[ { "uniprot_canonical_ac": "P04406-1", "uniprot_id": [ { "id": "G3P_HUMAN", "url": "https://www.uniprot.org/uniprot/P04406", "type": "external" } ], "mass": 36053.0, "length": 335, "protein_name": "Glyceraldehyde-3-phosphate dehydrogenase", "gene_name": "GAPDH", "organism": "Human", "refseq_name": "glyceraldehyde-3-phosphate dehydrogenase isoform 2", "refseq_ac": [ { "id": "NP_001243728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243728", "type": "external" } ], "gene_names_uniprotkb": "GAPDH; CDABP0047; GAPD; SW-cl.12", "gene_names_refseq": "G3PD; GAPDH; GAPD; HEL-S-162eP", "protein_names_uniprotkb": "Glyceraldehyde-3-phosphate dehydrogenase; 1.2.1.12; 2.6.99.-; GAPDH; Peptidyl-cysteine S-nitrosylase GAPDH", "protein_names_refseq": "OCAS, p38 component; Oct1 coactivator in S phase, 38 Kd component; aging-associated gene 9 protein; epididymis secretory sperm binding protein Li 162eP; glyceraldehyde-3-phosphate dehydrogenase isoform 2; peptidyl-cysteine S-nitrosylase GAPDH", "tax_id": 9606, "disease": "rheumatic heart disease (Disease Ontology:DOID:0050827); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); brain glioma (Disease Ontology:DOID:0060108); Alzheimer's disease (Disease Ontology:DOID:10652); epilepsy (Disease Ontology:DOID:1826); lymphangioleiomyomatosis (Disease Ontology:DOID:3319); middle cerebral artery infarction (Disease Ontology:DOID:3525); diabetic retinopathy (Disease Ontology:DOID:8947); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:2597); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 3, "publication_count": 295, "publication_id_list": "10.1101/2023.09.13.557529;10229653;10714828;10944468;11237011;11371164;11506403;11724794;11780755;11851336;1193541;12093795;12437512;12616532;12665801;1278465;12829261;12965206;12965222;13538944;14654843;14718531;14722102;15479637;15592455;15628863;15710582;16239728;16408927;16501887;16510976;16511037;16815975;17081983;17804405;18077418;18183946;18292551;18337460;183598;18369606;18449899;18452278;18507432;18566446;18613815;18669648;1871135;18910716;18910717;18927083;18984734;19001379;19117535;19118303;1924305;19413330;19531498;19562805;19608861;19615748;19651622;19690332;19748539;20058876;20068231;20105447;20166139;20230923;20305658;20644585;20727968;21081667;21209280;21300897;21406692;21654843;21740066;21908771;21949678;21979951;22219026;22299025;22424782;22544926;22645359;22771119;22832495;22905912;23071094;23168256;23186163;23332158;23446454;23506893;23555621;23576270;23653351;23719902;23783831;24126823;24275569;2462567;24714562;24715725;25086035;25102056;25417112;25469497;25502872;25505266;25576301;25645385;25648650;25802875;25810538;25880248;25892735;26024233;26154972;26374642;26626483;26629320;26824387;26992070;27090790;27387501;27452731;27618915;27726376;27846572;27862975;27893789;27920218;2793178;28218747;28228285;2846554;28467828;28489076;28510447;28514659;28522607;28649982;28657654;28832583;28834231;28855257;28860189;28871256;28904123;29242379;29314611;29317506;29331515;29351928;29391424;29393594;29437277;29493099;29508533;29557506;2960695;29632711;29786170;29789417;2987855;30192525;3027061;30315122;30379171;30397120;30410026;30429286;30444036;30517626;30524438;30573663;30626607;30779550;30833945;31020640;31217245;31373491;31611695;3170585;31844290;3208766;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33091337;33141586;33214551;33298915;33392160;3355497;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34405274;34433824;34509645;3453121;34725712;34782236;34931806;34932366;35051231;35083852;35138101;35154160;35251023;35254053;3529090;35318648;35526384;35561310;35580925;36010968;36215666;36241641;36284347;3664468;36816132;37074911;37217939;37938771;38325356;38665916;39024127;39285229;39990658;40596516;40914422;4413246;4555506;4827367;5009693;5687724;6096136;6096821;6434534;6444721;6451249;6696436;6771269;7030790;7144574;7150652;7391027;7498159;7499850;7573034;7717389;7825568;7989588;8117307;8211187;8325892;8447317;8571957;8645161;8672555;8786021;8892091;9382095;9428641;9438414;9493266;957435;9585002;9657976;9678974;9758626", "class_list": "glycogene", "function": "Catalyzes the conversion of D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate in glycolysis and the reverse reaction in gluconeogenesis (PubMed:11724794, PubMed:3170585). Also shows nitrosylase activity, thereby playing a role in nuclear functions (PubMed:11724794, PubMed:3170585). Modulates the organization and assembly of the cytoskeleton (By similarity). Facilitates the CHP1-dependent microtubule and membrane associations through its ability to stimulate the binding of CHP1 to microtubules (By similarity). Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes (PubMed:23071094). Upon interferon-gamma treatment assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation (PubMed:23071094). Also plays a role in innate immunity by promoting TNF-induced NF-kappa-B activation and type I interferon production, via interaction with TRAF2 and TRAF3, respectively (PubMed:23332158, PubMed:27387501). Participates in nuclear events including transcription, RNA transport, DNA replication and apoptosis (By similarity). Nuclear functions are probably due to the nitrosylase activity that mediates cysteine S-nitrosylation of nuclear target proteins such as SIRT1, HDAC2 and PRKDC (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; GAPDH is a moonlighting protein that functions as a glycolytic enzyme as well as a uracil DNA glycosylase. Review article, [RefSeq, PubMed]; Glyceraldehyde-3-Phosphate Dehydrogenase Binds with Spike Protein and Inhibits the Entry of SARS-CoV-2 into Host Cells., [RefSeq, PubMed]; Regulation of AMPK and GAPDH by Transglutaminase 2 Plays a Pivotal Role in Microvascular Leakage in Diabetic Retinas., [RefSeq, PubMed]; The protein encoded by this gene contains a peptide that displays antimicrobial activity against E. coli, P. aeruginosa, and C. albicans., [RefSeq, PubMed]; The tumor suppressor Parkin exerts anticancer effects through regulating mitochondrial GAPDH activity., [RefSeq, PubMed]; This gene encodes a member of the glyceraldehyde-3-phosphate dehydrogenase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The product of this gene catalyzes an important energy-yielding step in carbohydrate metabolism, the reversible oxidative phosphorylation of glyceraldehyde-3-phosphate in the presence of inorganic phosphate and nicotinamide adenine dinucleotide (NAD). The encoded protein has additionally been identified to have uracil DNA glycosylase activity in the nucleus. Also, this protein contains a peptide that has antimicrobial activity against E. coli, P. aeruginosa, and C. albicans. Studies of a similar protein in mouse have assigned a variety of additional functions including nitrosylation of nuclear proteins, the regulation of mRNA stability, and acting as a transferrin receptor on the cell surface of macrophage. Many pseudogenes similar to this locus are present in the human genome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 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": 23, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 363, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "E7EUT4;P00354;Q53X65", "ec_number_list": [ { "id": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "type": "external" }, { "id": "2.6.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.99.-", "type": "external" } ], "go_molecular_function": "GO:0008017 microtubule binding;GO:0042802 identical protein binding;GO:0051287 NAD binding;GO:0097718 disordered domain specific binding;GO:0004365 glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0051402 neuron apoptotic process;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0016241 regulation of macroautophagy;GO:0001819 positive regulation of cytokine production;GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 32.0, "record_id": "P04406-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14508-1", "uniprot_id": [ { "id": "SOCS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14508", "type": "external" } ], "mass": 22172.0, "length": 198, "protein_name": "Suppressor of cytokine signaling 2", "gene_name": "SOCS2", "organism": "Human", "refseq_name": "suppressor of cytokine signaling 2", "refseq_ac": [ { "id": "NP_001257396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257396", "type": "external" } ], "gene_names_uniprotkb": "SOCS2; CIS2; SSI2; STATI2", "gene_names_refseq": "CIS2; Cish2; SOCS-2; SOCS2; SSI-2; SSI2; STATI2", "protein_names_uniprotkb": "Suppressor of cytokine signaling 2; CIS-2; Cytokine-inducible SH2 protein 2; SOCS-2; SSI-2; STAT-induced STAT inhibitor 2", "protein_names_refseq": "CIS-2; STAT-induced STAT inhibitor 2; cytokine-inducible SH2 protein 2; suppressor of cytokine signaling 2", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); endometrial cancer (Disease Ontology:DOID:1380); invasive ductal carcinoma (Disease Ontology:DOID:3008); ovarian carcinoma (Disease Ontology:DOID:4001)", "pathway": " (hsa:8835); (R-HSA-1266695); (R-HSA-8951664); (R-HSA-9706369); (R-HSA-982772)", "pathway_count": 5, "publication_count": 214, "publication_id_list": "10512686;10535940;10597293;10811609;10878807;10973499;11069780;11237011;11259415;11292861;11292862;11418668;11454738;11564764;11585840;11728342;11733065;11781573;11961546;12024036;12101228;12184921;12186903;12504025;12504026;12526791;12538644;12609982;12682069;12759363;12816948;12889071;12907755;14593182;14690597;14757770;15282312;15353558;15361859;15367669;1549776;15537541;15572695;15574592;15601839;15652483;15688063;15694336;15749844;15799966;16171779;16401342;16547496;16647857;16675548;16684964;16707496;16790436;16943200;17081101;17110436;17132228;17183367;17220875;17332328;17446348;17497243;17785452;18093314;18192505;18206966;18488018;18775313;18776931;18805092;18826954;18851830;18926707;19250909;19276253;19321346;1948064;19617556;19748355;19864382;19927328;21072051;21105711;21262971;21447816;21463634;21778237;21863050;21940857;21980433;22306028;22438257;22464331;22466964;22537386;22544926;22942183;22952242;22959436;2317865;23186163;23201271;23300935;23333871;23401859;23453757;23535662;23535663;23548639;23563313;23583660;23707526;23897481;23912815;23986495;24076655;24366543;24417533;24636985;24705897;24793695;24793696;25314029;25349211;25355947;25505247;25531226;26301565;26308771;26344709;26460955;26632597;26906416;26974155;27030794;27222660;27423467;27458164;27565346;27666490;28086240;28115426;28218747;2825030;28611190;28832583;28904123;29139090;29153394;29242379;29393594;29437277;29493099;29508533;29880609;30429286;30524438;30610225;31066629;31182716;31578312;31844290;31918398;32005965;32157095;32284348;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33444648;3349036;33912179;33968037;33981976;34857742;34932366;35051231;35580925;37816714;37948135;38071211;38084702;38103096;7489741;7514277;7691587;7719938;8128231;8188682;8266077;8343952;8702919;8709637;9030599;9058373;9233603;9266833;9344848;9398404;9553136;9715265;9727029;9790970;9887101;9891082", "class_list": "", "function": "Analysis of epigenetic clocks links yoga, sleep, education, reduced meat intake, coffee, and a SOCS2 gene variant to slower epigenetic aging., [RefSeq, PubMed]; CTRP6 protects against ferroptosis to drive lung cancer progression and metastasis by destabilizing SOCS2 and augmenting the xCT/GPX4 pathway., [RefSeq, PubMed]; Inhibition of miR-578 through SOCS2-dependent manner reverses gefitinib resistance in NSCLC cells., [RefSeq, PubMed]; SOCS2 inhibits hepatoblastoma metastasis via downregulation of the JAK2/STAT5 signal pathway. Publication Status: Online-Only, [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 EPOR and GHR (PubMed:11781573, PubMed:21980433, PubMed:25505247, PubMed:31182716, PubMed:34857742). Specifically recognizes and binds phosphorylated proteins via its SH2 domain, promoting their ubiquitination (PubMed:21980433, PubMed:25505247, PubMed:31182716, PubMed:34857742, PubMed:37816714). The ECS(SOCS2) complex acts as a key regulator of growth hormone receptor (GHR) levels by mediating ubiquitination and degradation of GHR, following GHR phosphorylation by JAK2 (PubMed:21980433, PubMed:25505247, PubMed:34857742). The ECS(SOCS2) also catalyzes ubiquitination and degradation of JAK2-phosphorylated EPOR (PubMed:11781573)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_glycation": 0, "reported_snv": 3, "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": "A8K3D1;O14542;O95102;Q9UKS5", "ec_number_list": [], "go_molecular_function": "GO:0005159 insulin-like growth factor receptor binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0008269 JAK pathway signal transduction adaptor activity;GO:0005131 growth hormone receptor binding;GO:0140031 phosphorylation-dependent protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031466 Cul5-RING ubiquitin ligase complex", "go_biological_process": "GO:0060400 negative regulation of growth hormone receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0043066 negative regulation of apoptotic process;GO:0032870 cellular response to hormone stimulus;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 21.5, "record_id": "O14508-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48664-1", "uniprot_id": [ { "id": "EAA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P48664", "type": "external" } ], "mass": 61565.0, "length": 564, "protein_name": "Excitatory amino acid transporter 4", "gene_name": "SLC1A6", "organism": "Human", "refseq_name": "excitatory amino acid transporter 4 isoform 1", "refseq_ac": [ { "id": "NP_001259016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001259016", "type": "external" } ], "gene_names_uniprotkb": "SLC1A6; EAAT4", "gene_names_refseq": "EAAT4; SLC1A6", "protein_names_uniprotkb": "Excitatory amino acid transporter 4; Sodium-dependent glutamate/aspartate transporter; Solute carrier family 1 member 6", "protein_names_refseq": "excitatory amino acid transporter 4 isoform 1; excitatory amino acid transporter 4; sodium-dependent glutamate/aspartate transporter; solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6", "tax_id": 9606, "disease": "episodic ataxia type 6 (Disease Ontology:DOID:0050994); neurodegenerative disease (Disease Ontology:DOID:1289); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6511); (R-HSA-210500); (R-HSA-9958863)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10440375;10620514;11001057;11015561;11237011;11242046;11756489;12519779;15935055;16116111;16616430;17221839;17478680;17891149;17989281;18215623;20519505;21572047;22302796;22424243;24578174;24715725;26690923;27978527;28228285;29557506;31844290;3214421;33968037;35051231;36215666;7521911;7791878;7859077;9108121;9701566", "class_list": "", "function": "A conserved aspartate determines pore properties of anion channels associated with excitatory amino acid transporter 4 (EAAT4), [RefSeq, PubMed]; A twofold difference in functional EAAT4 levels is sufficient to alter signaling to Bergman glia in reporter mice., [RefSeq, PubMed]; At least one susceptibility locus for schizophrenia may be located within or nearby SLC1A6. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Decreased SLC1A6 expression in neuregulin 1 risk variant may be an adaptive effect to restore glutamate signalling in schizophrenia patients., [RefSeq, PubMed]; Lithium-sensitive GSK3ss is a powerful regulator of excitatory amino acid transporters EAAT3 and EAAT4., [RefSeq, PubMed]; Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:26690923, PubMed:7791878). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (PubMed:7791878). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (Probable)., [UniProtKB, UniProtKB, PubMed, PubMed]; Strate-dependent gating of anion channels associated with excitatory amino acid transporter 4., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q8N753", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0005314 high-affinity L-glutamate transmembrane transporter activity;GO:0015501 glutamate:sodium symporter activity;GO:0005313 L-glutamate transmembrane transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0006865 amino acid transport;GO:0001504 neurotransmitter uptake;GO:0098712 L-glutamate import across plasma membrane;GO:0140009 L-aspartate import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P48664-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VQ3-1", "uniprot_id": [ { "id": "TXND2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VQ3", "type": "external" } ], "mass": 60404.0, "length": 553, "protein_name": "Thioredoxin domain-containing protein 2", "gene_name": "TXNDC2", "organism": "Human", "refseq_name": "thioredoxin domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001091999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091999", "type": "external" } ], "gene_names_uniprotkb": "TXNDC2; SPTRX1; SPTRX", "gene_names_refseq": "SPTRX1; SPTRX; TXNDC2", "protein_names_uniprotkb": "Thioredoxin domain-containing protein 2; Spermatid-specific thioredoxin-1; Sptrx-1", "protein_names_refseq": "sperm-specific thioredoxin 1; spermatid-specific thioredoxin-1; sptrx-1; testicular tissue protein Li 215; thioredoxin domain containing 2 (spermatozoa); thioredoxin domain-containing protein 2 isoform 2; thioredoxin domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84203)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11230166;11237011;11399755;11737268;12387870;21375472;29557506;31844290;33603952;34158577;34561969;35051231", "class_list": "", "function": "Probably plays a regulatory role in sperm development. May participate in regulation of fibrous sheath (FS) assembly by supporting the formation of disulfide bonds during sperm tail morphogenesis. May also be required to rectify incorrect disulfide pairing and generate suitable pairs between the FS constituents. Can reduce disulfide bonds in vitro in the presence of NADP and thioredoxin reductase., [UniProtKB]; Sperm specific expression, together with chromosomal assignment to a position as a potential locus for flagellar anomalies and male infertility phenotypes, suggests that it might be a novel component of the human sperm axonemal organization., [RefSeq, PubMed]; Spermatid-specific thioredoxin-1 (Sptrx-1) is a two-domain protein with oxidizing activity, [RefSeq, PubMed]; TXNDC2 joint molecular marker is associated with testis pathology and is an accurate predictor of sperm retrieval. Publication Status: Online-Only, [RefSeq, PubMed]; Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation. Publication Status: Online-Only, [RefSeq, PubMed]; The patients with advanced-stagemalignant pleural mesothelioma (MPM) showed higher levels of TRX than those with early-stage MPM., [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": 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": "A5YM73;Q8N7U4;Q96RX3;Q9H0L8", "ec_number_list": [], "go_molecular_function": "GO:0004791 thioredoxin-disulfide reductase (NADPH) activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045454 cell redox homeostasis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q86VQ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q56P03-1", "uniprot_id": [ { "id": "EAPP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q56P03", "type": "external" } ], "mass": 32762.0, "length": 285, "protein_name": "E2F-associated phosphoprotein", "gene_name": "EAPP", "organism": "Human", "refseq_name": "E2F-associated phosphoprotein isoform 2", "refseq_ac": [ { "id": "NP_001305845", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305845", "type": "external" } ], "gene_names_uniprotkb": "EAPP; BM-036; C14orf11", "gene_names_refseq": "BM036; C14orf11; EAPP", "protein_names_uniprotkb": "E2F-associated phosphoprotein; EAPP", "protein_names_refseq": "E2F-associated phosphoprotein isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55837)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;15716352;15820313;17081983;18452278;18588995;18669648;19413330;19651622;19690332;20068231;21258403;21406692;23542036;24275569;24715725;26992070;28228285;28832583;28834231;29242379;29393594;29557506;30315122;30429286;30484775;31844290;32157095;33912179;33968037;33981976;35051231;35580925;36241641;36284347", "class_list": "", "function": "EAPP modulates E2F-regulated transcription, stimulates proliferation, and may be involved in the malignant transformation of cells., [RefSeq, PubMed]; Independently of EAPP, E2F1 also increases the activity of the MDR1 promoter., [RefSeq, PubMed]; May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression., [UniProtKB, PubMed]; Regulation of the EAPP promoter by GC-box binding proteins is reported., [RefSeq, PubMed]; Results indicate that the level of EAPP is critical for cellular homeostasis, [RefSeq, PubMed]; This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 18, "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": "Q9BVF4;Q9NWV5;Q9NZ86", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0034244 negative regulation of transcription elongation by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q56P03-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62760-1", "uniprot_id": [ { "id": "VISL1_HUMAN", "url": "https://www.uniprot.org/uniprot/P62760", "type": "external" } ], "mass": 22142.0, "length": 191, "protein_name": "Visinin-like protein 1", "gene_name": "VSNL1", "organism": "Human", "refseq_name": "visinin-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_003376", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003376", "type": "external" } ], "gene_names_uniprotkb": "VSNL1; VISL1", "gene_names_refseq": "HLP3; HPCAL3; HUVISL1; VILIP-1; VILIP; VSNL1", "protein_names_uniprotkb": "Visinin-like protein 1; HLP3; Hippocalcin-like protein 3; VILIP; VLP-1", "protein_names_refseq": "VLP-1; hippocalcin-like protein 3; visinin-like protein 1 isoform 1; visinin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7447)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10520747;11237011;18703769;29557506;30315122;30429286;31154438;31844290;32157095;33912179;35051231;35181619;35292254;35580925;36010968;36419075;37096864;37217939;8530085;8780737;9109541", "class_list": "", "function": "Predictive value of serum visinin-like protein-1 for early neurologic deterioration and three-month clinical outcome in acute primary basal ganglia hemorrhage: A prospective and observational study., [RefSeq, PubMed]; Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; VILIP-1 interacts with cell membrane and actin-based cytoskeleton, [RefSeq, PubMed]; VILIP-1 modulates cAMP-accumulation in C6 glioma cells, [RefSeq, PubMed]; VSNL1 Promotes Cell Proliferation, Migration, and Invasion in Colorectal Cancer by Binding with COL10A1. Erratum:[Ann Clin Lab Sci. 2022 May;52(3):510. PMID: 35777801], [RefSeq, PubMed]; Visinin-like 1, a novel target gene of the Wnt/beta-catenin signaling pathway, is involved in apoptosis resistance in colorectal cancer., [RefSeq, PubMed]; Visinin-like protein 1 levels in blood and CSF as emerging markers for Alzheimer's and other neurodegenerative diseases. 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": "D6W515;P28677;P29103;P42323;Q9UM20", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P62760-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28300-1", "uniprot_id": [ { "id": "LYOX_HUMAN", "url": "https://www.uniprot.org/uniprot/P28300", "type": "external" } ], "mass": 46944.0, "length": 417, "protein_name": "Protein-lysine 6-oxidase", "gene_name": "LOX", "organism": "Human", "refseq_name": "protein-lysine 6-oxidase isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_002308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002308", "type": "external" } ], "gene_names_uniprotkb": "LOX", "gene_names_refseq": "AAT10; LOX", "protein_names_uniprotkb": "Protein-lysine 6-oxidase; 1.4.3.13; Lysyl oxidase", "protein_names_refseq": "protein-lysine 6-oxidase isoform 1 preproprotein; protein-lysine 6-oxidase", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); Ehlers-Danlos syndrome (Disease Ontology:DOID:13359); thoracic aortic aneurysm (Disease Ontology:DOID:14004); Menkes disease (Disease Ontology:DOID:1838); Williams-Beuren syndrome (Disease Ontology:DOID:1928); colon adenocarcinoma (Disease Ontology:DOID:234); arteriosclerosis (Disease Ontology:DOID:2349); coronary artery disease (Disease Ontology:DOID:3393); coronary restenosis (Disease Ontology:DOID:4247); abdominal aortic aneurysm (Disease Ontology:DOID:7693); colorectal cancer (Disease Ontology:DOID:9256); aortic aneurysm, familial thoracic 10 (MONDO:MONDO:0014950)", "pathway": " (hsa:4015); (R-HSA-1566948); (R-HSA-2243919)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10198291;10391127;10936461;11237011;11313359;11481325;12211432;1237296;1348714;1352776;1357535;1484505;1567360;1685472;16906757;18160138;19570982;19729652;19855011;22842973;23090970;23345538;23584533;24190977;25813380;26601954;26838787;27432961;27622074;29391424;29393594;29557506;29741879;29786170;30237853;30429286;30459171;30484775;31152061;31844290;32157095;32357974;33592498;33968037;35051231;35254053;35580925;3595596;36241641;37074911;37217939;38009683;38096955;38353503;38466882;38665916;3992061;41816;5246001;5723342;6123066;6129847;641035;7706256;7902322;8100215;8617364;8636146;9470928", "class_list": "", "function": "Association of LOX gene G473A polymorphism with the occurrence of allergic rhinitis and efficacy of montelukast sodium in children., [RefSeq, PubMed]; Crosstalk of lysyl oxidase-like 1 and lysyl oxidase prolongs their half-lives and regulates liver fibrosis through Notch signal. Publication Status: Online-Only, [RefSeq, PubMed]; Fibroblast-Derived Lysyl Oxidase Increases Oxidative Phosphorylation and Stemness in Cholangiocarcinoma., [RefSeq, PubMed]; Lysyl oxidase-mediated elastin upregulation promotes the proliferation and migration of human retinal endothelial cells., [RefSeq, PubMed]; Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (PubMed:26838787). Regulator of Ras expression. May play a role in tumor suppression. Plays a role in the aortic wall architecture (By similarity)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [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": 3, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 32, "disease_count": 12, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "B2R5Q3;Q5FWF0", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "1.4.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.13", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005518 collagen binding;GO:0005507 copper ion binding;GO:0036094 small molecule binding;GO:0004720 protein-lysine 6-oxidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0005581 collagen trimer;GO:0001527 microfibril", "go_biological_process": "GO:0036211 protein modification process;GO:0030199 collagen fibril organization;GO:0048514 blood vessel morphogenesis;GO:0048545 response to steroid hormone;GO:0035791 platelet-derived growth factor receptor-beta signaling pathway", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P28300-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPD3-1", "uniprot_id": [ { "id": "EXOS4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPD3", "type": "external" } ], "mass": 26383.0, "length": 245, "protein_name": "Exosome complex component RRP41", "gene_name": "EXOSC4", "organism": "Human", "refseq_name": "exosome complex component RRP41", "refseq_ac": [ { "id": "NP_061910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061910", "type": "external" } ], "gene_names_uniprotkb": "EXOSC4; RRP41; SKI6", "gene_names_refseq": "EXOSC4; RRP41A; RRP41; Rrp41p; SKI6; Ski6p; hRrp41p; p12A", "protein_names_uniprotkb": "Exosome complex component RRP41; Exosome component 4; Ribosomal RNA-processing protein 41; p12A", "protein_names_refseq": "exosome complex component RRP41; exosome complex exonuclease RRP41; exosome component Rrp41; ribosomal RNA-processing protein 41", "tax_id": 9606, "disease": "developmental disorder of mental health (Disease Ontology:DOID:0060037)", "pathway": " (hsa:54512); (R-HSA-380994); (R-HSA-429958); (R-HSA-450385); (R-HSA-450513); (R-HSA-450604); (R-HSA-6791226); (R-HSA-9930044)", "pathway_count": 8, "publication_count": 182, "publication_id_list": "10330172;10465791;10958673;11110791;11237011;11283721;11719186;11922599;12068309;12150911;12198173;12324455;12639954;12646273;12705825;12748283;14688255;14742429;14749774;14976220;15014438;15068804;15117938;15175153;15231747;15273322;15385533;15475613;15514971;15538381;15687258;15769464;15944294;16037817;16043514;16141059;16262601;16364914;16648466;16687408;16738141;16912112;16912217;16931790;16989641;17030608;17133347;17174896;17189298;17245413;17353269;17369404;17412707;17545563;18065403;18172165;18285520;18326031;18367721;18438418;18441014;18481987;18684992;18840095;19060886;19106111;19141871;19198587;19225159;19239894;19332556;19564402;19729507;19801658;19854161;20022965;20038530;20056613;20361218;20368444;20531386;20531389;20798176;20805244;20819938;21036871;21063389;21097556;21255825;21705430;21791617;21855801;22072790;22190735;22195017;22223895;22802018;22819556;22869377;22898188;22916032;22978410;23223233;23269699;23439679;23481700;23482395;2388630;24366607;24424021;24550520;24714562;25525153;25576301;25578728;25969445;26154972;26237581;2663993;2664463;26992070;27434818;27600516;27846572;27871484;27920218;28832583;28834231;28904123;29242379;29298432;29413899;29557506;29786170;29906447;30379171;30524438;31217245;31222486;31530632;31844290;31848261;31937595;31950173;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;3260265;32938616;32983136;33141586;33298915;33592498;33691108;33767452;33912179;33913806;33936100;33968037;33981976;34087483;34171305;34211107;34229054;34405274;34509645;35008922;35051231;35580925;36010968;36215666;36241641;36912080;37875486;38913281;40914422;9482744", "class_list": "", "function": "Non-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. 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. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC4 binds to ARE-containing RNAs., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; RNA Exosome Component EXOSC4 Amplified in Multiple Cancer Types Is Required for the Cancer Cell Survival. Publication Status: Online-Only, [RefSeq, PubMed]; RUNX3 exerts tumor-suppressive role through inhibiting EXOSC4 expression. 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0000175 3'-5'-RNA exonuclease activity;GO:0035925 mRNA 3'-UTR AU-rich region binding", "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:0006396 RNA processing;GO:0030307 positive regulation of cell growth;GO:0051607 defense response to virus;GO:0000956 nuclear-transcribed mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 18.5, "record_id": "Q9NPD3-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62166-1", "uniprot_id": [ { "id": "NCS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P62166", "type": "external" } ], "mass": 21879.0, "length": 190, "protein_name": "Neuronal calcium sensor 1", "gene_name": "NCS1", "organism": "Human", "refseq_name": "neuronal calcium sensor 1 isoform 2", "refseq_ac": [ { "id": "NP_001122298", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122298", "type": "external" } ], "gene_names_uniprotkb": "NCS1; FLUP; FREQ", "gene_names_refseq": "FLUP; FREQ; NCS1", "protein_names_uniprotkb": "Neuronal calcium sensor 1; Frequenin homolog; Frequenin-like protein; Frequenin-like ubiquitous protein; NCS-1", "protein_names_refseq": "frequenin homolog; frequenin-like protein; frequenin-like ubiquitous protein; neuronal calcium sensor 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23413)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11092894;11606724;12783849;17555535;25074811;25255805;25576301;27600516;28119500;28904123;29557506;29966094;30429286;31844290;32157095;32357974;32936312;33592498;33981976;34830487;35051231;36241641;38062964;38564162", "class_list": "", "function": "Disorder in a two-domain neuronal Ca(2+)-binding protein regulates domain stability and dynamics using ligand mimicry., [RefSeq, PubMed]; Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications for Zinc and Redox Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; NCS-1 protein regulates TRPA1 channel through the PI3K pathway in breast cancer and neuronal cells., [RefSeq, PubMed]; Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N-type voltage-gated calcium channel (By similarity)., [UniProtKB]; This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; [Neuronal Calcium Sensor-1: A Zinc/Redox-Dependent Protein of Nervous System Signaling Pathways]. 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": 4, "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": "E9PAY3;P36610;Q9UK26", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005245 voltage-gated calcium channel activity;GO:0008048 calcium sensitive guanylate cyclase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density", "go_biological_process": "GO:0009966 regulation of signal transduction;GO:0010975 regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P62166-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JTB6-1", "uniprot_id": [ { "id": "PLAC9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JTB6", "type": "external" } ], "mass": 10309.0, "length": 97, "protein_name": "Placenta-specific protein 9", "gene_name": "PLAC9", "organism": "Human", "refseq_name": "placenta-specific protein 9 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001012991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012991", "type": "external" } ], "gene_names_uniprotkb": "PLAC9", "gene_names_refseq": "PLAC9", "protein_names_uniprotkb": "Placenta-specific protein 9", "protein_names_refseq": "placenta specific 9; placenta-specific protein 9 isoform 1 precursor; placenta-specific protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:219348)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;30291214;30459171;31154438;31844290;35580925", "class_list": "", "function": "Plac9 is a novel protein that is localized to the cytoplasm and may be secreted through the classic endoplasmic reticulum-Golgi route. The overexpression of Plac9 inhibits cell growth and induces G2/M phase arrest. Conclusion: Our findings reveal a novel role for Plac9 in regulating cell growth. 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q5JTB6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14818-1", "uniprot_id": [ { "id": "PSA7_HUMAN", "url": "https://www.uniprot.org/uniprot/O14818", "type": "external" } ], "mass": 27887.0, "length": 248, "protein_name": "Proteasome subunit alpha type-7", "gene_name": "PSMA7", "organism": "Human", "refseq_name": "proteasome subunit alpha type-7", "refseq_ac": [ { "id": "NP_002783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002783", "type": "external" } ], "gene_names_uniprotkb": "PSMA7; HSPC", "gene_names_refseq": "C6; HEL-S-276; HSPC; PSMA7; RC6-1; XAPC7", "protein_names_uniprotkb": "Proteasome subunit alpha type-7; Proteasome subunit RC6-1; Proteasome subunit XAPC7; Proteasome subunit alpha-4; alpha-4", "protein_names_refseq": "alpha-4; epididymis secretory protein Li 276; proteasome (prosome, macropain) subunit, alpha type, 7; proteasome subunit RC6-1; proteasome subunit XAPC7; proteasome subunit alpha 4; proteasome subunit alpha 7; proteasome subunit alpha type-7; testicular tissue protein Li 151", "tax_id": 9606, "disease": "", "pathway": " (hsa:5688); (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-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1074, "publication_id_list": 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"class_list": "", "function": "Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Inhibits the transactivation function of HIF-1A under both normoxic and hypoxia-mimicking conditions. The interaction with EMAP2 increases the proteasome-mediated HIF-1A degradation under the hypoxic conditions. Plays a role in hepatitis C virus internal ribosome entry site-mediated translation. Mediates nuclear translocation of the androgen receptor (AR) and thereby enhances androgen-mediated transactivation. Promotes MAVS degradation and thereby negatively regulates MAVS-mediated innate immune response., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Pan-caner analysis identifies PSMA7 as a targets for amplification at 20q13.33 in tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Proteasome Subunit Alpha Type-7 Expression Suppresses Cutaneous Squamous Cell Carcinoma Progression by Inhibiting Cancer-associated Cytokines., [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. 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 peptidase T1A family that functions as a 20S core alpha subunit. The encoded protein interacts with the hepatitis B virus X protein and plays a role in regulating hepatitis C virus internal ribosome entry site (IRES) activity, an activity essential for viral replication. The encoded protein also plays a role in the cellular stress response by regulating hypoxia-inducible factor-1alpha. A pseudogene of this gene is located on the long arm of chromosome 9. [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": 1, "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": 1, "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": "B2R515;Q5JXJ2;Q9BR53;Q9H4K5;Q9UEU8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045061 thymic T cell selection;GO:0045063 T-helper 1 cell differentiation;GO:0071357 cellular response to type I interferon;GO:0043374 CD8-positive, alpha-beta T cell differentiation;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 107.8, "record_id": "O14818-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S59-1", "uniprot_id": [ { "id": "RANB9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S59", "type": "external" } ], "mass": 77847.0, "length": 729, "protein_name": "Ran-binding protein 9", "gene_name": "RANBP9", "organism": "Human", "refseq_name": "ran-binding protein 9", "refseq_ac": [ { "id": "NP_005484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005484", "type": "external" } ], "gene_names_uniprotkb": "RANBP9; RANBPM", "gene_names_refseq": "BPM-L; BPM90; RANBP9; RANBPM; RanBP7", "protein_names_uniprotkb": "Ran-binding protein 9; BPM-L; BPM90; Ran-binding protein M; RanBP7; RanBP9; RanBPM", "protein_names_refseq": "Ran Binding Protein in the Microtubule organizing center; novel centrosomal protein RanBPM; ran binding protein, centrosomal; ran-binding protein 9; ran-binding protein M", "tax_id": 9606, "disease": "", "pathway": " (hsa:10048); (R-HSA-373760); (R-HSA-5673001); (R-HSA-8851805); (R-HSA-9861718)", "pathway_count": 5, "publication_count": 185, "publication_id_list": "10508167;10869344;11027663;11090077;11136978;11313946;11470507;11546808;11702783;12032311;12084015;12094235;12121613;12147692;12220523;12361945;12421467;12559565;12684061;14500717;14506247;14511641;14684163;14707138;14722085;14978216;15314156;15345747;15356145;15381419;1545823;15546878;15558019;16000162;16627759;16684964;1716764;17467196;17525332;17998941;18222118;18387606;18669648;18710924;18775330;1898771;19279408;19608861;19651622;19664994;19920141;20068231;20478380;20580816;21102635;21152083;21372320;21779497;21779505;21872626;21993244;21993680;22299025;22499340;22569528;22589270;22750304;23103841;23301498;23303910;23443682;23481700;23575685;24143168;24715725;24897931;24937142;25219551;25576301;25645385;25781681;25892735;26085527;26154972;26375851;26811146;26943034;26992070;27600516;27622290;27846572;27862975;27893789;27920218;28063628;28228285;28411811;28510447;28514659;28778966;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29911972;30315122;30429286;30524438;31092671;31135801;31154438;31217245;31222486;31735643;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33462636;33537174;33592498;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34433824;34509645;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37217939;37676377;37938771;38665916;6148751;7513258;7708691;7731718;7757881;7809086;7935463;7972015;8052307;8394845;8493579;8665852;8703035;8710374;8939933;9038378;9070211;9604935;9817760;9927426", "class_list": "", "function": "ATM-Mediated translocation of RanBPM regulates DNA damage response by stabilizing p21 in non-small cell lung cancer cells., [RefSeq, PubMed]; May act as scaffolding protein, and as adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Acts as a mediator of cell spreading and actin cytoskeleton rearrangement (PubMed:18710924). 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). May be involved in signaling of ITGB2/LFA-1 and other integrins (PubMed:14722085). Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway (PubMed:12147692). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but not affect estrogen-induced transactivation (PubMed:12361945, PubMed:18222118). Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity (PubMed:15558019). Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RanBPM is the enzymic substrate for USP11 and is deubiquitinated specifically, [RefSeq, PubMed]; This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A0PJA2;B2R8E1;O94764;Q6P3T7;Q7LBR2;Q7Z7F9", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0030674 protein-macromolecule adaptor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0007020 microtubule nucleation;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 18.8, "record_id": "Q96S59-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13239-1", "uniprot_id": [ { "id": "SLAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13239", "type": "external" } ], "mass": 31156.0, "length": 276, "protein_name": "Src-like-adapter", "gene_name": "SLA", "organism": "Human", "refseq_name": "src-like-adapter isoform a", "refseq_ac": [ { "id": "NP_001039021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001039021", "type": "external" } ], "gene_names_uniprotkb": "SLA; SLAP1; SLAP", "gene_names_refseq": "SLA1; SLAP; SLA", "protein_names_uniprotkb": "Src-like-adapter; SLAP-1; Src-like-adapter protein 1; hSLAP", "protein_names_refseq": "SLAP-1; hSLAP; src-like-adapter isoform a; src-like-adapter protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6503); (R-HSA-9706369)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10449770;11179692;11237011;11696592;12024036;16684964;17110436;17446348;18088087;18192505;19276253;21072051;21262971;22438257;22942183;22952242;23300935;23548639;23707526;24284075;24705897;26154972;26308771;26992070;27458164;27666490;28086240;28611190;28904123;29242379;29493099;29557506;29880609;30429286;30779550;31066629;31154438;31156621;31848261;32157095;32357974;32897882;32983136;33123756;33691108;34185709;35051231;35561310;35580925;36284347;37938771;8825655;9020066;9660183", "class_list": "", "function": "Adapter protein, which negatively regulates T-cell receptor (TCR) signaling. Inhibits T-cell antigen-receptor induced activation of nuclear factor of activated T-cells. Involved in the negative regulation of positive selection and mitosis of T-cells. May act by linking signaling proteins such as ZAP70 with CBL, leading to a CBL dependent degradation of signaling proteins., [UniProtKB, PubMed, PubMed]; SLAP Is a Negative Regulator of FcepsilonRI Receptor-Mediated Signaling and Allergic Response. 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": 5, "reported_mutagensis": 5, "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": "B7Z4J2;B7Z4L6;Q6FI01;Q9UMQ8", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0005154 epidermal growth factor receptor binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0043408 regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q13239-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXG8-1", "uniprot_id": [ { "id": "SPZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXG8", "type": "external" } ], "mass": 49445.0, "length": 430, "protein_name": "Spermatogenic leucine zipper protein 1", "gene_name": "SPZ1", "organism": "Human", "refseq_name": "spermatogenic leucine zipper protein 1", "refseq_ac": [ { "id": "NP_115956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115956", "type": "external" } ], "gene_names_uniprotkb": "SPZ1; TSP1", "gene_names_refseq": "CILD38; NYD-TSP1; PPP1R148; SPZ1", "protein_names_uniprotkb": "Spermatogenic leucine zipper protein 1; Testis-specific protein 1; Testis-specific protein NYD-TSP1", "protein_names_refseq": "protein phosphatase 1, regulatory subunit 148; spermatogenic leucine zipper protein 1; spermatogenic zip 1; testis secretory sperm-binding protein Li 232m; testis-specific protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84654)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12778315;15899793;28832583;29242379;29557506;30379171;31844290;33592498;33616619;34076982;34087483", "class_list": "", "function": "Highly expressed in adult testis; may play an important role in spermatogenesis in the humans, [RefSeq, PubMed]; SPZ1 promotes glioma aggravation via targeting CXXC4., [RefSeq, PubMed]; TSP1 is the essential domain of SEMA5A involved in pannus formation in rheumatoid arthritis., [RefSeq, PubMed]; This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011]., [RefSeq]; Transcription factor that binds to the DNA sequence 5'-CANNTG-3'(E box) and the G-box motif. May play an important role in the regulation of cell proliferation and differentiation during spermatogenesis (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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "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": "B2RA21;Q8N4P1;Q8N7E9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9BXG8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3Y6-1", "uniprot_id": [ { "id": "SRMS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3Y6", "type": "external" } ], "mass": 54507.0, "length": 488, "protein_name": "Tyrosine-protein kinase Srms", "gene_name": "SRMS", "organism": "Human", "refseq_name": "tyrosine-protein kinase Srms", "refseq_ac": [ { "id": "NP_543013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543013", "type": "external" } ], "gene_names_uniprotkb": "SRMS; C20orf148", "gene_names_refseq": "C20orf148; PTK70; SRMS; SRM; dJ697K14.1", "protein_names_uniprotkb": "Tyrosine-protein kinase Srms; 2.7.10.2", "protein_names_refseq": "tyrosine-protein kinase Srms", "tax_id": 9606, "disease": "", "pathway": " (hsa:6725); (R-HSA-8849472)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "17344846;23814047;23822091;25892735;25897081;29393594;29496907;32897882;32938616;33691108;33912179;33936100;33968037;34077419;35051231;35927303;36284347", "class_list": "", "function": "Non-receptor tyrosine-protein kinase which phosphorylates DOK1 on tyrosine residues (PubMed:23822091). Also phosphorylates KHDRBS1/SAM68 and VIM on tyrosine residues (PubMed:29496907). Phosphorylation of KHDRBS1 is EGF-dependent (PubMed:29496907). Phosphorylates OTUB1, promoting deubiquitination of RPTOR (PubMed:35927303)., [UniProtKB, PubMed, PubMed, PubMed]; The nonreceptor tyrosine kinase SRMS inhibits autophagy and promotes tumor growth by phosphorylating the scaffolding protein FKBP51. Publication Status: Online-Only, [RefSeq, PubMed]; The unique N-terminal region of SRMS regulates enzymatic activity and phosphorylation of its novel substrate docking protein 1., [RefSeq, PubMed]; Vimentin and Sam68, are identified as bona fide SRMS substrates through in vitro and in vivo assays., [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": 3, "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": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "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": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "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": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0004713 protein tyrosine kinase activity;GO:0004715 non-membrane spanning protein tyrosine kinase activity;GO:0005102 signaling receptor binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0018108 peptidyl-tyrosine phosphorylation;GO:0030154 cell differentiation;GO:0038083 peptidyl-tyrosine autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9H3Y6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UDY4-1", "uniprot_id": [ { "id": "DNJB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UDY4", "type": "external" } ], "mass": 37807.0, "length": 337, "protein_name": "DnaJ homolog subfamily B member 4", "gene_name": "DNAJB4", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 4 isoform a", "refseq_ac": [ { "id": "NP_001304028", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304028", "type": "external" } ], "gene_names_uniprotkb": "DNAJB4; DNAJW; HLJ1", "gene_names_refseq": "CMYO21; CMYP21; DNAJB4; DNAJW; DjB4; HLJ1", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 4; HSP40 homolog; Heat shock 40 kDa protein 1 homolog; Heat shock protein 40 homolog; Human liver DnaJ-like protein", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 4; DnaJ-like heat shock protein 40; HSP40 homolog; dnaJ homolog subfamily B member 4 isoform a; dnaJ homolog subfamily B member 4; heat shock 40 kDa protein 1 homolog; heat shock protein 40 homolog; human liver DnaJ-like protein", "tax_id": 9606, "disease": "congenital myopathy 21 (Disease Ontology:DOID:0081353); autosomal dominant limb-girdle muscular dystrophy type 1 (Disease Ontology:DOID:0110305); distal myopathy (Disease Ontology:DOID:11720)", "pathway": " (hsa:11080)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;15661747;15782117;16542645;18452278;18669648;18837411;20068231;21255413;24318877;25576301;25645385;25880248;26375851;26992070;27065329;27600516;27846572;27862975;28514659;28832583;28834231;29242379;29508533;29557506;29769354;30410026;30429286;30779550;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33592498;33981976;34019948;34932366;35051231;35154160;35580925;36082445;36215666;36241641;36264506;36284347;36344539;37510314;37938771;38665916;9546042", "class_list": "", "function": "A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk., [RefSeq, PubMed]; Human Endogenous Retrovirus-H-Derived miR-4454 Inhibits the Expression of DNAJB4 and SASH1 in Non-Muscle-Invasive Bladder Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Probable chaperone. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro) (PubMed:24318877)., [UniProtKB, PubMed]; Results indicate that DjA1 and DjB4 of subfamilies A and B of human Hsp40 have different quaternary structures and chaperone functions., [RefSeq, PubMed]; The increase in HLJ1 and E-cadherin expression, as well as the suppression of invasion ability, can be reversed specifically by HLJ1 siRNA., [RefSeq, PubMed]; The protein encoded by this gene is a molecular chaperone, tumor suppressor, and member of the heat shock protein-40 family. The encoded protein binds the cell adhesion protein E-cadherin and targets it to the plasma membrane. This protein also binds incorrectly folded E-cadherin and targets it for endoplasmic reticulum-associated degradation. This gene is a strong tumor suppressor for colorectal carcinoma, and downregulation of it may serve as a good biomarker for predicting patient outcomes. Several transcript variants encoding different isoforms have been found for this gene. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R824;Q13431", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030018 Z disc", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006457 protein folding;GO:0009408 response to heat;GO:0006986 response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9UDY4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DN84-1", "uniprot_id": [ { "id": "DWORF_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DN84", "type": "external" } ], "mass": 3836.0, "length": 35, "protein_name": "Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF", "gene_name": "STRIT1", "organism": "Human", "refseq_name": "sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF", "refseq_ac": [ { "id": "NP_001339058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001339058", "type": "external" } ], "gene_names_uniprotkb": "STRIT1; DWORF", "gene_names_refseq": "DWORF; STRIT1", "protein_names_uniprotkb": "Sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF; DWORF; Dwarf open reading frame; SERCA regulator DWORF; Small transmembrane regulator of ion transport 1", "protein_names_refseq": "SERCA regulator DWORF; sarcoplasmic/endoplasmic reticulum calcium ATPase regulator DWORF", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507537)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "26816378;33581112;34075877;35605666;36523160", "class_list": "", "function": "Dwarf open reading frame (DWORF) is a direct activator of the sarcoplasmic reticulum calcium pump SERCA. Publication Status: Online-Only, [RefSeq, PubMed]; Enhances the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by displacing ATP2A1/SERCA1 inhibitors, thereby acting as a key regulator of skeletal muscle activity (By similarity). Also enhances the activity of the ATP2A2/SERCA2 ATPase (PubMed:33581112). Does not directly stimulate SERCA pump activity (By similarity). Binds preferentially to the phosphorylated E1 and E2 conformational forms of ATP2A2 which predominate at high Ca(2+) concentrations during the systolic phase of the cardiac cycle (By similarity). Competes with ATP2A2 inhibitor phospholamban (PLN) for binding to ATP2A2 and displaces PLN (PubMed:33581112). Can activate ATP2A2 directly in the absence of PLN (PubMed:33581112). Also enhances sarcoplasmic reticulum Ca(2+) uptake and myocyte contractility by displacing the SERCA inhibitory peptides sarcolipin (SLN) and myoregulin (MRLN) (By similarity)., [UniProtKB, UniProtKB, PubMed]; Inhibitory and stimulatory micropeptides preferentially bind to different conformations of the cardiac calcium pump., [RefSeq, PubMed]; The transmembrane peptide DWORF activates SERCA2a via dual mechanisms., [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": "A0A1B0GTW0", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0033017 sarcoplasmic reticulum membrane", "go_biological_process": "GO:0031449 regulation of slow-twitch skeletal muscle fiber contraction;GO:1901894 regulation of ATPase-coupled calcium transmembrane transporter activity;GO:1902082 positive regulation of calcium ion import into sarcoplasmic reticulum;GO:0106134 positive regulation of cardiac muscle cell contraction", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0DN84-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98172-1", "uniprot_id": [ { "id": "EFNB1_HUMAN", "url": "https://www.uniprot.org/uniprot/P98172", "type": "external" } ], "mass": 38007.0, "length": 346, "protein_name": "Ephrin-B1", "gene_name": "EFNB1", "organism": "Human", "refseq_name": "ephrin-B1 precursor", "refseq_ac": [ { "id": "NP_004420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004420", "type": "external" } ], "gene_names_uniprotkb": "EFNB1; EFL3; EPLG2; LERK2", "gene_names_refseq": "CFND; CFNS; EFB1; EFL3; EFNB1; EPLG2; Elk-L; LERK2", "protein_names_uniprotkb": "Ephrin-B1; EFL-3; ELK ligand; ELK-L; EPH-related receptor tyrosine kinase ligand 2; LERK-2", "protein_names_refseq": "ELK ligand; eph-related receptor tyrosine kinase ligand 2; ephrin-B1 precursor", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); craniofrontonasal syndrome (Disease Ontology:DOID:14737); dysostosis (Disease Ontology:DOID:1934)", "pathway": " (hsa:1947); (R-HSA-2682334); (R-HSA-3928662); (R-HSA-3928664); (R-HSA-3928665)", "pathway_count": 5, "publication_count": 79, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10047984;10197531;10219243;10848605;10995436;11058585;11134074;11448999;11466320;11557983;11580899;11747816;11780069;11804587;11983165;12084815;12495863;12546821;12676796;12695502;12702722;12973357;14988728;15124102;15166289;15340161;15351694;15378065;15548136;15721239;15800193;15848800;15959873;16298995;16511561;16930449;17016520;17310244;17322526;17389395;17428795;17440041;17548511;17928214;18669648;18713744;19525919;19553453;19915143;20068231;20496116;20565770;21429299;2201922;23090970;23186163;23335590;23584533;24190977;25436983;25813380;29779877;30379171;30429286;32350084;33214551;34019948;35051231;35603962;36241641;37074911;38253038;7478585;7973638;8070404;9499402", "class_list": "", "function": "Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:7973638, PubMed:8070404). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:7973638, PubMed:8070404). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:7973638, PubMed:8070404). Can also bind EPHB2 and EPHB3 (PubMed:8070404). Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Construction of three-gene-based prognostic signature and analysis of immune cells infiltration in children and young adults with B-acute lymphoblastic leukemia., [RefSeq, PubMed]; The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]; We report the identification of mosaic EFNB1 mutations in every individual with craniofrontonasal syndrome, confirming the suggested diagnosis and supporting the hypothesis of cellular interference in humans., [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": 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": 2, "reported_phosphosites": 8, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 3, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "D3DVU0", "ec_number_list": [], "go_molecular_function": "GO:0046875 ephrin receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007155 cell adhesion;GO:0007267 cell-cell signaling;GO:0048013 ephrin receptor signaling pathway;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "P98172-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07687-1", "uniprot_id": [ { "id": "DLX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07687", "type": "external" } ], "mass": 34243.0, "length": 328, "protein_name": "Homeobox protein DLX-2", "gene_name": "DLX2", "organism": "Human", "refseq_name": "homeobox protein DLX-2", "refseq_ac": [ { "id": "NP_004396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004396", "type": "external" } ], "gene_names_uniprotkb": "DLX2", "gene_names_refseq": "DLX2; TES-1; TES1", "protein_names_uniprotkb": "Homeobox protein DLX-2", "protein_names_refseq": "distal-less homeo box 2; homeobox protein DLX-2", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667); permanent neonatal diabetes mellitus (Disease Ontology:DOID:0060639); type 1 diabetes mellitus 2 (Disease Ontology:DOID:0110741); maturity-onset diabetes of the young type 10 (Disease Ontology:DOID:0111108); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); gestational diabetes (Disease Ontology:DOID:11714); pancreatic cancer (Disease Ontology:DOID:1793); hyperuricemia (Disease Ontology:DOID:1920); hyperinsulinism (Disease Ontology:DOID:2018); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); insulinoma (Disease Ontology:DOID:3892); cholangiocarcinoma (Disease Ontology:DOID:4947); osteoarthritis (Disease Ontology:DOID:8398); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:1746)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "18220336;18669648;28904123;30861584;31154438;32165291;32938616;32977948;33298915;33912179;35251023;36317140;37286519;7590232;7901126;7907794;8812481", "class_list": "", "function": "Acts as a transcriptional activator (By similarity). Activates transcription of CGA/alpha-GSU, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity). Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis (By similarity)., [UniProtKB, UniProtKB]; DLX2 Is a Potential Immune-Related Prognostic Indicator Associated with Remodeling of Tumor Microenvironment in Lung Squamous Cell Carcinoma: An Integrated Bioinformatical Analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of ventral telencephalon transcription factors ASCL1 and DLX2 in the early fetal human cerebral cortex., [RefSeq, PubMed]; JMJD3 is Involved in Intracranial Aneurysm Development by Regulating DLX2 Expression through H3K27me3 Modification., [RefSeq, PubMed]; Knockdown of circ_HIPK3 inhibits tumorigenesis of hepatocellular carcinoma via the miR-582-3p/DLX2 axis., [RefSeq, PubMed]; Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 2. [provided by RefSeq, Jul 2008]., [RefSeq]; Provides the sequence of human DLX2 and compares it to the murine gene., [RefSeq, PubMed]; Results in mutated mice suggest that Dlx2 controls development of branchial arches and the forebrian, suggesting a role in craniofacil evolution, [RefSeq, PubMed]; Results suggest that by up-regulation of Wnt/beta-Catenin signaling, DLX2 accelerated human osteogenic differentiation., [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": 19, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DMK4;B7ZA14", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0003727 single-stranded RNA binding;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0046533 negative regulation of photoreceptor cell differentiation;GO:1902871 positive regulation of amacrine cell differentiation;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q07687-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14152-1", "uniprot_id": [ { "id": "EIF3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14152", "type": "external" } ], "mass": 166569.0, "length": 1382, "protein_name": "Eukaryotic translation initiation factor 3 subunit A", "gene_name": "EIF3A", "organism": "Human", "refseq_name": "eukaryotic translation initiation factor 3 subunit A", "refseq_ac": [ { "id": "NP_003741", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003741", "type": "external" } ], "gene_names_uniprotkb": "EIF3A; EIF3S10; KIAA0139", "gene_names_refseq": "EIF3A; EIF3S10; EIF3; P167; TIF32; eIF3-p170; eIF3-theta; p180; p185", "protein_names_uniprotkb": "Eukaryotic translation initiation factor 3 subunit A; Eukaryotic translation initiation factor 3 subunit 10; eIF-3-theta; eIF3 p167; eIF3 p180; eIF3 p185; eIF3a", "protein_names_refseq": "EIF3, p180 subunit; centrosomin homolog; cytoplasmic protein p167; eIF-3-theta; eIF3 p167; eIF3 p180; eIF3 p185; eukaryotic translation initiation factor 3 subunit 10; eukaryotic translation initiation factor 3 subunit A; eukaryotic translation initiation factor 3, subunit 10 (theta, 150/170kD); eukaryotic translation initiation factor 3, subunit 10 (theta, 170kD); eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa; eukaryotic translation initiation factor 3, subunit 10, 170kD", "tax_id": 9606, "disease": "leiomyoma (Disease Ontology:DOID:127); Huntington's disease (Disease Ontology:DOID:12858); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:8661); (R-HSA-156827); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706)", "pathway_count": 7, "publication_count": 162, "publication_id_list": "10.1101/2023.09.13.557529;10364207;10659855;1095581;11018020;1104615;11169732;12493757;12588972;14519125;14567916;14688252;15703437;16322461;16766523;17081983;17322308;17468741;17581632;18056426;18083107;18212344;1856230;18599441;18669648;19608861;19651622;19664994;19664995;19690332;20068231;20166139;22424782;23186163;23481700;23646949;23766293;24275569;24357634;24366607;24714562;24715725;24979134;25418920;25469497;25576301;25645385;25802875;25810538;25849773;26024233;26154972;26728094;26811146;26853435;26992070;27462815;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30484775;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34725712;34887587;34932366;35051231;35138101;35154160;35279705;35318648;35494241;35561310;35580925;35595099;35708211;36010968;36215666;36241641;36284347;37155573;37768948;37938771;38665916;40596516;40914422;429297;592398;592399;641056;6853548;6901506;7000367;8943342;9045610;9054404;9150439;9732867;9857202", "class_list": "", "function": "(Microbial infection) Essential for the initiation of translation on type-1 viral ribosomal entry sites (IRESs), like for HCV, PV, EV71 or BEV translation (PubMed:23766293, PubMed:24357634)., [UniProtKB, PubMed, PubMed]; (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]; EIF3 mRNA selectivity profiling reveals eIF3k as a cancer-relevant regulator of ribosome content., [RefSeq, PubMed]; EIF3a regulation of mTOR signaling and translational control via HuR in cellular response to DNA damage., [RefSeq, PubMed]; RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis (PubMed:17581632, PubMed:25849773). 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:11169732, PubMed:17581632). 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, PubMed:27462815)., [UniProtKB, HAMAP, PubMed, PubMed, PubMed, PubMed]; The Helix-Loop-Helix motif of human EIF3A regulates translation of proliferative cellular mRNAs. Publication Status: Online-Only, [RefSeq, PubMed]; Translation initiation factor eIF3a regulates glucose metabolism and cell proliferation via promoting small GTPase Rheb synthesis and AMPK activation., [RefSeq, PubMed]; YTHDF3 Facilitates eIF2AK2 and eIF3A Recruitment on mRNAs to Regulate Translational Processes in Oxaliplatin-Resistant Colorectal 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": 2, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B1AMV5;B4DYS1;F5H335;O00653;Q15778", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0005198 structural molecule activity;GO:0030971 receptor tyrosine kinase binding;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0014069 postsynaptic density;GO:0016020 membrane", "go_biological_process": "GO:0002188 translation reinitiation;GO:0075522 IRES-dependent viral translational initiation;GO:0006413 translational initiation;GO:0070373 negative regulation of ERK1 and ERK2 cascade;GO:0001732 formation of cytoplasmic translation initiation complex", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q14152-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14232-1", "uniprot_id": [ { "id": "EI2BA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14232", "type": "external" } ], "mass": 33712.0, "length": 305, "protein_name": "Translation initiation factor eIF2B subunit alpha", "gene_name": "EIF2B1", "organism": "Human", "refseq_name": "translation initiation factor eIF2B subunit alpha", "refseq_ac": [ { "id": "NP_001405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001405", "type": "external" } ], "gene_names_uniprotkb": "EIF2B1; EIF2BA", "gene_names_refseq": "EIF2B1; EIF2BA; EIF2Balpha; EIF2B; VWM1", "protein_names_uniprotkb": "Translation initiation factor eIF2B subunit alpha; eIF2B GDP-GTP exchange factor subunit alpha", "protein_names_refseq": "eIF-2B GDP-GTP exchange factor subunit alpha; eIF2B GDP-GTP exchange factor subunit alpha; eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa; translation initiation factor eIF2B subunit alpha", "tax_id": 9606, "disease": "leukoencephalopathy with vanishing white matter (Disease Ontology:DOID:0060868); leukoencephalopathy with vanishing white matter 1 (Disease Ontology:DOID:0070374)", "pathway": " (hsa:1967); (R-HSA-72731)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "11237011;11835386;15776425;19608861;20068231;23481700;2491852;25576301;25645385;25858979;26992070;27023709;28218747;28514659;28832583;28834231;28904123;29242379;29437277;29557506;29786170;30315122;30379171;30410026;30429286;30524438;31048492;31154438;31844290;31848261;31882561;31937595;32157095;32350084;32387766;32488085;32897882;32938616;32983136;33298915;3356695;33592498;33691108;33717175;33968037;34019948;34229054;34357683;34561969;34932366;35051231;35580925;36242870;40596516;40914422", "class_list": "", "function": "Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (PubMed:25858979, PubMed:31048492)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Our results establish de novo EIF2B1 mutations as a novel cause of permanent diabetes and liver dysfunction. These findings confirm the importance of cell stress regulation for beta-cells and highlight EIF2B1's fundamental role within this pathway., [RefSeq, PubMed]; Shielding the mRNA-translation factor eIF2B from inhibitory p-eIF2 as a viral strategy to evade protein kinase R-mediated innate immunity. Review article, [RefSeq, PubMed]; This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [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": 0, "reported_glycation": 0, "reported_snv": 9, "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": "A6NLY9;B4DGX0;Q3SXP4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0003743 translation initiation factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005851 eukaryotic translation initiation factor 2B complex", "go_biological_process": "GO:0002183 cytoplasmic translational initiation;GO:0050852 T cell receptor signaling pathway;GO:0006413 translational initiation;GO:0009749 response to glucose;GO:0043434 response to peptide hormone", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q14232-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5Q5-1", "uniprot_id": [ { "id": "DPOLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5Q5", "type": "external" } ], "mass": 100307.0, "length": 900, "protein_name": "DNA polymerase nu", "gene_name": "POLN", "organism": "Human", "refseq_name": "DNA polymerase nu", "refseq_ac": [ { "id": "NP_861524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861524", "type": "external" } ], "gene_names_uniprotkb": "POLN", "gene_names_refseq": "POL4P; POLN", "protein_names_uniprotkb": "DNA polymerase nu; 2.7.7.7", "protein_names_refseq": "DNA polymerase N; DNA polymerase POL4P; DNA polymerase nu; polymerase (DNA directed) nu; polymerase (DNA) nu", "tax_id": 9606, "disease": "", "pathway": " (hsa:353497); (R-HSA-6783310)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "11237011;11239454;12794064;15572677;16787914;16916645;16943440;17118716;17289582;17412408;17460694;17938197;18082604;18174376;18931676;19111657;19561358;19589784;19596236;19908865;19995904;20102227;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;21464321;21701511;21764741;22258451;22287633;22396592;22510687;22692201;23325218;23698467;23723247;24076221;24389026;24623813;24726325;24905007;25430771;25500724;25775266;29437277;29557506;31844290;32157095;33175093;33392160;33592498;33633747;34088846;34171305;34461101;35051231;35815634;36116213;39894887", "class_list": "", "function": "DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dT regardless of template sequence (PubMed:25775266). May play a role in TLS during interstrand cross-link (ICL) repair (PubMed:19908865). May be involved in TLS when genomic replication is blocked by extremely large major groove DNA lesions. May function in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linking agents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with HELQ helicase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DNA polymerases eta and kappa bypass N(2)-guanine-O(6)-alkylguanine DNA alkyltransferase cross-linked DNA-peptides., [RefSeq, PubMed]; Described is a novel translesion DNA synthesis substrate specificity of pol nu, demonstrating that it is able to bypass exceptionally large DNA lesions whose linkages are through the DNA major groove., [RefSeq, PubMed]; Identification as homolog to Mus308, [RefSeq, PubMed]; Multiple deprotonation paths of the nucleophile 3'-OH in the DNA synthesis reaction., [RefSeq, PubMed]; Next-Generation Sequencing-Based Analysis of the Roles of DNA Polymerases nu and theta in the Replicative Bypass of 8-Oxo-7,8-dihydroguanine in Human Cells., [RefSeq, PubMed]; Pol nu error rates for all 12 single base-base mismatches and for insertion and deletion errors, [RefSeq, PubMed]; Rare POLN mutations confer risk for familial nasopharyngeal carcinoma through weakened Epstein-Barr virus lytic replication., [RefSeq, PubMed]; The DNA cross-linking agent mitomycin C hypersensitivity of PolN knockdown cells is rescued by overexpression of DNA polymerase-proficient PolN but not by DNA polymerase-deficient PolN., [RefSeq, PubMed]; The recently discovered polymerase POLN identified here is involved in repair of DNA cross-links., [RefSeq, PubMed]; This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]., [RefSeq]; Translesion synthesis of the major nitrogen mustard-induced DNA lesion by human DNA polymerase eta., [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": 3, "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": "A2A336;B4E158;Q4TTW4;Q6ZNF4", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "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": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0030332 cyclin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006302 double-strand break repair;GO:0000724 double-strand break repair via homologous recombination;GO:0036297 interstrand cross-link repair;GO:0019985 translesion synthesis;GO:0006261 DNA-templated DNA replication", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q7Z5Q5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6W7-1", "uniprot_id": [ { "id": "DNJB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6W7", "type": "external" } ], "mass": 35434.0, "length": 309, "protein_name": "DnaJ homolog subfamily B member 7", "gene_name": "DNAJB7", "organism": "Human", "refseq_name": "dnaJ homolog subfamily B member 7", "refseq_ac": [ { "id": "NP_660157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660157", "type": "external" } ], "gene_names_uniprotkb": "DNAJB7; HSC3", "gene_names_refseq": "DJ5; DNAJB7; HSC3", "protein_names_uniprotkb": "DnaJ homolog subfamily B member 7", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily B, member 7; dnaJ homolog subfamily B member 7; novel DnaJ domain protein", "tax_id": 9606, "disease": "autosomal dominant limb-girdle muscular dystrophy type 1 (Disease Ontology:DOID:0110305)", "pathway": " (hsa:150353)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "19664994;32502341", "class_list": "", "function": "Probably acts as a co-chaperone., [UniProtKB]; The protein encoded by this intronless gene belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus; a glycine/phenylalanine (G/F)-rich region; and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain.[provided by RefSeq, Mar 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": 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": "Q2M220;Q5H904;Q8WYJ7", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0051087 protein-folding chaperone binding;GO:0030544 Hsp70 protein binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q7Z6W7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8A6-1", "uniprot_id": [ { "id": "DDX51_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8A6", "type": "external" } ], "mass": 72457.0, "length": 666, "protein_name": "ATP-dependent RNA helicase DDX51", "gene_name": "DDX51", "organism": "Human", "refseq_name": "ATP-dependent RNA helicase DDX51", "refseq_ac": [ { "id": "NP_778236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_778236", "type": "external" } ], "gene_names_uniprotkb": "DDX51", "gene_names_refseq": "DDX51", "protein_names_uniprotkb": "ATP-dependent RNA helicase DDX51; 3.6.4.13; DEAD box protein 51", "protein_names_refseq": "ATP-dependent RNA helicase DDX51; DEAD (Asp-Glu-Ala-Asp) box polypeptide 51; DEAD box protein 51", "tax_id": 9606, "disease": "", "pathway": " (hsa:317781)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "15302935;17081983;18452278;18669648;18691976;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20068231;21406692;22223895;23186163;23481700;24275569;24715725;25418920;25576301;25645385;26154972;26375851;27198888;27600516;27846572;27862975;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29493099;29508533;29557506;29632711;29789417;30315122;30429286;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35580925;36010968;36241641;36284347;37938771;40914422", "class_list": "", "function": "ATP-binding RNA helicase involved in the biogenesis of 60S ribosomal subunits., [UniProtKB]; These data suggest that DDX51 aids cell cancer proliferation by regulating multiple signaling pathways 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": 5, "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": "A8MPT9;Q5CZ71;Q8IXK5;Q96ED1", "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_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0016020 membrane", "go_biological_process": "GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q8N8A6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFW5-1", "uniprot_id": [ { "id": "DMBX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFW5", "type": "external" } ], "mass": 41198.0, "length": 382, "protein_name": "Diencephalon/mesencephalon homeobox protein 1", "gene_name": "DMBX1", "organism": "Human", "refseq_name": "diencephalon/mesencephalon homeobox protein 1 isoform b", "refseq_ac": [ { "id": "NP_671725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_671725", "type": "external" } ], "gene_names_uniprotkb": "DMBX1; MBX; OTX3; PAXB", "gene_names_refseq": "Atx; DMBX1; MBX; OTX3; PAXB", "protein_names_uniprotkb": "Diencephalon/mesencephalon homeobox protein 1; Orthodenticle homolog 3; Paired-like homeobox protein DMBX1", "protein_names_refseq": "diencephalon/mesencephalon homeobox protein 1 isoform b; homeoprotein MBX; orthodenticle homolog 3; paired-like homeobox protein DMBX1", "tax_id": 9606, "disease": "", "pathway": " (hsa:127343)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12055180;12142024;17990594;18669648;27980695;30237576;30379171;30928384;31154438;31844290;35051231", "class_list": "", "function": "Authors found that the function of DMBX1 was dependent on p21 (CDKN1A), a key regulator of G1/S cell cycle progression. Co-IP assay revealed that DMBX1 directly bound to another homeobox transcription factor, OTX2. ChIP and luciferase reporter assay confirmed that OTX2 directly interacted with the promoter region of p21 to enhance its transcription, and DMBX1 repressed OTX2-mediated transcription of p21., [RefSeq, PubMed]; Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5'-TAATCCGATTA-3') sequence. Required for brain development (By similarity)., [UniProtKB]; No indications were found for an association between the MBX gene and microphthalmia with congenital cataract in humans, [RefSeq, PubMed]; Results found that CpG sites of C1orf106, DMBX1, and SIK3 mediate the genetic risk of psoriasis in Chinese Han population. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct isoforms have been identified 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NNN2;Q8NFW6;Q8NHD9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0042802 identical protein 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_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:0045892 negative regulation of DNA-templated transcription;GO:0007417 central nervous system development;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NFW5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVE0-1", "uniprot_id": [ { "id": "EFMT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVE0", "type": "external" } ], "mass": 24506.0, "length": 214, "protein_name": "EEF1A lysine methyltransferase 1", "gene_name": "EEF1AKMT1", "organism": "Human", "refseq_name": "EEF1A lysine methyltransferase 1", "refseq_ac": [ { "id": "NP_001305868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305868", "type": "external" } ], "gene_names_uniprotkb": "EEF1AKMT1; N6AMT2", "gene_names_refseq": "EEF1AKMT1; ESP13; N6AMT2; eEF1A-KMT", "protein_names_uniprotkb": "EEF1A lysine methyltransferase 1; 2.1.1.-; N(6)-adenine-specific DNA methyltransferase 2; Protein-lysine N-methyltransferase N6AMT2; eEF1A-KMT", "protein_names_refseq": "EEF1A lysine methyltransferase 1; N-6 adenine-specific DNA methyltransferase 2 (putative); eukaryotic translation elongation factor 1 alpha lysine methyltransferase 1; n(6)-adenine-specific DNA methyltransferase 2; protein-lysine N-methyltransferase N6AMT2", "tax_id": 9606, "disease": "", "pathway": " (hsa:221143); (R-HSA-8876725)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "16118227;18390568;19413330;23186163;23349634;25144183;25231979;25416781;26545399;27920218;28228285;28663172;28904123;31844290;32157095;32938616;33968037", "class_list": "", "function": "Data indicate that the methylation of lysine (Lys) in elongation factor 1A (eEF1A) by methyltransferase is conserved from yeast to human., [RefSeq, PubMed]; Protein N-lysine methyltransferase that selectively catalyzes the trimethylation of EEF1A at 'Lys-79'., [UniProtKB, HAMAP, 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": "B5G4V1", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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:0003676 nucleic acid binding;GO:0008168 methyltransferase activity;GO:0016279 protein-lysine N-methyltransferase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006479 protein methylation;GO:0018022 peptidyl-lysine methylation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8WVE0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92988-1", "uniprot_id": [ { "id": "DLX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92988", "type": "external" } ], "mass": 26263.0, "length": 240, "protein_name": "Homeobox protein DLX-4", "gene_name": "DLX4", "organism": "Human", "refseq_name": "homeobox protein DLX-4 isoform b", "refseq_ac": [ { "id": "NP_001925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001925", "type": "external" } ], "gene_names_uniprotkb": "DLX4; BP1; DLX7; DLX8; DLX9", "gene_names_refseq": "BP1; DLX4; DLX7; DLX8; DLX9; OFC15", "protein_names_uniprotkb": "Homeobox protein DLX-4; Beta protein 1; Homeobox protein DLX-7; Homeobox protein DLX-8", "protein_names_refseq": "beta protein 1; distal-less homeo box 7; distal-less homeo box 9; homeobox protein DLX-4 isoform b; homeobox protein DLX-4; homeobox protein DLX-7; homeobox protein DLX-8", "tax_id": 9606, "disease": "Donohue syndrome (Disease Ontology:DOID:0050470); alcohol dependence (Disease Ontology:DOID:0050741); pre-malignant neoplasm (Disease Ontology:DOID:0060071); familial hyperinsulinemic hypoglycemia 5 (Disease Ontology:DOID:0070220); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); orofacial cleft 15 (Disease Ontology:DOID:0080408); short bowel syndrome (Disease Ontology:DOID:10605); Alzheimer's disease (Disease Ontology:DOID:10652); gestational diabetes (Disease Ontology:DOID:11714); hepatic encephalopathy (Disease Ontology:DOID:13413); Parkinson's disease (Disease Ontology:DOID:14330); breast cancer (Disease Ontology:DOID:1612); cancer (Disease Ontology:DOID:162); prostate adenocarcinoma (Disease Ontology:DOID:2526); high grade glioma (Disease Ontology:DOID:3070); choriocarcinoma (Disease Ontology:DOID:3594); glucose metabolism disease (Disease Ontology:DOID:4194); seminoma (Disease Ontology:DOID:4440); renal cell carcinoma (Disease Ontology:DOID:4450); sleep disorder (Disease Ontology:DOID:535); hepatocellular carcinoma (Disease Ontology:DOID:684); chronic kidney disease (Disease Ontology:DOID:784); diabetic retinopathy (Disease Ontology:DOID:8947); diabetes mellitus (Disease Ontology:DOID:9351); type 2 diabetes mellitus (Disease Ontology:DOID:9352); steatotic liver disease (Disease Ontology:DOID:9452); diabetic neuropathy (Disease Ontology:DOID:9743); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1748)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11069021;11237011;11792834;11909945;25954033;29557506;29575937;29738288;31100338;32281175;35051231;35883028;8975708;9073066;9467018", "class_list": "", "function": "DNA methylation-mediated differential expression of DLX4 isoforms has opposing roles in leukemogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Homeodomain protein DLX4 facilitates nasopharyngeal carcinoma progression via up-regulation of YB-1., [RefSeq, PubMed]; Indicated the hypothesis that DLX4 variants contributing to nonsyndromic orofacial cleft risk should be interpreted with caution, [RefSeq, PubMed]; Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the other isoform lacks that function. [provided by RefSeq, Jul 2008]., [RefSeq]; May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis., [UniProtKB, PubMed, PubMed]; Results demonstrate that high expression of BP1 is associated with poor prognosis in patients with endometrial cancer and promotes cell proliferation and migration., [RefSeq, PubMed]; The role of BP1 protein in tumorigenesis of breast cancer and four other malignancies 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": 2, "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": "D3DTX2;D3DTX3;O60480;Q13265;Q6PJK0;Q9HBE0", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor 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:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0006355 regulation of DNA-templated transcription;GO:0048706 embryonic skeletal system development", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q92988-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96F81-1", "uniprot_id": [ { "id": "DISP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96F81", "type": "external" } ], "mass": 170934.0, "length": 1524, "protein_name": "Protein dispatched homolog 1", "gene_name": "DISP1", "organism": "Human", "refseq_name": "protein dispatched homolog 1 isoform 1", "refseq_ac": [ { "id": "NP_116279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116279", "type": "external" } ], "gene_names_uniprotkb": "DISP1; DISPA", "gene_names_refseq": "DISP1; DISPA; HPE10", "protein_names_uniprotkb": "Protein dispatched homolog 1", "protein_names_refseq": "dispatched A; protein dispatched homolog 1 isoform 1; protein dispatched homolog 1", "tax_id": 9606, "disease": "holoprosencephaly 10 (MONDO:MONDO:0976262)", "pathway": " (hsa:84976)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19184110;22902404;24715725;25418920;25576301;27846572;29331515;30429286;31092671;31844290;32157095;32646883;32938616;33968037;34308968;34357683;34845226;35051231;35580925;38529886", "class_list": "", "function": "Conserved cholesterol-related activities of Dispatched 1 drive Sonic hedgehog shedding from the cell membrane., [RefSeq, PubMed]; DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations., [RefSeq, PubMed]; Describe two independent families with truncating mutations in DISP1 that resemble the cardinal craniofacial and neuro-developmental features of a recently described microdeletion syndrome that includes this gene, [RefSeq, PubMed]; Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause an increase in SHH secretion (PubMed:22902404)., [UniProtKB, PubMed, UniProtKB]; Structural insights into proteolytic activation of the human Dispatched1 transporter for Hedgehog morphogen release. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of human Dispatched-1 provides insights into Hedgehog ligand biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "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": 5, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 9781, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q8N7C2;Q96I92;Q9H698;Q9H8H9;Q9UFA2", "ec_number_list": [], "go_molecular_function": "GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0015833 peptide transport;GO:0050708 regulation of protein secretion;GO:0007224 smoothened signaling pathway;GO:0060539 diaphragm development", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96F81-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GE9-1", "uniprot_id": [ { "id": "DMAC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GE9", "type": "external" } ], "mass": 12257.0, "length": 116, "protein_name": "Distal membrane-arm assembly complex protein 1", "gene_name": "DMAC1", "organism": "Human", "refseq_name": "distal membrane-arm assembly complex protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001304987", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304987", "type": "external" } ], "gene_names_uniprotkb": "DMAC1; C9orf123; TMEM261", "gene_names_refseq": "C9orf123; DMAC1; TMEM261", "protein_names_uniprotkb": "Distal membrane-arm assembly complex protein 1; Transmembrane protein 261", "protein_names_refseq": "distal membrane arm assembly complex 1; distal membrane-arm assembly complex protein 1 isoform 1; distal membrane-arm assembly complex protein 1; transmembrane protein 261; transmembrane protein C9orf123", "tax_id": 9606, "disease": "", "pathway": " (hsa:90871); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "11220739;17936786;19240061;19752196;20406883;20552642;20858599;21924235;23481700;23553477;24191001;24715725;25576301;25678554;26992070;27452731;27499296;27600516;27626371;28218747;28228285;28411811;28446606;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29786170;30315122;30429286;30524438;30779550;31154438;31217245;31666358;31844290;31866046;32157095;32161166;32320651;32387766;32897882;32938616;32983136;33298915;33691108;33879611;33882309;34357683;34509645;35051231;35318648;35333655;35561310;35580925;35614220;36241641;38199007;9571201", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Required for the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Involved in the assembly of the distal region of complex I., [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9B7;Q5T6Y9;Q9NT74", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q96GE9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99704-1", "uniprot_id": [ { "id": "DOK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99704", "type": "external" } ], "mass": 52392.0, "length": 481, "protein_name": "Docking protein 1", "gene_name": "DOK1", "organism": "Human", "refseq_name": "docking protein 1 isoform b", "refseq_ac": [ { "id": "NP_001184189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184189", "type": "external" } ], "gene_names_uniprotkb": "DOK1", "gene_names_refseq": "DOK1; P62DOK; pp62", "protein_names_uniprotkb": "Docking protein 1; Downstream of tyrosine kinase 1; p62(dok); pp62", "protein_names_refseq": "Downstream of tyrosine kinase 1; docking protein 1 isoform b", "tax_id": 9606, "disease": "Danon disease (Disease Ontology:DOID:0050437); traumatic brain injury (Disease Ontology:DOID:0081292); sciatic neuropathy (Disease Ontology:DOID:11446); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); cholestasis (Disease Ontology:DOID:13580); cognitive disorder (Disease Ontology:DOID:1561); chronic conjunctivitis (Disease Ontology:DOID:2475); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:1796); (R-HSA-8849469); (R-HSA-8853659)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10448070;10799545;10852966;10940083;10995764;11000521;11002419;11042170;11237011;11237712;11360177;11390647;11470823;11491658;11551902;11886862;12242309;12522270;12595900;12771945;14766744;15044950;15144186;15148308;15286081;15539407;15546884;15569713;15570572;15574499;15592455;16094384;16153436;16497976;17016520;18077418;18083107;18088087;18156175;18669648;18707149;19481542;19651622;19690332;19901323;20554524;20606012;23186163;23352614;23481700;23822091;24523872;24714562;24715725;25019382;25043303;25576301;26154972;26375851;26992070;27846572;27862975;27920218;28228285;28832583;28904123;29150948;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;31154438;31217245;31530632;31638742;31844290;31848261;31919752;31937595;31998317;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33912179;33968037;33981976;34171305;34211107;34509645;34727748;34932366;35051231;35251023;35580925;36010968;36284347;37507023;37938771;40307207;7665556;8628282;8631863;8637703;8662982;8663426;8674117;9008160;9047384;9192684;9299438;9407096;9491986;9764818;9883723", "class_list": "", "function": "Analysis of the DOK1 gene in breast cancer., [RefSeq, PubMed]; DOK proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. DOK1 appears to be a negative regulator of the insulin signaling pathway. Modulates integrin activation by competing with talin for the same binding site on ITGB3., [UniProtKB, PubMed]; Decreased DOK1/2 expressions associated with their promoter hypermethylations predict adverse prognosis in AML., [RefSeq, PubMed]; Diverse p120RasGAP interactions with doubly phosphorylated partners EphB4, p190RhoGAP, and Dok1., [RefSeq, PubMed]; Docking protein 1 and free fatty acids are associated with insulin resistance in patients with type 2 diabetes mellitus., [RefSeq, PubMed]; Nck adapter proteins promote podosome biogenesis facilitating extracellular matrix degradation and cancer invasion., [RefSeq, PubMed]; The protein encoded by this gene is part of a signal transduction pathway downstream of receptor tyrosine kinases. The encoded protein is a scaffold protein that helps form a platform for the assembly of multiprotein signaling complexes. Several 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 31, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 12, "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": "O43204;Q53TY2;Q9UHG6", "ec_number_list": [], "go_molecular_function": "GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q99704-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVJ7-1", "uniprot_id": [ { "id": "DUS23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVJ7", "type": "external" } ], "mass": 16588.0, "length": 150, "protein_name": "Dual specificity protein phosphatase 23", "gene_name": "DUSP23", "organism": "Human", "refseq_name": "dual specificity protein phosphatase 23", "refseq_ac": [ { "id": "NP_001306587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306587", "type": "external" } ], "gene_names_uniprotkb": "DUSP23; LDP3; VHZ", "gene_names_refseq": "DUSP23; DUSP25; LDP-3; LDP3; MOSP; VHZ", "protein_names_uniprotkb": "Dual specificity protein phosphatase 23; 3.1.3.16; 3.1.3.48; LDP-3; Low molecular mass dual specificity phosphatase 3; VH1-like phosphatase Z", "protein_names_refseq": "VH1-like member Z; VH1-like phosphatase Z; dual specificity protein phosphatase 23; low-molecular-mass dual-specificity phosphatase 3; testicular tissue protein Li 59", "tax_id": 9606, "disease": "", "pathway": " (hsa:54935)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "15147733;15201283;15281913;18245086;19913121;23481700;25576301;27737517;27920218;29557506;29632711;29789417;30429286;31154438;31848261;32265295;32387766;32938616;32983136;33592498;33968037;35580925;36010968", "class_list": "", "function": "DUSP23 showed distinctive phosphatase activity toward p-nitrophenyl phosphate, as well as oligopeptides containing phospho-tyrosine and phospho-threonine residues. Furthermore, DUSP23 could dephosphorylate p44ERK1 but not p38 and p54SAPKbeta in vitro, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protein phosphatase that mediates dephosphorylation of proteins phosphorylated on Tyr and Ser/Thr residues. In vitro, it can dephosphorylate p44-ERK1 (MAPK3) but not p54 SAPK-beta (MAPK10) in vitro. Able to enhance activation of JNK and p38 (MAPK14)., [UniProtKB, PubMed, PubMed]; The smallest active protein-tyrosine phosphatase yet (only 16 kDa) belongs to the group of small Vaccinia virus VH1-related dual specific phosphatases; gene is located on human chromosome 1q23.1 and consists of only two coding exons, [RefSeq, PubMed]; This study shows that DUSP23 mRNA levels in CD4+ T cells are higher in the systemic lupus erythematosus 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": 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": "Q9NX48", "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:0008138 protein tyrosine/serine/threonine phosphatase activity;GO:0016791 phosphatase activity;GO:0004725 protein tyrosine phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016311 dephosphorylation;GO:0060271 cilium assembly", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9BVJ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZT9-1", "uniprot_id": [ { "id": "EGLN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZT9", "type": "external" } ], "mass": 46021.0, "length": 426, "protein_name": "Egl nine homolog 1", "gene_name": "EGLN1", "organism": "Human", "refseq_name": "egl nine homolog 1 isoform 1", "refseq_ac": [ { "id": "NP_071334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071334", "type": "external" } ], "gene_names_uniprotkb": "EGLN1; C1orf12; PNAS-118; PNAS-137", "gene_names_refseq": "C1orf12; ECYT3; EGLN1; HALAH; HIF-PH2; HIFPH2; HPH-2; HPH2; PHD2; SM20; ZMYND6", "protein_names_uniprotkb": "Egl nine homolog 1; 1.14.11.29; HIF-PH2; HIF-prolyl hydroxylase 2; HPH-2; Hypoxia-inducible factor prolyl hydroxylase 2; PHD2; Prolyl hydroxylase domain-containing protein 2; SM-20", "protein_names_refseq": "HIF-prolyl hydroxylase 2; egl nine homolog 1 isoform 1; egl nine-like protein 1; hypoxia-inducible factor prolyl hydroxylase 2; prolyl hydroxylase domain-containing protein 2; zinc finger MYND domain-containing protein 6", "tax_id": 9606, "disease": "familial erythrocytosis 3 (Disease Ontology:DOID:0080338); hypertension (Disease Ontology:DOID:10763); acute kidney failure (Disease Ontology:DOID:3021); renal cell carcinoma (Disease Ontology:DOID:4450); myocardial infarction (Disease Ontology:DOID:5844); polycythemia (Disease Ontology:DOID:8432)", "pathway": " (hsa:54583); (R-HSA-1234176)", "pathway_count": 2, "publication_count": 93, "publication_id_list": "10535940;10823831;10878807;10944113;10973499;11024059;11056053;11237011;11292861;11292862;11358837;11454738;11504942;11574160;11595178;11595184;11598268;12101228;12163023;12181324;12351678;12538644;12615973;12670503;12788921;12821933;12912907;15247232;15474027;15652751;15897452;15987702;16407130;16738327;16782814;17182618;17434750;17579185;18063574;18184961;18337469;19208626;19339211;19604478;19631610;20068231;20466884;20838600;20840591;21335549;21601578;21792862;22286099;23186163;23301498;23836663;24681946;24711448;25129147;25576301;25974097;27397612;27846572;28199842;28411811;28510447;28594552;28832583;29242379;29557506;30429286;31844290;31848261;32157095;32488085;32897882;32938616;33141586;33392160;33592498;33968037;35051231;35580925;35810304;36284347;37217939;37975227;38287821;38291512;38400673;39209825;9122164;9891082", "class_list": "", "function": "A Case-Control Study of the Associations between EGLN1 Gene Polymorphisms and COPD., [RefSeq, PubMed]; Adipocyte deletion of the oxygen-sensor PHD2 sustains elevated energy expenditure at thermoneutrality. Publication Status: Online-Only, [RefSeq, PubMed]; Association of the C allele of rs479200 in the EGLN1 gene with COVID-19 severity in Indian population: a novel finding. Erratum:[Hum Genomics. 2024 Feb 8;18(1):17. doi: 10.1186/s40246-024-00584-x. PMID: 38331989] Publication Status: Online-Only, [RefSeq, PubMed]; Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF1B. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN1 is the most important isozyme under normoxia and, through regulating the stability of HIF1, involved in various hypoxia-influenced processes such as angiogenesis in retinal and cardiac functionality. Target proteins are preferentially recognized via a LXXLAP motif., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Low nuclear expression of HIF-hydroxylases PHD2/EGLN1 and PHD3/EGLN3 are associated with poor recurrence-free survival in clear cell renal cell carcinoma., [RefSeq, PubMed]; Prolyl hydroxylase 2 inhibits glycolytic activity in colorectal cancer via the NF-kappaB signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq, Nov 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": 3, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 1, "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": "Q8N3M8;Q9BZS8;Q9BZT0", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "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": "2.3.2.27", "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": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.29", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.29", "type": "external" } ], "go_molecular_function": "GO:0004857 enzyme inhibitor activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0008198 ferrous iron binding;GO:0031418 L-ascorbic acid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0014069 postsynaptic density", "go_biological_process": "GO:1902072 negative regulation of hypoxia-inducible factor-1alpha signaling pathway;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0001666 response to hypoxia;GO:0006879 intracellular iron ion homeostasis;GO:0071456 cellular response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9GZT9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3Z4-1", "uniprot_id": [ { "id": "DNJC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3Z4", "type": "external" } ], "mass": 22149.0, "length": 198, "protein_name": "DnaJ homolog subfamily C member 5", "gene_name": "DNAJC5", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 5", "refseq_ac": [ { "id": "NP_079495", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079495", "type": "external" } ], "gene_names_uniprotkb": "DNAJC5; CLN4", "gene_names_refseq": "CLN4B; CLN4; CSP; DNAJC5A; DNAJC5; mir-941-2; mir-941-3; mir-941-4; mir-941-5", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 5; CSP; Ceroid-lipofuscinosis neuronal protein 4; Cysteine string protein", "protein_names_refseq": "DnaJ (Hsp40) homolog, subfamily C, member 5; ceroid-lipofuscinosis neuronal protein 4; cysteine string protein alpha; dnaJ homolog subfamily C member 5", "tax_id": 9606, "disease": "neuronal ceroid lipofuscinosis 4 (Disease Ontology:DOID:0110720); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503)", "pathway": " (hsa:80331); (R-HSA-6798695); (R-HSA-888590); (R-HSA-9662360)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10025409;11017172;11163272;11214971;11604405;12750892;14997482;15926915;16243840;16722236;17081065;17081983;17322306;17924679;18088087;18452278;18510355;18669648;18707149;18767875;18951872;19375301;19608861;19651622;19664995;20058876;20068231;20166139;20230923;21406692;21820099;22073189;22235333;22902780;22978711;23186163;23650620;23719902;25502872;25548167;25576336;25800794;27452402;27452731;27846572;28832583;28882895;29242379;29317506;29557506;30626607;31020640;31154438;31844290;32157095;32350084;32357974;32938616;32983136;33592498;33912179;33968037;34078123;34357683;34932366;35154160;35251023;35506243;35561310;35580925;36308432;36626307;38348704;8692836;8764987", "class_list": "", "function": "Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPalpha mutants causes lipofuscin accumulation., [RefSeq, PubMed]; Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; LINC00624 affects hepatocellular carcinoma proliferation and apoptosis through the miR-342-3p/DNAJC5 axis., [RefSeq, PubMed]; The molecular chaperone cysteine string protein is required for monomeric SNARE proteins to assemble in trans-complexes during human sperm acrosomal exocytosisdagger., [RefSeq, PubMed]; This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]., [RefSeq]; Unconventional secretion of alpha-synuclein mediated by palmitoylated DNAJC5 oligomers. 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": 9, "reported_mutagensis": 3, "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": "A8K0M0;B3KY68;E1P5G8;Q9H3Z5;Q9H7H2", "ec_number_list": [], "go_molecular_function": "GO:0043008 ATP-dependent protein binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0045055 regulated exocytosis;GO:0006457 protein folding;GO:0006887 exocytosis;GO:0016079 synaptic vesicle exocytosis;GO:0098693 regulation of synaptic vesicle cycle", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q9H3Z4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5T4-1", "uniprot_id": [ { "id": "DJC15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5T4", "type": "external" } ], "mass": 16383.0, "length": 150, "protein_name": "DnaJ homolog subfamily C member 15", "gene_name": "DNAJC15", "organism": "Human", "refseq_name": "dnaJ homolog subfamily C member 15", "refseq_ac": [ { "id": "NP_037370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037370", "type": "external" } ], "gene_names_uniprotkb": "DNAJC15; DNAJD1; GIG22; HSD18", "gene_names_refseq": "DNAJC15; DNAJD1; HSD18; MCJ", "protein_names_uniprotkb": "DnaJ homolog subfamily C member 15; Cell growth-inhibiting gene 22 protein; MCJ; Methylation-controlled J protein", "protein_names_refseq": "DNAJ domain-containing; DnaJ (Hsp40) homolog, subfamily C, member 15; DnaJ (Hsp40) homolog, subfamily D, member 1; cell growth-inhibiting gene 22 protein; dnaJ homolog subfamily C member 15; methylation-controlled J protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:29103)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1038/emboj.2013.79;11358853;14729589;18669648;23263864;23530063;23584533;24715725;25418920;25576301;26154972;26992070;27846572;27893789;27920218;28218747;28832583;28904123;29242379;29437277;29557506;29632711;30315122;30429286;31154438;31844290;31848261;31953445;32157095;32387766;32488085;32620763;32938616;32983136;33298915;33392160;33912179;33936100;33968037;33981976;34357683;34932366;35051231;35580925;36010968;36215666;36241641;37938771;38241373", "class_list": "", "function": "Loss of expression of MCJ by DNA methylation is associated with drug-resistance in ovarian cancer, [RefSeq, PubMed]; MCJ: A mitochondrial target for cardiac intervention in pulmonary hypertension., [RefSeq, PubMed]; Negative regulator of the mitochondrial respiratory chain. Prevents mitochondrial hyperpolarization state and restricts mitochondrial generation of ATP (By similarity). Acts as an import component of the TIM23 translocase complex. Stimulates the ATPase activity of HSPA9., [UniProtKB, PubMed]; Silencing hepatic MCJ attenuates non-alcoholic fatty liver disease (NAFLD) by increasing mitochondrial fatty acid oxidation. Publication Status: Online-Only, [RefSeq, PubMed]; The mitochondrial negative regulator MCJ modulates the interplay between microbiota and the host during ulcerative colitis. 