": "CERS6; LASS6", "gene_names_refseq": "CERS6; LASS6", "protein_names_uniprotkb": "Ceramide synthase 6; 2.3.1.-; 2.3.1.24; 2.3.1.291; CerS6; LAG1 longevity assurance homolog 6; Sphingoid base N-palmitoyltransferase CERS6; Sphingosine N-acyltransferase CERS6", "protein_names_refseq": "LAG1 homolog, ceramide synthase 6; ceramide synthase 6 isoform 1; longevity assurance homolog 6; sphingoid base N-palmitoyltransferase CERS6", "tax_id": 9606, "disease": "", "pathway": " (hsa:253782); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 129, "publication_id_list": "10.1101/2023.09.13.557529;10722674;10751414;10802064;10947957;11937514;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17609214;17977534;17982138;18165232;18165233;18184806;19005213;19159218;19233134;19416851;19506037;19723703;20061445;20110355;20112406;20182505;21620961;22517924;22970244;23180825;23481700;23530041;23602659;23754960;24190977;24569996;24782409;25295788;25418920;25576301;25645385;25788259;25892735;26154972;26375851;26811146;26887952;26992070;27846572;27920218;28218747;28575652;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29563527;29632046;29632068;29741879;29769354;29786170;30315122;30410026;30429286;30524438;30833945;31154438;31844290;31895563;31916624;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33717175;33968037;33981976;34019948;34087483;34171305;34488809;34509645;34915026;34932366;35051231;35409383;35580925;35676548;36010968;36215666;36902339;36907437;37074911;37224812;37230220;37390971;37714377;38665916;39528795;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "CerS6 triggered by high glucose activating the TLR4/IKKbeta pathway regulates ferroptosis of LO2 cells through mitochondrial oxidative stress., [RefSeq, PubMed]; Ceramide synthase 6 (CerS6) is upregulated in alcohol-associated liver disease and exhibits sex-based differences in the regulation of energy homeostasis and lipid droplet accumulation., [RefSeq, PubMed]; Ceramide synthase that catalyzes the transfer of the fatty acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward palmitoyl-CoA (hexadecanoyl-CoA; C16:0-CoA) (PubMed:17609214, PubMed:17977534, PubMed:23530041, PubMed:26887952, PubMed:31916624, PubMed:39528795). Can use different sphingoid bases as substrates for ceramide synthesis, such as sphinganine in de novo synthesis, and sphing-4E-enine (sphingosine), (4R)-hydroxysphinganine (phytosphingosine) or sphinga-4E,14Z-dienine in salvage pathways (PubMed:17977534, PubMed:23530041, PubMed:26887952, PubMed:31916624). Other fatty acyl-CoAs such as long-chain saturated stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA), myristoyl-CoA (tetradecanoyl-CoA; C14:0-CoA), and monounsaturated oleoyl-CoA (9Z-octadecenoyl-CoA; C18:1-CoA) can also act as acyl donors, but with less efficiency than hexadecanoyl-CoA (PubMed:39528795). Ceramides generated by CERS6 play a role in inflammatory response (By similarity). Acts as a regulator of metabolism and hepatic lipid accumulation (By similarity). Under high fat diet, palmitoyl- (C16:0-) ceramides generated by CERS6 specifically bind the mitochondrial fission factor MFF, thereby promoting mitochondrial fragmentation and contributing to the development of obesity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; CircCERS6 Suppresses the Development of Epithelial Ovarian Cancer Through Mediating miR-630/RASSF8., [RefSeq, PubMed]; Comprehensive analysis of LASS6 expression and prognostic value in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Dependence of ABCB1 transporter expression and function on distinct sphingolipids generated by ceramide synthases-2 and -6 in chemoresistant renal cancer., [RefSeq, PubMed]; Mechanistically, regulation of ER-stress-induced apoptosis by CerS6/C(16)-ceramide was linked to the activation of a specific arm, ATF6/CHOP, of the unfolded protein response pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 415, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q32M63;Q8N617", "ec_number_list": [ { "id": "2.3.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.24", "type": "external" }, { "id": "2.3.1.299", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.299", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.291", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.291", "type": "external" }, { "id": "2.3.1.298", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.298", "type": "external" }, { "id": "2.3.1.297", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.297", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0050291 sphingosine N-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0046513 ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "Q6ZMG9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZTQ4-1", "uniprot_id": [ { "id": "CDHR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZTQ4", "type": "external" } ], "mass": 97977.0, "length": 885, "protein_name": "Cadherin-related family member 3", "gene_name": "CDHR3", "organism": "Human", "refseq_name": "cadherin-related family member 3 isoform 2", "refseq_ac": [ { "id": "NP_001288090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288090", "type": "external" } ], "gene_names_uniprotkb": "CDHR3; CDH28", "gene_names_refseq": "CDH28; CDHR3", "protein_names_uniprotkb": "Cadherin-related family member 3; Cadherin-like protein 28", "protein_names_refseq": "cadherin-like protein 28; cadherin-related family member 3 isoform 2", "tax_id": 9606, "disease": "bacterial infectious disease (Disease Ontology:DOID:104); allergic disease (Disease Ontology:DOID:1205); obstructive lung disease (Disease Ontology:DOID:2320); asthma (Disease Ontology:DOID:2841); bronchiolitis (Disease Ontology:DOID:2942); allergic asthma (Disease Ontology:DOID:9415)", "pathway": " (hsa:222256)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;24241537;25848009;26270739;29557506;30532249;32152109;32615023;33213402;34087483;34171305;34322716;35051231;35381269;36215666", "class_list": "", "function": "(Microbial infection) Acts as a receptor for human rhinovirus C., [UniProtKB, PubMed, PubMed]; CDHR3 is a susceptibility locus for early childhood Asthma with severe exacerbations. Review article, [RefSeq, PubMed]; Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types., [UniProtKB, UniProtKB, UniProtKB]; Genetic impact of CDHR3 on the adult onset of asthma and COPD., [RefSeq, PubMed]; Genome-wide study of early and severe childhood asthma identifies interaction between CDHR3 and GSDMB., [RefSeq, PubMed]; Polymorphisms in the airway epithelium related genes CDHR3 and EMSY are associated with asthma susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]; The asthma susceptibility gene product CDHR3 mediates RV-C entry into host cells, and suggest that rs6967330 mutation could be a risk factor for RV-C wheezing illnesses., [RefSeq, PubMed]; The role of CDHR3 in susceptibility to otitis media., [RefSeq, PubMed]; The role of CDHR3 variants in the development of asthma with severe exacerbations based on genome-wide association study in Denmark, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 1, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 1, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q8TCI7", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0001618 virus receptor activity;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0016342 catenin complex;GO:0016020 membrane", "go_biological_process": "GO:0016477 cell migration;GO:0000902 cell morphogenesis;GO:0007043 cell-cell junction assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0034332 adherens junction organization", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q6ZTQ4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000111000.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZV77-1", "uniprot_id": [ { "id": "CI139_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZV77", "type": "external" } ], "mass": 20001.0, "length": 190, "protein_name": "Putative uncharacterized protein LINC02908", "gene_name": "LINC02908", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC02908; C9orf139", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LINC02908; Long intergenic non-protein coding RNA 2908", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RUA3;B9EGW2;Q5SPY0;Q8N224", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q6ZV77-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X83-1", "uniprot_id": [ { "id": "COMD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X83", "type": "external" } ], "mass": 22745.0, "length": 199, "protein_name": "COMM domain-containing protein 2", "gene_name": "COMMD2", "organism": "Human", "refseq_name": "COMM domain-containing protein 2", "refseq_ac": [ { "id": "NP_057178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057178", "type": "external" } ], "gene_names_uniprotkb": "COMMD2; HSPC042; My004", "gene_names_refseq": "COMMD2; HSPC042", "protein_names_uniprotkb": "COMM domain-containing protein 2", "protein_names_refseq": "COMM domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51122); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 178, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17697703;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22544926;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23637203;23912815;23986495;24076655;24366543;24366607;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25645385;25880248;26154972;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27600516;27846572;27862975;27920218;28115426;28228285;28510447;28832583;28834231;28892079;28904123;29153394;29242379;29393594;29493099;29557506;29786170;30315122;30429286;30524438;30610225;30779550;31154438;31530632;31844290;31848261;31937595;31998317;32005965;32157095;32161166;32265295;32284348;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33444648;33592498;33691108;33717175;33912179;33968037;33981976;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36205192;36284347;37172566;37938771;38459129;9790970;9887101;9891082", "class_list": "", "function": "Multi-omics analysis of the oncogenic value of copper Metabolism-Related protein COMMD2 in human cancers., [RefSeq, PubMed]; Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q561V4;Q9H3L5;Q9Y5V1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q86X83-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P38919-1", "uniprot_id": [ { "id": "IF4A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P38919", "type": "external" } ], "mass": 46871.0, "length": 411, "protein_name": "Eukaryotic initiation factor 4A-III", "gene_name": "EIF4A3", "organism": "Human", "refseq_name": "eukaryotic initiation factor 4A-III isoform 1", "refseq_ac": [ { "id": "NP_055555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055555", "type": "external" } ], "gene_names_uniprotkb": "EIF4A3; DDX48; KIAA0111", "gene_names_refseq": "DDX48; EIF4A3; Fal1; MUK34; NMP265; NUK34; RCPS; eIF-4A-III; eIF4A-III; eIF4AIII", "protein_names_uniprotkb": "Eukaryotic initiation factor 4A-III; 3.6.4.13; ATP-dependent RNA helicase DDX48; ATP-dependent RNA helicase eIF4A-3; DEAD box protein 48; Eukaryotic initiation factor 4A-like NUK-34; Eukaryotic translation initiation factor 4A isoform 3; NMP 265; Nuclear matrix protein 265; eIF-4A-III; eIF4A-III; hNMP 265", "protein_names_refseq": "ATP-dependent RNA helicase DDX48; ATP-dependent RNA helicase eIF4A-3; DEAD (Asp-Glu-Ala-Asp) box polypeptide 48; DEAD box protein 48; NMP 265; eukaryotic initiation factor 4A-III isoform 1; eukaryotic initiation factor 4A-III; eukaryotic initiation factor 4A-like NUK-34; nuclear matrix protein 265", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); pancreatic cancer (Disease Ontology:DOID:1793); Richieri Costa-Pereira syndrome (MONDO:MONDO:0009998)", "pathway": " (hsa:9775); (R-HSA-1169408); (R-HSA-159236); (R-HSA-429947); (R-HSA-72163); (R-HSA-72187); (R-HSA-9010553); (R-HSA-975957); (R-HSA-9820841); (R-HSA-9820865); (R-HSA-9918481); (R-HSA-9918487)", "pathway_count": 12, "publication_count": 384, "publication_id_list": "10228171;10323864;10489353;10623621;10637334;10668806;10882114;10882133;11014198;11073998;11095724;11101529;11112487;11157743;11233976;11237011;11256625;11259411;11259602;11283721;11331269;11532962;11544179;11546874;11551508;11579093;11739738;11747608;11756420;11788588;11889047;11979277;11991638;12093754;12176931;12411573;12414731;12417715;12477934;12525615;12554878;12582176;12718880;12832468;12871933;1355481;14519844;14527413;14583602;14625303;14636577;14713954;14730019;14742663;14749774;14762106;14973490;15034551;15084397;15131269;15475613;15485925;15546618;15702989;15715967;15721257;15998806;16009940;16112642;16122702;16139798;16141059;16170325;16186820;16209946;16284618;16314397;16314458;16352599;16407192;16428300;16452507;16495234;16601204;16699525;16715065;16775314;16809785;16815975;16872604;16914094;16923391;16931718;17000901;17052452;17053788;17081983;17095540;17190602;17245413;17289916;17332742;17352659;17363904;17375189;17376915;17595167;17606899;17803942;17893241;17984224;18066079;18256688;18287095;18305167;18322460;18364396;18411249;18423201;18423202;18524595;18583345;18593880;18625844;18657639;18669648;18691976;18957205;18974281;19007248;19033377;19060897;19073728;19103666;19125153;19150429;19165350;19239894;19270716;19359157;19409878;19413330;19417104;19478851;19503078;19536130;19556969;19558367;19608861;19615748;19651622;19691289;19706539;19836239;19859661;19909264;20023408;20068231;20129943;20133869;20219937;20308324;20385878;20423332;20479275;20573985;20691628;20817927;20844015;20930030;20980672;21145460;21406692;21419344;21536652;2176635;21911577;21947206;22110043;22121020;22203037;22207203;22223895;22365833;22424782;22706990;22893130;22928037;22959432;22961380;23085078;23186163;23217742;23222130;23234702;23236153;23299939;23345524;23481700;23746841;23783831;23826332;23917022;24196718;24218557;24244187;24304693;24360810;24366607;24397554;24448447;24714562;24715725;24737827;24914973;25218447;25220460;25242263;25418920;25480299;25555158;25576301;2558966;25645385;25662211;25755297;25772364;25802875;25836925;25892735;26092250;26154972;26375851;26382858;26385511;26420826;26735137;26811146;26853435;26929215;26969736;26992070;27108190;27377154;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28218747;28228285;28446606;28502770;28649982;28781166;28832583;28904123;29117567;29242379;29301961;29351928;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30315122;30315277;30379171;30410026;30429286;30524438;30538148;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32502391;32522876;32890404;32897882;32938616;32983136;33141586;33177556;33214551;33243851;33298915;33446560;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34301950;34405274;34509645;34561969;34647228;34696522;34725712;34822310;34932366;35051231;35083852;35215846;35318648;35385551;35494241;35561310;35580925;35585045;36010968;36215666;36241641;36284347;37020021;3757028;37938771;38177122;38665916;39085875;39133108;39370864;39894887;40596516;7559393;8566756;8608946;9016565;9099687;9242493;9512519;9524131;9525617;9539711;9618489;9660949;9671485;9701291;9731529", "class_list": "", "function": "ATP-dependent RNA helicase (PubMed:16170325). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:22961380, PubMed:28076346, PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs (PubMed:16170325, PubMed:16209946, PubMed:16314458, PubMed:16923391, PubMed:16931718, PubMed:19033377, PubMed:20479275). The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Its RNA-dependent ATPase and RNA-helicase activities are induced by CASC3, but abolished in presence of the MAGOH-RBM8A heterodimer, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The inhibition of ATPase activity by the MAGOH-RBM8A heterodimer increases the RNA-binding affinity of the EJC. Involved in translational enhancement of spliced mRNAs after formation of the 80S ribosome complex. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Shows higher affinity for single-stranded RNA in an ATP-bound core EJC complex than after the ATP is hydrolyzed. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly (PubMed:22203037). Involved in craniofacial development (PubMed:24360810)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Circular RNA hsa_circ_0000467 promotes colorectal cancer progression by promoting eIF4A3-mediated c-Myc translation. Publication Status: Online-Only, [RefSeq, PubMed]; EIF4A3 is stabilized by the long noncoding RNA BC200 to regulate gene expression during Epstein-Barr virus infection., [RefSeq, PubMed]; EIF4A3-Induced Upregulation of hsa_circ_0049396 Attenuates the Tumorigenesis of Nasopharyngeal Carcinoma by Regulating the Hippo-YAP Pathway., [RefSeq, PubMed]; Identification of eIF4AIII and Barentsz as components of a conserved protein complex that is essential for mRNA localization in flies and nonsense-mediated mRNA decay in mammals, [RefSeq, PubMed]; NMP 265, a common part of the nuclear matrix, is located in the nucleus via an N-terminal amino acid sequence., [RefSeq, PubMed]; This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q15033;Q6IBQ2;Q96A18", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.13.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.4", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "type": "external" }, { "id": "2.7.7.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.48", "type": "external" }, { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0035368 selenocysteine insertion sequence binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005524 ATP binding;GO:0043021 ribonucleoprotein complex binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:1990416 cellular response to brain-derived neurotrophic factor stimulus;GO:0072715 cellular response to selenite ion;GO:1904570 negative regulation of selenocysteine incorporation;GO:0006406 mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 38.8, "record_id": "P38919-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VX2-1", "uniprot_id": [ { "id": "COMD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VX2", "type": "external" } ], "mass": 22540.0, "length": 200, "protein_name": "COMM domain-containing protein 7", "gene_name": "COMMD7", "organism": "Human", "refseq_name": "COMM domain-containing protein 7 isoform 2", "refseq_ac": [ { "id": "NP_001092809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092809", "type": "external" } ], "gene_names_uniprotkb": "COMMD7; C20orf92", "gene_names_refseq": "C20orf92; COMMD7; dJ1085F17.3", "protein_names_uniprotkb": "COMM domain-containing protein 7", "protein_names_refseq": "COMM domain-containing protein 7 isoform 2; COMM domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:149951); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 146, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;20979692;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23049798;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23637203;23912815;23986495;24076655;24366543;24366607;24636985;24793695;24793696;25314029;25349211;25355947;25531226;25576301;25645385;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27565346;27846572;27862975;27920218;28115426;28832583;28904123;29153394;29242379;29493099;29557506;30410026;30610225;30833945;31154438;31530632;31844290;31848261;32005965;32157095;32284348;32350084;32357974;32387766;32938616;32983136;33298915;33444648;33592498;33717175;33968037;34561969;35051231;35580925;36284347;37057209;37172566;38459129;9790970;9887101;9891082", "class_list": "", "function": "BC047440 can promote the growth and invasion of hepatocellular carcinoma., [RefSeq, PubMed]; COMMD7 contributes to hepatocellular carcinoma progression by reducing cell apoptosis and overcoming cell cycle arrest. Erratum:[PLoS One. 2019 Mar 18;14(3):e0214259. doi: 10.1371/journal.pone.0214259. PMID: 30883605], [RefSeq, PubMed]; Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Associates with the NF-kappa-B complex and suppresses its transcriptional activity (PubMed:15799966)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; ZNF460-regulated COMMD7 Promotes Acute Myeloid Leukemia Proliferation Via the NF-kappaB Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2BHJ2;B3KTZ2;Q5JYB0;Q96SI7;Q9BW53", "ec_number_list": [], "go_molecular_function": "GO:0051059 NF-kappaB binding", "go_cellular_component": "GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0033209 tumor necrosis factor-mediated signaling pathway;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q86VX2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P000-1", "uniprot_id": [ { "id": "COMD9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P000", "type": "external" } ], "mass": 21819.0, "length": 198, "protein_name": "COMM domain-containing protein 9", "gene_name": "COMMD9", "organism": "Human", "refseq_name": "COMM domain-containing protein 9 isoform 4", "refseq_ac": [ { "id": "NP_001294866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294866", "type": "external" } ], "gene_names_uniprotkb": "COMMD9; HSPC166", "gene_names_refseq": "C11orf55; COMMD9; HSPC166; LINC00610", "protein_names_uniprotkb": "COMM domain-containing protein 9", "protein_names_refseq": "COMM domain-containing protein 9 isoform 4; COMM domain-containing protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:29099); (R-HSA-6798695); (R-HSA-8951664)", "pathway_count": 3, "publication_count": 151, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11230166;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;20068231;21447816;21463634;21778237;21863050;21940857;22306028;22424782;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23637203;23650620;23912815;23986495;24076655;24366543;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25505266;25531226;25576301;26154972;26344709;26460955;26632597;26906416;26992070;27030794;27222660;27397612;27565346;27846572;28115426;28892079;29153394;29493099;29557506;30429286;30610225;31154438;31530632;31844290;31848261;32005965;32157095;32284348;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33444648;33592498;33936100;33968037;34019948;34171305;34405274;35051231;35154160;35580925;37172566;38459129;8692836;9790970;9887101;9891082", "class_list": "", "function": "Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966). Modulates Na(+) transport in epithelial cells by regulation of apical cell surface expression of amiloride-sensitive sodium channel (ENaC) subunits (PubMed:23637203)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PAN2;Q96FI2;Q9H0R0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005654 nucleoplasm;GO:0034774 secretory granule lumen;GO:1904813 ficolin-1-rich granule lumen;GO:0010008 endosome membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006814 sodium ion transport;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 15.4, "record_id": "Q9P000-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13158-1", "uniprot_id": [ { "id": "FADD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13158", "type": "external" } ], "mass": 23279.0, "length": 208, "protein_name": "FAS-associated death domain protein", "gene_name": "FADD", "organism": "Human", "refseq_name": "FAS-associated death domain protein", "refseq_ac": [ { "id": "NP_003815", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003815", "type": "external" } ], "gene_names_uniprotkb": "FADD; GIG3; MORT1", "gene_names_refseq": "FADD; GIG3; IMD90; MORT1", "protein_names_uniprotkb": "FAS-associated death domain protein; FAS-associating death domain-containing protein; Growth-inhibiting gene 3 protein; Mediator of receptor induced toxicity", "protein_names_refseq": "FAS-associated death domain protein; Fas (TNFRSF6)-associated via death domain; Fas-associating death domain-containing protein; Fas-associating protein with death domain; growth-inhibiting gene 3 protein; mediator of receptor-induced toxicity", "tax_id": 9606, "disease": "brain glioma (Disease Ontology:DOID:0060108); immunodeficiency 90 (Disease Ontology:DOID:0061060); retinitis pigmentosa 4 (Disease Ontology:DOID:0110372); congenital stationary night blindness autosomal dominant 1 (Disease Ontology:DOID:0110862); retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); fundus albipunctatus (Disease Ontology:DOID:11105); prostatic hypertrophy (Disease Ontology:DOID:11132); leukemia (Disease Ontology:DOID:1240); abdominal obesity-metabolic syndrome 1 (Disease Ontology:DOID:14221); depressive disorder (Disease Ontology:DOID:1596); transient cerebral ischemia (Disease Ontology:DOID:224); morphine dependence (Disease Ontology:DOID:2560); middle cerebral artery infarction (Disease Ontology:DOID:3525); night blindness (Disease Ontology:DOID:8499); acute myeloid leukemia (Disease Ontology:DOID:9119); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8772); (R-HSA-140534); (R-HSA-2562578); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-5675482); (R-HSA-69416); (R-HSA-75157); (R-HSA-75158); (R-HSA-9013957); (R-HSA-933543); (R-HSA-9693928)", "pathway_count": 15, "publication_count": 234, "publication_id_list": "10.1101/2023.09.13.557529;10442631;10521396;10640736;10825539;10837247;10894160;10964568;11002417;11034606;11098060;11181075;11259186;11384965;11427719;11463813;11577081;11717445;12107169;12167698;12181749;12198154;12215447;12620239;12620240;12702765;12709429;12721308;12752666;12884866;12887920;12912912;14716293;14739303;15001534;15024054;15258597;15289496;15601308;15760909;15814722;15870263;15906275;16061179;16127453;16282325;16585540;16618810;16682944;16762833;16829951;16829952;17314102;17327223;17644308;17702576;18178551;18190721;18256533;18485876;18570872;18632871;18761323;18838202;18846110;19118384;19278658;19289468;19303913;19413330;19416807;19524512;19524513;19664995;19683492;19690332;19910467;19955841;20068231;20166139;20185725;20218968;20219915;20230923;20304918;20308068;20385093;20696707;20852190;20890306;20935634;20951169;21109225;21235526;21315423;21406692;21408173;21737329;21737330;21978935;22123964;22179575;22265413;22297296;22421439;22421964;22435550;22817896;22848449;23186163;23285096;23301498;23313255;23606538;23746843;23955153;24025841;24059293;24098568;24204270;24246475;24316671;24323043;24548998;24703947;24726323;24726327;24813885;25502872;25565632;25576301;25790448;25852146;25880248;25996294;26253696;26344099;26775703;26866270;26900751;26933192;26992070;26997266;27307491;27458237;27545878;27552911;27591049;27920218;28063628;28069818;28218747;28506461;28661484;28832583;28834231;28860194;28904123;28920952;28920954;29242379;29437277;29493099;29557506;29632046;29642005;29681455;29883609;29883610;29930286;30146158;30315122;30361438;30420664;30429286;30770249;30779550;30833945;30979585;30988283;31031142;31138766;31358971;31366726;31511692;31844290;31848261;32157095;32265295;32269263;32320653;32387766;32561730;32938616;32983136;33298915;33469115;33936100;33968037;34019948;34087483;34162724;34363755;34561969;34876703;34999730;35051231;35580925;35941131;36010968;36215666;36241641;36284347;37146968;37793571;37979702;38710704;38752438;7530336;7531702;7536190;7538907;7667287;8521815;8681376;8777713;9049422;9065443;9082980;9184224;9311998;9582077;9721089;9880531", "class_list": "", "function": "Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing., [RefSeq, PubMed]; Apoptotic adapter molecule that recruits caspases CASP8 or CASP10 to the activated FAS/CD95 or TNFRSF1A/TNFR-1 receptors (PubMed:16762833, PubMed:19118384, PubMed:20935634, PubMed:23955153, PubMed:24025841, PubMed:7538907, PubMed:9184224). The resulting aggregate called the death-inducing signaling complex (DISC) performs CASP8 proteolytic activation (PubMed:16762833, PubMed:19118384, PubMed:20935634, PubMed:7538907, PubMed:9184224). Active CASP8 initiates the subsequent cascade of caspases mediating apoptosis (PubMed:16762833). Involved in interferon-mediated antiviral immune response, playing a role in the positive regulation of interferon signaling (PubMed:21109225, PubMed:24204270)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome., [RefSeq, PubMed]; Deciphering DED assembly mechanisms in FADD-procaspase-8-cFLIP complexes regulating apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review. Review article, [RefSeq, PubMed]; The adapter protein FADD provides an alternate pathway for entry into the cell cycle by regulating APC/C-Cdh1 E3 ubiquitin ligase activity., [RefSeq, PubMed]; The protein encoded by this gene is an adaptor molecule that interacts with various cell surface receptors and mediates cell apoptotic signals. Through its C-terminal death domain, this protein can be recruited by TNFRSF6/Fas-receptor, tumor necrosis factor receptor, TNFRSF25, and TNFSF10/TRAIL-receptor, and thus it participates in the death signaling initiated by these receptors. Interaction of this protein with the receptors unmasks the N-terminal effector domain of this protein, which allows it to recruit caspase-8, and thereby activate the cysteine protease cascade. Knockout studies in mice also suggest the importance of this protein in early T cell development. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 17, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 18, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q14866;Q6IBR4", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0044877 protein-containing complex binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0044297 cell body", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0045087 innate immune response;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0051607 defense response to virus;GO:0001822 kidney development", "synthesized_glycan_count": 0, "hit_score": 23.9, "record_id": "Q13158-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969H0-1", "uniprot_id": [ { "id": "FBXW7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969H0", "type": "external" } ], "mass": 79663.0, "length": 707, "protein_name": "F-box/WD repeat-containing protein 7", "gene_name": "FBXW7", "organism": "Human", "refseq_name": "F-box/WD repeat-containing protein 7 isoform 3", "refseq_ac": [ { "id": "NP_001013433", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013433", "type": "external" } ], "gene_names_uniprotkb": "FBXW7; FBW7; FBX30; SEL10", "gene_names_refseq": "AGO; CDC4; DEDHIL; FBW6; FBW7; FBX30; FBXW6; FBXW7; SEL-10; SEL10; hAgo; hCdc4", "protein_names_uniprotkb": "F-box/WD repeat-containing protein 7; Archipelago homolog; F-box and WD-40 domain-containing protein 7; F-box protein FBX30; SEL-10; hAgo; hCdc4", "protein_names_refseq": "F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase; F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila); F-box protein FBW7; F-box protein FBX30; F-box protein SEL-10; F-box/WD repeat-containing protein 7 isoform 3; archipelago; homolog of C elegans sel-10", "tax_id": 9606, "disease": "developmental delay, hypotonia, and impaired language (Disease Ontology:DOID:0070420)", "pathway": " (hsa:55294); (R-HSA-390471); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 4, "publication_count": 211, "publication_id_list": "10531037;10535940;10597293;10811609;10878807;10973499;11062501;11069780;11237011;11259415;11292861;11292862;11350924;11454738;11565033;11565034;11585840;11585921;11733065;11961546;12101228;12186903;12354302;12502735;12504025;12504026;12526791;12538644;12609982;12646216;12682069;12759363;12816948;14690597;14734113;14739463;14757770;15103331;15224091;15224092;15282312;15361859;15367669;15537541;15571818;15572695;15574592;15601839;15611062;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16595681;16647857;16707496;16790436;16849449;16943200;16954532;16959974;17081101;17081983;17132228;17183367;17220875;17224074;17332328;17434132;17497243;17525332;17558397;17785452;17873522;18093314;18206966;18662542;18775313;18775504;18776931;18805092;18826954;18851830;18926707;19011634;19028597;19250909;19321346;19352404;19452197;19489725;19617556;19748355;19851334;19874575;19940261;21098288;21147854;21447816;21463634;21778237;21863050;21940857;21995946;22306028;22399798;22466964;22537386;22608923;2261476;22748924;22959436;23082202;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23747015;23912815;23986495;24000165;24076655;24344117;24366543;24636985;24714562;24756126;24793695;24793696;25314029;25342745;25349211;25355947;25467444;25531226;25576301;25645385;25753158;25775507;25897075;26344709;26375851;26460955;26632597;26728094;26774286;26906416;26976582;27030794;27222660;27238018;27247421;27458189;27565346;27837025;27846572;27920218;28007894;28115426;28228285;28727686;28832583;28850619;28904123;29149593;29153394;29242379;29508533;29557506;29632046;29632711;30315122;30379171;30610225;30722038;31371703;31844290;32005965;32157095;32284348;32457290;32488085;32502341;32938616;33444648;33936100;33968037;34087483;34102342;34741373;35051231;35395208;36010968;37217939;39260674;39329268;39402299;9380723;9668046;9790970;9819444;9887101;9891082", "class_list": "", "function": "FAM83D promotes the progression of 4NQO-induced esophageal carcinoma via inhibiting FBWX7., [RefSeq, PubMed]; MiR-182-5p promotes the proliferation and invasion of hilar cholangiocarcinoma cells by inhibiting FBXW7. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-25-3p serves as an oncogenic in colorectal cancer cells by regulating the ubiquitin ligase FBXW7 function., [RefSeq, PubMed]; Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:17434132, PubMed:22748924, PubMed:26976582, PubMed:28727686, PubMed:34741373, PubMed:35395208). Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter brings them to the SCF complex for ubiquitination (PubMed:17434132, PubMed:22748924, PubMed:26774286, PubMed:26976582, PubMed:28727686, PubMed:34741373). Identified substrates include cyclin-E (CCNE1 or CCNE2), DISC1, JUN, MYC, NOTCH1 released notch intracellular domain (NICD), NFE2L1, NOTCH2, MCL1, MLST8, RICTOR, and probably PSEN1 (PubMed:11565034, PubMed:11585921, PubMed:12354302, PubMed:14739463, PubMed:15103331, PubMed:17558397, PubMed:17873522, PubMed:22608923, PubMed:22748924, PubMed:25775507, PubMed:25897075, PubMed:26976582, PubMed:28007894, PubMed:28727686, PubMed:29149593, PubMed:34102342). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463). Involved in bone homeostasis and negative regulation of osteoclast differentiation (PubMed:29149593). Regulates the amplitude of the cyclic expression of hepatic core clock genes and genes involved in lipid and glucose metabolism via ubiquitination and proteasomal degradation of their transcriptional repressor NR1D1; CDK1-dependent phosphorylation of NR1D1 is necessary for SCF(FBXW7)-mediated ubiquitination (PubMed:27238018). Also able to promote 'Lys-63'-linked ubiquitination in response to DNA damage (PubMed:26774286). The SCF(FBXW7) complex facilitates double-strand break repair following phosphorylation by ATM: phosphorylation promotes localization to sites of double-strand breaks and 'Lys-63'-linked ubiquitination of phosphorylated XRCC4, enhancing DNA non-homologous end joining (PubMed:26774286)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene was previously referred to as FBX30, and belongs to the Fbws class; in addition to an F-box, this protein contains 7 tandem WD40 repeats. This protein binds directly to cyclin E and probably targets cyclin E for ubiquitin-mediated degradation. Mutations in this gene are detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 129, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7ZLP9;Q68DR0;Q96A16;Q96LE0;Q96RI2;Q9NUX6", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0031625 ubiquitin protein ligase binding;GO:0043130 ubiquitin binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:1990452 Parkin-FBXW7-Cul1 ubiquitin ligase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0010992 ubiquitin recycling;GO:0006281 DNA repair;GO:0010629 negative regulation of gene expression;GO:0055088 lipid homeostasis;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "Q969H0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01831-1", "uniprot_id": [ { "id": "XPC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01831", "type": "external" } ], "mass": 105953.0, "length": 940, "protein_name": "DNA repair protein complementing XP-C cells", "gene_name": "XPC", "organism": "Human", "refseq_name": "DNA repair protein complementing XP-C cells isoform 1", "refseq_ac": [ { "id": "NP_004619", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004619", "type": "external" } ], "gene_names_uniprotkb": "XPC; XPCC", "gene_names_refseq": "RAD4; XP3; XPCC; XPC; p125", "protein_names_uniprotkb": "DNA repair protein complementing XP-C cells; Xeroderma pigmentosum group C-complementing protein; p125", "protein_names_refseq": "DNA repair protein complementing XP-C cells isoform 1; DNA repair protein complementing XP-C cells; mutant xeroderma pigmentosum group C; xeroderma pigmentosum, complementation group C", "tax_id": 9606, "disease": "xeroderma pigmentosum (Disease Ontology:DOID:0050427); xeroderma pigmentosum group C (Disease Ontology:DOID:0110844); lung cancer (Disease Ontology:DOID:1324); pancreatic cancer (Disease Ontology:DOID:1793); serous cystadenocarcinoma (Disease Ontology:DOID:3114)", "pathway": " (hsa:7508); (R-HSA-3108214); (R-HSA-5696394); (R-HSA-5696395)", "pathway_count": 4, "publication_count": 216, "publication_id_list": "10391953;10447254;10526214;10574707;10734143;10766188;10873465;11007478;11141066;11237011;11278856;11279143;11511374;11792325;11889051;12080057;12177305;12505994;12509233;12509299;12547395;12732143;12815074;12944386;14517266;14742321;15175327;15220921;1522891;15302935;15355988;15590680;15608651;15811629;15823533;15829507;15882621;15940266;15959518;15964821;16030353;16223728;16473935;16478998;16491090;16533048;16608850;16626738;16627479;16678110;16688858;16810316;16965652;17000769;17052994;17081983;17355181;17363013;17466625;17466626;17487921;17525332;17682058;17693435;17882165;17897675;17948053;18053706;18220336;18285822;18318008;18452278;18614043;18625722;18669648;18682493;18691969;18708356;19056823;19109893;19287951;19596686;19609301;19622798;19651622;19661379;19706679;19713942;19779455;19940136;19941824;19956565;20016594;20016603;20028083;20068231;20166139;20190268;20368362;20649465;20705237;20798892;20855601;20876134;21098080;21104992;21113018;21135142;21147198;21284855;21318603;21388382;21406692;21550342;21671483;22081108;22118460;22508508;22519360;22635276;22661230;22751501;23038248;23045548;23186163;23319653;23352696;23400628;23750026;23751493;23871147;23918308;24027577;24264314;24275569;24338715;24375193;24385304;24715725;24722188;24782567;25114211;25154395;25218447;25355595;25505266;25538220;25755297;25772364;26001739;26042670;26151477;26154972;26992070;27600516;27920218;28218747;28228285;28514659;28832583;28834231;29242379;29437277;29493099;29508533;29557506;29632046;29660033;29769354;29786170;29973595;30315122;30379171;30429286;31154438;31217245;31527837;31530632;31844290;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33214551;33298915;33717175;33912179;33968037;34171305;35051231;35494241;35580925;36284347;37510255;38285784;38479279;40596516;7559382;7700386;8168482;8298653;8692695;8692841;9130708;9372924;9412458;9452416;9699634;9716411;9734359;9756909;9771713;9885291", "class_list": "", "function": "A Significant Increasing Risk Association between Cigarette Smoking and XPA and XPC Genes Polymorphisms. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck Cancer Patients: A Hospital Based Study from Maharashtra. Publication Status: Online-Only, [RefSeq, PubMed]; In absence of DNA repair, the XPC complex also acts as a transcription coactivator: XPC interacts with the DNA-binding transcription factor E2F1 at a subset of promoters to recruit KAT2A and histone acetyltransferase complexes (HAT) (PubMed:29973595, PubMed:31527837). KAT2A recruitment specifically promotes acetylation of histone variant H2A.Z.1/H2A.Z, but not H2A.Z.2/H2A.V, thereby promoting expression of target genes (PubMed:31527837)., [UniProtKB, PubMed, PubMed]; Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex (PubMed:10734143, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19609301, PubMed:19941824, PubMed:20028083, PubMed:20649465, PubMed:20798892, PubMed:9734359). Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides (PubMed:10734143, PubMed:19609301, PubMed:20649465). This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity (PubMed:10734143, PubMed:19609301, PubMed:20649465). The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex (PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892, PubMed:9734359). The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs (PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892, PubMed:9734359). The orientation of XPC complex binding appears to be crucial for inducing a productive NER (PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892, PubMed:9734359). XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5'-to-3' direction by the NER machinery (PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892, PubMed:9734359). Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair (PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19941824, PubMed:20028083, PubMed:20798892, PubMed:9734359). In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts (PubMed:20028083). XPC:RAD23B contacts DNA both 5' and 3' of a cisplatin lesion with a preference for the 5' side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1 (PubMed:20028083)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Relationship between ERCC1 and XPC polymorphisms and the susceptibility to head and neck carcinoma: A systematic review, meta-analysis, and trial sequential analysis., [RefSeq, PubMed]; The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DIP3;E9PB96;E9PH69;Q53GT7;Q96AX0", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003684 damaged DNA binding;GO:0044877 protein-containing complex binding;GO:0003697 single-stranded DNA binding;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0000109 nucleotide-excision repair complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006281 DNA repair;GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0006298 mismatch repair;GO:0010996 response to auditory stimulus", "synthesized_glycan_count": 0, "hit_score": 22.0, "record_id": "Q01831-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P158-1", "uniprot_id": [ { "id": "DHX57_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P158", "type": "external" } ], "mass": 155604.0, "length": 1386, "protein_name": "Putative ATP-dependent RNA helicase DHX57", "gene_name": "DHX57", "organism": "Human", "refseq_name": "putative ATP-dependent RNA helicase DHX57 isoform 1", "refseq_ac": [ { "id": "NP_945314", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945314", "type": "external" } ], "gene_names_uniprotkb": "DHX57", "gene_names_refseq": "DDX57; DHX57", "protein_names_uniprotkb": "Putative ATP-dependent RNA helicase DHX57; 3.6.4.13; DEAH box protein 57", "protein_names_refseq": "DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57; DEAH box protein 57; DEAH-box RNA/DNA helicase AAM73547; DEAH-box helicase 57; putative ATP-dependent RNA helicase DHX57 isoform 1; putative ATP-dependent RNA helicase DHX57", "tax_id": 9606, "disease": "", "pathway": " (hsa:90957)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "11237011;17081983;18452278;18669648;19007248;19413330;19651622;19691289;20068231;21406692;22424782;23186163;23481700;24397554;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26768311;26811146;26992070;27600516;27846572;28510447;28904123;29493099;29557506;29930882;31217245;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34561969;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38253038", "class_list": "", "function": "Probable ATP-binding RNA helicase., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2RRC7;Q53SI4;Q6P9G1;Q7Z6H3;Q8NG17;Q96M33", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity;GO:0070063 RNA polymerase binding", "go_cellular_component": "", "go_biological_process": "GO:0045727 positive regulation of translation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q6P158-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GY0-1", "uniprot_id": [ { "id": "ZC21A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GY0", "type": "external" } ], "mass": 35092.0, "length": 325, "protein_name": "Zinc finger C2HC domain-containing protein 1A", "gene_name": "ZC2HC1A", "organism": "Human", "refseq_name": "zinc finger C2HC domain-containing protein 1A isoform 1", "refseq_ac": [ { "id": "NP_057094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057094", "type": "external" } ], "gene_names_uniprotkb": "ZC2HC1A; C8orf70; CGI-62; FAM164A", "gene_names_refseq": "C8orf70; CGI-62; FAM164A; ZC2HC1A", "protein_names_uniprotkb": "Zinc finger C2HC domain-containing protein 1A", "protein_names_refseq": "family with sequence similarity 164, member A; protein FAM164A; zinc finger C2HC domain-containing protein 1A isoform 1; zinc finger C2HC domain-containing protein 1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:51101)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;16964243;18669648;19413330;20068231;23186163;25505266;25576301;25645385;26154972;27846572;28510447;28832583;29242379;29557506;29632711;29786170;31373491;31844290;32157095;33592498;33633747;33717175;33968037;34185709;35051231;35580925;36010968;37938771;38665916", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9Y372", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q96GY0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75616-1", "uniprot_id": [ { "id": "ERAL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75616", "type": "external" } ], "mass": 48350.0, "length": 437, "protein_name": "GTPase Era, mitochondrial", "gene_name": "ERAL1", "organism": "Human", "refseq_name": "GTPase Era, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001304914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304914", "type": "external" } ], "gene_names_uniprotkb": "ERAL1; HERA", "gene_names_refseq": "CEGA; ERA-W; ERAL1A; ERAL1B; ERAL1; ERA; H-ERA; HERA-A; HERA-B; PRLTS6", "protein_names_uniprotkb": "GTPase Era, mitochondrial; CEGA; Conserved ERA-like GTPase; ERA-W; ERA-like protein 1; H-ERA; hERA", "protein_names_refseq": "ERA-like protein 1; Era G-protein-like 1; GTP-binding protein era homolog; GTPase Era, mitochondrial isoform 2; GTPase Era, mitochondrial; GTPase, human homolog of E. coli essential cell cycle protein Era; conserved ERA-like GTPase; era (E. coli G-protein homolog)-like 1", "tax_id": 9606, "disease": "Perrault syndrome 6 (Disease Ontology:DOID:0080256)", "pathway": " (hsa:26284); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 59, "publication_id_list": "10945472;11237011;11733036;14759258;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;20430825;20604745;21907147;22172991;2250005;23186163;23481700;24715725;25233460;25505266;25576301;25892735;26154972;27029019;28218747;28449065;28510447;28892042;28904123;29508533;29557506;29632046;29769354;30315122;31217245;31844290;31937595;31998317;32157095;32161166;32387766;32502341;32938616;33141586;33243891;33298915;33472079;33878294;33936100;34211107;34357683;35051231;35580925;36302763;36596788;37141370;38665916", "class_list": "", "function": "Data show that loss of ERAL1 leads to rapid decay of nascent 12S mt-rRNA, consistent with a role as a mitochondrial RNA chaperone., [RefSeq, PubMed]; Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The mitochondrial protein ERAL1 suppresses RNA virus infection by facilitating RIG-I-like receptor signaling., [RefSeq, PubMed]; The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KN21;C9JEC6;O75617;Q8WUY4;Q96LE2;Q96TC0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005525 GTP binding;GO:0043024 ribosomal small subunit binding;GO:0019843 rRNA binding;GO:0140691 RNA folding chaperone", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0000028 ribosomal small subunit assembly;GO:0180026 mitochondrial small ribosomal subunit assembly", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O75616-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P0Q8-1", "uniprot_id": [ { "id": "MAST2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P0Q8", "type": "external" } ], "mass": 196436.0, "length": 1798, "protein_name": "Microtubule-associated serine/threonine-protein kinase 2", "gene_name": "MAST2", "organism": "Human", "refseq_name": "microtubule-associated serine/threonine-protein kinase 2 isoform 2", "refseq_ac": [ { "id": "NP_001306174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306174", "type": "external" } ], "gene_names_uniprotkb": "MAST2; KIAA0807; MAST205", "gene_names_refseq": "MAST205; MAST2; MTSSK", "protein_names_uniprotkb": "Microtubule-associated serine/threonine-protein kinase 2; 2.7.11.1", "protein_names_refseq": "microtubule associated testis specific serine/threonine protein kinase; microtubule-associated serine/threonine-protein kinase 2 isoform 2; microtubule-associated serine/threonine-protein kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23139)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12117771;17081983;17344846;18212344;18669648;18767875;19369195;19651622;19664994;19690332;20068231;21406692;22028470;23186163;24129315;24275569;24714562;24715725;25576301;25892735;26154972;26728094;26811146;26929215;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632711;29769354;30410026;30779550;31217245;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32897882;32938616;33141586;33298915;33592498;33691108;33717175;33968037;34087483;34185709;34561969;35051231;35580925;36010968;36241641;36284347;8902215", "class_list": "", "function": "Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O94899;Q5VT07;Q5VT08;Q7LGC4;Q8NDG1;Q96B94;Q9BYE8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0008017 microtubule binding;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0015630 microtubule cytoskeleton;GO:0005737 cytoplasm", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0007010 cytoskeleton organization;GO:0032655 regulation of interleukin-12 production;GO:0048515 spermatid differentiation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q6P0Q8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q66GS9-1", "uniprot_id": [ { "id": "CP135_HUMAN", "url": "https://www.uniprot.org/uniprot/Q66GS9", "type": "external" } ], "mass": 133490.0, "length": 1140, "protein_name": "Centrosomal protein of 135 kDa", "gene_name": "CEP135", "organism": "Human", "refseq_name": "centrosomal protein of 135 kDa", "refseq_ac": [ { "id": "NP_079285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079285", "type": "external" } ], "gene_names_uniprotkb": "CEP135; CEP4; KIAA0635", "gene_names_refseq": "CEP135; CEP4; KIAA0635; MCPH8", "protein_names_uniprotkb": "Centrosomal protein of 135 kDa; Centrosomal protein 4; Cep135", "protein_names_refseq": "centrosomal protein 135kDa; centrosomal protein 4; centrosomal protein of 135 kDa; centrosome protein cep135", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 8 (Disease Ontology:DOID:0070282)", "pathway": " (hsa:9662); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 120, "publication_id_list": "11076968;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17081983;17574030;17646400;17681131;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;18851962;19004860;19081074;19651622;19664994;19691289;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22521416;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24982133;25047611;25313408;25532896;25576301;25645385;26675238;26992070;27185865;27477386;27846572;27920218;28649982;28832583;28834231;28904123;29242379;29393594;29632046;30135143;30379171;30429286;31154438;31217245;31844290;32060285;32157095;32357974;32387766;32488085;32938616;32983136;33392160;33402344;33717175;33936100;33968037;33981976;34171305;34185709;34357683;34509645;34932366;35406752;35580925;36010968;36284347;37217939;38062802;7769006;7790358;8838651", "class_list": "", "function": "Centrosomal Protein CEP135 Regulates the Migration and Angiogenesis of Endothelial Cells in a Microtubule-Dependent Manner., [RefSeq, PubMed]; Centrosomal microtubule-binding protein involved in centriole biogenesis (PubMed:27477386). Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Mitotic Maturation Compensates for Premature Centrosome Splitting and PCM Loss in Human cep135 Knockout Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RMY0;O75130;Q58F25;Q9H8H7", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole", "go_biological_process": "GO:1904951 positive regulation of establishment of protein localization;GO:1902857 positive regulation of non-motile cilium assembly;GO:0010457 centriole-centriole cohesion;GO:0007099 centriole replication", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q66GS9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13351-1", "uniprot_id": [ { "id": "KLF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13351", "type": "external" } ], "mass": 38221.0, "length": 362, "protein_name": "Krueppel-like factor 1", "gene_name": "KLF1", "organism": "Human", "refseq_name": "Krueppel-like factor 1", "refseq_ac": [ { "id": "NP_006554", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006554", "type": "external" } ], "gene_names_uniprotkb": "KLF1; EKLF", "gene_names_refseq": "CDAN4A; CDAN4B; EKLF/KLF1; EKLF; KLF1", "protein_names_uniprotkb": "Krueppel-like factor 1; EKLF; Erythroid krueppel-like transcription factor", "protein_names_refseq": "Krueppel-like factor 1; Kruppel like factor 1; erythroid Kruppel-like factor; erythroid krueppel-like transcription factor; erythroid-specific transcription factor EKLF", "tax_id": 9606, "disease": "congenital dyserythropoietic anemia type IVb (Disease Ontology:DOID:0051002); chromosome 5q deletion syndrome (Disease Ontology:DOID:0090016); congenital dyserythropoietic anemia type IVa (Disease Ontology:DOID:0111400); beta thalassemia (Disease Ontology:DOID:12241); hereditary spherocytosis (Disease Ontology:DOID:12971); Diamond-Blackfan anemia (Disease Ontology:DOID:1339); acute myeloid leukemia (Disease Ontology:DOID:9119); obsolete blood group--lutheran inhibitor (MONDO:MONDO:0044221)", "pathway": " (hsa:10661)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "18487511;20676099;21055716;21670263;23125034;23522491;24443441;24829204;25585695;25690802;28361594;29200155;29300242;31126231;31375868;31818881;32157095;32488085;32983136;34171305;35051231;35580925;37307706;38429690;39017846;39376007;39445566;8924208;9119377;9707565;9722526", "class_list": "", "function": "Association study of common KLF1 variants with Hb F and Hb A2 levels in beta-thalassaemia carriers of Portuguese ancestry., [RefSeq, PubMed]; Erythroid Kruppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation. Review article, [RefSeq, PubMed]; KLF1 Activates RAC3 to Mediate Fatty Acid Synthesis and Enhance Cisplatin Resistance in Bladder Cancer Cells., [RefSeq, PubMed]; Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]., [RefSeq]; Transcription regulator of erythrocyte development that probably serves as a general switch factor during erythropoiesis. Is a dual regulator of fetal-to-adult globin switching. Binds to the CACCC box in the beta-globin gene promoter and acts as a preferential activator of this gene. Furthermore, it binds to the BCL11A promoter and activates expression of BCL11A, which in turn represses the HBG1 and HBG2 genes. This dual activity ensures that, in most adults, fetal hemoglobin levels are low. Able to activate CD44 and AQP1 promoters (PubMed:21055716). When sumoylated, acts as a transcriptional repressor by promoting interaction with CDH2/MI2beta and also represses megakaryocytic differentiation., [UniProtKB, UniProtKB, PubMed, PubMed]; VPS37C facilitates erythroid differentiation by promoting EKLF stability., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6PIJ5;Q92899", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:1990859 cellular response to endothelin;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0030218 erythrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q13351-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYR3-1", "uniprot_id": [ { "id": "KRA44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYR3", "type": "external" } ], "mass": 18023.0, "length": 166, "protein_name": "Keratin-associated protein 4-4", "gene_name": "KRTAP4-4", "organism": "Human", "refseq_name": "keratin-associated protein 4-4", "refseq_ac": [ { "id": "NP_115913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115913", "type": "external" } ], "gene_names_uniprotkb": "KRTAP4-4; KAP4.13; KAP4.4; KRTAP4-13; KRTAP4.13; KRTAP4.4", "gene_names_refseq": "KAP4.13; KAP4.4; KRTAP4-13; KRTAP4-4; KRTAP4.13; KRTAP4.4", "protein_names_uniprotkb": "Keratin-associated protein 4-4; Keratin-associated protein 4-13; Keratin-associated protein 4.13; Keratin-associated protein 4.4; Ultrahigh sulfur keratin-associated protein 4.13; Ultrahigh sulfur keratin-associated protein 4.4", "protein_names_refseq": "keratin associated protein 4.4; keratin-associated protein 4-13; keratin-associated protein 4-4; keratin-associated protein 4.13; ultrahigh sulfur keratin-associated protein 4.13; ultrahigh sulfur keratin-associated protein 4.4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84616); (R-HSA-6805567)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "11279113;15373777;15955084;16382671;1691188;1694855;1714783;17521629;23481192;2414304;25208914;9468612", "class_list": "", "function": "In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins., [UniProtKB]; This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BYU7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "GO:0042633 hair cycle", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BYR3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10451-1", "uniprot_id": [ { "id": "OSTP_HUMAN", "url": "https://www.uniprot.org/uniprot/P10451", "type": "external" } ], "mass": 35423.0, "length": 314, "protein_name": "Osteopontin", "gene_name": "SPP1", "organism": "Human", "refseq_name": "osteopontin isoform OPN-b precursor", "refseq_ac": [ { "id": "NP_000573", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000573", "type": "external" } ], "gene_names_uniprotkb": "SPP1; BNSP; OPN; PSEC0156", "gene_names_refseq": "BNSP; BSPI; ETA-1; OPN; SPP1", "protein_names_uniprotkb": "Osteopontin; Bone sialoprotein 1; Nephropontin; SPP-1; Secreted phosphoprotein 1; Urinary stone protein; Uropontin", "protein_names_refseq": "SPP1/CALPHA1 fusion; lnc-PKD2-2-3; nephropontin; osteopontin isoform OPN-b precursor; osteopontin/immunoglobulin alpha 1 heavy chain constant region fusion protein; secreted phosphoprotein 1 (osteopontin, bone sialoprotein I, early T-lymphocyte activation 1); urinary stone protein; uropontin", "tax_id": 9606, "disease": "glomerulosclerosis (Disease Ontology:DOID:0050851); aortic dissection (Disease Ontology:DOID:0080685); progressive osseous heteroplasia (Disease Ontology:DOID:0111535); prostate carcinoma (Disease Ontology:DOID:10286); kidney failure (Disease Ontology:DOID:1074); urinary bladder cancer (Disease Ontology:DOID:11054); biliary atresia (Disease Ontology:DOID:13608); disease of cellular proliferation (Disease Ontology:DOID:14566); renovascular hypertension (Disease Ontology:DOID:1591); pancreatic cancer (Disease Ontology:DOID:1793); calcinosis (Disease Ontology:DOID:182); melanoma (Disease Ontology:DOID:1909); hepatitis (Disease Ontology:DOID:2237); multiple sclerosis (Disease Ontology:DOID:2377); glomerulonephritis (Disease Ontology:DOID:2921); high grade glioma (Disease Ontology:DOID:3070); coronary artery disease (Disease Ontology:DOID:3393); aortic aneurysm (Disease Ontology:DOID:3627); lung non-small cell carcinoma (Disease Ontology:DOID:3908); tuberculosis (Disease Ontology:DOID:399); coronary restenosis (Disease Ontology:DOID:4247); radiculopathy (Disease Ontology:DOID:4306); myocardial infarction (Disease Ontology:DOID:5844); encephalomyelitis (Disease Ontology:DOID:640); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); myocarditis (Disease Ontology:DOID:820); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:6696); (R-HSA-1474228); (R-HSA-186797); (R-HSA-216083); (R-HSA-381426); (R-HSA-8949275); (R-HSA-8957275); (R-HSA-9856532)", "pathway_count": 8, "publication_count": 270, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026136;10077652;10209034;10218588;10229672;10366422;10386589;10438935;10508235;10512690;10543983;10593924;10605720;10614670;10640428;10673366;10679288;10681634;10706100;10713152;10809722;10810289;10811134;10898936;10912521;10951195;10982388;10986281;10990447;11158056;11158588;11237011;11250653;11264294;11316783;11375993;11518510;11522292;11572855;11606061;11713259;11739083;11751371;11787071;11788658;11872628;11926891;11980922;12241545;12369853;12379487;12466191;12496264;12538485;12585966;12682293;12727852;12807887;12810533;12843408;12855590;12904166;1311092;1370451;1383255;14973287;15006928;15126567;15207811;15234972;15240572;15304325;15308688;15330449;15345499;15383545;15469690;15485880;15525596;15591058;15615512;15642270;15713743;1575754;15767546;15869464;1588291;15899827;15958533;16002701;16051604;16133547;16164020;16239428;16303743;16331269;1639841;16436588;16474853;1649600;16631740;16731529;16754661;16807684;16825321;16933105;1698775;17047378;1707285;17249697;1729712;17312271;17332331;17339034;17354228;17367763;17483156;17604334;17608959;17761350;17943726;17968485;17985932;18434311;18559524;18658137;18694758;18702456;18710925;18775695;19010778;19415658;19502598;19564526;19571574;19657146;19664994;19664995;19714641;1974876;19824718;20033473;20068231;2010551;20142769;20187088;20705068;20813817;21030783;21251937;21297635;21376233;21406692;21441952;21670566;21784848;21864727;22159414;22539938;22582013;22884367;22933705;23035980;23234360;23374253;23479567;23583652;23584533;23695678;23845380;2476804;2479552;25326458;25328409;25597754;25813380;26004068;26091039;26414766;2726470;2736258;27797339;28435517;29093181;29137923;29263244;29408302;29557506;29626154;29964125;30237853;30389923;30459171;31085175;31154438;31844290;31848261;32157095;32350084;32983136;33043033;34185709;34233181;34357683;35051231;35251023;35459695;35580925;36213313;36284347;37453717;39066845;39125809;39238069;39242551;39407132;7075587;7505120;7519608;7523391;7525263;7525578;7525634;7525824;7527330;7538844;7541634;7542249;7543116;7547873;7559467;7588299;7665163;7683646;7685013;7689487;7837791;7945249;8118028;8226919;8344274;8560266;8626565;8781553;8798654;8817670;8838667;8894645;8900172;8910476;8964575;9038151;9065415;9115292;9148753;9251239;9334164;9443892;9461298;9497324;9565552;9709957;9733769;9739761;9786878;9852107;9858236;9922210", "class_list": "", "function": "Acts as a cytokine involved in enhancing production of interferon-gamma and interleukin-12 and reducing production of interleukin-10 and is essential in the pathway that leads to type I immunity., [UniProtKB, UniProtKB]; Dynamics of osteopontin levels and correlation with parasitemia in acute malaria in Uganda and Sweden. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of Osteopontin and Gremlin 1 Proteins in Cardiomyocytes in Ischemic Heart Failure. Publication Status: Online-Only, [RefSeq, PubMed]; Major non-collagenous bone protein that binds tightly to hydroxyapatite. Appears to form an integral part of the mineralized matrix. Probably important to cell-matrix interaction., [UniProtKB, UniProtKB]; Osteopontin deficiency promotes cartilaginous endplate degeneration by enhancing the NF-kappaB signaling to recruit macrophages and activate the NLRP3 inflammasome. Publication Status: Online-Only, [RefSeq, PubMed]; Osteopontin deletion attenuates cyst growth but exacerbates fibrosis in mice with cystic kidney disease., [RefSeq, PubMed]; The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; The resistance to anoikis, mediated by Spp1, and the evasion of immune surveillance facilitate the invasion and metastasis of hepatocellular carcinoma., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 0, "mined_o_glycosites": 2, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 7, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 11, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 11, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 44, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 12, "disease_count": 29, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2RDA1;Q15681;Q15682;Q15683;Q4W597;Q567T5;Q8NBK2;Q96IZ1", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0005509 calcium ion binding;GO:0005125 cytokine activity;GO:0050840 extracellular matrix binding;GO:0036094 small molecule binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0006710 androgen catabolic process;GO:2000866 positive regulation of estradiol secretion;GO:0007155 cell adhesion;GO:0071394 cellular response to testosterone stimulus;GO:0045780 positive regulation of bone resorption", "synthesized_glycan_count": 0, "hit_score": 29.5, "record_id": "P10451-1", "record_type": "protein", "filter_code": "1000000.1000111.100000.000000000001000000.1100010000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02766-1", "uniprot_id": [ { "id": "TTHY_HUMAN", "url": "https://www.uniprot.org/uniprot/P02766", "type": "external" } ], "mass": 15887.0, "length": 147, "protein_name": "Transthyretin", "gene_name": "TTR", "organism": "Human", "refseq_name": "transthyretin precursor", "refseq_ac": [ { "id": "NP_000362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000362", "type": "external" } ], "gene_names_uniprotkb": "TTR; PALB", "gene_names_refseq": "AMYLD1; ATTR; CTS1; CTS; HEL111; HsT2651; PALB; TBPA; TTN; TTR", "protein_names_uniprotkb": "Transthyretin; ATTR; Prealbumin; TBPA", "protein_names_refseq": "epididymis luminal protein 111; prealbumin, amyloidosis type I; thyroxine-binding prealbumin; transthyretin precursor", "tax_id": 9606, "disease": "hereditary systemic amyloidosis 1 (Disease Ontology:DOID:0050638); colorectal adenoma (Disease Ontology:DOID:0050860); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); carpal tunnel syndrome 1 (Disease Ontology:DOID:0070466); dystransthyretinemic hyperthyroxinemia (Disease Ontology:DOID:0080219); stomach cancer (Disease Ontology:DOID:10534); Alzheimer's disease (Disease Ontology:DOID:10652); carpal tunnel syndrome (Disease Ontology:DOID:12169); lung cancer (Disease Ontology:DOID:1324); brain ischemia (Disease Ontology:DOID:2316); lung non-small cell carcinoma (Disease Ontology:DOID:3908); cholangiocarcinoma (Disease Ontology:DOID:4947); hepatocellular carcinoma (Disease Ontology:DOID:684); amyloidosis (Disease Ontology:DOID:9120); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:7276); (R-HSA-2453902); (R-HSA-3000171); (R-HSA-6798695); (R-HSA-975634); (R-HSA-977225); (R-HSA-9918449)", "pathway_count": 7, "publication_count": 287, "publication_id_list": "10036587;10052934;10071047;10075733;10097139;10211412;10319874;10328977;10391242;10411933;10436378;10439117;10529370;10583407;10611950;10617778;10627135;10671063;10694917;10742177;10753906;10769148;10842705;10842718;10882995;10956649;10986125;11060341;11123914;11181758;11237011;11243784;11274389;11278841;11401442;11418763;11445644;11467836;11560492;11590439;11847221;11866053;118839;12036956;12050338;12177057;12403615;12407145;12454989;12557757;12665801;1270801;12771253;1279089;12820260;12876326;1301926;1351039;1362222;1436517;14506261;14567678;14583036;14711308;14760718;15064394;1517749;1520326;1520336;15214015;15217993;15314061;15358783;1542003;1544214;15471866;15478468;15583000;1570831;15735344;15769474;15826192;15865448;15962837;15981995;16174740;16185074;16200213;16335952;1656975;16627944;1666289;16799559;16806867;16939223;17175208;17196219;17255476;17273977;1734866;17425515;17453626;17503405;17525477;17577687;17635579;17644776;18065497;18070888;18087047;18095641;18155178;18221012;18295589;1837051;18449172;18460466;18484335;1849145;18507396;1856611;18662699;1877623;18811132;19011241;19014918;19021760;19049981;19065295;19139408;19167329;19213032;1925597;19309693;1932142;19658395;1979335;19828817;1997217;2015890;201845;20192770;2046936;20676056;20807650;21081667;21106934;2118650;21493626;2161654;21774515;21851338;2195544;22065755;22131221;22665496;2303470;23317988;23462670;2363717;23650620;23813966;2409350;24106281;24833601;24893886;2542268;25502872;25523424;26018760;26417681;26668317;26686862;26807092;26992070;2793848;279930;2891727;2900981;29557506;2990465;2995367;3022108;3035556;3053705;3080684;3094007;3135807;3142462;3170584;31844290;32157095;32350084;32488085;32983136;33043033;33592498;34087483;35051231;36284347;3675579;3675594;3714052;3722385;37938771;3818577;38801321;38843135;38909653;38925327;38946492;39133861;3942763;4044580;4054629;4216640;4345202;4607556;5057882;5315589;5675424;6093805;6288450;6300852;6342691;6420172;6487335;6512705;6583672;6589631;6651852;6679757;671542;6961410;7474944;7599630;7655883;7683668;7754382;7850982;7910950;7914929;7923855;7929238;8017323;8019560;8033412;8038017;8081397;8089102;8095302;8097946;8105993;8114934;8133316;8159701;8257997;8309582;8352764;8382610;8384721;8428915;8464497;8490014;8579098;8692836;8728311;8870004;8884265;8990019;9006323;9054935;9066351;9490294;9541407;9605286;9659899;9659900;9703434;9733771;9789022;9818054;9818883;9862427;9888420;9920938;9925661", "class_list": "", "function": "Conformational Dynamics of an Amyloidogenic Intermediate of Transthyretin: Implications for Structural Remodeling and Amyloid Formation., [RefSeq, PubMed]; Conservation of kinetic stability, but not the unfolding mechanism, between human transthyretin and a transthyretin-related enzyme., [RefSeq, PubMed]; Modeling transthyretin (TTR) amyloid diseases, from monomer to amyloid fibrils. Publication Status: Online-Only, [RefSeq, PubMed]; Structural and thermodynamic characterization of a highly amyloidogenic dimer of transthyretin involved in a severe cardiomyopathy., [RefSeq, PubMed]; This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]., [RefSeq]; Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Transthyretin monomers: a new plasma biomarker for pre-symptomatic transthyretin-related amyloidosis., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 15, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q549C7;Q6IB96;Q9UBZ6;Q9UCM9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0042562 hormone binding;GO:0044877 protein-containing complex binding;GO:0005179 hormone activity;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0035578 azurophil granule lumen;GO:0032991 protein-containing complex", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0006144 purine nucleobase metabolic process", "synthesized_glycan_count": 0, "hit_score": 28.9, "record_id": "P02766-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX08-1", "uniprot_id": [ { "id": "COMD8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX08", "type": "external" } ], "mass": 21090.0, "length": 183, "protein_name": "COMM domain-containing protein 8", "gene_name": "COMMD8", "organism": "Human", "refseq_name": "COMM domain-containing protein 8 isoform 2", "refseq_ac": [ { "id": "NP_001316597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316597", "type": "external" } ], "gene_names_uniprotkb": "COMMD8; MDS022", "gene_names_refseq": "COMMD8", "protein_names_uniprotkb": "COMM domain-containing protein 8", "protein_names_refseq": "COMM domain-containing protein 8 isoform 2; COMM domain-containing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:54951); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 171, "publication_id_list": "10535940;10597293;10811609;10878807;10973499;11069780;11259415;11292861;11292862;11454738;11585840;11733065;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23481700;23535662;23535663;23563313;23583660;23637203;23912815;23986495;24076655;24366543;24636985;24714562;24715725;24793695;24793696;25314029;25349211;25355947;25418920;25531226;25576301;25802875;26154972;26344709;26375851;26460955;26632597;26728094;26906416;26929215;26992070;27030794;27222660;27397612;27565346;27600516;27846572;27862975;27920218;28115426;28228285;28832583;28892079;28904123;29153394;29242379;29493099;29508533;29557506;29786170;30315122;30410026;30429286;30524438;30610225;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32005965;32157095;32284348;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33444648;33537174;33592498;33691108;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34932366;35051231;35580925;36010968;36215666;36241641;37172566;38459129;9790970;9887101;9891082", "class_list": "", "function": "Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). May down-regulate activation of NF-kappa-B (PubMed:15799966)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WUR4;Q9HC15", "ec_number_list": [], "go_molecular_function": "GO:0051059 NF-kappaB binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q9NX08-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D09-1", "uniprot_id": [ { "id": "GASP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D09", "type": "external" } ], "mass": 93773.0, "length": 838, "protein_name": "G protein-coupled receptor-associated sorting protein 2", "gene_name": "GPRASP2", "organism": "Human", "refseq_name": "G-protein coupled receptor-associated sorting protein 2", "refseq_ac": [ { "id": "NP_001004051", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004051", "type": "external" } ], "gene_names_uniprotkb": "GPRASP2", "gene_names_refseq": "DFNX7; GASP2; GPRASP2", "protein_names_uniprotkb": "G protein-coupled receptor-associated sorting protein 2; GASP-2", "protein_names_refseq": "G-protein coupled receptor-associated sorting protein 2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); X-linked deafness 7 (Disease Ontology:DOID:0111738); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:100528062); (hsa:114928)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "15086532;15302935;16835690;20479760;25576301;28096187;28832583;29557506;30379171;30429286;31154438;31848261;32157095;32488085;32502341;33592498;33968037;34171305;35051231;36241641;37938771", "class_list": "", "function": "May play a role in regulation of a variety of G protein coupled receptors., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; That huntingtin protein and GASP2 form a complex in cotransfected mammalian cells, [RefSeq, PubMed]; The protein encoded by this gene is a member of a family that regulates the activity of G protein-coupled receptors (GPCRs). The encoded protein has been shown to be capable of interacting with several GPCRs, including the M1 muscarinic acetylcholine receptor and the calcitonin receptor. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DXA0;Q8NAB4", "ec_number_list": [], "go_molecular_function": "GO:0001540 amyloid-beta binding;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q96D09-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TA76-1", "uniprot_id": [ { "id": "LCE3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TA76", "type": "external" } ], "mass": 9146.0, "length": 89, "protein_name": "Late cornified envelope protein 3A", "gene_name": "LCE3A", "organism": "Human", "refseq_name": "late cornified envelope protein 3A", "refseq_ac": [ { "id": "NP_848518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848518", "type": "external" } ], "gene_names_uniprotkb": "LCE3A; LEP13", "gene_names_refseq": "LCE3A; LEP13", "protein_names_uniprotkb": "Late cornified envelope protein 3A; Late envelope protein 13", "protein_names_refseq": "late cornified envelope protein 3A; late envelope protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:353142); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;19601998;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;28634035;29397434;34029573;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "A structural component of the cornified envelope of the stratum corneum involved in innate cutaneous host defense (Probable). Possesses defensin-like antimicrobial activity against a broad spectrum of Gram-positive and Gram-negative bacteria, both aerobic and anaerobic species. Upon inflammation, may regulate skin barrier repair by shaping cutaneous microbiota composition and immune response to bacterial antigens (PubMed:28634035)., [UniProtKB, PubMed]; Functional Mapping of Genetic Interactions between HLA-Cw6 and LCE3A in Psoriasis., [RefSeq, PubMed]; Genetic polymorphism is associated with psoriasis vulgaris among Mongolians from Inner Mongolia, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0031640 killing of cells of another organism", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q5TA76-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TA81-1", "uniprot_id": [ { "id": "LCE2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TA81", "type": "external" } ], "mass": 11224.0, "length": 110, "protein_name": "Late cornified envelope protein 2C", "gene_name": "LCE2C", "organism": "Human", "refseq_name": "late cornified envelope protein 2C", "refseq_ac": [ { "id": "NP_848516", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848516", "type": "external" } ], "gene_names_uniprotkb": "LCE2C; LEP11", "gene_names_refseq": "LCE2C; LEP11", "protein_names_uniprotkb": "Late cornified envelope protein 2C; Late envelope protein 11", "protein_names_refseq": "late cornified envelope protein 2C; late envelope protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:353140); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;15854049;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;36804407;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Paper describing nomenclature changes and expression in range of tissues and in response to UV, [RefSeq, PubMed]; Precursors of the cornified envelope of the stratum., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "GO:0031424 keratinization", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5TA81-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPY5-1", "uniprot_id": [ { "id": "XCT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPY5", "type": "external" } ], "mass": 55423.0, "length": 501, "protein_name": "Cystine/glutamate transporter", "gene_name": "SLC7A11", "organism": "Human", "refseq_name": "cystine/glutamate transporter", "refseq_ac": [ { "id": "NP_055146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055146", "type": "external" } ], "gene_names_uniprotkb": "SLC7A11", "gene_names_refseq": "CCBR1; SLC7A11; xCT", "protein_names_uniprotkb": "Cystine/glutamate transporter; Amino acid transport system xc-; Calcium channel blocker resistance protein CCBR1; Solute carrier family 7 member 11; xCT", "protein_names_refseq": "amino acid transport system xc-; calcium channel blocker resistance protein CCBR1; cystine/glutamate transporter; solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11; solute carrier family 7, (cationic amino acid transporter, y+ system) member 11", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); tongue squamous cell carcinoma (Disease Ontology:DOID:0050865); opioid abuse (Disease Ontology:DOID:11206); platelet storage pool deficiency (Disease Ontology:DOID:2223); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)", "pathway": " (hsa:23657); (R-HSA-210991); (R-HSA-352230); (R-HSA-9818027)", "pathway_count": 4, "publication_count": 143, "publication_id_list": "10358010;10391915;10485994;10698697;10706635;10733945;10821856;10823827;10863037;10880960;10891391;10903140;10921872;10930503;11133847;11213471;11237011;11243884;11278508;11309284;11318953;11342143;11417227;11591158;11719518;11827462;11943775;12202949;12234984;12235164;12506115;12527723;12558975;12809675;12930836;14707126;14722095;15151999;15448164;15520857;15590625;15659399;15728556;15901826;15918515;15946952;16260747;16314513;17081983;17234762;17942419;17996943;18195088;18691976;19028565;19273602;19369195;19608619;19651622;20460467;21097500;21775727;22667998;22995213;23027624;23186163;24041992;24652292;25002527;25418920;25576301;25645385;25892735;26811146;26992070;27100828;27653015;27756681;28411811;28467828;28648777;28904123;28985506;29242379;29693710;29959055;30484775;31020640;31597407;31844290;32157095;32265295;32284348;32350084;32357974;32387766;32488085;32601262;32897882;32938616;32983136;33043019;33043033;33392160;33462411;33592498;33717175;33774477;33912179;33968037;33981976;34087483;34120018;34171305;34185709;34357683;34725712;34880232;35051231;35154160;35245456;35352032;35580925;36010968;36241641;36581221;37867237;39262240;40246981;40280132;40596516;41018975;7589472;7959763;8010975;8101838;8340364;8702519;8910405;9174363;9240432;9360995;9878049", "class_list": "", "function": "Expression and significance of cystine transporter SLC7A11/xCT in early colorectal cancer specimens from endoscopic submucosal dissection. Publication Status: Online-Only, [RefSeq, PubMed]; Heterodimer with SLC3A2, that functions as an antiporter by mediating the exchange of extracellular anionic L-cystine and intracellular L-glutamate across the cellular plasma membrane (PubMed:11133847, PubMed:11417227, PubMed:14722095, PubMed:15151999, PubMed:34880232, PubMed:35245456, PubMed:35352032). Provides L-cystine for the maintenance of the redox balance between extracellular L-cystine and L-cysteine and for the maintenance of the intracellular levels of glutathione that is essential for cells protection from oxidative stress (By similarity). The transport is sodium-independent, electroneutral with a stoichiometry of 1:1, and is drove by the high intracellular concentration of L-glutamate and the intracellular reduction of L-cystine (PubMed:11133847, PubMed:11417227). Acts as an inhibitor of ferroptosis by mediating the import of L-kynurenine leading to anti-ferroptotic signaling propagation required to maintain L-cystine and glutathione homeostasis (PubMed:35245456, PubMed:40246981). Also inhibits ferroptosis by acting as an atypical proton transporter that mediates a slow proton efflux from lysosomes via cystine and glutamate flux (PubMed:40280132). Glutamate and cystine contain side-chain groups that are protonatable in the physiological range of lysosomal pH and cytosolic pH, respectively, enabling a slow lysosomal proton leak through a substrate-as-proton mechanism (PubMed:40280132). Moreover, mediates N-acetyl-L-cysteine uptake into the placenta leading to subsequently down-regulation of pathways associated with oxidative stress, inflammation and apoptosis (PubMed:34120018). In vitro can also transport L-aspartate (PubMed:11417227). May participate in astrocyte and meningeal cell proliferation during development and can provide neuroprotection by promoting glutathione synthesis and delivery from non-neuronal cells such as astrocytes and meningeal cells to immature neurons (By similarity). Controls the production of pheomelanin pigment directly (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K2U4", "ec_number_list": [], "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0015327 cystine:glutamate antiporter activity;GO:0015252 proton channel activity;GO:0022840 leak channel activity;GO:0140926 L-kynurenine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0097449 astrocyte projection;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0009636 response to toxic substance;GO:0015811 L-cystine transport;GO:0035752 lysosomal lumen pH elevation;GO:0003333 amino acid transmembrane transport;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q9UPY5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZQ3-1", "uniprot_id": [ { "id": "COMD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZQ3", "type": "external" } ], "mass": 24670.0, "length": 224, "protein_name": "COMM domain-containing protein 5", "gene_name": "COMMD5", "organism": "Human", "refseq_name": "COMM domain-containing protein 5", "refseq_ac": [ { "id": "NP_001074472", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074472", "type": "external" } ], "gene_names_uniprotkb": "COMMD5; HT002", "gene_names_refseq": "COMMD5; HCARG; HT002", "protein_names_uniprotkb": "COMM domain-containing protein 5; HCaRG; Hypertension-related calcium-regulated gene protein", "protein_names_refseq": "COMM domain-containing protein 5; hypertension-related calcium-regulated gene protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:28991); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 136, "publication_id_list": "10535940;10597293;10811609;10878807;10918053;10931946;10973499;11069780;11237011;11259415;11292861;11292862;11454738;11585840;11733065;11871861;11961546;12101228;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;14690597;14757770;15282312;15361859;15367669;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15799966;16171779;16401342;16547496;16647857;16707496;16790436;16943200;17081101;17132228;17183367;17220875;17332328;17497243;17785452;18093314;18206966;18775313;18776931;18805092;18826954;18851830;18926707;18949406;19250909;19321346;19617556;19748355;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23535662;23535663;23563313;23583660;23637203;23912815;23986495;24076655;24366543;24636985;24793695;24793696;25314029;25349211;25355947;25418920;25531226;26154972;26344709;26460955;26632597;26906416;26929215;27030794;27222660;27565346;27846572;27862975;27920218;28063628;28115426;28832583;29153394;29242379;29393594;29557506;29632046;29786170;30610225;30779550;31844290;32005965;32284348;32387766;33298915;33444648;33968037;34171305;34509645;35051231;36010968;37172566;38459129;9790970;9887101;9891082", "class_list": "", "function": "Scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos; the commander complex is composed of the CCC subcomplex and the retriever subcomplex (PubMed:37172566, PubMed:38459129). May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes (PubMed:21778237). Negatively regulates cell proliferation (By similarity). Negatively regulates cell cycle G2/M phase transition probably by transactivating p21/CDKN1A through the p53/TP53-independent signaling pathway (By similarity). Involved in kidney proximal tubule morphogenesis (By similarity). Down-regulates activation of NF-kappa-B (PubMed:15799966)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; The gene for human HCaRG is located on chromosome 8q24.3., [RefSeq, PubMed]; The up-regulation of HCaRG may be one of the mechanisms underlying the chemopreventive effect of rosiglitazone in gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DWN7;Q9NVN6;Q9UHX5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0010008 endosome membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0032456 endocytic recycling", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q9GZQ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70Z53-1", "uniprot_id": [ { "id": "F10C1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70Z53", "type": "external" } ], "mass": 37548.0, "length": 315, "protein_name": "Protein FRA10AC1", "gene_name": "FRA10AC1", "organism": "Human", "refseq_name": "protein FRA10AC1", "refseq_ac": [ { "id": "NP_001334641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334641", "type": "external" } ], "gene_names_uniprotkb": "FRA10AC1; C10orf4; PRO2972", "gene_names_refseq": "C10orf4; F26C11.1-like; FRA10AC1; FRA10A; NEDGFC", "protein_names_uniprotkb": "Protein FRA10AC1", "protein_names_refseq": "fragile site 10q23.3; fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1; protein FRA10AC1; rare folic acid-type fragile site, FRA(10)(q23.3), candidate gene 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (MONDO:MONDO:0859312)", "pathway": " (hsa:118924)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11483580;15203205;16385451;18669648;19413330;19651622;19690332;23186163;23481700;25892735;26252872;26992070;27600516;27920218;28228285;28904123;29557506;29769354;29789417;30429286;30779550;31844290;32157095;32938616;33717175;33912179;33968037;34171305;34694367;34932366;35051231;35580925;35821753;35871492;36284347", "class_list": "", "function": "Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation., [RefSeq, PubMed]; May be involved in pre-mRNA splicing., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a nuclear phosphoprotein of unknown function. This gene contains a tandem CGG repeat region within a CpG island that normally consists of 8-14 repeats but can expand to over 200 repeats. The repeat region is within the 5' UTR of some transcript variants, but is intronic to another variant. The expanded repeat allele is a fragile site and becomes hypermethylated, causing a reduction in gene expression. A disease phenotype has not been associated with expanded alleles. This gene is found within the rare FRA10A folate-sensitive fragile site. [provided by RefSeq, Dec 2016]., [RefSeq]; Variants in FRA10AC1 associated with CSF Abeta1-42 level passing the genome-wide significance threshold, were identified. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C9JCR4;C9JCR5;C9JMY4;Q70Z49;Q70Z50;Q70Z51;Q70Z52;Q8N293;Q8WVH5;Q96JQ8", "ec_number_list": [], "go_molecular_function": "GO:0016791 phosphatase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q70Z53-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75409-1", "uniprot_id": [ { "id": "HYPM_HUMAN", "url": "https://www.uniprot.org/uniprot/O75409", "type": "external" } ], "mass": 13442.0, "length": 117, "protein_name": "Huntingtin-interacting protein M", "gene_name": "H2AP", "organism": "Human", "refseq_name": "huntingtin-interacting protein M", "refseq_ac": [ { "id": "NP_036406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036406", "type": "external" } ], "gene_names_uniprotkb": "H2AP; CXorf27; HYPM", "gene_names_refseq": "CXorf27; H2AP; HIP17; HYPM", "protein_names_uniprotkb": "Huntingtin-interacting protein M; Histone H2A.P; Huntingtin yeast partner M", "protein_names_refseq": "histone H2A.P; huntingtin interacting protein M; huntingtin yeast partner M; huntingtin-interacting protein M", "tax_id": 9606, "disease": "", "pathway": " (hsa:25763)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "9700202", "class_list": "", "function": "This gene encodes a protein shown to interact with huntingtin, which contains an expanded polyglutamine tract in individuals with Huntington's disease (PMID: 9700202). [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1A4D3", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0030527 structural constituent of chromatin", "go_cellular_component": "GO:0005634 nucleus;GO:0000786 nucleosome", "go_biological_process": "GO:0031507 heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "O75409-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92764-1", "uniprot_id": [ { "id": "KRT35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92764", "type": "external" } ], "mass": 50361.0, "length": 455, "protein_name": "Keratin, type I cuticular Ha5", "gene_name": "KRT35", "organism": "Human", "refseq_name": "keratin, type I cuticular Ha5", "refseq_ac": [ { "id": "NP_002271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002271", "type": "external" } ], "gene_names_uniprotkb": "KRT35; HHA5; HKA5; KRTHA5", "gene_names_refseq": "HA5; Ha-5; K35; KRT35; KRTHA5; hHa5", "protein_names_uniprotkb": "Keratin, type I cuticular Ha5; Hair keratin, type I Ha5; K35; Keratin-35", "protein_names_refseq": "HHa5 hair keratin type I intermediate filament; hair keratin, type I Ha5; hard keratin, type I, 5; keratin 35, type I; keratin, hair, acidic, 5; keratin, type I cuticular Ha5", "tax_id": 9606, "disease": "", "pathway": " (hsa:3886); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12902340;15033990;15140206;15337775;15373777;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17562024;17596512;18021261;18843291;19190773;19194479;20068231;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23481192;23629652;2414304;25208914;25926655;26390218;33968037;35580925;7543090;8823373;8824274;8999895;9395522;9468612;9565599;9756910", "class_list": "", "function": "P65 induces transcriptional activation of Ha5. It is co-expressed with it & may mediate the NF-kappaB pathway's activity. There are major NF-kappaB/RelA binding sites in its regulatory region; p65 binds directly to these sites., [RefSeq, PubMed]; The co-expression of hair keratin hHa5 with its regulatory nuclear homeoprotein HOXC13 in matrix cells of the hair follicle is maintained in lower transitional cells of pilomatricomas, [RefSeq, PubMed]; The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O76012;Q92651", "ec_number_list": [], "go_molecular_function": "GO:0030280 structural constituent of skin epidermis;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0070062 extracellular exosome;GO:0045095 keratin filament", "go_biological_process": "GO:0030855 epithelial cell differentiation;GO:0045109 intermediate filament organization;GO:0009653 anatomical structure morphogenesis;GO:0002009 morphogenesis of an epithelium", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q92764-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61326-1", "uniprot_id": [ { "id": "MGN_HUMAN", "url": "https://www.uniprot.org/uniprot/P61326", "type": "external" } ], "mass": 17164.0, "length": 146, "protein_name": "Protein mago nashi homolog", "gene_name": "MAGOH", "organism": "Human", "refseq_name": "protein mago nashi homolog", "refseq_ac": [ { "id": "NP_002361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002361", "type": "external" } ], "gene_names_uniprotkb": "MAGOH; MAGOHA", "gene_names_refseq": "MAGOH1; MAGOHA; MAGOH", "protein_names_uniprotkb": "Protein mago nashi homolog", "protein_names_refseq": "mago homolog, exon junction complex core component; mago-nashi homolog, proliferation-associated; protein mago nashi homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:4116); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-9010553); (R-HSA-975957)", "pathway_count": 6, "publication_count": 213, "publication_id_list": "10228171;10323864;10489353;10662555;10668806;10882114;11014198;11073998;11101529;11233976;11256625;11259411;11259602;11331269;11532962;11544179;11546874;11551508;11579093;11739738;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12417715;12477934;12554878;12718880;12730685;12781131;12832468;12871933;14527413;14625303;14636577;14713954;14742663;14968132;14973490;15034551;15546618;15721257;15998806;16170325;16186820;16209946;16284618;16314397;16314458;16452507;16601204;16809785;16923391;16931718;17000901;17053788;17095540;17190602;17332742;17352659;17363904;17606899;17803942;17893241;17984224;18026120;18066079;18256688;18322460;18364396;18411249;18423201;18423202;18524595;18593880;18657639;18957205;18974281;19033377;19060897;19103666;19150429;19165350;19324961;19359157;19410547;19417104;19478851;19503078;19536130;19556969;19706539;19836239;19859661;19909264;20023408;20129943;20423332;20479275;20573985;20691628;20817927;20844015;20930030;20980672;21145460;21419344;21536652;2176635;21947206;22110043;22203037;22207203;22223895;22365833;22893130;22928037;22959432;22961380;23085078;23217742;23222130;23234702;23236153;23299939;23301498;23345524;23746841;23826332;23917022;24196718;24244187;24304693;24448447;24737827;24914973;25242263;25418920;25555158;2558966;25662211;25836925;26385511;26420826;26969736;26992070;27377154;27459055;27683217;28062851;28076346;28502770;28781166;28832583;28904123;29301961;29360106;29361316;29393594;2963332;30315277;30705154;30728453;30765414;30833945;30975767;31217245;31409651;31530632;31844290;31848261;32157095;32161166;32179686;32329775;32357974;32494006;32897882;32938616;32983136;33243851;33446560;33717175;33936100;34301950;34357683;34561969;34822310;35051231;35385551;36241641;36497117;37020021;37390121;3757028;38268030;38665916;8566756;8608946;9016565;9242493;9479507;9512519;9524131;9539711;9618489;9660949;9671485;9701291;9731529", "class_list": "", "function": "Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008]., [RefSeq]; MAGOH and MAGOHB Knockdown in Melanoma Cells Decreases Nonsense-Mediated Decay Activity and Promotes Apoptosis via Upregulation of GADD45A. Publication Status: Online-Only, [RefSeq, PubMed]; MAGOH is correlated with poor prognosis and is essential for cell proliferation in lower-grade glioma., [RefSeq, PubMed]; MAGOH promotes gastric cancer progression via hnRNPA1 expression inhibition-mediated RONDelta160/PI3K/AKT signaling pathway activation. Publication Status: Online-Only, [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the spliceosome (PubMed:11991638). Plays a redundant role with MAGOHB as core component of the exon junction complex (EJC) and in the nonsense-mediated decay (NMD) pathway (PubMed:23917022). The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S pre-initiation complex. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1ARP8;B2R5A2;O35169;P50606;Q5SW69", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0006406 mRNA export from nucleus;GO:0006417 regulation of translation;GO:0008380 RNA splicing;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P61326-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26038-1", "uniprot_id": [ { "id": "MOES_HUMAN", "url": "https://www.uniprot.org/uniprot/P26038", "type": "external" } ], "mass": 67820.0, "length": 577, "protein_name": "Moesin", "gene_name": "MSN", "organism": "Human", "refseq_name": "moesin isoform 1", "refseq_ac": [ { "id": "NP_002435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002435", "type": "external" } ], "gene_names_uniprotkb": "MSN", "gene_names_refseq": "HEL70; IMD50; MSN", "protein_names_uniprotkb": "Moesin; Membrane-organizing extension spike protein", "protein_names_refseq": "epididymis luminal protein 70; membrane-organizing extension spike protein; moesin isoform 1", "tax_id": 9606, "disease": "immunodeficiency 50 (Disease Ontology:DOID:0112001); primary biliary cholangitis (Disease Ontology:DOID:12236)", "pathway": " (hsa:4478); (R-HSA-437239); (R-HSA-8950505); (R-HSA-9662360); (R-HSA-9662361); (R-HSA-9725370)", "pathway_count": 6, "publication_count": 253, "publication_id_list": "10.1101/2023.09.13.557529;10025409;10212266;10216106;10556217;10608864;10702393;10706082;10706887;10747093;10804209;10818153;10821263;10847681;10934142;10947843;11110708;11163272;11237011;11280786;11310834;11401550;11504915;11728332;11751994;11850821;11943732;11988758;12082080;12112524;12126963;12185581;12387735;12424201;12665801;12750159;12800156;12920229;12934099;12942088;14962911;15020681;15039356;15169778;15208656;15374880;15588951;15895073;16038020;16153455;16161041;16170336;16330023;16601072;16825495;16871283;16939498;17046996;17086210;17353907;17377532;17416736;17447891;17483340;17625570;18025306;18097461;18212344;18452557;18478542;18493596;18541028;18586956;18593892;18594010;18665217;18669648;18701132;18724359;18923523;18923524;18923525;18991276;19027715;1924289;19255442;19278660;19395553;19456272;19459784;19608861;19651622;19690332;20068231;20166139;20429915;20454865;21134980;21164297;21167822;21213368;21415216;21494621;21549406;21596819;21654843;21656749;21838707;21847362;22249260;22251897;22327622;22347464;22570254;22644377;22658521;23104988;23139213;23186163;23201355;23239810;23481700;23661334;23957430;24060861;24445538;24475247;2448316;24496003;24518094;24613930;24714562;24736082;24755472;25342631;25393796;25417112;25421750;25502872;25538739;25576301;25666808;25802875;25813404;25892735;25921060;25947626;26001147;26062823;26154972;26301689;26555866;26634692;26853435;26956714;26992070;27245569;27405666;27573755;27746764;27846572;27862975;27874193;28228285;28404650;28467828;28659337;28741662;28832583;28904123;29242379;29314611;29317506;29320700;29393594;29437277;29455642;29493099;29557506;29632046;29786170;29873274;30013514;30131584;30315122;30379171;30410026;30429286;30460108;30692217;31154438;31217245;31366041;31611695;31844290;32128390;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33214551;33298915;33592498;33633747;33717175;33912179;33936100;33968037;34019948;34171305;34185709;34357683;34509645;34725712;34932366;35051231;35138101;35251023;35267019;35318648;35580925;35718975;36010968;36119109;36284347;37938771;38052292;38141516;38267973;38665916;40914422;7493978;7824924;7884872;8537411;8633037;9213396;9298994;9314537;9456324;9516463;9616160;9651214;9721721;9819383;9856983", "class_list": "", "function": "Ezrin-radixin-moesin (ERM) family protein that connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Tethers actin filaments by oscillating between a resting and an activated state providing transient interactions between moesin and the actin cytoskeleton (PubMed:10212266). Once phosphorylated on its C-terminal threonine, moesin is activated leading to interaction with F-actin and cytoskeletal rearrangement (PubMed:10212266). These rearrangements regulate many cellular processes, including cell shape determination, membrane transport, and signal transduction (PubMed:12387735, PubMed:15039356). The role of moesin is particularly important in immunity acting on both T and B-cells homeostasis and self-tolerance, regulating lymphocyte egress from lymphoid organs (PubMed:9298994, PubMed:9616160). Modulates phagolysosomal biogenesis in macrophages (By similarity). Also participates in immunologic synapse formation (PubMed:27405666)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Hemizygous nonsense variant in the moesin gene (MSN) leads to a new autoimmune phenotype of Immunodeficiency 50. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Neural Progenitor Cell-associated Chemoradiotherapy Resistance Gene Set (ARL4C, MSN, TNFAIP6) for Prognosis of Glioma., [RefSeq, PubMed]; Moesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008]., [RefSeq]; Moesin affects the plasma membrane expression and the immune checkpoint function of CD47 in human ovarian clear cell carcinoma., [RefSeq, PubMed]; The role of moesin in diagnosing and assessing severity of lymphangioleiomyomatosis. Publication Status: Online-Only, [RefSeq, PubMed]; Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005102 signaling receptor binding;GO:0005200 structural constituent of cytoskeleton;GO:0019899 enzyme binding;GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:1902966 positive regulation of protein localization to early endosome;GO:0022614 membrane to membrane docking;GO:0061028 establishment of endothelial barrier;GO:1902115 regulation of organelle assembly;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "P26038-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10599-1", "uniprot_id": [ { "id": "THIO_HUMAN", "url": "https://www.uniprot.org/uniprot/P10599", "type": "external" } ], "mass": 11737.0, "length": 105, "protein_name": "Thioredoxin", "gene_name": "TXN", "organism": "Human", "refseq_name": "thioredoxin isoform 2", "refseq_ac": [ { "id": "NP_001231867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231867", "type": "external" } ], "gene_names_uniprotkb": "TXN; TRDX; TRX1; TRX", "gene_names_refseq": "TRDX; TRX1; TRX; TXN1; TXN; Trx80", "protein_names_uniprotkb": "Thioredoxin; ADF; ATL-derived factor; SASP; Surface-associated sulphydryl protein; Trx", "protein_names_refseq": "ADF; ATL-derived factor; SASP; TXN delta 3; surface-associated sulphydryl protein; testicular tissue protein Li 199; thioredoxin delta 3; thioredoxin isoform 2", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); glaucoma (Disease Ontology:DOID:1686); myocardial infarction (Disease Ontology:DOID:5844); myocarditis (Disease Ontology:DOID:820); intermediate coronary syndrome (Disease Ontology:DOID:8805); steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:7295); (R-HSA-2559580); (R-HSA-3299685); (R-HSA-499943); (R-HSA-5628897); (R-HSA-5676934); (R-HSA-844456); (R-HSA-9617629); (R-HSA-9660826); (R-HSA-9818027)", "pathway_count": 10, "publication_count": 412, "publication_id_list": "10029572;10215863;10329961;10347217;10375640;10452521;10453732;10514471;10521424;10567350;10618642;10656833;10706635;10716435;10722742;10733945;10745013;10772813;10799505;10821856;10833429;10871633;10884394;10899599;10919671;10980602;10982;11018045;11029283;11034341;11118054;11139407;11157473;11277919;11278511;11309284;11313357;11340051;11486029;11498534;11507097;11517226;11518528;11545734;11564866;11786556;11796141;11886899;11912132;11912930;11959846;11967258;12134156;12161445;12189133;12191486;12193592;12203114;12220640;12234984;12235164;12421820;12435631;12438239;12446202;12453409;12506115;12615073;12714747;12808055;12829378;12869586;12906785;12972261;13130464;13211603;13298683;1332947;13538944;14507994;14532106;14595024;14651849;14729598;14761955;14976264;15044467;15046979;15064408;15105503;15220471;15223;15246877;15280035;15287722;15317809;15448164;15520857;15563468;15589136;15590625;15596429;15630091;15728556;15866172;15927447;16140933;16179339;16186825;16314513;16337592;16373698;16401067;16408020;16413492;16436515;16615992;16636147;1668270;16728594;16750198;16756507;16760263;16820675;16826196;16839880;16880213;17036048;17182577;17210787;17234762;17254968;17255097;17260951;17275676;17298220;17320107;17332741;17344414;17349957;17395714;17435760;17486094;17519234;17540029;17603038;17606900;1763037;17703304;17707404;177353;17765224;17824959;17825402;17875933;17942419;18198340;18344994;18358825;18365017;18469;1851158;18635542;18692468;18703498;1874447;18793328;18936159;18997010;19028565;19032234;19113821;19176520;19219623;19220460;19273602;19439913;19451217;19451218;19462008;19487573;19528227;19542232;19570822;19608619;19608861;19690162;19766732;19822145;1998498;1999334;2001356;20023662;20070187;20080666;20182617;20303873;20305658;20351271;20367259;20378837;20460467;20619274;20690882;2071038;21080915;211388;211390;21215271;21385867;21393238;21489611;21740066;21750704;2176490;21775727;2182768;21958598;21967640;21986495;22020331;22325352;22336108;22363791;22493009;22667998;22683641;22847445;22869735;22910329;22995213;23027624;23152058;23164639;23416111;23454490;23455484;23665396;23775793;23817414;23878142;24041992;24066844;24366874;24383451;24714562;24715725;24718924;25002527;25047527;2542324;25576301;25579166;26116704;26154972;26374642;26549800;2656695;26652033;2668278;2684271;26992070;27100828;27397612;27600516;27653015;27756681;27846572;2785919;27862975;27920218;28832583;28834231;28904123;28985506;29242379;29314611;29393594;29493099;29557506;29632711;29693710;29712950;29769354;29786170;29789417;29959055;30397120;30410026;30429286;30444036;30484775;30833945;31217245;31530632;31597407;3170595;31844290;31848261;31998317;32119511;32157095;32284348;32350084;32387766;32488085;32601262;32938616;32983136;33043019;33214551;33462411;33592498;33717175;33774477;33968037;34019948;34171305;34229054;34357683;34509645;3457020;34725712;35051231;35083852;35138101;35154160;35251023;35318648;3532102;35561310;35580925;3619451;36215666;3624258;36284347;36581221;3693360;37217939;37390459;37704723;37938771;38215746;38665916;39020292;40615;450099;5389100;5484814;5666113;60;6182143;6248551;6286671;6961438;7021796;7172448;7487923;7535770;7588633;7592526;7685356;7788295;7816143;7818492;7851394;7859739;7922028;7959763;7979252;7989588;8001816;807573;8078588;8119488;8259215;8319905;8379940;8428933;8448179;8452552;8622669;8622688;8626550;8663313;8663465;8736558;8741839;8774846;8805557;8846784;8974401;9023774;9030721;9108029;9162092;9195981;9240432;9295278;9369223;9369469;9488696;9529249;9564042;9628874;9639555;9677297;9726962;9768359;9824166;9923614;9926927", "class_list": "", "function": "ADF augments the expression of the interleukin-2 receptor TAC (IL2R/P55)., [UniProtKB]; Increased level of TXNIP and nuclear translocation of TXN is associated with end stage renal disease and development of multiplex renal tumours. Publication Status: Online-Only, [RefSeq, PubMed]; Participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyzes dithiol-disulfide exchange reactions (PubMed:17182577, PubMed:19032234, PubMed:2176490). Plays a role in the reversible S-nitrosylation of cysteine residues in target proteins, and thereby contributes to the response to intracellular nitric oxide. Nitrosylates the active site Cys of CASP3 in response to nitric oxide (NO), and thereby inhibits caspase-3 activity (PubMed:16408020, PubMed:17606900). Induces the FOS/JUN AP-1 DNA-binding activity in ionizing radiation (IR) cells through its oxidation/reduction status and stimulates AP-1 transcriptional activity (PubMed:11118054, PubMed:9108029)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural basis for thioredoxin-mediated suppression of NLRP1 inflammasome., [RefSeq, PubMed]; The interaction between NLRP1 and oxidized TRX1 involves a transient disulfide bond., [RefSeq, PubMed]; The mRNA expression of genes encoding selected antioxidant enzymes and thioredoxin, and the concentrations of their protein products in gingival crevicular fluid and saliva during periodontitis., [RefSeq, PubMed]; The protein encoded by this gene acts as a homodimer and is involved in many redox reactions. The encoded protein is active in the reversible S-nitrosylation of cysteines in certain proteins, which is part of the response to intracellular nitric oxide. This protein is found in the cytoplasm. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1ALW1;O60744;Q53X69;Q96KI3;Q9UDG5", "ec_number_list": [], "go_molecular_function": "GO:0004791 thioredoxin-disulfide reductase (NADPH) activity;GO:0003723 RNA binding;GO:0042803 protein homodimerization activity;GO:0015035 protein-disulfide reductase activity;GO:0047134 protein-disulfide reductase [NAD(P)H] activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0045454 cell redox homeostasis;GO:0009314 response to radiation;GO:0043388 positive regulation of DNA binding", "synthesized_glycan_count": 0, "hit_score": 41.5, "record_id": "P10599-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48023-1", "uniprot_id": [ { "id": "TNFL6_HUMAN", "url": "https://www.uniprot.org/uniprot/P48023", "type": "external" } ], "mass": 31485.0, "length": 281, "protein_name": "Tumor necrosis factor ligand superfamily member 6", "gene_name": "FASLG", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 6 isoform 1", "refseq_ac": [ { "id": "NP_000630", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000630", "type": "external" } ], "gene_names_uniprotkb": "FASLG; APT1LG1; CD95L; FASL; TNFSF6", "gene_names_refseq": "ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L; FASLG; FASL; TNFSF6; TNLG1A", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 6; APTL; Apoptosis antigen ligand; CD95 ligand; CD95-L; Fas antigen ligand; Fas ligand; FasL; Receptor-binding FasL ectodomain; SPA; SPPL2A-processed FasL form; Soluble Fas ligand; sFasL", "protein_names_refseq": "CD95 ligand; Fas ligand (TNF superfamily, member 6); apoptosis (APO-1) antigen ligand 1; apoptosis antigen ligand; fas antigen ligand; mutant tumor necrosis factor family member 6; tumor necrosis factor ligand 1A; tumor necrosis factor ligand superfamily member 6 isoform 1; tumor necrosis factor ligand superfamily member 6", "tax_id": 9606, "disease": "biliary tract benign neoplasm (Disease Ontology:DOID:0050625); myelodysplastic syndrome (Disease Ontology:DOID:0050908); brain glioma (Disease Ontology:DOID:0060108); graft-versus-host disease (Disease Ontology:DOID:0081267); pre-eclampsia (Disease Ontology:DOID:10591); gastric ulcer (Disease Ontology:DOID:10808); urinary bladder cancer (Disease Ontology:DOID:11054); diabetic angiopathy (Disease Ontology:DOID:11713); leiomyoma (Disease Ontology:DOID:127); Huntington's disease (Disease Ontology:DOID:12858); HELLP syndrome (Disease Ontology:DOID:13133); lung cancer (Disease Ontology:DOID:1324); clonorchiasis (Disease Ontology:DOID:13767); Parkinson's disease (Disease Ontology:DOID:14330); cystic fibrosis (Disease Ontology:DOID:1485); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); hepatitis B (Disease Ontology:DOID:2043); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); transitional cell carcinoma (Disease Ontology:DOID:2671); substance-related disorder (Disease Ontology:DOID:303); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); invasive lobular carcinoma (Disease Ontology:DOID:3457); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); liver disease (Disease Ontology:DOID:409); seminoma (Disease Ontology:DOID:4440); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); cholangiocarcinoma (Disease Ontology:DOID:4947); congestive heart failure (Disease Ontology:DOID:6000); autoimmune lymphoproliferative syndrome (Disease Ontology:DOID:6688); hepatocellular carcinoma (Disease Ontology:DOID:684); abdominal aortic aneurysm (Disease Ontology:DOID:7693); chronic myeloid leukemia (Disease Ontology:DOID:8552); infectious mononucleosis (Disease Ontology:DOID:8568); ulcerative colitis (Disease Ontology:DOID:8577); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:356); (R-HSA-140534); (R-HSA-3371378); (R-HSA-5213460); (R-HSA-5218900); (R-HSA-6785807); (R-HSA-69416); (R-HSA-75157); (R-HSA-8862803); (R-HSA-9614657)", "pathway_count": 10, "publication_count": 179, "publication_id_list": "10023775;10102273;10219247;10369418;10510379;10586089;10604467;10639123;10830966;10837247;10867011;10894160;11058569;11084045;11104795;11120780;11278437;11278729;11356008;11384965;11404481;11463377;11463813;11717445;11777915;11853546;11960372;12165095;12181749;12198154;12215447;12223527;12242343;12600988;12620239;12620240;12832402;12887920;12912912;14576824;14634100;14701673;14712222;15024054;15116091;15261459;15289496;15509806;15584925;15590058;15760909;15805299;15814722;15869882;15950906;16007214;16048438;16107692;16205632;16236134;16397018;16451196;16510571;16540365;16606674;16943287;17164290;17427945;17458857;17557115;17572495;18158893;18190721;18243101;18256533;18353781;18447642;18485876;18644974;18691386;18838202;19124156;19185846;19278658;19397496;19416807;19524512;19524513;19683492;19807924;20218968;20308068;20493732;20696707;20951169;20978166;21102457;21235526;21252155;21689689;21730069;21737330;21937440;21994466;22046235;22205702;22265413;22383755;22412893;22421439;22693070;22817896;22851691;22899714;23086340;23124025;23172665;23455323;23555662;23707940;23967200;24059293;24097101;24316671;24703947;24743777;24813885;25234944;26334989;26715362;27561725;27806260;29533771;29681455;29786170;29930286;31154438;32269263;32561730;35051231;36671466;37431614;37837385;38253038;38363216;7510216;7512451;7528780;7529288;7530336;7536190;7698360;7795521;7796300;7826947;7898939;7907877;7980502;8085155;8521815;8602263;8621622;8663118;8668165;8681376;8787672;8797861;8816495;9013879;9228058;9228946;9427603;9651359;9721089;9723655;9736340;9822675;9874564;9880531", "class_list": "", "function": "CD95L concatemers highlight different stoichiometries of CD95-mediated apoptotic and nonapoptotic pathways., [RefSeq, PubMed]; Cytokine that binds to TNFRSF6/FAS, a receptor that transduces the apoptotic signal into cells (PubMed:26334989, PubMed:9228058). Involved in cytotoxic T-cell-mediated apoptosis, natural killer cell-mediated apoptosis and in T-cell development (PubMed:7528780, PubMed:9228058, PubMed:9427603). Initiates fratricidal/suicidal activation-induced cell death (AICD) in antigen-activated T-cells contributing to the termination of immune responses (By similarity). TNFRSF6/FAS-mediated apoptosis also has a role in the induction of peripheral tolerance (By similarity). Binds to TNFRSF6B/DcR3, a decoy receptor that blocks apoptosis (PubMed:27806260)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Cytoplasmic form induces gene transcription inhibition., [UniProtKB, PubMed]; Induces FAS-mediated activation of NF-kappa-B, initiating non-apoptotic signaling pathways (By similarity). Can induce apoptosis but does not appear to be essential for this process (PubMed:27806260)., [UniProtKB, UniProtKB, PubMed]; Plasma Levels of sFas-sFasL and FASL Gene Expression Are Associated with Tuberculosis. Publication Status: Online-Only, [RefSeq, PubMed]; Synthesis of N-Glycosylated Soluble Fas Ligand., [RefSeq, PubMed]; The complex web of FasL: cell type-specific roles in affecting and controlling acute graft-vs-host disease., [RefSeq, PubMed]; This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 40, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q9BZP9", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0005123 death receptor binding;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0030644 intracellular chloride ion homeostasis;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "P48023-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969Q1-1", "uniprot_id": [ { "id": "TRI63_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969Q1", "type": "external" } ], "mass": 40248.0, "length": 353, "protein_name": "E3 ubiquitin-protein ligase TRIM63", "gene_name": "TRIM63", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM63", "refseq_ac": [ { "id": "NP_115977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115977", "type": "external" } ], "gene_names_uniprotkb": "TRIM63; IRF; MURF1; RNF28; SMRZ", "gene_names_refseq": "CMH31; IRF; MURF1; MURF2; RNF28; SMRZ; TRIM63", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM63; 2.3.2.27; Iris RING finger protein; MuRF-1; MuRF1; Muscle-specific RING finger protein 1; RING finger protein 28; RING-type E3 ubiquitin transferase TRIM63; Striated muscle RING zinc finger protein; Tripartite motif-containing protein 63", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM63; RING-type E3 ubiquitin transferase TRIM63; iris ring finger protein; muscle specific ring finger protein 2; muscle-specific RING finger protein 1; ring finger protein 28; striated muscle RING zinc finger protein; tripartite motif containing 63, E3 ubiquitin protein ligase; tripartite motif-containing protein 63", "tax_id": 9606, "disease": "primary pulmonary hypertension (Disease Ontology:DOID:14557); muscular atrophy (Disease Ontology:DOID:767); muscular dystrophy (Disease Ontology:DOID:9884); cardiomyopathy, familial hypertrophic, 31 (MONDO:MONDO:0979573)", "pathway": " (hsa:84676); (R-HSA-9615017); (R-HSA-983168)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10102273;10217147;10358014;10480625;10913147;11062501;11243782;11283016;11350924;11679633;11779849;11927605;12107412;12239572;12646216;14734113;15224091;15224092;15571818;16595681;16783365;16840535;16849449;16954532;18222470;18468620;18662542;18795805;19028597;19352404;19452197;19489725;19851334;19874575;19940261;21536589;2261476;22821932;24028821;24040102;24865491;25801283;26345447;27547294;30372688;30379171;31844290;32157095;32451364;32457115;32488085;35051231;35580925;38393424;9380723;9668046", "class_list": "", "function": "E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti-hypertrophic PKC-mediated signaling pathway. May regulate the organization of myofibrils through TTN in muscle cells., [UniProtKB, PubMed, PubMed, PubMed]; Evaluation of TRIM63 RNA in situ hybridization (RNA-ISH) as a potential biomarker for alveolar soft-part sarcoma (ASPS). Publication Status: Online-Only, [RefSeq, PubMed]; Interacts with titin to regulate sarcomeric M-line and thick filament structure and may have nuclear functions via its interaction with glucocorticoid modulatory element binding protein-1., [RefSeq, PubMed]; Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy., [RefSeq, PubMed]; Myeloma cells shift osteoblastogenesis to adipogenesis by inhibiting the ubiquitin ligase MURF1 in mesenchymal stem cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DN95;Q5T2I1;Q96BD3;Q96KD9;Q9BYV4", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031432 titin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0030018 Z disc;GO:0031430 M band", "go_biological_process": "GO:0007165 signal transduction;GO:0045087 innate immune response;GO:0051384 response to glucocorticoid;GO:0016567 protein ubiquitination;GO:0014732 skeletal muscle atrophy", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q969Q1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKY7-1", "uniprot_id": [ { "id": "CDV3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKY7", "type": "external" } ], "mass": 27335.0, "length": 258, "protein_name": "Protein CDV3 homolog", "gene_name": "CDV3", "organism": "Human", "refseq_name": "protein CDV3 homolog isoform a", "refseq_ac": [ { "id": "NP_001127894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127894", "type": "external" } ], "gene_names_uniprotkb": "CDV3; H41", "gene_names_refseq": "CDV3; H41", "protein_names_uniprotkb": "Protein CDV3 homolog", "protein_names_refseq": "carnitine deficiency-associated gene expressed in ventricle 3; protein CDV3 homolog isoform a; protein CDV3 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55573)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10497265;11237011;12359334;15144186;15592455;16094384;16497976;17016520;17287340;17389395;18212344;18669648;18707149;18767875;19651622;19901323;20068231;21406692;23186163;23481700;24275569;24715725;25502872;25548167;25576301;25645385;25892735;26375851;26992070;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;30315122;30429286;30484775;30779550;31217245;31373491;31844290;32119511;32157095;32350084;32357974;32488085;32897882;32938616;32983136;33214551;33537174;33592498;33936100;33968037;33981976;34019948;34087483;34185709;34561969;35132862;35154160;35254053;35318648;35561310;35580925;36010968;36241641;36284347;37938771;38253038;39531497;40596516", "class_list": "", "function": "Differential mRNA display shows increased levels of CDV3 in mice with cardiac hypertrophy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 10, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 10, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 10, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 19, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "B3KUC2;Q96IP9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9UKY7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5U2-1", "uniprot_id": [ { "id": "TSSC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5U2", "type": "external" } ], "mass": 34326.0, "length": 329, "protein_name": "U5 small nuclear ribonucleoprotein TSSC4", "gene_name": "TSSC4", "organism": "Human", "refseq_name": "U5 small nuclear ribonucleoprotein TSSC4 isoform a", "refseq_ac": [ { "id": "NP_001284587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284587", "type": "external" } ], "gene_names_uniprotkb": "TSSC4", "gene_names_refseq": "TSSC4", "protein_names_uniprotkb": "U5 small nuclear ribonucleoprotein TSSC4; Tumor-suppressing STF cDNA 4 protein; Tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein", "protein_names_refseq": "U5 small nuclear ribonucleoprotein TSSC4 isoform a; U5 small nuclear ribonucleoprotein TSSC4; protein TSSC4; tumor-suppressing STF cDNA 4 protein; tumor-suppressing subchromosomal transferable fragment candidate gene 4 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10078)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10072438;11237011;15302935;17322306;18212344;18669648;18767875;19413330;19608861;19690332;20068231;23186163;23481700;24275569;25576301;26154972;28514659;28832583;28904123;29242379;29508533;29557506;29632711;31492838;31844290;32387766;32938616;32983136;33141586;33968037;34131137;34211107;35051231;35132862;35188580;35318648;35513511;35580925;37938771;40596516", "class_list": "", "function": "Protein associated with the U5 snRNP, during its maturation and its post-splicing recycling and which is required for spliceosomal tri-snRNP complex assembly in the nucleus (PubMed:34131137, PubMed:35188580). Has a molecular sequestering activity and transiently hinders SNRNP200 binding sites for constitutive splicing factors that intervene later during the assembly of the spliceosome and splicing (PubMed:35188580). Together with its molecular sequestering activity, may also function as a molecular adapter and placeholder, coordinating the assembly of the U5 snRNP and its association with the U4/U6 di-snRNP (PubMed:34131137)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TSSC4 gene, located in the center of the 11p15 imprinted region, escapes genomic imprinting., [RefSeq, PubMed]; TSSC4 is a component of U5 snRNP that promotes tri-snRNP formation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is located among several imprinted genes; however, this gene, as well as the pan-hematopoietic expression gene (PHEMX), escapes imprinting. This gene may play a role in malignancies and disease that involve this region. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9JS66;Q86VL2;Q9BRS6", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0140313 molecular sequestering activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005681 spliceosomal complex;GO:0005682 U5 snRNP", "go_biological_process": "GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0000387 spliceosomal snRNP assembly;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9Y5U2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ52-1", "uniprot_id": [ { "id": "CHSS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ52", "type": "external" } ], "mass": 85467.0, "length": 775, "protein_name": "Chondroitin polymerizing factor, non-catalytic subunit", "gene_name": "CHPF", "organism": "Human", "refseq_name": "chondroitin sulfate synthase 2 isoform 2", "refseq_ac": [ { "id": "NP_001182660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182660", "type": "external" } ], "gene_names_uniprotkb": "CHPF; CSS2; PRO1281", "gene_names_refseq": "CHPF1; CHPF; CHSY2; CSS2", "protein_names_uniprotkb": "Chondroitin polymerizing factor, non-catalytic subunit; Chondroitin sulfate synthase 2, non-catalytic subunit", "protein_names_refseq": "N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II; N-acetylgalactosaminyltransferase 2; chondroitin glucuronyltransferase 2; chondroitin sulfate synthase 2 isoform 2; chondroitin sulfate synthase 2; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II", "tax_id": 9606, "disease": "", "pathway": " (hsa:79586); (R-HSA-2022870)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10781596;10781601;10963998;11056388;11139592;11230166;11237011;11514575;11788602;12080076;12145278;12163485;12716890;12761225;12874280;12907687;12975309;17227754;17525332;18316376;20112406;21129727;21129728;22082830;23481700;25502872;25505266;25576301;25645385;25892735;26154972;26811146;26992070;27599773;27600516;27846572;27920218;28063628;28832583;28904123;29242379;29331515;29508533;29514872;29557506;29632046;29769354;29786170;30315122;30429286;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32897882;32938616;33141586;33298915;33592498;33912179;33968037;33981976;34171305;34357683;35051231;35251023;35318648;35580925;36241641;36284347;37074911;37217939;37851364;38190270;38267731;38775031;41298522;9883891", "class_list": "glycogene;glycosyltransferase", "function": "Activation of CHPF by transcription factor NFIC promotes NLRP3 activation during the progression of colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Chondroitin polymerizing activity requires concomitant expression of a ChPF with ChSy; coexpression of the ChPF and ChSy yielded markedly augmented glycosyltransferase activities, whereas simple mixing of the two separately expressed proteins did not., [RefSeq, PubMed]; Chondroitin polymerizing factor promotes development and progression of colorectal cancer via facilitating transcription of VEGFB., [RefSeq, PubMed]; May facilitate PRKN transport into the mitochondria. In collaboration with PRKN, may enhance cell viability and protect cells from oxidative stress., [UniProtKB, PubMed]; MiR-214-3p overexpression-triggered chondroitin polymerizing factor (CHPF) inhibition modulates the ferroptosis and metabolism in colon cancer., [RefSeq, PubMed]; Non-catalytic component of CHSY1-CHPF2 and CHSY3-CHPF2 chondroitin sulfate synthase complexes. CHPF associates with catalytically active chondroitin synthases (CHSY1/3) within heterodimeric complexes. Plays an essential role for the formation of a stable and functional chondroitin sulfate polymerase complexes., [UniProtKB, PubMed, PubMed, PubMed]; The HNF4A-CHPF pathway promotes proliferation and invasion through interactions with MAD1L1 in glioma., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 998, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DXU0;Q6UXD6;Q7L4G1;Q9H0F8;Q9H618", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0050510 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity;GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;GO:0008376 acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0050650 chondroitin sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q8IZ52-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011001.