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": 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": 6, "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": "B2R4L0;Q5T219;Q6X963", "ec_number_list": [], "go_molecular_function": "GO:0001671 ATPase activator activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0001405 PAM complex, Tim23 associated import motor", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0030150 protein import into mitochondrial matrix", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9Y5T4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MWE9-1", "uniprot_id": [ { "id": "EFCB8_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MWE9", "type": "external" } ], "mass": 16428.0, "length": 144, "protein_name": "EF-hand calcium-binding domain-containing protein 8", "gene_name": "EFCAB8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "EFCAB8", "gene_names_refseq": "", "protein_names_uniprotkb": "EF-hand calcium-binding domain-containing protein 8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:388795)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MWE9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2CJ06-1", "uniprot_id": [ { "id": "DYTN_HUMAN", "url": "https://www.uniprot.org/uniprot/A2CJ06", "type": "external" } ], "mass": 65320.0, "length": 578, "protein_name": "Dystrotelin", "gene_name": "DYTN", "organism": "Human", "refseq_name": "dystrotelin", "refseq_ac": [ { "id": "NP_001087199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087199", "type": "external" } ], "gene_names_uniprotkb": "DYTN", "gene_names_refseq": "DYTN", "protein_names_uniprotkb": "Dystrotelin", "protein_names_refseq": "dystrotelin", "tax_id": 9606, "disease": "", "pathway": " (hsa:391475)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;17233888;32161166;35051231;35580925", "class_list": "", "function": "VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DQ516347.1. This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0099536 synaptic signaling", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A2CJ06-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8K855-1", "uniprot_id": [ { "id": "EFCB7_HUMAN", "url": "https://www.uniprot.org/uniprot/A8K855", "type": "external" } ], "mass": 71981.0, "length": 629, "protein_name": "EF-hand calcium-binding domain-containing protein 7", "gene_name": "EFCAB7", "organism": "Human", "refseq_name": "EF-hand calcium-binding domain-containing protein 7", "refseq_ac": [ { "id": "NP_115813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115813", "type": "external" } ], "gene_names_uniprotkb": "EFCAB7; KIAA1799", "gene_names_refseq": "EFCAB7", "protein_names_uniprotkb": "EF-hand calcium-binding domain-containing protein 7", "protein_names_refseq": "EF-hand calcium-binding domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:84455); (R-HSA-5635838)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;10966113;14614827;14636583;15618519;15691767;16136078;16630821;16908539;17641202;17960137;18497258;18815277;19196978;19218434;19365551;19948480;20844016;21356043;21659505;21695114;21993680;22277298;22981989;22986504;23026747;23186163;23481700;23719536;23877428;24582806;24714562;24845016;24925320;25576301;25645385;26748586;26992070;27600516;28063628;28228285;29242379;29393594;29493099;29557506;29632046;29845660;30315122;30410026;30524438;31154438;31844290;31848261;32157095;32265295;32357974;32488085;32897882;32938616;33592498;33968037;33981976;34171305;34932366;35051231;35561310;35580925;36010968;36241641", "class_list": "", "function": "Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for the localization of the EVC2:EVC subcomplex at the base of primary cilia., [UniProtKB, UniProtKB]; Novel mutation in EFCAB7 alters expression and interaction with EVC2 protein., [RefSeq, PubMed]; We detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related 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": 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": 21, "reported_interactions": 0, "missing_score": 9652, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q658P0;Q96B95;Q96JM6", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005929 cilium;GO:0009898 cytoplasmic side of plasma membrane;GO:0060170 ciliary membrane;GO:0098797 plasma membrane protein complex", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0008589 regulation of smoothened signaling pathway;GO:1903569 positive regulation of protein localization to ciliary membrane;GO:0120229 protein localization to motile cilium", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "A8K855-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15075-1", "uniprot_id": [ { "id": "EEA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15075", "type": "external" } ], "mass": 162466.0, "length": 1411, "protein_name": "Early endosome antigen 1", "gene_name": "EEA1", "organism": "Human", "refseq_name": "early endosome antigen 1", "refseq_ac": [ { "id": "NP_003557", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003557", "type": "external" } ], "gene_names_uniprotkb": "EEA1; ZFYVE2", "gene_names_refseq": "EEA1; MST105; MSTP105; ZFYVE2", "protein_names_uniprotkb": "Early endosome antigen 1; Endosome-associated protein p162; Zinc finger FYVE domain-containing protein 2", "protein_names_refseq": "early endosome antigen 1, 162kD; early endosome antigen 1; early endosome-associated protein; endosome-associated protein p162; zinc finger FYVE domain-containing protein 2", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); inflammatory bowel disease (Disease Ontology:DOID:0050589); obstructive sleep apnea (Disease Ontology:DOID:0050848); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); respiratory allergy (Disease Ontology:DOID:0060496); mucositis (Disease Ontology:DOID:0080178); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); asthma, nasal polyps, and aspirin intolerance (Disease Ontology:DOID:0111579); sleeping sickness (Disease Ontology:DOID:10112); pleurisy (Disease Ontology:DOID:10247); asbestosis (Disease Ontology:DOID:10320); Alzheimer's disease (Disease Ontology:DOID:10652); renal hypertension (Disease Ontology:DOID:1073); otitis media (Disease Ontology:DOID:10754); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); gastroschisis (Disease Ontology:DOID:11044); meconium aspiration syndrome (Disease Ontology:DOID:11049); pneumocystosis (Disease Ontology:DOID:11339); pulmonary edema (Disease Ontology:DOID:11396); diabetic angiopathy (Disease Ontology:DOID:11713); allergic disease (Disease Ontology:DOID:1205); Lewy body dementia (Disease Ontology:DOID:12217); primary biliary cholangitis (Disease Ontology:DOID:12236); malaria (Disease Ontology:DOID:12365); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); dilated cardiomyopathy (Disease Ontology:DOID:12930); retinopathy of prematurity (Disease Ontology:DOID:13025); dementia (Disease Ontology:DOID:1307); lung cancer (Disease Ontology:DOID:1324); pulmonary sarcoidosis (Disease Ontology:DOID:13406); hepatic encephalopathy (Disease Ontology:DOID:13413); interstitial cystitis (Disease Ontology:DOID:13949); anterior uveitis (Disease Ontology:DOID:1407); toxic shock syndrome (Disease Ontology:DOID:14115); hypothyroidism (Disease Ontology:DOID:1459); cystic fibrosis (Disease Ontology:DOID:1485); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); impotence (Disease Ontology:DOID:1875); hepatitis (Disease Ontology:DOID:2237); colon adenocarcinoma (Disease Ontology:DOID:234); bronchiolitis obliterans (Disease Ontology:DOID:2799); 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); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); allergic rhinitis (Disease Ontology:DOID:4481); rhinitis (Disease Ontology:DOID:4483); uremia (Disease Ontology:DOID:4676); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); cholangiocarcinoma (Disease Ontology:DOID:4947); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); paraplegia (Disease Ontology:DOID:607); pulmonary hypertension (Disease Ontology:DOID:6432); hepatocellular carcinoma (Disease Ontology:DOID:684); abdominal aortic aneurysm (Disease Ontology:DOID:7693); extrinsic allergic alveolitis (Disease Ontology:DOID:841); lung disease (Disease Ontology:DOID:850); alcoholic gastritis (Disease Ontology:DOID:8680); nasopharynx carcinoma (Disease Ontology:DOID:9261); type 2 diabetes mellitus (Disease Ontology:DOID:9352); allergic asthma (Disease Ontology:DOID:9415); pulmonary emphysema (Disease Ontology:DOID:9675); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:8411); (R-HSA-168138)", "pathway_count": 2, "publication_count": 100, "publication_id_list": "10.1101/2023.09.13.557529;10394369;10491193;10506127;10807926;11230696;11237011;11741531;11870209;12493736;14751759;15207506;16086013;16138080;16314522;17878374;18077418;18820679;19296456;19725050;20068231;21604257;21872626;22816767;23186163;23481700;24029230;24342772;24366607;24714562;24855048;25576301;25645385;25880248;26154972;26375851;26728094;26768311;26992070;27600516;27846572;27862975;27893789;27920218;28228285;28649982;28832583;28834231;28855257;28904123;29242379;29317506;29393594;29437530;29493099;29508533;29547649;29557506;29786170;29789417;30188634;30315122;30379171;30429286;30620550;31154438;31530632;31844290;31848261;32157095;32350084;32357161;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33968037;34019948;34171305;34185709;34357683;34509645;35051231;35494241;35580925;36010968;36284347;37217939;38665916;7768953;9697774", "class_list": "", "function": "Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking., [UniProtKB]; Here, using EGF/EGFR endocytosis as a model and confocal microscopy of fixed and live cells, we provide evidence favoring EEA1-vesicles being pre-existed vesicular compartment, that maintains its resident proteins' level and is sensitive to biosynthetic, but not endocytic pathway disturbance. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of allergic bronchopulmonary aspergillosis -associated variants in EEA that have functional effects on macrophage phagocytosis and phagolysosome acidification of A. fumigatus conidia. Publication Status: Online-Only, [RefSeq, PubMed]; Rab5C and EEA1 in the early endosomal pathway, and Rab7A and lysobisphosphatidic acid in the late endosomal pathway, are important for trafficking of phosphorothioate Antisense oligonucleotides and facilitate their escape from endolysosomal compartments after Stabilin-mediated internalization., [RefSeq, PubMed]; This also suggests that this pathway is involved in EEA1-vesicles biogenesis., [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": 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": 9, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 70, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q14221", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0005545 1-phosphatidylinositol binding;GO:0030742 GTP-dependent protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005769 early endosome;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0031901 early endosome membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0045022 early endosome to late endosome transport;GO:0099565 chemical synaptic transmission, postsynaptic;GO:0016189 synaptic vesicle to endosome fusion;GO:0006906 vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "Q15075-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05305-1", "uniprot_id": [ { "id": "EDN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P05305", "type": "external" } ], "mass": 24425.0, "length": 212, "protein_name": "Endothelin-1", "gene_name": "EDN1", "organism": "Human", "refseq_name": "endothelin-1 isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001161791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161791", "type": "external" } ], "gene_names_uniprotkb": "EDN1", "gene_names_refseq": "ARCND3; EDN1; ET1; HDLCQ7; PPET1; QME", "protein_names_uniprotkb": "Endothelin-1; PPET1; Preproendothelin-1", "protein_names_refseq": "endothelin-1 isoform 2 preproprotein; preproendothelin-1", "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); question mark ears, isolated (MONDO:MONDO:0013013); auriculocondylar syndrome 3 (MONDO:MONDO:0014312)", "pathway": " (hsa:1906); (R-HSA-375276); (R-HSA-416476); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 199, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10079109;10100623;10191087;10231710;10334806;10381885;10391210;10421367;10421368;10438732;10461880;10498338;10499587;10567402;10567430;10604470;10611221;10655586;10673502;10727532;10854085;10861009;10899166;11015615;11027551;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;11840323;11891324;11912130;11930005;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;1422154;14463577;14550283;14573733;14975237;15118077;15139756;1515112;15226305;15507434;15539556;1567413;15947423;15951850;16014379;16034366;16182515;16268778;16339447;1655761;16754659;16822840;16923326;1698554;1710450;1710578;1719979;1722333;17357073;1736987;17446437;1748288;17623675;18127230;18288492;18434541;1847994;18515384;18577758;1859417;1864385;18644867;18936096;1905813;19086031;19524539;19608861;20460180;21486943;21965087;22647378;23159739;23190890;23207919;23446738;23584533;23690594;24268655;24906252;25248477;25595898;25813380;2649896;26537720;2659594;2670930;27128622;27496565;28394346;2841328;29242379;29295999;30804224;3086311;3202875;32350084;32636443;3282927;3366244;33744299;34140478;35154160;3525564;37770430;3856870;38824487;38860875;38874661;38884602;39106080;5338216;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7664037;7773179;7797512;7905839;7937899;7958932;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8336698;8373420;8381365;8383682;8395824;8440682;8450044;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9199364;9284755;9305846;9353119;9440696;9521323;9530155;9560246;9593744;9607765;9676189;9685625;9722565;9760192;9770463;9792798;9832121;9851594;9973413", "class_list": "", "function": "Diagnostic potential of endothelin-1 in peri-implant diseases: a cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; ET1 acts as a potential plasma biomarker and therapeutic target in deep venous thrombosis rat model., [RefSeq, PubMed]; Endothelin-1 (ET-1) contributes to senescence and phenotypic changes in brain pericytes in diabetes-mimicking conditions., [RefSeq, PubMed]; Endothelins are endothelium-derived vasoconstrictor peptides (By similarity). Probable ligand for G protein-coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (PubMed:19086031). Also binds the DEAR/FBXW7-AS1 receptor (PubMed:17446437). Promotes mesenteric arterial wall remodeling via activation of ROCK signaling and subsequent colocalization of NFATC3 with F-actin filaments (By similarity). NFATC3 then translocates to the nucleus where it subsequently promotes the transcription of the smooth muscle hypertrophy and differentiation marker ACTA2 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Microarray analysis demonstrates up-regulation of the endothelin-1 gene with compensatory down-regulation of the ETA receptor gene in human portal vein., [RefSeq, PubMed]; The endothelin-1-driven tumor-stroma feed-forward loops in high-grade serous ovarian cancer., [RefSeq, PubMed]; This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 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": 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": "diagnostic", "glycan_count": 1, "disease_count": 63, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96DA1", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0005179 hormone activity;GO:0031707 endothelin A receptor binding;GO:0031708 endothelin B receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0045178 basal part of cell;GO:0030133 transport vesicle", "go_biological_process": "GO:0030878 thyroid gland development;GO:0086100 endothelin receptor signaling pathway;GO:0042045 epithelial fluid transport;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 20.3, "record_id": "P05305-1", "record_type": "protein", "filter_code": "1000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CF75-1", "uniprot_id": [ { "id": "EBLN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CF75", "type": "external" } ], "mass": 40313.0, "length": 366, "protein_name": "Endogenous Bornavirus-like nucleoprotein 1", "gene_name": "EBLN1", "organism": "Human", "refseq_name": "endogenous Bornavirus-like nucleoprotein 1", "refseq_ac": [ { "id": "NP_001186867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186867", "type": "external" } ], "gene_names_uniprotkb": "EBLN1", "gene_names_refseq": "EBLN-1; EBLN1", "protein_names_uniprotkb": "Endogenous Bornavirus-like nucleoprotein 1; EBLN-1; Endogenous Borna-like N element-1", "protein_names_refseq": "endogenous Borna-like N element-1; endogenous Borna-like N element-containing protein 1; endogenous Bornavirus-like nucleoprotein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:340900)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "20054395;26480920;27023521;27739501;28228285;29557506;31717259;31844290;34211107", "class_list": "", "function": "Human EBLN1 possesses important cellular functions within human cells. Publication Status: Online-Only, [RefSeq, PubMed]; May act as an RNA-binding protein. Highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes (By similarity)., [UniProtKB]; Numerous genes were dysregulated by Endogenous bornavirus-like nucleoprotein 1 silencing, some of which may be key target genes of Rho family GTPase 3, oncostatin M receptor, and cAMP responsive element binding protein 3-like 2 protein. Publication Status: Online-Only, [RefSeq, PubMed]; Our results provide evidence for new loci influencing abdominal visceral (BBS9, ADCY8, KCNK9) and subcutaneous (MLLT10/DNAJC1/EBLN1) fat, and confirmed a locus (THNSL2) previously reported to be associated with abdominal fat in women., [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": "S4R316", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "P0CF75-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15502-3", "uniprot_id": [ { "id": "ELN_HUMAN", "url": "https://www.uniprot.org/uniprot/P15502", "type": "external" } ], "mass": 68398.0, "length": 786, "protein_name": "Elastin", "gene_name": "ELN", "organism": "Human", "refseq_name": "elastin isoform m precursor", "refseq_ac": [ { "id": "NP_001265868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265868", "type": "external" } ], "gene_names_uniprotkb": "ELN", "gene_names_refseq": "ADCL1; ELN; SVAS; WBS; WS", "protein_names_uniprotkb": "Elastin; Tropoelastin", "protein_names_refseq": "elastin isoform m precursor; tropoelastin", "tax_id": 9606, "disease": "pterygium (Disease Ontology:DOID:0002116); autosomal dominant cutis laxa 1 (Disease Ontology:DOID:0070130); polymyositis (Disease Ontology:DOID:0080745); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861); Buschke-Ollendorff syndrome (Disease Ontology:DOID:0111536); pigmentation disease (Disease Ontology:DOID:10123); silicosis (Disease Ontology:DOID:10325); primary open angle glaucoma (Disease Ontology:DOID:1070); essential hypertension (Disease Ontology:DOID:10825); Kuhnt-Junius degeneration (Disease Ontology:DOID:10873); thromboangiitis obliterans (Disease Ontology:DOID:12918); temporal arteritis (Disease Ontology:DOID:13375); exfoliation syndrome (Disease Ontology:DOID:13641); bladder neck obstruction (Disease Ontology:DOID:13948); aortic valve stenosis (Disease Ontology:DOID:1712); melanoma (Disease Ontology:DOID:1909); Williams-Beuren syndrome (Disease Ontology:DOID:1928); supravalvular aortic stenosis (Disease Ontology:DOID:1929); pseudoxanthoma elasticum (Disease Ontology:DOID:2738); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); cutis laxa (Disease Ontology:DOID:3144); photosensitivity disease (Disease Ontology:DOID:3159); aortic aneurysm (Disease Ontology:DOID:3627); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); systemic scleroderma (Disease Ontology:DOID:418); macular degeneration (Disease Ontology:DOID:4448); liver cirrhosis (Disease Ontology:DOID:5082); aortic valve disease (Disease Ontology:DOID:62); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); dermatitis herpetiformis (Disease Ontology:DOID:8505); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); systemic lupus erythematosus (Disease Ontology:DOID:9074); polyarteritis nodosa (Disease Ontology:DOID:9810)", "pathway": " (hsa:2006); (R-HSA-1474228); (R-HSA-1566948); (R-HSA-2129379)", "pathway_count": 4, "publication_count": 114, "publication_id_list": "10025398;10198291;10229672;10386589;10424889;10544250;10646116;10706100;10809722;10930463;10936461;10942104;10986281;11375993;11481325;11872628;11970960;12358597;12415008;12429738;12727852;12843408;1400330;14701737;14973287;15234972;15591058;15748998;15790312;15958533;16078697;16133547;16161116;16478991;1649600;16631740;16825321;16906757;1698775;17035250;1707285;1708799;17255108;17324935;17332331;17354228;17608959;18339631;18434311;18658137;19010778;19194475;19570982;19571574;19657146;19714641;20142769;21030783;21297635;21441952;21646718;21670566;21784848;21864727;22159414;23035980;23481700;23845380;25645385;2722804;27862975;2831431;29242379;29557506;29786170;29789417;3039501;30459171;31154438;3171221;31848261;32157095;32161166;32350084;32366484;32387766;32502341;35051231;35251023;35580925;36010968;36215666;36284347;37938771;39120048;6123066;7075587;7500359;7534784;7547873;8226919;8617364;8626565;8689688;8812460;9065415;9115292;9148753;9215670;9430493;9461298;9725916;9852107;9873040", "class_list": "", "function": "Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle (By similarity)., [UniProtKB, UniProtKB]; The Matrix Protein Tropoelastin Prolongs Mesenchymal Stromal Cell Vitality and Delays Senescence During Replicative Aging., [RefSeq, PubMed]; This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 35, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KTS6;O15336;O15337;Q14233;Q14234;Q14235;Q14238;Q6P0L4;Q6ZWJ6;Q75MU5;Q7Z316;Q7Z3F5;Q9UMF5", "ec_number_list": [], "go_molecular_function": "GO:0050840 extracellular matrix binding;GO:0005201 extracellular matrix structural constituent;GO:0030023 extracellular matrix constituent conferring elasticity", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0071953 elastic fiber", "go_biological_process": "GO:0085029 extracellular matrix assembly;GO:0007585 respiratory gaseous exchange by respiratory system;GO:0008015 blood circulation;GO:0009887 animal organ morphogenesis;GO:0048660 regulation of smooth muscle cell proliferation", "synthesized_glycan_count": 0, "hit_score": 11.8, "record_id": "P15502-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20827-1", "uniprot_id": [ { "id": "EFNA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P20827", "type": "external" } ], "mass": 23787.0, "length": 205, "protein_name": "Ephrin-A1", "gene_name": "EFNA1", "organism": "Human", "refseq_name": "ephrin-A1 isoform a precursor", "refseq_ac": [ { "id": "NP_004419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004419", "type": "external" } ], "gene_names_uniprotkb": "EFNA1; EPLG1; LERK1; TNFAIP4", "gene_names_refseq": "B61; ECKLG; EFNA1; EPLG1; GMAN; LERK-1; LERK1; TNFAIP4", "protein_names_uniprotkb": "Ephrin-A1; EPH-related receptor tyrosine kinase ligand 1; Immediate early response protein B61; LERK-1; TNF alpha-induced protein 4; Tumor necrosis factor alpha-induced protein 4", "protein_names_refseq": "TNF alpha-induced protein 4; eph-related receptor tyrosine kinase ligand 1; ephrin-A1 isoform a precursor; epididymis secretory sperm binding protein; gastric cancer metastasis associated long noncoding RNA; immediate early response protein B61; ligand of eph-related kinase 1; tumor necrosis factor, alpha-induced protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:1942); (R-HSA-2682334); (R-HSA-3928663); (R-HSA-3928665)", "pathway_count": 4, "publication_count": 60, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10769020;10848605;11179879;11448999;11780069;12084815;12495863;12794130;12973357;15340161;15351694;15848799;15848800;16511561;17322526;17332925;17428795;17928214;18713744;18794797;19525919;20496116;20505120;2233719;23090970;23584533;23661698;24190977;25576301;25645385;25813380;29237092;29242379;29393594;29557506;29741879;30429286;30779550;30833945;31848261;32125861;32157095;32350084;32938616;33180239;33981976;34087483;34087884;34171305;35051231;35072898;35251023;35318648;36308379;37105137;7838529;9499402", "class_list": "", "function": "An integrated analysis of single-cell and bulk transcriptomics reveals EFNA1 as a novel prognostic biomarker for cervical cancer., [RefSeq, PubMed]; Association of Epidermal Growth Factor 61A>G, Survivin -31G>C, and EFNA1 -1732G>A Polymorphisms with Susceptibility to Colorectal Cancer., [RefSeq, PubMed]; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells (PubMed:17332925, PubMed:18794797). Involved in angiogenesis, regulating vascular endothelial cell differentiation and migration through activation of EPHA2. Acts as a ligand for EPHA3, inhibiting epithelial-to-mesenchymal transition of cardiac cells and playing a role in heart development (PubMed:12794130). May also contribute to dendritic spine morphogenesis (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; EFNA1 is a potential key gene that correlates with immune infiltration in low-grade glioma., [RefSeq, PubMed]; Increased Serum EphrinA1 Is Associated with Parenchymal Hematoma after Ischemic Stroke., [RefSeq, PubMed]; Role of EFNA1 SNP (rs12904) in Tumorigenesis and Metastasis of Colorectal Cancer: A Bioinformatic Analysis and HRM SNP Genotyping Verification. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [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": 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": 5, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DV86;Q5SR60;Q5SR61;Q6I9T9;Q8N578", "ec_number_list": [], "go_molecular_function": "GO:0046875 ephrin receptor binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0098552 side of membrane", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001525 angiogenesis;GO:0043535 regulation of blood vessel endothelial cell migration;GO:0048013 ephrin receptor signaling pathway;GO:1902004 positive regulation of amyloid-beta formation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P20827-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21128-1", "uniprot_id": [ { "id": "ENDOU_HUMAN", "url": "https://www.uniprot.org/uniprot/P21128", "type": "external" } ], "mass": 46872.0, "length": 410, "protein_name": "Uridylate-specific endoribonuclease", "gene_name": "ENDOU", "organism": "Human", "refseq_name": "uridylate-specific endoribonuclease isoform 1 precursor", "refseq_ac": [ { "id": "NP_001165910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165910", "type": "external" } ], "gene_names_uniprotkb": "ENDOU", "gene_names_refseq": "ENDOU; P11; PP11; PRSS26", "protein_names_uniprotkb": "Uridylate-specific endoribonuclease; 3.1.-.-; 4.6.1.-; PP11; Placental protein 11; Protein endoU", "protein_names_refseq": "22 serine protease; 26 serine protease; endonuclease, polyU-specific; placental protein 11; poly(U)-specific endoribonuclease; protein endoU; uridylate-specific endoribonuclease isoform 1 precursor; uridylate-specific endoribonuclease", "tax_id": 9606, "disease": "", "pathway": " (hsa:8909)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "1710108;18936097;2350438;31154438;33197855;33511665;37803019;39249657;39894887", "class_list": "", "function": "Connecting the dots on vertical transmission of SARS-CoV-2 using protein-protein interaction network analysis - Potential roles of placental ACE2 and ENDOU., [RefSeq, PubMed]; Endoribonuclease that cleaves single-stranded RNAs at 5' of uridylates and releases a product with a 2',3'-cyclic phosphate at the 3'-end. The UU and GU sites are more efficiently cleaved than CU and AU sites (PubMed:18936097). Targets mRNAs to regulate their expression (PubMed:37803019)., [UniProtKB, PubMed, PubMed]; Human placental protein 11 is an endoribonuclease, [RefSeq, PubMed]; Poly(U)-specific endoribonuclease ENDOU promotes translation of human CHOP mRNA by releasing uORF element-mediated inhibition., [RefSeq, PubMed]; This gene encodes a protein with endoribonuclease activity that binds polyuridine-enriched single-stranded RNA. This gene was initially characterized based on its high expression in placenta but was mischaracterized as a serine protease. In mouse, this gene promotes tolerance to self-antigens by regulating B cell activation-induced cell death (AICD). The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2020]., [RefSeq]; [1]H, [13]C and [15]N backbone resonance assignment of the calcium-activated EndoU endoribonuclease., [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": 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": "B2RBJ3;B3KQS7;B7Z6E1;Q2NKJ4", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "4.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.-", "type": "external" } ], "go_molecular_function": "GO:0030247 polysaccharide binding;GO:0003723 RNA binding;GO:0005044 scavenger receptor activity;GO:0030145 manganese ion binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0006955 immune response;GO:0050995 negative regulation of lipid catabolic process;GO:0007565 female pregnancy;GO:0016441 post-transcriptional gene silencing", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P21128-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P26641-1", "uniprot_id": [ { "id": "EF1G_HUMAN", "url": "https://www.uniprot.org/uniprot/P26641", "type": "external" } ], "mass": 50119.0, "length": 437, "protein_name": "Elongation factor 1-gamma", "gene_name": "EEF1G", "organism": "Human", "refseq_name": "elongation factor 1-gamma", "refseq_ac": [ { "id": "NP_001395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001395", "type": "external" } ], "gene_names_uniprotkb": "EEF1G; EF1G; PRO1608", "gene_names_refseq": "EEF1G; EF1G; GIG35", "protein_names_uniprotkb": "Elongation factor 1-gamma; EF-1-gamma; eEF-1B gamma", "protein_names_refseq": "EF-1-gamma; PRO1608; eEF-1B gamma; elongation factor 1-gamma; pancreatic tumor-related protein; translation elongation factor eEF-1 gamma chain", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); developmental and epileptic encephalopathy 58 (Disease Ontology:DOID:0080285); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease (Disease Ontology:DOID:10652); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); morbid obesity (Disease Ontology:DOID:11981); trigeminal neuralgia (Disease Ontology:DOID:12098); autistic disorder (Disease Ontology:DOID:12849); major depressive disorder (Disease Ontology:DOID:1470); cognitive disorder (Disease Ontology:DOID:1561); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); glaucoma (Disease Ontology:DOID:1686); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); morphine dependence (Disease Ontology:DOID:2560); bipolar disorder (Disease Ontology:DOID:3312); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); borna disease (Disease Ontology:DOID:5154); intestinal disease (Disease Ontology:DOID:5295); schizophrenia (Disease Ontology:DOID:5419); congestive heart failure (Disease Ontology:DOID:6000); amphetamine abuse (Disease Ontology:DOID:670); vascular dementia (Disease Ontology:DOID:8725); cannabis abuse (Disease Ontology:DOID:9505); diabetic neuropathy (Disease Ontology:DOID:9743); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:1937); (R-HSA-156842); (R-HSA-9725370)", "pathway_count": 3, "publication_count": 229, "publication_id_list": "10.1101/2023.09.13.557529;10216106;10368288;10556217;10702393;10706082;10706887;10934142;11110708;11280786;11310834;11504915;11751994;11850821;11943732;11988758;12112524;12185581;12424201;12665801;12750159;12766415;12800156;12920229;12934099;1372736;1461723;14654843;14962911;15169778;15208656;15374880;15565337;15588951;15895073;1598220;16112985;16153455;16161041;16170336;16408927;16548883;16825495;16871283;16939498;17081983;17086210;17353907;17416736;17483340;17625570;18097461;18452557;18593892;18594010;18669648;18701132;18724359;18802091;18923523;18923524;18923525;19456272;19459784;19608861;19651622;20058876;20068231;20454865;20964681;21134980;21164297;21213368;21415216;21494621;21596819;21656749;21838707;21847362;21908771;22223895;22249260;22327622;22347464;22570254;22645359;22658521;22869377;23104988;23139213;23201355;23239810;23481700;23661334;23957430;24060861;24445538;24475247;24496003;24518094;24613930;24715725;24736082;25114211;25342631;25393796;25418920;25421750;25576301;25645385;25810538;25813404;25892735;25921060;26001147;26062823;26154972;26301689;26375851;26728094;26758079;26768311;26811146;26853435;26929215;26992070;27245569;27397612;27573755;27600516;27846572;27862975;27874193;27920218;28218747;28228285;28404650;28510447;28514659;28659337;28741662;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29455642;29493099;29508533;29557506;29632711;29786170;29873274;30131584;30192525;30315122;30410026;30429286;30484775;30524438;30692217;30779550;30833945;31154438;31217245;31366041;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34357683;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38665916;39990658;40914422;40930100;7824924;8633037;9819383", "class_list": "", "function": "Probably plays a role in anchoring the complex to other cellular components., [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 contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [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": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 37, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DTG2;Q6PJ62;Q6PK31;Q96CU2;Q9P196", "ec_number_list": [], "go_molecular_function": "GO:0045296 cadherin binding;GO:0003746 translation elongation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009615 response to virus;GO:0006414 translational elongation", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "P26641-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30084-1", "uniprot_id": [ { "id": "ECHM_HUMAN", "url": "https://www.uniprot.org/uniprot/P30084", "type": "external" } ], "mass": 31387.0, "length": 290, "protein_name": "Enoyl-CoA hydratase, mitochondrial", "gene_name": "ECHS1", "organism": "Human", "refseq_name": "enoyl-CoA hydratase, mitochondrial", "refseq_ac": [ { "id": "NP_004083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004083", "type": "external" } ], "gene_names_uniprotkb": "ECHS1", "gene_names_refseq": "ECHS1D; ECHS1; SCEH; mECH1; mECH", "protein_names_uniprotkb": "Enoyl-CoA hydratase, mitochondrial; 4.2.1.17; 5.3.3.8; ECHS1; Enoyl-CoA hydratase 1; SCEH; Short-chain enoyl-CoA hydratase; mECH1; mECH", "protein_names_refseq": "enoyl Coenzyme A hydratase, short chain, 1, mitochondrial; enoyl-CoA hydratase, mitochondrial; enoyl-CoA hydratase, short chain, 1, mitochondrial; epididymis secretory sperm binding protein; short chain enoyl-CoA hydratase", "tax_id": 9606, "disease": "mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (Disease Ontology:DOID:0070540); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:1892); (R-HSA-70895); (R-HSA-77310); (R-HSA-77346); (R-HSA-77348); (R-HSA-77350); (R-HSA-77352); (R-HSA-9916720)", "pathway_count": 8, "publication_count": 117, "publication_id_list": "10231530;10832746;10947204;11013134;11181649;11264579;11271497;11406611;11470804;11738050;11772874;12269802;12359132;12434311;12654921;12696021;1286669;13295225;13295248;13416257;14752098;15166214;1527093;15342248;1540149;1550553;15576032;16023992;16141215;17278971;17371050;18192838;18479707;19608861;20068231;22291014;22956686;23481700;23485643;24275569;24449431;24715725;25125611;25393721;25576301;25892735;26000322;26099313;26154972;26251176;26375851;26741492;26992070;27221955;28228285;28832583;28904123;29242379;29493099;29557506;29575569;29632711;29769354;30315122;30410026;30429286;30524438;3082934;30833945;31154438;31222486;31435015;31844290;31848261;31937595;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33392160;33465208;33592498;33936100;33968037;34087483;34171305;34211107;34229054;34357683;34561969;34725712;35051231;35251023;35580925;3597357;36010968;36215666;36241641;36284347;37938771;38363494;38665916;40596516;40914422;6928646;7356336;7907320;8012501;8687463;8824301;9073515;9165094;9214289;9889013", "class_list": "", "function": "Converts unsaturated trans-2-enoyl-CoA species ((2E)-enoyl-CoA) to the corresponding (3S)-3hydroxyacyl-CoA species through addition of a water molecule to the double bond (PubMed:25125611, PubMed:26251176). Catalyzes the hydration of medium- and short-chained fatty enoyl-CoA thioesters from 4 carbons long (C4) up to C16 (PubMed:26251176). Has high substrate specificity for crotonyl-CoA ((2E)-butenoyl-CoA) and moderate specificity for acryloyl-CoA, 3-methylcrotonyl-CoA (3-methyl-(2E)-butenoyl-CoA) and methacrylyl-CoA ((2E)-2-methylpropenoyl-CoA) (PubMed:26251176). Can bind tiglyl-CoA (2-methylcrotonoyl-CoA), but hydrates only a small amount of this substrate (PubMed:26251176). Plays a key role in the beta-oxidation spiral of short- and medium-chain fatty acid oxidation (PubMed:25125611, PubMed:26251176). At a lower rate than the hydratase reaction, catalyzes the isomerase reaction of trans-3-enoyl-CoA species (such as (3E)-hexenoyl-CoA) to trans-2-enoyl-CoA species (such as (2E)-hexenoyl-CoA), which are subsequently hydrated to 3(S)-3-hydroxyacyl-CoA species (such as (3S)-hydroxyhexanoyl-CoA) (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity., [RefSeq, PubMed]; The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [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": 0, "reported_glycation": 0, "reported_snv": 9, "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": "O00739;Q5VWY1;Q96H54", "ec_number_list": [ { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "4.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.17", "type": "external" }, { "id": "1.1.1.211", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.211", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "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" }, { "id": "4.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.-", "type": "external" } ], "go_molecular_function": "GO:0004300 enoyl-CoA hydratase activity;GO:0004165 delta(3)-delta(2)-enoyl-CoA isomerase activity;GO:0120092 (2E)-butenoyl-CoA hydratase activity;GO:0043956 3-hydroxypropionyl-CoA dehydratase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0009083 branched-chain amino acid catabolic process;GO:0006574 L-valine catabolic process", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "P30084-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P42126-1", "uniprot_id": [ { "id": "ECI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P42126", "type": "external" } ], "mass": 32816.0, "length": 302, "protein_name": "Enoyl-CoA delta isomerase 1, mitochondrial", "gene_name": "ECI1", "organism": "Human", "refseq_name": "enoyl-CoA delta isomerase 1, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001171500", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171500", "type": "external" } ], "gene_names_uniprotkb": "ECI1; DCI", "gene_names_refseq": "DCI; ECI1", "protein_names_uniprotkb": "Enoyl-CoA delta isomerase 1, mitochondrial; 3,2-trans-enoyl-CoA isomerase; 5.3.3.8; D3,D2-enoyl-CoA isomerase; Delta(3),Delta(2)-enoyl-CoA isomerase; Dodecenoyl-CoA isomerase", "protein_names_refseq": "3,2-trans-enoyl-CoA isomerase, mitochondrial; D3,D2-enoyl-CoA isomerase; acetylene-allene isomerase; delta(3),Delta(2)-enoyl-CoA isomerase; dodecenoyl-CoA delta isomerase (3,2 trans-enoyl-CoA isomerase); dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase); enoyl-CoA delta isomerase 1, mitochondrial isoform 2 precursor; enoyl-CoA delta isomerase 1, mitochondrial; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); hyperglycemia (Disease Ontology:DOID:4195); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:1632); (R-HSA-77288); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "11237011;11923310;12198491;14623864;15351645;15522782;15870080;16115876;17101804;17297443;17579211;19608861;19841671;21917952;22262461;22710082;23201127;23481700;23555621;23931759;24315374;24520911;25576301;26154972;26474213;26504172;26923599;26992070;27496948;27642048;27846572;28218747;28228285;28377575;28396416;28514659;28832583;28904123;29242379;29301859;29393594;29437277;29557506;29632046;29632711;29932645;30120231;30315122;30410026;30484775;31327635;31695197;31844290;31848261;32157095;32265295;32502341;32870666;32938616;33141586;33257573;33912179;34171305;34211107;34357683;34509645;34704252;34943861;35051231;35411033;35870450;36215666;36241641;36629048;40914422;7623837;7818490;7829074;8198519", "class_list": "", "function": "Auxiliary enzyme in the beta-oxidation of mono- and polyunsaturated fatty acids (PubMed:26474213, PubMed:7818490). Together with the 2,4-dienoyl-CoA reductase (DECR) and the Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase (ECH1), they allow the reentrance of the enoyl-CoA into the beta-oxidation cycle (PubMed:26474213). Able to isomerize both 3-cis (3Z) and 3-trans (3E) double bonds into the 2-trans (2E) form in a range of fatty enoyl-CoA species, with a preference for (3Z)-enoyl-CoAs over (3E)-enoyl-CoAs (PubMed:26474213, PubMed:7818490). The catalytic efficiency of this enzyme is not affected by the fatty acyl chain length, and based on its established catalytic mechanism, it is predicted to act also on other fatty acids besides those tested experimentally (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; Determination of structure and mode of binding for fatty acyl group, [RefSeq, PubMed]; Fatty acid oxidation enzyme Delta3, Delta2-enoyl-CoA isomerase 1 (ECI1) drives aggressive tumor phenotype and predicts poor clinical outcome in prostate cancer patients., [RefSeq, PubMed]; Hepatitis C virus growth and RNA replication in hepatoma cell lines stably expressing coenzyme A delta isomerase (DCI)-targeting short hairpin RNA (shRNA) were abrogated, indicating that DCI is required for productive infection., [RefSeq, PubMed]; Key enzyme of fatty acid beta-oxidation. Able to isomerize both 3-cis (3Z) and 3-trans (3E) double bonds into the 2-trans (2E) form in a range of enoyl-CoA species, with a preference for (3Z)-enoyl-CoAs over (3E)-enoyl-CoAs. The catalytic efficiency of this enzyme is not affected by the fatty acyl chain length., [UniProtKB, UniProtKB]; This gene encodes a member of the hydratase/isomerase superfamily. The protein encoded is a key mitochondrial enzyme involved in beta-oxidation of unsaturated fatty acids. It catalyzes the transformation of 3-cis and 3-trans-enoyl-CoA esters arising during the stepwise degradation of cis-, mono-, and polyunsaturated fatty acids to the 2-trans-enoyl-CoA intermediates. Alternatively spliced transcript variants have been described. [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": 0, "reported_mutagensis": 1, "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": "A8K512;Q13290;Q7Z2L6;Q7Z2L7;Q9BUB8;Q9BW05;Q9UDG6", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "5.3.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.8", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "type": "external" }, { "id": "1.8.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.1.4", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "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": "2.3.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.37", "type": "external" }, { "id": "4.98.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:4.98.1.1", "type": "external" }, { "id": "1.1.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.38", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "4.2.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.17", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.7.1.-", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "1.3.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.1", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "1.1.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.41", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "3.4.21.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.92", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "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": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0004165 delta(3)-delta(2)-enoyl-CoA isomerase activity;GO:0016863 intramolecular oxidoreductase activity, transposing C=C bonds", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006635 fatty acid beta-oxidation;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P42126-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52798-1", "uniprot_id": [ { "id": "EFNA4_HUMAN", "url": "https://www.uniprot.org/uniprot/P52798", "type": "external" } ], "mass": 22386.0, "length": 201, "protein_name": "Ephrin-A4", "gene_name": "EFNA4", "organism": "Human", "refseq_name": "ephrin-A4 isoform a precursor", "refseq_ac": [ { "id": "NP_005218", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005218", "type": "external" } ], "gene_names_uniprotkb": "EFNA4; EPLG4; LERK4", "gene_names_refseq": "EFL4; EFNA4; EPLG4; LERK-4; LERK4", "protein_names_uniprotkb": "Ephrin-A4; EPH-related receptor tyrosine kinase ligand 4; LERK-4", "protein_names_refseq": "eph-related receptor tyrosine kinase ligand 4; ephrin-A4 isoform a precursor; ligand of eph-related kinase 4", "tax_id": 9606, "disease": "extrahepatic cholestasis (Disease Ontology:DOID:13619); intrahepatic cholestasis (Disease Ontology:DOID:1852); asthma (Disease Ontology:DOID:2841); acute kidney failure (Disease Ontology:DOID:3021)", "pathway": " (hsa:1945); (R-HSA-2682334); (R-HSA-3928663); (R-HSA-3928665)", "pathway_count": 4, "publication_count": 55, "publication_id_list": "10.1101/2023.09.13.557529;10607706;10769020;10848605;11179879;11448999;11780069;12084815;12495863;12973357;15340161;15351694;15848799;15848800;16511561;17322526;17428795;17928214;18713744;19525919;20496116;23090970;23481700;24190977;24715725;25576301;25645385;26154972;28218747;28832583;29242379;29437277;29557506;29741879;29789417;30315122;30779550;31844290;31848261;31937595;32157095;32387766;32502341;33141586;33298915;33436772;33936100;34211107;34509645;35051231;36404439;37074911;38253038;7838529;9499402", "class_list": "", "function": "Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. May play a role in the interaction between activated B-lymphocytes and dendritic cells in tonsils., [UniProtKB]; Ephrin A4-ephrin receptor A10 signaling promotes cell migration and spheroid formation by upregulating NANOG expression in oral squamous cell carcinoma cells. Publication Status: Online-Only, [RefSeq, PubMed]; Interference of EFNA4 suppresses cell proliferation, invasion and angiogenesis in hepatocellular carcinoma by downregulating PYGO2., [RefSeq, PubMed]; This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin that has been implicated in proliferation and metastasis of several types of cancers. [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": 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": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "C9JHJ8;G3XAK2;O95457;Q5SR71;Q6FI57", "ec_number_list": [], "go_molecular_function": "GO:0046875 ephrin receptor binding;GO:0005005 transmembrane-ephrin receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0048013 ephrin receptor signaling pathway;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P52798-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52799-1", "uniprot_id": [ { "id": "EFNB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52799", "type": "external" } ], "mass": 36923.0, "length": 333, "protein_name": "Ephrin-B2", "gene_name": "EFNB2", "organism": "Human", "refseq_name": "ephrin-B2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_004084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004084", "type": "external" } ], "gene_names_uniprotkb": "EFNB2; EPLG5; HTKL; LERK5", "gene_names_refseq": "EFNB2; EPLG5; HTKL; Htk-L; LERK5; ephrin-B2", "protein_names_uniprotkb": "Ephrin-B2; EPH-related receptor tyrosine kinase ligand 5; HTK ligand; HTK-L; LERK-5", "protein_names_refseq": "HTK ligand; eph-related receptor tyrosine kinase ligand 5; ephrin-B2 isoform 1 precursor; ligand of eph-related kinase 5", "tax_id": 9606, "disease": "atrichia with papular lesions (Disease Ontology:DOID:0060689); colorectal carcinoma (Disease Ontology:DOID:0080199); stomach cancer (Disease Ontology:DOID:10534); colon carcinoma (Disease Ontology:DOID:1520); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); varicose veins (Disease Ontology:DOID:799); nasopharynx carcinoma (Disease Ontology:DOID:9261); irritable bowel syndrome (Disease Ontology:DOID:9778)", "pathway": " (hsa:1948); (R-HSA-2682334); (R-HSA-3928662); (R-HSA-3928664); (R-HSA-3928665)", "pathway_count": 5, "publication_count": 83, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10047984;10219243;10848605;10995436;11058585;11134074;11448999;11557983;11580899;11747816;11780069;11804587;11983165;12084815;12495863;12546821;12606549;12676796;12695502;12702722;12734395;12973357;14988728;15096211;15351694;15378065;15548136;15721239;15764601;15800193;15848800;15951569;15998730;16007075;16298995;16477309;16511561;16867992;17016520;17310244;17322526;17376907;17389395;17428795;17440041;17548511;17928214;18488039;18669648;18713744;19525919;19553453;19836338;19875447;19915143;20496116;2201922;23090970;23584533;24190977;25813380;26992070;28931592;29391424;31217245;32350084;33968037;34019948;35051231;35251023;37074911;37212547;38150042;38636690;39190384;7478585;7534404;8559144;9499402;9533549", "class_list": "", "function": "(Microbial infection) Acts as a receptor for Hendra virus and Nipah virus., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to receptor tyrosine kinase including EPHA4, EPHA3 and EPHB4. Together with EPHB4 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. May play a role in constraining the orientation of longitudinally projecting axons., [UniProtKB, PubMed]; Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology. Publication Status: Online-Only, [RefSeq, PubMed]; Ephrin B2 (EFNB2) potentially protects against intervertebral disc degeneration through inhibiting nucleus pulposus cell apoptosis., [RefSeq, PubMed]; EphrinB2 drives osteogenic fate of adult cardiac fibroblasts in a calcium influx dependent manner., [RefSeq, PubMed]; Hypoxia-Induced Ephrin-B2 Facilitates Proliferation and Induces Glycolytic Metabolism in Cutaneous Squamous Cell Carcinoma by Modulating PKM2/HIF-1alpha Axis., [RefSeq, PubMed]; This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [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": 3, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 17, "disease_count": 8, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q5JV56", "ec_number_list": [], "go_molecular_function": "GO:0046875 ephrin receptor binding;GO:0001618 virus receptor activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0099054 presynapse assembly;GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0008284 positive regulation of cell population proliferation;GO:0048013 ephrin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P52799-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61550-1", "uniprot_id": [ { "id": "ENVT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P61550", "type": "external" } ], "mass": 68171.0, "length": 626, "protein_name": "Endogenous retrovirus group S71 member 1 Env polyprotein", "gene_name": "ERVS71-1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERVS71-1", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group S71 member 1 Env polyprotein; Envelope polyprotein; HERV-T Env protein; HERV-T_19q13.11 provirus ancestral Env polyprotein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "12970426;14557543;32488085;35051231", "class_list": "", "function": "Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties., [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": "I7GPQ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P61550-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14956-1", "uniprot_id": [ { "id": "GPNMB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14956", "type": "external" } ], "mass": 63923.0, "length": 572, "protein_name": "Transmembrane glycoprotein NMB", "gene_name": "GPNMB", "organism": "Human", "refseq_name": "transmembrane glycoprotein NMB isoform a precursor", "refseq_ac": [ { "id": "NP_001005340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005340", "type": "external" } ], "gene_names_uniprotkb": "GPNMB; HGFIN; NMB; PRO9925", "gene_names_refseq": "GPNMB; HGFIN; NMB; PLCA3", "protein_names_uniprotkb": "Transmembrane glycoprotein NMB; Hematopoietic growth factor inducible neurokinin-1 type", "protein_names_refseq": "glycoprotein (transmembrane) nmb; glycoprotein nmb-like protein; glycoprotein nonmetastatic melanoma protein B; hematopoietic growth factor inducible neurokinin-1 type; osteoactivin; transmembrane glycoprotein HGFIN; transmembrane glycoprotein NMB isoform a precursor; transmembrane glycoprotein NMB", "tax_id": 9606, "disease": "pigment dispersion syndrome (Disease Ontology:DOID:0060680); primary localized cutaneous amyloidosis 3 (Disease Ontology:DOID:0080932); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:10457); (R-HSA-8857538)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12609765;12643545;12975309;16489096;16609006;16959974;17081065;19159218;19416385;21081667;24029068;25576301;25645385;26751287;27452731;27600516;27726376;27846572;27869121;28904123;29242379;29336782;29557506;29741879;29786170;29789417;30429286;30459171;31844290;32157095;32162841;32350084;32387766;32488085;32938616;32983136;33043033;33968037;34185709;34357683;34509645;34725712;35051231;35251023;35318648;35580925;36284347;37074911;37938771;38501371;38566120;38614127;38789534;39024681;39849576;40038549;7814155", "class_list": "glycogene", "function": "Could be a melanogenic enzyme., [UniProtKB, UniProtKB, UniProtKB]; Glycoprotein non-metastatic melanoma protein B (GPNMB): An attractive target in atherosclerosis. Review article, [RefSeq, PubMed]; Glycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for lymphangioleiomyomatosis. Publication Status: Online-Only, [RefSeq, PubMed]; Glycoprotein nonmetastatic melanoma protein B impacts the malignant potential of bladder cancer cells through its hem-immunoreceptor tyrosine-based activation motif., [RefSeq, PubMed]; The E3 ubiquitin-protein ligase UHRF1 promotes adipogenesis and limits fibrosis by suppressing GPNMB-mediated TGF-beta signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor associated microglia/macrophages utilize GPNMB to promote tumor growth and alter immune cell infiltration in glioma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 6, "predicted_n_glycosites": 5, "predicted_o_glycosites": 1, "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": 7, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 7, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 7, "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": 765, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 213, "disease_count": 3, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A4D155;Q6UVX1;Q8N1A1", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0008201 heparin binding;GO:0042056 chemoattractant activity;GO:0048018 receptor ligand activity;GO:0045545 syndecan binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031901 early endosome membrane;GO:0033162 melanosome membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0008285 negative regulation of cell population proliferation;GO:0030335 positive regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 28.2, "record_id": "Q14956-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100011001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q19T08-1", "uniprot_id": [ { "id": "ECSCR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q19T08", "type": "external" } ], "mass": 21295.0, "length": 205, "protein_name": "Endothelial cell-specific chemotaxis regulator", "gene_name": "ECSCR", "organism": "Human", "refseq_name": "endothelial cell-specific chemotaxis regulator isoform 1 precursor", "refseq_ac": [ { "id": "NP_001071161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071161", "type": "external" } ], "gene_names_uniprotkb": "ECSCR; ECSM2", "gene_names_refseq": "ARIA; ECSCR; ECSM2", "protein_names_uniprotkb": "Endothelial cell-specific chemotaxis regulator; ARIA; Apoptosis regulator through modulating IAP expression; Endothelial cell-specific molecule 2", "protein_names_refseq": "apoptosis regulator through modulating IAP expression; endothelial cell-specific chemotaxis regulator isoform 1 precursor; endothelial cell-specific chemotaxis regulator; endothelial cell-specific molecule 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:641700)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "18556573;19240791;19267780;19416853;23147565;23393131;26956051;30459171;31154438;35051231", "class_list": "", "function": "Characterize a novel cell surface protein ECSM2 that regulates endothelial chemotaxis and tube formation, and interacts with filamin A., [RefSeq, PubMed]; ECSM2 is involved in cell-shape changes and actin cytoskeletal rearrangement, suppresses tyrosine phosphorylation signaling and ECSM2 can cross-talk with EGFR to attenuate the EGF-induced cell migration., [RefSeq, PubMed]; Endothelial cell-specific chemotaxis receptor (ECSCR) enhances vascular endothelial growth factor (VEGF) receptor-2/kinase insert domain receptor (KDR) activation and promotes proteolysis of internalized KDR., [RefSeq, PubMed]; Identification of three novel full-length splice variants potentially encoding different protein isoforms, [RefSeq, PubMed]; Knockdown of ARIA in HUVECs significantly reduced endothelial apoptosis without affecting either cell migration or proliferation. ARIA knockdown significantly increased inhibitor of apoptosis cIAP-1 and cIAP-2 protein expression, [RefSeq, PubMed]; Low expression level of ECSCR is associated with evasive resistance and disease progression in cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulates endothelial chemotaxis and tube formation. Has a role in angiogenesis and apoptosis via modulation of the actin cytoskeleton and facilitation of proteasomal degradation of the apoptosis inhibitors BIRC3/IAP1 and BIRC2/IAP2., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4E3H7;C3RSF2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0006935 chemotaxis;GO:0030154 cell differentiation;GO:0006915 apoptotic process;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q19T08-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5THR3-1", "uniprot_id": [ { "id": "EFCB6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5THR3", "type": "external" } ], "mass": 172930.0, "length": 1501, "protein_name": "EF-hand calcium-binding domain-containing protein 6", "gene_name": "EFCAB6", "organism": "Human", "refseq_name": "EF-hand calcium-binding domain-containing protein 6 isoform a", "refseq_ac": [ { "id": "NP_073622", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073622", "type": "external" } ], "gene_names_uniprotkb": "EFCAB6; DJBP; KIAA1672", "gene_names_refseq": "DJBP; EFCAB6; HSCBCIP1; dJ185D5.1", "protein_names_uniprotkb": "EF-hand calcium-binding domain-containing protein 6; CAP-binding protein complex-interacting protein 1; DJ-1-binding protein; DJBP", "protein_names_refseq": "CAP-binding protein complex-interacting protein 1; DJ-1-binding protein; EF-hand calcium-binding domain-containing protein 6 isoform a; EF-hand calcium-binding domain-containing protein 6; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64800)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;11258795;12612053;18477386;19664994;24714562;27600516;27869121;28904123;30620550;31844290;33141586;33392160;35051231;37217939;39894887", "class_list": "", "function": "Androgen receptor is positively regulated by DJ-1, which antagonizes the function of negative regulators, including DJBP, a novel DJ-1-binding protein, [RefSeq, PubMed]; Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex (PubMed:12612053). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (By similarity)., [UniProtKB, PubMed, UniProtKB]; This gene encodes a protein which directly binds the oncogene DJ-1 and androgen receptor to form a ternary complex in cells. This binding protein recruits histone-deacetylase complexes in order to repress transcription activity of androgen receptor. This protein may also play a role in spermatogenesis and fertilization. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]., [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "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": "A8K8P6;A8K8Y3;B0QYI4;B0QYI6;Q5U5T6;Q9BY88;Q9H5C4;Q9NSF5", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0036126 sperm flagellum;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5THR3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q63HQ2-1", "uniprot_id": [ { "id": "EGFLA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q63HQ2", "type": "external" } ], "mass": 111271.0, "length": 1017, "protein_name": "Pikachurin", "gene_name": "EGFLAM", "organism": "Human", "refseq_name": "pikachurin isoform 5 precursor", "refseq_ac": [ { "id": "NP_001192230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192230", "type": "external" } ], "gene_names_uniprotkb": "EGFLAM; AGRINL; AGRNL; PIKA", "gene_names_refseq": "AGRINL; AGRNL; EGFLAM; PIKA", "protein_names_uniprotkb": "Pikachurin; Agrin-like protein; EGF-like, fibronectin type-III and laminin G-like domain-containing protein", "protein_names_refseq": "EGF-like, fibronectin type-III and laminin G-like domain-containing protein; agrin-like protein; pikachurin isoform 5 precursor; pikachurin", "tax_id": 9606, "disease": "", "pathway": " (hsa:133584)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1038/emboj.2013.79;11237011;23481700;23584533;24715725;28228285;28339009;29557506;29632711;29769354;30429286;30459171;30779550;30829611;35051231;35494241;37490546;37938771;38253038;38996666", "class_list": "", "function": "EGFLAM exhibits oncogenic activity and shows promise as a prognostic biomarker and therapeutic target in glioblastoma., [RefSeq, PubMed]; Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Plays a key role in the synaptic organization of photoreceptors by mediating transsynaptic interaction between alpha-dystroglycan and GPR179 on the postsynaptic membrane. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness., [UniProtKB, UniProtKB]; Rs1465567 of EGFLAM and rs113710653 of SPATC1L may be susceptibility loci for true aortic aneurysm and rs143881017 of RNASE13 may be such a locus for dissecting aortic aneurysm in Japanese individuals., [RefSeq, PubMed]; Structure of the photoreceptor synaptic assembly of the extracellular matrix protein pikachurin with the orphan receptor GPR179., [RefSeq, PubMed]; This is the first report to describe that EGFLAM promoted the proliferation, migration and invasion of GBM cells via the activation of PI3K/AKT pathway, and predicted poor prognosis in GBM patients., [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": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "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": 68, "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": "A8K6D7;Q5U643;Q6P3V1;Q8N124;Q8N197;Q8N7Y0;Q8N8N5;Q8NAL2", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005509 calcium ion binding;GO:0005539 glycosaminoglycan binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0048786 presynaptic active zone;GO:0043083 synaptic cleft;GO:0005604 basement membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0007416 synapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q63HQ2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3Z2-1", "uniprot_id": [ { "id": "RD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3Z2", "type": "external" } ], "mass": 22704.0, "length": 195, "protein_name": "Protein RD3", "gene_name": "RD3", "organism": "Human", "refseq_name": "protein RD3", "refseq_ac": [ { "id": "NP_001158160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158160", "type": "external" } ], "gene_names_uniprotkb": "RD3; C1orf36", "gene_names_refseq": "C1orf36; LCA12; RD3", "protein_names_uniprotkb": "Protein RD3; Retinal degeneration protein 3", "protein_names_refseq": "protein RD3; retinal degeneration 3, GUCY2D regulator; retinal degeneration protein 3", "tax_id": 9606, "disease": "Leber congenital amaurosis 12 (Disease Ontology:DOID:0110080); Leber congenital amaurosis (Disease Ontology:DOID:14791); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:343035)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "12914764;17186464;21078983;21928830;24715725;26100624;27471269;29030614;29515371;30559291;32493772", "class_list": "", "function": "Identification and sequence analysis of C1orf36., [RefSeq, PubMed]; Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:21078983, PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment (PubMed:21078983). Up-regulates the activity of GUK1, a kinase that also plays an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371). Plays an important role for the survival of rods and cones in the retina (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The NMR structure of RD3 presented here provides a structural basis for elucidating RD3-RetGC interactions relevant for normal vision or blindness., [RefSeq, PubMed]; The retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing. Erratum:[Am J Hum Genet. 2007 Feb;80(2):388], [RefSeq, PubMed]; This gene encodes a retinal protein that is associated with promyelocytic leukemia-gene product (PML) bodies in the nucleus. Mutations in this gene cause Leber congenital amaurosis type 12, a disease that results in retinal degeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]., [RefSeq]; Two clusters of surface-exposed amino acid residues enable high-affinity binding of retinal degeneration-3 (RD3) protein to retinal guanylyl cyclase., [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": 10, "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": "A8K595", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0048471 perinuclear region of cytoplasm;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0031283 negative regulation of guanylate cyclase activity;GO:0015031 protein transport;GO:0007601 visual perception;GO:0060041 retina development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q7Z3Z2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5K651-1", "uniprot_id": [ { "id": "SAMD9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5K651", "type": "external" } ], "mass": 184281.0, "length": 1589, "protein_name": "Sterile alpha motif domain-containing protein 9", "gene_name": "SAMD9", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 9", "refseq_ac": [ { "id": "NP_001180236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180236", "type": "external" } ], "gene_names_uniprotkb": "SAMD9; C7orf5; DRIF1; KIAA2004; OEF1", "gene_names_refseq": "C7orf5; DRIF1; M7MLS2; MIRAGE; NFTC; OEF1; OEF2; SAMD9", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 9; SAM domain-containing protein 9", "protein_names_refseq": "SAM domain-containing protein 9; expressed in aggressive fibromatosis; sterile alpha motif domain-containing protein 9", "tax_id": 9606, "disease": "normophosphatemic familial tumoral calcinosis (Disease Ontology:DOID:0080170); MIRAGE syndrome (MONDO:MONDO:0014888); monosomy 7 myelodysplasia and leukemia syndrome 2 (MONDO:MONDO:0030801)", "pathway": " (hsa:54809)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "11237011;16960814;17407603;18094730;18452278;19830690;20068231;21160498;24029230;25418920;25428864;25505266;25576301;25880248;25892735;26375851;26811146;27182967;27846572;27920218;28063628;28157624;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29786170;30046003;30315122;30429286;30620550;31154438;31844290;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33633747;33912179;33968037;34087483;34171305;34185709;34357683;34509645;34932366;35046037;35051231;35318648;35561310;35580925;36010968;36284347;36757050;36894052;37357006;37612499;37938771;38848876;40914422", "class_list": "", "function": "Double-stranded nucleic acid binding that acts as an antiviral factor by playing an essential role in the formation of cytoplasmic antiviral granules (PubMed:25428864, PubMed:28157624). May play a role in the inflammatory response to tissue injury and the control of extra-osseous calcification, acting as a downstream target of TNF signaling. Involved in the regulation of EGR1, in coordination with RGL2. May be involved in endosome fusion., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mutation analysis revealed a homozygous mutation in the SAMD9 gene (K1495E), which was found to segregate with the disease in all families and to interfere with the protein expression., [RefSeq, PubMed]; Overexpression of human SAMD9 inhibits protein translation and alters MYC signaling resulting in cell cycle arrest., [RefSeq, PubMed]; PARP14 correlates with GBM proliferation and poor prognosis by elevating expression of SAMD/SAMD9L., [RefSeq, PubMed]; SAMD9 Promotes Postoperative Recurrence of Esophageal Squamous Cell Carcinoma by Stimulating MYH9-Mediated GSK3beta/beta-Catenin Signaling., [RefSeq, PubMed]; SAMD9 and SAMD9L are a novel family of genes, which play a role regulating cell proliferation and suppressing the neoplastic phenotype; the human gene exists in rat, but is lost in mouse, due to a mouse specific rearrangement Publication Status: Online-Only, [RefSeq, PubMed]; SAMD9 could be a key molecule to control cancer cell death by inactivated Sendai virus particle or IFN-beta treatment., [RefSeq, PubMed]; SAMD9 may have a role in the TNF-alpha signaling pathway and in the regulation of extra-osseous calcification, [RefSeq, PubMed]; SAMD9, an IFN-gamma-responsive protein, interacts with RGL2 to diminish the expression of EGR1, a protein of direct relevance to the pathogenesis of ectopic calcification and inflammation., [RefSeq, PubMed]; This gene encodes a sterile alpha motif domain-containing protein. The encoded protein localizes to the cytoplasm and may play a role in regulating cell proliferation and apoptosis. Mutations in this gene are the cause of normophosphatemic familial tumoral calcinosis. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jul 2010]., [RefSeq]; Viral host range factors antagonize pathogenic SAMD9 and SAMD9L variants., [RefSeq, PubMed]; [Pancytopenia in children caused by SAMD9/9L mutation: 5 cases report and literature review]. 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 61, "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": "A2RU68;Q5K649;Q6P080;Q75N21;Q8IVG6;Q9NXS8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045087 innate immune response;GO:0034058 endosomal vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q5K651-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13866-1", "uniprot_id": [ { "id": "SC5A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P13866", "type": "external" } ], "mass": 73498.0, "length": 664, "protein_name": "Sodium/glucose cotransporter 1", "gene_name": "SLC5A1", "organism": "Human", "refseq_name": "sodium/glucose cotransporter 1 isoform 1", "refseq_ac": [ { "id": "NP_000334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000334", "type": "external" } ], "gene_names_uniprotkb": "SLC5A1; NAGT; SGLT1", "gene_names_refseq": "D22S675; NAGT; SGLT-1; SGLT1; SLC5A1", "protein_names_uniprotkb": "Sodium/glucose cotransporter 1; High affinity sodium-glucose cotransporter; Na(+)/glucose cotransporter 1; Solute carrier family 5 member 1", "protein_names_refseq": "Na+/glucose cotransporter 1; high affinity sodium-glucose cotransporter; sodium/glucose cotransporter 1 isoform 1; solute carrier family 5 (sodium/glucose cotransporter), member 1", "tax_id": 9606, "disease": "glucose-galactose malabsorption (Disease Ontology:DOID:0070563)", "pathway": " (hsa:6523); (R-HSA-189200); (R-HSA-5656364); (R-HSA-8981373)", "pathway_count": 4, "publication_count": 84, "publication_id_list": "10.1074/mcp.M114.046862;10036327;10821868;10860667;10970791;10987651;11133510;11245466;11247674;11406349;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12139397;12504846;12590146;12885248;1415574;1449065;14614622;14695256;14739288;14997204;15033637;1550217;15546855;15607332;15902306;16154905;1634504;16550171;16788146;1701966;17050778;1756912;17635959;18063724;18327257;1918382;2008213;20486940;20616166;20980548;21107422;21940664;22212718;22521588;2490366;25813380;2656669;26650681;2681963;26945065;27862975;28411811;28974690;29333720;29557506;30459171;31154438;31844290;33592498;34880492;35051231;35077764;35361267;35580925;36284347;36465606;36746764;37217492;37510265;8195156;8457197;8563765;8567640;8844006;9309206;9354798;9751501", "class_list": "glycogene", "function": "A risk model of gene signatures for predicting platinum response and survival in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Decreased expression of Glucagon-like peptide-1 receptor and Sodium-glucose co-transporter 2 in patients with proliferative diabetic retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose or D-galactose at the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:34880492, PubMed:35077764, PubMed:8563765, PubMed:37217492). Has a primary role in the transport of dietary monosaccharides from enterocytes to blood. Responsible for the absorption of D-glucose or D-galactose across the apical brush-border membrane of enterocytes, whereas basolateral exit is provided by GLUT2. Additionally, functions as a D-glucose sensor in enteroendocrine cells, triggering the secretion of the incretins GCG and GIP that control food intake and energy homeostasis (By similarity) (PubMed:8563765). Together with SGLT2, functions in reabsorption of D-glucose from glomerular filtrate, playing a nonredundant role in the S3 segment of the proximal tubules (By similarity). Transports D-glucose into endometrial epithelial cells, controlling glycogen synthesis and nutritional support for the embryo as well as the decidual transformation of endometrium prior to conception (PubMed:28974690). Acts as a water channel enabling passive water transport across the plasma membrane in response to the osmotic gradient created upon sugar and Na(+) uptake. Has high water conductivity, comparable to aquaporins, and therefore is expected to play an important role in transepithelial water permeability, especially in the small intestine., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Obesity and overweight are linked to increased sodium-glucose cotransporter 1 and glucose transporter 5 levels in duodenum., [RefSeq, PubMed]; SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple 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": 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": 0, "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": 2, "reported_phosphosites": 2, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 762, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2R7E2;B7Z4Q9;B7ZA69", "ec_number_list": [], "go_molecular_function": "GO:0005367 myo-inositol:sodium symporter activity;GO:0005412 D-glucose:sodium symporter activity;GO:0005372 water transmembrane transporter activity;GO:0055056 D-glucose transmembrane transporter activity;GO:0005354 galactose transmembrane transporter activity", "go_cellular_component": "GO:0097708 intracellular vesicle;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0035623 renal D-glucose absorption;GO:0106001 intestinal hexose absorption;GO:1904659 D-glucose transmembrane transport;GO:0001951 intestinal D-glucose absorption;GO:0035377 transepithelial water transport", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P13866-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P24278-1", "uniprot_id": [ { "id": "ZBT25_HUMAN", "url": "https://www.uniprot.org/uniprot/P24278", "type": "external" } ], "mass": 48990.0, "length": 435, "protein_name": "Zinc finger and BTB domain-containing protein 25", "gene_name": "ZBTB25", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 25 isoform a", "refseq_ac": [ { "id": "NP_001291436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291436", "type": "external" } ], "gene_names_uniprotkb": "ZBTB25; C14orf51; KUP; ZNF46", "gene_names_refseq": "C14orf51; KUP; ZBTB25; ZNF46", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 25; Zinc finger protein 46; Zinc finger protein KUP", "protein_names_refseq": "zinc finger and BTB domain-containing protein 25 isoform a; zinc finger and BTB domain-containing protein 25; zinc finger protein 46; zinc finger protein KUP", "tax_id": 9606, "disease": "", "pathway": " (hsa:7597)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;2027750;20410506;25576301;25755297;26768311;26992070;27862975;28063628;28228285;28832583;28834231;29242379;29557506;29632046;31217245;31844290;33298915;33627504;34171305;34932366;35051231;35580925;36284347;37890782", "class_list": "", "function": "E3 ubiquitin ligase ZBTB25 suppresses beta coronavirus infection through ubiquitination of the main viral protease MPro., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Transcription Repressor Protein ZBTB25 Associates with HDAC1-Sin3a Complex in Mycobacterium tuberculosis-Infected Macrophages, and Its Inhibition Clears Pathogen by Autophagy. Publication Status: Online-Only, [RefSeq, PubMed]; ZBTB25 functions as a negative regulator of nuclear factor of activated T cells (NF-AT) activation, such that RNA interference mediated knockdown resulted in enhanced activation of target 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KUX6;Q8IYH9", "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_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P24278-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75356-1", "uniprot_id": [ { "id": "ENTP5_HUMAN", "url": "https://www.uniprot.org/uniprot/O75356", "type": "external" } ], "mass": 47517.0, "length": 428, "protein_name": "Nucleoside diphosphate phosphatase ENTPD5", "gene_name": "ENTPD5", "organism": "Human", "refseq_name": "nucleoside diphosphate phosphatase ENTPD5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240", "type": "external" } ], "gene_names_uniprotkb": "ENTPD5; CD39L4; PCPH", "gene_names_refseq": "CD39L4; ENTPD5; NTPDase-5; PCPH", "protein_names_uniprotkb": "Nucleoside diphosphate phosphatase ENTPD5; 3.6.1.6; CD39 antigen-like 4; ER-UDPase; Ectonucleoside triphosphate diphosphohydrolase 5; GDPase ENTPD5; Guanosine-diphosphatase ENTPD5; Inosine diphosphate phosphatase ENTPD5; NTPDase 5; Nucleoside diphosphatase; UDPase ENTPD5; Uridine-diphosphatase ENTPD5", "protein_names_refseq": "CD39 antigen-like 4; CD39-like 4; ER-UDPase; GDPase ENTPD5; NTPDase 5; Pcph proto-oncogene protein; UDPase ENTPD5; guanosine-diphosphatase ENTPD5; inosine diphosphate phosphatase ENTPD5; nucleoside diphosphatase; nucleoside diphosphate phosphatase ENTPD5 isoform 1 precursor; nucleoside diphosphate phosphatase ENTPD5; proto-oncogene CPH; uridine-diphosphatase ENTPD5", "tax_id": 9606, "disease": "combined or isolated pituitary hormone deficiency 1 (Disease Ontology:DOID:0061019); pituitary gland disease (Disease Ontology:DOID:53)", "pathway": " (hsa:957); (R-HSA-8850843); (R-HSA-9660826)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;10400613;10470077;10510450;10681547;10708485;10866813;10948193;11041856;11041857;11237011;11278936;11313357;11927941;11929769;12694193;12888562;14529283;14675084;15122917;15130768;15698960;16335952;16338080;17095758;17502665;18404504;18404510;19159218;19640930;20682839;21074248;21586362;22169232;23241884;23817414;23878142;24190977;26116704;29557506;29741879;29789417;31154438;32350084;33963715;34075526;34272651;35051231;35251023;35580925;36849424;37074911;8955160;8995405;9364474;9556635;9675246;9676430", "class_list": "", "function": "ENTPD5 splice variants: novel players in cancer? Review article, [RefSeq, PubMed]; ENTPD5: identification of splicing variants and their impact on cancer survival., [RefSeq, PubMed]; Hydrolyzes nucleoside diphosphates with a preference for GDP, IDP and UDP compared to ADP and CDP (PubMed:10400613, PubMed:15698960). In the lumen of the endoplasmic reticulum, hydrolyzes UDP that acts as an end-product feedback inhibitor of the UDP-Glc:glycoprotein glucosyltransferases. UMP can be transported back by an UDP-sugar antiporter to the cytosol where it is consumed to regenerate UDP-glucose. Therefore, it positively regulates protein reglucosylation by clearing UDP from the ER lumen and by promoting the regeneration of UDP-glucose. Protein reglucosylation is essential to proper glycoprotein folding and quality control in the ER (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Hydrolyzes nucleoside diphosphates with a preference for GDP, IDP and UDP compared to ADP and CDP. In the lumen of the endoplasmic reticulum, hydrolyzes UDP that acts as an end-product feedback inhibitor of the UDP-Glc:glycoprotein glucosyltransferases. UMP can be transported back by an UDP-sugar antiporter to the cytosol where it is consumed to regenerate UDP-glucose. Therefore, it positively regulates protein reglucosylation by clearing UDP from the ER lumen and by promoting the regeneration of UDP-glucose. Protein reglucosylation is essential to proper glycoprotein folding and quality control in the ER., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The UDPase ENTPD5 regulates ER stress-associated renal injury by mediating protein N-glycosylation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]., [RefSeq]; [ENTPD5 gene is highly expressed in epithelial ovarian cancer: analysis based on Oncomine database and bioinformatics]., [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": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 16, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A1L4C5;Q96RX0", "ec_number_list": [ { "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": "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": "3.6.1.-", "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": "3.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.16", "type": "external" }, { "id": "3.6.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.53", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "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" } ], "go_molecular_function": "GO:0004382 GDP phosphatase activity;GO:0043262 ADP phosphatase activity;GO:0045134 UDP phosphatase activity;GO:1990003 IDP phosphatase activity;GO:0036384 CDP phosphatase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006256 UDP catabolic process;GO:0006487 protein N-linked glycosylation;GO:0006011 UDP-alpha-D-glucose metabolic process;GO:0051084 'de novo' post-translational protein folding", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O75356-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GTR0-1", "uniprot_id": [ { "id": "EDD13_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GTR0", "type": "external" } ], "mass": 18455.0, "length": 161, "protein_name": "Epididymal protein 13", "gene_name": "EDDM13", "organism": "Human", "refseq_name": "epididymal protein 13 precursor", "refseq_ac": [ { "id": "NP_001341587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001341587", "type": "external" } ], "gene_names_uniprotkb": "EDDM13", "gene_names_refseq": "EDDM13", "protein_names_uniprotkb": "Epididymal protein 13", "protein_names_refseq": "epididymal protein 13 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:100506374)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GTR0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01133-1", "uniprot_id": [ { "id": "EGF_HUMAN", "url": "https://www.uniprot.org/uniprot/P01133", "type": "external" } ], "mass": 133994.0, "length": 1207, "protein_name": "Pro-epidermal growth factor", "gene_name": "EGF", "organism": "Human", "refseq_name": "pro-epidermal growth factor isoform 2 precursor", "refseq_ac": [ { "id": "NP_001171601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171601", "type": "external" } ], "gene_names_uniprotkb": "EGF", "gene_names_refseq": "EGF; HOMG4; URG", "protein_names_uniprotkb": "Pro-epidermal growth factor; EGF; Urogastrone", "protein_names_refseq": "beta-urogastrone; pro-epidermal growth factor isoform 2 precursor; pro-epidermal growth factor", "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); microcephaly (Disease Ontology:DOID:10907); 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:1950); (R-HSA-114608); (R-HSA-1227986); (R-HSA-1236382); (R-HSA-1236394); (R-HSA-1250196); (R-HSA-1251932); (R-HSA-1257604); (R-HSA-177929); (R-HSA-179812); (R-HSA-180292); (R-HSA-180336); (R-HSA-182971); (R-HSA-1963640); (R-HSA-1963642); (R-HSA-212718); (R-HSA-2219530); (R-HSA-5637810); (R-HSA-5638303); (R-HSA-5673001); (R-HSA-6785631); (R-HSA-6811558); (R-HSA-8847993); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-8863795); (R-HSA-9009391); (R-HSA-9013507); (R-HSA-9634638); (R-HSA-9664565); (R-HSA-9665348); (R-HSA-9665686); (R-HSA-9725554); (R-HSA-9818030); (R-HSA-9927418); (R-HSA-9927432); (R-HSA-9937080)", "pathway_count": 37, "publication_count": 632, "publication_id_list": 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"class_list": "", "function": "EGF stimulates the growth of various epidermal and epithelial tissues in vivo and in vitro and of some fibroblasts in cell culture. Magnesiotropic hormone that stimulates magnesium reabsorption in the renal distal convoluted tubule via engagement of EGFR and activation of the magnesium channel TRPM6. Can induce neurite outgrowth in motoneurons of the pond snail Lymnaea stagnalis in vitro (PubMed:10964941)., [UniProtKB, PubMed, PubMed]; ETS1 drives EGF-induced glycolytic shift and metastasis of epithelial ovarian cancer cells., [RefSeq, PubMed]; NRF2 regulates EGF stability through OTUD4 in lung adenocarcinoma., [RefSeq, PubMed]; Searching for EGF Fragments Recreating the Outer Sphere of the Growth Factor Involved in Receptor Interactions. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "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": 46, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 23, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B4DRK7;E7EVD2;E9PBF0;Q52LZ6", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0005154 epidermal growth factor receptor binding;GO:0008083 growth factor activity;GO:0030297 transmembrane receptor protein tyrosine kinase activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031093 platelet alpha granule lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0090279 regulation of calcium ion import;GO:1902966 positive regulation of protein localization to early endosome;GO:0046425 regulation of receptor signaling pathway via JAK-STAT;GO:0001525 angiogenesis;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 65.3, "record_id": "P01133-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13571-1", "uniprot_id": [ { "id": "LAPM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13571", "type": "external" } ], "mass": 29937.0, "length": 262, "protein_name": "Lysosomal-associated transmembrane protein 5", "gene_name": "LAPTM5", "organism": "Human", "refseq_name": "lysosomal-associated transmembrane protein 5", "refseq_ac": [ { "id": "NP_006753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006753", "type": "external" } ], "gene_names_uniprotkb": "LAPTM5; KIAA0085", "gene_names_refseq": "CLAST6; LAPTM5", "protein_names_uniprotkb": "Lysosomal-associated transmembrane protein 5; Lysosomal-associated multitransmembrane protein 5; Retinoic acid-inducible E3 protein", "protein_names_refseq": "CD40-ligand-activated specific transcripts; human retinoic acid-inducible E3 protein; lysosomal associated multispanning membrane protein 5; lysosomal multispanning membrane protein 5; lysosomal-associated multitransmembrane protein 5; lysosomal-associated transmembrane protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:7805)", "pathway_count": 1, "publication_count": 104, "publication_id_list": "12391225;12527926;12886255;16497976;18452278;18507432;21081667;23481700;23555621;23719902;24397554;24715725;25418920;25502872;25505266;25576301;26154972;26375851;26758079;26811146;26929215;26992070;27452731;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28467828;28489076;28514659;28649982;28832583;28834231;28871256;28904123;29242379;29314611;29317506;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30573663;30626607;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32162841;32265295;32350084;32357974;32387766;32502341;32983136;33043033;33091337;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34078123;34185709;34211107;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35494241;35561310;35580925;36037300;36037365;36284347;36799186;37938771;38018874;39096616;7638864;8661146", "class_list": "", "function": "Genome-Scale CRISPR screen identifies LAPTM5 driving lenvatinib resistance in hepatocellular carcinoma., [RefSeq, PubMed]; LAPTM5 mediates immature B cell apoptosis and B cell tolerance by regulating the WWP2-PTEN-AKT pathway., [RefSeq, PubMed]; LAPTM5 regulated by FOXP3 promotes the malignant phenotypes of breast cancer through activating the Wnt/betacatenin pathway., [RefSeq, PubMed]; LAPTM5 shows stage-specific expression during B cell differentiation. It may be involved in B cell malignancies., [RefSeq, PubMed]; May have a special functional role during embryogenesis and in adult hematopoietic cells., [UniProtKB, PubMed]; Results suggest that loss of E3 gene expression might be a crucial event during the progression of human MM, [RefSeq, PubMed]; The function and mechanism of LAPTM5 in diseases. Review article, [RefSeq, PubMed]; This gene encodes a transmembrane receptor that is associated with lysosomes. The encoded protein, also known as E3 protein, may play a role in hematopoiesis. [provided by RefSeq, Feb 2009]., [RefSeq]; ZKSCAN5 activates LAPTM5 expression by recruiting SETD7 to promote metastasis in pancreatic ductal adenocarcinoma., [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": 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": "Q13240;Q14698;Q3KP54", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0140311 protein sequestering activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:2000646 positive regulation of receptor catabolic process;GO:0032703 negative regulation of interleukin-2 production;GO:0097214 positive regulation of lysosomal membrane permeability;GO:0006886 intracellular protein transport;GO:0043410 positive regulation of MAPK cascade", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q13571-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17252-1", "uniprot_id": [ { "id": "KPCA_HUMAN", "url": "https://www.uniprot.org/uniprot/P17252", "type": "external" } ], "mass": 76750.0, "length": 672, "protein_name": "Protein kinase C alpha type", "gene_name": "PRKCA", "organism": "Human", "refseq_name": "protein kinase C alpha type", "refseq_ac": [ { "id": "NP_002728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002728", "type": "external" } ], "gene_names_uniprotkb": "PRKCA; PKCA; PRKACA", "gene_names_refseq": "AAG6; PKC-alpha; PKCA; PKCI+/-; PKCalpha; PRKCA", "protein_names_uniprotkb": "Protein kinase C alpha type; 2.7.11.13; PKC-A; PKC-alpha", "protein_names_refseq": "aging-associated gene 6; protein kinase C alpha type", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate carcinoma (Disease Ontology:DOID:10286); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); dilated cardiomyopathy (Disease Ontology:DOID:12930); alcohol use disorder (Disease Ontology:DOID:1574); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); endometrial carcinoma (Disease Ontology:DOID:2871); high grade glioma (Disease Ontology:DOID:3070); ischemia (Disease Ontology:DOID:326); chordoid glioma (Disease Ontology:DOID:3774); ovarian carcinoma (Disease Ontology:DOID:4001); large cell carcinoma (Disease Ontology:DOID:4552); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:5578); (R-HSA-111933); (R-HSA-114516); (R-HSA-1250196); (R-HSA-1433557); (R-HSA-1433559); (R-HSA-2179392); (R-HSA-2514859); (R-HSA-3000170); (R-HSA-399997); (R-HSA-4086398); (R-HSA-416993); (R-HSA-418597); (R-HSA-4419969); (R-HSA-450520); (R-HSA-5099900); (R-HSA-5218921); (R-HSA-5668599); (R-HSA-76005); (R-HSA-8853659); (R-HSA-9010642)", "pathway_count": 21, "publication_count": 425, "publication_id_list": "10037746;10051575;10072071;10194441;10339425;10358045;10374881;10377264;10380924;10391246;10391247;10395542;10397721;10400704;10421574;10448070;10455184;10488343;10523831;10523834;10564809;10588714;10676965;10679268;10777564;10802064;10848585;10856305;10858654;10884405;10954748;10995764;11000521;11002419;11007876;11015615;11018049;11030334;11042191;11090627;11145705;11237011;11237712;11292825;11313909;11360177;11387210;11390647;11395417;11432829;11470823;11491658;11494148;11520784;11563835;11588141;11600407;11601986;11687658;11707405;11713293;11754336;11809791;11834731;11836255;11886862;11909826;11994499;11997388;12015605;12036349;12052829;12056906;12062105;12086864;12119397;12120503;12162751;12192036;12194018;12242309;12391145;12417014;12444928;12471263;12482967;12499365;12556497;12660731;12665801;12716910;12724315;12729560;12771945;12776187;12824176;12825937;12832403;12840507;12878163;12881490;12893243;12958364;12975316;12975610;1347957;1356371;1371879;1375232;1379636;1381360;1387789;1436039;14530365;14532121;14681059;14702087;14704854;14766744;14976204;14977528;14981256;15016832;15044950;15143187;15247289;15257295;1527003;15277524;15286081;15479743;15494017;15504744;15526160;15545263;15569713;15591124;15611108;15824103;15879121;15889145;15930268;15946941;15951850;16055064;16129412;16274222;16329988;16483568;16484227;16507994;1660188;16636067;16737840;16753580;16762923;16778989;16780420;16861033;16871065;16873377;16880514;16895762;16908407;16920709;16923326;16945929;16964243;17056569;17081983;17114291;1714454;17158099;17178712;17199046;1721591;17255936;17314405;17344430;17344846;17392515;17420445;17426020;17517897;17583407;17636946;17662946;17684012;17893151;17900700;17904548;17919190;18056764;18088087;18285462;18347018;18383439;1840698;18434541;18456304;18488142;18577758;18588518;18669648;18691976;18694939;18697750;18721752;18767875;18803695;19054851;19130553;19176525;19177143;19372727;1939224;19494125;19494126;19501907;19536106;19608861;19651622;19690332;19818506;19827831;19851316;19969380;1999465;20068231;20086103;20166139;20304997;20430952;20513439;20807769;20813901;20876142;20947020;20956805;20975703;21081492;21086135;21118996;21239714;21376233;21413788;21576361;21806543;2188730;2188731;21903638;22134922;22658984;22808130;22941947;22986494;23151663;23186163;23256519;23289851;2336401;23416699;2344612;23632248;23846654;23875749;23904219;23980663;23990668;24275569;24583280;25313067;2540796;25469497;2550422;2558719;25810538;25877926;25882844;26154972;26564794;26590425;26826385;26992070;27536065;27558335;27925688;28028151;2841328;28481056;28502923;28904123;29493099;29557506;2963012;29704617;29864522;29964125;3006923;30379171;30429286;31085175;3164688;31844290;32157095;32387766;32938616;32983136;33298915;33592498;33968037;34405274;34509645;34561969;35051231;35561310;35580925;36010968;36040231;36241641;36284347;37217939;38164042;38665916;38815861;39113702;39159283;4772407;6264430;7506952;7509796;7518560;7520444;7523381;7525588;7526158;7526403;7527043;7536744;7539802;7559455;7595566;7644482;7665556;7670478;7678445;7680037;7682292;7684496;7777544;7929214;7937899;7983048;7989336;8034666;8036006;8042986;8089108;8101647;8132675;8190105;8463284;8493579;8494894;8530511;8609172;8611693;8617750;8626439;8628282;8631863;8636116;8637703;8647802;8662982;8663426;8665853;8674117;8695790;8706659;8774734;8805373;8812493;8856079;8910504;8916229;8950973;8990121;9038210;9045650;9047384;9073455;9111318;9115237;9119368;9135143;9192684;9218480;9232641;9256427;9299438;9353336;9355737;9389482;9395517;9407096;9430683;9446650;9459445;9491986;9506952;9528781;9738012;9753452;9764818;9799234;9804763;9808756;9814702;9830023;9872323;9873035;9883723;9889098;9927633", "class_list": "", "function": "Calcium-activated, phospholipid- and diacylglycerol (DAG)-dependent serine/threonine-protein kinase that is involved in positive and negative regulation of cell proliferation, apoptosis, differentiation, migration and adhesion, tumorigenesis, cardiac hypertrophy, angiogenesis, platelet function and inflammation, by directly phosphorylating targets such as RAF1, BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involving MAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation and cell growth arrest by positive and negative regulation of the cell cycle. Can promote cell growth by phosphorylating and activating RAF1, which mediates the activation of the MAPK/ERK signaling cascade, and/or by up-regulating CDKN1A, which facilitates active cyclin-dependent kinase (CDK) complex formation in glioma cells. In intestinal cells stimulated by the phorbol ester PMA, can trigger a cell cycle arrest program which is associated with the accumulation of the hyper-phosphorylated growth-suppressive form of RB1 and induction of the CDK inhibitors CDKN1A and CDKN1B. Exhibits anti-apoptotic function in glioma cells and protects them from apoptosis by suppressing the p53/TP53-mediated activation of IGFBP3, and in leukemia cells mediates anti-apoptotic action by phosphorylating BCL2. During macrophage differentiation induced by macrophage colony-stimulating factor (CSF1), is translocated to the nucleus and is associated with macrophage development. After wounding, translocates from focal contacts to lamellipodia and participates in the modulation of desmosomal adhesion. Plays a role in cell motility by phosphorylating CSPG4, which induces association of CSPG4 with extensive lamellipodia at the cell periphery and polarization of the cell accompanied by increases in cell motility. During chemokine-induced CD4(+) T cell migration, phosphorylates CDC42-guanine exchange factor DOCK8 resulting in its dissociation from LRCH1 and the activation of GTPase CDC42 (PubMed:28028151). Is highly expressed in a number of cancer cells where it can act as a tumor promoter and is implicated in malignant phenotypes of several tumors such as gliomas and breast cancers. Negatively regulates myocardial contractility and positively regulates angiogenesis, platelet aggregation and thrombus formation in arteries. Mediates hypertrophic growth of neonatal cardiomyocytes, in part through a MAPK1/3 (ERK1/2)-dependent signaling pathway, and upon PMA treatment, is required to induce cardiomyocyte hypertrophy up to heart failure and death, by increasing protein synthesis, protein-DNA ratio and cell surface area. Regulates cardiomyocyte function by phosphorylating cardiac troponin T (TNNT2/CTNT), which induces significant reduction in actomyosin ATPase activity, myofilament calcium sensitivity and myocardial contractility. In angiogenesis, is required for full endothelial cell migration, adhesion to vitronectin (VTN), and vascular endothelial growth factor A (VEGFA)-dependent regulation of kinase activation and vascular tube formation. Involved in the stabilization of VEGFA mRNA at post-transcriptional level and mediates VEGFA-induced cell proliferation. In the regulation of calcium-induced platelet aggregation, mediates signals from the CD36/GP4 receptor for granule release, and activates the integrin heterodimer ITGA2B-ITGB3 through the RAP1GAP pathway for adhesion. During response to lipopolysaccharides (LPS), may regulate selective LPS-induced macrophage functions involved in host defense and inflammation. But in some inflammatory responses, may negatively regulate NF-kappa-B-induced genes, through IL1A-dependent induction of NF-kappa-B inhibitor alpha (NFKBIA/IKBA). Upon stimulation with 12-O-tetradecanoylphorbol-13-acetate (TPA), phosphorylates EIF4G1, which modulates EIF4G1 binding to MKNK1 and may be involved in the regulation of EIF4E phosphorylation. Phosphorylates KIT, leading to inhibition of KIT activity. Phosphorylates ATF2 which promotes cooperation between ATF2 and JUN, activating transcription. Phosphorylates SOCS2 at 'Ser-52' facilitating its ubiquitination and proteasomal degradation (By similarity). Phosphorylates KLHL3 in response to angiotensin II signaling, decreasing the interaction between KLHL3 and WNK4 (PubMed:25313067). Phosphorylates and activates LRRK1, which phosphorylates RAB proteins involved in intracellular trafficking (PubMed:36040231)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Cav-1 regulates the bile salt export pump on the canalicular membrane of hepatocytes by PKCalpha-associated signalling under cholesterol stimulation., [RefSeq, PubMed]; Multi-modal mechanisms of the metastasis suppressor, NDRG1: Inhibition of WNT/beta-catenin signaling by stabilization of protein kinase Calpha., [RefSeq, PubMed]; PKCalpha Induced the Generation of Extracellular Vesicles in Activated Platelets to Promote Breast Cancer Metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]., [RefSeq]; Repeated stress to the skin amplifies neutrophil infiltration in a keratin 17- and PKCalpha-dependent manner. 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": 21, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 15, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B5BU22;Q15137;Q32M72;Q96RE4", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.4.24.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.17", "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": "2.7.11.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.15", "type": "external" }, { "id": "2.7.11.