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CK0-1", "uniprot_id": [ { "id": "ZN653_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CK0", "type": "external" } ], "mass": 67235.0, "length": 615, "protein_name": "Zinc finger protein 653", "gene_name": "ZNF653", "organism": "Human", "refseq_name": "zinc finger protein 653", "refseq_ac": [ { "id": "NP_620138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620138", "type": "external" } ], "gene_names_uniprotkb": "ZNF653; ZIP67", "gene_names_refseq": "E430039K05Rik; ZIP67; ZNF653", "protein_names_uniprotkb": "Zinc finger protein 653; 67 kDa zinc finger protein; Zinc finger protein Zip67", "protein_names_refseq": "67 kDa zinc finger protein; zinc finger protein 653; zinc finger protein Zip67", "tax_id": 9606, "disease": "", "pathway": " (hsa:115950)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12920234;25576301;25892735;27920218;29632046;29769354;31217245;31530632;31844290;32387766;32488085;32502341;32938616;33968037;36241641", "class_list": "", "function": "Novel zinc-finger protein that influences gene activation through interaction with the functionally important activation function-2 domain of nuclear receptors, [RefSeq, PubMed]; Transcriptional repressor. May repress NR5A1, PPARG, NR1H3, NR4A2, ESR1 and NR3C1 transcriptional activity., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96AS7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0003712 transcription coregulator activity;GO:0050682 AF-2 domain binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:1900116 extracellular negative regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96CK0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCP0-1", "uniprot_id": [ { "id": "KC1G1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCP0", "type": "external" } ], "mass": 48511.0, "length": 422, "protein_name": "Casein kinase I isoform gamma-1", "gene_name": "CSNK1G1", "organism": "Human", "refseq_name": "casein kinase I isoform gamma-1 isoform 1", "refseq_ac": [ { "id": "NP_001316535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316535", "type": "external" } ], "gene_names_uniprotkb": "CSNK1G1", "gene_names_refseq": "CK1gamma1; CSNK1G1", "protein_names_uniprotkb": "Casein kinase I isoform gamma-1; 2.7.11.1; CKI-gamma 1", "protein_names_refseq": "casein kinase I isoform gamma-1 isoform 1", "tax_id": 9606, "disease": "congenital adrenal hyperplasia (Disease Ontology:DOID:0050811); adrenal cortical adenoma (Disease Ontology:DOID:0050891); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); glucocorticoid-remediable aldosteronism (Disease Ontology:DOID:14080); renal tubular acidosis (Disease Ontology:DOID:14219); primary hyperaldosteronism (Disease Ontology:DOID:446); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); myocarditis (Disease Ontology:DOID:820)", "pathway": " (hsa:53944)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11124537;11237011;12119564;14759258;17344846;18691976;21680713;23783831;24442433;24463883;25502872;25576301;28228285;28467828;28514659;28832583;28834231;29242379;29331515;29393594;29557506;29632046;29786170;30315122;30484775;31844290;31848261;32157095;32350084;32983136;33912179;33968037;34357683;34561969;35051231;35154160;35251023;35580925;36010968;36284347", "class_list": "", "function": "A 1756 bp cDNA encoded human protein kinase CK1 (438 AA, mol wt 50.272 Da, isoelectric point of 9.37) mapping to chromosome 15q22., [RefSeq, PubMed]; CK1gamma1 phosphorylates p65 and consequently promotes its degradation by ubiquitin E3 ligases CUL2 and COMMD1., [RefSeq, PubMed]; Casein kinase 1 gamma 1 phosphorylates claspin, [RefSeq, PubMed]; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN., [UniProtKB, PubMed]; This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JPH1;Q96AE9;Q9HCP1", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007165 signal transduction;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9HCP0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IW7-1", "uniprot_id": [ { "id": "SC22A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IW7", "type": "external" } ], "mass": 34948.0, "length": 307, "protein_name": "Vesicle-trafficking protein SEC22a", "gene_name": "SEC22A", "organism": "Human", "refseq_name": "vesicle-trafficking protein SEC22a", "refseq_ac": [ { "id": "NP_036562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036562", "type": "external" } ], "gene_names_uniprotkb": "SEC22A; SEC22L2", "gene_names_refseq": "SEC22A; SEC22L2", "protein_names_uniprotkb": "Vesicle-trafficking protein SEC22a; SEC22 vesicle-trafficking protein homolog A; SEC22 vesicle-trafficking protein-like 2", "protein_names_refseq": "SEC22 vesicle trafficking protein homolog A; SEC22 vesicle trafficking protein-like 2; vesicle-trafficking protein SEC22a", "tax_id": 9606, "disease": "", "pathway": " (hsa:26984); (R-HSA-204005)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;15037235;16303754;16495487;16624868;16912714;17005010;17038314;17192411;17287728;17316621;17499046;17562788;17684057;18669648;18843296;19164740;19638414;19656848;20545907;20679433;20966969;21478858;21532587;21689688;22013193;22157747;22675024;23378591;23479643;23698585;23864707;24119662;24715725;24917561;25202031;25406594;25492864;25586378;25619252;26992070;27920218;28467828;28832583;28855257;29242379;30315122;30429286;31154438;31217245;31530632;31844290;32157095;32387766;33592498;33912179;33936100;34932366;35051231;35580925;36010968;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "May be involved in vesicle transport between the ER and the Golgi complex., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The 200 kDa crystal structure of Sec22 bound to Sec23/24 reveals that the transport signal is a folded epitope rather than a conventional short peptide sequence., [RefSeq, PubMed]; The protein encoded by this gene belongs to the member of the SEC22 family of vesicle trafficking proteins. This protein has similarity to rat SEC22 and may act in the early stages of the secretory pathway. [provided by RefSeq, Nov 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RE26;Q9Y682", "ec_number_list": [], "go_molecular_function": "GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0005794 Golgi apparatus;GO:0042470 melanosome;GO:0005737 cytoplasm", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q96IW7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ29-1", "uniprot_id": [ { "id": "LUC7L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ29", "type": "external" } ], "mass": 43728.0, "length": 371, "protein_name": "Putative RNA-binding protein Luc7-like 1", "gene_name": "LUC7L", "organism": "Human", "refseq_name": "putative RNA-binding protein Luc7-like 1 isoform a", "refseq_ac": [ { "id": "NP_001307155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307155", "type": "external" } ], "gene_names_uniprotkb": "LUC7L; LUC7L1", "gene_names_refseq": "LUC7B1; LUC7L; Luc7; SR+89; hLuc7B1", "protein_names_uniprotkb": "Putative RNA-binding protein Luc7-like 1; Putative SR protein LUC7B1; SR+89", "protein_names_refseq": "putative RNA-binding protein Luc7-like 1 isoform a; putative RNA-binding protein Luc7-like 1; putative SR protein LUC7B1; sarcoplasmic reticulum protein LUC7B1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55692)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11170747;11237011;17081983;18669648;19415658;19690332;20068231;21406692;23186163;26992070;27600516;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29557506;29632046;31844290;32157095;32387766;33141586;33214551;33852859;33968037;33981976;34019948;34229054;34509645;37217939;37938771", "class_list": "", "function": "Functional analyses of human LUC7-like proteins involved in splicing regulation and myeloid neoplasms., [RefSeq, PubMed]; May bind to RNA via its Arg/Ser-rich domain., [UniProtKB, PubMed]; The LUC7L gene may represent a mammalian heterochromatic gene, encoding a putative RNA-binding protein similar to the yeast Luc7p subunit of the U1 snRNP splicing complex that is normally required for 5-prime splice site selection (Tufarelli et al., 2001 [PubMed 11170747]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B8ZZ13;Q96S32;Q9NPH4", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0042802 identical protein binding;GO:0050733 RS domain binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0071004 U2-type prespliceosome", "go_biological_process": "GO:0006376 mRNA splice site recognition", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9NQ29-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99653-1", "uniprot_id": [ { "id": "CHP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99653", "type": "external" } ], "mass": 22456.0, "length": 195, "protein_name": "Calcineurin B homologous protein 1", "gene_name": "CHP1", "organism": "Human", "refseq_name": "calcineurin B homologous protein 1", "refseq_ac": [ { "id": "NP_009167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009167", "type": "external" } ], "gene_names_uniprotkb": "CHP1; CHP", "gene_names_refseq": "CHP1; CHP; SLC9A1BP; SPAX9; Sid470p; p22; p24", "protein_names_uniprotkb": "Calcineurin B homologous protein 1; Calcineurin B-like protein; Calcium-binding protein CHP; Calcium-binding protein p22; EF-hand calcium-binding domain-containing protein p22", "protein_names_refseq": "EF-hand calcium-binding domain-containing protein p22; SLC9A1 binding protein; calcineurin B homologous protein 1; calcineurin B homolog; calcineurin B-like protein; calcineurin homologous protein; calcium binding protein P22; calcium-binding protein CHP; calcium-binding protein p22", "tax_id": 9606, "disease": "spastic ataxia (Disease Ontology:DOID:0050952); spastic ataxia 9, autosomal recessive (MONDO:MONDO:0032753)", "pathway": " (hsa:11261); (R-HSA-2160916)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10593895;11237011;11350981;11568288;14514708;15035633;15090545;15503855;15510212;16104017;17050540;20720019;23481700;23509262;24366607;25255805;25576301;25645385;26154972;26811146;26992070;27543614;27862975;27920218;28218747;28649982;28832583;28834231;28904123;29242379;29314611;29379881;29437277;29508533;29557506;2971395;29786170;29789417;30379171;30410026;30429286;30784271;30833945;31154438;31217245;31844290;31848261;32157095;32350084;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33968037;34087483;34108458;34171305;34357683;34561969;3468507;34932366;35051231;35251023;35580925;35613257;36241641;36284347;38360885;8282124;8901634;9712871", "class_list": "", "function": "Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane-type Na(+)/H(+) exchange activity. Affects the pH sensitivity of SLC9A1/NHE1 by increasing its sensitivity at acidic pH. Required for the stabilization and localization of SLC9A1/NHE1 at the plasma membrane. Inhibits serum- and GTPase-stimulated Na(+)/H(+) exchange. Plays a role as an inhibitor of ribosomal RNA transcription by repressing the nucleolar UBF1 transcriptional activity. May sequester UBF1 in the nucleoplasm and limit its translocation to the nucleolus. Associates to the ribosomal gene promoter. Acts as a negative regulator of the calcineurin/NFAT signaling pathway. Inhibits NFAT nuclear translocation and transcriptional activity by suppressing the calcium-dependent calcineurin phosphatase activity. Also negatively regulates the kinase activity of the apoptosis-induced kinase STK17B. Inhibits both STK17B auto- and substrate-phosphorylations in a calcium-dependent manner., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Chp1 is a dedicated chaperone at the ribosome that safeguards eEF1A biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6H9;Q6FHZ9", "ec_number_list": [], "go_molecular_function": "GO:0015385 sodium:proton antiporter activity;GO:0008017 microtubule binding;GO:0048306 calcium-dependent protein binding;GO:0015459 potassium channel regulator activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0001933 negative regulation of protein phosphorylation;GO:0006469 negative regulation of protein kinase activity;GO:0061024 membrane organization;GO:0050821 protein stabilization;GO:0006883 intracellular sodium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q99653-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUK0-1", "uniprot_id": [ { "id": "CHCH7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUK0", "type": "external" } ], "mass": 10095.0, "length": 85, "protein_name": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 7", "gene_name": "CHCHD7", "organism": "Human", "refseq_name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform a", "refseq_ac": [ { "id": "NP_001011667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667", "type": "external" } ], "gene_names_uniprotkb": "CHCHD7", "gene_names_refseq": "CHCHD7; COX23", "protein_names_uniprotkb": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 7", "protein_names_refseq": "COX23 cytochrome c oxidase assembly homolog; coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform a; coiled-coil-helix-coiled-coil-helix domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:79145); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16736500;16849325;17510655;18174896;18678864;19266077;19409522;19453276;19767391;19962426;20546612;20593814;20877624;21750375;22842048;23041349;23597483;23811401;25315652;25418920;26697887;26992070;27920218;28218747;28832583;29242379;29393594;29437277;29493099;29632046;30315122;31154438;31844290;32488085;33298915;33592498;33912179;35580925;39894887", "class_list": "", "function": "CHCHD7 is a newly identified member of a ubiquitously expressed multifamily of proteins containing a conserved (coiled coil 1)-(helix 1)-(coiled coil 2)-(helix 2) domain; it has not been previously associated with neoplasia., [RefSeq, PubMed]; Molecular interactions guiding the protein recognition between Mia40 and the disulfide-reduced CHCHD5 and CHCHD7., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K223;E9PBH3;J3KNE9;Q7Z588", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0033108 mitochondrial respiratory chain complex assembly", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9BUK0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JB5-1", "uniprot_id": [ { "id": "CK5P3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JB5", "type": "external" } ], "mass": 56921.0, "length": 506, "protein_name": "CDK5 regulatory subunit-associated protein 3", "gene_name": "CDK5RAP3", "organism": "Human", "refseq_name": "CDK5 regulatory subunit-associated protein 3 isoform c", "refseq_ac": [ { "id": "NP_001265126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265126", "type": "external" } ], "gene_names_uniprotkb": "CDK5RAP3; IC53; LZAP; MSTP016; PP1553; SW-cl.114", "gene_names_refseq": "C53; CDK5RAP3; HSF-27; IC53; LZAP; MST016; OK/SW-cl.114; PP1553", "protein_names_uniprotkb": "CDK5 regulatory subunit-associated protein 3; CDK5 activator-binding protein C53; LXXLL/leucine-zipper-containing ARF-binding protein; Protein HSF-27", "protein_names_refseq": "CDK5 regulatory subunit associated protein IC53-2; CDK5 regulatory subunit-associated protein 3 isoform c; LXXLL/leucine-zipper-containing ARF-binding protein; LXXLL/leucine-zipper-containing ARFbinding protein; ischemic heart CDK5 activator-binding protein C53", "tax_id": 9606, "disease": "early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709)", "pathway": " (hsa:80279)", "pathway_count": 1, "publication_count": 105, "publication_id_list": "10721722;11237011;12054757;12737517;15790566;16173922;17785205;19223857;20068231;20164180;20228063;21283629;21465471;21971960;22424782;22706990;23152784;23478299;23481700;24029068;24714562;24715725;25418920;25505266;25576301;25645385;25772364;25810538;25880248;26154972;26375851;26728094;26768311;26992070;27600516;27846572;27920218;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30573663;30635284;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32851973;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34185709;34211107;34357683;34509645;34932366;35051231;35154160;35318648;35580925;36010968;36121123;36284347;36543799;36762703;37595036;38383785;38383789;38636893;38725860;40914422", "class_list": "", "function": "(Microbial infection) May be negatively regulated by hepatitis B virus large envelope protein mutant pre-s2 to promote mitotic entry., [UniProtKB, PubMed]; CDK5RAP3 is a novel super-enhancer-driven gene activated by master TFs and regulates ER-Phagy in neuroblastoma., [RefSeq, PubMed]; IC53 is a novel gene, mainly expressed in vascular endothelial cells and mediates cell proliferation, [RefSeq, PubMed]; Substrate adapter of E3 ligase complexes mediating ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to substrate proteins, and which is involved in various processes, such as ribosome recycling and reticulophagy (also called ER-phagy) (PubMed:23152784, PubMed:30635284, PubMed:32851973, PubMed:36121123, PubMed:36543799, PubMed:37595036, PubMed:38383785, PubMed:38383789). As part of the UREL complex, plays a key role in ribosome recycling by promoting mono-ufmylation of RPL26/uL24 subunit of the 60S ribosome (PubMed:38383785, PubMed:38383789). Ufmylation of RPL26/uL24 occurs on free 60S ribosomes following ribosome dissociation: it weakens the junction between post-termination 60S subunits and SEC61 translocons, promoting release and recycling of the large ribosomal subunit from the endoplasmic reticulum membrane (PubMed:38383785, PubMed:38383789). Ufmylation of RPL26/uL24 and subsequent 60S ribosome recycling either take place after normal termination of translation or after ribosome stalling during cotranslational translocation at the endoplasmic reticulum (PubMed:32851973, PubMed:37595036, PubMed:38383785, PubMed:38383789). Within the UREL complex, CDK5RAP3 acts as a substrate adapter that constrains UFL1 ligase activity to mono-ufmylate RPL26/uL24 at 'Lys-134' (PubMed:36121123, PubMed:38383785, PubMed:38383789). The UREL complex is also involved in reticulophagy in response to endoplasmic reticulum stress by promoting ufmylation of proteins such as CYB5R3, thereby promoting lysosomal degradation of ufmylated proteins (PubMed:36543799). Also acts as a regulator of transcription: negatively regulates NF-kappa-B-mediated gene transcription through the control of RELA phosphorylation (PubMed:17785205, PubMed:20228063). Also regulates mitotic G2/M transition checkpoint and mitotic G2 DNA damage checkpoint (PubMed:15790566, PubMed:19223857). Through its interaction with CDKN2A/ARF and MDM2 may induce MDM2-dependent p53/TP53 ubiquitination, stabilization and activation in the nucleus, thereby promoting G1 cell cycle arrest and inhibition of cell proliferation (PubMed:16173922). May also play a role in the rupture of the nuclear envelope during apoptosis (PubMed:23478299). May regulate MAPK14 activity by regulating its dephosphorylation by PPM1D/WIP1 (PubMed:21283629). Required for liver development (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TSPAN6 reinforces the malignant progression of glioblastoma via interacting with CDK5RAP3 and regulating STAT3 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6N4;D3DTU1;D3DTU2;F5H3I5;Q53FA2;Q9H3F8;Q9H8G0;Q9HBR9", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0051019 mitogen-activated protein kinase binding;GO:0051059 NF-kappaB binding;GO:0097371 MDM2/MDM4 family protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0060318 definitive erythrocyte differentiation;GO:0001889 liver development;GO:0008283 cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q96JB5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96F83-1", "uniprot_id": [ { "id": "CLBA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96F83", "type": "external" } ], "mass": 35690.0, "length": 325, "protein_name": "Uncharacterized protein CLBA1", "gene_name": "CLBA1", "organism": "Human", "refseq_name": "uncharacterized protein CLBA1 isoform 1", "refseq_ac": [ { "id": "NP_777551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777551", "type": "external" } ], "gene_names_uniprotkb": "CLBA1; C14orf79", "gene_names_refseq": "C14orf79; CLBA1", "protein_names_uniprotkb": "Uncharacterized protein CLBA1; Clathrin-binding box of aftiphilin-containing protein 1", "protein_names_refseq": "clathrin-binding box of aftiphilin-containing protein 1; uncharacterized protein C14orf79; uncharacterized protein CLBA1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:122616)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;27862975;30833945;31844290;32387766;32938616;34171305;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RPK9;Q9BTP4", "ec_number_list": [], "go_molecular_function": "GO:0030276 clathrin binding", "go_cellular_component": "GO:0032588 trans-Golgi network membrane;GO:0030121 AP-1 adaptor complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96F83-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDM7-1", "uniprot_id": [ { "id": "CFA43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDM7", "type": "external" } ], "mass": 191984.0, "length": 1665, "protein_name": "Cilia- and flagella-associated protein 43", "gene_name": "CFAP43", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 43", "refseq_ac": [ { "id": "NP_079421", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079421", "type": "external" } ], "gene_names_uniprotkb": "CFAP43; C10orf79; WDR96", "gene_names_refseq": "C10orf79; CFAP43; HYDNP1; SPGF19; WDR96; bA373N18.2", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 43; WD repeat-containing protein 96", "protein_names_refseq": "WD repeat domain 96; WD repeat-containing protein 96; WD repeat-containing protein C10orf79; cilia- and flagella-associated protein 43", "tax_id": 9606, "disease": "spermatogenic failure 19 (Disease Ontology:DOID:0070170); normal pressure hydrocephalus 1 (Disease Ontology:DOID:0070687); normal pressure hydrocephalus (Disease Ontology:DOID:1572)", "pathway": " (hsa:80217)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11230166;11237011;16385451;19664994;19913121;24715725;25676728;28552195;29277146;29449551;29557506;31004071;31844290;32207550;32488085;34100391;34105348;39894887", "class_list": "", "function": "A loss of function mutation was identified in a family with normal-pressure hydrocephalus., [RefSeq, PubMed]; Biallelic mutations in either CFAP43 or CFAP44 can cause sperm flagellar abnormalities and impair sperm motility., [RefSeq, PubMed]; Flagellar protein involved in sperm flagellum axoneme organization and function (By similarity). Involved in the regulation of the beating frequency of motile cilia on the epithelial cells of the respiratory tract (By similarity)., [UniProtKB, UniProtKB]; Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella., [RefSeq, PubMed]; Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Study demonstrated that biallelic mutations in CFAP44 and CFAP43 cause multiple morphological abnormalities of the sperm flagella (MMAF). These results provide researchers with a new insight to understand the genetic etiology of MMAF and to identify new loci for genetic counselling of MMAF., [RefSeq, PubMed]; This gene encodes a member of the cilia- and flagella-associated protein family. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8N9Z8;Q8NE17;Q9H085;Q9H5W3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005930 axoneme;GO:0097729 9+2 motile cilium;GO:0005856 cytoskeleton;GO:0005929 cilium", "go_biological_process": "GO:0003356 regulation of cilium beat frequency;GO:0007288 sperm axoneme assembly;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8NDM7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92674-1", "uniprot_id": [ { "id": "CENPI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92674", "type": "external" } ], "mass": 86720.0, "length": 756, "protein_name": "Centromere protein I", "gene_name": "CENPI", "organism": "Human", "refseq_name": "centromere protein I isoform 3", "refseq_ac": [ { "id": "NP_001305452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305452", "type": "external" } ], "gene_names_uniprotkb": "CENPI; FSHPRH1; ICEN19; LRPR1", "gene_names_refseq": "CENP-I; CENPI; FSHPRH1; LRPR1", "protein_names_uniprotkb": "Centromere protein I; CENP-I; FSH primary response protein 1; Follicle-stimulating hormone primary response protein; Interphase centromere complex protein 19; Leucine-rich primary response protein 1", "protein_names_refseq": "FSH primary response 1; centromere protein I isoform 3; follicle-stimulating hormone primary response protein; interphase centromere complex protein 19; leucine-rich primary response protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:2491); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-606279); (R-HSA-68877); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 142, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12640463;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15369671;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16716197;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;17199038;17339379;1737036;18001770;18097444;18491316;18716626;18923426;19007248;19350017;19398759;19410544;19410545;19413330;19691289;19696148;19815554;19965387;20030946;20068231;20080577;20101212;20212317;20566683;20591975;21111234;21148482;21397845;21576392;21768289;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23222643;23801653;24714562;24914801;25576301;25740311;25789526;25892735;26375851;26992070;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29632046;29769354;30315122;30379171;30410026;30833945;31409757;31530632;31844290;32157095;32161166;32350084;32357974;32488085;32502341;32938616;33298915;33592498;33630763;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34260926;34617858;35051231;35580925;36010968;36241641;36581221;38232915;8921378;9649308;9649503;9892021", "class_list": "", "function": "Centromere Protein I (CENP-I) Is Upregulated in Gastric Cancer, Predicts Poor Prognosis, and Promotes Tumor Cell Proliferation and Migration., [RefSeq, PubMed]; Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Required for the localization of CENPF, MAD1L1 and MAD2 (MAD2L1 or MAD2L2) to kinetochores. Involved in the response of gonadal tissues to follicle-stimulating hormone., [UniProtKB, PubMed, PubMed]; Immune infiltration related CENPI associates with the malignant features and drug resistance of lung adenocarcinoma., [RefSeq, PubMed]; This gene encodes a centromere protein that is a component of the CENPA-NAC (nucleosome-associated) complex. This complex is critical for accurate chromosome alignment and segregation and it ensures proper mitotic progression. This protein regulates the recruitment of kinetochore-associated proteins that are required to generate the spindle checkpoint signal. The product of this gene is involved in the response of gonadal tissues to follicle-stimulating hormone. Mutations in this gene may be involved in human X-linked disorders of gonadal development and gametogenesis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 13. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JWZ9;Q96ED0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000939 inner kinetochore;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0007059 chromosome segregation;GO:0007548 sex differentiation;GO:0034080 CENP-A containing chromatin assembly;GO:0000070 mitotic sister chromatid segregation", "synthesized_glycan_count": 0, "hit_score": 14.5, "record_id": "Q92674-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XR8-1", "uniprot_id": [ { "id": "CEP57_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XR8", "type": "external" } ], "mass": 57089.0, "length": 500, "protein_name": "Centrosomal protein of 57 kDa", "gene_name": "CEP57", "organism": "Human", "refseq_name": "centrosomal protein of 57 kDa isoform b", "refseq_ac": [ { "id": "NP_001230705", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230705", "type": "external" } ], "gene_names_uniprotkb": "CEP57; KIAA0092; TSP57", "gene_names_refseq": "CEP57; MVA2; PIG8; TSP57", "protein_names_uniprotkb": "Centrosomal protein of 57 kDa; Cep57; FGF2-interacting protein; Testis-specific protein 57; Translokin", "protein_names_refseq": "FGF2-interacting protein; centrosomal protein 57kDa; centrosomal protein of 57 kDa isoform b; proliferation-inducing protein 8; testis-specific protein 57; translokin", "tax_id": 9606, "disease": "mosaic variegated aneuploidy syndrome 2 (Disease Ontology:DOID:0080142)", "pathway": " (hsa:9702); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 151, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12717444;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19007248;19081074;19691289;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21422230;21548880;21552266;21565611;21620453;21725307;21792235;22094468;22179047;22321063;22365832;22433857;22641346;22653444;23141531;23141541;23186163;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24714562;24715725;24982133;25047611;25313408;25532896;25576301;25645385;25892735;26154972;26728094;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30524438;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32387766;32488085;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33402344;33537174;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34405274;34500087;34509645;34561969;34932366;35051231;35254053;35318648;35580925;36010968;36215666;36241641;36284347;36581221;36635612;37217939;38857398;7769006;7790358;8838651", "class_list": "", "function": "Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring-like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2, but that of FGF1., [UniProtKB, PubMed]; Cep57 regulates human centrosomes through multivalent interactions., [RefSeq, PubMed]; Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. Review article, [RefSeq, PubMed]; Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum., [RefSeq, PubMed]; This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0PJH1;A8K5D0;B4DDP5;F5H5F7;Q14704;Q5JB46;Q8IXP0;Q9BVF9", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042803 protein homodimerization activity;GO:0017134 fibroblast growth factor binding;GO:0043015 gamma-tubulin binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0051260 protein homooligomerization;GO:0007286 spermatid development;GO:0008543 fibroblast growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 15.6, "record_id": "Q86XR8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ66-1", "uniprot_id": [ { "id": "PLCB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ66", "type": "external" } ], "mass": 138567.0, "length": 1216, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1", "gene_name": "PLCB1", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform a", "refseq_ac": [ { "id": "NP_056007", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056007", "type": "external" } ], "gene_names_uniprotkb": "PLCB1; KIAA0581", "gene_names_refseq": "DEE12; EIEE12; PI-PLC; PLC-154; PLC-I; PLC-beta-1; PLC154; PLCB1A; PLCB1B; PLCB1", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1; 3.1.4.11; PLC-154; PLC-I; PLC-beta-1; Phosphoinositide phospholipase C-beta-1; Phospholipase C-I; Phospholipase C-beta-1", "protein_names_refseq": "1-phosphatidyl-D-myo-inositol-4,5-bisphosphate; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform a; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1; inositoltrisphosphohydrolase; monophosphatidylinositol phosphodiesterase; phosphoinositidase C; phosphoinositide phospholipase C; phospholipase C, beta 1 (phosphoinositide-specific); phospholipase C-I; triphosphoinositide phosphodiesterase", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); developmental and epileptic encephalopathy 12 (Disease Ontology:DOID:0080459); Alzheimer's disease (Disease Ontology:DOID:10652); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); acute myeloid leukemia (Disease Ontology:DOID:9119); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:23236); (R-HSA-112043); (R-HSA-1855204); (R-HSA-399997); (R-HSA-4086398); (R-HSA-416476); (R-HSA-418217); (R-HSA-434316); (R-HSA-500657)", "pathway_count": 9, "publication_count": 177, "publication_id_list": "10191087;10380924;10391246;10391247;10395542;10488343;10567430;10588714;10593988;10727532;10760467;10777564;10858654;10861009;10866302;11015615;11022047;11022048;11030334;11042108;11118617;11237011;11278470;11287604;11563835;11588141;11742120;11753430;11909533;12015605;12086864;12120503;12194018;12223481;12471263;12482967;12496284;12556497;12565875;12629551;12729560;12747803;12799190;12975316;1322796;1333955;14704854;14977528;15037625;15140260;1527003;15316017;15448129;15474001;15494017;15545263;15579586;15611108;15702972;15790568;15914509;15951850;16081037;16107206;16182515;16242307;16268778;16289108;16339447;1644792;16753580;16754659;16871065;16880514;16920709;16923326;16959974;17081983;17095603;17101212;17130640;1718960;17395749;17426020;17684012;17900700;17919190;17924679;17962409;18383439;18434541;18456304;1846707;18488142;18515384;18577758;18578522;18606873;18827341;18936096;1905813;19177143;19179337;19212142;19342380;19398560;19401434;19536106;19758793;19851316;20007474;20833646;21118996;21338571;21903638;22941947;23151663;23256519;23416699;23632248;23904219;24130766;24715725;2550068;25576301;25645385;25880248;26590425;27543614;2841328;29393594;29557506;29769354;30379171;30779550;3086311;31154438;31844290;31848261;31937595;32157095;32938616;33141586;33592498;33912179;33968037;34211107;35051231;35318648;35580925;36517806;37208557;38387756;38778543;7721860;7761412;7890667;7937899;7989336;8132675;8190105;8407970;8454637;8530101;8662638;8664309;8723348;8769125;9073455;9188725;9305846;9360711;9389482;9430698;9593664;9770463;9808756", "class_list": "", "function": "Catalyzes the hydrolysis of 1-phosphatidylinositol 4,5-bisphosphate into diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) and mediates intracellular signaling downstream of G protein-coupled receptors (PubMed:9188725). Regulates the function of the endothelial barrier., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; Conformational alteration in glycan induces phospholipase Cbeta1 activation and angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Lnc-PLCB1 is stabilized by METTL14 induced m6A modification and inhibits Helicobacter pylori mediated gastric cancer by destabilizing DDX21., [RefSeq, PubMed]; LncRNA AC100826.1 regulated PLCB1 to promote progression in non-small cell lung cancer., [RefSeq, PubMed]; PLCB1 Enhances Cell Migration and Invasion in Gastric Cancer Via Regulating Actin Cytoskeletal Remodeling and Epithelial-Mesenchymal Transition., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DW12;D3DW13;O60325;Q17RQ6;Q5TFF7;Q5TGC9;Q8IV93;Q9BQW2;Q9H4H2;Q9H8H5;Q9NQ65;Q9NQH9;Q9NTH4;Q9UJP6;Q9UM26", "ec_number_list": [ { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" } ], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0005096 GTPase activator activity;GO:0005516 calmodulin binding;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0019899 enzyme binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:2000344 positive regulation of acrosome reaction;GO:0070498 interleukin-1-mediated signaling pathway;GO:0060466 activation of meiosis involved in egg activation;GO:2000438 negative regulation of monocyte extravasation;GO:1903140 regulation of establishment of endothelial barrier", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q9NQ66-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KN1-1", "uniprot_id": [ { "id": "LRAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KN1", "type": "external" } ], "mass": 34474.0, "length": 310, "protein_name": "Protein LRATD2", "gene_name": "LRATD2", "organism": "Human", "refseq_name": "protein LRATD2", "refseq_ac": [ { "id": "NP_777571", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_777571", "type": "external" } ], "gene_names_uniprotkb": "LRATD2; BCMP101; FAM84B; NSE2", "gene_names_refseq": "BCMP101; FAM84B; LRATD2; NSE2", "protein_names_uniprotkb": "Protein LRATD2; Breast cancer membrane protein 101; LRAT domain-containing 2; Protein FAM84B; Protein NSE2", "protein_names_refseq": "breast cancer membrane protein 101; breast cancer membrane-associated protein 101; family with sequence similarity 84 member B; neurological/sensory 2; protein FAM84B; protein LRATD2", "tax_id": 9606, "disease": "", "pathway": " (hsa:157638)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "16490593;18669648;19413330;25576301;26992070;27600516;28832583;29242379;29393594;29557506;29786170;30429286;31844290;32387766;32558489;32983136;33592498;33759248;34171305;35051231;35318648;35580925;36284347;36419094;37651838", "class_list": "", "function": "FAM84B acts as a tumor promoter in human glioma via affecting the Akt/GSK-3beta/beta-catenin pathway., [RefSeq, PubMed]; FAM84B promotes breast cancer tumorigenesis through activation of the NF-kappaB and death receptor signaling pathways., [RefSeq, PubMed]; FAM84B promotes the proliferation of glioma cells through the cell cycle pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Hub Genes in Gastric Cancer with High Heterogeneity Based on Weighted Gene Co-Expression Network., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q96KN1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBB8-1", "uniprot_id": [ { "id": "CDHR5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBB8", "type": "external" } ], "mass": 88223.0, "length": 845, "protein_name": "Cadherin-related family member 5", "gene_name": "CDHR5", "organism": "Human", "refseq_name": "cadherin-related family member 5 isoform 4 precursor", "refseq_ac": [ { "id": "NP_001165439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165439", "type": "external" } ], "gene_names_uniprotkb": "CDHR5; MUCDHL; MUPCDH; PRO7168", "gene_names_refseq": "CDHR5; MLPCDH; MU-PCDH; MUCDHL; MUPCDH", "protein_names_uniprotkb": "Cadherin-related family member 5; MLPCDH; Mu-protocadherin; Mucin and cadherin-like protein; Mucin-like protocadherin", "protein_names_refseq": "cadherin-related family member 5 isoform 4 precursor; differentiation-associated catenin regulator; mu-protocadherin; mucin and cadherin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:53841)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11031102;11237011;12167596;12589428;12975309;16335952;19007248;20166139;23090970;24275569;24725409;26812018;26992070;27862975;29391424;29557506;29789417;30459171;31154438;32209652;32938616;33025744;33188295;33392160;34871294;35051231;35580925;37074911;39531497", "class_list": "", "function": "Heterophilic and homophilic cadherin interactions in intestinal intermicrovillar links are species dependent. Publication Status: Online-Only, [RefSeq, PubMed]; Identifed the human mu-protocadherin ortholog and examined its expression in the developing kidney, [RefSeq, PubMed]; Intermicrovillar adhesion molecule that forms, via its extracellular domain, calcium-dependent heterophilic complexes with CDHR2 on adjacent microvilli. Thereby, controls the packing of microvilli at the apical membrane of epithelial cells. Through its cytoplasmic domain, interacts with microvillus cytoplasmic proteins to form the intermicrovillar adhesion complex/IMAC. This complex plays a central role in microvilli and epithelial brush border differentiation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; MUCDHL genes are biallelically expressed in multiple fetal and adult tissues both in humans and in mice, [RefSeq, PubMed]; The atypical cadherin MUCDHL antagonizes colon cancer formation and inhibits oncogenic signaling through multiple mechanisms., [RefSeq, PubMed]; This gene is a novel mucin-like gene that is a member of the cadherin superfamily. While encoding nonpolymorphic tandem repeats rich in proline, serine and threonine similar to mucin proteins, the gene also contains sequence encoding calcium-binding motifs found in all cadherins. The role of the hybrid extracellular region and the specific function of this protein have not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2010]., [RefSeq]; Up-regulation of CDHR5 expression promotes malignant phenotype of pancreatic ductal adenocarcinoma., [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 3, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 56, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "C9J7X1;Q9H746;Q9HAU3;Q9HBB5;Q9HBB6;Q9HBB7;Q9NX86;Q9NXI9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding;GO:0008013 beta-catenin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005905 clathrin-coated pit;GO:0045202 synapse;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0030154 cell differentiation;GO:0098609 cell-cell adhesion;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:1904970 brush border assembly", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q9HBB8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBB5-1", "uniprot_id": [ { "id": "KLDC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBB5", "type": "external" } ], "mass": 57892.0, "length": 520, "protein_name": "Kelch domain-containing protein 4", "gene_name": "KLHDC4", "organism": "Human", "refseq_name": "kelch domain-containing protein 4 isoform 3", "refseq_ac": [ { "id": "NP_001171783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171783", "type": "external" } ], "gene_names_uniprotkb": "KLHDC4", "gene_names_refseq": "KLHDC4", "protein_names_uniprotkb": "Kelch domain-containing protein 4", "protein_names_refseq": "kelch domain-containing protein 4 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:54758)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;15302935;17081983;17322306;18220336;18452278;18669648;18767875;19413330;19415658;19651622;19664994;21406692;23186163;25892735;26154972;26811146;26992070;27030985;27846572;27920218;28510447;28904123;29437277;29493099;29769354;30379171;30410026;31217245;31844290;32357974;32387766;32938616;33392160;33717175;33912179;33968037;33981976;35580925;37938771", "class_list": "", "function": "KLHDC4 promotes NPC oncogenesis by suppressing cellular apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "D3DUN3;D3DUN4;D3DUN5;Q96F29;Q9BVN3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8TBB5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y248-1", "uniprot_id": [ { "id": "PSF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y248", "type": "external" } ], "mass": 21428.0, "length": 185, "protein_name": "DNA replication complex GINS protein PSF2", "gene_name": "GINS2", "organism": "Human", "refseq_name": "DNA replication complex GINS protein PSF2", "refseq_ac": [ { "id": "NP_057179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057179", "type": "external" } ], "gene_names_uniprotkb": "GINS2; CGI-122; DC5; HSPC037; PSF2", "gene_names_refseq": "GINS2; HSPC037; PSF2; Pfs2", "protein_names_uniprotkb": "DNA replication complex GINS protein PSF2; GINS complex subunit 2", "protein_names_refseq": "DNA replication complex GINS protein PSF2; GINS complex subunit 2 (Psf2 homolog)", "tax_id": 9606, "disease": "", "pathway": " (hsa:51659); (R-HSA-176974)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11237011;17417653;17525332;17545466;17557111;17652513;18077418;18669648;19413330;19651622;19690332;20068231;21406692;23186163;23481700;24366607;24397554;25418920;25892735;26154972;26811146;26929215;26992070;27600516;27846572;27893789;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29508533;29769354;30315122;30524438;30833945;31154438;31530632;31844290;32161166;32357974;32453425;32502341;32938616;32983136;33298915;33717175;33912179;33936100;33968037;34171305;34353863;34629365;34694004;34700328;34932366;35051231;35137928;35580925;35585232;35896011;36241641;36581221;38517779;39894887", "class_list": "", "function": "Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis., [RefSeq, PubMed]; Combined analysis of expression, prognosis and immune infiltration of GINS family genes in human sarcoma., [RefSeq, PubMed]; GINS Complex Subunit 2 Facilitates Gastric Adenocarcinoma Proliferation and Indicates Poor Prognosis., [RefSeq, PubMed]; GINS2 promotes the progression of