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.16", "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": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "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": "2.7.1.91", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.91", "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:0005178 integrin binding;GO:0005524 ATP binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0001525 angiogenesis;GO:0006468 protein phosphorylation;GO:0007077 mitotic nuclear membrane disassembly;GO:0007155 cell adhesion;GO:0007611 learning or memory", "synthesized_glycan_count": 0, "hit_score": 42.8, "record_id": "P17252-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y266-1", "uniprot_id": [ { "id": "NUDC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y266", "type": "external" } ], "mass": 38243.0, "length": 331, "protein_name": "Nuclear migration protein nudC", "gene_name": "NUDC", "organism": "Human", "refseq_name": "nuclear migration protein nudC", "refseq_ac": [ { "id": "NP_006591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006591", "type": "external" } ], "gene_names_uniprotkb": "NUDC", "gene_names_refseq": "HNUDC; MNUDC; NPD011; NUDC", "protein_names_uniprotkb": "Nuclear migration protein nudC; Nuclear distribution protein C homolog", "protein_names_refseq": "nuclear distribution C homolog; nuclear distribution gene C homolog; nuclear distribution protein C homolog; nuclear migration protein nudC; nudC nuclear distribution protein", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:10726); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025); (R-HSA-9696270)", "pathway_count": 9, "publication_count": 192, "publication_id_list": "10210332;10411507;10453739;10600384;10664463;10678165;10958683;11081627;11181178;11230166;11237011;11371342;11509732;11535616;11804586;11940653;12006501;12194817;12244061;12429848;12577064;12679384;12732141;12805219;12842009;12852857;14730319;14732713;15006353;15085137;15339662;15507212;15723797;15737063;15738000;15864301;15866170;15944396;16292343;16439214;16481321;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17081983;17112726;17113138;17129783;17196341;17198702;17287340;17322306;1737036;18001770;18097444;18669648;18716626;18923426;18991276;18996843;19136556;19350017;19413330;19608861;19651622;19696148;19815554;19965387;20030946;20068231;20101212;20591975;20811643;20934997;21111234;21148482;21397845;21406692;21576392;21868368;21878504;21987589;22094460;22159412;22275430;22544926;22608513;22790947;22885700;23186163;23222643;23301498;23801653;24366607;24397554;24690281;24714562;24715725;24914801;25418920;25505266;25576301;25740311;25789526;25880248;25888806;26154972;26728094;26811146;26929215;26969432;26992070;27074040;27600516;27846572;27862975;27920218;28218747;28832583;28834231;28904123;29242379;29317506;29493099;29557506;29786170;30192525;30315122;30410026;30429286;30484775;30779550;30833945;31020640;31154438;31222486;31409757;31530632;31844290;31848261;31871319;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34060350;34078123;34087483;34171305;34229054;34260926;34357683;34509645;34932366;35051231;35063133;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38665916;40914422;9649308;9649503;9892021", "class_list": "", "function": "Functions in mitosis and cytokinesis, in part by regulating microtubule organization at the midzone and midbody, [RefSeq, PubMed]; NudC guides client transfer between the Hsp40/70 and Hsp90 chaperone systems., [RefSeq, PubMed]; PLK1 phosphorylation of NudC plays an essential role in cytokinesis., [RefSeq, PubMed]; Plays a role in neurogenesis and neuronal migration (By similarity). Necessary for correct formation of mitotic spindles and chromosome separation during mitosis (PubMed:12679384, PubMed:12852857, PubMed:25789526). Necessary for cytokinesis and cell proliferation (PubMed:12679384, PubMed:12852857)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a nuclear distribution protein that plays an essential role in mitosis and cytokinesis. The encoded protein is involved in spindle formation during mitosis and in microtubule organization during cytokinesis. Pseudogenes of this gene are found on chromosome 2. [provided by RefSeq, Feb 2012]., [RefSeq]; Transcriptome Analysis and the Prognostic Role of NUDC in Diffuse and Intestinal 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": 16, "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": "Q5QP31;Q5QP35;Q9H0N2;Q9Y2B6", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005829 cytosol;GO:0005874 microtubule", "go_biological_process": "GO:0051301 cell division;GO:0006457 protein folding;GO:0007080 mitotic metaphase chromosome alignment;GO:0043434 response to peptide hormone;GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "Q9Y266-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15055-1", "uniprot_id": [ { "id": "PER2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15055", "type": "external" } ], "mass": 136579.0, "length": 1255, "protein_name": "Period circadian protein homolog 2", "gene_name": "PER2", "organism": "Human", "refseq_name": "period circadian protein homolog 2", "refseq_ac": [ { "id": "NP_073728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073728", "type": "external" } ], "gene_names_uniprotkb": "PER2; KIAA0347", "gene_names_refseq": "FASPS1; FASPS; PER2", "protein_names_uniprotkb": "Period circadian protein homolog 2; Circadian clock protein PERIOD 2; hPER2", "protein_names_refseq": "circadian clock protein PERIOD 2; hPER2; period 2; period circadian clock 2; period circadian protein 2; period circadian protein homolog 2; period homolog 2", "tax_id": 9606, "disease": "advanced sleep phase syndrome (Disease Ontology:DOID:0050628); fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); advanced sleep phase syndrome 1 (Disease Ontology:DOID:0110011); alcohol use disorder (Disease Ontology:DOID:1574); cocaine dependence (Disease Ontology:DOID:9975)", "pathway": " (hsa:8864); (R-HSA-9931510); (R-HSA-9931521); (R-HSA-9931530); (R-HSA-9932298)", "pathway_count": 5, "publication_count": 78, "publication_id_list": "10790862;10857746;11165242;11232563;11237011;14750904;15800623;15917222;16097765;16959974;17218255;17994337;18317514;19491384;1971514;19805222;21324900;22274616;23303907;23395175;23452856;23481700;23916625;24202686;25418920;25576301;25880248;26811146;26992070;28218747;28228285;28832583;28904123;29393594;29437277;29508533;29557506;29632046;29632711;29784789;29786170;30315122;30379171;30429286;30530698;30779550;31138685;31154438;31217245;31530632;31844290;31848261;31998317;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33717175;33912179;34087483;34171305;35051231;35580925;36215666;37217939;37938771;38221535;38695651;38777144;38805270;9349507;9427249", "class_list": "", "function": "Hierarchical and scaffolded phosphorylation of two degrons controls PER2 stability., [RefSeq, PubMed]; Importance of Per2 in cardiac mitochondrial protection during stress. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation of DNA-binding domains of CLOCK-BMAL1 complex for PER-dependent inhibition in circadian clock of mammalian cells., [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 may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]., [RefSeq]; Transcriptional repressor which forms 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 syndrome 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 NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. PER1 and PER2 proteins transport CRY1 and CRY2 into the nucleus with appropriate circadian timing, but also contribute directly to repression of clock-controlled target genes through interaction with several classes of RNA-binding proteins, helicases and others transcriptional repressors. PER appears to regulate circadian control of transcription by at least three different modes. First, interacts directly with the CLOCK-BMAL1 at the tail end of the nascent transcript peak to recruit complexes containing the SIN3-HDAC that remodel chromatin to repress transcription. Second, brings H3K9 methyltransferases such as SUV39H1 and SUV39H2 to the E-box elements of the circadian target genes, like PER2 itself or PER1. The recruitment of each repressive modifier to the DNA seems to be very precisely temporally orchestrated by the large PER complex, the deacetylases acting before than the methyltransferases. Additionally, large PER complexes are also recruited to the target genes 3' termination site through interactions with RNA-binding proteins and helicases that may play a role in transcription termination to regulate transcription independently of CLOCK-BMAL1 interactions. Recruitment of large PER complexes to the elongating polymerase at PER and CRY termination sites inhibited SETX action, impeding RNA polymerase II release and thereby repressing transcriptional reinitiation. May propagate clock information to metabolic pathways via the interaction with nuclear receptors. Coactivator of PPARA and corepressor of NR1D1, binds rhythmically at the promoter of nuclear receptors target genes like BMAL1 or G6PC1. Directly and specifically represses PPARG proadipogenic activity by blocking PPARG recruitment to target promoters and thereby inhibiting transcriptional activation. Required for fatty acid and lipid metabolism, is involved as well in the regulation of circulating insulin levels. Plays an important role in the maintenance of cardiovascular functions through the regulation of NO and vasodilatatory prostaglandins production in aortas. Controls circadian glutamate uptake in synaptic vesicles through the regulation of VGLUT1 expression. May also be involved in the regulation of inflammatory processes. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1 and ATF4. Negatively regulates the formation of the TIMELESS-CRY1 complex by competing with TIMELESS for binding to CRY1., [UniProtKB, UniProtKB]; 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": 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": 20, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A2I2P7;Q4ZG49;Q6DT41;Q9UQ45", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0000976 transcription cis-regulatory region binding;GO:0001222 transcription corepressor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070345 negative regulation of fat cell proliferation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0002931 response to ischemia;GO:0003407 neural retina development;GO:0006338 chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "O15055-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52803-1", "uniprot_id": [ { "id": "EFNA5_HUMAN", "url": "https://www.uniprot.org/uniprot/P52803", "type": "external" } ], "mass": 26297.0, "length": 228, "protein_name": "Ephrin-A5", "gene_name": "EFNA5", "organism": "Human", "refseq_name": "ephrin-A5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001953", "type": "external" } ], "gene_names_uniprotkb": "EFNA5; EPLG7; LERK7", "gene_names_refseq": "AF1; EFL5; EFNA5; EPLG7; GLC1M; LERK7; RAGS", "protein_names_uniprotkb": "Ephrin-A5; AL-1; EPH-related receptor tyrosine kinase ligand 7; LERK-7", "protein_names_refseq": "AL-1; LERK-7; eph-related receptor tyrosine kinase ligand 7; ephrin-A5 isoform 1 precursor", "tax_id": 9606, "disease": "anencephaly (Disease Ontology:DOID:0060668)", "pathway": " (hsa:1946); (R-HSA-2682334); (R-HSA-3928663); (R-HSA-3928665)", "pathway_count": 4, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;10601038;10769020;10848605;11179879;11237011;11448999;11780069;11870224;12084815;12495863;12973357;15351694;15848799;15848800;16239146;16511561;17322526;17400922;17428795;17928214;18713744;19525919;20496116;23090970;23481700;24190977;24715725;25418920;25576301;25645385;26791533;26992070;28218747;28834231;29508533;29557506;29741879;29786170;30315122;32157095;32502341;32938616;33141586;33298915;33389678;33893375;34171305;37074911;7748564;9245480;9499402", "class_list": "", "function": "Aggressive and recurrent ovarian cancers upregulate ephrinA5, a non-canonical effector of EphA2 signaling duality. Publication Status: Online-Only, [RefSeq, PubMed]; Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Induces compartmentalized signaling within a caveolae-like membrane microdomain when bound to the extracellular domain of its cognate receptor. This signaling event requires the activity of the Fyn tyrosine kinase. Activates the EPHA3 receptor to regulate cell-cell adhesion and cytoskeletal organization. With the receptor EPHA2 may regulate lens fiber cells shape and interactions and be important for lens transparency maintenance. May function actively to stimulate axon fasciculation. The interaction of EFNA5 with EPHA5 also mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion. Cognate/functional ligand for EPHA7, their interaction regulates brain development modulating cell-cell adhesion and repulsion., [UniProtKB, PubMed, PubMed]; Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]., [RefSeq]; PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth via regulating EFNA5., [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": 1, "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": 12, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 11, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0046875 ephrin receptor binding;GO:0045499 chemorepellent activity;GO:0030297 transmembrane receptor protein tyrosine kinase activator activity;GO:0048018 receptor ligand activity;GO:0005168 neurotrophin TRKA receptor binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0005912 adherens junction;GO:0009897 external side of plasma membrane;GO:0005901 caveola", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0032956 regulation of actin cytoskeleton organization;GO:0048013 ephrin receptor signaling pathway;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "P52803-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UM19-1", "uniprot_id": [ { "id": "HPCL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UM19", "type": "external" } ], "mass": 22202.0, "length": 191, "protein_name": "Hippocalcin-like protein 4", "gene_name": "HPCAL4", "organism": "Human", "refseq_name": "hippocalcin-like protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001269325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269325", "type": "external" } ], "gene_names_uniprotkb": "HPCAL4", "gene_names_refseq": "HLP4; HPCAL4", "protein_names_uniprotkb": "Hippocalcin-like protein 4; HLP4", "protein_names_refseq": "hippocalcin-like protein 4 isoform 1; hippocalcin-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:51440)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10520747;11230166;26154972;29557506;32357974;33912179;35051231", "class_list": "", "function": "May be involved in the calcium-dependent regulation of rhodopsin phosphorylation., [UniProtKB]; The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has similarity to rat neural visinin-like Ca2+-binding protein-type 1 and 2 proteins. This encoded protein may be involved in the calcium-dependent regulation of rhodopsin phosphorylation. The transcript of this gene has multiple polyadenylation sites. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 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": "B2R5U2;D3DPU1;Q5TG97;Q8N611", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0005246 calcium channel regulator activity;GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "GO:0007417 central nervous system development;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UM19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54760-1", "uniprot_id": [ { "id": "EPHB4_HUMAN", "url": "https://www.uniprot.org/uniprot/P54760", "type": "external" } ], "mass": 108270.0, "length": 987, "protein_name": "Ephrin type-B receptor 4", "gene_name": "EPHB4", "organism": "Human", "refseq_name": "ephrin type-B receptor 4 precursor", "refseq_ac": [ { "id": "NP_004435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004435", "type": "external" } ], "gene_names_uniprotkb": "EPHB4; HTK; MYK1; TYRO11", "gene_names_refseq": "CMAVM2; EPHB4; HFASD; HTK; LMPHM7; MYK1; TYRO11", "protein_names_uniprotkb": "Ephrin type-B receptor 4; 2.7.10.1; Hepatoma transmembrane kinase; Tyrosine-protein kinase TYRO11", "protein_names_refseq": "ephrin receptor EphB4; ephrin type-B receptor 4 precursor; ephrin type-B receptor 4; hepatoma transmembrane kinase; tyrosine-protein kinase TYRO11; tyrosine-protein kinase receptor HTK", "tax_id": 9606, "disease": "ductal carcinoma in situ (Disease Ontology:DOID:0060074); central conducting lymphatic anomaly (Disease Ontology:DOID:0081030); prostate carcinoma (Disease Ontology:DOID:10286); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); dilated cardiomyopathy (Disease Ontology:DOID:12930); alcohol use disorder (Disease Ontology:DOID:1574); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); hemangiopericytoma (Disease Ontology:DOID:264); endometrial carcinoma (Disease Ontology:DOID:2871); cystic kidney disease (Disease Ontology:DOID:2975); high grade glioma (Disease Ontology:DOID:3070); ischemia (Disease Ontology:DOID:326); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); chordoid glioma (Disease Ontology:DOID:3774); ovarian carcinoma (Disease Ontology:DOID:4001); large cell carcinoma (Disease Ontology:DOID:4552); congestive heart failure (Disease Ontology:DOID:6000); lymphatic system disease (Disease Ontology:DOID:75); capillary malformation-arteriovenous malformation 2 (MONDO:MONDO:0020785)", "pathway": " (hsa:2050); (R-HSA-2682334); (R-HSA-3928662); (R-HSA-3928664); (R-HSA-3928665)", "pathway_count": 5, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;10047984;10219243;10848605;10995436;11058585;11134074;11239002;11448999;11557983;11580899;11747816;11780069;11804587;11983165;12084815;12495863;12546821;12676796;12695502;12702722;12734395;12973357;14988728;15351694;15378065;15548136;15721239;15800193;15848800;16298995;16424904;16472751;16511561;16867992;17016520;17310244;17322526;17344846;17389395;17428795;17440041;17548511;17928214;18578522;18593464;18669648;18691976;18713744;19369195;19413330;19525919;19553453;19915143;20068231;20496116;2201922;23090970;23186163;23481700;24190977;24275569;26992070;27400125;28687708;28730721;29242379;29393594;29444212;29557506;29741879;30578106;31270394;31611695;31844290;32157095;32350084;32387766;32938616;33592498;33968037;34171305;34357683;34431498;35051231;35251023;35318648;36010968;36284347;37074911;37507023;37909437;38150042;38151336;7478585;8188704;9499402", "class_list": "", "function": "Biological Significance of EphB4 Expression in Cancer. Review article, [RefSeq, PubMed]; Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology. Publication Status: Online-Only, [RefSeq, PubMed]; Diverse p120RasGAP interactions with doubly phosphorylated partners EphB4, p190RhoGAP, and Dok1., [RefSeq, PubMed]; Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]., [RefSeq]; Receptor tyrosine kinase which binds promiscuously to transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Together with its cognate ligand/functional ligand EFNB2, it is involved in the regulation of cell adhesion and migration, and plays a central role in heart morphogenesis, angiogenesis and blood vessel remodeling and permeability. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. Phosphorylates inactive tyrosine-protein kinase EPHB6 which promotes interaction of EPHB6 with SH2 domains, allowing it to recruit SH2 domain-containing signaling adapters (PubMed:34431498)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology. Erratum:[Clin Genet. 2024 Nov;106(5):664. doi: 10.1111/cge.14597. PMID: 39073083], [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": 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": 13, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 10, "disease_count": 21, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B5A970;B5A971;B5A972;Q7Z635;Q9BTA5;Q9BXP0", "ec_number_list": [ { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "2.7.10.2", "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": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.4.24.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.24", "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": "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": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004714 transmembrane receptor protein tyrosine kinase activity;GO:0005003 ephrin receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0048013 ephrin receptor signaling pathway;GO:0003007 heart morphogenesis;GO:0002042 cell migration involved in sprouting angiogenesis", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "P54760-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31276-1", "uniprot_id": [ { "id": "HXC13_HUMAN", "url": "https://www.uniprot.org/uniprot/P31276", "type": "external" } ], "mass": 35379.0, "length": 330, "protein_name": "Homeobox protein Hox-C13", "gene_name": "HOXC13", "organism": "Human", "refseq_name": "homeobox protein Hox-C13", "refseq_ac": [ { "id": "NP_059106", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059106", "type": "external" } ], "gene_names_uniprotkb": "HOXC13; HOX3G", "gene_names_refseq": "ECTD9; HOX3G; HOX3; HOXC13", "protein_names_uniprotkb": "Homeobox protein Hox-C13; Homeobox protein Hox-3G", "protein_names_refseq": "NUP98/HOXC13; homeo box 3G; homeobox protein Hox-3G; homeobox protein Hox-C13", "tax_id": 9606, "disease": "ectodermal dysplasia 9 (Disease Ontology:DOID:0111656)", "pathway": " (hsa:3229)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10835276;23063621;2574852;28297138;29557506;30779550;32938616;34171305;34309767;34763232;35051231;35318648;36029503;36833285;38057852", "class_list": "", "function": "HOXC13 promotes cervical cancer proliferation, invasion and Warburg effect through beta-catenin/c-Myc signaling pathway., [RefSeq, PubMed]; HOXC6/8/10/13 predict poor prognosis and associate with immune infiltrations in glioblastoma., [RefSeq, PubMed]; LncRNA HOXC-AS5 Affects the Proliferation, Invasion and Cell Cycle of Ameloblastoma Cells by Acting on the Target Gene HOXC13. Publication Status: Online-Only, [RefSeq, PubMed]; Silencing HOXC13 exerts anti-prostate cancer effects by inducing DNA damage and activating cGAS/STING/IRF3 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the development of hair, nail, and filiform papilla. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity)., [UniProtKB]; Variants Identified in the HOXC13 and HOXD13 Genes Suggest Association with Cervical Cancer in a Cohort of Mexican Women. 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5BL02;Q96J32;Q9NR24;Q9NYD5", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;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:0000785 chromatin", "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:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "P31276-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4Y2-1", "uniprot_id": [ { "id": "EFC4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4Y2", "type": "external" } ], "mass": 44956.0, "length": 399, "protein_name": "EF-hand calcium-binding domain-containing protein 4A", "gene_name": "CRACR2B", "organism": "Human", "refseq_name": "EF-hand calcium-binding domain-containing protein 4A isoform 1", "refseq_ac": [ { "id": "NP_001273535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273535", "type": "external" } ], "gene_names_uniprotkb": "CRACR2B; EFCAB4A", "gene_names_refseq": "CRACR2B; EFCAB4A", "protein_names_uniprotkb": "EF-hand calcium-binding domain-containing protein 4A; CRAC channel regulator 2B; Calcium release-activated calcium channel regulator 2B; Calcium release-activated channel regulator 2B", "protein_names_refseq": "CRAC channel regulator 2B; CRAC regulator 2B; Ca2+ release-activated Ca2+ (CRAC) channel regulator 2B; EF-hand calcium binding domain 4A; EF-hand calcium-binding domain-containing protein 4A isoform 1; EF-hand calcium-binding domain-containing protein 4A; calcium release-activated calcium channel regulator 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:283229)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;20418871;23186163;29557506;31844290;32157095;35051231;35318648;35580925", "class_list": "", "function": "Plays a role in store-operated Ca(2+) entry (SOCE)., [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "D5LPR2;Q8NBW8", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "GO:0002115 store-operated calcium entry", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N4Y2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92781-1", "uniprot_id": [ { "id": "RDH5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92781", "type": "external" } ], "mass": 34979.0, "length": 318, "protein_name": "Retinol dehydrogenase 5", "gene_name": "RDH5", "organism": "Human", "refseq_name": "retinol dehydrogenase 5", "refseq_ac": [ { "id": "NP_001186700", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186700", "type": "external" } ], "gene_names_uniprotkb": "RDH5; HSD17B9; RDH1; SDR9C5", "gene_names_refseq": "9cRDH; HSD17B9; RDH1; RDH5; SDR9C5", "protein_names_uniprotkb": "Retinol dehydrogenase 5; 1.1.1.209; 1.1.1.315; 1.1.1.53; 11-cis RDH; 11-cis RoDH; 11-cis retinol dehydrogenase; 9-cis retinol dehydrogenase; 9cRDH; Short chain dehydrogenase/reductase family 9C member 5", "protein_names_refseq": "11-cis RDH; 11-cis RoDH; 9-cis retinol dehydrogenase; 9-cis-retinol specific dehydrogenase; retinol dehydrogenase 1; retinol dehydrogenase 5 (11-cis and 9-cis); retinol dehydrogenase 5 (11-cis/9-cis); retinol dehydrogenase 5; short chain dehydrogenase/reductase family 9C member 5", "tax_id": 9606, "disease": "fundus albipunctatus (Disease Ontology:DOID:11105); night blindness (Disease Ontology:DOID:8499)", "pathway": " (hsa:5959); (R-HSA-2453902); (R-HSA-5365859); (R-HSA-9918438)", "pathway_count": 4, "publication_count": 85, "publication_id_list": "10075733;10329026;10369264;10588954;10617778;10753906;10839978;11007799;11053295;11053296;11078852;11123914;11153648;11237011;11245473;11274389;11470705;11675386;12036956;12177057;12226107;12407145;12680773;12788147;12967826;14532297;14596915;15314061;15471866;15865448;17255476;18039331;18805086;1889753;19027726;19049981;1925597;19309693;20192770;20801113;21493626;21529158;21621639;21774515;21851338;22019272;22665496;22736946;2303470;23220587;24603341;2542268;25820994;28418496;2935875;29541409;29557506;3013304;31154438;3170584;31844290;32232344;32788868;34115091;35051231;35148716;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8493914;8884265;9115228;9228021;9490294;9541407;9677409;9703434;9705317;9920938;9931293", "class_list": "", "function": "Catalyzes the oxidation of cis-isomers of retinol, including 11-cis-, 9-cis-, and 13-cis-retinol in an NAD-dependent manner (PubMed:10588954, PubMed:11675386, PubMed:9115228, PubMed:9931293). Has no activity towards all-trans retinal (By similarity). Plays a significant role in 11-cis retinol oxidation in the retinal pigment epithelium cells (RPE). Also recognizes steroids (androsterone, androstanediol) as its substrates (PubMed:29541409, PubMed:9931293)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Multimodal imaging and electroretinography of RDH5-related fundus albipunctatus (FAP) revealed high frequencies of macular involvement in older patients and decreased cone responses., [RefSeq, PubMed]; Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus. Publication Status: Online-Only, [RefSeq, PubMed]; Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium., [RefSeq, PubMed]; This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "O00179;Q8TAI2", "ec_number_list": [ { "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": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.225", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.1", "type": "external" }, { "id": "1.1.1.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.66", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" } ], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0047023 androsterone dehydrogenase [NAD(P)+] activity;GO:0047044 androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity;GO:0106429 11-cis-retinol dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane;GO:0044297 cell body", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0042572 retinol metabolic process;GO:0007601 visual perception;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q92781-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96IC2-1", "uniprot_id": [ { "id": "REXO5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96IC2", "type": "external" } ], "mass": 86886.0, "length": 774, "protein_name": "RNA exonuclease 5", "gene_name": "REXO5", "organism": "Human", "refseq_name": "RNA exonuclease 5 isoform 2", "refseq_ac": [ { "id": "NP_001138396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138396", "type": "external" } ], "gene_names_uniprotkb": "REXO5; 44M2.3", "gene_names_refseq": "NEF-sp; REXO5", "protein_names_uniprotkb": "RNA exonuclease 5; 3.1.-.-; Exonuclease NEF-sp", "protein_names_refseq": "RNA exonuclease 5 isoform 2; putative RNA exonuclease NEF-sp", "tax_id": 9606, "disease": "", "pathway": " (hsa:81691)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11230166;11237011;23481700;24366607;24715725;25576301;25645385;25892735;26992070;27846572;27920218;28218747;28228285;28832583;28904123;29393594;29437277;29557506;29632046;29769354;30315122;30379171;31844290;32357974;32387766;32488085;33298915;34509645", "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": "B2RB19;O60364;Q96MB1;Q9BXH9;Q9H0K2;Q9NSM2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0004527 exonuclease activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0070062 extracellular exosome", "go_biological_process": "GO:0031125 rRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96IC2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNZ5-1", "uniprot_id": [ { "id": "L10K_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNZ5", "type": "external" } ], "mass": 10577.0, "length": 99, "protein_name": "Leydig cell tumor 10 kDa protein homolog", "gene_name": "C19orf53", "organism": "Human", "refseq_name": "leydig cell tumor 10 kDa protein homolog", "refseq_ac": [ { "id": "NP_054766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054766", "type": "external" } ], "gene_names_uniprotkb": "C19orf53; HSPC023", "gene_names_refseq": "C19orf53; HSPC023; Hero11; L10K; LYDG10", "protein_names_uniprotkb": "Leydig cell tumor 10 kDa protein homolog", "protein_names_refseq": "leydig cell tumor 10 kDa protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:28974)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;18446792;22544926;23481700;24366607;24714562;24715725;25576301;26154972;26754738;26992070;27846572;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;29789417;30484775;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34185709;34433824;34509645;35051231;35251023;35318648;35580925;36010968;36284347;37217939;39117455", "class_list": "", "function": "DNAJA2 and Hero11 mediate similar conformational extension and aggregation suppression of TDP-43. Publication Status: Online-Only, [RefSeq, PubMed]; May have a potential role in hypercalcemia of malignancy., [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": 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": "B2R4J9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9UNZ5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18621-1", "uniprot_id": [ { "id": "RL17_HUMAN", "url": "https://www.uniprot.org/uniprot/P18621", "type": "external" } ], "mass": 21397.0, "length": 184, "protein_name": "Large ribosomal subunit protein uL22", "gene_name": "RPL17", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL22 isoform a", "refseq_ac": [ { "id": "NP_000976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000976", "type": "external" } ], "gene_names_uniprotkb": "RPL17", "gene_names_refseq": "DBA22; L17; PD-1; RPL17; RPL23; uL22", "protein_names_uniprotkb": "Large ribosomal subunit protein uL22; 60S ribosomal protein L17; 60S ribosomal protein L23; PD-1", "protein_names_refseq": "60S ribosomal protein L17; 60S ribosomal protein L23; gene encoding putative NFkB activating protein; large ribosomal subunit protein uL22 isoform a; large ribosomal subunit protein uL22", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 22 (MONDO:MONDO:0979244)", "pathway": " (hsa:6139); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 273, "publication_id_list": "10358005;10380706;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;1793733;18065403;18066079;18166647;18230761;18256688;18285520;18369606;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18691976;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22121020;22190735;22195017;22645359;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;2402465;24366607;24424021;24524803;24550520;24715725;25132172;25242263;25418920;25469497;25502872;25525153;25576301;25578875;25645385;25802875;25969445;26024233;26154972;26237581;26375851;26811146;26929215;26992070;27526673;27600516;27846572;27920218;28063628;28065601;28132843;28228285;28467828;28685749;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29786170;30103068;30244831;30293783;30315122;30410026;30484775;30779550;30804176;31011209;31020640;31217245;31611695;31844290;32099016;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32669547;32897882;32938616;32983136;33214551;33298915;33392160;33406423;33537174;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34185709;34357683;34509645;34725712;34932366;35051231;35083852;35138101;35251023;35318648;35580925;36010968;36215666;36241641;36302773;37217939;37676773;37938771;38665916;39088281;39395807;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed, 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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L22P family of ribosomal proteins. It is located in the cytoplasm. This gene has been referred to as rpL23 because the encoded protein shares amino acid identity with ribosomal protein L23 from Halobacterium marismortui; however, its official symbol is RPL17. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream C18orf32 (chromosome 18 open reading frame 32) gene. [provided by RefSeq, Dec 2010]., [RefSeq]; The present study combines an individual-based phenotypic profiling with a transdiagnostic approach and shows that several ribosomal genes including RPL17 is involved in stress vulnerability across nonclinical and clinical conditions., [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": 2, "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": "B2R4H3;B4E3C2;B5ME31;J3QL51;Q3KQW2;Q6NZ54;Q7M4M5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 27.7, "record_id": "P18621-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75023-1", "uniprot_id": [ { "id": "LIRB5_HUMAN", "url": "https://www.uniprot.org/uniprot/O75023", "type": "external" } ], "mass": 64067.0, "length": 590, "protein_name": "Leukocyte immunoglobulin-like receptor subfamily B member 5", "gene_name": "LILRB5", "organism": "Human", "refseq_name": "leukocyte immunoglobulin-like receptor subfamily B member 5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001074911", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074911", "type": "external" } ], "gene_names_uniprotkb": "LILRB5; LIR8", "gene_names_refseq": "CD85C; LILRB5; LIR-8; LIR8", "protein_names_uniprotkb": "Leukocyte immunoglobulin-like receptor subfamily B member 5; CD85 antigen-like family member C; LIR-8; Leukocyte immunoglobulin-like receptor 8", "protein_names_refseq": "CD85 antigen-like family member C; leucocyte Ig-like receptor B5; leukocyte immunoglobulin like receptor B5 long splicing isoform; leukocyte immunoglobulin like receptor B5 short splicing isoform; leukocyte immunoglobulin-like receptor 8; leukocyte immunoglobulin-like receptor subfamily B member 5 isoform 1 precursor; leukocyte immunoglobulin-like receptor subfamily B member 5; leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:10990); (R-HSA-198933)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16335952;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;17998301;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20166139;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24275569;24305946;25214527;25703557;25716998;26098415;26284469;26300885;26908331;30459171;37074911;38807600;7531291;7542404;8178173;8995416;9285412;9314561;9548455;9700512;9730896", "class_list": "", "function": "Identification of the hybrid gene LILRB5-3 by long-read sequencing and implication of its novel signaling function. Publication Status: Online-Only, [RefSeq, PubMed]; LILRB5 binding to intracellular HLA-class I heavy chains suggests a chaperone function Publication Status: Online-Only, [RefSeq, PubMed]; Mature cord-blood-derived mast cells expressed LILRB5 in cytoplasmic granules and upon cross-linking of the high-affinity IgE receptor, released LILRB5 into the culture medium., [RefSeq, PubMed]; May act as receptor for class I MHC antigens., [UniProtKB]; The rs12975366 in the LILRB5 gene was significantly associated with CK levels of statin users., [RefSeq, PubMed]; The transcriptional profile of the orphan receptor LILRB5 is significantly up-regulated following exposure to mycobacteria. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). Several other LIR subfamily B receptors are expressed on immune cells where they bind to MHC class I molecules on antigen-presenting cells and inhibit stimulation of an immune response. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "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": 2, "reported_o_glycosites": 1, "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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q8N760", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0032396 inhibitory MHC class I receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006952 defense response;GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:0019221 cytokine-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "O75023-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5PLK6-1", "uniprot_id": [ { "id": "RGSL_HUMAN", "url": "https://www.uniprot.org/uniprot/A5PLK6", "type": "external" } ], "mass": 125688.0, "length": 1076, "protein_name": "Regulator of G protein signaling protein-like", "gene_name": "RGSL1", "organism": "Human", "refseq_name": "regulator of G-protein signaling protein-like isoform 1", "refseq_ac": [ { "id": "NP_001131141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131141", "type": "external" } ], "gene_names_uniprotkb": "RGSL1; RGSL2; RGSL", "gene_names_refseq": "RGSL1; RGSL2; RGSL", "protein_names_uniprotkb": "Regulator of G protein signaling protein-like", "protein_names_refseq": "regulator of G-protein signaling like 2; regulator of G-protein signaling protein-like isoform 1; regulator of G-protein signaling protein-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:353299); (R-HSA-416476); (R-HSA-418594); (R-HSA-418597)", "pathway_count": 4, "publication_count": 49, "publication_id_list": "10191087;10567430;10727532;10861009;10954748;11007482;11015615;11230166;11237011;11313909;11742120;11753430;12120503;1347957;15951850;16182515;16268778;16339447;16634148;16754659;16923326;18434541;18515384;18521847;18577758;18936096;1905813;1939224;20574532;21135262;23248035;23481700;2534964;2748346;2834384;2841328;28502923;29557506;3086311;33141586;35051231;7559455;7595566;7937899;8015379;8406495;8664309;9305846;9770463", "class_list": "", "function": "A detailed mapping of the breakpoints revealed intragenic microdeletions affecting the coding regions of RGSL2, RGSL1., [RefSeq, PubMed]; Data indicate that multiplex ligation-dependent probe amplification (MLPA) probes (Fig. 2) corresponding to the RGSL2, RGSL1 and RGS16 genes showed 64.5 % tumour samples with copy number gains and 5 % tumour samples with copy number losses., [RefSeq, PubMed]; Missense mutations in RGSL1 gene is associated with breast cancer., [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": 0, "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": "A2A2Z0;A6PVM2;A6PVM3;Q0VAJ4;Q0VAJ5;Q6ZRL0;Q86UV0;Q9H084", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "A5PLK6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5J4-1", "uniprot_id": [ { "id": "ELOV6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5J4", "type": "external" } ], "mass": 31376.0, "length": 265, "protein_name": "Very long chain fatty acid elongase 6", "gene_name": "ELOVL6", "organism": "Human", "refseq_name": "very long chain fatty acid elongase 6", "refseq_ac": [ { "id": "NP_001124193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124193", "type": "external" } ], "gene_names_uniprotkb": "ELOVL6; FACE; LCE", "gene_names_refseq": "ELOVL6; FACE; FAE; LCE; hELO2", "protein_names_uniprotkb": "Very long chain fatty acid elongase 6; 2.3.1.199; 3-keto acyl-CoA synthase ELOVL6; ELOVL FA elongase 6; ELOVL fatty acid elongase 6; Elongation of very long chain fatty acids protein 6; Fatty acid elongase 2; Fatty acyl-CoA elongase; Long-chain fatty-acyl elongase; Very long chain 3-ketoacyl-CoA synthase 6; Very long chain 3-oxoacyl-CoA synthase 6; hELO2", "protein_names_refseq": "3-keto acyl-CoA synthase ELOVL6; ELOVL FA elongase 6; ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast); elongation of very long chain fatty acids protein 6; fatty acid elongase 2; fatty acyl-CoA elongase; long-chain fatty-acyl elongase; very long chain 3-ketoacyl-CoA synthase 6; very long chain 3-oxoacyl-CoA synthase 6; very long chain fatty acid elongase 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:79071); (R-HSA-2426168); (R-HSA-75876)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;10400691;10548543;10759542;10954726;11237011;11414710;11889465;12083769;12177166;12371743;12482854;12525535;12764144;12975357;1377680;15469937;16036915;16371355;17379924;17449569;17681178;17762044;17925399;18003621;18554506;18559965;18654640;18660489;18682402;18726356;18728184;19259639;19505953;19575253;1968462;19826053;20138239;20332099;20450493;20719759;20937905;21959040;22634312;25003994;25892735;26214738;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29437277;29493099;29508533;29557506;29769354;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31844290;31848261;31956234;32157095;32357974;32502341;32897882;32938616;33592498;33691108;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34357683;34932366;35051231;35580925;36010968;37682172;37938771;38426809;7567999;7592729;7732023;7909540;8020941;8075637;8619637;8626466;8626488;8647822;8663599;8798690;8976377;9099716;9604010;9634533;9748295", "class_list": "glycogene", "function": "33 ELOVL6 mutations were found with a new variant in the promoter region, though no mutation in the coding region was found. However no mutations were found that largely deviated in allele frequency as compared with healthy Japanese individuals., [RefSeq, PubMed]; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that elongates fatty acids with 12, 14 and 16 carbons with higher activity toward C16:0 acyl-CoAs. Catalyzes the synthesis of unsaturated C16 long chain fatty acids and, to a lesser extent, C18:0 and those with low desaturation degree. May participate in the production of saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators., [UniProtKB, PubMed, HAMAP, PubMed, PubMed, PubMed]; ELOVL6 is associated with immunosuppression in lung adenocarcinoma through bioinformatics analysis., [RefSeq, PubMed]; ELOVL6 promotes the progression of head and neck squamous cell carcinoma via activating WNT/beta-catenin pathway., [RefSeq, PubMed]; Fatty acid elongases (EC 6.2.1.3), such as ELOVL6, use malonyl-CoA as a 2-carbon donor in the first and rate-limiting step of fatty acid elongation (Moon et al., 2001 [PubMed 11567032]).[supplied by OMIM, Mar 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator), [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]; Studies suggest that inhibition of ELOVL6 could be a new therapeutic approach for the treatment of insulin resistance, diabetes, cardiovascular disease, and other metabolic diseases. 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": 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": 187, "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": "Q4W5L0;Q8NCD1", "ec_number_list": [ { "id": "2.3.1.199", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.199", "type": "external" } ], "go_molecular_function": "GO:0009922 fatty acid elongase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0009923 fatty acid elongase complex", "go_biological_process": "GO:0030148 sphingolipid biosynthetic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0006636 unsaturated fatty acid biosynthetic process;GO:0034625 fatty acid elongation, monounsaturated fatty acid;GO:0034626 fatty acid elongation, polyunsaturated fatty acid", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q9H5J4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZC9-1", "uniprot_id": [ { "id": "SMAL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZC9", "type": "external" } ], "mass": 105938.0, "length": 954, "protein_name": "SNF2 related chromatin remodeling annealing helicase 1", "gene_name": "SMARCAL1", "organism": "Human", "refseq_name": "SNF2 related chromatin remodeling annealing helicase 1", "refseq_ac": [ { "id": "NP_001120679", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120679", "type": "external" } ], "gene_names_uniprotkb": "SMARCAL1; HARP", "gene_names_refseq": "HARP; HHARP; SMARCAL1", "protein_names_uniprotkb": "SNF2 related chromatin remodeling annealing helicase 1; 3.6.4.-; 5.6.2.-; HepA-related protein; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; Sucrose nonfermenting protein 2-like 1; hHARP", "protein_names_refseq": "ATP-driven annealing helicase; HepA-related protein; SMARCA-like protein 1; SNF2 related chromatin remodeling annealing helicase 1; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; sucrose nonfermenting protein 2-like 1", "tax_id": 9606, "disease": "Schimke immuno-osseous dysplasia (Disease Ontology:DOID:0060490)", "pathway": " (hsa:50485)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10.1101/2023.09.13.557529;10857751;11237011;11799392;12471207;16237566;16959974;18669648;18805831;18974355;19793861;19793862;19793863;20068231;23186163;23873943;24150942;24275569;24910198;25418920;25576301;25892735;26154972;26758079;26811146;26929215;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29632046;29769354;29786170;29992770;30315122;30379171;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32897882;32938616;33141586;33298915;33392160;33592498;33717175;33912179;33968037;34103668;34509645;35051231;35209826;35318648;35580925;36010968;36241641;36689342;38416570;38697461", "class_list": "", "function": "ATP-dependent annealing helicase that binds selectively to fork DNA relative to ssDNA or dsDNA and catalyzes the rewinding of the stably unwound DNA. Rewinds single-stranded DNA bubbles that are stably bound by replication protein A (RPA). Acts throughout the genome to reanneal stably unwound DNA, performing the opposite reaction of many enzymes, such as helicases and polymerases, that unwind DNA. May play an important role in DNA damage response by acting at stalled replication forks., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells., [RefSeq, PubMed]; Cancer-associated SMARCAL1 loss-of-function mutations promote alternative lengthening of telomeres and tumorigenesis in telomerase-negative glioblastoma cells. Erratum:[Neuro Oncol. 2023 Nov 2;25(11):2105. doi: 10.1093/neuonc/noad180. PMID: 37757453], [RefSeq, PubMed]; Different Phenotypes of Schimke Immuno-Osseous Dysplasia (SIOD) in Two Sisters with the Same Mutation in the SMARCAL1 Gene., [RefSeq, PubMed]; Missense mutation in the SMARCAL1 gene is associated with mild Schimke immuno-osseous dysplasia., [RefSeq, PubMed]; Oncogenic functions and therapeutic potentials of targeted inhibition of SMARCAL1 in small cell lung cancer., [RefSeq, PubMed]; SMARCAL1 loss and alternative lengthening of telomeres (ALT) are enriched in giant cell glioblastoma., [RefSeq, PubMed]; Schimke immuno-osseous dysplasia: a patient who has survived to 20 years despite having a homozygous SMARCAL1 nonsense mutation and severe early onset disease, [RefSeq, PubMed]; The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and 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": 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": 11, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NEH0;Q53R00;Q96AY1;Q9NXQ5;Q9UFH3;Q9UI93", "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:0016887 ATP hydrolysis activity;GO:0036310 ATP-dependent DNA/DNA annealing activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break", "go_biological_process": "GO:0006281 DNA repair;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006974 DNA damage response;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0090656 t-circle formation", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9NZC9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6V9-1", "uniprot_id": [ { "id": "LDAH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6V9", "type": "external" } ], "mass": 37319.0, "length": 325, "protein_name": "Lipid droplet-associated hydrolase", "gene_name": "LDAH", "organism": "Human", "refseq_name": "lipid droplet-associated hydrolase isoform c", "refseq_ac": [ { "id": "NP_001269649", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269649", "type": "external" } ], "gene_names_uniprotkb": "LDAH; C2orf43", "gene_names_refseq": "C2orf43; LDAH; hLDAH", "protein_names_uniprotkb": "Lipid droplet-associated hydrolase; 3.1.1.13; Lipid droplet-associated serine hydrolase; hLDAH", "protein_names_refseq": "UPF0554 protein C2orf43; lipid droplet-associated hydrolase isoform c; lipid droplet-associated serine hydrolase", "tax_id": 9606, "disease": "", "pathway": " (hsa:60526)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;17135363;20676098;22662242;23481700;24357060;24714562;25418920;25892735;26154972;26375851;26728094;26992070;27846572;27920218;28228285;28578400;28832583;28834231;28904123;29242379;29508533;29557506;29632046;29632711;29769354;29786170;30169630;30429286;30779550;30833945;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34357683;34561969;35051231;35561310;35580925;36241641;40914422", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our results provide further support for association of the C2orf43, FOXP4, GPRC6A and RFX6 genes with prostate cancer in Eastern Asian populations, [RefSeq, PubMed]; Probable serine lipid hydrolase associated with lipid droplets (By similarity). Has low cholesterol esterase activity (By similarity). Appears to lack triglyceride lipase activity (By similarity). Involved in cholesterol and triglyceride homeostasis; has opposing effects, stimulating cellular triglyceride accumulation and cellular cholesterol release (PubMed:24357060, PubMed:28578400). Acts antagonistically with PNPLA2/ATGL in regulation of cellular lipid stores (PubMed:28578400). May regulate triglyceride accumulation indirectly through stimulation of PNPLA2/ATGL ubiquitination and proteasomal degradation (PubMed:28578400). Promotes microtubule-dependent lipid droplet fusion (PubMed:28578400). Highly expressed in macrophage-rich areas in atherosclerotic lesions, suggesting that it could promote cholesterol ester turnover in macrophages (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The data identify lipid droplet-associated serine hydrolase (LDAH) a candidate target to promote reverse cholesterol transport from atherosclerotic lesions., [RefSeq, PubMed]; We then amassed convergent genomic evidence showing population level associations between LDAHexpression and occurrence of prostate cancer . We further identified loss of LDAH in both tissues and cell lines derived from human prostate cancer, and generated Ldah-/- mouse model, which recapitulated many of the clinical findings in DGAP056. Erratum:[Hum Mol Genet. 2019 May 15;28(10):1753-1754. doi: 10.1093/hmg/ddz036. PMID: 31222336], [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": "B7ZA47;B7ZAJ5;D6W530;E7ESN0;Q53T37;Q53T58", "ec_number_list": [ { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.71", "type": "external" } ], "go_molecular_function": "GO:0004771 sterol ester esterase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0042632 cholesterol homeostasis;GO:0019915 lipid storage;GO:0034389 lipid droplet organization;GO:0035356 intracellular triglyceride homeostasis", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9H6V9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AZ1-1", "uniprot_id": [ { "id": "EFMT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AZ1", "type": "external" } ], "mass": 24911.0, "length": 226, "protein_name": "EEF1A lysine methyltransferase 3", "gene_name": "EEF1AKMT3", "organism": "Human", "refseq_name": "EEF1A lysine methyltransferase 3 isoform a", "refseq_ac": [ { "id": "NP_056248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056248", "type": "external" } ], "gene_names_uniprotkb": "EEF1AKMT3; FAM119B; HCA557A; METTL21B", "gene_names_refseq": "EEF1AKMT3; FAM119B; METTL21B", "protein_names_uniprotkb": "EEF1A lysine methyltransferase 3; 2.1.1.-; Hepatocellular carcinoma-associated antigen 557a; Methyltransferase-like protein 21B; Protein-lysine methyltransferase METTL21B; eEF1A-KMT3", "protein_names_refseq": "EEF1A lysine methyltransferase 3 isoform a; eEF1A-KMT3; family with sequence similarity 119, member B; hepatocellular carcinoma-associated antigen 557a; hepatocellularcarcinoma-associated antigen HCA557a; methyltransferase like 21B; methyltransferase-like protein 21B; protein-lysine methyltransferase METTL21B", "tax_id": 9606, "disease": "", "pathway": " (hsa:25895)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;20190274;22948820;23349634;28108655;28663172;32161166;32938616;33981976;34446611;35318648;35580925", "class_list": "", "function": "METTL21B is a prognostic biomarker and potential therapeutic target in low-grade gliomas., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protein-lysine methyltransferase that selectively mono-, di- and trimethylates 'Lys-165' of the translation elongation factors EEF1A1 and EEF1A2 in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation., [UniProtKB, PubMed, PubMed]; Results have shown that METTL21B is a protein methyltransferase that methylates both isoforms of translation elongation factor eEF1A at lysine 165. Also, further data suggests that METTL21B has an evolutionarily important role for the methylation of lysine 165 in eEF1A., [RefSeq, PubMed]; The METTL21B protein is here suggested to be a protein methyltransferase, as it is shown to belong to a family of 10 human methyltransferases, some of which are shown to have lysine specific protein methyltransferase activity., [RefSeq, PubMed]; The present study identifies METTL21B as the enzyme responsible for methylation of eEF1A on Lys-165 and shows that this modification is dynamic, inducible and likely of regulatory importance., [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": "Q9H749;Q9Y3W2", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.359", "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" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.1.1.361", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.361", "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" } ], "go_molecular_function": "GO:0031072 heat shock protein binding;GO:0008168 methyltransferase activity;GO:0016279 protein-lysine N-methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0018022 peptidyl-lysine methylation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96AZ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FE5-1", "uniprot_id": [ { "id": "LIGO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FE5", "type": "external" } ], "mass": 69876.0, "length": 620, "protein_name": "Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1", "gene_name": "LINGO1", "organism": "Human", "refseq_name": "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor", "refseq_ac": [ { "id": "NP_001288115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001288115", "type": "external" } ], "gene_names_uniprotkb": "LINGO1; LERN1; LRRN6A; PRO227", "gene_names_refseq": "LERN1; LINGO1; LRRN6A; MRT64; UNQ201", "protein_names_uniprotkb": "Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1; Leucine-rich repeat and immunoglobulin domain-containing protein 1; Leucine-rich repeat neuronal protein 1; Leucine-rich repeat neuronal protein 6A", "protein_names_refseq": "leucine rich repeat neuronal 6A; leucine-rich repeat and immunoglobulin domain-containing protein 1; leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 isoform b precursor; leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1; leucine-rich repeat neuronal protein 1", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 64 (Disease Ontology:DOID:0081225); glaucoma (Disease Ontology:DOID:1686)", "pathway": " (hsa:84894); (R-HSA-193634)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;11201742;11237011;12426574;12692556;12975309;14686891;14966521;15694321;15895088;17005555;17239012;17726113;19052207;24715725;28837161;31154438;31844290;32157095;32350084;33830473;34357683;35051231;35251023;35580925;36901909;37958608", "class_list": "", "function": "Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors (PubMed:14966521, PubMed:15694321). Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination (PubMed:15895088). Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; Genetic and Epigenetic Regulation in Lingo-1: Effects on Cognitive Function and White Matter Microstructure in a Case-Control Study for Schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; LINGO-1 shRNA protects the brain against ischemia/reperfusion injury by inhibiting the activation of NF-kappaB and JAK2/STAT3., [RefSeq, PubMed]; Nogo-A and LINGO-1: Two Important Targets for Remyelination and Regeneration. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The LERN1 expression pattern is specific to the central nervous system, highly and broadly expressed during early stages of development and gradually restricted to forebrain structures as development proceeds(LERN1), [RefSeq, PubMed]; The Lingo-1 ectodomain is a module implicated in central nervous system repair inhibition, [RefSeq, PubMed]; The ternary complex of NgR/TROY/LINGO-1 expressed on astrocytes, macrophages/microglia and neurones, by interacting with Nogo-A on oligodendrocytes, might modulate glial-neuronal interactions in demyelinating lesions of multiple sclerosis, [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": 8, "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": 8, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "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": 40, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "D3DW80;Q6NUK3;Q6UXM3;Q6VVG0;Q6VVG1;Q6VVG2;Q8N3K5;Q96K52", "ec_number_list": [], "go_molecular_function": "GO:0005154 epidermal growth factor receptor binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0048666 neuron development", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96FE5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32004-1", "uniprot_id": [ { "id": "L1CAM_HUMAN", "url": "https://www.uniprot.org/uniprot/P32004", "type": "external" } ], "mass": 140003.0, "length": 1257, "protein_name": "Neural cell adhesion molecule L1", "gene_name": "L1CAM", "organism": "Human", "refseq_name": "neural cell adhesion molecule L1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000416", "type": "external" } ], "gene_names_uniprotkb": "L1CAM; CAML1; MIC5", "gene_names_refseq": "CAML1; CD171; HSAS1; HSAS; HYCX; L1CAM; MASA; MIC5; N-CAM-L1; N-CAML1; NCAM-L1; S10; SPG1", "protein_names_uniprotkb": "Neural cell adhesion molecule L1; N-CAM-L1; NCAM-L1", "protein_names_refseq": "antigen identified by monoclonal antibody R1; neural cell adhesion molecule L1 isoform 1 precursor; neural cell adhesion molecule L1", "tax_id": 9606, "disease": "pheochromocytoma (Disease Ontology:DOID:0050771); MASA syndrome (Disease Ontology:DOID:0060246); X-linked congenital hydrocephalus (Disease Ontology:DOID:0070686); Alzheimer's disease (Disease Ontology:DOID:10652); hydrocephalus (Disease Ontology:DOID:10908); hypothyroidism (Disease Ontology:DOID:1459); depressive disorder (Disease Ontology:DOID:1596); pancreatic cancer (Disease Ontology:DOID:1793); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030); hereditary spastic paraplegia (Disease Ontology:DOID:2476); glioblastoma (Disease Ontology:DOID:3068); bipolar disorder (Disease Ontology:DOID:3312); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); uterine cancer (Disease Ontology:DOID:363); lung non-small cell carcinoma (Disease Ontology:DOID:3908); ovarian carcinoma (Disease Ontology:DOID:4001); schizophrenia (Disease Ontology:DOID:5419); colorectal cancer (Disease Ontology:DOID:9256); X-linked complicated corpus callosum dysgenesis (MONDO:MONDO:0010569)", "pathway": " (hsa:3897); (R-HSA-210991); (R-HSA-373760); (R-HSA-437239); (R-HSA-445095); (R-HSA-445144)", "pathway_count": 6, "publication_count": 153, "publication_id_list": "10.1101/2023.09.13.557529;10608864;10611478;10747093;10797421;10804209;10805190;10818153;10880960;10921872;11222639;11237011;11719518;11857550;11943775;12082080;12435569;12456642;12514225;12558975;12650797;12925712;12942088;1303258;13889294;14707126;14718570;14978216;15368500;15489334;15597056;15772651;15901826;15946952;16000162;16260747;1627459;16330023;16335952;16597699;16650080;16816908;16904324;17081983;17223356;17253643;1769655;17996943;18136715;18222703;18478542;18555990;18669648;1870106;19159218;1923824;19278660;1932117;19651622;19846429;1993895;20068231;20301657;20621658;20799950;21152083;21269460;21406692;21541352;22177953;22222883;22344793;22579729;2295682;22973895;23090970;23186163;2387585;23954936;24155914;24190977;2448316;25645385;26891472;27600516;28510447;28657654;29242379;29314611;29393594;29557506;29632711;29671580;29741879;30484775;31154438;3136168;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32502341;32938616;32983136;33214551;33592498;33968037;34019948;34078123;34092791;3460961;35051231;35083852;35251023;35561310;36215666;36241641;37074911;38901674;40596516;7493978;7562969;7762552;7881431;7920659;7920660;8062435;8388392;8401576;8509458;8556302;8592152;8663493;8929944;9118141;9195224;9268105;9279760;9286695;9300653;9360995;9396761;9452110;9479034;9521424;9651214;9721721;9744477;9832035", "class_list": "glycogene", "function": "Expression of L1 Cell Adhesion Molecule, a Nephronal Principal Cell Marker, in Nephrogenic Adenoma., [RefSeq, PubMed]; Metastasis formation upon up-regulation of full length-L1CAM correlated with increased invasive potential and elevated Matrix metalloproteinase (MMP)-2 and -9 expression and activity. Publication Status: Online-Only, [RefSeq, PubMed]; Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity., [UniProtKB, PubMed]; Results suggest that the L1CAM gene has two functionally active promoter sites that are used in a cell-type specific manner. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]., [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": 17, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 16, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 18, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 18, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 24, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1332, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 58, "disease_count": 20, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "A0AV65;A4ZYW4;B2RMU7;G3XAF4;Q8TA87", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0008046 axon guidance receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0030424 axon;GO:0030425 dendrite", "go_biological_process": "GO:0006935 chemotaxis;GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0016477 cell migration;GO:0031175 neuron projection development", "synthesized_glycan_count": 0, "hit_score": 23.1, "record_id": "P32004-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BVW5-1", "uniprot_id": [ { "id": "TIPIN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BVW5", "type": "external" } ], "mass": 34555.0, "length": 301, "protein_name": "TIMELESS-interacting protein", "gene_name": "TIPIN", "organism": "Human", "refseq_name": "TIMELESS-interacting protein isoform 2", "refseq_ac": [ { "id": "NP_001276915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276915", "type": "external" } ], "gene_names_uniprotkb": "TIPIN", "gene_names_refseq": "TIPIN", "protein_names_uniprotkb": "TIMELESS-interacting protein", "protein_names_refseq": "CSM3 homolog; TIMELESS-interacting protein isoform 2; timeless-interacting protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54962); (R-HSA-5693607)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10859164;11080452;11139606;11237011;11301010;11376695;11390642;12152085;12545175;12578958;12791985;12875843;14576433;15189136;15190204;15707391;16148040;16153896;16327781;16360315;16530042;16885023;17102137;17116885;17141802;17296725;17525332;17575048;17928296;17965729;18171670;18669648;18805091;18923075;18971343;19357644;19419957;19651622;20068231;20139726;20154705;20233725;21052091;21240188;21263215;21325134;21335604;21659603;21680713;21777809;22021381;22024395;22231403;22635276;22661229;22661230;22792074;22977173;23186163;23345434;23359676;23468639;24366607;25113031;25122754;25418920;25469497;25558984;25576301;25659039;26154972;26375851;26811146;26929215;26992070;27846572;27920218;28228285;28334766;28832583;28834231;28904123;29242379;29393594;29557506;29632046;31217245;31429579;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;33141586;33298915;33691108;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34561969;34689170;34694004;34700328;35051231;35585232;36010968;36172813;36215666;36241641;36284347;36581221;38838015;9705271", "class_list": "", "function": "Germline polymorphisms in genes maintaining the replication fork predict the efficacy of oxaliplatin and irinotecan in patients with metastatic colorectal cancer., [RefSeq, PubMed]; Observation explains the similar checkpoint phenotypes observed in both Tipin- and Timeless-depleted cells, [RefSeq, PubMed]; Plays an important role in the control of DNA replication and the maintenance of replication fork stability (PubMed:17102137, PubMed:23359676, PubMed:35585232). Important for cell survival after DNA damage or replication stress (PubMed:17116885). May be specifically required for the ATR-CHEK1 pathway in the replication checkpoint induced by hydroxyurea or ultraviolet light (PubMed:17296725). Forms a complex with TIMELESS and this complex regulates DNA replication processes under both normal and stress conditions, stabilizes replication forks and influences both CHEK1 phosphorylation and the intra-S phase checkpoint in response to genotoxic stress (PubMed:17102137, PubMed:17116885, PubMed:17296725, PubMed:23359676, PubMed:35585232)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; TIM and Tipin are functional orthologs of their replisome-associated yeast counterparts capable of coordinating replication with genotoxic stress responses, and distinguishes mammalian TIM from the circadian-specific paralogs., [RefSeq, PubMed]; The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM, which is involved in circadian rhythm regulation, and aids in protecting cells against DNA damage and stress. Two pseudogenes and two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; Tipin is a checkpoint mediator that cooperates with Tim and may regulate the nuclear relocation of Claspin in response to replication checkpoint, [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": 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": "B2CW64;Q9NWZ6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0031298 replication fork protection complex;GO:0043596 nuclear replication fork;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0033262 regulation of nuclear cell cycle DNA replication;GO:0008284 positive regulation of cell population proliferation;GO:0051301 cell division;GO:0031573 mitotic intra-S DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q9BVW5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92882-1", "uniprot_id": [ { "id": "OSTF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92882", "type": "external" } ], "mass": 23787.0, "length": 214, "protein_name": "Osteoclast-stimulating factor 1", "gene_name": "OSTF1", "organism": "Human", "refseq_name": "osteoclast-stimulating factor 1", "refseq_ac": [ { "id": "NP_036515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036515", "type": "external" } ], "gene_names_uniprotkb": "OSTF1", "gene_names_refseq": "OSF; OSTF1; SH3P2; bA235O14.1", "protein_names_uniprotkb": "Osteoclast-stimulating factor 1", "protein_names_refseq": "osteoclast-stimulating factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26578); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10092216;11551898;15135048;17081983;17287340;17322306;18088087;18318008;18452278;18669648;19413330;19415658;19651622;19664995;19690332;19807924;20058876;20068231;20166139;21406692;23650620;24275569;25576301;25880248;27846572;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29361551;29393594;29437277;29493099;29557506;29786170;30315122;31844290;32157095;32357974;32488085;32938616;32983136;33123756;33141586;33214551;33392160;33592498;33968037;33981976;34019948;34185709;34932366;35051231;35580925;36010968;36284347;37938771;39894887;40914422;8692836", "class_list": "", "function": "Induces bone resorption, acting probably through a signaling cascade which results in the secretion of factor(s) enhancing osteoclast formation and activity., [UniProtKB, PubMed]; Osteoclast-stimulating factor-1 is an intracellular protein produced by osteoclasts that indirectly induces osteoclast formation and bone resorption (Reddy et al., 1998 [PubMed 10092216]).[supplied by OMIM, Mar 2008]., [RefSeq]; SH3P2, a novel component of adhesion sites, is involved in Cbl and Src-mediated pathways, [RefSeq, PubMed]; We utilized a structure-based approach to pinpoint the binding interface to a strictly conserved cluster of residues on the surface of RP2 that spans both the C- and N-terminal domains of the protein, and which is structurally distinct from the ARL3-binding site.RP2 is a positive regulator of cell motility in vitro, recruiting OSTF1 to the cell membrane and preventing its interaction with the migration regulator Myo1E. 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": 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": "Q5W126;Q96IJ4", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0034774 secretory granule lumen;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0007165 signal transduction;GO:0001503 ossification", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q92882-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRP0-1", "uniprot_id": [ { "id": "OSTC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRP0", "type": "external" } ], "mass": 16829.0, "length": 149, "protein_name": "Oligosaccharyltransferase complex subunit OSTC", "gene_name": "OSTC", "organism": "Human", "refseq_name": "oligosaccharyltransferase complex subunit OSTC isoform 3", "refseq_ac": [ { "id": "NP_001254747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254747", "type": "external" } ], "gene_names_uniprotkb": "OSTC; DC2; HDCMD45P; HSPC307", "gene_names_refseq": "DC2; OSTC", "protein_names_uniprotkb": "Oligosaccharyltransferase complex subunit OSTC; Hydrophobic protein HSF-28", "protein_names_refseq": "hydrophobic protein HSF-28; oligosaccharyltransferase complex subunit (non-catalytic); oligosaccharyltransferase complex subunit OSTC isoform 3; oligosaccharyltransferase complex subunit OSTC", "tax_id": 9606, "disease": "", "pathway": " (hsa:58505); (R-HSA-446203); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 6, "publication_count": 77, "publication_id_list": "10228156;11237011;11470266;12089159;12171918;12678917;12893276;14514716;14688233;15146197;16317064;16959974;17261850;18491227;19835842;20332099;20798515;21768116;22375065;22915798;23481700;24112972;24681004;24714562;24751383;24966173;26208004;26416966;27255086;27383988;27572267;28228593;2834401;28512129;28649982;28832583;28860277;28904123;29242379;29393594;29437277;29632046;29765039;30118680;30315122;30410026;31305264;31831667;31844290;32157095;32161166;32267060;32363391;32366695;32518941;32676595;33141586;33214551;33310888;33912179;34019948;34117209;34428449;34528721;34599882;34961524;35215835;36284347;36697828;36719382;38670073;38793607;39509507;6156677;7072193;7982500;7986008", "class_list": "", "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]; Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation., [RefSeq, PubMed]; Subunit of STT3A-containing oligosaccharyl transferase (OST-A) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:28860277, PubMed:31831667, PubMed:39509507). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER) (PubMed:28860277, PubMed:31831667, PubMed:39509507). Within the OST-A complex, acts as an adapter that anchors the OST-A complex to the Sec61 complex (PubMed:28860277). May be involved in N-glycosylation of APP (amyloid-beta precursor protein) (PubMed:21768116). Can modulate gamma-secretase cleavage of APP by enhancing endoprotelysis of PSEN1 (PubMed:21768116)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; These results suggest that the upregulation of OSTC/DC2, a novel component of the oligosaccharyltransferase complex, is part of the mammalian heat shock response., [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": "A8MYS2;B2R5H1;D6RH22;Q9P075;Q9P1R4", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0008250 oligosaccharyltransferase complex;GO:0160226 oligosaccharyltransferase complex A", "go_biological_process": "GO:0006487 protein N-linked glycosylation;GO:0009101 glycoprotein biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9NRP0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14715-1", "uniprot_id": [ { "id": "RGPD8_HUMAN", "url": "https://www.uniprot.org/uniprot/O14715", "type": "external" } ], "mass": 198993.0, "length": 1765, "protein_name": "RANBP2-like and GRIP domain-containing protein 8", "gene_name": "RGPD5; RGPD6; RGPD8", "organism": "Human", "refseq_name": "RANBP2-like and GRIP domain-containing protein 8", "refseq_ac": [ { "id": "NP_001157935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157935", "type": "external" } ], "gene_names_uniprotkb": "RGPD5; RGPD6; RGPD8; RANBP2ALPHA; RANBP2L1; RANBP2L3; RGPD5; RGPD6; RGPD8", "gene_names_refseq": "RANBP2L1; RGP8; RGPD8; RanBP2alpha", "protein_names_uniprotkb": "RANBP2-like and GRIP domain-containing protein 8; Ran-binding protein 2-like 3; RanBP2-like 3; RanBP2L3", "protein_names_refseq": "RAN binding protein 2-like 1; RANBP2-like and GRIP domain-containing protein 8; ran-binding protein 2-like 3; ranBP2-like 3; ranBP2L3", "tax_id": 9606, "disease": "", "pathway": " (hsa:727851)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;11303027;18220336;18669648;18691976;20934997;22645359;23186163;29351928;29493099;29557506;30315122;30429286;30620550;30833945;31092671;31154438;31217245;31492838;31530632;31844290;31848261;32157095;32161166;32357974;32897882;32938616;32983136;33691108;33968037;33981976;34211107;34509645;34561969;35051231;35318648;35513511;35561310;35580925;36010968;36241641;39534244;9480752", "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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "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": "Q5CZA8", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0005643 nuclear pore;GO:0005737 cytoplasm", "go_biological_process": "GO:0051168 nuclear export;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O14715-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JJ3-1", "uniprot_id": [ { "id": "ELMO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JJ3", "type": "external" } ], "mass": 82615.0, "length": 720, "protein_name": "Engulfment and cell motility protein 2", "gene_name": "ELMO2", "organism": "Human", "refseq_name": "engulfment and cell motility protein 2 isoform b", "refseq_ac": [ { "id": "NP_001305182", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305182", "type": "external" } ], "gene_names_uniprotkb": "ELMO2; CED12A; KIAA1834", "gene_names_refseq": "CED-12; CED12; Ced-12A; ELMO-2; ELMO2; VMPI", "protein_names_uniprotkb": "Engulfment and cell motility protein 2; Protein ced-12 homolog A; hCed-12A", "protein_names_refseq": "PH domain protein CED12A; ced-12 homolog 2; engulfment and cell motility protein 2 isoform b; engulfment and cell motility protein 2; protein ced-12 homolog A", "tax_id": 9606, "disease": "primary intraosseous venous malformation (MONDO:MONDO:0011744)", "pathway": " (hsa:63916); (R-HSA-2029482); (R-HSA-4420097); (R-HSA-8849471); (R-HSA-9013408); (R-HSA-9664422)", "pathway_count": 6, "publication_count": 211, "publication_id_list": "10037737;10075701;10207622;10219243;10395673;10496324;10523675;10559936;10652265;10677529;10692392;10724160;10744763;10749680;10781580;10878810;10995437;11007481;11157975;11231582;11237011;11276226;11278486;11329366;11340081;11553796;11595183;11689693;11695992;11696015;11703939;11747816;11804587;11829459;11854399;11864571;11967128;12055636;12105426;12134158;12177196;12189515;12213210;12214271;12215529;12235133;12376551;12391143;12464388;12660731;12743368;12787671;12810700;12820653;1314888;14676198;14724572;15026417;15040784;15133129;15247219;15308668;15452139;15572663;15657136;15688067;15695828;15951569;15962004;16262445;16308318;16336962;16339170;16546099;16641196;16702231;16760434;16880808;16966330;17016520;17027967;17030947;17188549;17199126;17202194;17237347;17293873;17308335;17389395;17686471;18070890;18077418;18391171;18829532;19230644;19267251;19581409;19713215;19741094;19955216;20068231;20658524;20679435;21037092;21419341;21445309;21621533;22084245;22327215;22424782;22689825;22734669;23186163;23216836;23255595;23443682;23675550;24366607;24567399;24659802;24714562;2474607;25332238;25576301;25645385;25810538;25892735;25938342;26154972;26992070;27397612;27476657;27481945;27539661;27600516;27846572;27920218;28196833;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632711;29731959;29769354;29786170;30315122;30429286;30604775;30779550;30833945;30882408;31154438;31217245;31844290;31848261;31871319;31937595;31998317;32157095;32164040;32357974;32488085;32502341;32651375;32897882;32938616;32983136;33141586;33298915;33392160;33717175;33936100;33968037;33981976;34211107;34357683;34509645;34932366;35051231;35580925;36010968;36241641;36284347;40914422;7476457;7509446;7848918;8617235;8809042;8939998;8986718;9099726;9182576;9219684;9302992;9393975;9398617;9407060;9472046;9600938;9705280;9799231;9822605;9843499;9883880;9885284", "class_list": "", "function": "Clinical and Molecular Study of ELMO-2-Related Massive Intraosseous Vascular Malformations: Lessons Learned From 25 Years of Follow-up., [RefSeq, PubMed]; Identification of lncRNA-associated differential subnetworks in oesophageal squamous cell carcinoma by differential co-expression analysis., [RefSeq, PubMed]; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Regulates the activity of DOCK guanine nucleotide exchange factors (GEFs) (PubMed:11595183, PubMed:11703939, PubMed:20679435, PubMed:32651375, PubMed:27476657). Acts in association with DOCK1, DOCK2, DOCK4 and CRK (PubMed:11595183, PubMed:20679435, PubMed:32651375, PubMed:27476657). Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility (PubMed:11595183)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Study demonstrated that an evolutionarily conserved fragment in the C-terminal cytoplasmic tail of BAI-aGPCRs is specifically recognized by the RBD-ARR-ELMO (RAE) supramodule of the ELMO family scaffolds. The crystal structures of ELMO2-RAE and its complex with BAI1 uncover the molecular basis of BAI/ELMO interactions. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; These data suggest a novel link between Tiam1 and RhoG/ILK /ELMO2 pathway as upstream effectors of the Rac1-mediated phagocytic process in trabecular meshwork 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": 7, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P5T3;Q5JVZ6;Q7Z5G9;Q96CJ2;Q96ME5;Q96PA9;Q9H938;Q9H9L5;Q9HAH0;Q9NQQ6", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding;GO:0030971 receptor tyrosine kinase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0007015 actin filament organization;GO:0006909 phagocytosis;GO:0006915 apoptotic process;GO:0060326 cell chemotaxis;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q96JJ3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QG7-1", "uniprot_id": [ { "id": "MTMR9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QG7", "type": "external" } ], "mass": 63462.0, "length": 549, "protein_name": "Myotubularin-related protein 9", "gene_name": "MTMR9", "organism": "Human", "refseq_name": "myotubularin-related protein 9", "refseq_ac": [ { "id": "NP_056273", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056273", "type": "external" } ], "gene_names_uniprotkb": "MTMR9; C8orf9; MTMR8", "gene_names_refseq": "C8orf9; LIP-STYX; MTMR8; MTMR9", "protein_names_uniprotkb": "Myotubularin-related protein 9; Inactive phosphatidylinositol 3-phosphatase 9", "protein_names_refseq": "inactive phosphatidylinositol 3-phosphatase 9; myotubularin related protein 8; myotubularin-related protein 9", "tax_id": 9606, "disease": "centronuclear myopathy X-linked (Disease Ontology:DOID:0111225); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); centronuclear myopathy (Disease Ontology:DOID:14717)", "pathway": " (hsa:66036); (R-HSA-1660499); (R-HSA-1660517); (R-HSA-1855183)", "pathway_count": 4, "publication_count": 137, "publication_id_list": "10194451;10224048;10419465;10555148;10559940;10593988;10753883;10766823;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11472061;11604140;11676921;11706043;11733541;11877430;11923287;12101241;12118066;12270933;12324459;12422219;12536145;12646134;12808147;12847086;12890864;1377913;14516276;14617813;14660569;14722070;15024000;15080793;15107860;15135396;15464023;15474001;15504367;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16787938;16914545;16979564;17008356;17068342;1718960;17245604;17556371;17651088;18093523;18364358;18524850;18669648;18753295;18950639;19038970;19413330;19651622;19664995;19690332;19896968;20068231;20534812;21204784;21406692;22037487;22223895;22647598;23186163;23188820;23481700;23519112;23758345;24591580;25495341;29393594;29632046;29769354;30237576;30429286;31154438;31704058;31844290;32157095;32265295;32357974;32387766;32938616;32991201;33298915;33968037;34171305;34357683;34509645;35051231;35580925;36241641;36284347;7608176;7624799;7628435;7721860;7761412;8006039;8390685;8681945;8723348;8769125;8999962;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9430698;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Acts as an adapter for myotubularin-related phosphatases (PubMed:19038970, PubMed:22647598). Increases lipid phosphatase MTMR6 catalytic activity, specifically towards phosphatidylinositol 3,5-bisphosphate and MTMR6 binding affinity for phosphorylated phosphatidylinositols (PubMed:19038970, PubMed:22647598). Positively regulates lipid phosphatase MTMR7 catalytic activity (By similarity). Increases MTMR8 catalytic activity towards phosphatidylinositol 3-phosphate (PubMed:22647598). The formation of the MTMR6-MTMR9 complex, stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970). Stabilizes MTMR8 protein levels (PubMed:22647598). Plays a role in the late stages of macropinocytosis possibly by regulating MTMR6-mediated dephosphorylation of phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Negatively regulates autophagy, in part via its association with MTMR8 (PubMed:22647598). Negatively regulates DNA damage-induced apoptosis, in part via its association with MTMR6 (PubMed:19038970, PubMed:22647598). Does not bind mono-, di- and tri-phosphorylated phosphatidylinositols, phosphatidic acid and phosphatidylserine (PubMed:19038970)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Genetic Variants of the MTMR9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study., [RefSeq, PubMed]; MTMR9 localizes to the intermediate compartment and to the Golgi apparatus. MTMR9 modulates WNT3A signalling by interfering with WNT3A secretion., [RefSeq, PubMed]; This gene encodes a myotubularin-related protein that is atypical to most other members of the myotubularin-related protein family because it has no dual-specificity phosphatase domain. The encoded protein contains a double-helical motif similar to the SET interaction domain, which is thought to have a role in the control of cell proliferation. In mouse, a protein similar to the encoded protein binds with MTMR7, and together they dephosphorylate phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. [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": 7, "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": "B7Z291;Q52LU3;Q8WW11;Q96QG6;Q9NX50", "ec_number_list": [], "go_molecular_function": "GO:0019903 protein phosphatase binding;GO:0019211 phosphatase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0032587 ruffle membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0050821 protein stabilization;GO:0010507 negative regulation of autophagy;GO:0060304 regulation of phosphatidylinositol dephosphorylation;GO:0006661 phosphatidylinositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q96QG7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP58-1", "uniprot_id": [ { "id": "LYNX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP58", "type": "external" } ], "mass": 12641.0, "length": 116, "protein_name": "Ly-6/neurotoxin-like protein 1", "gene_name": "LYNX1", "organism": "Human", "refseq_name": "ly-6/neurotoxin-like protein 1 precursor", "refseq_ac": [ { "id": "NP_803252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_803252", "type": "external" } ], "gene_names_uniprotkb": "LYNX1", "gene_names_refseq": "LYNX1", "protein_names_uniprotkb": "Ly-6/neurotoxin-like protein 1; Endogenous prototoxin LYNX1; Testicular tissue protein Li 112", "protein_names_refseq": "Ly-6 neurotoxin-like protein 1; endogenous prototoxin LYNX1; ly-6/neurotoxin-like protein 1 precursor; ly-6/neurotoxin-like protein 1; testicular tissue protein Li 112", "tax_id": 9606, "disease": "", "pathway": " (hsa:111188157); (hsa:66004)", "pathway_count": 2, "publication_count": 24, "publication_id_list": "11237011;17089039;18559515;19639180;21252236;23481700;24613312;25576301;26033490;27600516;28100642;29557506;30779550;31150435;31844290;32938616;33299855;33374963;33592498;34087483;35051231;36241641;37437646;37938771", "class_list": "", "function": "Acts in different tissues through interaction to nicotinic acetylcholine receptors (nAChRs) (PubMed:21252236). The proposed role as modulator of nAChR activity seems to be dependent on the nAChR subtype and stoichiometry, and to involve an effect on nAChR trafficking and its cell surface expression, and on single channel properties of the nAChR inserted in the plasma membrane. Modulates functional properties of nicotinic acetylcholine receptors (nAChRs) to prevent excessive excitation, and hence neurodegeneration. Enhances desensitization by increasing both the rate and extent of desensitization of alpha-4:beta-2-containing nAChRs and slowing recovery from desensitization. Promotes large amplitude ACh-evoked currents through alpha-4:beta-2 nAChRs. Is involved in regulation of the nAChR pentameric assembly in the endoplasmic reticulum. Shifts stoichiometry from high sensitivity alpha-4(2):beta-2(3) to low sensitivity alpha-4(3):beta-2(2) nAChR (By similarity). In vitro modulates alpha-3:beta-4-containing nAChRs. Reduces cell surface expression of (alpha-3:beta-4)(2):beta-4 and (alpha-3:beta-4)(2):alpha-5 nAChRs suggesting an interaction with nAChR alpha-3(-):(+)beta-4 subunit interfaces and an allosteric mode. Corresponding single channel effects characterized by decreased unitary conductance, altered burst proportions and enhanced desensitization/inactivation seem to depend on nAChR alpha:alpha subunit interfaces and are greater in (alpha-3:beta-2)(2):alpha-3 when compared to (alpha-3:beta-2)(2):alpha-5 nAChRs (PubMed:28100642). Prevents plasticity in the primary visual cortex late in life (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Decreased Lynx1 is associated with squamous cell lung carcinoma, [RefSeq, PubMed]; Increased Expression of LYNX1 in Ovarian Serous Cystadenocarcinoma Predicts Poor Prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; LY-6K meaningfully participates in breast cancer cell metastasis, [RefSeq, PubMed]; LY-6K,a novel member protein of the Ly-6/uPAR superfamily, is a significant new molecular marker for diagnosis and gene therapy in patients with breast cancer., [RefSeq, PubMed]; Lynx1 and the family of endogenous mammalian neurotoxin-like proteins and their roles in modulating nAChR function. Review article, [RefSeq, PubMed]; Spatial Structure and Activity of Synthetic Fragments of Lynx1 and of Nicotinic Receptor Loop C Models. Publication Status: Online-Only, [RefSeq, PubMed]; The ability of ws-Lynx1 to regulate homeostasis of epithelial cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; These findings provide new insights into the acetylcholine receptor-mediated regulatory mechanism of SLURP-2 expression in keratinocytes., [RefSeq, PubMed]; This gene encodes a GPI-anchored, cell membrane bound member of the Ly6/uPAR (LU) superfamily of proteins containing the unique three-finger LU domain. This protein interacts with nicotinic acetylcholine receptors (nAChRs), and is thought to function as a modulator of nAChR activity to prevent excessive excitation. Alternatively spliced transcript variants have been found for this gene. Read-through transcription between this gene and the neighboring downstream gene (SLURP2) generates naturally-occurring transcripts (LYNX1-SLURP2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [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": 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": "A0A140VJN6;D3DWI7;G3XAC2;Q86SR0;Q9BZG9", "ec_number_list": [], "go_molecular_function": "GO:0030548 acetylcholine receptor regulator activity;GO:0033130 acetylcholine receptor binding;GO:0008200 ion channel inhibitor activity;GO:0030550 acetylcholine receptor inhibitor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045202 synapse;GO:0098552 side of membrane", "go_biological_process": "GO:0095500 acetylcholine receptor signaling pathway;GO:0099601 regulation of neurotransmitter receptor activity", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P0DP58-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A58-1", "uniprot_id": [ { "id": "RERG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A58", "type": "external" } ], "mass": 22608.0, "length": 199, "protein_name": "Ras-related and estrogen-regulated growth inhibitor", "gene_name": "RERG", "organism": "Human", "refseq_name": "ras-related and estrogen-regulated growth inhibitor isoform 2", "refseq_ac": [ { "id": "NP_001177655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177655", "type": "external" } ], "gene_names_uniprotkb": "RERG", "gene_names_refseq": "RERG", "protein_names_uniprotkb": "Ras-related and estrogen-regulated growth inhibitor; 3.6.5.2", "protein_names_refseq": "ras-related and estrogen-regulated growth inhibitor isoform 2; ras-related and estrogen-regulated growth inhibitor", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612)", "pathway": " (hsa:85004)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;11533059;17924679;20697807;21270509;24992181;27705918;28716111;29557506;30431143;32157095;32986146;34087483", "class_list": "", "function": "Binds GDP/GTP and possesses intrinsic GTPase activity. Has higher affinity for GDP than for GTP., [UniProtKB, PubMed]; Estradiol estrogen receptor-beta and PGE2 integrate at RERG, leading to increased endometriotic cell proliferation., [RefSeq, PubMed]; In particular, methylation levels of ITGA4, RERG, and ZNF671 could distinguish Nasopharyngeal carcinoma (NPC) patients from non-cancer nasopharyngeal epithelium (NNE) subjects. We identified the DNA methylation rates of previously unidentified NPC candidate genes. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of RERG expression is associated with breast cancer and distant metastasis., [RefSeq, PubMed]; NF-kappaB-mediated miR-650 plays oncogenic roles and activates AKT/ERK/NF-kappaB pathways by targeting RERG in glioma cells., [RefSeq, PubMed]; RERG, a member of the RAS superfamily of GTPases, inhibits cell proliferation and tumor formation (Finlin et al., 2001 [PubMed 11533059]).[supplied by OMIM, Mar 2009]., [RefSeq]; Results describe the mRNA expression of CRABP1, RERG, and GRP in pituitary adenomas., [RefSeq, PubMed]; Study revealed that ERK5 can inhibit Raslike oestrogenregulated growth inhibitor (RERG) protein expression and that the inhibition of RERG expression promotes prostatic carcinoma cell proliferation and migration., [RefSeq, PubMed]; This study shows that miR-382-5p expression is negatively correlated with RERG expression, and functions as an independent oncomiR for the higher incidence and poorer prognosis of 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R9R0;B4DI02", "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:0030331 nuclear estrogen receptor binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0007265 Ras protein signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0030308 negative regulation of cell growth;GO:0009725 response to hormone", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96A58-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAP6-1", "uniprot_id": [ { "id": "LIN7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAP6", "type": "external" } ], "mass": 22896.0, "length": 207, "protein_name": "Protein lin-7 homolog B", "gene_name": "LIN7B", "organism": "Human", "refseq_name": "protein lin-7 homolog B isoform 2", "refseq_ac": [ { "id": "NP_001295348", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295348", "type": "external" } ], "gene_names_uniprotkb": "LIN7B; MALS2; PRO10200; VELI2", "gene_names_refseq": "LIN-7B; LIN7B; MALS-2; MALS2; VELI2", "protein_names_uniprotkb": "Protein lin-7 homolog B; Lin-7B; MALS-2; Mammalian lin-seven protein 2; Veli-2; Vertebrate lin-7 homolog 2; hLin7B; hVeli2", "protein_names_refseq": "hLin7B; hVeli2; lin-7 homolog B, crumbs cell polarity complex component; mammalian LIN-7 2; mammalian lin-seven protein 2; protein lin-7 homolog B isoform 2; protein lin-7 homolog B; veli-2; vertebrate LIN7 homolog 2; vertebrate lin-7 homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64130); (R-HSA-212676); (R-HSA-5666185); (R-HSA-6794361); (R-HSA-9609736)", "pathway_count": 5, "publication_count": 52, "publication_id_list": "10591629;10873388;10940294;11237011;11604393;11742811;12221077;12473120;12519779;12967566;12975309;15317815;15540461;15767687;15935055;16242404;16624946;16846852;16979770;17237226;17478680;17855605;17891149;17897391;17989281;17997397;18617632;18812509;18829961;20064387;20064388;20519524;21282647;25196215;25378172;28904123;30429286;30590034;31844290;35051231;36010968;37217939;7695896;7736595;8571126;8576240;8662891;9069287;9701566;9753324;9808458;9927700", "class_list": "", "function": "Functional deficiency in Lin-7B could be implicated in clinical phenotypes in some autism spectrum disorders patients through bringing about abnormal cortical architecture, [RefSeq, PubMed]; Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity). This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface (By similarity)., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0015031 protein transport;GO:0007269 neurotransmitter secretion;GO:0006887 exocytosis;GO:0048489 synaptic vesicle transport;GO:0008582 regulation of synaptic assembly at neuromuscular junction", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9HAP6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1J1-1", "uniprot_id": [ { "id": "REN3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1J1", "type": "external" } ], "mass": 54696.0, "length": 476, "protein_name": "Regulator of nonsense transcripts 3A", "gene_name": "UPF3A", "organism": "Human", "refseq_name": "regulator of nonsense transcripts 3A isoform hUpf3p", "refseq_ac": [ { "id": "NP_075387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075387", "type": "external" } ], "gene_names_uniprotkb": "UPF3A; RENT3A; UPF3", "gene_names_refseq": "HUPF3A; RENT3A; UPF3A; UPF3", "protein_names_uniprotkb": "Regulator of nonsense transcripts 3A; Nonsense mRNA reducing factor 3A; Up-frameshift suppressor 3 homolog A; hUpf3", "protein_names_refseq": "UPF3 regulator of nonsense transcripts homolog A; hUpf3; nonsense mRNA reducing factor 3A; regulator of nonsense transcripts 3A isoform hUpf3p; up-frameshift suppressor 3 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:65110); (R-HSA-9010553); (R-HSA-975957)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "11113196;11163187;11237011;11331269;11532962;11544179;11546873;11546874;11551508;12417715;12554878;12718880;12832468;14527413;14636577;14742663;14973490;15034551;15546618;15721257;16186820;16209946;16284618;16452507;16601204;17053788;17352659;17363904;17803942;17893241;18066079;18256688;18423202;18524595;18657639;18974281;19060897;19150429;19359157;19417104;19478851;19503078;19556969;19706539;19859661;19909264;20023408;20479275;20691628;20817927;20930030;21145460;21406692;21419344;23085078;23217742;23234702;23481700;23746841;24714562;24715725;25220460;25242263;25418920;25576301;25880248;25892735;26375851;26728094;26992070;27846572;28228285;28832583;28834231;29485866;29508533;29557506;29632711;29769354;30315122;30429286;31154438;31530632;31844290;32157095;32357974;32502341;32718059;32897882;32938616;32983136;33691108;33912179;33936100;34561969;35051231;35451084;35451102;35640974;36807382", "class_list": "", "function": "(Phospho)proteomic Profiling of Microsatellite Unstable CRC Cells Reveals Alterations in Nuclear Signaling and Cholesterol Metabolism Caused by Frameshift Mutation of NMD Regulator UPF3A. Publication Status: Online-Only, [RefSeq, PubMed]; Binds to spliced mRNAs upstream of exon-exon junctions; is part of mRNP complexes that are ready for nuclear export and that participate in nonsense-mediated mRNA decay, [RefSeq, PubMed]; Genetic compensation response could exist in colorectal cancer: UPF3A upregulates the oncogenic homologue gene SRSF3 expression corresponding to SRSF6 to promote colorectal cancer metastasis., [RefSeq, PubMed]; Human UPF3A and UPF3B enable fault-tolerant activation of nonsense-mediated mRNA decay., [RefSeq, PubMed]; Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. However, UPF3A is shown to be only marginally active in NMD as compared to UPF3B. Binds spliced mRNA upstream of exon-exon junctions. In vitro, weakly stimulates translation., [UniProtKB, PubMed, PubMed]; Mammalian UPF3A and UPF3B can activate nonsense-mediated mRNA decay independently of their exon junction complex binding., [RefSeq, PubMed]; Structures of nonsense-mediated mRNA decay factors UPF3B and UPF3A in complex with UPF2 reveal molecular basis for competitive binding and for neurodevelopmental disorder-causing mutation., [RefSeq, PubMed]; This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of exon-exon junctions. This gene is located on the long arm of chromosome 13. Several splice variants encoding different isoforms have been found for this gene. [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": 1, "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": "A2A366;Q5T8C3;Q5T8C9;Q7Z6N3;Q86YK1;Q9BZI8", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0042162 telomeric DNA binding;GO:0140311 protein sequestering activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0045727 positive regulation of translation;GO:0051028 mRNA transport;GO:2000623 negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q9H1J1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NW13-1", "uniprot_id": [ { "id": "RBM28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NW13", "type": "external" } ], "mass": 85738.0, "length": 759, "protein_name": "RNA-binding protein 28", "gene_name": "RBM28", "organism": "Human", "refseq_name": "RNA-binding protein 28 isoform 2", "refseq_ac": [ { "id": "NP_001159607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159607", "type": "external" } ], "gene_names_uniprotkb": "RBM28", "gene_names_refseq": "ANES; NOP4; RBM28", "protein_names_uniprotkb": "RNA-binding protein 28; RNA-binding motif protein 28", "protein_names_refseq": "2810480G15Rik; RNA-binding protein 28 isoform 2", "tax_id": 9606, "disease": "alopecia, neurologic defects, and endocrinopathy syndrome (Disease Ontology:DOID:0112244)", "pathway": " (hsa:55131); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "11237011;11922599;12068309;12150911;12429849;16037817;16043514;16738141;17081119;17189298;17353269;17412707;18065403;18438418;18439547;18452278;18669648;19007248;19106111;19332556;19564402;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22544926;22898188;22916032;23186163;23439679;23481700;23482395;2388630;24424021;24550520;25418920;25525153;25576301;25645385;25969445;26154972;26237581;26375851;26992070;27077951;27600516;27846572;27862975;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30429286;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33941690;33968037;33981976;34087483;34171305;34211107;34229054;34405274;34509645;34953860;35051231;35251023;35561310;35580925;36010968;36215666;36241641;37938771;40914422;9482744", "class_list": "", "function": "A loss-of-function mutation is found in RBM28, encoding a nucleolar protein in patients with alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome)., [RefSeq, PubMed]; Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome., [RefSeq, PubMed]; Nucleolar component of the spliceosomal ribonucleoprotein complexes., [UniProtKB, PubMed]; RBM28 is a common nucleolar component of the spliceosomal ribonucleoprotein complexes, possibly coordinating their transition through the nucleolus, [RefSeq, PubMed]; RNA-binding protein RBM28 can translocate from the nucleolus to the nucleoplasm to inhibit the transcriptional activity of p53., [RefSeq, PubMed]; The authors conclude that the ANE syndrome mutation generates defective RBM28 protein folding which abrogates protein-protein interactions and causes faulty pre-large subunit rRNA processing, thus revealing one aspect of the molecular basis of this human disease. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small nuclear RNAs (snRNAs), possibly coordinating their transition through the nucleolus. Mutation in this gene causes alopecia, progressive neurological defects, and endocrinopathy (ANE syndrome), a pleiotropic and clinically heterogeneous disorder. Alternatively spliced transcript variants encoding different isoforms have been found for 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "A4D100;B4DU52;E9PDD9;Q53H65;Q96CV3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005681 spliceosomal complex;GO:0005634 nucleus", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9NW13-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6C8-1", "uniprot_id": [ { "id": "LIRA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6C8", "type": "external" } ], "mass": 47472.0, "length": 439, "protein_name": "Leukocyte immunoglobulin-like receptor subfamily A member 3", "gene_name": "LILRA3", "organism": "Human", "refseq_name": "leukocyte immunoglobulin-like receptor subfamily A member 3 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001166125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166125", "type": "external" } ], "gene_names_uniprotkb": "LILRA3; ILT6; LIR4", "gene_names_refseq": "CD85E; HM31; HM43; ILT-6; ILT6; LILRA3; LIR-4; LIR4", "protein_names_uniprotkb": "Leukocyte immunoglobulin-like receptor subfamily A member 3; CD85 antigen-like family member E; ILT-6; Immunoglobulin-like transcript 6; LIR-4; Leukocyte immunoglobulin-like receptor 4; Monocyte inhibitory receptor HM43/HM31", "protein_names_refseq": "CD85 antigen-like family member E; immunoglobulin-like transcript 6; leucocyte Ig-like receptor A3; leukocyte immunoglobulin-like receptor 4; leukocyte immunoglobulin-like receptor subfamily A member 3 isoform 2 precursor; leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3; monocyte inhibitory receptor HM43/HM31", "tax_id": 9606, "disease": "", "pathway": " (hsa:11026); (R-HSA-198933); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 97, "publication_id_list": "37639587;10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12750859;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15340161;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18439545;18593354;19149696;19359216;19592130;20730098;21241660;21559424;21800138;21841309;21877119;22396535;23650620;23695528;23929856;24085305;24305946;25703557;25716998;26284469;26300885;32357974;32983136;34211061;34357683;35051231;35325077;36215666;37462532;38015196;7531291;7542404;8178173;8692836;8995416;9079806;9278324;9285412;9314561;9548455;9700512;9730896", "class_list": "", "function": "A susceptibility locus in the IL12B but not LILRA3 region is associated with vascular damage in Takayasu arteritis. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a soluble receptor for class I MHC antigens. Binds both classical and non-classical HLA class I molecules but with reduced affinities compared to LILRB1 or LILRB2. Binds with high affinity to the surface of monocytes, leading to abolish LPS-induced TNF production by monocytes., [UniProtKB, PubMed, PubMed]; Leukocyte Ig-like receptor A3 facilitates inflammation, migration and invasion of synovial tissue-derived fibroblasts via ERK/JNK activation., [RefSeq, PubMed]; Leukocyte immunoglobulin-like receptor A3 gene deletion in five Chinese populations and protective association with nasopharyngeal carcinoma., [RefSeq, PubMed]; Our results suggest that both the nonfunctional LILRA3 alleles and the low-expressing LILRB2 alleles identified in our study have increased in Northeast Asians because of natural selection., [RefSeq, PubMed]; Soluble LILRA3 is aberrantly expressed in antiphospholipid syndrome (APS) and is a potential marker of thrombotic APS., [RefSeq, PubMed]; This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "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": 5, "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": 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": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 1077, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "J3KPM2;O15469;O15470;O75016;Q8N151;Q8N154;Q8NHJ1;Q8NHJ2;Q8NHJ3;Q8NHJ4", "ec_number_list": [], "go_molecular_function": "GO:0032396 inhibitory MHC class I receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0070821 tertiary granule membrane;GO:0101003 ficolin-1-rich granule membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:0140105 interleukin-10-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q8N6C8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.1000100001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N149-1", "uniprot_id": [ { "id": "LIRA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N149", "type": "external" } ], "mass": 52966.0, "length": 483, "protein_name": "Leukocyte immunoglobulin-like receptor subfamily A member 2", "gene_name": "LILRA2", "organism": "Human", "refseq_name": "leukocyte immunoglobulin-like receptor subfamily A member 2 isoform b precursor", "refseq_ac": [ { "id": "NP_006857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006857", "type": "external" } ], "gene_names_uniprotkb": "LILRA2; ILT1; LIR7", "gene_names_refseq": "CD85H; ILT1; LILRA2; LIR-7; LIR7", "protein_names_uniprotkb": "Leukocyte immunoglobulin-like receptor subfamily A member 2; CD85 antigen-like family member H; ILT-1; Immunoglobulin-like transcript 1; LIR-7; Leukocyte immunoglobulin-like receptor 7", "protein_names_refseq": "CD85 antigen-like family member H; immunoglobulin-like transcript 1; leucocyte Ig-like receptor A2; leukocyte immunoglobulin-like receptor 7; leukocyte immunoglobulin-like receptor subfamily A member 2 isoform b precursor; leukocyte immunoglobulin-like receptor subfamily A member 2 soluble; leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11027); (R-HSA-198933)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12529506;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;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19230061;19359216;19592130;19658091;20730098;21241660;21800138;21841309;21877119;22396535;22479404;23695528;23929856;24305946;25703557;25716998;26284469;26300885;27572839;31154438;31530632;31848261;32424043;36720556;7531291;7542404;8178173;8995416;9285412;9314561;9548455;9700512;9730896", "class_list": "", "function": "Findings demonstrate that LILRA2 is a type of innate immune receptor in the host immune system that detects immunoglobulin abnormalities caused by microbial pathogens. GeneRIF: LILRA2 recognizes microbially cleaved antibodies and activates innate immunity, suggesting that LILRA2 detects dangerous immunological situations in which antibodies are destroyed by pathogens. Publication Status: Online-Only, [RefSeq, PubMed]; LILRA2-mediated activation of monocytes is significantly different to LPS and that LILRA2 selectively modulates LPS-mediated monocyte activation and FcgammaRI-dependent phagocytosis. Erratum:[PLoS One. 2012;7(8). doi: 10.1371/annotation/f4475cbd-3518-46cd-bb6b-a326008af388], [RefSeq, PubMed]; Molecular mechanism of the recognition of bacterially cleaved immunoglobulin by the immune regulatory receptor LILRA2., [RefSeq, PubMed]; Overexpression of LILRA2 indicated poor prognosis of ovarian carcinoma: A new potential biomarker and therapeutic target., [RefSeq, PubMed]; Part of the innate immune responses against microbial infection (PubMed:12529506, PubMed:27572839). Specifically recognizes a set of N-terminally truncated immunoglobulins that are produced via cleavage by proteases from a range of pathogenic bacteria and fungi, including L.pneumophila, M.hyorhinis, S.pneumoniae, S.aureus and C.albicans (PubMed:27572839). Recognizes epitopes that are in part in the variable region of the immunoglobulin light chains, but requires also the constant region for signaling (PubMed:27572839). Binds to a subset of cleaved IgM, IgG3 and IgG4 molecules, but does not bind cleaved IgA1 (PubMed:27572839). Binding of N-terminally truncated immunoglobulins mediates activation of neutrophils (PubMed:27572839). In monocytes, activation leads to the release of CSF2, CF3, IL6, CXCL8 and CCL3 and down-regulates responses to bacterial lipopolysaccharide (LPS), possibly via down-regulation of TLR4 expression and reduced signaling via TLR4 (PubMed:22479404). In eosinophils, activation by ligand binding leads to the release of RNASE2, IL4 and leukotriene C4 (PubMed:12529506). Does not bind class I MHC antigens (PubMed:19230061)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of a family of immunoreceptors that are expressed predominantly on monocytes and B cells, and at lower levels on dendritic cells and natural killer cells. The encoded protein is an activating receptor that inhibits dendritic cell differentiation and antigen presentation and suppresses innate immune response. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and there is a pseudogene for this gene on chromosome 3. [provided by RefSeq, Mar 2014]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 42, "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": "O75020", "ec_number_list": [], "go_molecular_function": "GO:0001791 IgM binding;GO:0003823 antigen binding;GO:0038023 signaling receptor activity;GO:0032396 inhibitory MHC class I receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0002283 neutrophil activation involved in immune response;GO:0006952 defense response;GO:0007165 signal transduction;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q8N149-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11234-1", "uniprot_id": [ { "id": "RALB_HUMAN", "url": "https://www.uniprot.org/uniprot/P11234", "type": "external" } ], "mass": 23409.0, "length": 206, "protein_name": "Ras-related protein Ral-B", "gene_name": "RALB", "organism": "Human", "refseq_name": "ras-related protein Ral-B", "refseq_ac": [ { "id": "NP_002872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002872", "type": "external" } ], "gene_names_uniprotkb": "RALB", "gene_names_refseq": "RALB", "protein_names_uniprotkb": "Ras-related protein Ral-B; 3.6.5.2", "protein_names_refseq": "GTP binding protein); RALB Ras like proto-oncogene B; RAS-like protein B; ras related GTP binding protein B; ras-related protein Ral-B; v-ral simian leukemia viral oncogene homolog B (ras related", "tax_id": 9606, "disease": "pancreatic adenocarcinoma (Disease Ontology:DOID:4074)", "pathway": " (hsa:5899); (R-HSA-171007)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10393179;11237011;14525976;17875936;18292551;18756269;19166349;20696399;20934997;20940393;2120779;22393054;24714562;25502872;26024233;2662142;26992070;27452731;27920218;28467828;28832583;29242379;29557506;30429286;30833945;31222486;31611695;31844290;32350084;32387766;32502341;32938616;33122623;33290747;33592498;33717175;33968037;34009715;34171305;34357683;35051231;35251023;35580925;7673236;7972015;8846784", "class_list": "", "function": "MicroRNA-139 inhibits pancreatic-cancer carcinogenesis by suppressing RalB via the Ral/RAC/PI3K pathway., [RefSeq, PubMed]; Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking (PubMed:10393179, PubMed:17875936, PubMed:18756269). Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis (PubMed:17875936). In late stages of cytokinesis, upon completion of the bridge formation between dividing cells, mediates exocyst recruitment to the midbody to drive abscission (PubMed:18756269). Involved in ligand-dependent receptor mediated endocytosis of the EGF and insulin receptors (PubMed:10393179)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; RALB GTPase: a critical regulator of DR5 expression and TRAIL sensitivity in KRAS mutant colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Ral GTPase-activating protein regulates the malignancy of pancreatic ductal adenocarcinoma., [RefSeq, PubMed]; This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [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": 11, "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": "B4E040;Q53T32;Q6ZS74", "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:0051117 ATPase binding;GO:0031625 ubiquitin protein ligase binding;GO:0019003 GDP binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0030496 midbody;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0007165 signal transduction;GO:0031623 receptor internalization;GO:0051301 cell division;GO:0006915 apoptotic process;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P11234-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD34-1", "uniprot_id": [ { "id": "LYRM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD34", "type": "external" } ], "mass": 10758.0, "length": 91, "protein_name": "LYR motif-containing protein 4", "gene_name": "LYRM4", "organism": "Human", "refseq_name": "LYR motif-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_065141", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065141", "type": "external" } ], "gene_names_uniprotkb": "LYRM4; C6orf149; CGI-203; ISD11", "gene_names_refseq": "C6orf149; CGI-203; COXPD19; ISD11; LYRM4", "protein_names_uniprotkb": "LYR motif-containing protein 4", "protein_names_refseq": "LYR motif-containing protein 4 isoform 1; homolog of yeast Isd11; mitochondrial matrix Nfs1 interacting protein", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 19 (Disease Ontology:DOID:0111476)", "pathway": " (hsa:57128); (R-HSA-1362409); (R-HSA-9854311); (R-HSA-9865881)", "pathway_count": 4, "publication_count": 80, "publication_id_list": "10639125;11237011;11342225;11823441;12785837;12886008;12947415;12970193;15247478;15509595;15952888;16847322;17331979;17923681;18319250;18339629;18425540;18452278;18650437;19068216;19454487;19628817;20167786;20522547;20668094;20873749;21278747;21298097;21776984;21944046;21987576;22077971;22101253;22306468;22323289;22352884;22416140;22511353;23168492;23593335;23814038;24385928;24733926;24954416;24954417;25008109;25347204;25605331;26016389;26016518;26375851;26749241;27989128;28001042;28380382;28391595;28514659;28673544;28832583;28844695;28887308;28904123;29097656;29243944;29557506;31101807;31664822;31844290;32929120;33592498;33717175;33968037;34289383;34357683;34561969;34824239;34969438;35051231;35561310;9989622", "class_list": "", "function": "Frataxin interacts with ISD11 and multiple mitochondrial chaperones., [RefSeq, PubMed]; In this work, the structure of the human mitochondrial ACP-ISD11 heterodimer was determined at 2.0 A resolution., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Stabilizing factor, of the core iron-sulfur cluster (ISC) assembly complex, that regulates, in association with NDUFAB1, the stability and the cysteine desulfurase activity of NFS1 and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:17331979, PubMed:31664822). 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 (By similarity). May also participates in the iron-sulfur protein biogenesis in the cytoplasm through its interaction with the cytoplasmic form of NFS1 (PubMed:19454487)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K543;Q5XKP1", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042803 protein homodimerization activity;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0016604 nuclear body;GO:1990221 L-cysteine desulfurase complex", "go_biological_process": "GO:0016226 iron-sulfur cluster assembly;GO:0044571 [2Fe-2S] cluster assembly;GO:0044572 [4Fe-4S] cluster assembly", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9HD34-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75840-1", "uniprot_id": [ { "id": "KLF7_HUMAN", "url": "https://www.uniprot.org/uniprot/O75840", "type": "external" } ], "mass": 33362.0, "length": 302, "protein_name": "Krueppel-like factor 7", "gene_name": "KLF7", "organism": "Human", "refseq_name": "Krueppel-like factor 7 isoform 2", "refseq_ac": [ { "id": "NP_001257871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257871", "type": "external" } ], "gene_names_uniprotkb": "KLF7; UKLF", "gene_names_refseq": "KLF7; UKLF", "protein_names_uniprotkb": "Krueppel-like factor 7; Ubiquitous krueppel-like factor", "protein_names_refseq": "Krueppel-like factor 7 isoform 2; Kruppel like factor 7; Kruppel-like factor 7 (ubiquitous); krueppel-like factor 7; ubiquitous Kruppel-like factor; ubiquitous Kruppel-like transcription factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:8609)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11230166;11237011;14644156;16339272;20305658;23134681;25576301;25880248;26154972;27846572;28916725;29251763;29557506;31154438;31217245;31375868;31848261;32387766;33123756;35051231;37217939;38768927;38924469;39097779;39165088;9774444", "class_list": "", "function": "KLF7 enhances the invasion and migration of colorectal cancer cells via the miR-139-5p/TPD52 axis., [RefSeq, PubMed]; KLF7 may contribute to the pathogenesis of type 2 diabetes through an impairment of insulin biosynthesis and secretion in pancreatic beta-cells and a reduction of insulin sensitivity in peripheral tissues., [RefSeq, PubMed]; KLF7 promotes neuroblastoma differentiation through the GTPase signaling pathway by upregulating neuroblast differentiation-associated protein AHNAKs and glycerophosphodiesterase GDPD5., [RefSeq, PubMed]; KLF7 was upregulated by morphine at both the transcriptional and the translational levels, promoting cell growth up to day 4, [RefSeq, PubMed]; Newborn adiposity is associated with cord blood DNA methylation at IGF1R and KLF7., [RefSeq, PubMed]; The protein encoded by this gene is a member of the Kruppel-like transcriptional regulator family. Members in this family regulate cell proliferation, differentiation and survival and contain three C2H2 zinc fingers at the C-terminus that mediate binding to GC-rich sites. This protein may contribute to the progression of type 2 diabetes by inhibiting insulin expression and secretion in pancreatic beta-cells and by deregulating adipocytokine secretion in adipocytes. A pseudogene of this gene is located on the long arm of chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]; Transcriptional factor (PubMed:16339272, PubMed:9774444). Plays a critical role in neuronal morphogenesis and survival of sensory neurons (By similarity). Represses the corneal epithelium differentiation (PubMed:28916725). Also acts as a metabolic regulator, by modulating insulin sensitivity in pancreatic beta cells and skeletal muscle cells (PubMed:16339272). Inhibits transcriptional inducers of adipogenesis and has a repressive role in the expression of several adipokines, including leptin (PubMed:16339272)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; UKLF/PCBP2 axis governs the colorectal cancer development by transcriptionally activating SLC39A4., [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": 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": "B2RB03;B7Z4F7;C9JF04;E7EWH1;L0R4P2;Q7Z3H8;Q96E51", "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: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_biological_process": "GO:0045604 regulation of epidermal cell differentiation;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:0007409 axonogenesis", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "O75840-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2G4-1", "uniprot_id": [ { "id": "LYPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2G4", "type": "external" } ], "mass": 15240.0, "length": 141, "protein_name": "Ly6/PLAUR domain-containing protein 1", "gene_name": "LYPD1", "organism": "Human", "refseq_name": "ly6/PLAUR domain-containing protein 1 isoform b", "refseq_ac": [ { "id": "NP_001070895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070895", "type": "external" } ], "gene_names_uniprotkb": "LYPD1; LYPDC1; Lynx2; PRO9917; PSEC0181", "gene_names_refseq": "LYPD1; LYPDC1; PHTS", "protein_names_uniprotkb": "Ly6/PLAUR domain-containing protein 1; PHTS; Putative HeLa tumor suppressor", "protein_names_refseq": "ly6/PLAUR domain-containing protein 1 isoform b; ly6/PLAUR domain-containing protein 1; putative HeLa tumor suppressor", "tax_id": 9606, "disease": "", "pathway": " (hsa:116372); (R-HSA-163125)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11072085;11237011;12975309;16303743;16413018;2443973;27600516;31154438;32488085;32772918;3422494", "class_list": "", "function": "ALKBH5 suppresses malignancy of hepatocellular carcinoma via m(6)A-guided epigenetic inhibition of LYPD1. Publication Status: Online-Only, [RefSeq, PubMed]; Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro increases receptor desensitization and decreases affinity for ACh of alpha-4:beta-2-containing nAChRs. May play a role in the intracellular trafficking of alpha-4:beta-2 and alpha-7-containing nAChRs and may inhibit their expression at the cell surface. May be involved in the control of anxiety., [UniProtKB, UniProtKB]; The PHTS is involved in HeLaHF reversion independently of the p53 pathway, and Expression profiling revealed that PHTS is one of the genes that is up-regulated in HeLaHF but not in HeLa., [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": 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": "H7BXW6;Q6ZP52;Q6ZWI4;Q96AC2", "ec_number_list": [], "go_molecular_function": "GO:0033130 acetylcholine receptor binding;GO:0030550 acetylcholine receptor inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0098552 side of membrane", "go_biological_process": "GO:0095500 acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N2G4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86WA8-1", "uniprot_id": [ { "id": "LONP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86WA8", "type": "external" } ], "mass": 94617.0, "length": 852, "protein_name": "Lon protease homolog 2, peroxisomal", "gene_name": "LONP2", "organism": "Human", "refseq_name": "lon protease homolog 2, peroxisomal isoform 2", "refseq_ac": [ { "id": "NP_001287877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287877", "type": "external" } ], "gene_names_uniprotkb": "LONP2; LONP", "gene_names_refseq": "LONP2; LONPL; LONP; PLON; PSLON", "protein_names_uniprotkb": "Lon protease homolog 2, peroxisomal; 3.4.21.53; Lon protease 2; Lon protease-like protein 2; Peroxisomal Lon protease; pLon", "protein_names_refseq": "lon protease 2; lon protease homolog 2, peroxisomal isoform 2; lon protease homolog 2, peroxisomal; lon protease-like protein 2; peroxisomal LON protease like; peroxisomal Lon protease homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83752); (R-HSA-390471); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 156, "publication_id_list": "10022913;10562279;10673331;11101887;11237011;11546814;11781871;11931631;12456682;12502735;12559034;12578380;12717447;12885776;14561759;15545321;15858711;16854980;17007944;17726030;18281296;18359941;18452278;18712838;18767875;18775504;18991276;19011634;19197237;19208625;19584060;19632994;20112406;20178365;21098288;21554508;21976670;21980954;21995946;22002062;22057399;22371489;22424782;22544926;22747494;22898188;23481700;23747015;23963456;24029068;24235149;24366607;24397554;24714562;24715725;24756126;24865970;25016021;25342745;25418920;25467444;25538232;25576301;25645385;25854684;25892735;26086376;26138649;26154972;26220973;26344566;26375851;26728094;26811146;26929215;26992070;27597759;27600516;27846572;27862975;28521612;28611990;28765278;28787099;28904123;29437277;29493099;29502128;29557506;30315122;30379171;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34405274;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9539740;9653144;9668159;9819444;9837948", "class_list": "", "function": "ATP-dependent serine protease that mediates the selective degradation of misfolded and unassembled polypeptides in the peroxisomal matrix. Necessary for type 2 peroxisome targeting signal (PTS2)-containing protein processing and facilitates peroxisome matrix protein import (By similarity). May indirectly regulate peroxisomal fatty acid beta-oxidation through degradation of the self-processed forms of TYSND1., [UniProtKB, HAMAP, PubMed]; Findings suggest that LONP2 promotes cervical tumorigenesis via oxidative stress. Publication Status: Online-Only, [RefSeq, PubMed]; In human, peroxisomes function primarily to catalyze fatty acid beta-oxidation and, as a by-product, produce hydrogen peroxide and superoxide. The protein encoded by this gene is an ATP-dependent protease that likely plays a role in maintaining overall peroxisome homeostasis as well as proteolytically degrading peroxisomal proteins damaged by oxidation. The protein has an N-terminal Lon N substrate recognition domain, an ATPase domain, a proteolytic domain, and, in some isoforms, a C-terminal peroxisome targeting sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "B7ZKL7;Q0D2H6;Q8N3B9;Q8NCE9;Q96K43", "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": "1.2.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.12", "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": "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": "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": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "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": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.2.1.45", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.45", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.46", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.46", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.5.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "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": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "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": "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": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0002020 protease binding;GO:0004252 serine-type endopeptidase activity;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0016485 protein processing;GO:0007031 peroxisome organization;GO:0006625 protein targeting to peroxisome;GO:0016558 protein import into peroxisome matrix;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 15.9, "record_id": "Q86WA8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L9B9-1", "uniprot_id": [ { "id": "EEPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L9B9", "type": "external" } ], "mass": 62403.0, "length": 569, "protein_name": "Endonuclease/exonuclease/phosphatase family domain-containing protein 1", "gene_name": "EEPD1", "organism": "Human", "refseq_name": "endonuclease/exonuclease/phosphatase family domain-containing protein 1", "refseq_ac": [ { "id": "NP_085139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_085139", "type": "external" } ], "gene_names_uniprotkb": "EEPD1; KIAA1706", "gene_names_refseq": "EEPD1; HSPC107", "protein_names_uniprotkb": "Endonuclease/exonuclease/phosphatase family domain-containing protein 1", "protein_names_refseq": "endonuclease/exonuclease/phosphatase family domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80820); (R-HSA-9029569)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10858438;11149950;11237011;11500512;11604492;11875109;12032151;12150943;12454263;12612088;14703507;14764426;15147902;17186944;18782758;19481530;20068231;20213681;20466882;20466885;20494359;20566875;20855588;21187453;21310851;21507939;22541735;22673513;23186163;23481700;23496987;23519696;23790976;24275569;24715725;25576301;26684013;26984517;27846572;27862975;28049724;28082258;28832583;28842423;28869506;29145865;29242379;29314611;29557506;29772548;29786170;30429286;31154438;32157095;32350084;32387766;32983136;33141586;33298915;33912179;33936100;34171305;34211107;34357683;34509645;34932366;35051231;35561310;35580925;36241641;37938771;37976838", "class_list": "", "function": "EEPD1 is a novel LXR-regulated gene in macrophages and that it promotes cellular cholesterol efflux by controlling cellular levels and activity of ABCA1., [RefSeq, PubMed]; EEPD1 performs a gatekeeper function for replication fork repair by mediating the fork cleavage that permits initiation of HR-mediated repair and restart of stressed forks, [RefSeq, PubMed]; Super-enhancer-associated EEPD1 facilitates EMT-mediated metastasis by regulating the PI3K/AKT/mTOR pathway in gastric cancer., [RefSeq, PubMed]; The mechanism by which RAD52 depletion causes synthetic lethality in BRCA1 mutant cancer cells depends on the 5' endonuclease EEPD1, which normally functions to cleave stressed replication forks to initiate HR repair. Publication Status: Online-Only, [RefSeq, PubMed]; These data demonstrate that genome stability during replication stress is maintained by EEPD1, which initiates HR and inhibits cNHEJ and MMEJ. 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": 11, "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": "Q96K64;Q9C0F7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006281 DNA repair;GO:0010875 positive regulation of cholesterol efflux", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q7L9B9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVV2-1", "uniprot_id": [ { "id": "LOXH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVV2", "type": "external" } ], "mass": 235677.0, "length": 2067, "protein_name": "Lipoxygenase homology domain-containing protein 1", "gene_name": "LOXHD1", "organism": "Human", "refseq_name": "lipoxygenase homology domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001138944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138944", "type": "external" } ], "gene_names_uniprotkb": "LOXHD1", "gene_names_refseq": "DFNB77; LH2D1; LOXHD1", "protein_names_uniprotkb": "Lipoxygenase homology domain-containing protein 1", "protein_names_refseq": "lipoxygenase homology domain-containing protein 1 isoform 2; lipoxygenase homology domain-containing protein 1; lipoxygenase homology domains 1", "tax_id": 9606, "disease": "orofacial cleft (Disease Ontology:DOID:0050567); autosomal recessive nonsyndromic deafness 77 (Disease Ontology:DOID:0110525); Fuchs' endothelial dystrophy (Disease Ontology:DOID:11555)", "pathway": " (hsa:125336)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;19732867;21465660;22341973;24715725;25792669;26992070;27600516;29393594;29485866;31709873;32149082;33753533;33892339;35051231;35705030", "class_list": "", "function": "A mutation in LOXHD1, which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL), was identified., [RefSeq, PubMed]; Authors identified a missense change in LOXHD1. Data implicate rare alleles in LOXHD1 in the pathogenesis of FCD and highlight how different mutations in the same locus can potentially produce diverse phenotypes., [RefSeq, PubMed]; Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families. Erratum:[Biomed Res Int. 2020 Sep 28;2020:9519415. doi: 10.1155/2020/9519415. PMID: 33062705] Publication Status: Online-Only, [RefSeq, PubMed]; Involved in hearing. Required for normal function of hair cells in the inner ear (By similarity)., [UniProtKB, PubMed]; Mutations in LOXHD1 are identified in a Japanese population with sensorineural hearing loss., [RefSeq, PubMed]; Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1., [RefSeq, PubMed]; Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants. Review article, [RefSeq, PubMed]; Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s., [RefSeq, PubMed]; The LOXHD1 variant c.1828G>A present in the wife had not previously been reported in individuals with congenital hearing loss., [RefSeq, PubMed]; This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community GeneRIF: A founder mutation R1572X in the LOXHD1 causes autosomal recessive hearing loss in Ashkenazi Jews, [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "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": "B7WNN3;B7WNT1;B7WPI9;H7BZ41;Q6ZRY7;Q86WW9;Q96DL7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032420 stereocilium", "go_biological_process": "GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8IVV2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75916-1", "uniprot_id": [ { "id": "RGS9_HUMAN", "url": "https://www.uniprot.org/uniprot/O75916", "type": "external" } ], "mass": 76966.0, "length": 674, "protein_name": "Regulator of G protein signaling 9", "gene_name": "RGS9", "organism": "Human", "refseq_name": "regulator of G-protein signaling 9 isoform 2", "refseq_ac": [ { "id": "NP_001075424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075424", "type": "external" } ], "gene_names_uniprotkb": "RGS9", "gene_names_refseq": "PERRS1; PERRS; RGS9L; RGS9", "protein_names_uniprotkb": "Regulator of G protein signaling 9; RGS9", "protein_names_refseq": "regulator of G-protein signaling 9 isoform 2; regulator of G-protein signalling 9", "tax_id": 9606, "disease": "bradyopsia (Disease Ontology:DOID:0050335); bradyopsia 1 (Disease Ontology:DOID:0070363); Parkinsonism (Disease Ontology:DOID:0080855)", "pathway": " (hsa:8787); (R-HSA-418594); (R-HSA-6814122)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10564809;11007482;11237011;12120503;14614075;14702087;15889144;15951850;16634148;16702223;16717095;16923326;17322306;18434541;18577758;19376773;23481700;23637185;2534964;25505266;25591550;25659125;25675501;25892735;26154972;26345773;26811146;2748346;27846572;27920218;2834384;28514659;28832583;28904123;29107794;29242379;29393594;29557506;30429286;31092671;31217245;31844290;32357974;32938616;33298915;33912179;34561969;35051231;35580925;36284347;7937899;8015379;8406495;9153422;9765512", "class_list": "", "function": "Five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who report difficulty adapting to sudden changes in luminance levels mediated by cones, [RefSeq, PubMed]; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction (By similarity)., [UniProtKB]; These findings indicate a role for RGS9 gene polymorphisms in heroin dependence and may be informative for future genetic or biological studies on heroin dependence., [RefSeq, PubMed]; This case series highlights the clinical presentations and features of 5 affected children (3 Arab families) who harbored the same homozygous RGS9 frameshift mutation, which seems to represent a founder effect for the Arabian Peninsula., [RefSeq, PubMed]; This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]; To identify single-nucleotide polymorphisms that contribute to the genetic susceptibility to schizophrenia, we examined the potential association between schizophrenia and 9 single nucleotide polymorphisms in the G-protein signaling 9 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3C0;O75573;Q696R2;Q8TD64;Q8TD65;Q9HC32;Q9HC33", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0043005 neuron projection;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007399 nervous system development;GO:0035556 intracellular signal transduction;GO:0001975 response to amphetamine;GO:0007212 G protein-coupled dopamine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "O75916-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZQ6-1", "uniprot_id": [ { "id": "EDEM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZQ6", "type": "external" } ], "mass": 104664.0, "length": 932, "protein_name": "ER degradation-enhancing alpha-mannosidase-like protein 3", "gene_name": "EDEM3", "organism": "Human", "refseq_name": "ER degradation-enhancing alpha-mannosidase-like protein 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001306889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306889", "type": "external" } ], "gene_names_uniprotkb": "EDEM3; C1orf22", "gene_names_refseq": "C1orf22; CDG2V; EDEM3", "protein_names_uniprotkb": "ER degradation-enhancing alpha-mannosidase-like protein 3; 3.2.1.113; Alpha-1,2-mannosidase EDEM3", "protein_names_refseq": "ER degradation enhancer, mannosidase alpha-like 3; ER degradation-enhancing -mannosidase-like protein 3; ER degradation-enhancing alpha-mannosidase-like 3; ER degradation-enhancing alpha-mannosidase-like protein 3 isoform 1 precursor; alpha-1,2-mannosidase EDEM3", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIv (Disease Ontology:DOID:0051050)", "pathway": " (hsa:80267); (R-HSA-901032)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "10.1101/2023.09.13.557529;10409699;10694380;11237011;11318611;12913004;15713668;16431915;18003979;18264092;18417469;18426978;19084021;19159218;23232094;24190977;25092655;25418920;25576301;25645385;25892735;26154972;26811146;26992070;27846572;27862975;28218747;28228285;28514659;28834231;28904123;29242379;29437277;29557506;29741879;29769354;29786170;30315122;30429286;30484775;30496732;31217245;31611695;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33392160;33592498;33671632;33691108;33912179;33968037;34087483;34143952;34185709;34509645;34698634;35051231;35251023;35318648;35580925;35897761;36010968;36284347;37074911;37217939;37938771;38665916", "class_list": "glycogene;glycosylhydrolase", "function": "Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation., [RefSeq, PubMed]; EDEM3 Domains Cooperate to Perform Its Overall Cell Functioning. Publication Status: Online-Only, [RefSeq, PubMed]; IL8 and EDEM3 gene expression ratio indicates peripheral blood mononuclear cell (PBMC) quality. Erratum:[J Immunol Methods. 2020 Mar;478:112733. doi: 10.1016/j.jim.2019.112733. PMID: 31916985], [RefSeq, PubMed]; Involved in endoplasmic reticulum-associated degradation (ERAD). Accelerates the glycoprotein ERAD by proteasomes, by catalyzing mannose trimming from Man8GlcNAc2 to Man7GlcNAc2 in the N-glycans (PubMed:25092655). May also participate in mannose trimming from all glycoproteins and not just misfolded ones targeted to ERAD (PubMed:34143952). May have alpha 1,2-mannosidase activity (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Pro-Survival Factor EDEM3 Confers Therapy Resistance in Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Purified EDEM3 or EDEM1 alone produces determinant oligosaccharide structures from M8B in mammalian glycoprotein ERAD. Publication Status: Online-Only, [RefSeq, PubMed]; Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 belongs to a group of proteins that accelerate degradation of misfolded glycoproteins in the ER (Hirao et al., 2006 [PubMed 16431915]).[supplied by OMIM, Mar 2008]., [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": 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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1134, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2RCH6;B7ZLZ2;Q0VGM5;Q5TEZ0;Q7L2Y5;Q9HCW1;Q9UFV7", "ec_number_list": [ { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.113", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.113", "type": "external" } ], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0044322 endoplasmic reticulum quality control compartment", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0030968 endoplasmic reticulum unfolded protein response;GO:0036503 ERAD pathway;GO:1904380 endoplasmic reticulum mannose trimming;GO:0097466 ubiquitin-dependent glycoprotein ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q9BZQ6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX46-1", "uniprot_id": [ { "id": "RBM24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX46", "type": "external" } ], "mass": 24776.0, "length": 236, "protein_name": "RNA-binding protein 24", "gene_name": "RBM24", "organism": "Human", "refseq_name": "RNA-binding protein 24 isoform 3", "refseq_ac": [ { "id": "NP_001137413", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137413", "type": "external" } ], "gene_names_uniprotkb": "RBM24; RNPC6", "gene_names_refseq": "RBM24; RNPC6; dJ259A10.1", "protein_names_uniprotkb": "RNA-binding protein 24; RNA-binding motif protein 24; RNA-binding region-containing protein 6", "protein_names_refseq": "RNA-binding protein 24 isoform 3; RNA-binding protein 24; RNA-binding region (RNP1, RRM) containing 6; RNA-binding region-containing protein 6", "tax_id": 9606, "disease": "microphthalmia (Disease Ontology:DOID:10629); dilated cardiomyopathy (Disease Ontology:DOID:12930); cataract (Disease Ontology:DOID:83)", "pathway": " (hsa:221662)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;19658189;19817877;20977548;22345307;24356969;24375645;25313962;26990106;28832583;29104163;29242379;29358667;29380205;31217245;31844290;32157095;32350084;32387766;32938616;32983136;34019948;35051231;35561310;35580925;36454480;36464077;38158676;38441112;39004256", "class_list": "", "function": "(Microbial infection) Promotes hepatitis C virus (HCV) replication over translation through the inhibition of viral protein expression. Decreases viral translation by linking viral 5'- and 3'-UTRs, blocking 80S ribosome assembly on the viral IRES and enhancing the interaction of the mature core protein and 5'-UTR., [UniProtKB, PubMed]; It was found that this protein Rbm24 regulates myogenic differentiation via the p21 signal pathway., [RefSeq, PubMed]; MiR-20a-5p targets RBM24 and alleviates hypertensive intracerebral hemorrhage. Publication Status: Online-Only, [RefSeq, PubMed]; Multifunctional RNA-binding protein involved in the regulation of pre-mRNA splicing, mRNA stability and mRNA translation important for cell fate decision and differentiation (PubMed:20977548, PubMed:24375645, PubMed:29104163, PubMed:29358667). Plays a major role in pre-mRNA alternative splicing regulation (PubMed:26990106, PubMed:29104163). Mediates preferentially muscle-specific exon inclusion in numerous mRNAs important for striated cardiac and skeletal muscle cell differentiation (PubMed:29104163). Binds to intronic splicing enhancer (ISE) composed of stretches of GU-rich motifs localized in flanking intron of exon that will be included by alternative splicing (By similarity). Involved in embryonic stem cell (ESC) transition to cardiac cell differentiation by promoting pre-mRNA alternative splicing events of several pluripotency and/or differentiation genes (PubMed:26990106). Plays a role in the regulation of mRNA stability (PubMed:20977548, PubMed:24356969, PubMed:24375645, PubMed:29104163). Binds to 3'-untranslated region (UTR) AU-rich elements in target transcripts, such as CDKN1A and MYOG, leading to maintain their stabilities (PubMed:20977548, PubMed:24356969). Involved in myogenic differentiation by regulating MYOG levels (PubMed:20977548). Binds to multiple regions in the mRNA 3'-UTR of TP63 isoform 2, hence inducing its destabilization (PubMed:24375645). Also promotes the destabilization of the CHRM2 mRNA via its binding to a region in the coding sequence (PubMed:29104163). Plays a role in the regulation of mRNA translation (PubMed:29358667). Mediates repression of p53/TP53 mRNA translation through its binding to U-rich element in the 3'-UTR, hence preventing EIF4E from binding to p53/TP53 mRNA and translation initiation (PubMed:29358667). Binds to a huge amount of mRNAs (PubMed:29104163). Required for embryonic heart development, sarcomer and M-band formation in striated muscles (By similarity). Together with RBM20, promotes the expression of short isoforms of PDLIM5/ENH in cardiomyocytes (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB]; RBM24 controls cardiac QT interval through CaMKIIdelta splicing. Publication Status: Online-Only, [RefSeq, PubMed]; RBM24 inhibits the translation of SARS-CoV-2 polyproteins by targeting the 5'-untranslated region., [RefSeq, PubMed]; Rbm24 is a novel player in the p53 pathway, which may be explored to restore proper cell cycle control in p53-deficient tumors via p21., [RefSeq, PubMed]; Rbm24 modulates neuronal RNA splicing to restrict cognitive dysfunction., [RefSeq, PubMed]; YAP1-induced RBM24 promotes the tumorigenesis of triple-negative breast cancer through the beta-catenin pathway., [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": 2, "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": "E9PAY4;Q6QDA4;Q8N9D3;Q96NI3", "ec_number_list": [], "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0097157 pre-mRNA intronic binding;GO:0003730 mRNA 3'-UTR binding;GO:1990715 mRNA CDS binding;GO:0035925 mRNA 3'-UTR AU-rich region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0010831 positive regulation of myotube differentiation;GO:0010830 regulation of myotube differentiation;GO:0006397 mRNA processing;GO:0030154 cell differentiation;GO:0048255 mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9BX46-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H400-1", "uniprot_id": [ { "id": "LIME1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H400", "type": "external" } ], "mass": 31288.0, "length": 295, "protein_name": "Lck-interacting transmembrane adapter 1", "gene_name": "LIME1", "organism": "Human", "refseq_name": "lck-interacting transmembrane adapter 1 isoform 1", "refseq_ac": [ { "id": "NP_060276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060276", "type": "external" } ], "gene_names_uniprotkb": "LIME1; LIME; LP8067", "gene_names_refseq": "LIME1; LIME; dJ583P15.4", "protein_names_uniprotkb": "Lck-interacting transmembrane adapter 1; Lck-interacting membrane protein; Lck-interacting molecule", "protein_names_refseq": "lck-interacting membrane protein; lck-interacting molecule; lck-interacting transmembrane adapter 1 isoform 1; lck-interacting transmembrane adapter 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54923)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;14610044;14610046;15498874;16160011;19901323;24275569;24715725;25576301;25880248;25892735;26375851;26992070;28832583;28904123;29242379;29484035;29557506;29769354;29786170;31154438;31217245;31844290;31848261;32157095;32502341;32983136;33298915;33912179;34171305;34357683;35154160;35318648;35561310;35580925;36581221", "class_list": "", "function": "Involved in BCR (B-cell antigen receptor)-mediated signaling in B-cells and TCR (T-cell antigen receptor)-mediated T-cell signaling in T-cells. In absence of TCR signaling, may be involved in CD4-mediated inhibition of T-cell activation. Couples activation of these receptors and their associated kinases with distal intracellular events such as calcium mobilization or MAPK activation through the recruitment of PLCG2, GRB2, GRAP2, and other signaling molecules., [UniProtKB, PubMed]; Results identified one differentially methylated region associated with cerebral palsy within the transcription start site of the LIME1 gene, which plays a key role in inflammatory pathways. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane adaptor protein that links the T and B-cell receptor stimulation to downstream signaling pathways via its association with the Src family kinases Lck and Lyn, respectively. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 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": 7, "reported_mutagensis": 5, "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": "E1P5K5;E1P5K6;Q5JWJ2;Q6XYB3;Q9NX69", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0019815 B cell receptor complex", "go_biological_process": "GO:0050852 T cell receptor signaling pathway;GO:0002250 adaptive immune response;GO:0050853 B cell receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9H400-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75335-3", "uniprot_id": [ { "id": "LIPA4_HUMAN", "url": "https://www.uniprot.org/uniprot/O75335", "type": "external" } ], "mass": 134404.0, "length": 1185, "protein_name": "Liprin-alpha-4", "gene_name": "PPFIA4", "organism": "Human", "refseq_name": "liprin-alpha-4 isoform 1", "refseq_ac": [ { "id": "NP_001291260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291260", "type": "external" } ], "gene_names_uniprotkb": "PPFIA4; KIAA0897", "gene_names_refseq": "PPFIA4", "protein_names_uniprotkb": "Liprin-alpha-4; PTPRF-interacting protein alpha-4; Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-4", "protein_names_refseq": "PTPRF interacting protein alpha 4; liprin-alpha-4 isoform 1; liprin-alpha-4; protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:8497); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-388844)", "pathway_count": 7, "publication_count": 61, "publication_id_list": "10440375;10620514;11001057;11015561;11027560;11068039;11242046;11756489;12519779;1339386;14612982;15750591;15935055;16116111;16616430;17301226;17478680;17766642;17891149;17989281;18215623;18617632;19252495;20139422;21262467;21829649;21940441;22286174;22357843;23345436;23363473;23481700;24578174;25385546;25645385;25908590;27600516;28218747;28460022;28657654;28834231;2892215;29187440;29557506;30379171;30842147;31154438;31844290;3214421;32350084;38182152;39531497;7796809;7823026;8071310;8095030;8211186;9260930;9624153;9701566;9753324", "class_list": "", "function": "Data show that liprin-alpha4 plays a pivotal role in inducing malignant phenotypes such as increased proliferation and invasion in pancreatic cancer, and that liprin-alpha4 could be a new effective therapeutic target for pancreatic cancer., [RefSeq, PubMed]; Hypoxia appears to up-regulate the expression of liprin-alpha4, which induces the expression of HIF1alpha. HIF1alpha contributes to increased proliferation and lower chemosensitivity. Therefore, inhibition of liprin-alpha4 or HIF1alpha led to reduced proliferation and increased chemosensitivity of SBC-5 cells., [RefSeq, PubMed]; May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates (By similarity)., [UniProtKB]; PPFIA4 Promotes Proliferation, Migration and Glycolysis of Esophageal Cancer Cells., [RefSeq, PubMed]; PPFIA4, or liprin-alpha-4, belongs to the liprin-alpha gene family. See liprin-alpha-1 (LIP1, or PPFIA1; MIM 611054) for background on liprins.