human HNSCC by altering RRM2 expression., [RefSeq, PubMed]; GINS2 regulates the proliferation and apoptosis of colon cancer cells through PTP4A1., [RefSeq, PubMed]; Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks (PubMed:17417653). GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built (PubMed:32453425, PubMed:34694004, PubMed:34700328, PubMed:35585232)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1 (GINS1; MIM 610608), Psf2, and Psf3 (GINS3; MIM 610610). The formation of this complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DUM5;Q6IAG9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000811 GINS complex;GO:0071162 CMG complex;GO:0000228 nuclear chromosome", "go_biological_process": "GO:0006260 DNA replication;GO:0000727 double-strand break repair via break-induced replication", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9Y248-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AT1-1", "uniprot_id": [ { "id": "K1143_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AT1", "type": "external" } ], "mass": 17465.0, "length": 154, "protein_name": "Uncharacterized protein KIAA1143", "gene_name": "KIAA1143", "organism": "Human", "refseq_name": "uncharacterized protein KIAA1143 isoform 1", "refseq_ac": [ { "id": "NP_065747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065747", "type": "external" } ], "gene_names_uniprotkb": "KIAA1143", "gene_names_refseq": "KIAA1143", "protein_names_uniprotkb": "Uncharacterized protein KIAA1143", "protein_names_refseq": "uncharacterized protein KIAA1143 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57456)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "17287340;18452278;18669648;19413330;19608861;19651622;19664995;19690332;20068231;20112406;21406692;23186163;24715725;25418920;25576301;25645385;26375851;26992070;27846572;27920218;28063628;28228285;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29786170;30315122;30429286;30484775;31217245;31844290;32157095;32265295;32387766;32938616;32983136;33912179;33936100;33968037;34171305;34357683;35051231;35580925;36010968;36241641", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K0I4;Q96HJ8;Q9ULS7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0045171 intercellular bridge", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q96AT1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JH8-4", "uniprot_id": [ { "id": "RADIL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JH8", "type": "external" } ], "mass": 117455.0, "length": 1075, "protein_name": "Ras-associating and dilute domain-containing protein", "gene_name": "RADIL", "organism": "Human", "refseq_name": "ras-associating and dilute domain-containing protein", "refseq_ac": [ { "id": "NP_060529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060529", "type": "external" } ], "gene_names_uniprotkb": "RADIL; KIAA1849", "gene_names_refseq": "RADIL; RASIP2", "protein_names_uniprotkb": "Ras-associating and dilute domain-containing protein", "protein_names_refseq": "Rap GTPase interactor; Ras association and DIL domains; ras-associating and dilute domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:55698)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11230166;17704304;20048162;23097489;23186163;23209302;24715725;25645385;26992070;28228285;29242379;31154438;32157095;32387766;33482197;33968037;34171305;34357683;34509645;35051231;36010968;36241641", "class_list": "", "function": "Downstream effector of Rap required for cell adhesion and migration of neural crest precursors during development., [UniProtKB, PubMed]; Gbetagamma subunits enter in a protein complex with activated Rap1a and its effector Radil; this complex is required downstream of receptor stimulation for the activation of integrins and the positive modulation of cell-matrix adhesiveness., [RefSeq, PubMed]; Identification of Radil as a Ras binding partner and putative activator., [RefSeq, PubMed]; Studies indicate that Radil regulates neutrophil adhesion and motility by linking Rap1 to beta2-integrin activation. +++ ERROR +++ studies establish that Radil regulates neutrophil adhesion and motility by linking Rap1 to beta2-integrin activation., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D1Z5;A5YM49;B7ZL20;Q0VFZ9;Q75LH3;Q9BSP5;Q9H0M6;Q9NW43;Q9NWC4", "ec_number_list": [], "go_molecular_function": "GO:0051020 GTPase binding", "go_cellular_component": "GO:0005874 microtubule;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007165 signal transduction;GO:0001755 neural crest cell migration;GO:0034446 substrate adhesion-dependent cell spreading", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q96JH8-4", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y467-1", "uniprot_id": [ { "id": "SALL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y467", "type": "external" } ], "mass": 105399.0, "length": 1007, "protein_name": "Sal-like protein 2", "gene_name": "SALL2", "organism": "Human", "refseq_name": "sal-like protein 2 isoform b", "refseq_ac": [ { "id": "NP_001278375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278375", "type": "external" } ], "gene_names_uniprotkb": "SALL2; KIAA0360; SAL2; ZNF795", "gene_names_refseq": "COLB; HSAL2; SALL2; Sal-2; ZNF795; p150(Sal2)", "protein_names_uniprotkb": "Sal-like protein 2; Sal-2; Zinc finger protein 795; Zinc finger protein SALL2; Zinc finger protein Spalt-2; hSal2", "protein_names_refseq": "sal-like protein 2 isoform b; sal-like protein 2; zinc finger protein 795; zinc finger protein SALL2; zinc finger protein Spalt-2", "tax_id": 9606, "disease": "coloboma (Disease Ontology:DOID:12270); carcinoma (Disease Ontology:DOID:305)", "pathway": " (hsa:6297)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14507652;15082782;16545361;18655026;19690332;21406692;22661428;23301498;24412933;28430874;28832583;29228922;29242379;29508533;29783189;30620550;31188017;31637018;32157095;34019948;35132862;35138101;37541260;38838015;40307207;8975705", "class_list": "", "function": "A role for SALL2 in eye morphogenesis and loss of function of the gene causes ocular coloboma in humans and mice., [RefSeq, PubMed]; Epidermal growth factor receptor (a potential therapeutic target) and SALL2 stained most cases of synovial sarcoma; staining was significantly less common among other tested sarcomas., [RefSeq, PubMed]; Probable transcription factor that plays a role in eye development before, during, and after optic fissure closure., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results suggest that p150(Sal2), acting in part as a p53-independent regulator of p21 and BAX, can function in some cell types as a regulator of cell growth and survival [p150(Sal2)], [RefSeq, PubMed]; SALL2 methylation statistically correlated with a decrease in disease free survival in patients with oral squamous carcinoma., [RefSeq, PubMed]; Sall2 may play a significant role in NIT-1 cell function., [RefSeq, PubMed]; This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]., [RefSeq]; Understanding SALL2 function and the molecular mechanisms governing its expression and activity is critical to comprehend why and how SALL2 could contribute to disease. This knowledge will open new perspectives for the development of molecular targeted approaches in disease, [RefSeq, PubMed]; Using RNA interference, the role of Spalt-like gene-2 (SALL2) was investigated in human ovarian carcinoma (OC) A2780 cells. Found downregulation of SALL2 promoted growth of the OC cell line. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 12, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 12, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 12, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 51, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B2RMX6;B9EGK8;Q8N656;Q9Y4G1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001654 eye development;GO:0048731 system development", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9Y467-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9P2-1", "uniprot_id": [ { "id": "CHODL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9P2", "type": "external" } ], "mass": 30431.0, "length": 273, "protein_name": "Chondrolectin", "gene_name": "CHODL", "organism": "Human", "refseq_name": "chondrolectin isoform b", "refseq_ac": [ { "id": "NP_001191103", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191103", "type": "external" } ], "gene_names_uniprotkb": "CHODL; C21orf68; PRED12; PRO1890", "gene_names_refseq": "C21orf68; CHODL; MT75; PRED12", "protein_names_uniprotkb": "Chondrolectin; Transmembrane protein MT75", "protein_names_refseq": "chondrolectin isoform b; transmembrane protein MT75", "tax_id": 9606, "disease": "", "pathway": " (hsa:140578)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;11707072;12079284;12621022;12975309;17606388;22042635;28228285;31844290;32387766;34087483", "class_list": "glycogene", "function": "CHODLDeltaE/CHODLfDeltaE protein variant localizes in the late endoplasmic reticulum and is detected in spleen and tonsils; the isoform seems to be differentially expressed in thymocytes and lymphocytes., [RefSeq, PubMed]; Cloning and characterization; localized at chromosome 21q21, [RefSeq, PubMed]; May play a role in the development of the nervous system such as in neurite outgrowth and elongation. May be involved in motor axon growth and guidance., [UniProtKB, UniProtKB, UniProtKB]; Study describes the molecular characterization of novel members of the chondrolectin family associated with T cell maturation and a subcellular localization of chondrolectin f isoform in the endoplasmic reticulum-Golgi apparatus, [RefSeq, PubMed]; This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathogens. This protein localizes predominantly to the perinuclear region. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 378, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R9C0;B4DJB8;Q7Z798;Q7Z799;Q7Z7A0;Q9HCY3", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0007517 muscle organ development;GO:0050772 positive regulation of axonogenesis", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9H9P2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z692-1", "uniprot_id": [ { "id": "CEA19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z692", "type": "external" } ], "mass": 32638.0, "length": 300, "protein_name": "Cell adhesion molecule CEACAM19", "gene_name": "CEACAM19", "organism": "Human", "refseq_name": "cell adhesion molecule CEACAM19 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001121365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121365", "type": "external" } ], "gene_names_uniprotkb": "CEACAM19; CEAL1; PRO7436", "gene_names_refseq": "CEACAM19; CEACM19; CEAL1", "protein_names_uniprotkb": "Cell adhesion molecule CEACAM19; CEA cell adhesion molecule 19; Carcinoembryonic antigen-like 1; Carcinoembryonic antigen-related cell adhesion molecule 19", "protein_names_refseq": "carcinoembryonic antigen related cell adhesion molecule 19; carcinoembryonic antigen-like 1; cell adhesion molecule CEACAM19 isoform 1 precursor; cell adhesion molecule CEACAM19", "tax_id": 9606, "disease": "", "pathway": " (hsa:56971)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12801635;12975309;20634891;23525470;27909883;30217308;32659328;35051231;37074911;39894887", "class_list": "", "function": "High CEACAM19 expression is associated with gastric cancer., [RefSeq, PubMed]; Identification and expression analysis of novel splice variants of the human carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19) gene using a high-throughput sequencing approach., [RefSeq, PubMed]; In conclusion, CEACAM19 showed high expression in tumor samples compared to normal mammary tissue., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Our results suggest that CEACAM19 mRNA expression represents a promising, novel and clinically useful tissue biomarker for breast cancer management., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5XJ15;Q7Z693", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q7Z692-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAG6-1", "uniprot_id": [ { "id": "VEXIN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAG6", "type": "external" } ], "mass": 22584.0, "length": 207, "protein_name": "Vexin", "gene_name": "VXN", "organism": "Human", "refseq_name": "vexin", "refseq_ac": [ { "id": "NP_689978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689978", "type": "external" } ], "gene_names_uniprotkb": "VXN; C8orf46", "gene_names_refseq": "C8orf46; VXN", "protein_names_uniprotkb": "Vexin", "protein_names_refseq": "uncharacterized protein C8orf46; vexin", "tax_id": 9606, "disease": "", "pathway": " (hsa:254778)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;29557506;31092671;32558188;35051231", "class_list": "", "function": "Required for neurogenesis in the neural plate and retina. Strongly cooperates with neural bHLH factors to promote neurogenesis., [UniProtKB, UniProtKB]; Vexin is upregulated in cerebral cortical neurons by brain-derived neurotrophic factor., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDC3;B4DFU4;C9J814;C9JCS3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005886 plasma membrane", "go_biological_process": "GO:0030182 neuron differentiation;GO:0022008 neurogenesis", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8TAG6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X95-1", "uniprot_id": [ { "id": "CIR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X95", "type": "external" } ], "mass": 52313.0, "length": 450, "protein_name": "Corepressor of RBPJ and splicing regulator", "gene_name": "CIRSR", "organism": "Human", "refseq_name": "corepressor of RBPJ and splicing regulator", "refseq_ac": [ { "id": "NP_004873", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004873", "type": "external" } ], "gene_names_uniprotkb": "CIRSR; CIR1; CIR", "gene_names_refseq": "CIR1; CIRSR; CIR; THE1B/CIR1", "protein_names_uniprotkb": "Corepressor of RBPJ and splicing regulator; CBF1-interacting corepressor; Corepressor interacting with RBPJ 1; Recepin", "protein_names_refseq": "CBF1 (RBPJ) interacting corepressor 1; CBF1-interacting corepressor; corepressor interacting with RBPJ, 1; corepressor interacting with RBPJ, CIR1; corepressor of RBPJ and splicing regulator; recepin", "tax_id": 9606, "disease": "", "pathway": " (hsa:9541)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10644367;11222720;11237011;17081983;17322306;18452278;18669648;19409814;19664995;19690332;20058876;20873783;21406692;23186163;23481700;25576301;26992070;27587543;27600516;28514659;28832583;28834231;29242379;29557506;29786170;30315122;30379171;30429286;31217245;31222486;31530632;31844290;31848261;32157095;32387766;32488085;32502341;32938616;33392160;33592498;33912179;33968037;34509645;35051231;35318648;35580925;38253038;9874765", "class_list": "", "function": "May modulate splice site selection during alternative splicing of pre-mRNAs (By similarity). Regulates transcription and acts as corepressor for RBPJ. Recruits RBPJ to the Sin3-histone deacetylase complex (HDAC). Required for RBPJ-mediated repression of transcription., [UniProtKB, PubMed, PubMed]; Three SNPs (corepressor interacting with RBPJ 1 (CIR1) rs13009079T>C, ribonucleotide reductase M1 (RRM1) rs1465952T>C and solute carrier family 38, member 4 (SLC38A4) rs2429467C>T), may play a role in the pathogenesis of lung cancer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NFI6;A8K8M4;O95367;Q12804;Q4G1B9;Q6PJI4;Q8IWI2", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0003714 transcription corepressor activity;GO:0042826 histone deacetylase binding;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0016607 nuclear speck;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q86X95-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2E5-1", "uniprot_id": [ { "id": "CHPF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2E5", "type": "external" } ], "mass": 85948.0, "length": 772, "protein_name": "Chondroitin polymerizing factor 2, non-catalytic subunit", "gene_name": "CHPF2", "organism": "Human", "refseq_name": "chondroitin sulfate glucuronyltransferase isoform 1", "refseq_ac": [ { "id": "NP_061888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061888", "type": "external" } ], "gene_names_uniprotkb": "CHPF2; CHSY3; CSGLCAT; KIAA1402; PRO339", "gene_names_refseq": "CHPF2; CSGLCA-T; CSGlcAT; ChSy-3; chPF-2", "protein_names_uniprotkb": "Chondroitin polymerizing factor 2, non-catalytic subunit; CSGlcA-T; ChPF-2; ChSy-3; Chondroitin synthase 3, non-catalytic subunit", "protein_names_refseq": "N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase; chondroitin sulfate glucuronyltransferase isoform 1; chondroitin sulfate glucuronyltransferase; chondroitin synthase-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:54480); (R-HSA-2022870)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10781596;10781601;10963998;11056388;11139592;11237011;11514575;11788602;12080076;12145278;12163485;12761225;12874280;12907687;12975309;17227754;18316376;21129727;21129728;21468578;23481700;24190977;24714562;25418920;25469497;25576301;25645385;25892735;26154972;26992070;27599773;27600516;27846572;27920218;28063628;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29393594;29508533;29514872;29557506;29632046;29632711;29741879;29769354;29786170;29789417;30315122;30410026;31154438;31530632;31611695;31844290;31848261;32350084;32387766;32488085;33592498;34357683;35051231;36215666;36284347;37074911;37938771;38253217;38341004;41298522;9883891", "class_list": "glycogene;glycosyltransferase", "function": "Chondroitin polymerization is achieved by multiple combinations of ChSy-1, ChSy-2, CSGlcA-T, and ChPF and each combination may play a unique role in the biosynthesis of CS; CSGlcA-T is identified as chondroitin synthase-3 (ChSy-3), [RefSeq, PubMed]; Exosomal lncRNA DUXAP8 affecting CHPF2 in the pathogenesis of intracranial aneurysms., [RefSeq, PubMed]; MEK-mediated CHPF2 phosphorylation promotes colorectal cancer cell proliferation and metastasis by activating NF-kappaB signaling., [RefSeq, PubMed]; Non-catalytic component of CHSY1-CHPF2 and CHSY3-CHPF2 chondroitin sulfate synthase complexes. CHPF2 associates with catalytically active chondroitin synthases (CHSY1/3) within heterodimeric complexes. Plays an essential role for the formation of a stable and functional chondroitin sulfate polymerase complexes., [UniProtKB, PubMed, PubMed, PubMed]; Results describe a novel human gene that possesses homology with chondroitin synthase., [RefSeq, PubMed]; The present study focused on the expression of chondroitin-synthesizing enzymes in colorectal cancer., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1156, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2DBD8;Q6P2I4;Q6UXD2", "ec_number_list": [], "go_molecular_function": "GO:0050510 N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity;GO:0047238 glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;GO:0008376 acetylgalactosaminyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0050650 chondroitin sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9P2E5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EP1-1", "uniprot_id": [ { "id": "CHFR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EP1", "type": "external" } ], "mass": 73386.0, "length": 664, "protein_name": "E3 ubiquitin-protein ligase CHFR", "gene_name": "CHFR", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase CHFR isoform 1", "refseq_ac": [ { "id": "NP_001154816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154816", "type": "external" } ], "gene_names_uniprotkb": "CHFR; RNF196", "gene_names_refseq": "CHFR; RNF116; RNF196", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase CHFR; 2.3.2.27; Checkpoint with forkhead and RING finger domains protein; RING finger protein 196; RING-type E3 ubiquitin transferase CHFR", "protein_names_refseq": "E3 ubiquitin-protein ligase CHFR isoform 1; RING finger protein 196; RING-type E3 ubiquitin transferase CHFR; checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55743)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "10935642;11237011;11807090;11912157;11948416;12121644;12538348;12810945;14562038;14612512;14638868;14694445;14695171;15467728;15777939;18172500;18335050;19182791;22159584;23186163;24714562;25578860;26154972;26375851;26728094;27600516;27920218;28832583;28904123;29242379;29557506;29632711;30429286;31154438;31530632;31848261;31998317;32157095;32357974;32488085;32938616;32983136;33298915;33717175;33912179;34087483;34388456;34462429;34842180;35051231;35093868;35580925;36010968;37024798;39894887", "class_list": "", "function": "CHFR is thought to contribute towards regulating mitotic entry and possible explanations for contradictory observations published on the functions and regulation of CHFR are presented. [review] Review article, [RefSeq, PubMed]; CHFR promotes metastasis of human gastric carcinoma by activating AKT and ERK via NRF2- ROS axis. Publication Status: Online-Only, [RefSeq, PubMed]; CHFR regulates chemoresistance in triple-negative breast cancer through destabilizing ZEB1. Publication Status: Online-Only, [RefSeq, PubMed]; CHFR-Promoter-Methylation Status Is Predictive of Response to Irinotecan-based Systemic Chemotherapy in Advanced Colorectal Cancer., [RefSeq, PubMed]; CHFR-mediated degradation of RNF126 confers sensitivity to PARP inhibitors in triple-negative breast cancer cells., [RefSeq, PubMed]; Checkpoint protein Chfr is a ligase that ubiquitinates Plk1 and inhibits Cdc2 at the G2 to M transition, [RefSeq, PubMed]; Chfr regulates a mitotic stress pathway through its RING-finger domain with ubiquitin ligase activity., [RefSeq, PubMed]; Circ-CHFR modulates the proliferation, migration, and invasion of ox-LDL-induced human aorta vascular smooth muscle cells through the miR-214-3p/PAPPA axis., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that functions in the antephase checkpoint by actively delaying passage into mitosis in response to microtubule poisons. Acts in early prophase before chromosome condensation, when the centrosome move apart from each other along the periphery of the nucleus. Probably involved in signaling the presence of mitotic stress caused by microtubule poisons by mediating the 'Lys-48'-linked ubiquitination of target proteins, leading to their degradation by the proteasome. Promotes the ubiquitination and subsequent degradation of AURKA and PLK1. Probably acts as a tumor suppressor, possibly by mediating the polyubiquitination of HDAC1, leading to its degradation. May also promote the formation of 'Lys-63'-linked polyubiquitin chains and functions with the specific ubiquitin-conjugating UBC13-MMS2 (UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinated at 'Lys-63' are usually not targeted for degradation, but are rather involved in signaling cellular stress., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes an E3 ubiquitin-protein ligase required for the maintenance of the antephase checkpoint that regulates cell cycle entry into mitosis and, therefore, may play a key role in cell cycle progression and tumorigenesis. The encoded protein has an N-terminal forkhead-associated domain, a central RING-finger domain, and a cysteine-rich C-terminal region. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NEN5;B4DZ77;B4E2L6;Q96SL3;Q9NRT4;Q9NT32;Q9NVD5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000166 nucleotide binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0016740 transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0016605 PML body", "go_biological_process": "GO:0051301 cell division;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0044818 mitotic G2/M transition checkpoint;GO:0044779 meiotic spindle checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q96EP1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WJ1-1", "uniprot_id": [ { "id": "CHD1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WJ1", "type": "external" } ], "mass": 101000.0, "length": 897, "protein_name": "ATP-dependent chromatin remodeler CHD1L", "gene_name": "CHD1L", "organism": "Human", "refseq_name": "ATP-dependent chromatin remodeler CHD1L isoform 5", "refseq_ac": [ { "id": "NP_001243267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243267", "type": "external" } ], "gene_names_uniprotkb": "CHD1L; ALC1", "gene_names_refseq": "ALC1; CHD1L; CHDL", "protein_names_uniprotkb": "ATP-dependent chromatin remodeler CHD1L; 3.6.4.-; Amplified in liver cancer protein 1; Chromo domain-containing protein 1-like", "protein_names_refseq": "ATP-dependent chromatin remodeler CHD1L isoform 5; ATP-dependent chromatin remodeler CHD1L; amplified in liver cancer 1; amplified in liver cancer protein 1; chromo domain-containing protein 1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:9557); (R-HSA-5696395); (R-HSA-5696400)", "pathway_count": 3, "publication_count": 132, "publication_id_list": "10.1101/2023.09.13.557529;10526214;10734143;11007478;11141066;11237011;11278856;11511374;12080057;14517266;15220921;15590680;16030353;16491090;17000769;17466625;17466626;17948053;18023026;18079701;18614043;18669648;19056823;19279666;19661379;19666485;19713942;19940136;19941824;20068231;20227374;20335658;20368362;20876134;21068133;21282463;21824431;22081108;23038248;23045548;23186163;23352696;23751493;23891004;24129315;24275569;25154395;25418920;25538220;25576301;25645385;25892735;26042670;26151477;26375851;26728094;26768311;26929215;27600516;27862975;27920218;28063628;28218747;28228285;28832583;28834231;29220652;29220653;29237092;29242379;29320706;29331515;29393594;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30379171;30524438;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33275888;33298915;33357431;33392160;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34210977;34405274;34486521;34509645;34874266;34932366;35001835;35051231;35561310;35580925;36010968;36241641;36284347;37747237;37938771;39342328;7559382;7700386;8692841;9130708;9699634;9716411;9771713", "class_list": "", "function": "1q21.1 copy number variant (CNV) results in newly identified function such as decatenation (chromatid untangling) checkpoint (DCC) activation in the case of CHD1l/ALC1 in lymphoblast cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; ALC1 is the target oncogene within the chromosome 1q21 amplicon and plays a pivotal role in hepeatocellular carcinoma pathogenesis., [RefSeq, PubMed]; ATP-dependent chromatin remodeler that mediates chromatin-remodeling following DNA damage (PubMed:19661379, PubMed:29220652, PubMed:29220653, PubMed:33357431, PubMed:34210977, PubMed:34486521, PubMed:34874266). Recruited to DNA damage sites through interaction with poly-ADP-ribose: specifically recognizes and binds histones that are poly-ADP-ribosylated on serine residues in response to DNA damage (PubMed:19661379, PubMed:29220652, PubMed:29220653, PubMed:34486521, PubMed:34874266). Poly-ADP-ribose-binding activates the ATP-dependent chromatin remodeler activity, thereby regulating chromatin during DNA repair (PubMed:19661379, PubMed:29220652, PubMed:29220653, PubMed:34486521, PubMed:34874266). Catalyzes nucleosome sliding away from DNA breaks in an ATP-dependent manner (PubMed:19661379, PubMed:29220652, PubMed:29220653). Chromatin remodeling activity promotes PARP2 removal from chromatin (PubMed:33275888)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ATP-dependent chromatin remodeler that mediates chromatin-remodeling following DNA damage. Recruited to DNA damage sites through interaction with poly-ADP-ribose: specifically recognizes and binds histones that are poly-ADP-ribosylated on serine residues in response to DNA damage. Poly-ADP-ribose-binding activates the ATP-dependent chromatin remodeler activity, thereby regulating chromatin during DNA repair. Catalyzes nucleosome sliding away from DNA breaks in an ATP-dependent manner. Chromatin remodeling activity promotes PARP2 removal from chromatin., [UniProtKB, UniProtKB, UniProtKB]; CHD1L promotes hepatocellular carcinoma progression and metastasis in mice and is associated with these processes in human patients., [RefSeq, PubMed]; Chromodomain Helicase DNA Binding Protein 1-like, a negative regulator of Forkhead box O3a, promotes the proliferation and migration of Angiotensin II-induced vascular smooth muscle cells., [RefSeq, PubMed]; Host genetic variation at a locus near CHD1L impacts HIV sequence diversity in a South African population., [RefSeq, PubMed]; Identification and functional characteristics of CHD1L gene variants implicated in human Mullerian duct anomalies. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of CHD1L was significantly associated with tumour microsatellite formation, advanced tumour stage, overall survival time of patients who received transarterial chemoembolisation treatment and chemoresistance in hepatocellular carcinoma., [RefSeq, PubMed]; Poly(ADP-ribosyl)ation directs recruitment and activation of the ATP-dependent chromatin remodeler ALC1 GeneRIF: Alc1 is a chromatin remodeling enzyme activated by binding of its macrodomain to poly(ADP-ribosyl)ated Parp1. Alc1 is recruited to nucleosomes in vitro and to chromatin in cells when Parp1 catalyzes poly(ADP-ribose) synthesis at sites of DNA damage., [RefSeq, PubMed]; Results define ALC1 as a DNA damage-response protein whose role in this process is sustained by its association with known DNA repair factors and its rapid poly(ADP-ribose)-dependent recruitment to DNA damage sites, [RefSeq, PubMed]; Serine ADP-ribosylation marks nucleosomes for ALC1-dependent chromatin remodeling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5YM64;B4DDE1;B5MDZ7;Q53EZ3;Q5VXX7;Q6DD94;Q6PK83;Q86XH3;Q96HF7;Q96SP3;Q9BVJ1;Q9NVV8", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0000166 nucleotide binding;GO:0016887 ATP hydrolysis activity;GO:0031491 nucleosome binding;GO:0003678 DNA helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break;GO:0090734 site of DNA damage;GO:0005694 chromosome", "go_biological_process": "GO:0006281 DNA repair;GO:0006338 chromatin remodeling;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q86WJ1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE62-1", "uniprot_id": [ { "id": "CHDH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE62", "type": "external" } ], "mass": 65358.0, "length": 594, "protein_name": "Choline dehydrogenase, mitochondrial", "gene_name": "CHDH", "organism": "Human", "refseq_name": "choline dehydrogenase, mitochondrial", "refseq_ac": [ { "id": "NP_060867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060867", "type": "external" } ], "gene_names_uniprotkb": "CHDH", "gene_names_refseq": "CHDH", "protein_names_uniprotkb": "Choline dehydrogenase, mitochondrial; 1.1.99.1; CDH; CHD", "protein_names_refseq": "CDH; CHD; choline dehydrogenase, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:55349); (R-HSA-6798163)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10444331;10767172;10966938;11231903;11237011;12951056;14429690;16729965;16816108;17975144;18230680;19236841;19357133;19737740;20207735;22825317;25483962;27486859;27562178;27677362;28509322;31844290;33124720;33912179;33968037;34087483;35051231;36215666;6163778", "class_list": "", "function": "CHDH gene is located at chromosome 3p21.1, a risk region implicated in previous brains of bipolar disorder genome-wide association studies, [RefSeq, PubMed]; Catalyzes the dehydrogenation of choline to betaine aldehyde in the mitochondria (By similarity). Involved in mitochondrial autophagy after mitochondrial damage (PubMed:25483962)., [UniProtKB, UniProtKB, PubMed]; HOXB13, IL17BR, and CHDH are regulated by estrogen in breast cancer, [RefSeq, PubMed]; In genotypic combination analysis considering PEMT -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT -744GC/CHDH +432GG/BHMT +742GG genotypic combination was significantly higher in mothers of a down syndrome child compared with that in control mothers with an odds ratio of 2.061 (95% CI: 1.10-3.86, P=0.0342)., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Single nucleotide polymorphisms of choline-metabolizing genes, PEMT -774G>C (rs12325817) and CHDH +432G>T (rs12676), were found be related to breast cancer risk GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a choline dehydrogenase that localizes to the mitochondrion. Variations in this gene can affect susceptibility to choline deficiency. A few transcript variants have been found for this gene, but the full-length nature of only one has been characterized to date. [provided by RefSeq, Dec 2010]., [RefSeq]; There is no correlation between single CHDH rs893363 and CHDH rs2289205 polymorphisms and the incidence of intrauterine fetal death., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9NY17", "ec_number_list": [ { "id": "1.1.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.99.1", "type": "external" } ], "go_molecular_function": "GO:0050660 flavin adenine dinucleotide binding;GO:0008812 choline dehydrogenase activity;GO:0016614 oxidoreductase activity, acting on CH-OH group of donors", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0019285 glycine betaine biosynthetic process from choline;GO:0042426 choline catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q8NE62-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NAV2-1", "uniprot_id": [ { "id": "CH058_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NAV2", "type": "external" } ], "mass": 39661.0, "length": 365, "protein_name": "Uncharacterized protein C8orf58", "gene_name": "C8orf58", "organism": "Human", "refseq_name": "uncharacterized protein C8orf58 isoform 1", "refseq_ac": [ { "id": "NP_001013864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013864", "type": "external" } ], "gene_names_uniprotkb": "C8orf58", "gene_names_refseq": "C8orf58", "protein_names_uniprotkb": "Uncharacterized protein C8orf58", "protein_names_refseq": "uncharacterized protein C8orf58 isoform 1; uncharacterized protein C8orf58", "tax_id": 9606, "disease": "", "pathway": " (hsa:541565)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;30379171;31844290;34171305", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DI44", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NAV2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BP2-1", "uniprot_id": [ { "id": "CHCH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BP2", "type": "external" } ], "mass": 13475.0, "length": 118, "protein_name": "Small ribosomal subunit protein mS37", "gene_name": "CHCHD1", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS37", "refseq_ac": [ { "id": "NP_976043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976043", "type": "external" } ], "gene_names_uniprotkb": "CHCHD1; C10orf34; MRPS37", "gene_names_refseq": "C10orf34; C2360; CHCHD1; MRP-S37; mS37", "protein_names_uniprotkb": "Small ribosomal subunit protein mS37; 28S ribosomal protein S37, mitochondrial; Coiled-coil-helix-coiled-coil-helix domain-containing protein 1; MRP-S37; Nuclear protein C2360", "protein_names_refseq": "28S ribosomal protein S37, mitochondrial; coiled-coil-helix-coiled-coil-helix domain-containing protein 1; mitochondrial small ribosomal subunit protein mS37; nuclear protein C2360; small ribosomal subunit protein mS37", "tax_id": 9606, "disease": "", "pathway": " (hsa:118487); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 42, "publication_id_list": "11237011;15177562;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23908630;25233460;25838379;26811146;26992070;27029019;27920218;28063628;28510447;28832583;28892042;29393594;29632046;31844290;31848261;32157095;32387766;32488085;32938616;33141586;33243891;33298915;33878294;33936100;33968037;34171305;36302763;36596788;37141370", "class_list": "", "function": "C2360, a nuclear protein expressed in cytotrophoblasts, is a representative member of a multifamily of proteins, sharing a protein domain that is conserved in eukaryotes., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0001650 fibrillar center;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q96BP2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKJ5-1", "uniprot_id": [ { "id": "CHIC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKJ5", "type": "external" } ], "mass": 19254.0, "length": 165, "protein_name": "Cysteine-rich hydrophobic domain-containing protein 2", "gene_name": "CHIC2", "organism": "Human", "refseq_name": "cysteine-rich hydrophobic domain-containing protein 2", "refseq_ac": [ { "id": "NP_036242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036242", "type": "external" } ], "gene_names_uniprotkb": "CHIC2; BTL", "gene_names_refseq": "BTL; CHIC2", "protein_names_uniprotkb": "Cysteine-rich hydrophobic domain-containing protein 2; BrX-like translocated in leukemia", "protein_names_refseq": "BRX-like translocated in leukemia; cystein-rich hydrophobic domain 2; cysteine-rich hydrophobic domain 2 protein; cysteine-rich hydrophobic domain-containing protein 2", "tax_id": 9606, "disease": "acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:26511)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10477709;11237011;11257495;12842979;19118897;25502872;26992070;28218747;28467828;29242379;29314611;29437277;29557506;29632711;29789417;32350084;33936100;34357683;35154160;35251023", "class_list": "", "function": "Studied a new FISH method to detect CHIC2 deletion, FIP1L1/PDGFRA fusion and PDGFRA translocation in patients with myeloid neoplasms associated with eosinophilia, [RefSeq, PubMed]; This gene encodes a member of the CHIC family of proteins. The encoded protein contains a cysteine-rich hydrophobic (CHIC) motif, and is localized to vesicular structures and the plasma membrane. This gene is associated with some cases of acute myeloid leukemia. [provided by RefSeq, Jul 2008]., [RefSeq]; Used fluorescence in situ hybridization to detect deletion of the CHIC2 locus at 4q12 as a surrogate for the FIP1L1-PDGFRA fusion and was observed in bone marrow cells for 3 of 5 patients with systemic mast cell disease associated with eosinophilia, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R639", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005798 Golgi-associated vesicle;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9UKJ5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYQ3-1", "uniprot_id": [ { "id": "CHC10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYQ3", "type": "external" } ], "mass": 14149.0, "length": 142, "protein_name": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial", "gene_name": "CHCHD10", "organism": "Human", "refseq_name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a", "refseq_ac": [ { "id": "NP_001288268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288268", "type": "external" } ], "gene_names_uniprotkb": "CHCHD10; C22orf16", "gene_names_refseq": "C22orf16; CHCHD10; FTDALS2; IMMD; MIX17A; N27C7-4; SMAJ", "protein_names_uniprotkb": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial; Protein N27C7-4", "protein_names_refseq": "MIX17 homolog A; coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a; coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial", "tax_id": 9606, "disease": "frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (Disease Ontology:DOID:0060214); Parkinson's disease 22 (Disease Ontology:DOID:0080504); spinal muscular atrophy, Jokela type (Disease Ontology:DOID:0081356); isolated mitochondrial myopathy (Disease Ontology:DOID:0081357); Parkinson's disease (Disease Ontology:DOID:14330); motor neuron disease (Disease Ontology:DOID:231); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:400916); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18477386;18507432;18678864;19409522;19453276;19767391;19962426;20593814;20888800;21750375;22898188;23041349;23481700;23597483;23811401;24715725;24934289;25155093;25193783;25315652;25428574;26697887;28832583;28904123;29242379;31844290;32157095;32983136;33141586;33298915;33691108;33936100;34171305;34357683;34932366;35051231;36625206;38132101;38211361", "class_list": "", "function": "CHCHD10 and GBAS are involved in oxidative phosphorylation; CHCHD10 plays role in complex IV activity. GeneRIF: Functional annotation of CHCHD10 as mitochondrial protein with function related to cytochrome-c-oxidase (complex IV) activity., [RefSeq, PubMed]; CHCHD10 encodes a protein located in the mitochondrial intermembrane space and is likely involved in mitochondrial genome stability and maintenance of cristae junctions., [RefSeq, PubMed]; Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion. Publication Status: Online-Only, [RefSeq, PubMed]; Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10., [RefSeq, PubMed]; May be involved in the maintenance of mitochondrial organization and mitochondrial cristae structure., [UniProtKB, PubMed]; Mitochondrial disease (CHCHD10 mutation) may be at the origins of some frontotemporal dementia and amyotrophic lateral sclerosis phenotypes., [RefSeq, PubMed]; NDV inhibited IFN-beta secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation., [RefSeq, PubMed]; This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K0J5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0061617 MICOS complex", "go_biological_process": "GO:0007005 mitochondrion organization;GO:0007006 mitochondrial membrane organization;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8WYQ3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDI0-1", "uniprot_id": [ { "id": "CHD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDI0", "type": "external" } ], "mass": 223050.0, "length": 1954, "protein_name": "ATP-dependent chromatin remodeler CHD5", "gene_name": "CHD5", "organism": "Human", "refseq_name": "ATP-dependent chromatin remodeler CHD5", "refseq_ac": [ { "id": "NP_056372", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056372", "type": "external" } ], "gene_names_uniprotkb": "CHD5; KIAA0444", "gene_names_refseq": "CHD-5; CHD5; PMNDS", "protein_names_uniprotkb": "ATP-dependent chromatin remodeler CHD5; 3.6.4.-; CHD-5; Chromo domain-containing protein 5", "protein_names_refseq": "ATP-dependent chromatin remodeler CHD5; ATP-dependent helicase CHD5; chromo domain-containing protein 5", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684); parenti-mignot neurodevelopmental syndrome (MONDO:MONDO:0859249)", "pathway": " (hsa:26038); (R-HSA-9937850); (R-HSA-9940951)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10204490;10970879;10978333;11237011;12183469;12504854;12592387;15456747;15516265;15643425;15701600;16415179;16428440;16707490;16959974;17289567;17646674;18413720;18571423;18577749;18698156;18953434;19664994;20068231;20523938;21490301;21931736;22398447;23239876;23361464;23948251;24252660;24307175;24385926;24554700;24714562;24920672;25150861;25418920;25593309;25753662;26154972;26797129;26811146;26992070;27633282;27732854;27806305;28533432;28977666;29042441;29493099;29508533;29557506;29786170;30045876;30122475;30134174;30228260;30327463;30410026;30980593;31746185;31848261;32161166;33264408;33283408;33298915;33592498;33717175;33912179;33944996;34087483;34171305;34405274;35051231;35808817;35955624;36008597;36102082;37217939;37440096;37938771;38253038;7969165;9427644;9512513;9804427;9885572", "class_list": "", "function": "A recent functional study identified chromodomain helicase DNA-binding protein 5 (CHD5) as a novel tumor suppressor mapping to 1p36. [REVIEW] Review article, [RefSeq, PubMed]; ATP-dependent chromatin-remodeling factor that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa., [UniProtKB, UniProtKB, PubMed]; CDH5 may play a role in the development of the nervous system, and it may also play a role in the pathogenesis of neural tumors., [RefSeq, PubMed]; CHD5 gene (rs9434741) might be a genetic risk factor for infertility in non-obstructive azoospermia and severe oligozoospermia., [RefSeq, PubMed]; CHD5 gene variant predicts leptomeningeal metastasis after surgical resection of brain metastases of breast cancer., [RefSeq, PubMed]; CHD5 is the strongest candidate tumor suppressor gene that is deleted from 1p36.31 in neuroblastomas, and inactivation of the second allele may occur by an epigenetic mechanism., [RefSeq, PubMed]; MRNA expression and epigenetic-based role of chromodomain helicase DNA-binding 5 in hepatocellular carcinoma., [RefSeq, PubMed]; Pan-Cancer Analysis Identifies CHD5 as a Potential Biomarker for Glioma. Publication Status: Online-Only, [RefSeq, PubMed]; Study demonstrated the existence of somatic mutations and methylation of CHD5 in primary epithelial ovarian cancers; CHD5 may play a role as a tumor suppressor gene in ovarian cancer, [RefSeq, PubMed]; Study demonstrates that Chd5 functions as a tumor suppressor in vivo and implicates deletion of CHD5 in human cancer., [RefSeq, PubMed]; The DNA methylation profiles of CHD family members (CHD1-9) in different tumor types., [RefSeq, PubMed]; This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O75032;Q5TG89;Q7LGH2;Q9UFR9", "ec_number_list": [ { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.1.3.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.11", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.1.3.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.9", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.98", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.98", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.1.13.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.1", "type": "external" }, { "id": "5.6.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.6", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.4.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.3", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;GO:0016607 nuclear speck;GO:0000785 chromatin", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:1901798 positive regulation of signal transduction by p53 class mediator", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q8TDI0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0C6-1", "uniprot_id": [ { "id": "CIPC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0C6", "type": "external" } ], "mass": 42692.0, "length": 399, "protein_name": "CLOCK-interacting pacemaker", "gene_name": "CIPC", "organism": "Human", "refseq_name": "CLOCK-interacting pacemaker", "refseq_ac": [ { "id": "NP_219494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_219494", "type": "external" } ], "gene_names_uniprotkb": "CIPC; KIAA1737", "gene_names_refseq": "CIPC; KIAA1737", "protein_names_uniprotkb": "CLOCK-interacting pacemaker; CLOCK-interacting circadian protein", "protein_names_refseq": "CLOCK-interacting circadian protein; CLOCK-interacting pacemaker; CLOCK-interacting protein, circadian", "tax_id": 9606, "disease": "", "pathway": " (hsa:85457); (R-HSA-9931510)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10857746;11237011;14750904;17994337;18317514;18507432;18767875;1971514;23186163;24715725;25645385;26154972;26657846;26992070;28228285;28514659;28832583;28904123;29242379;29331515;30484775;30524438;31154438;31217245;31844290;31848261;32157095;32161166;32387766;32502341;32897882;33141586;33298915;33691108;33968037;34171305;35051231;36241641;36284347", "class_list": "", "function": "Since CAD and Erk have significant roles in cell proliferation and cell cycle, CIPC may work as a cell cycle regulator by interacting with these binding proteins., [RefSeq, PubMed]; Transcriptional repressor which may act as a negative-feedback regulator of CLOCK-BMAL1 transcriptional activity in the circadian-clock mechanism. May stimulate BMAL1-dependent phosphorylation of CLOCK. However, the physiological relevance of these observations is unsure, since experiments in an animal model showed that CIPC is not critially required for basic circadian clock., [UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RCI1;Q8N389;Q8NDZ1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0048511 rhythmic process;GO:0042754 negative regulation of circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9C0C6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IU89-1", "uniprot_id": [ { "id": "CERS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IU89", "type": "external" } ], "mass": 46316.0, "length": 383, "protein_name": "Ceramide synthase 3", "gene_name": "CERS3", "organism": "Human", "refseq_name": "ceramide synthase 3 isoform 1", "refseq_ac": [ { "id": "NP_001277270", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277270", "type": "external" } ], "gene_names_uniprotkb": "CERS3; LASS3", "gene_names_refseq": "ARCI9; CERS3; LASS3", "protein_names_uniprotkb": "Ceramide synthase 3; 2.3.1.24; 2.3.1.297; 2.3.1.298; CerS3; Dihydroceramide synthase 3; LAG1 longevity assurance homolog 3; Sphingosine N-acyltransferase CERS3; Ultra-long-chain ceramide synthase CERS3; Very-long-chain ceramide synthase CERS3", "protein_names_refseq": "LAG1 homolog, ceramide synthase 3; LAG1 longevity assurance homolog 3; ceramide synthase 3 isoform 1; dihydroceramide synthase 3; sphingosine N-acyltransferase CERS3; ultra-long-chain ceramide synthase CERS3; very-long-chain ceramide synthase CERS3", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 9 (Disease Ontology:DOID:0060718)", "pathway": " (hsa:204219); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;10722674;10751414;10802064;10947957;11237011;11937514;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17977534;17982138;18165232;18165233;18184806;19005213;19233134;19416851;19506037;20061445;20110355;20182505;21620961;22038835;22517924;22970244;23180825;23549421;23602659;23754960;24569996;24782409;25788259;26045466;26887952;27862975;28575652;29563527;29769354;30779550;31895563;32815268;33684145;35051231;35409383;35753729;36902339;36907437;37128664;37224812;37390971;4339164;4817756;9188692;9312549;9363775", "class_list": "glycogene", "function": "A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis., [RefSeq, PubMed]; Beta-Sitosterol 3-O-D-glucoside increases ceramide levels in the stratum corneum via the up-regulated expression of ceramide synthase-3 and glucosylceramide synthase in a reconstructed human epidermal keratinization model. Publication Status: Online-Only, [RefSeq, PubMed]; Ceramide synthase 3 affects invasion and metastasis of hepatocellular carcinoma via the SMAD6 gene.', trans '3SMAD6., [RefSeq, PubMed]; Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very- and ultra-long-chain fatty acyl-CoA (chain length greater than C22) (PubMed:17977534, PubMed:22038835, PubMed:26887952). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:17977534, PubMed:22038835, PubMed:26887952). It is crucial for the synthesis of ultra-long-chain ceramides in the epidermis, to maintain epidermal lipid homeostasis and terminal differentiation (PubMed:23754960)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD., [RefSeq, PubMed]; Testis-specific SLs, which we also link to CerS3 in human testis, are quintessential for male fertility., [RefSeq, PubMed]; These data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis. Erratum:[PLoS Genet. 2013 Jun;9(6): doi/10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe], [RefSeq, PubMed]; This gene is a member of the ceramide synthase family of genes. The ceramide synthase enzymes regulate sphingolipid synthesis by catalyzing the formation of ceramides from sphingoid base and acyl-coA substrates. This family member is involved in the synthesis of ceramides with ultra-long-chain acyl moieties (ULC-Cers), important to the epidermis in its role in creating a protective barrier from the environment. The protein encoded by this gene has also been implicated in modification of the lipid structures required for spermatogenesis. Mutations in this gene have been associated with male fertility defects, and epidermal defects, including ichthyosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 504, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NE64;Q8NEN6", "ec_number_list": [ { "id": "2.3.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.24", "type": "external" }, { "id": "2.3.1.299", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.299", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.291", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.291", "type": "external" }, { "id": "2.3.1.298", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.298", "type": "external" }, { "id": "2.3.1.297", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.297", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0050291 sphingosine N-acyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046513 ceramide biosynthetic process;GO:0008544 epidermis development;GO:0030148 sphingolipid biosynthetic process;GO:0030216 keratinocyte differentiation;GO:0070268 cornification", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8IU89-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWX8-1", "uniprot_id": [ { "id": "CHERP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWX8", "type": "external" } ], "mass": 103702.0, "length": 916, "protein_name": "Calcium homeostasis endoplasmic reticulum protein", "gene_name": "CHERP", "organism": "Human", "refseq_name": "calcium homeostasis endoplasmic reticulum protein isoform 2", "refseq_ac": [ { "id": "NP_006378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006378", "type": "external" } ], "gene_names_uniprotkb": "CHERP; DAN26; SCAF6", "gene_names_refseq": "CHERP; DAN16; SCAF6", "protein_names_uniprotkb": "Calcium homeostasis endoplasmic reticulum protein; ERPROT 213-21; SR-related CTD-associated factor 6", "protein_names_refseq": "ERPROT 213-21; ERPROT213-21; SR-related CTD associated factor 6; calcium homeostasis endoplasmic reticulum protein isoform 2; protein with polyglutamine repeat", "tax_id": 9606, "disease": "", "pathway": " (hsa:10523); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 221, "publication_id_list": "10199952;10669729;10794731;10882114;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;12656674;12682017;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15565158;15647753;16263726;16314458;16372014;16809785;17081983;17095540;17128255;17332742;17433364;17606899;17717186;18042460;18212344;18288197;18322460;18452278;18593880;18669648;19103666;19165350;19217410;19413330;19536130;19608861;19651622;19690332;20068231;20211137;20423332;20695905;20980672;21295486;21406692;21454501;21536652;2176635;21911577;22046413;22110043;22365833;22569126;22813749;22922743;22959432;22961380;23186163;23222130;23236153;23345524;23481700;23874216;24076191;24149845;24196718;24304693;24448447;24714562;24737827;24914973;25301780;25301781;25555158;25576301;2558966;25645385;26092250;26154972;26375851;26385511;26420826;26969736;26992070;27108190;27377154;27397612;27459055;27600516;27661449;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30429286;30524438;30599162;30705154;30728453;30765414;30779550;30833945;30975767;30977118;31092671;31154438;31217245;31409651;31844290;31848261;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32357974;32387766;32488085;32494006;32502341;32816001;32897882;32938616;33177556;33214551;33243851;33298915;33446560;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34301950;34405274;34561969;34822310;34846842;34932366;35051231;35177536;35215846;35251023;35318648;35385551;35561310;35580925;36010968;36284347;37217939;3757028;37938771;38665916;40596516;8010949;8566756;8608946;8896557;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "CHERP is an RyR1 interacting protein that may be involved in the regulation of excitation-contraction coupling, [RefSeq, PubMed]; Involved in calcium homeostasis, growth and proliferation., [UniProtKB, PubMed, PubMed]; Study observed that CHERP and its binding partner SR140 are significantly upregulated in human clinical colorectal cancer tissues (CRC) and clarified how CHERP/SR140 exert an oncogenic role in CRC development partially through regulating expression of UPF3A variants., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O00302;Q4G0Y5;Q8WU30;Q99492", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0033017 sarcoplasmic reticulum membrane", "go_biological_process": "GO:0006396 RNA processing;GO:0007399 nervous system development;GO:0008285 negative regulation of cell population proliferation;GO:0006874 intracellular calcium ion homeostasis;GO:0051209 release of sequestered calcium ion into cytosol", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "Q8IWX8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUL8-1", "uniprot_id": [ { "id": "CILP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUL8", "type": "external" } ], "mass": 126291.0, "length": 1156, "protein_name": "Cartilage intermediate layer protein 2", "gene_name": "CILP2", "organism": "Human", "refseq_name": "cartilage intermediate layer protein 2 precursor", "refseq_ac": [ { "id": "NP_694953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694953", "type": "external" } ], "gene_names_uniprotkb": "CILP2", "gene_names_refseq": "CILP2; CLIP-2", "protein_names_uniprotkb": "Cartilage intermediate layer protein 2; CILP-2", "protein_names_refseq": "CILP-2; cartilage intermediate layer protein 2 precursor; cartilage intermediate layer protein-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:148113)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;12746903;18193044;18987386;21880736;23584533;24190977;26758378;27893789;29393594;30429286;32350084;32488085;33204392;33592498;34171305;36370214;38670440;38816545", "class_list": "", "function": "CILP2 is a potential biomarker for the prediction and therapeutic target of peritoneal metastases in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; CILP2 promotes hypertrophic scar through Snail acetylation by interaction with ACLY., [RefSeq, PubMed]; Circulating Levels of CILP2 Are Elevated in Coronary Heart Disease and Associated with Atherosclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of CILP-2 and DDR2 and ultrastructural changes in the articular cartilage of patients with knee osteoarthritis undergoing total knee arthroplasty: a pilot morphological study., [RefSeq, PubMed]; May play a role in cartilage scaffolding., [UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2008 Nov;40(11):1384], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This study aims to analyze the influences of single-nucleotide polymorphism in the NCAN-CILP2 region on non-alcoholic fatty liver disease and plasma lipid levels in the Asian and Pacific ethnic groups. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6NV88;Q8N4A6;Q8WV21", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8IUL8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y240-1", "uniprot_id": [ { "id": "CLC11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y240", "type": "external" } ], "mass": 35695.0, "length": 323, "protein_name": "C-type lectin domain family 11 member A", "gene_name": "CLEC11A", "organism": "Human", "refseq_name": "C-type lectin domain family 11 member A precursor", "refseq_ac": [ { "id": "NP_002966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002966", "type": "external" } ], "gene_names_uniprotkb": "CLEC11A; CLECSF3; LSLCL; SCGF", "gene_names_refseq": "CLEC11A; CLECSF3; LSLCL; P47; SCGF", "protein_names_uniprotkb": "C-type lectin domain family 11 member A; C-type lectin superfamily member 3; Lymphocyte secreted C-type lectin; Osteolectin; Stem cell growth factor; p47", "protein_names_refseq": "C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 3; C-type lectin domain family 11 member A precursor; C-type lectin domain family 11 member A; C-type lectin superfamily member 3; lymphocyte secreted C-type lectin; lymphocyte secreted long form of C-type lectin; osteolectin; stem cell growth factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6320)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "10.1038/emboj.2013.79;10198175;11237011;11803813;11920266;23584533;25645385;26992070;27976999;29242379;29557506;30192525;30429286;30459171;30524438;31611695;31844290;31848261;32157095;32265295;32350084;32387766;32897882;32938616;33141586;33392160;33912179;34140410;34509645;35051231;35251023;36010968;38348052;38466706;38665916;40307207;9442024;9705843", "class_list": "glycogene", "function": "CLEC11A methylation is correlated to AML subtypes and cytogenetic risk factors but not patient demographics. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and characterization of CLEC11A and its derived immune signature in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Promotes osteogenesis by stimulating the differentiation of mesenchymal progenitors into mature osteoblasts (PubMed:27976999). Important for repair and maintenance of adult bone (By similarity)., [UniProtKB, UniProtKB, PubMed]; The effect of parathyroid hormone on osteogenesis is mediated partly by osteolectin., [RefSeq, PubMed]; This gene encodes a member of the C-type lectin superfamily. The encoded protein is a secreted sulfated glycoprotein and functions as a growth factor for primitive hematopoietic progenitor cells. An alternative splice variant has been described but its biological nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 494, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RAD4", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0001503 ossification", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9Y240-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7LGC8-1", "uniprot_id": [ { "id": "CHST3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7LGC8", "type": "external" } ], "mass": 54706.0, "length": 479, "protein_name": "Carbohydrate sulfotransferase 3", "gene_name": "CHST3", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 3", "refseq_ac": [ { "id": "NP_004264", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004264", "type": "external" } ], "gene_names_uniprotkb": "CHST3", "gene_names_refseq": "C6ST1; C6ST; CHST3; HSD", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 3; 2.8.2.17; 2.8.2.21; C6ST-1; C6ST; Chondroitin 6-O-sulfotransferase 1; Chondroitin 6-sulfotransferase; GST-0; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0", "protein_names_refseq": "C6ST-1; GST-0; carbohydrate (chondroitin 6) sulfotransferase 3; carbohydrate sulfotransferase 3; chondroitin 6 sulfotransferase 1; chondroitin 6-O-sulfotransferase 1; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0", "tax_id": 9606, "disease": "spondyloepiphyseal dysplasia with congenital joint dislocations (Disease Ontology:DOID:0050813); osteochondrodysplasia (Disease Ontology:DOID:2256); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9469); (R-HSA-2022854); (R-HSA-2022870); (R-HSA-3595172)", "pathway_count": 4, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10206952;10491328;10504389;10781596;10781601;10963998;11030741;11042166;11042394;11056388;11139592;112567;11283017;11514575;11588157;11788602;11821425;11901181;12080076;12145278;12163485;12218059;12761225;12874280;12907687;15098240;15215498;15368507;15486459;15560372;15620693;17021253;1714903;17227754;18316376;18513679;18698629;19320654;20830804;21129727;21129728;23090970;23918704;24190977;27599773;29514872;29557506;31154438;32350084;32938616;33495490;35051231;35251023;35318648;36010968;36042462;36215666;37074911;37183573;37621132;37876363;38034954;8333853;8611500;8920913;9039660;9405439;9417100;9597550;9714738;9883891", "class_list": "glycogene", "function": "Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds. Publication Status: Online-Only, [RefSeq, PubMed]; CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum., [RefSeq, PubMed]; Chondroitin 6-sulfate represses keratinocyte proliferation in mouse skin, which is associated with psoriasis. Publication Status: Online-Only, [RefSeq, PubMed]; Dampening HOTAIR sensitizes the gastric cancer cells to oxaliplatin through miR-195-5p and ABCG2 pathway., [RefSeq, PubMed]; Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin (PubMed:15215498, PubMed:9714738, PubMed:9883891). Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage and is distributed on the surfaces of many cells and extracellular matrices (PubMed:9714738). Catalyzes with a lower efficiency the sulfation of Gal residues of keratan sulfate, another glycosaminoglycan (PubMed:9714738). Can also catalyze the sulfation of the Gal residues in sialyl N-acetyllactosamine (sialyl LacNAc) oligosaccharides (By similarity). May play a role in the maintenance of naive T-lymphocytes in the spleen (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 737, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 4, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "O75099;Q52M30", "ec_number_list": [ { "id": "2.8.2.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.17", "type": "external" }, { "id": "2.8.2.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.21", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" } ], "go_molecular_function": "GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity;GO:0008459 chondroitin 6-sulfotransferase activity;GO:0045130 keratan sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0005975 carbohydrate metabolic process;GO:0006790 sulfur compound metabolic process;GO:0018146 keratan sulfate proteoglycan biosynthetic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q7LGC8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4T9-7", "uniprot_id": [ { "id": "CFA91_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4T9", "type": "external" } ], "mass": 89955.0, "length": 767, "protein_name": "Cilia- and flagella-associated protein 91", "gene_name": "CFAP91", "organism": "Human", "refseq_name": "cilia- and flagella-associated protein 91 isoform 3", "refseq_ac": [ { "id": "NP_001307246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307246", "type": "external" } ], "gene_names_uniprotkb": "CFAP91; AAT1; C3orf15; MAATS1", "gene_names_refseq": "AAT1alpha; AAT1; C3orf15; CFAP91; CaM-IP2; MAATS1; SPATA26; SPGF51", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 91; AAT-1; AMY-1-associating protein expressed in testis 1; CFAP91; MYCBP/AMY-1-associated testis-expressed protein 1; Protein MAATS1", "protein_names_refseq": "AAT-1; AAT1-alpha; AMY-1-associating protein expressed in testis 1; MYCBP associated and testis expressed 1; MYCBP-associated, testis expressed 1; MYCBP-binding protein; MYCBP/AMY-1-associated testis-expressed protein 1; MYCBP/AMY-1-associated, testis expressed 1; cilia- and flagella-associated protein 91 isoform 3; protein MAATS1; spermatogenesis associated 26", "tax_id": 9606, "disease": "spermatogenic failure 51 (Disease Ontology:DOID:0112273)", "pathway": " (hsa:89876)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12223483;12692006;14551891;15863901;17287340;30379171;31844290;32161152;34171305;35051231;35580925;37217939", "class_list": "", "function": "A hydrophobic groove near the exposed residue 213 allows AAT to entrap gemfibrozil (but not fenofibrate), preventing PPARalpha activation. 2 independent studies support a protective role for AAT in established coronary artery atherogenesis progression., [RefSeq, PubMed]; Allelic variants of the M2 and A332A haplotypes of the human alpha-1-antitrypsin (AAT) gene are associated with human immunodeficiency virus (HIV) infection in 2 African-based populations from HIV-pandemic sub-Saharan Africa., [RefSeq, PubMed]; Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility., [RefSeq, PubMed]; Identified a novel AMY-1-binding protein, AAT-1, and determined its expression profiles, genes, and cellular localization; results showed that AAT-1 was specifically expressed in the testis throughout spermatogenesis and was also present in mature sperm, [RefSeq, PubMed]; Involved in sperm flagellum axonemal organization and function (PubMed:12223483, PubMed:32161152). May regulate cilium motility through its role in the assembly of the axonemal radial spokes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AVK2;A8K1J9;B3KP23;B4DG52;B4DZ14;C9JUG4;Q68DX2;Q8TD41;Q96A45;Q96JE8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0031514 motile cilium;GO:0005930 axoneme", "go_biological_process": "GO:1904158 axonemal central apparatus assembly;GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q7Z4T9-7", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N326-1", "uniprot_id": [ { "id": "CJ111_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N326", "type": "external" } ], "mass": 17766.0, "length": 155, "protein_name": "Putative uncharacterized protein RPP38-DT", "gene_name": "RPP38-DT", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RPP38-DT; C10orf111", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein RPP38-DT; RPP38 divergent transcript protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAC4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8N326-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6V4-1", "uniprot_id": [ { "id": "CJ053_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6V4", "type": "external" } ], "mass": 10399.0, "length": 93, "protein_name": "UPF0728 protein C10orf53", "gene_name": "C10orf53", "organism": "Human", "refseq_name": "UPF0728 protein C10orf53 isoform b", "refseq_ac": [ { "id": "NP_001035892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035892", "type": "external" } ], "gene_names_uniprotkb": "C10orf53", "gene_names_refseq": "C10orf53", "protein_names_uniprotkb": "UPF0728 protein C10orf53", "protein_names_refseq": "UPF0728 protein C10orf53 isoform b; UPF0728 protein C10orf53", "tax_id": 9606, "disease": "", "pathway": " (hsa:282966)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "20379614", "class_list": "", "function": "Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) Erratum:[Mol Med. 2012;18(1):729], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NI81;A6NLE0;B9ZVK6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N6V4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8E3-1", "uniprot_id": [ { "id": "CE112_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8E3", "type": "external" } ], "mass": 112749.0, "length": 955, "protein_name": "Centrosomal protein of 112 kDa", "gene_name": "CEP112", "organism": "Human", "refseq_name": "centrosomal protein of 112 kDa isoform b", "refseq_ac": [ { "id": "NP_001032402", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032402", "type": "external" } ], "gene_names_uniprotkb": "CEP112; CCDC46", "gene_names_refseq": "CCDC46; CEP112; MACOCO; SPGF44", "protein_names_uniprotkb": "Centrosomal protein of 112 kDa; Cep112; Coiled-coil domain-containing protein 46", "protein_names_refseq": "centrosomal protein 112kDa; centrosomal protein of 112 kDa isoform b; centrosomal protein of 112 kDa; coiled-coil domain-containing protein 46", "tax_id": 9606, "disease": "spermatogenic failure 44 (Disease Ontology:DOID:0112109)", "pathway": " (hsa:201134)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;20378664;20417281;21399614;23301498;25576301;26992070;27600516;29786170;31654588;32157095;32502341;32938616;33592498;33912179;33968037;34561969;35051231;36215666;39349455", "class_list": "", "function": "Loss-of-function mutations in centrosomal protein 112 is associated with human acephalic spermatozoa phenotype., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Mult Scler. 2010 Jun;16(6):765], [RefSeq, PubMed]; Recruits mRNAs essential for sperm development, such as CFAP61 and FSIP2 mRNAs, into phase-separated condensates, thereby regulating their translation through a mechanism of liquid-liquid phase separation., [UniProtKB, PubMed]; This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]., [RefSeq]; We report that Maf1 interacts with a novel coiled-coil domain containing protein that we have called Macoco., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PIB5;Q8NCR4;Q8NFR4", "ec_number_list": [], "go_molecular_function": "GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005886 plasma membrane;GO:0005814 centriole;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8N8E3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9R6-1", "uniprot_id": [ { "id": "CDRT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9R6", "type": "external" } ], "mass": 17643.0, "length": 152, "protein_name": "CMT1A duplicated region transcript 4 protein", "gene_name": "CDRT4", "organism": "Human", "refseq_name": "CMT1A duplicated region transcript 4 protein", "refseq_ac": [ { "id": "NP_001191406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191406", "type": "external" } ], "gene_names_uniprotkb": "CDRT4", "gene_names_refseq": "CDRT4", "protein_names_uniprotkb": "CMT1A duplicated region transcript 4 protein", "protein_names_refseq": "CMT1A duplicated region transcript 4 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:284040)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11381029;26853435;30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MSL9;D3DTT2;Q8IZ19", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N9R6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAV5-1", "uniprot_id": [ { "id": "KC5S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAV5", "type": "external" } ], "mass": 15559.0, "length": 145, "protein_name": "Uncharacterized protein KCNJ5-AS1", "gene_name": "KCNJ5-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "KCNJ5-AS1; C11orf45", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein KCNJ5-AS1; KCNJ5 antisense RNA 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R3N7;B2RAD0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q8TAV5-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCT0-1", "uniprot_id": [ { "id": "CERK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCT0", "type": "external" } ], "mass": 59977.0, "length": 537, "protein_name": "Ceramide kinase", "gene_name": "CERK", "organism": "Human", "refseq_name": "ceramide kinase", "refseq_ac": [ { "id": "NP_073603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073603", "type": "external" } ], "gene_names_uniprotkb": "CERK; KIAA1646", "gene_names_refseq": "CERK; LK4; dA59H18.2; dA59H18.3; hCERK", "protein_names_uniprotkb": "Ceramide kinase; 2.7.1.138; Acylsphingosine kinase; LK4; Lipid kinase 4; hCERK", "protein_names_refseq": "acylsphingosine kinase; ceramide kinase; lipid kinase 4; lipid kinase LK4", "tax_id": 9606, "disease": "", "pathway": " (hsa:64781); (R-HSA-9840309)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10601645;10748143;10993897;11018043;11237011;11258795;11283017;11956206;12222957;12668675;12815231;12888565;1601877;16081073;16269826;16934889;17392267;18477386;19168031;19899769;20547865;2118655;22735313;23290777;23481700;23746551;23882130;24498430;25502872;25576301;26992070;27725450;27846572;27920218;28218747;28228285;28467828;28832583;28855257;29242379;29314611;29393594;29493099;29557506;29802621;30315122;30429286;31217245;31844290;32157095;32350084;32387766;32502341;32983136;33298915;33392160;33592498;33859296;33936100;34357683;34433824;34561969;34932366;34982351;35251023;35561310;36215666;36241641;36309544;36410675;37217939;38556546;7876235;7890749;8643456;8830034;8910600;8920913;9030544;9125199;9199191;9582303;9822625", "class_list": "glycogene", "function": "CERK converts ceramide to ceramide 1-phosphate (C1P), a sphingolipid metabolite. Both CERK and C1P have been implicated in various cellular processes, including proliferation, apoptosis, phagocytosis, and inflammation (Kim et al., 2006 [PubMed 16488390]).[supplied by OMIM, Mar 2008]., [RefSeq]; Catalyzes specifically the phosphorylation of ceramide to form ceramide 1-phosphate (PubMed:11956206, PubMed:16269826, PubMed:19168031). Acts efficiently on natural and analog ceramides (C6, C8, C16 ceramides, and C8-dihydroceramide), to a lesser extent on C2-ceramide and C6-dihydroceramide, but not on other lipids, such as various sphingosines (PubMed:11956206, PubMed:16269826, PubMed:17392267, PubMed:19168031). Shows a greater preference for D-erythro isomer of ceramides (PubMed:16269826). Binds phosphoinositides (PubMed:19168031)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Ceramide kinase confers tamoxifen resistance in estrogen receptor-positive breast cancer by altering sphingolipid metabolism., [RefSeq, PubMed]; Ceramide kinase regulates TNF-alpha-induced immune responses in human monocytic cells. Publication Status: Online-Only, [RefSeq, PubMed]; Ceramide kinase-mediated C1P metabolism attenuates acute liver injury by inhibiting the interaction between KEAP1 and NRF2., [RefSeq, PubMed]; Clinical relevance of CERK and SPHK1 in breast cancer and their association with metastasis and drug resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular cloning and functional characterization, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 660, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0JNT4;A8K611;Q6NX59;Q9BYB3;Q9UGE5", "ec_number_list": [ { "id": "2.7.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.107", "type": "external" }, { "id": "2.7.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.94", "type": "external" }, { "id": "2.7.1.138", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.138", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0001729 ceramide kinase activity;GO:0005524 ATP binding;GO:0016301 kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0160281 cytoplasmic side of trans-Golgi network membrane", "go_biological_process": "GO:0006688 glycosphingolipid biosynthetic process;GO:0006672 ceramide metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q8TCT0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CF2-1", "uniprot_id": [ { "id": "CHM4C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CF2", "type": "external" } ], "mass": 26411.0, "length": 233, "protein_name": "Charged multivesicular body protein 4c", "gene_name": "CHMP4C", "organism": "Human", "refseq_name": "charged multivesicular body protein 4c", "refseq_ac": [ { "id": "NP_689497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689497", "type": "external" } ], "gene_names_uniprotkb": "CHMP4C; SHAX3", "gene_names_refseq": "CHMP4C; SNF7-3; Shax3; VPS32C", "protein_names_uniprotkb": "Charged multivesicular body protein 4c; CHMP4c; Chromatin-modifying protein 4c; SNF7 homolog associated with Alix 3; SNF7-3; Vacuolar protein sorting-associated protein 32-3; Vps32-3; hSnf7-3; hVps32-3", "protein_names_refseq": "SNF7 homolog associated with Alix 3; Snf7 homologue associated with Alix 3; charged multivesicular body protein 4c; chromatin modifying protein 4C; chromatin-modifying protein 4c; hSnf7-3; hVps32-3; vacuolar protein sorting-associated protein 32-3; vps32-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:92421); (R-HSA-162588); (R-HSA-1632852); (R-HSA-5620971); (R-HSA-917729); (R-HSA-9610379); (R-HSA-9615710); (R-HSA-9668328); (R-HSA-9679504); (R-HSA-9694676)", "pathway_count": 10, "publication_count": 124, "publication_id_list": "11096062;11563910;11825910;14505569;14505570;14519844;14583093;14624836;14678797;15075231;15187094;15218037;15331731;15473846;16371348;16897187;16963840;16973552;17618624;18292551;18321988;18439900;18511562;19211835;19322194;19527882;19590496;19640981;19855179;19859801;19898463;20058876;20059746;20112406;20713597;20921139;21177865;21205641;21238931;21258367;21383122;21460621;21757351;21799305;21819378;2204156;22170151;22422861;22660413;22682742;22724069;22762019;23202584;23266279;23305486;23481700;23685627;23727157;23884233;24747438;24814515;24954904;25135833;25484072;25568151;25576301;25961502;26040712;26040713;26375003;26508369;27126587;27281216;27383986;27418190;27784789;27846572;2799391;28004745;28045099;28242692;28392147;28411811;28459430;28832583;28904123;29177860;29242379;29331515;29508533;29539421;29786170;29891674;29898893;29990470;30143555;30379171;30513301;30833945;30976076;31113851;31231549;31844290;31848261;32109412;32157095;32188940;32350084;32367036;32387766;32406588;32820063;32938616;33968037;33975940;34087483;34171305;34561969;34951683;35051231;36215666;36284347;39138470;7628435", "class_list": "", "function": "CHMP4C belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]., [RefSeq]; Chromatin modified protein 4C (CHMP4C) facilitates the malignant development of cervical cancer cells., [RefSeq, PubMed]; Exploring the clinical and biological significance of the cell cycle-related gene CHMP4C in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Role for ESCRT-III Component CHMP4C in the Integrity of the Endocytic Network Utilized for Herpes Simplex Virus Envelopment. Publication Status: Online-Only, [RefSeq, PubMed]; Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). Key component of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage: upon phosphorylation by AURKB, together with ZFYVE19/ANCHR, retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation from ANCHR and VPS4 and subsequent abscission (PubMed:22422861, PubMed:24814515). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; VPS32, a member of the ESCRT complex, modulates adherence to host cells in the parasite Trichomonas vaginalis by affecting biogenesis and cargo sorting of released extracellular vesicles. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBZ1", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000815 ESCRT III complex;GO:0005828 kinetochore microtubule;GO:0000421 autophagosome membrane;GO:0005635 nuclear envelope;GO:0005643 nuclear pore", "go_biological_process": "GO:0001778 plasma membrane repair;GO:0010824 regulation of centrosome duplication;GO:0031468 nuclear membrane reassembly;GO:0036258 multivesicular body assembly;GO:0039702 viral budding via host ESCRT complex", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q96CF2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GV9-1", "uniprot_id": [ { "id": "MACIR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GV9", "type": "external" } ], "mass": 23083.0, "length": 206, "protein_name": "Macrophage immunometabolism regulator", "gene_name": "MACIR", "organism": "Human", "refseq_name": "macrophage immunometabolism regulator", "refseq_ac": [ { "id": "NP_001303897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303897", "type": "external" } ], "gene_names_uniprotkb": "MACIR; C5orf30", "gene_names_refseq": "C5orf30; MACIR", "protein_names_uniprotkb": "Macrophage immunometabolism regulator", "protein_names_refseq": "UNC119-binding protein C5orf30; UPF0684 protein C5orf30; macrophage immunometabolism regulator", "tax_id": 9606, "disease": "", "pathway": " (hsa:90355)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "18669648;19651622;19664994;20068231;21406692;22085962;23186163;23817893;25418920;26154972;26316022;28228285;28904123;29393594;30315122;30659109;31092671;31844290;32157095;32161166;32938616;33298915;33968037;34171305;36010968;36241641", "class_list": "", "function": "Regulates the macrophage function, by enhancing the resolution of inflammation and wound repair functions mediated by M2 macrophages (PubMed:30659109). The regulation of macrophage function is, due at least in part, to its ability to inhibit glycolysis (PubMed:30659109). May also play a role in trafficking of proteins via its interaction with UNC119 and UNC119B cargo adapters: may help the release of UNC119 and UNC119B cargo or the recycling of UNC119 and UNC119B (PubMed:22085962). May play a role in ciliary membrane localization via its interaction with UNC119B and protein transport into photoreceptor cells (PubMed:22085962)., [UniProtKB, PubMed, PubMed]; The variant rs26232, in the first intron of the C5orf30 locus, is associated with the severity of radiologic damage in rheumatoid arthritis and is independent of established prognostic biomarkers., [RefSeq, PubMed]; This gene, MACIR (previously known as C5orf30), has been associated with rheumatoid arthritis, functioning as a negative regulator of tissue damage and modulating the activity of synovial fibroblasts and macrophages. The encoded protein is highly conserved in vertebrate genomes but has no significant similarity to any other human protein. [provided by RefSeq, Dec 2019]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005929 cilium;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0010764 negative regulation of fibroblast migration;GO:0006954 inflammatory response;GO:0015031 protein transport;GO:0050728 negative regulation of inflammatory response;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96GV9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KT6-1", "uniprot_id": [ { "id": "CH014_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KT6", "type": "external" } ], "mass": 9816.0, "length": 92, "protein_name": "Putative uncharacterized protein encoded by LINC00208", "gene_name": "LINC00208", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00208; C8orf14; NCRNA00208", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by LINC00208", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "24715725;29557506", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q96KT6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M19-1", "uniprot_id": [ { "id": "CL067_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M19", "type": "external" } ], "mass": 18185.0, "length": 166, "protein_name": "Putative transmembrane protein encoded by LINC00477", "gene_name": "LINC00477", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00477; C12orf67", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transmembrane protein encoded by LINC00477", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q96M19-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96ST8-1", "uniprot_id": [ { "id": "CEP89_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96ST8", "type": "external" } ], "mass": 89590.0, "length": 783, "protein_name": "Centrosomal protein of 89 kDa", "gene_name": "CEP89", "organism": "Human", "refseq_name": "centrosomal protein of 89 kDa", "refseq_ac": [ { "id": "NP_116205", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116205", "type": "external" } ], "gene_names_uniprotkb": "CEP89; CCDC123", "gene_names_refseq": "CCDC123; CEP123; CEP89", "protein_names_uniprotkb": "Centrosomal protein of 89 kDa; Centrosomal protein 123; Cep123; Cep89; Coiled-coil domain-containing protein 123", "protein_names_refseq": "centrosomal protein 123; centrosomal protein 89kDa; centrosomal protein of 89 kDa; coiled-coil domain containing 123; coiled-coil domain-containing protein 123, mitochondrial", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762)", "pathway": " (hsa:84902); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "11237011;14654843;16357211;17574030;17646400;17719545;18037885;18694559;18801063;19004860;19081074;19690332;19940019;20230748;20308558;20399632;20558667;21273506;21399614;21422230;21548880;21565611;21620453;21725307;21792235;21976302;22179047;22433857;22653444;23141531;23141541;23253480;23348840;23400999;23530209;23575228;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24982133;25047611;25313408;25576301;25645385;26992070;27920218;28832583;28834231;28904123;29242379;29393594;29493099;29557506;30429286;30779550;31154438;31844290;32157095;32488085;32897882;32938616;33298915;33392160;33537174;33592498;33968037;33981976;34185709;35051231;35580925;36010968;36581221;37938771;39894887", "class_list": "", "function": "CEP89 proteins play an important role in mitochondrial metabolism, especially complex IV activity, and are required for neuronal and cognitive function across evolution., [RefSeq, PubMed]; Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B9EGA6;Q8N5J8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000922 spindle pole;GO:0005758 mitochondrial intermembrane space;GO:0005813 centrosome;GO:0005829 cytosol;GO:0031514 motile cilium", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0060271 cilium assembly;GO:0007005 mitochondrion organization;GO:1905515 non-motile cilium assembly;GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q96ST8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSY4-1", "uniprot_id": [ { "id": "CHCH5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSY4", "type": "external" } ], "mass": 12395.0, "length": 110, "protein_name": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 5", "gene_name": "CHCHD5", "organism": "Human", "refseq_name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform a", "refseq_ac": [ { "id": "NP_115685", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115685", "type": "external" } ], "gene_names_uniprotkb": "CHCHD5; C2orf9", "gene_names_refseq": "C2orf9; CHCHD5; CHTM1; MIC14; MIX14", "protein_names_uniprotkb": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 5", "protein_names_refseq": "coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform a; coiled-coil-helix-coiled-coil-helix domain-containing protein 5; mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:84269); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20593814;21750375;22842048;23041349;23597483;23811401;25315652;25892735;26697887;28832583;28893745;29371680;30315122;30410026;30429286;31221176;31844290;33633747;33936100;34357683", "class_list": "", "function": "CHTM1 is a novel metabolic marker that is important for the growth of tumorigenic cells under limiting nutrient supplies and thus, links cellular metabolism and tumorigenesis., [RefSeq, PubMed]; Molecular interactions guiding the protein recognition between Mia40 and the disulfide-reduced CHCHD5 and CHCHD7., [RefSeq, PubMed]; Study reports a novel function of CHTM1 via which CHTM1 alters lung cancer cell survival under metabolic-stress. For example, CHTM1 interacts with AIF1 and affects stress-induced cytosol/nuclear translocation of AIF1 as well as cell death. CHTM1 appears to mediate these effects by negatively regulating the p38 kinase. Also, CHTM1 is overexpressed in lung cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; There was a statistically significant association between rs3748024 and systolic blood pressure (SBP) under an additive model adjusted for age, gender and body mass index (BMI) after correction for multiple testing. The SNP was also significantly associated with BMI, obesity, and triglycerides. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q585T4;Q8N8C4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BSY4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZP6-1", "uniprot_id": [ { "id": "CHIA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZP6", "type": "external" } ], "mass": 52271.0, "length": 476, "protein_name": "Acidic mammalian chitinase", "gene_name": "CHIA", "organism": "Human", "refseq_name": "acidic mammalian chitinase isoform b", "refseq_ac": [ { "id": "NP_001035713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035713", "type": "external" } ], "gene_names_uniprotkb": "CHIA", "gene_names_refseq": "AMCASE; CHIA; CHIT2; TSA1902", "protein_names_uniprotkb": "Acidic mammalian chitinase; 3.2.1.14; AMCase; Lung-specific protein TSA1902", "protein_names_refseq": "acidic mammalian chitinase isoform b; acidic mammalian chitinase; lung-specific protein TSA1902", "tax_id": 9606, "disease": "invasive aspergillosis (Disease Ontology:DOID:0050073); sinusitis (Disease Ontology:DOID:0050127); silicosis (Disease Ontology:DOID:10325); cryptococcosis (Disease Ontology:DOID:12053); relapsing-remitting multiple sclerosis (Disease Ontology:DOID:2378); asthma (Disease Ontology:DOID:2841); neuromyelitis optica (Disease Ontology:DOID:8869)", "pathway": " (hsa:27159); (R-HSA-189085)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10548734;10769135;11085997;11237011;12547908;12692040;14616060;15192232;15299664;16584180;1697585;18824549;19241384;19342690;19435888;19955176;20356844;2452973;24715725;27702777;27977724;29233108;29557506;30117166;31154438;3227291;35051231;3800897;3897250;39894887;4737205;5104075;6466686;7487100;7836450;7906143;807575;8951031;9427547;9446624", "class_list": "glycogene;glycosylhydrolase", "function": "AMCase expression was significantly higher in helminths-infected patients than the noninfected, or protozoa infected., [RefSeq, PubMed]; Degrades chitin and chitotriose. May participate in the defense against nematodes, fungi and other pathogens. Plays a role in T-helper cell type 2 (Th2) immune response. Contributes to the response to IL-13 and inflammation in response to IL-13. Stimulates chemokine production by pulmonary epithelial cells. Protects lung epithelial cells against apoptosis and promotes phosphorylation of AKT1. Its function in the inflammatory response and in protecting cells against apoptosis is inhibited by allosamidin, suggesting that the function of this protein depends on carbohydrate binding., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Expressed in exaggerated quantities in human asthma, [RefSeq, PubMed]; Human AMCase has only one pH optimum for k(cat)/K(m) between pH 4 and 5. Steady state kinetics shows that human AMCase has 'low' intrinsic transglycosidase activity, which leads to the observation of apparent substrate inhibition., [RefSeq, PubMed]; Rs10494132 polymorphism of CHIA might be a risk factor for asthma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expression, and variations in this gene can lead to asthma susceptibility. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]; This is the first report on the association between low-frequency and common variants in the chitinases-related genes CHIA and CHI3L1 with the intensity of specific IgE to ABA-1 in a population naturally exposed to Ascaris and with Bet v 1 in a Swedish population. Publication Status: Online-Only, [RefSeq, PubMed]; We showed that M at the position 61 is highly conserved in the many mammals other than orangutan and humans. In addition, introduction of M61R and M61I to WT mouse AMCase lead to a significant reduction of its chitinolytic activity. Taken together, our present and previous data by Seibold et al. (2009) indicate that G339T (R61M) in humans is associated with asthma protection in the fashion of gain of function, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 717, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q32W79;Q32W80;Q3B866;Q5U5Z5;Q5VUV4;Q86UD8;Q9ULY3;Q9ULY4", "ec_number_list": [ { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" } ], "go_molecular_function": "GO:0019900 kinase binding;GO:0004568 chitinase activity;GO:0008843 endochitinase activity;GO:0008061 chitin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0006915 apoptotic process;GO:0032722 positive regulation of chemokine production;GO:0044245 polysaccharide digestion;GO:0000272 polysaccharide catabolic process;GO:0002532 production of molecular mediator involved in inflammatory response", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9BZP6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8X3-1", "uniprot_id": [ { "id": "CF208_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8X3", "type": "external" } ], "mass": 13648.0, "length": 128, "protein_name": "Putative uncharacterized protein LINC00574", "gene_name": "LINC00574", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LINC00574; C6orf208", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LINC00574", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "30379171", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q495C5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9H8X3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ32-1", "uniprot_id": [ { "id": "CK016_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ32", "type": "external" } ], "mass": 51609.0, "length": 467, "protein_name": "Uncharacterized protein C11orf16", "gene_name": "C11orf16", "organism": "Human", "refseq_name": "uncharacterized protein C11orf16", "refseq_ac": [ { "id": "NP_065694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065694", "type": "external" } ], "gene_names_uniprotkb": "C11orf16", "gene_names_refseq": "C11orf16", "protein_names_uniprotkb": "Uncharacterized protein C11orf16", "protein_names_refseq": "uncharacterized protein C11orf16", "tax_id": 9606, "disease": "", "pathway": " (hsa:56673)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;11528127;30379171;33141586;33592498;35051231", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53FB2;Q8N6Y9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9NQ32-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS84-1", "uniprot_id": [ { "id": "CHST7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS84", "type": "external" } ], "mass": 54266.0, "length": 486, "protein_name": "Carbohydrate sulfotransferase 7", "gene_name": "CHST7", "organism": "Human", "refseq_name": "carbohydrate sulfotransferase 7", "refseq_ac": [ { "id": "NP_063939", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_063939", "type": "external" } ], "gene_names_uniprotkb": "CHST7", "gene_names_refseq": "C6ST-2; CHST7; GST-5", "protein_names_uniprotkb": "Carbohydrate sulfotransferase 7; 2.8.2.-; 2.8.2.17; C6ST-2; Chondroitin 6-sulfotransferase 2; GST-5; Galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5; GlcNAc6ST-4; Gn6st-4; N-acetylglucosamine 6-O-sulfotransferase 4", "protein_names_refseq": "N-acetylglucosamine 6-O-sulfotransferase 4; carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7; carbohydrate sulfotransferase 7; chondroitin 6-sulfotransferase-2; galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 5; glcNAc6ST-4; gn6st-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:56548); (R-HSA-2022870)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;10187838;10781596;10781601;10913333;10956661;10963998;11056388;11139592;11514575;11788602;12080076;12145278;12163485;12761225;12874280;12907687;16335952;17227754;18316376;21129727;21129728;24275569;27599773;28832583;29242379;29514872;30315122;30815821;31844290;32350084;32938616;33592498;33912179;33936100;33968037;34171305;34357683;35954244;9883891", "class_list": "glycogene", "function": "CHST7 Methylation Status Related to the Proliferation and Differentiation of Pituitary Adenomas. Publication Status: Online-Only, [RefSeq, PubMed]; CHST7 methylation in white blood cells is positively associated with CRC risk, especially in females, and may potentially serve as a blood-based predictive biomarker for CRC risk., [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine (GlcNAc) residues. Preferentially acts on mannose-linked GlcNAc. Also able to catalyze the transfer of sulfate to position 6 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Also acts on core 2 mucin-type oligosaccharide and N-acetyllactosamine oligomer with a lower efficiency. Has weak or no activity toward keratan sulfate and oligosaccharides containing the Galbeta1-4GlcNAc. Catalyzes 6-O-sulfation of beta-benzyl GlcNAc but not alpha- or beta-benzyl GalNAc., [UniProtKB, PubMed, PubMed, PubMed]; This gene is a member of the Gal/GalNAc/GlcNAc (galactose/N-acetylgalactosamine/N-acetylglucosamine) 6-O-sulfotransferase (GST) family. Members of this family encode enzymes that catalyze the specific addition of sulfate groups to distinct hydroxyl and amino groups of carbohydrates. The encoded protein catalyzes the sulfation of 6-hydroxyl group of GalNAc in chondroitin. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 482, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "O75667", "ec_number_list": [ { "id": "2.8.2.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.17", "type": "external" }, { "id": "2.8.2.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.21", "type": "external" }, { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" } ], "go_molecular_function": "GO:0001517 N-acetylglucosamine 6-O-sulfotransferase activity;GO:0008459 chondroitin 6-sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0006044 N-acetylglucosamine metabolic process;GO:0006790 sulfur compound metabolic process;GO:0050650 chondroitin sulfate proteoglycan biosynthetic process;GO:0005976 polysaccharide metabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9NS84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKY3-1", "uniprot_id": [ { "id": "CES1P_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKY3", "type": "external" } ], "mass": 30679.0, "length": 287, "protein_name": "Putative inactive carboxylesterase 4", "gene_name": "CES1P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CES1P1; CES4", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative inactive carboxylesterase 4; Inactive carboxylesterase 1 pseudogene 1; PCE-3; Placental carboxylesterase 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "10452915;29557506;33392160", "class_list": "", "function": "Has no esterase activity., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2RRL8;B9ZVS2", "ec_number_list": [], "go_molecular_function": "GO:0052689 carboxylic ester hydrolase activity;GO:0050253 retinyl-palmitate esterase activity;GO:0106435 carboxylesterase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet", "go_biological_process": "GO:0009653 anatomical structure morphogenesis;GO:0019626 short-chain fatty acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9UKY3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y259-1", "uniprot_id": [ { "id": "CHKB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y259", "type": "external" } ], "mass": 45271.0, "length": 395, "protein_name": "Choline/ethanolamine kinase", "gene_name": "CHKB", "organism": "Human", "refseq_name": "choline/ethanolamine kinase", "refseq_ac": [ { "id": "NP_005189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005189", "type": "external" } ], "gene_names_uniprotkb": "CHKB; CHETK; CHKL", "gene_names_refseq": "CHETK; CHKB; CHKL; CKB; CKEKB; CK; EKB; EK; MDCMC", "protein_names_uniprotkb": "Choline/ethanolamine kinase; 2.7.1.32; 2.7.1.82; CKB; CKEKB; CK; Choline kinase beta; Choline kinase-like protein; EKB; EK; Ethanolamine kinase beta; Ethanolamine kinase; choline/ethanolamine kinase beta", "protein_names_refseq": "choline kinase-like protein; choline/ethanolamine kinase; ethanolamine kinase beta", "tax_id": 9606, "disease": "megaconial type congenital muscular dystrophy (Disease Ontology:DOID:0110632); intellectual disability (Disease Ontology:DOID:1059); microcephaly (Disease Ontology:DOID:10907); epilepsy (Disease Ontology:DOID:1826); recurrent hypersomnia (Disease Ontology:DOID:8619); narcolepsy (Disease Ontology:DOID:8986); muscular dystrophy (Disease Ontology:DOID:9884)", "pathway": " (hsa:1120); (R-HSA-1483191); (R-HSA-1483213)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10100195;10191259;10677542;10893425;10918069;11044454;11068039;11420179;11698453;12055623;12216837;12221122;14973250;15175005;15715662;15911624;17007874;17132865;17158099;17478478;17561512;17924679;18583706;18694939;19915674;20299452;20338778;21665002;21926997;22223895;22241472;22424782;22544926;22782513;23328280;23901139;24715725;24732803;24828044;24997086;25187204;26005868;26006750;26048993;26067811;26945070;27600516;28228285;28821867;28832583;29242379;29557506;29786170;30315122;30524438;3057511;31844290;32161166;32350084;32357974;32387766;32502341;32938616;33712684;33968037;33981976;34509645;35051231;36896673;37393748;37634314;38253038;9083101;9593753", "class_list": "", "function": "Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]., [RefSeq]; Frameshift mutations of immunomodulatory BTN2A1, BTN2A2, and BTNL3 genes in colon cancers., [RefSeq, PubMed]; Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis., [UniProtKB, PubMed, PubMed]; Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene., [RefSeq, PubMed]; Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients., [RefSeq, PubMed]; Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. Erratum:[J Hum Genet. 2021 Aug;66(8):841. doi: 10.1038/s10038-021-00920-2. PMID: 33767318], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0PJM6;Q13388", "ec_number_list": [ { "id": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004103 choline kinase activity;GO:0004305 ethanolamine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006657 CDP-choline pathway;GO:0006646 phosphatidylethanolamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9Y259-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y592-1", "uniprot_id": [ { "id": "CEP83_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y592", "type": "external" } ], "mass": 82940.0, "length": 701, "protein_name": "Centrosomal protein of 83 kDa", "gene_name": "CEP83", "organism": "Human", "refseq_name": "centrosomal protein of 83 kDa isoform a", "refseq_ac": [ { "id": "NP_001035858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035858", "type": "external" } ], "gene_names_uniprotkb": "CEP83; CCDC41", "gene_names_refseq": "CCDC41; CEP83; NPHP18; NY-REN-58", "protein_names_uniprotkb": "Centrosomal protein of 83 kDa; Cep83; Coiled-coil domain-containing protein 41; Renal carcinoma antigen NY-REN-58", "protein_names_refseq": "NY-REN-58 antigen; centrosomal protein of 83 kDa isoform a; centrosomal protein of 83 kDa; coiled-coil domain-containing protein 41; renal carcinoma antigen NY-REN-58", "tax_id": 9606, "disease": "nephronophthisis 18 (Disease Ontology:DOID:0111125)", "pathway": " (hsa:51134); (R-HSA-5620912)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10508479;11237011;16357211;17574030;17646400;17719545;18037885;18694559;18801063;19004860;19081074;19940019;20230748;20308558;20399632;20558667;21273506;21422230;21548880;21565611;21620453;21725307;21792235;22179047;22433857;22653444;23141531;23141541;23253480;23348840;23400999;23481700;23530209;23747070;23769972;23789104;24053599;24089205;24231678;24469809;24882706;24982133;25047611;25313408;26375851;26811146;26992070;28832583;29242379;29393594;29493099;29557506;30379171;30410026;31455668;32387766;32897882;32938616;33141586;33392160;33938610;36222666;36284347;39894887", "class_list": "", "function": "Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency., [RefSeq, PubMed]; CCDC41 is required for the docking of ciliary vesicles, [RefSeq, PubMed]; Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly., [UniProtKB, PubMed, PubMed]; The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a centriolar protein involved in primary cilium assembly. Defects in this gene have been associated with infantile nephronophthisis and intellectual disability. [provided by RefSeq, Oct 2016]., [RefSeq]; The results reveal a molecular mechanism of kinase regulation in ciliogenesis and identify CEP83 as a key substrate of TTBK2 during cilia initiation., [RefSeq, PubMed]; We have identified mutations in CEP83, another distal appendages component encoding gene, as a cause of infantile nephronophthisis associated with central nervous system abnormalities in half of the individuals., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FVB1;Q08AP1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005814 centriole;GO:0097539 ciliary transition fiber", "go_biological_process": "GO:0060271 cilium assembly;GO:0071539 protein localization to centrosome;GO:0048278 vesicle docking;GO:0051660 establishment of centrosome localization", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9Y592-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6W1-1", "uniprot_id": [ { "id": "A0A075B6W1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6W1", "type": "external" } ], "mass": 2371.0, "length": 20, "protein_name": "T cell receptor delta joining 3", "gene_name": "TRDJ3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRDJ3", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor delta joining 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A075B6W1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B7D8-1", "uniprot_id": [ { "id": "A0A075B7D8_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B7D8", "type": "external" } ], "mass": 13080.0, "length": 119, "protein_name": "Immunoglobulin heavy variable 3/OR15-7 (pseudogene)", "gene_name": "IGHV3OR15-7", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGHV3OR15-7", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin heavy variable 3/OR15-7 (pseudogene)", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "11237011;34561969;7964464", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0016064 immunoglobulin mediated immune response", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A075B7D8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A0MSY6-1", "uniprot_id": [ { "id": "A0A0A0MSY6_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A0MSY6", "type": "external" } ], "mass": 96282.0, "length": 830, "protein_name": "IQ motif containing with AAA domain 1", "gene_name": "", "organism": "Human", "refseq_name": "dynein regulatory complex subunit 11 isoform 3", "refseq_ac": [ { "id": "NP_001257514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257514", "type": "external" } ], "gene_names_uniprotkb": "", "gene_names_refseq": "4930465P12Rik; DRC11; IQCA1; IQCA", "protein_names_uniprotkb": "IQ motif containing with AAA domain 1", "protein_names_refseq": "IQ and AAA domain-containing protein 1; IQ motif containing with AAA domain 1; dynein regulatory complex protein 11; dynein regulatory complex subunit 11 isoform 3", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 7, "publication_id_list": "11237011;30429286;32157095;33968037;34087483;35580925;36241641", "class_list": "", "function": "The protein encoded by this gene is a member of the ATPases Associated with diverse cellular Activities (AAA) superfamily. Members of this superfamily, found in all organisms, participate in a large number of cellular processes and contain the ATPase module consisting of an alpha-beta-alpha core domain and the Walker A and B motifs of the P-loop NTPases. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A0A0A0MSY6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0G2JRQ6-1", "uniprot_id": [ { "id": "A0A0G2JRQ6_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0G2JRQ6", "type": "external" } ], "mass": 12748.0, "length": 117, "protein_name": "Ig-like domain-containing protein", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Ig-like domain-containing protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "35318648", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A0G2JRQ6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GU33-1", "uniprot_id": [ { "id": "TEX53_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GU33", "type": "external" } ], "mass": 8127.0, "length": 70, "protein_name": "Testis-expressed protein 53", "gene_name": "TEX53", "organism": "Human", "refseq_name": "testis-expressed protein 53", "refseq_ac": [ { "id": "NP_001341574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001341574", "type": "external" } ], "gene_names_uniprotkb": "TEX53", "gene_names_refseq": "TEX53", "protein_names_uniprotkb": "Testis-expressed protein 53", "protein_names_refseq": "testis-expressed protein 53", "tax_id": 9606, "disease": "", "pathway": " (hsa:105376230)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GU33-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A0MS02-1", "uniprot_id": [ { "id": "TRGV1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A0MS02", "type": "external" } ], "mass": 13248.0, "length": 117, "protein_name": "Probable non-functional T cell receptor gamma variable", "gene_name": "TRGV1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRGV1", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional T cell receptor gamma variable", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "23348415;24387714;24600447;25674089;28920588;9619395", "class_list": "", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of T cell receptor (TR) gamma chain (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive T cell receptor (TR) chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A0A0MS02-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTH6-1", "uniprot_id": [ { "id": "CS2IP_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTH6", "type": "external" } ], "mass": 81798.0, "length": 734, "protein_name": "Casein kinase II subunit alpha'-interacting protein", "gene_name": "CSNK2A2IP", "organism": "Human", "refseq_name": "casein kinase II subunit alpha'-interacting protein", "refseq_ac": [ { "id": "NP_001355094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001355094", "type": "external" } ], "gene_names_uniprotkb": "CSNK2A2IP; CSNKA2IP", "gene_names_refseq": "CSNK2A2IP; CSNKA2IP", "protein_names_uniprotkb": "Casein kinase II subunit alpha'-interacting protein; Casein kinase 2 alpha prime interacting protein", "protein_names_refseq": "casein kinase 2 alpha prime interacting protein; casein kinase II subunit alpha'-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:111064647)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "May play a role in chromatin regulation of male germ cells., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GTH6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NNX1-1", "uniprot_id": [ { "id": "TUFT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NNX1", "type": "external" } ], "mass": 44264.0, "length": 390, "protein_name": "Tuftelin", "gene_name": "TUFT1", "organism": "Human", "refseq_name": "tuftelin isoform 2", "refseq_ac": [ { "id": "NP_001119809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119809", "type": "external" } ], "gene_names_uniprotkb": "TUFT1", "gene_names_refseq": "TUFT1; WHSF", "protein_names_uniprotkb": "Tuftelin", "protein_names_refseq": "tuftelin isoform 2", "tax_id": 9606, "disease": "palmoplantar keratosis (Disease Ontology:DOID:3390); woolly hair-skin fragility syndrome (MONDO:MONDO:0957307)", "pathway": " (hsa:7286)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11230166;11237011;11733143;12489194;1874744;18991276;25576301;26154972;26811146;26992070;27920218;29242379;29331515;29557506;29786170;30779550;31844290;32157095;32161166;32938616;32983136;33592498;33912179;33968037;33981976;34171305;35051231;35318648;35580925;36284347;36689522;37716648;37986103;38514264;38650156;7919663", "class_list": "", "function": "Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma., [RefSeq, PubMed]; Involved in the structural organization of the epidermis (PubMed:36689522). Involved in the mineralization and structural organization of enamel., [UniProtKB, UniProtKB, PubMed]; M6A modified BACE1-AS contributes to liver metastasis and stemness-like properties in colorectal cancer through TUFT1 dependent activation of Wnt signaling. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-4319 targets tuftelin 1 to reduce malignancy of cervical cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; The human tuftelin gene and the expression of tuftelin in mineralizing and nonmineralizing tissues. Review. Review article, [RefSeq, PubMed]; Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]., [RefSeq]; [Overexpression of tuftelin and KLF-5 and its clinicopathological features in hepatitis B virus-related hepatocellular carcinoma]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD57;D3DV21;D3DV22;Q5T384;Q5T385;Q9BU28;Q9H5L1", "ec_number_list": [], "go_molecular_function": "GO:0030345 structural constituent of tooth enamel;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0031674 I band;GO:0005665 RNA polymerase II, core complex", "go_biological_process": "GO:0042476 odontogenesis;GO:0030282 bone mineralization", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NNX1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99689-1", "uniprot_id": [ { "id": "FEZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99689", "type": "external" } ], "mass": 45119.0, "length": 392, "protein_name": "Fasciculation and elongation protein zeta-1", "gene_name": "FEZ1", "organism": "Human", "refseq_name": "fasciculation and elongation protein zeta-1 isoform 1", "refseq_ac": [ { "id": "NP_005094", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005094", "type": "external" } ], "gene_names_uniprotkb": "FEZ1", "gene_names_refseq": "FEZ1; UNC-76", "protein_names_uniprotkb": "Fasciculation and elongation protein zeta-1; Zygin I; Zygin-1", "protein_names_refseq": "fasciculation and elongation protein zeta-1 isoform 1; zygin I; zygin-1", "tax_id": 9606, "disease": "Jacobsen Syndrome (Disease Ontology:DOID:0111723); Parkinson's disease (Disease Ontology:DOID:14330); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:9638)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;11856312;12874605;15466860;16484223;18439996;20812761;22354037;24098481;24715725;26375851;27247180;28832583;29242379;29508533;29557506;31154438;31844290;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33395696;34171305;35051231;35172151;37219433;37938771;9096408", "class_list": "", "function": "FEZ1 Plays Dual Roles in Early HIV-1 Infection by Independently Regulating Capsid Transport and Host Interferon-Stimulated Gene Expression., [RefSeq, PubMed]; FEZ1 is an interacting partner of DISC1. The interaction of DISC1 and FEZ1 is associated with direct FEZ1 binding to F-actin., [RefSeq, PubMed]; FEZ1 phosphorylation regulates HSPA8 localization and interferon-stimulated gene expression., [RefSeq, PubMed]; Interacts with NBR1 protein, [RefSeq, PubMed]; Loss of FEZ1, a gene deleted in Jacobsen syndrome, causes locomotion defects and early mortality by impairing motor neuron development., [RefSeq, PubMed]; May be involved in axonal outgrowth as component of the network of molecules that regulate cellular morphology and axon guidance machinery. Able to restore partial locomotion and axonal fasciculation to C.elegans unc-76 mutants in germline transformation experiments. May participate in the transport of mitochondria and other cargos along microtubules., [UniProtKB, PubMed, PubMed]; This gene is an ortholog of the C. elegans unc-76 gene, which is necessary for normal axonal bundling and elongation within axon bundles. Expression of this gene in C. elegans unc-76 mutants can restore to the mutants partial locomotion and axonal fasciculation, suggesting that it also functions in axonal outgrowth. The N-terminal half of the gene product is highly acidic. Alternatively spliced transcript variants encoding different isoforms of this protein have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O00679;O00728;Q6IBI7", "ec_number_list": [], "go_molecular_function": "GO:0005080 protein kinase C binding;GO:0043015 gamma-tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005874 microtubule;GO:0005886 plasma membrane", "go_biological_process": "GO:1902902 negative regulation of autophagosome assembly;GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0010976 positive regulation of neuron projection development;GO:0021766 hippocampus development", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q99689-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPN4-1", "uniprot_id": [ { "id": "CP131_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPN4", "type": "external" } ], "mass": 122149.0, "length": 1083, "protein_name": "Centrosomal protein of 131 kDa", "gene_name": "CEP131", "organism": "Human", "refseq_name": "centrosomal protein of 131 kDa isoform b", "refseq_ac": [ { "id": "NP_001009811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009811", "type": "external" } ], "gene_names_uniprotkb": "CEP131; AZI1; KIAA1118", "gene_names_refseq": "AZ1; AZI1; CEP131; ZA1", "protein_names_uniprotkb": "Centrosomal protein of 131 kDa; 5-azacytidine-induced protein 1; Pre-acrosome localization protein 1", "protein_names_refseq": "5-azacytidine induced 1; 5-azacytidine-induced protein 1; centrosomal protein 131 kDa; centrosomal protein 131kDa; centrosomal protein of 131 kDa isoform b; centrosomal protein of 131 kDa; pre-acrosome localization protein 1", "tax_id": 9606, "disease": "Bardet-Biedl syndrome (Disease Ontology:DOID:1935)", "pathway": " (hsa:22994); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-8854518)", "pathway_count": 8, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;11076968;11237011;11956313;12207013;12221128;12364337;12852856;13678582;14580337;14654843;15498487;15705883;16357211;16462731;16890155;16964243;17081983;17574030;17646400;17719545;17954613;18037885;18378770;18477460;18521620;18566290;18615013;18669648;18694559;18801063;19004860;19081074;19369195;19690332;19940019;20230748;20308558;20399632;20558667;21273506;21347367;21406692;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22641346;22653444;22797915;23137637;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24121310;24185901;24231678;24469809;24550735;24982133;25047611;25313408;25532896;25576301;26297806;26616734;27224062;27600516;28467828;29242379;29314611;29508533;29557506;29632046;29932434;30266825;30429286;30538148;30538195;30804208;31358734;31789463;32350084;32488085;32502341;32938616;32983136;33402344;33592498;33936100;34087483;34357683;34561969;34932366;35051231;35154160;35254053;35494241;35580925;36008383;36010968;37963851;7769006;7790358;8838651", "class_list": "", "function": "Component of centriolar satellites contributing to the building of a complex and dynamic network required to regulate cilia/flagellum formation (PubMed:17954613, PubMed:24185901). In proliferating cells, MIB1-mediated ubiquitination induces its sequestration within centriolar satellites, precluding untimely cilia formation initiation (PubMed:24121310). In contrast, during normal and ultraviolet or heat shock cellular stress-induced ciliogenesis, its non-ubiquitinated form is rapidly displaced from centriolar satellites and recruited to centrosome/basal bodies in a microtubule- and p38 MAPK-dependent manner (PubMed:24121310, PubMed:26616734). Also acts as a negative regulator of BBSome ciliary trafficking (PubMed:24550735). Plays a role in sperm flagellar formation; may be involved in the regulation of intraflagellar transport (IFT) and/or intramanchette (IMT) trafficking, which are important for axoneme extension and/or cargo delivery to the nascent sperm tail (By similarity). Required for optimal cell proliferation and cell cycle progression; may play a role in the regulation of genome stability in non-ciliogenic cells (PubMed:22797915, PubMed:26297806). Involved in centriole duplication (By similarity). Required for CEP152, WDR62 and CEP63 centrosomal localization and promotes the centrosomal localization of CDK2 (PubMed:26297806). Essential for maintaining proper centriolar satellite integrity (PubMed:30804208)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Hepatic ARID3A facilitates liver cancer malignancy by cooperating with CEP131 to regulate an embryonic stem cell-like gene signature. Publication Status: Online-Only, [RefSeq, PubMed]; PLK4 phosphorylates CEP131 at Ser-78 to maintain centriolar satellite integrity., [RefSeq, PubMed]; RNA of AZI1 functions as the 'initiator' RNA to induce TMPRSS2-ERG fusion., [RefSeq, PubMed]; These findings demonstrate that Cep131 is a novel substrate of Plk4, and that phosphorylation or dysregulated Cep131 overexpression promotes Plk4 stabilization and therefore centrosome amplification, establishing a perspective in understanding a relationship between centrosome amplification and cancer development. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 16, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NHI8;B2RN11;Q96F50", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0001669 acrosomal vesicle;GO:0005814 centriole", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0007283 spermatogenesis;GO:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0090316 positive regulation of intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q9UPN4-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB03-1", "uniprot_id": [ { "id": "CX038_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB03", "type": "external" } ], "mass": 36670.0, "length": 319, "protein_name": "Uncharacterized protein CXorf38", "gene_name": "CXorf38", "organism": "Human", "refseq_name": "uncharacterized protein CXorf38 isoform 2", "refseq_ac": [ { "id": "NP_001317384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317384", "type": "external" } ], "gene_names_uniprotkb": "CXorf38", "gene_names_refseq": "CXorf38", "protein_names_uniprotkb": "Uncharacterized protein CXorf38", "protein_names_refseq": "uncharacterized protein CXorf38 isoform 2; uncharacterized protein CXorf38", "tax_id": 9606, "disease": "", "pathway": " (hsa:159013)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "17081983;17322306;18669648;18691976;19664995;22544926;23186163;23301498;23481700;24366607;24715725;25418920;26154972;26375851;26992070;27846572;27920218;28218747;28228285;28510447;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30524438;31092671;31530632;31844290;31848261;31998317;32157095;32387766;32502341;32897882;32938616;32983136;33141586;33392160;33592498;33717175;33936100;33968037;33981976;34185709;34509645;34561969;35051231;35318648;35580925;36010968;36284347", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KW28;D3DWB5;Q5JPF5;Q8N941", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q8TB03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXN4-1", "uniprot_id": [ { "id": "GDAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXN4", "type": "external" } ], "mass": 56225.0, "length": 497, "protein_name": "Ganglioside-induced differentiation-associated protein 2", "gene_name": "GDAP2", "organism": "Human", "refseq_name": "ganglioside-induced differentiation-associated protein 2 isoform b", "refseq_ac": [ { "id": "NP_001129061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129061", "type": "external" } ], "gene_names_uniprotkb": "GDAP2", "gene_names_refseq": "GDAP2; MACROD3; SCAR27", "protein_names_uniprotkb": "Ganglioside-induced differentiation-associated protein 2", "protein_names_refseq": "ganglioside-induced differentiation-associated protein 2 isoform b", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 27 (Disease Ontology:DOID:0111616)", "pathway": " (hsa:54834)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "23481700;24275569;24397554;25418920;25576301;25645385;25880248;25892735;26154972;26811146;26992070;27397612;27893789;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29557506;29769354;29786170;30084953;30315122;30410026;30429286;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33912179;33968037;34087483;34357683;34561969;34932366;35051231;35318648;35580925", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96DZ0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005765 lysosomal membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9NXN4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBY9-1", "uniprot_id": [ { "id": "HSPB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBY9", "type": "external" } ], "mass": 18611.0, "length": 170, "protein_name": "Heat shock protein beta-7", "gene_name": "HSPB7", "organism": "Human", "refseq_name": "heat shock protein beta-7 isoform 2", "refseq_ac": [ { "id": "NP_055239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055239", "type": "external" } ], "gene_names_uniprotkb": "HSPB7; CVHSP", "gene_names_refseq": "HSPB7; cvHSP", "protein_names_uniprotkb": "Heat shock protein beta-7; Cardiovascular heat shock protein; HspB7; cvHsp", "protein_names_refseq": "cardiovascular heat shock protein; heat shock 27kD protein family, member 7 (cardiovascular); heat shock 27kDa protein family, member 7 (cardiovascular); heat shock protein beta-7 isoform 2; heat shock protein beta-7", "tax_id": 9606, "disease": "heart disease (Disease Ontology:DOID:114)", "pathway": " (hsa:27129)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10593960;11237011;19464326;20038796;20124441;28832583;29393594;32983136;33097082;33827396;35051231;35580925;35977674;36284347;37170285;37732539", "class_list": "", "function": "Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease., [RefSeq, PubMed]; Cardio-Vascular Heat Shock Protein (cvHsp, HspB7), an Unusual Representative of Small Heat Shock Protein Family. Review article, [RefSeq, PubMed]; HSPB7 constitutively localized to SC35 splicing speckles, driven by its N-terminus. Unlike HSPB1 and HSPB5, that chaperoned heat unfolded substrates and kept them folding competent, HSPB7 did not support refolding. Erratum:[Biochim Biophys Acta. 2009 Dec;1793(12):1929-30], [RefSeq, PubMed]; HSPB7 oppositely regulates human mesenchymal stromal cell-derived osteogenesis and adipogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; HSPB7 regulates osteogenic differentiation of human adipose derived stem cells via ERK signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Heat shock protein B7 (HSPB7) inhibits lung adenocarcinoma progression by inhibiting glycolysis., [RefSeq, PubMed]; Is the small heat shock protein HSPB7 (cvHsp) a genuine actin-binding protein?, [RefSeq, PubMed]; The rs1738943 shows that although this SNP is located within HSPB7, it resides in a block of high LD that spans HSPB7 and a nearby gene, CLCNKA, which encodes a voltage-sensitive chloride channel expressed mainly in the kidney., [RefSeq, PubMed]; This gene encodes a small heat shock family B member that can heterodimerize with similar heat shock proteins. Defects in this gene are associated with advanced heart failure. In addition, the encoded protein may be a tumor suppressor in the p53 pathway, with defects in this gene being associated with renal cell carcinoma. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ37;C9K0Y0;Q9NU17", "ec_number_list": [], "go_molecular_function": "GO:0031005 filamin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0015629 actin cytoskeleton;GO:0015030 Cajal body", "go_biological_process": "GO:0007507 heart development;GO:0008016 regulation of heart contraction;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9UBY9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IZ5-1", "uniprot_id": [ { "id": "RBM41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IZ5", "type": "external" } ], "mass": 47100.0, "length": 413, "protein_name": "RNA-binding protein 41", "gene_name": "RBM41", "organism": "Human", "refseq_name": "RNA-binding protein 41 isoform 2", "refseq_ac": [ { "id": "NP_001164551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164551", "type": "external" } ], "gene_names_uniprotkb": "RBM41", "gene_names_refseq": "RBM41", "protein_names_uniprotkb": "RNA-binding protein 41; RNA-binding motif protein 41", "protein_names_refseq": "RNA-binding protein 41 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55285)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;18669648;23481700;24715725;25418920;26811146;26992070;28904123;29437277;29493099;29557506;30315122;30379171;30410026;31530632;31844290;31848261;32157095;32161166;32938616;32983136;33392160;33633747;33968037;40596516", "class_list": "", "function": "May bind RNA., [UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5JSN7;Q5JSN8;Q9H8F7;Q9NV04", "ec_number_list": [], "go_molecular_function": "GO:0097157 pre-mRNA intronic binding;GO:0030626 U12 snRNA binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005689 U12-type spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q96IZ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBF2-1", "uniprot_id": [ { "id": "NHLC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBF2", "type": "external" } ], "mass": 79444.0, "length": 726, "protein_name": "NHL repeat-containing protein 2", "gene_name": "NHLRC2", "organism": "Human", "refseq_name": "NHL repeat-containing protein 2", "refseq_ac": [ { "id": "NP_940916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940916", "type": "external" } ], "gene_names_uniprotkb": "NHLRC2", "gene_names_refseq": "FINCA; NHLRC2", "protein_names_uniprotkb": "NHL repeat-containing protein 2", "protein_names_refseq": "1200003G01Rik; NHL repeat-containing protein 2; novel NHL repeat domain containing protein", "tax_id": 9606, "disease": "fibrosis, neurodegeneration, and cerebral angiomatosis (MONDO:MONDO:0032651)", "pathway": " (hsa:374354); (R-HSA-114608)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "1435334;14630798;15297306;16385451;17924679;18083107;20068231;23301498;23640497;25576301;27862975;28510447;28904123;29242562;29423877;29557506;30138417;30239752;30429286;31844290;32157095;32350084;32357974;32387766;32435055;32897882;32938616;33298915;33592498;33912179;33968037;33981976;34019948;34087483;34171305;34509645;35051231;35132862;35251023;35964085;36215666;36241641;37188825;38253038;40307207;40914422;6457647;8467233", "class_list": "", "function": "Bioinformatics analysis discovers homologs across a range of eukaryotic and prokaryotic species and conserved residues map mostly to the adjacent surfaces of the Trx-like and beta-propeller domains that form the cleft, suggesting both that this forms the potential functional site of NHLRC2 and that the function is conserved across species. Publication Status: Online-Only, [RefSeq, PubMed]; Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals., [RefSeq, PubMed]; NHLRC2 expression is increased in idiopathic pulmonary fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Reactive oxygen species-induced cleavage of NHLRC2 by caspase-8 leads to apoptotic cell death in the HCT116 human colon cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Required for normal embryonic development., [UniProtKB, UniProtKB]; Study identified a novel cerebropulmonary and multi-organ disease characterised by a unique combination of tissue fibrosis, neurodegeneration and cerebral angiomatosis, and identified identical compound heterozygous NHLRC2 variants in three affected children from two unrelated families. Also created a KO mouse model and zebrafish morphants to investigate the consequences of absent or decreased Nhlrc2 expression., [RefSeq, PubMed]; We conclude that compound heterozygous p.Asp148Tyr and p.Arg201GlyfsTer6 mutations in NHLRC2 lead to severe tissue fibrosis in humans by enhancing the differentiation of fibroblasts to myofibroblasts., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N1H1;Q8N5A6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0031093 platelet alpha granule lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q8NBF2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDQ0-1", "uniprot_id": [ { "id": "HAVR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDQ0", "type": "external" } ], "mass": 33394.0, "length": 301, "protein_name": "Hepatitis A virus cellular receptor 2", "gene_name": "HAVCR2", "organism": "Human", "refseq_name": "hepatitis A virus cellular receptor 2 precursor", "refseq_ac": [ { "id": "NP_116171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116171", "type": "external" } ], "gene_names_uniprotkb": "HAVCR2; TIM3; TIMD3", "gene_names_refseq": "CD366; HAVCR2; HAVcr-2; KIM-3; SPTCL; TIM3; TIMD-3; TIMD3; Tim-3", "protein_names_uniprotkb": "Hepatitis A virus cellular receptor 2; HAVcr-2; T-cell immunoglobulin and mucin domain-containing protein 3; T-cell immunoglobulin mucin receptor 3; T-cell membrane protein 3; TIM-3; TIMD-3", "protein_names_refseq": "T cell immunoglobulin mucin 3; T-cell immunoglobulin and mucin domain 3; T-cell immunoglobulin and mucin domain-containing protein 3; T-cell immunoglobulin mucin family member 3; T-cell immunoglobulin mucin receptor 3; T-cell membrane protein 3; hepatitis A virus cellular receptor 2 precursor; kidney injury molecule-3", "tax_id": 9606, "disease": "subcutaneous panniculitis-like T-cell lymphoma (Disease Ontology:DOID:0070662); cystic fibrosis (Disease Ontology:DOID:1485); transient cerebral ischemia (Disease Ontology:DOID:224); pulmonary tuberculosis (Disease Ontology:DOID:2957); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:84868); (R-HSA-451927)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11237011;11823861;14556005;15325803;16286920;17069754;18006747;19001139;19587053;20083673;22171320;22323453;22383801;23555261;23967307;24337741;24825777;24838857;26492563;28904123;29557506;29774024;30374066;30459171;30792187;31844290;32022078;32265295;32983136;33043033;33912179;35051231;35580925;38253038;39080376;39123087;39206199;39456930;39546589", "class_list": "", "function": "Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may be influenced by the cellular context and/or the respective ligand (PubMed:24825777). Regulates macrophage activation (PubMed:11823861). Inhibits T-helper type 1 lymphocyte (Th1)-mediated auto- and alloimmune responses and promotes immunological tolerance (PubMed:14556005). In CD8+ cells attenuates TCR-induced signaling, specifically by blocking NF-kappaB and NFAT promoter activities resulting in the loss of IL-2 secretion. The function may implicate its association with LCK proposed to impair phosphorylation of TCR subunits, and/or LGALS9-dependent recruitment of PTPRC to the immunological synapse (PubMed:24337741, PubMed:26492563). In contrast, shown to activate TCR-induced signaling in T-cells probably implicating ZAP70, LCP2, LCK and FYN (By similarity). Expressed on Treg cells can inhibit Th17 cell responses (PubMed:24838857). Receptor for LGALS9 (PubMed:16286920, PubMed:24337741). Binding to LGALS9 is believed to result in suppression of T-cell responses; the resulting apoptosis of antigen-specific cells may implicate HAVCR2 phosphorylation and disruption of its association with BAG6. Binding to LGALS9 is proposed to be involved in innate immune response to intracellular pathogens. Expressed on Th1 cells interacts with LGALS9 expressed on Mycobacterium tuberculosis-infected macrophages to stimulate antibactericidal activity including IL-1 beta secretion and to restrict intracellular bacterial growth (By similarity). However, the function as receptor for LGALS9 has been challenged (PubMed:23555261). Also reported to enhance CD8+ T-cell responses to an acute infection such as by Listeria monocytogenes (By similarity). Receptor for phosphatidylserine (PtSer); PtSer-binding is calcium-dependent. May recognize PtSer on apoptotic cells leading to their phagocytosis. Mediates the engulfment of apoptotic cells by dendritic cells. Expressed on T-cells, promotes conjugation but not engulfment of apoptotic cells. Expressed on dendritic cells (DCs) positively regulates innate immune response and in synergy with Toll-like receptors promotes secretion of TNF. In tumor-infiltrating DCs suppresses nucleic acid-mediated innate immune repsonse by interaction with HMGB1 and interfering with nucleic acid-sensing and trafficking of nucleid acids to endosomes (By similarity). Expressed on natural killer (NK) cells and acts as a coreceptor to enhance IFN-gamma production in response to LGALS9 (PubMed:22323453). In contrast, shown to suppress NK cell-mediated cytotoxicity (PubMed:22383801). Negatively regulates NK cell function in LPS-induced endotoxic shock (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Inhibitory Checkpoint Receptor TIM-3 as a Regulator of the Functional Activity of Dendritic Cells. Review article, [RefSeq, PubMed]; Role of TIM-3 in ovarian cancer: the forsaken cop or a new noble. Review article Publication Status: Online-Only, [RefSeq, PubMed]; T-Cell Immunoglobulin and Mucin Domain 3 (TIM-3) Gene Expression as a Negative Biomarker of B-Cell Acute Lymphoblastic Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; TOX2 nuclear-cytosol translocation is linked to leukemogenesis of acute T-cell leukemia by repressing TIM3 transcription., [RefSeq, PubMed]; The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]., [RefSeq]; Tim-3 gene associated with rheumatoid arthritis GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RAY2;Q8WW60;Q96K94", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0001772 immunological synapse;GO:0016592 mediator complex", "go_biological_process": "GO:0043032 positive regulation of macrophage activation;GO:0032703 negative regulation of interleukin-2 production;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006954 inflammatory response;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8TDQ0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GY3-1", "uniprot_id": [ { "id": "LIN37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GY3", "type": "external" } ], "mass": 28383.0, "length": 246, "protein_name": "Protein lin-37 homolog", "gene_name": "LIN37", "organism": "Human", "refseq_name": "protein lin-37 homolog isoform 1", "refseq_ac": [ { "id": "NP_061977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061977", "type": "external" } ], "gene_names_uniprotkb": "LIN37; MSTP064", "gene_names_refseq": "F25965; LIN37; ZK418.4; lin-37", "protein_names_uniprotkb": "Protein lin-37 homolog; Antolefinin", "protein_names_refseq": "antolefinin; protein F25965; protein lin-37 homolog isoform 1; protein lin-37 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55957); (R-HSA-1362277); (R-HSA-1362300); (R-HSA-1538133); (R-HSA-156711); (R-HSA-69202); (R-HSA-69205); (R-HSA-69656)", "pathway_count": 8, "publication_count": 84, "publication_id_list": "10228158;10323868;10375532;10454565;10454584;10597240;10692433;11231585;11237011;11585773;11897663;11907280;11959842;11988738;12730199;12738781;12782299;1312467;1396589;14990995;15014447;15037762;15070733;15510213;15654331;16582612;17081983;17531812;17671431;18220336;18452278;18669648;18691976;19160488;19690332;20068231;21498570;22391450;23109430;23240008;23301498;28832583;29393594;29557506;29786170;30779550;31400114;31844290;32387766;32488085;32938616;32983136;33141586;33592498;33717175;33968037;34019948;34171305;34405274;34509645;35051231;35580925;36241641;7623816;7629134;7743995;7799941;7929342;8050359;8114698;8288595;8618861;8700224;8703070;8943353;9020173;9199292;9482921;9520412;9632134;9662327;9724731;9778043;9891042", "class_list": "", "function": "Abrogation of DREAM function by knockout of the DREAM component LIN37 results in a reduced repression of cell-cycle genes., [RefSeq, PubMed]; This gene encodes a protein expressed in the eye. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KAQ1;O14557;Q7Z2T9", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex;GO:0031523 Myb complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q96GY3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVK2-1", "uniprot_id": [ { "id": "SNR27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVK2", "type": "external" } ], "mass": 18860.0, "length": 155, "protein_name": "U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein", "gene_name": "SNRNP27", "organism": "Human", "refseq_name": "U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein", "refseq_ac": [ { "id": "NP_006848", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006848", "type": "external" } ], "gene_names_uniprotkb": "SNRNP27", "gene_names_refseq": "27K; RY1; SNRNP27", "protein_names_uniprotkb": "U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein; 27K; Nucleic acid-binding protein RY-1; U4/U6.U5 snRNP 27 kDa protein; U4/U6.U5 tri-snRNP-associated 27 kDa protein; U4/U6.U5 tri-snRNP-associated protein 3; U4/U6.U5-27K", "protein_names_refseq": "U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein; U4/U6.U5 tri-snRNP-associated 27 kDa protein; U4/U6.U5 tri-snRNP-associated protein 3; U4/U6.U5-27K; putative nucleic acid binding protein RY-1; small nuclear ribonucleoprotein 27kDa (U4/U6.U5); small nuclear ribonucleoprotein, U4/U6.U5 27kDa subunit", "tax_id": 9606, "disease": "", "pathway": " (hsa:11017); (R-HSA-72163)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10882114;11014198;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;16314458;16809785;17081983;17095540;17332742;17525332;17606899;18322460;18593880;18669648;19103666;19165350;19536130;19651622;20068231;20423332;20980672;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23345524;24196718;24304693;24448447;24737827;24914973;25555158;2558966;26385511;26420826;26969736;26992070;27377154;27459055;27683217;28062851;28076346;28502770;28781166;29301961;29360106;29361316;2963332;30315277;30705154;30728453;30765414;30975767;31409651;31844290;32157095;32179686;32329775;32494006;33243851;33446560;33592498;33968037;34301950;34822310;35385551;37217939;3757028;37938771;39894887;7931148;8566756;8608946;9016565;9085842;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "May play a role in mRNA splicing., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a serine/arginine-rich (SR) protein. SR proteins play important roles in pre-mRNA splicing by facilitating the recognition and selection of splice sites. The encoded protein associates with the 25S U4/U6.U5 tri-snRNP, a major component of the U2-type spiceosome. The expression of this gene may be altered in cells infected with the human T-cell lymphotropic virus type 1 (HTLV-1) retrovirus. A pseudogene of this gene is located on the long arm of chromosome 5. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q15410", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q8WVK2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ04-1", "uniprot_id": [ { "id": "TSYL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ04", "type": "external" } ], "mass": 45126.0, "length": 414, "protein_name": "Testis-specific Y-encoded-like protein 4", "gene_name": "TSPYL4", "organism": "Human", "refseq_name": "testis-specific Y-encoded-like protein 4", "refseq_ac": [ { "id": "NP_067680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067680", "type": "external" } ], "gene_names_uniprotkb": "TSPYL4; KIAA0721", "gene_names_refseq": "TSPYL4; dJ486I3.2", "protein_names_uniprotkb": "Testis-specific Y-encoded-like protein 4; TSPY-like protein 4", "protein_names_refseq": "TSPY-like protein 4; testis-specific Y-encoded-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:23270)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "21993680;23481700;25418920;25892735;27920218;28063628;28218747;28228285;28649982;28832583;29242379;29393594;29437277;29493099;29557506;29632046;30315122;30410026;30429286;30779550;31154438;31844290;32502341;32938616;33592498;33691108;33912179;33968037;33981976;34087483;34932366;35051231;36010968;37938771", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DYQ2;O94828;Q96GW8", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006334 nucleosome assembly", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9UJ04-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVT2-1", "uniprot_id": [ { "id": "MISP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVT2", "type": "external" } ], "mass": 75357.0, "length": 679, "protein_name": "Mitotic interactor and substrate of PLK1", "gene_name": "MISP", "organism": "Human", "refseq_name": "mitotic interactor and substrate of PLK1", "refseq_ac": [ { "id": "NP_775752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775752", "type": "external" } ], "gene_names_uniprotkb": "MISP; C19orf21", "gene_names_refseq": "C19orf21; MISP1; MISP", "protein_names_uniprotkb": "Mitotic interactor and substrate of PLK1; Mitotic spindle positioning protein", "protein_names_refseq": "caprice; mitotic interactor and substrate of PLK1; mitotic spindle positioning protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:126353)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "16083285;16565220;17081983;17924679;18212344;18220336;18452278;18491316;18669648;18691976;18767875;19007248;19415658;19651622;19691289;20058876;20068231;23186163;23509069;23574715;24475924;25576301;27397612;27862975;29242379;29393594;29557506;29789417;30059200;30379171;30484775;30779550;30833945;31154438;31848261;32161166;32938616;33465208;33968037;33981976;34023777;34087483;34171305;35051231;35083852;35254053;35318648;35580925;36215666;36241641;36284347;38057358;38330117;38588808;38785491;40596516", "class_list": "", "function": "MISP Is Overexpressed in Intestinal Metaplasia and Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MISP is an effector for cell type-specific actin reorganization with its direct actin-binding properties and provides a novel model of cell morphology regulation by a non-ubiquitous single actin-bundling protein. GeneRIF: Bundles F-actin and balances stress fiber-filopodial formation, [RefSeq, PubMed]; MISP links microtubules to the actin cytoskeleton and focal adhesions in order to properly position the mitotic spindle., [RefSeq, PubMed]; Mitotic spindle positioning protein (MISP) preferentially binds to aged F-actin., [RefSeq, PubMed]; Modulation of actin-binding and -bundling activities of MISP/Caprice by multiple phosphorylation., [RefSeq, PubMed]; PLK1 and its substrate MISP facilitate intrahepatic cholangiocarcinoma progression by promoting lymphatic invasion and impairing E-cadherin adherens junctions., [RefSeq, PubMed]; Plants distinguish different photoperiods to independently control seasonal flowering and growth., [RefSeq, PubMed]; Plays a role in mitotic spindle orientation and mitotic progression. Regulates the distribution of dynactin at the cell cortex in a PLK1-dependent manner, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning. May link microtubules to the actin cytospkeleton and focal adhesions. May be required for directed cell migration and centrosome orientation. May also be necessary for proper stacking of the Golgi apparatus., [UniProtKB, PubMed, PubMed]; Plk1 phosphorylates MISP, thus stabilizing cortical and astral microtubule attachments required for proper mitotic spindle positioning., [RefSeq, PubMed]; The protein encoded by this gene is an actin-bundling protein involved in determining cell morphology and mitotic progression. The encoded protein is required for the proper positioning of the mitotic spindle. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 46, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0005938 cell cortex;GO:0031616 spindle pole centrosome", "go_biological_process": "GO:0016477 cell migration;GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0030866 cortical actin cytoskeleton organization;GO:0000132 establishment of mitotic spindle orientation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q8IVT2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z698-1", "uniprot_id": [ { "id": "SPRE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z698", "type": "external" } ], "mass": 47558.0, "length": 418, "protein_name": "Sprouty-related, EVH1 domain-containing protein 2", "gene_name": "SPRED2", "organism": "Human", "refseq_name": "sprouty-related, EVH1 domain-containing protein 2 isoform b", "refseq_ac": [ { "id": "NP_001121682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121682", "type": "external" } ], "gene_names_uniprotkb": "SPRED2", "gene_names_refseq": "NS14; SPRED2; Spred-2", "protein_names_uniprotkb": "Sprouty-related, EVH1 domain-containing protein 2; Spred-2", "protein_names_refseq": "sprouty protein with EVH-1 domain 2, related sequence; sprouty-related, EVH1 domain-containing protein 2 isoform b; sprouty-related, EVH1 domain-containing protein 2", "tax_id": 9606, "disease": "Noonan syndrome (Disease Ontology:DOID:3490); achondroplasia (Disease Ontology:DOID:4480); Noonan syndrome 14 (MONDO:MONDO:0030679)", "pathway": " (hsa:200734); (R-HSA-5658442); (R-HSA-5658623); (R-HSA-6802953)", "pathway_count": 4, "publication_count": 63, "publication_id_list": "11237011;11418238;11493923;12600938;12646235;12787671;15213456;15580519;1568246;15683364;1570011;1570015;16478641;17094949;18061161;18578522;18772396;18772890;18948947;19467855;19573811;19715689;19920134;20655465;2121370;21616146;22108604;22432025;22751498;22802525;23112089;23171796;23186163;23443682;23640895;23661552;24026051;24576830;24814062;25645385;26214590;26992070;29242379;29557506;31154438;31844290;32157095;33592498;33936100;34185709;34626534;35561310;35580925;36608738;36902429;37058811;37149146;38892460;8490657;8563751;9219684;9302992;9668168", "class_list": "", "function": "Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2., [RefSeq, PubMed]; NMR assignment of the human Spred2 EVH1 domain, [RefSeq, PubMed]; Negatively regulates Ras signaling pathways and downstream activation of MAP kinases (PubMed:15683364, PubMed:34626534). Recruits and translocates NF1 to the cell membrane, thereby enabling NF1-dependent hydrolysis of active GTP-bound Ras to inactive GDP-bound Ras (PubMed:34626534). Inhibits fibroblast growth factor (FGF)-induced retinal lens fiber differentiation, probably by inhibiting FGF-mediated phosphorylation of ERK1/2 (By similarity). Inhibits TGFB-induced epithelial-to-mesenchymal transition in lens epithelial cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; SPRED2 Is a Novel Regulator of Autophagy in Hepatocellular Carcinoma Cells and Normal Hepatocytes. Publication Status: Online-Only, [RefSeq, PubMed]; SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]., [RefSeq]; SPRED2 promotes autophagy and attenuates inflammatory response in IL-1beta induced osteoarthritis chondrocytes via regulating the p38 MAPK signaling pathway., [RefSeq, PubMed]; SPRED2: A Novel Regulator of Epithelial-Mesenchymal Transition and Stemness in Hepatocellular Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The ribosomal S6 kinase 2 (RSK2)-SPRED2 complex regulates the phosphorylation of RSK substrates and MAPK signaling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A1L3V4;B7Z5K7;D6W5F7;E9PEP0;Q2NKX6", "ec_number_list": [], "go_molecular_function": "GO:0005173 stem cell factor receptor binding;GO:0019901 protein kinase binding;GO:0030291 protein serine/threonine kinase inhibitor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030658 transport vesicle membrane", "go_biological_process": "GO:1902532 negative regulation of intracellular signal transduction;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0043517 positive regulation of DNA damage response, signal transduction by p53 class mediator;GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway;GO:0043409 negative regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q7Z698-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "X6R8D5-1", "uniprot_id": [ { "id": "CMIP3_HUMAN", "url": "https://www.uniprot.org/uniprot/X6R8D5", "type": "external" } ], "mass": 12786.0, "length": 112, "protein_name": "Ciliary microtubule inner protein 3", "gene_name": "CIMIP3", "organism": "Human", "refseq_name": "ciliary microtubule inner protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001357510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001357510", "type": "external" } ], "gene_names_uniprotkb": "CIMIP3; GUCA1ANB", "gene_names_refseq": "CIMIP3; GUCA1ANB", "protein_names_uniprotkb": "Ciliary microtubule inner protein 3; GUCA1A neighbor", "protein_names_refseq": "GUCA1A neighbor; ciliary microtubule inner protein 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:114841037)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A096LNT9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "X6R8D5-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6U4-1", "uniprot_id": [ { "id": "TVA7_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6U4", "type": "external" } ], "mass": 12598.0, "length": 112, "protein_name": "T cell receptor alpha variable 7", "gene_name": "TRAV7", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV7", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0009617 response to bacterium;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6U4-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0G2JMH3-1", "uniprot_id": [ { "id": "A0A0G2JMH3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0G2JMH3", "type": "external" } ], "mass": 19374.0, "length": 177, "protein_name": "ADP-ribosylation factor-like protein 17 C-terminal domain-containing protein", "gene_name": "LOC107984156", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LOC107984156", "gene_names_refseq": "", "protein_names_uniprotkb": "ADP-ribosylation factor-like protein 17 C-terminal domain-containing protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "30429286;31844290;32350084", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A0G2JMH3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6X5-1", "uniprot_id": [ { "id": "TVA18_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6X5", "type": "external" } ], "mass": 12414.0, "length": 111, "protein_name": "T cell receptor alpha variable 18", "gene_name": "TRAV18", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV18", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 18", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6X5-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6H7-1", "uniprot_id": [ { "id": "KV37_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6H7", "type": "external" } ], "mass": 12783.0, "length": 116, "protein_name": "Probable non-functional immunoglobulin kappa variable 3-7", "gene_name": "IGKV3-7", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV3-7", "gene_names_refseq": "", "protein_names_uniprotkb": "Probable non-functional immunoglobulin kappa variable 3-7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 14, "publication_id_list": "11340299;17576170;20176268;22158414;24600447;32157095;32983136;33298915;33912179;34932366;35051231;35154160;35580925;9619395", "class_list": "immunoglobin", "function": "Probable non-functional open reading frame (ORF) of V region of the variable domain of immunoglobulin light chains (PubMed:24600447). Non-functional ORF generally cannot participate in the synthesis of a productive immunoglobulin chain due to altered V-(D)-J or switch recombination and/or splicing site (at mRNA level) and/or conserved amino acid change (protein level) (PubMed:9619395). Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:20176268, PubMed:22158414). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, 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Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (PubMed:23348415, PubMed:28920588). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells (PubMed:25674089). Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements (PubMed:24387714)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0045087 innate immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6R0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J249-1", "uniprot_id": [ { "id": "TVA5_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J249", "type": "external" } ], "mass": 12968.0, "length": 113, "protein_name": "T cell receptor alpha variable 5", "gene_name": "TRAV5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV5", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0042101 T cell receptor complex", "go_biological_process": "GO:0009617 response to bacterium;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0B4J249-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A140TA67-1", "uniprot_id": [ { "id": "A0A140TA67_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A140TA67", "type": "external" } ], "mass": 18383.0, "length": 174, "protein_name": "Keratin-associated protein 9-7", "gene_name": "KRTAP9-7", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "KRTAP9-7", "gene_names_refseq": "", "protein_names_uniprotkb": "Keratin-associated protein 9-7", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0045095 keratin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A140TA67-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVM2-1", "uniprot_id": [ { "id": "A0A1B0GVM2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2", "type": "external" } ], "mass": 78905.0, "length": 712, "protein_name": "TRPM8 channel associated factor 2C", "gene_name": "TCAF2C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TCAF2C", "gene_names_refseq": "", "protein_names_uniprotkb": "TRPM8 channel associated factor 2C", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "11237011;31844290;32488085", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0090314 positive regulation of protein targeting to membrane;GO:0010360 negative regulation of anion channel activity", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A1B0GVM2-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PPH5-1", "uniprot_id": [ { "id": "TFLM_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PPH5", "type": "external" } ], "mass": 21945.0, "length": 198, "protein_name": "TATA-box-binding protein-associated factor 11-like protein 13", "gene_name": "TAF11L13", "organism": "Human", "refseq_name": "TATA-box-binding protein-associated factor 11-like protein 13", "refseq_ac": [ { "id": "NP_001388624", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001388624", "type": "external" } ], "gene_names_uniprotkb": "TAF11L13", "gene_names_refseq": "TAF11L13", "protein_names_uniprotkb": "TATA-box-binding protein-associated factor 11-like protein 13", "protein_names_refseq": "TATA-box-binding protein-associated factor 11-like protein 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:112488747)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "21078170", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1W2PPH5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWK5-1", "uniprot_id": [ { "id": "CYREN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWK5", "type": "external" } ], "mass": 16829.0, "length": 157, "protein_name": "Cell cycle regulator of non-homologous end joining", "gene_name": "CYREN", "organism": "Human", "refseq_name": "cell cycle regulator of non-homologous end joining isoform 2", "refseq_ac": [ { "id": "NP_001230678", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230678", "type": "external" } ], "gene_names_uniprotkb": "CYREN; C7orf49; MRI", "gene_names_refseq": "C7orf49; CYREN-1; CYREN-2; CYREN; MRI-2; MRI", "protein_names_uniprotkb": "Cell cycle regulator of non-homologous end joining; Cell cycle regulator of NHEJ; Modulator of retrovirus infection homolog", "protein_names_refseq": "cell cycle regulator of non-homologous end joining isoform 2; cell cycle regulator of non-homologous end joining; modulator of retrovirus infection homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:78996)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;16959974;17043244;23481700;24610814;25576301;27063109;28514659;28832583;28959974;29242379;29557506;30379171;30429286;31217245;31733588;31844290;31848261;32157095;32350084;32355287;32488085;32502341;32938616;33936100;33968037;35561310;35580925;37813856", "class_list": "", "function": "Cell-cycle-specific regulator of classical non-homologous end joining (NHEJ) of DNA double-strand break (DSB) repair, which can act both as an activator or inhibitor of NHEJ, depending on the cell cycle phase (PubMed:24610814, PubMed:28959974). Acts as a regulator of DNA repair pathway choice by specifically inhibiting classical NHEJ during the S and G2 phases, thereby promoting error-free repair by homologous recombination during cell cycle phases when sister chromatids are present (PubMed:28959974). Preferentially protects single-stranded overhangs at break sites by inhibiting classical NHEJ, thereby creating a local environment that favors homologous recombination (PubMed:28959974). Acts via interaction with XRCC5/Ku80 and XRCC6/Ku70 (PubMed:28959974). In contrast, acts as an activator of NHEJ during G1 phase of the cell cycle: promotes classical NHEJ in G1 phase cells via multivalent interactions that increase the affinity of DNA damage response proteins for DSB-associated chromatin. Also involved in immunoglobulin V(D)J recombination (By similarity). May also act as an indirect regulator of proteasome (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Characterizes the hamster ortholog and suggests that it may modulate the ability of the proteasome to degrade retroviral cores upon cellular infection., [RefSeq, PubMed]; Interacts with Ku and enhances efficiency of DNA double strand break ligation in vitro, [RefSeq, PubMed]; Proposition that CYREN is a direct cell-cycle-dependent inhibitor of cNHEJ that promotes error-free repair by homologous recombination during cell cycle phases when sister chromatids are present, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R780;A0A087WWQ8;Q6NWZ4;Q6ZNR5", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003684 damaged DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0035861 site of double-strand break;GO:1990391 DNA repair complex", "go_biological_process": "GO:1990166 protein localization to site of double-strand break;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0033152 immunoglobulin V(D)J recombination;GO:2001033 negative regulation of double-strand break repair via nonhomologous end joining", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BWK5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08999-1", "uniprot_id": [ { "id": "RBL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08999", "type": "external" } ], "mass": 128367.0, "length": 1139, "protein_name": "Retinoblastoma-like protein 2", "gene_name": "RBL2", "organism": "Human", "refseq_name": "retinoblastoma-like protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001310537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310537", "type": "external" } ], "gene_names_uniprotkb": "RBL2; RB2", "gene_names_refseq": "BRUWAG; P130; RBL2; Rb2", "protein_names_uniprotkb": "Retinoblastoma-like protein 2; 130 kDa retinoblastoma-associated protein; RBR-2; Retinoblastoma-related protein 2; p130; pRb2", "protein_names_refseq": "130 kDa retinoblastoma-associated protein; PRB2; RBR-2; retinoblastoma-like 2; retinoblastoma-like protein 2 isoform 1; retinoblastoma-like protein 2; retinoblastoma-related protein 2", "tax_id": 9606, "disease": "Brunet-Wagner neurodevelopmental syndrome (Disease Ontology:DOID:0061126); prostate cancer (Disease Ontology:DOID:10283); intellectual disability (Disease Ontology:DOID:1059); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5934); (R-HSA-1362277); (R-HSA-1362300); (R-HSA-1538133); (R-HSA-6804114); (R-HSA-69202); (R-HSA-69205); (R-HSA-69231); (R-HSA-69656); (R-HSA-9617828)", "pathway_count": 10, "publication_count": 198, "publication_id_list": "10207050;10228158;10323868;10375532;10385618;10454565;10454584;10499802;10524633;10597240;10692433;10831586;11032757;11042701;11073976;11157749;11231573;11231585;11237011;11416152;11574543;11585773;11719808;11884591;11884610;11907280;11959842;11964479;11988738;12006580;12023960;12435635;12444543;12450794;12730199;12782299;1312467;1396589;1423597;14517297;14597415;14990995;15014447;15084259;15186775;15458387;15510213;15574328;15579463;16195327;16582612;16600870;16772293;16782892;17092340;17172876;17254966;17254967;17531812;17671431;17719541;17908796;1828392;1828393;1828394;18414028;18444242;18710949;18827403;19075005;19413330;19458076;19487459;19690332;20058876;20107323;20460379;20485545;20663872;20843055;20952511;21423214;21498570;21715330;22002537;22869377;23007395;23033978;23186163;23485469;23580232;23622515;23737759;23918930;24047697;24096481;24515438;24876129;25576301;25645385;25733683;25843800;25892735;26154972;26237509;26375851;26811146;26960196;26992070;27846572;28571750;28580691;28904123;29493099;29557506;29606701;30379171;30429286;30711375;30779550;30833945;31154438;31543423;31844290;31848261;32105419;32157095;32161166;32265295;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33980986;34185709;34509645;34561969;34932366;35051231;35318648;35385527;35580925;36010968;36284347;36413521;37725511;37938771;7623816;7629134;7743995;7784094;7797074;7799941;7929342;7954814;7973727;8050359;8114698;8114739;8139570;8246996;8253383;8253384;8288595;8336704;8361765;8497257;8618861;8643454;8700224;8710362;8943353;9020173;9042862;9106657;9144196;9190208;9199292;9325318;9447971;9448290;9482921;9508775;9520412;9632134;9659898;9662327;9724731;9778043;9891042", "class_list": "", "function": "Key regulator of entry into cell division. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation. Recruits and targets histone methyltransferases KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation. Probably acts as a transcription repressor by recruiting chromatin-modifying enzymes to promoters. Potent inhibitor of E2F-mediated trans-activation, associates preferentially with E2F5. Binds to cyclins A and E. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. May act as a tumor suppressor., [UniProtKB]; Mutations in the acetylation hotspots of Rbl2 are associated with increased risk of breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function., [RefSeq, PubMed]; RBL2-E2F-GCN5 guide cell fate decisions during tissue specification by regulating cell-cycle-dependent fluctuations of non-cell-autonomous signaling., [RefSeq, PubMed]; Simultaneous depletion of RB, RBL1 and RBL2 affects endoderm differentiation of human embryonic stem cells. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 0, "predicted_o_glycosites": 3, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 44, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7Z913;Q15073;Q16084;Q8NE70;Q92812", "ec_number_list": [], "go_molecular_function": "GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0070062 extracellular exosome;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010629 negative regulation of gene expression;GO:0030154 cell differentiation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 20.1, "record_id": "Q08999-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GUW7-1", "uniprot_id": [ { "id": "TZMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GUW7", "type": "external" } ], "mass": 6429.0, "length": 55, "protein_name": "Transition zone microprotein 1", "gene_name": "SMIM27; TZMP1", "organism": "Human", "refseq_name": "small integral membrane protein 27", "refseq_ac": [ { "id": "NP_001336047", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001336047", "type": "external" } ], "gene_names_uniprotkb": "SMIM27; TZMP1; C9orf133; SMIM27; TOPORS-AS1", "gene_names_refseq": "C9orf133; SMIM27; TOPORS-AS1; TZMP1", "protein_names_uniprotkb": "Transition zone microprotein 1; Small integral membrane protein 27; TOPORS antisense RNA 1", "protein_names_refseq": "TOPORS antisense RNA 1 (non-protein coding); small integral membrane protein 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129250)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;30315122;32139545;41270742", "class_list": "", "function": "Required for ciliogenesis., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0035869 ciliary transition zone", "go_biological_process": "GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A0A1B0GUW7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WUV0-1", "uniprot_id": [ { "id": "ZN892_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WUV0", "type": "external" } ], "mass": 59574.0, "length": 522, "protein_name": "Zinc finger protein 892", "gene_name": "ZNF892", "organism": "Human", "refseq_name": "zinc finger protein 892", "refseq_ac": [ { "id": "NP_001382890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382890", "type": "external" } ], "gene_names_uniprotkb": "ZNF892", "gene_names_refseq": "ZNF892", "protein_names_uniprotkb": "Zinc finger protein 892", "protein_names_refseq": "zinc finger protein 570-like; zinc finger protein 892", "tax_id": 9606, "disease": "", "pathway": " (hsa:344065)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;31844290;32157095", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A087WUV0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A6YYG2-1", "uniprot_id": [ { "id": "TVB66_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A6YYG2", "type": "external" } ], "mass": 12632.0, "length": 114, "protein_name": "T cell receptor beta variable 6-6", "gene_name": "TRBV6-6", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV6-6", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 6-6", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "V region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0A6YYG2-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6Y9-1", "uniprot_id": [ { "id": "TJA42_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6Y9", "type": "external" } ], "mass": 2051.0, "length": 20, "protein_name": "T cell receptor alpha joining 42", "gene_name": "TRAJ42", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ42", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 42", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "15040585;20452950;23524462;24600447;25493333", "class_list": "", "function": "J region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition (PubMed:24600447). Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens (PubMed:25493333). Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn, ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation (PubMed:23524462). The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity (PubMed:15040585)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6Y9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YVS3-1", "uniprot_id": [ { "id": "A0A0J9YVS3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YVS3", "type": "external" } ], "mass": 1834.0, "length": 16, "protein_name": "Immunoglobulin heavy joining 4", "gene_name": "IGHJ4", "organism": "Human", "refseq_name": "", "refseq_ac": [], 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