[supplied by OMIM, Mar 2008]., [RefSeq]; Presence of Liprin-alpha4 and nickel increased tyrosine phosphatase activity that reduced the global levels of tyrosine phosphorylation in the cell, [RefSeq, PubMed]; The results identify PP1IFA4 loci associated with early onset atrial fibrillation in a Korean 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": 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": 2, "reported_mutagensis": 0, "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": "A2RUJ5;B1APN8;B1N949;B7ZM43;O94971", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0009986 cell surface;GO:0045202 synapse;GO:0048786 presynaptic active zone", "go_biological_process": "GO:0050808 synapse organization", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O75335-3", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0AV96-1", "uniprot_id": [ { "id": "RBM47_HUMAN", "url": "https://www.uniprot.org/uniprot/A0AV96", "type": "external" } ], "mass": 64099.0, "length": 593, "protein_name": "RNA-binding protein 47", "gene_name": "RBM47", "organism": "Human", "refseq_name": "RNA-binding protein 47 isoform a", "refseq_ac": [ { "id": "NP_001092104", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092104", "type": "external" } ], "gene_names_uniprotkb": "RBM47", "gene_names_refseq": "NET18; RBM47", "protein_names_uniprotkb": "RNA-binding protein 47; RNA-binding motif protein 47", "protein_names_refseq": "RNA-binding protein 47 isoform a; RNA-binding protein 47", "tax_id": 9606, "disease": "", "pathway": " (hsa:54502)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "11237011;20068231;22645359;22706990;24038582;24129315;24366607;24715725;24916387;26154972;26992070;27050523;27846572;27862975;27869121;27893789;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29237092;29242379;29393594;29437277;29493099;29508533;29557506;29786170;29789417;30059200;30315122;30410026;30429286;30484775;30844405;31217245;31358901;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34160127;34171305;34499322;34509645;35051231;35132862;35254053;35513511;35580925;36284347;37014710;37340703;38156907;38553613;39531497;40596516", "class_list": "", "function": "Deubiquitinating enzyme OTUD4 stabilizes RBM47 to induce ATF3 transcription: a novel mechanism underlying the restrained malignant properties of ccRCC cells., [RefSeq, PubMed]; RBM47 regulates intestinal injury and tumorigenesis by modifying proliferation, oxidative response, and inflammatory pathways. Publication Status: Online-Only, [RefSeq, PubMed]; RNA binding motif 47 (RBM47): emerging roles in vertebrate development, RNA editing and cancer. Review article, [RefSeq, PubMed]; RNA-Binding Motif Protein RBM47 Promotes Invasiveness of Glioblastoma Through Activation of Epithelial-to-Mesenchymal Transition Program., [RefSeq, PubMed]; Single-stranded RNA-binding protein that functions in a variety of RNA processes, including alternative splicing, RNA stabilization, and RNA editing (PubMed:24038582, PubMed:24916387, PubMed:27050523, PubMed:30844405, PubMed:31358901, PubMed:34160127). Functions as an enzyme-substrate adapter for the cytidine deaminase APOBEC1. With APOBEC1 forms an mRNA editing complex involved into cytidine to uridine editing of a variety of mRNA molecules (PubMed:24038582, PubMed:24916387, PubMed:30844405). Through the binding of their 3'UTR, also stabilizes a variety of mRNAs and regulates the expression of genes such as the interferon alpha/beta receptor and interleukin-10 (PubMed:34160127). Also involved in the alternative splicing of several genes including TJP1. Binds the pre-mRNA (U)GCAUG consensus sequences in downstream intronic regions of alternative exons, regulating their exclusion and inclusion into mRNAs (PubMed:27050523, PubMed:31358901). Independently of its RNA-binding activity, could negatively regulate MAVS by promoting its lysosomal degradation (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, 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": 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": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 23, "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": "A0PJK2;B5MED4;Q8NI52;Q8NI53;Q9NXG3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019899 enzyme binding;GO:0003730 mRNA 3'-UTR binding;GO:0140767 enzyme-substrate adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0030895 apolipoprotein B mRNA editing enzyme complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0016554 cytidine to uridine editing;GO:0008380 RNA splicing;GO:0070935 3'-UTR-mediated mRNA stabilization;GO:0032733 positive regulation of interleukin-10 production", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "A0AV96-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAE3-1", "uniprot_id": [ { "id": "CLXN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAE3", "type": "external" } ], "mass": 24488.0, "length": 211, "protein_name": "Calaxin", "gene_name": "CLXN", "organism": "Human", "refseq_name": "calaxin isoform b", "refseq_ac": [ { "id": "NP_001136329", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136329", "type": "external" } ], "gene_names_uniprotkb": "CLXN; EFCAB1; ODAD5", "gene_names_refseq": "CILD53; CLXN; EFCAB1; ODAD5", "protein_names_uniprotkb": "Calaxin; EF-hand calcium-binding domain-containing protein 1", "protein_names_refseq": "EF-hand calcium binding domain 1; EF-hand calcium-binding domain-containing protein 1; calaxin isoform b; outer dynein arm docking complex subunit 5", "tax_id": 9606, "disease": "primary ciliary dyskinesia (Disease Ontology:DOID:9562); ciliary dyskinesia, primary, 53 (MONDO:MONDO:0957991)", "pathway": " (hsa:79645)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;20479155;29557506;31429579;36727596", "class_list": "", "function": "Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule. Seems to regulate the assembly of both ODAs and their axonemal docking complex onto ciliary microtubules (By similarity). Regulates ciliary and flagellar motility and is required for cilia-driven determination of body laterality (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pathogenic variants in CLXN encoding the outer dynein arm docking-associated calcium-binding protein calaxin cause 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": 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": "B4DSB4;E7EVN7", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0009966 regulation of signal transduction;GO:0003341 cilium movement;GO:0036158 outer dynein arm assembly;GO:0003352 regulation of cilium movement", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9HAE3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94810-1", "uniprot_id": [ { "id": "RGS11_HUMAN", "url": "https://www.uniprot.org/uniprot/O94810", "type": "external" } ], "mass": 52946.0, "length": 467, "protein_name": "Regulator of G protein signaling 11", "gene_name": "RGS11", "organism": "Human", "refseq_name": "regulator of G-protein signaling 11 isoform 3", "refseq_ac": [ { "id": "NP_001273414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273414", "type": "external" } ], "gene_names_uniprotkb": "RGS11", "gene_names_refseq": "RGS11; RS11", "protein_names_uniprotkb": "Regulator of G protein signaling 11; RGS11", "protein_names_refseq": "regulator of G-protein signaling 11 isoform 3; regulator of G-protein signalling 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:8786); (R-HSA-418594); (R-HSA-6814122)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10339615;11007482;11237011;12120503;15889144;15951850;16634148;16702223;16717095;16923326;18434541;18577758;19376773;20453000;20627871;23637185;24828608;2534964;25659125;25675501;27105500;2748346;2834384;30779550;35051231;7937899;8015379;8406495;9153422;9789084", "class_list": "", "function": "In granulosa cells, there are significant changes in expression during follicular maturation., [RefSeq, PubMed]; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Overexpression of RGS11 promotes cell migration, participates in tumor metastasis, and correlates the clinicopathological conditions of patients with lung adenocarcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the RGS (regulator of G protein signaling) family. Members of the RGS family act as GTPase-activating proteins on the alpha subunits of heterotrimeric, signal-transducing G proteins. This protein inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form. Alternative splicing occurs at this locus and four transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Nov 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "O75883;Q4TT71;Q4TT72", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0043005 neuron projection;GO:0032991 protein-containing complex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0009968 negative regulation of signal transduction;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O94810-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBW4-1", "uniprot_id": [ { "id": "S38A9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBW4", "type": "external" } ], "mass": 63776.0, "length": 561, "protein_name": "Neutral amino acid transporter 9", "gene_name": "SLC38A9", "organism": "Human", "refseq_name": "neutral amino acid transporter 9 isoform 2", "refseq_ac": [ { "id": "NP_001245215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245215", "type": "external" } ], "gene_names_uniprotkb": "SLC38A9; URLC11", "gene_names_refseq": "SLC38A9; SNAT9; URLC11", "protein_names_uniprotkb": "Neutral amino acid transporter 9; Solute carrier family 38 member 9; Up-regulated in lung cancer 11", "protein_names_refseq": "neutral amino acid transporter 9 isoform 2; putative sodium-coupled neutral amino acid transporter 9; up-regulated in lung cancer 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:153129); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-8943724); (R-HSA-9639288)", "pathway_count": 8, "publication_count": 222, "publication_id_list": "10329961;10654941;10716435;10745013;10980602;11018120;11029283;11034341;11096062;11237011;11340051;11378386;11486029;11545734;11781575;11825910;11959846;12150926;12151408;12161445;12203114;12438239;12453409;12524439;12714747;12742462;12805220;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14651849;14985505;15105503;15187094;15223;15314020;15579580;15589136;15755954;15809305;15854902;15878852;16098514;16140933;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16943194;16963840;1715244;17277771;17298220;17386266;17470430;17486094;17510057;17517883;17540029;17618624;17873065;17974977;18172008;18198340;18321988;18344994;18372248;18391013;18439900;18487508;18497260;18604198;18669648;18692468;19113821;19211835;19322194;19413330;19439913;19440552;19487573;19590496;19822145;19855179;19884659;19898463;20059746;20080666;20182617;20233713;20351271;20378837;20381137;20516213;20713597;20921139;21177865;21205641;21258367;21289308;21383122;21460621;21602892;21750704;21819378;21958598;22053050;22128185;22170151;22363791;22575674;22682742;22980980;23202584;23287862;23685627;23723238;23727157;23775793;23884233;24066844;24081491;24095279;24366874;24383451;24718924;24747438;24762746;24954904;25259925;25263562;25457612;25484072;25502872;25561175;25567906;25568151;25576301;25579166;25728608;25819761;25892735;25961827;25963655;26375851;26449471;26586190;26652033;26910647;26972053;26992070;27308486;27487210;27648300;28066558;28199306;28199315;28218747;28228285;28336668;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29314611;29437277;29557506;29632711;29769354;30061680;30181260;30315122;30651352;30779550;30956113;31295473;31844290;32350084;32357974;32387766;32868926;32938616;33392160;33537174;33592498;33717175;33912179;33968037;34185709;34433824;34932366;35051231;35058442;35154160;35494241;35580925;36010968;36103527;36241641;36581221;5666113;7499430;7628435;7979252;7989588;8119488;8549768;8779952;9721431;9926927", "class_list": "", "function": "Lysosomal amino acid transporter involved in the activation of mTORC1 in response to amino acid levels (PubMed:25561175, PubMed:25567906, PubMed:29053970). Probably acts as an amino acid sensor of the Rag GTPases and Ragulator complexes, 2 complexes involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:25567906, PubMed:29053970). Following activation by amino acids, the Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated (PubMed:25561175, PubMed:25567906). SLC38A9 mediates transport of amino acids with low capacity and specificity with a slight preference for polar amino acids (PubMed:25561175, PubMed:25567906). Acts as an arginine sensor (PubMed:25567906, PubMed:29053970, PubMed:31295473). Following activation by arginine binding, mediates transport of L-glutamine, leucine and tyrosine with high efficiency, and is required for the efficient utilization of these amino acids after lysosomal protein degradation (PubMed:29053970, PubMed:31295473). However, the transport mechanism is not well defined and the role of sodium is not clear (PubMed:25561175, PubMed:31295473). Can disassemble the lysosomal folliculin complex (LFC), and thereby triggers GAP activity of FLCN:FNIP2 toward RRAGC (PubMed:32868926). Acts as an cholesterol sensor that conveys increases in lysosomal cholesterol, leading to lysosomal recruitment and activation of mTORC1 via the Rag GTPases (PubMed:28336668). Guanine exchange factor (GEF) that, upon arginine binding, stimulates GDP release from RRAGA and therefore activates the Rag GTPase heterodimer and the mTORC1 pathway in response to nutrient sufficiency (PubMed:30181260)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SLC38A9 is a physical and functional component of the amino acid sensing machinery that controls the activation of mTOR, [RefSeq, PubMed]; SNPs within SLC38A9 are correlated with inflammatory bowel disease patients' 6-thioguanine nucleotide blood concentrations. Publication Status: Online-Only, [RefSeq, PubMed]; Structural mechanism for amino acid-dependent Rag GTPase nucleotide state switching by SLC38A9., [RefSeq, PubMed]", "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": 3, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 13, "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": "A0A0A8K8P2;B3KXV1;B7Z7D0;Q0P5S0;Q6MZJ8", "ec_number_list": [], "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0046872 metal ion binding;GO:0015485 cholesterol binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0015171 amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0005770 late endosome;GO:1990877 FNIP-folliculin RagC/D GAP", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006868 glutamine transport;GO:0032008 positive regulation of TOR signaling;GO:0071230 cellular response to amino acid stimulus;GO:0003333 amino acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "Q8NBW4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BJ8-1", "uniprot_id": [ { "id": "ELMO3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BJ8", "type": "external" } ], "mass": 81467.0, "length": 720, "protein_name": "Engulfment and cell motility protein 3", "gene_name": "ELMO3", "organism": "Human", "refseq_name": "engulfment and cell motility protein 3", "refseq_ac": [ { "id": "NP_078988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078988", "type": "external" } ], "gene_names_uniprotkb": "ELMO3", "gene_names_refseq": "CED-12; CED12; ELMO-3; ELMO3", "protein_names_uniprotkb": "Engulfment and cell motility protein 3", "protein_names_refseq": "ced-12 homolog 3; engulfment and cell motility protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79767)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;20127720;24567399;24715725;25576301;26191257;27999268;28039609;29242379;29557506;29786170;30345300;30374620;30379171;31844290;33981976;35051231;35580925;36284347;39894887", "class_list": "", "function": "ELMO3 might serve as a clinical prognostic marker of patients with minor salivary gland carcinoma, [RefSeq, PubMed]; Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1 (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The over-expression of ELMO3 was a potential diagnostic and prognostic marker for non-small cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The present study reports the first characterization of the ELMO3 promoter and suggests a significant role of CDX2 in the basal transcriptional regulation of the intestine-specific expression of ELMO3, possibly through interaction with SP1., [RefSeq, PubMed]; The protein encoded by this gene is similar to a C. elegans protein that functions in phagocytosis of apoptotic cells and in cell migration. Other members of this small family of engulfment and cell motility (ELMO) proteins have been shown to interact with the dedicator of cyto-kinesis 1 protein to promote phagocytosis and effect cell shape changes. [provided by RefSeq, Jul 2008]., [RefSeq]; The purpose of this study was to asses ELMO3 expression in postoperatively irradiated head and neck squamous cell carcinoma patients., [RefSeq, PubMed]; The results indicate that ELMO3 participates in the processes of cell growth, invasion, and migration, and ELMO3 is expected to be a potential diagnostic and prognostic marker for gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The silencing of ELMO3 inhibited cell proliferation, invasion, metastasis, and F-actin polymerization, and induced Gap 1 (G1) phase cell cycle arrest, demonstrating that ELMO3 is involved in the processes of growth, invasion and metastasis of Colorectal 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": 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": 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": "B4DV86;Q9H8A5", "ec_number_list": [], "go_molecular_function": "GO:0017124 SH3 domain binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007015 actin filament organization;GO:0006909 phagocytosis;GO:0006915 apoptotic process;GO:0048870 cell motility;GO:2001212 regulation of vasculogenesis", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q96BJ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYR8-1", "uniprot_id": [ { "id": "RDH8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYR8", "type": "external" } ], "mass": 33755.0, "length": 311, "protein_name": "Retinol dehydrogenase 8", "gene_name": "RDH8", "organism": "Human", "refseq_name": "retinol dehydrogenase 8", "refseq_ac": [ { "id": "NP_056540", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056540", "type": "external" } ], "gene_names_uniprotkb": "RDH8; PRRDH; SDR28C2", "gene_names_refseq": "PRRDH; RDH8; SDR28C2; STGD5", "protein_names_uniprotkb": "Retinol dehydrogenase 8; 1.1.1.300; Photoreceptor outer segment all-trans retinol dehydrogenase; Short chain dehydrogenase/reductase family 28C member 2", "protein_names_refseq": "photoreceptor outer segment all-trans retinol dehydrogenase; retinol dehydrogenase 8 (all-trans); retinol dehydrogenase 8; short chain dehydrogenase/reductase family 28C member 2", "tax_id": 9606, "disease": "Stargardt disease 5 (Disease Ontology:DOID:0061240)", "pathway": " (hsa:50700); (R-HSA-2453902)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10075733;10617778;10753906;11123914;11237011;11274389;12036956;12177057;12407145;15314061;15471866;15865448;17255476;19049981;1925597;19309693;20192770;21043051;21493626;21774515;22220722;22665496;2303470;24714562;2542268;27600516;29508533;3170584;31844290;32157095;34297769;37628710;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8884265;9490294;9541407;9703434;9920938", "class_list": "", "function": "A Splicing Variant in RDH8 Is Associated with Autosomal Recessive Stargardt Macular Dystrophy. Publication Status: Online-Only, [RefSeq, PubMed]; Our family- and population-based data both suggest that the RDH8 gene is unlikely to be associated with high myopia in Chinese GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Progression of retinal degeneration in Rdh8-deficient Abca4-deficient mice is affected by differential vulnerability of rods and cones to light., [RefSeq, PubMed]; Retinol dehydrogenase with a clear preference for NADP. Converts all-trans-retinal to all-trans-retinol. May play a role in the regeneration of visual pigment at high light intensity (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Targeted capture sequencing identifies genetic variations of GRK4 and RDH8 in Han Chinese with essential hypertension in Xinjiang. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the short-chain dehydrogenase/reductase family. The encoded protein catalyzes the reduction of all-trans-retinal to all-trans-retinol, the first reaction step of the rhodopsin regeneration pathway. This enzymatic reaction is the rate-limiting step in the visual cycle. [provided by RefSeq, Feb 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": "Q9H838", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.21", "type": "external" }, { "id": "1.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.372", "type": "external" } ], "go_molecular_function": "GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0004303 estradiol 17-beta-dehydrogenase [NAD(P)+] activity;GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0042572 retinol metabolic process;GO:0007601 visual perception;GO:0006694 steroid biosynthetic process;GO:0006703 estrogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9NYR8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14766-1", "uniprot_id": [ { "id": "LTBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14766", "type": "external" } ], "mass": 186796.0, "length": 1721, "protein_name": "Latent-transforming growth factor beta-binding protein 1", "gene_name": "LTBP1", "organism": "Human", "refseq_name": "latent-transforming growth factor beta-binding protein 1 isoform 4 precursor", "refseq_ac": [ { "id": "NP_001159736", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159736", "type": "external" } ], "gene_names_uniprotkb": "LTBP1", "gene_names_refseq": "ARCL2E; LTBP1", "protein_names_uniprotkb": "Latent-transforming growth factor beta-binding protein 1; LTBP-1; TGF-beta1-BP-1; Transforming growth factor beta-1-binding protein 1", "protein_names_refseq": "LTBP-1; TGF-beta1-BP-1; latent-transforming growth factor beta-binding protein 1 isoform 4 precursor; transforming growth factor beta-1-binding protein 1", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224); glomerulonephritis (Disease Ontology:DOID:2921); cutis laxa (Disease Ontology:DOID:3144); cutis laxa, autosomal recessive, type 2E (MONDO:MONDO:0030337)", "pathway": " (hsa:4052); (R-HSA-2129379); (R-HSA-2173789); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 5, "publication_count": 162, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10025398;10026136;10077652;10218588;10424889;10512690;10544250;10614670;10646116;10677208;10681634;10743502;10810289;10898936;10912521;10930463;10951195;10990447;11100470;11104663;11141505;11158056;11237011;11250653;11264294;11316783;11390472;11522292;11606061;11739083;11751371;11788658;11970960;12241545;12358597;12379487;12415008;12429738;12466191;12482908;12810533;12904166;1333888;1370451;1383255;1400330;14607119;14701737;15126567;15184403;15308688;15350224;15469690;15485880;15525596;15564041;15567420;15642270;16157329;17047378;1708799;17249697;17293099;17312271;17324935;17985932;18058229;18088087;18339631;18469808;18677313;19720988;2022183;20625381;21646718;22278742;23090970;23290524;23481700;2350783;23584533;24190977;2476804;2479552;25576301;25813380;26091039;26154972;26992070;27339457;27846572;29391424;29557506;29671580;29741879;30459171;31611695;31844290;32157095;32350084;32488085;32938616;33592498;33936100;33968037;33991472;34087483;34357683;34411563;35051231;35251023;35452817;35561310;35580925;36241641;36629522;37074911;37217939;37938771;38237698;38266179;38358412;38665916;7500359;7519608;7523391;7525263;7525634;7525824;7527330;7534784;7538844;7543116;7588299;7683646;7689487;7693660;7737999;8047140;8242743;8537398;8617200;8781553;8817670;8894645;8939931;8947046;8964575;8980228;9233797;9311995;9346966;9497324;9709957;9725916;9733769;9786878;9865696;9922210", "class_list": "", "function": "A prognostic marker LTBP1 is associated with epithelial mesenchymal transition and can promote the progression of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Immune suppressive signaling regulated by latent transforming growth factor beta binding protein 1 promotes metastasis in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space (PubMed:2022183, PubMed:8617200, PubMed:8939931). Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta (PubMed:15184403, PubMed:8617200, PubMed:8939931). Outcompeted by LRRC32/GARP for binding to LAP regulatory chain of TGF-beta (PubMed:22278742)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; LTBP1 promotes fibrillin incorporation into the extracellular matrix., [RefSeq, PubMed]; Targeted Mass Spectrometry of Longitudinal Patient Sera Reveals LTBP1 as a Potential Surveillance Biomarker for High-Grade Serous Ovarian Carcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [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": 6, "reported_o_glycosites": 10, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 61, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 61, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 61, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 7, "reported_phosphosites": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 141, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 82, "disease_count": 4, "glyco_site_count": 71, "binding_glycan_count": 0, "secondary_ac_list": "A1L3V1;P22064;Q53SD8;Q53SF3;Q53SG1;Q59HF7;Q8TD95", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005509 calcium ion binding;GO:0005024 transforming growth factor beta receptor activity;GO:0050431 transforming growth factor beta binding;GO:0050436 microfibril binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0001527 microfibril", "go_biological_process": "GO:0035583 sequestering of TGFbeta in extracellular matrix;GO:0035592 establishment of protein localization to extracellular region;GO:0071692 protein localization to extracellular region", "synthesized_glycan_count": 0, "hit_score": 31.4, "record_id": "Q14766-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96F15-1", "uniprot_id": [ { "id": "GIMA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96F15", "type": "external" } ], "mass": 34846.0, "length": 307, "protein_name": "GTPase IMAP family member 5", "gene_name": "GIMAP5", "organism": "Human", "refseq_name": "GTPase IMAP family member 5", "refseq_ac": [ { "id": "NP_060854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060854", "type": "external" } ], "gene_names_uniprotkb": "GIMAP5; IAN4L1; IAN5; IMAP3", "gene_names_refseq": "GIMAP5; HIMAP3; IAN-5; IAN4L1; IAN4; IAN5; IMAP3; IROD; NCPH2", "protein_names_uniprotkb": "GTPase IMAP family member 5; IAN-5; Immune-associated nucleotide-binding protein 5; Immunity-associated nucleotide 4-like 1 protein; Immunity-associated nucleotide 5 protein; Immunity-associated protein 3; hIAN5", "protein_names_refseq": "GTPase IMAP family member 5; immune associated nucleotide 4 like 1; immune-associated nucleotide-binding protein 5; immunity associated protein 3; immunity-associated nucleotide 5 protein; inhibitor of radiation- and OA-induced apoptosis, Irod/Ian5", "tax_id": 9606, "disease": "portal hypertension (Disease Ontology:DOID:10762); lymphopenia (Disease Ontology:DOID:614); type 1 diabetes mellitus (Disease Ontology:DOID:9744); portal hypertension, noncirrhotic, 2 (MONDO:MONDO:0030397)", "pathway": " (hsa:55340)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "14724691;16509771;21487483;25944983;27667392;29382851;29493099;29557506;31217245;31844290;32350084;32983136;33956074;34357683;34561969;35051231;35154160;36484389;40914422", "class_list": "", "function": "GIMAP5 loss-of-function mutation results in T cell deficiencies. Publication Status: Online-Only, [RefSeq, PubMed]; Gimap5 has a role in maintaining peripheral tolerance and T cell homeostasis in the gut [review] Review article, [RefSeq, PubMed]; Gimap5 promoted RSV degradation through interaction with M6PR., [RefSeq, PubMed]; Plays a role in T lymphocyte development and the optimal generation of CD4/CD8 double-positive thymocytes (By similarity). Inhibitor of GSK3A, possibly by sequestering GSK3A in cytoplasmic vesicles and impairing its translocation to the nucleus. Consequently, impairs GSK3A-dependent transcriptional program and regulation of the DNA damage response occurring during T cells proliferation (PubMed:29382851). Required for the survival of peripheral T cells, natural killer (NK) and NK T-cell development and the maintenance of normal liver function (By similarity). May promote the survival of mature T lymphocytes upon cytokine withdrawal (By similarity). May regulate Ca(2+) homeostasis by modulating lysosomal Ca(2+) stores, preventing its accumulation in the absence of T cell activation (By similarity). May play a role in mitochondrial DNA segregation in hematopoietic tissues (By similarity). Is a regulator of liver endothelial cell homeostasis (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; These data,demonstrating the downregulation of the mRNA and protein expression levels of GIMAP5 and GIMAP6 in the tumor tissues and blood of patients with HCC, suggested the involvement of GIMAP5 and GIMAP6 in the pathogenesis of HCC, and indicate their possible use as diagnostic markers for HCC., [RefSeq, PubMed]; This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. This gene encodes an antiapoptotic protein that functions in T-cell survival. Polymorphisms in this gene are associated with systemic lupus erythematosus. Read-through transcription exists between this gene and the neighboring upstream GIMAP1 (GTPase, IMAP family member 1) 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DWZ5;Q6IA75;Q96NE4;Q9NUK9", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0032585 multivesicular body membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96F15-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQF2-1", "uniprot_id": [ { "id": "JIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQF2", "type": "external" } ], "mass": 77524.0, "length": 711, "protein_name": "C-Jun-amino-terminal kinase-interacting protein 1", "gene_name": "MAPK8IP1", "organism": "Human", "refseq_name": "C-Jun-amino-terminal kinase-interacting protein 1", "refseq_ac": [ { "id": "NP_005447", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005447", "type": "external" } ], "gene_names_uniprotkb": "MAPK8IP1; IB1; JIP1; PRKM8IP", "gene_names_refseq": "IB1; JIP-1; JIP1; MAPK8IP1; PRKM8IP", "protein_names_uniprotkb": "C-Jun-amino-terminal kinase-interacting protein 1; IB-1; Islet-brain 1; JIP-1; JNK MAP kinase scaffold protein 1; JNK-interacting protein 1; Mitogen-activated protein kinase 8-interacting protein 1", "protein_names_refseq": "C-Jun-amino-terminal kinase-interacting protein 1; IB-1; JNK MAP kinase scaffold protein 1; JNK-interacting protein 1; PRKM8 interacting protein; islet-brain 1", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:9479)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10574993;10700186;11147798;11237011;11238452;11726277;11912189;12756254;12937412;14507925;15911620;15998799;16195223;17709393;18286207;23897889;25576301;26375851;28657654;29557506;31154438;31844290;31848261;32157095;33592498;33981976;35051231;35092815;35494241;35580925;36902422;39013462;9933567", "class_list": "", "function": "Dual Role of Mitogen-Activated Protein Kinase 8 Interacting Protein-1 in Inflammasome and Pancreatic beta-Cell Function. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling., [RefSeq, PubMed]; Structural basis of homodimerization of the JNK scaffold protein JIP2 and its heterodimerization with JIP1., [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. Required for JNK activation in response to excitotoxic stress. Cytoplasmic MAPK8IP1 causes inhibition of JNK-regulated activity by retaining JNK in the cytoplasm and inhibiting JNK phosphorylation of c-Jun. May also participate in ApoER2-specific reelin signaling. Directly, or indirectly, regulates GLUT2 gene expression and beta-cell function. Appears to have a role in cell signaling in mature and developing nerve terminals. May function as a regulator of vesicle transport, through interactions with the JNK-signaling components and motor proteins. Functions as an anti-apoptotic protein and whose level seems to influence the beta-cell death or survival response. Acts as a scaffold protein that coordinates with SH3RF1 in organizing different components of the JNK pathway, including RAC1 or RAC2, MAP3K11/MLK3 or MAP3K7/TAK1, MAP2K7/MKK7, MAPK8/JNK1 and/or MAPK9/JNK2 into a functional multiprotein complex to ensure the effective activation of the JNK signaling pathway. Regulates the activation of MAPK8/JNK1 and differentiation of CD8(+) T-cells., [UniProtKB, UniProtKB]; This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 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": 41, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 23, "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": "D3DQP4;O43407", "ec_number_list": [], "go_molecular_function": "GO:0031434 mitogen-activated protein kinase kinase binding;GO:0004860 protein kinase inhibitor activity;GO:0019894 kinesin binding;GO:0005078 MAP-kinase scaffold activity;GO:0008432 JUN kinase binding", "go_cellular_component": "GO:0044302 dentate gyrus mossy fiber;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:2000564 regulation of CD8-positive, alpha-beta T cell proliferation;GO:0043066 negative regulation of apoptotic process;GO:0046330 positive regulation of JNK cascade;GO:0007254 JNK cascade;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9UQF2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P499-1", "uniprot_id": [ { "id": "NPAL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P499", "type": "external" } ], "mass": 44742.0, "length": 406, "protein_name": "NIPA-like protein 3", "gene_name": "NIPAL3", "organism": "Human", "refseq_name": "NIPA-like protein 3 isoform a", "refseq_ac": [ { "id": "NP_001309783", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309783", "type": "external" } ], "gene_names_uniprotkb": "NIPAL3; NPAL3", "gene_names_refseq": "DJ462O23.2; NIPAL3; NPAL3; SLC57A5", "protein_names_uniprotkb": "NIPA-like protein 3", "protein_names_refseq": "NIPA-like protein 3 isoform a; NIPA-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:57185); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15804357;17166836;18057121;18347014;1840603;18930737;19262752;1955075;19690332;19717468;19738379;22119785;22649030;23169667;23481700;24715725;24725410;24790029;26620797;26635246;26824658;27102039;29242379;29557506;29769354;30779550;31154438;31844290;32488085;32897882;32938616;33968037;35051231;35580925;36010968;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Study demonstrates that both human NPAL3 and mouse NPAL3 are ubiquitously expressed and encode highly conserved proteins Erratum:[Cytogenet Genome Res. 2009;125(4):285. Hoelter, S M [corrected to Holter, S M]; Aguilar, A [corrected to Aguilar-Pimentel, A]; Gailus-Durne, V [corrected to Gailus-Durner, V]; Busch, D [corrected to Busch, D H]], [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": 1, "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": "A2A298;Q6MZT9;Q9BVE6", "ec_number_list": [], "go_molecular_function": "GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015693 magnesium ion transport", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q6P499-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRG2-1", "uniprot_id": [ { "id": "SH23A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRG2", "type": "external" } ], "mass": 63093.0, "length": 576, "protein_name": "SH2 domain-containing protein 3A", "gene_name": "SH2D3A", "organism": "Human", "refseq_name": "SH2 domain-containing protein 3A isoform 1", "refseq_ac": [ { "id": "NP_005481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005481", "type": "external" } ], "gene_names_uniprotkb": "SH2D3A; NSP1; PRO201", "gene_names_refseq": "NSP1; SH2D3A", "protein_names_uniprotkb": "SH2 domain-containing protein 3A; Novel SH2-containing protein 1", "protein_names_refseq": "SH2 domain-containing protein 3A isoform 1; SH2 domain-containing protein 3A; novel SH2-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10045)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10187783;11237011;12975309;16959974;17270363;17427198;18669648;18767875;19413330;19415658;19651622;19664994;20068231;21406692;23186163;25645385;26992070;27920218;28832583;28834231;29242379;29493099;31844290;32897882;33141586;33298915;33912179;33936100;33968037;33981976;34171305;34211107;35051231;36534661;37821106", "class_list": "", "function": "In vitro reconstitution of SARS-CoV-2 Nsp1-induced mRNA cleavage reveals the key roles of the N-terminal domain of Nsp1 and the RRM domain of eIF3g., [RefSeq, PubMed]; May play a role in JNK activation., [UniProtKB]; NSP1 and BCAR3 are more highly expressed than SH2D3C (SHEP1) in breast cancer cells, and the expression patterns suggest differential roles for the three genes during breast cancer progression., [RefSeq, PubMed]; NSP1 overexpression did not induce anti-estrogen resistance in breast tumor cell lines., [RefSeq, PubMed]; Nsp1 proteins of human coronaviruses HCoV-OC43 and SARS-CoV2 inhibit stress granule formation. 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": 9, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9R6;B4DRS7;Q9Y2X4", "ec_number_list": [], "go_molecular_function": "GO:0001784 phosphotyrosine residue binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "", "go_biological_process": "GO:0007254 JNK cascade;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9BRG2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NR46-1", "uniprot_id": [ { "id": "SHLB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NR46", "type": "external" } ], "mass": 43974.0, "length": 395, "protein_name": "Endophilin-B2", "gene_name": "SH3GLB2", "organism": "Human", "refseq_name": "endophilin-B2 isoform a", "refseq_ac": [ { "id": "NP_001273974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273974", "type": "external" } ], "gene_names_uniprotkb": "SH3GLB2; KIAA1848; PP578", "gene_names_refseq": "PP6569; PP9455; RRIG1; SH3GLB2", "protein_names_uniprotkb": "Endophilin-B2; SH3 domain-containing GRB2-like protein B2", "protein_names_refseq": "SH3 domain-containing GRB2-like protein B2; SH3-containing protein SH3GLB2; SH3-domain GRB2-like endophilin B2; endophilin-B2 isoform a; endophilin-B2; retinoid receptor-induced gene 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56904)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11161816;11237011;15498874;18303116;22424782;23186163;23301498;23481700;24715725;25418920;25576301;25880248;26154972;26811146;26929215;26992070;27600516;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;30315122;30429286;30524438;31217245;31844290;32157095;32387766;32502341;32897882;32938616;33141586;33214551;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34561969;35051231;35138101;35580925;36010968;36241641;36284347;38665916;40914422", "class_list": "", "function": "Identified a nonmutated HLA-A2-binding epitope in the human ortholog SH3GLB2, which primed T cells from healthy HLA-A2(+) 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": 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": "A6NC47;A8MPS4;Q8WY61;Q96JH9", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0061024 membrane organization", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9NR46-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRF2-1", "uniprot_id": [ { "id": "SH2B1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRF2", "type": "external" } ], "mass": 79366.0, "length": 756, "protein_name": "SH2B adapter protein 1", "gene_name": "SH2B1", "organism": "Human", "refseq_name": "SH2B adapter protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001139267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139267", "type": "external" } ], "gene_names_uniprotkb": "SH2B1; KIAA1299; SH2B", "gene_names_refseq": "PSM; SH2B1; SH2B", "protein_names_uniprotkb": "SH2B adapter protein 1; PSM; Pro-rich, PH and SH2 domain-containing signaling mediator; SH2 domain-containing protein 1B", "protein_names_refseq": "SH2 domain-containing protein 1B; SH2 domain-containing putative adapter SH2-B; SH2-B signaling protein; SH2B adapter protein 1 isoform 1; pro-rich, PH and SH2 domain-containing signaling mediator", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 220-kb (Disease Ontology:DOID:0060398)", "pathway": " (hsa:25970); (R-HSA-983231)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "10473609;10594240;11042108;11062261;11237011;11242053;11744692;11751636;11751854;11827956;11895428;11950885;12032298;12134158;12427746;14565960;15020713;15247287;15710388;15767667;16054028;1630448;16569669;17027967;17196961;17228025;17471236;18220336;18669648;19293402;20530532;20627800;218813;24129315;24715725;25418920;25576301;26845023;27600516;27846572;27920218;28904123;29242379;29393594;29493099;29632046;29769354;30315122;31154438;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33356989;33717175;33912179;33968037;3409321;34689140;34932366;35051231;35580925;36241641;36436143;37586323;38253038;39034913;8662638;8816476;9065479;9230307;9326583;9331217;9422515;9498552;9694882;9742218;9927674", "class_list": "", "function": "Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways mediated by Janus kinase (JAK) and receptor tyrosine kinases, including the receptors of insulin (INS), insulin-like growth factor 1 (IGF1), nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), glial cell line-derived neurotrophic factor (GDNF), platelet-derived growth factor (PDGF) and fibroblast growth factors (FGFs). In growth hormone (GH) signaling, autophosphorylated ('Tyr-813') JAK2 recruits SH2B1, which in turn is phosphorylated by JAK2 on tyrosine residues. These phosphotyrosines form potential binding sites for other signaling proteins. GH also promotes serine/threonine phosphorylation of SH2B1 and these phosphorylated residues may serve to recruit other proteins to the GHR-JAK2-SH2B1 complexes, such as RAC1. In leptin (LEP) signaling, binds to and potentiates the activation of JAK2 by globally enhancing downstream pathways. In response to leptin, binds simultaneously to both, JAK2 and IRS1 or IRS2, thus mediating formation of a complex of JAK2, SH2B1 and IRS1 or IRS2. Mediates tyrosine phosphorylation of IRS1 and IRS2, resulting in activation of the PI 3-kinase pathway. Acts as a positive regulator of NGF-mediated activation of the Akt/Forkhead pathway; prolongs NGF-induced phosphorylation of AKT1 on 'Ser-473' and AKT1 enzymatic activity. Enhances the kinase activity of the cytokine receptor-associated tyrosine kinase JAK2 and of other receptor tyrosine kinases, such as FGFR3 and NTRK1. For JAK2, the mechanism seems to involve dimerization of both, SH2B1 and JAK2. Enhances RET phosphorylation and kinase activity. Isoforms seem to be differentially involved in IGF1 and PDGF-induced mitogenesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease., [RefSeq, PubMed]; Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion., [RefSeq, PubMed]; Hsa_circ_0075960 Serves as a Sponge for miR-361-3p/SH2B1 in Endometrial Carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SH2-B or APS homodimerization and SH2-B/APS heterodimerization thus provide direct mechanisms for activating and inhibiting Janus kinase 2, [RefSeq, PubMed]; SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort., [RefSeq, PubMed]; The Association between Obesity Susceptibility and Polymorphisms of MC4R, SH2B1, and NEGR1 in Tibetans., [RefSeq, PubMed]; This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 9, "reported_glycation": 0, "reported_snv": 14, "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": "A8K2R7;Q96FK3;Q96SX3;Q9NRF1;Q9NRF3;Q9P2P7;Q9Y3Y3", "ec_number_list": [], "go_molecular_function": "GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:2000278 regulation of DNA biosynthetic process;GO:0035556 intracellular signal transduction;GO:0045840 positive regulation of mitotic nuclear division;GO:0060391 positive regulation of SMAD protein signal transduction;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9NRF2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A44-1", "uniprot_id": [ { "id": "SPSB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A44", "type": "external" } ], "mass": 30179.0, "length": 273, "protein_name": "SPRY domain-containing SOCS box protein 4", "gene_name": "SPSB4", "organism": "Human", "refseq_name": "SPRY domain-containing SOCS box protein 4", "refseq_ac": [ { "id": "NP_543138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543138", "type": "external" } ], "gene_names_uniprotkb": "SPSB4; SSB4", "gene_names_refseq": "SPSB4; SSB-4; SSB4", "protein_names_uniprotkb": "SPRY domain-containing SOCS box protein 4; SSB-4", "protein_names_refseq": "SPRY domain-containing SOCS box protein 4; SPRY domain-containing SOCS box protein SSB-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:92369); (R-HSA-8951664); (R-HSA-983168)", "pathway_count": 3, "publication_count": 139, "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;15601820;15601839;15652483;15688063;15694336;15713673;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;20561531;21199876;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;26392558;26460955;26632597;26906416;27030794;27222660;27565346;28115426;28931592;29153394;30379171;30610225;31607207;32005965;32284348;32938616;33444648;34561969;36010968;9380723;9668046;9790970;9887101;9891082", "class_list": "", "function": "Our results indicate that the paralogs Spsb1 and Spsb4, but not Spsb2 and Spsb3, can interact with and facilitate RevErbalpha ubiquitination and degradation and regulate circadian clock periodicity., [RefSeq, PubMed]; Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199876). Negatively regulates nitric oxide (NO) production and limits cellular toxicity in activated macrophages by mediating the ubiquitination and proteasomal degradation of NOS2 (PubMed:21199876). Acts as a bridge which links NOS2 with the ECS E3 ubiquitin ligase complex components ELOC and CUL5 (PubMed:21199876). Diminishes EphB2-dependent cell repulsive responses by mediating the ubiquitination and degradation of EphB2/CTF2 (PubMed:28931592). Regulates cellular clock function by mediating the ubiquitin/proteasome-dependent degradation of the circadian transcriptional repressor NR1D1 (PubMed:26392558)., [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0019005 SCF 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:0042752 regulation of circadian rhythm;GO:0048511 rhythmic process", "synthesized_glycan_count": 0, "hit_score": 14.2, "record_id": "Q96A44-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13247-1", "uniprot_id": [ { "id": "SRSF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13247", "type": "external" } ], "mass": 39587.0, "length": 344, "protein_name": "Serine/arginine-rich splicing factor 6", "gene_name": "SRSF6", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 6", "refseq_ac": [ { "id": "NP_006266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006266", "type": "external" } ], "gene_names_uniprotkb": "SRSF6; SFRS6; SRP55", "gene_names_refseq": "B52; HEL-S-91; SFRS6; SRP55; SRSF6", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 6; Pre-mRNA-splicing factor SRP55; Splicing factor, arginine/serine-rich 6", "protein_names_refseq": "SR splicing factor 6; epididymis secretory protein Li 91; pre-mRNA-splicing factor SRP55; serine/arginine-rich splicing factor 6; splicing factor, arginine/serine-rich, 55 kDa", "tax_id": 9606, "disease": "spermatogenic failure 3 (Disease Ontology:DOID:0070168); Huntington's disease (Disease Ontology:DOID:12858); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); lung cancer (Disease Ontology:DOID:1324); colon adenocarcinoma (Disease Ontology:DOID:234); skin cancer (Disease Ontology:DOID:4159); clear cell renal cell carcinoma (Disease Ontology:DOID:4467)", "pathway": " (hsa:6431); (R-HSA-159236); (R-HSA-72163); (R-HSA-72165); (R-HSA-72187); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 266, "publication_id_list": "10207048;10228171;10323864;10489353;10668806;10669729;10757789;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11333026;11579093;11607023;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12549914;12871933;14519844;14625303;14713954;14749727;14762106;15009664;15037765;15084397;15302935;15565158;1577277;15998806;16314397;16314458;16809785;16959974;17000901;17081983;17095540;17128255;17190602;17287340;17322306;17332742;17606899;17924679;17940139;17984224;18212344;18288197;18322460;18364396;18411249;18423201;18452278;18593880;18669648;18767875;18957205;19007248;19052544;19103666;19165350;19217410;19413330;19536130;19651622;19664994;19664995;19690332;19691289;19836239;20058876;20068231;20129943;20166139;20423332;20573985;20695905;20844015;20980672;21295486;21406692;21536652;2176635;21911577;21947206;22110043;22121020;22207203;22365833;22767602;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23301498;23345524;23826332;23874216;24076191;24149845;24196718;24244187;24275569;24304693;24316715;24407421;24440982;24448447;24714562;24737827;24914973;24981863;2524422;25301780;25301781;25418920;25555158;25576301;2558966;25662211;25836925;25892735;26092250;26385511;26420826;26728094;26969736;26992070;27108190;27377154;27397612;27459055;27510544;27600516;27683217;27846572;27869121;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28510447;28514659;28781166;28832583;28834231;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29508533;29557506;29632046;29632711;2963332;29769354;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30429286;30524438;30599162;30705154;30728453;30765414;30779550;30975767;31154438;31409651;31844290;31848261;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32494006;32502341;32816001;32897882;32938616;32983136;33123756;33141586;33177556;33214551;33243851;33446560;33465208;33968037;33981976;34019948;34301950;34614409;34665708;34725712;34822310;34932366;35051231;35154160;35177536;35215846;35251023;35318648;35385551;35561310;35580925;36620874;36807382;37217939;3757028;37938771;38665916;40596516;7556075;8352591;8566756;8608946;8835860;9016565;9242493;9409616;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "A candidate gene study reveals association between a variant of the SRp55 splicing factor gene and systemic sclerosis., [RefSeq, PubMed]; DRAK2 aggravates nonalcoholic fatty liver disease progression through SRSF6-associated RNA alternative splicing., [RefSeq, PubMed]; Genetic compensation response could exist in colorectal cancer: UPF3A upregulates the oncogenic homologue gene SRSF3 expression corresponding to SRSF6 to promote colorectal cancer metastasis., [RefSeq, PubMed]; Plays a role in constitutive splicing and modulates the selection of alternative splice sites. Plays a role in the alternative splicing of MAPT/Tau exon 10. Binds to alternative exons of TNC pre-mRNA and promotes the expression of alternatively spliced TNC. Plays a role in wound healing and in the regulation of keratinocyte differentiation and proliferation via its role in alternative splicing., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Poison cassette exon splicing of SRSF6 regulates nuclear speckle dispersal and the response to hypoxia., [RefSeq, PubMed]; The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and has been shown to bind with and modulate another member of the family, SFRS12. Alternative splicing results in multiple transcript variants. In addition, two pseudogenes, one on chromosome 17 and the other on the X chromosome, have been found for this gene.[provided by RefSeq, Sep 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": 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": 21, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 18, "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": "B7Z6J3;E1P5W6;Q13244;Q13245;Q96J06;Q9UJB8;Q9Y3N7", "ec_number_list": [], "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0045617 negative regulation of keratinocyte differentiation;GO:0061041 regulation of wound healing;GO:0032868 response to insulin;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0006376 mRNA splice site recognition", "synthesized_glycan_count": 0, "hit_score": 27.2, "record_id": "Q13247-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRW7-1", "uniprot_id": [ { "id": "VPS45_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRW7", "type": "external" } ], "mass": 65077.0, "length": 570, "protein_name": "Vacuolar protein sorting-associated protein 45", "gene_name": "VPS45", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 45 isoform 2", "refseq_ac": [ { "id": "NP_001266282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001266282", "type": "external" } ], "gene_names_uniprotkb": "VPS45; VPS45A; VPS45B", "gene_names_refseq": "H1VPS45; H1; SCN5; VPS45A; VPS45B; VPS45; VPS54A; VSP45A; VSP45", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 45; h-VPS45; hlVps45", "protein_names_refseq": "leucocyte vacuolar protein sorting 45; vacuolar protein sorting 45A; vacuolar protein sorting-associated protein 45 isoform 2; vacuolar protein sorting-associated protein 45", "tax_id": 9606, "disease": "severe congenital neutropenia 5 (Disease Ontology:DOID:0112132)", "pathway": " (hsa:11311); (R-HSA-6811438); (R-HSA-9754560); (R-HSA-983231)", "pathway_count": 4, "publication_count": 163, "publication_id_list": "10189370;10404641;10652308;10652516;11042108;11062261;11237011;11242053;11718716;11744692;11748249;11751636;11788822;11895428;11950885;12011112;12032298;12134158;12383348;12427746;12429822;15020713;15247287;15504911;15710388;15718469;15728195;15758030;16054028;1630448;17027967;17196961;17274799;18077418;18086915;18256213;18451304;18512783;19164740;19293402;19536132;19715559;20163571;20530532;20627800;20874812;21807881;218813;22013193;22188167;22706990;23091056;23186163;23239882;23378023;23462996;23599270;23738510;23839779;23936529;23940353;24119662;24275569;24366607;24714562;25418920;25576301;25708460;26154972;26728094;26811146;26845023;26992070;27600516;27846572;27862975;27920218;28228285;28467828;28514659;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29557506;29786170;30315122;30410026;30429286;30524438;30573663;30779550;30833945;31092671;31154438;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32590190;32897882;32938616;32983136;33141586;33298915;33392160;33422265;33512427;33592498;33691108;33717175;33912179;33936100;33947832;33966045;33968037;33981976;34087483;3409321;34171305;34357683;34386498;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37938771;8636227;8662638;8816476;8945478;8996080;9065479;9230307;9244307;9326583;9331217;9422515;9476900;9510256;9653114;9707577;9915833;9927674", "class_list": "", "function": "Mammalian VPS45 orchestrates trafficking through the endosomal system., [RefSeq, PubMed]; May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SPI1-induced upregulation of lncRNA SNHG6 promotes non-small cell lung cancer via miR-485-3p/VPS45 axis., [RefSeq, PubMed]; Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found 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": 5, "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": "D3DUZ9;F5H8K1;Q15715;Q53FR8;Q5T4P6;Q9Y4Z6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0010008 endosome membrane;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0016192 vesicle-mediated transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "Q9NRW7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBN7-1", "uniprot_id": [ { "id": "RDH13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBN7", "type": "external" } ], "mass": 35932.0, "length": 331, "protein_name": "Retinol dehydrogenase 13", "gene_name": "RDH13", "organism": "Human", "refseq_name": "retinol dehydrogenase 13 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001139443", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139443", "type": "external" } ], "gene_names_uniprotkb": "RDH13; PRO1430; PSEC0082; SDR7C3", "gene_names_refseq": "RDH13; SDR7C3", "protein_names_uniprotkb": "Retinol dehydrogenase 13; 1.1.1.300; Short chain dehydrogenase/reductase family 7C member 3", "protein_names_refseq": "retinol dehydrogenase 13 (all-trans and 9-cis); retinol dehydrogenase 13 (all-trans/9-cis); retinol dehydrogenase 13 isoform 1 precursor; short chain dehydrogenase/reductase family 7C member 3", "tax_id": 9606, "disease": "Leber congenital amaurosis (Disease Ontology:DOID:14791)", "pathway": " (hsa:112724); (R-HSA-5365859)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10329026;10369264;10839978;11007799;11237011;11245473;12036956;12226107;12680773;12975309;14532297;14596915;16303743;18039331;18805086;1889753;20801113;20877624;21529158;21621639;21851338;22019272;23186163;23220587;26154972;26992070;27090790;28063628;28218747;28510447;28904123;2935875;29393594;29557506;29632046;3013304;31611695;31844290;32157095;32265295;32350084;32387766;33141586;33298915;33968037;34087483;35251023;36241641;40914422;8493914;9228021;9677409;9705317", "class_list": "glycogene", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; RDH13 exhibits a wide tissue distribution and, by contrast with other members of the RDH11-like group of short-chain dehydrogenases/reductases, is a mitochondrial rather than a microsomal protein., [RefSeq, PubMed]; Retinol dehydrogenase with a clear preference for NADP. Oxidizes all-trans-retinol, but seems to reduce all-trans-retinal with much higher efficiency (PubMed:18039331). Has no activity toward steroids (PubMed:18039331)., [UniProtKB, PubMed]; This gene encodes a mitochondrial short-chain dehydrogenase/reductase, which catalyzes the reduction and oxidation of retinoids. The encoded enzyme may function in retinoic acid production and may also protect the mitochondria against oxidative stress. Alternatively spliced transcript variants have been described. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 501, "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": "Q6UX79;Q96G88", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.21", "type": "external" }, { "id": "1.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.372", "type": "external" } ], "go_molecular_function": "GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0042574 retinal metabolic process;GO:0010842 retina layer formation;GO:0042462 eye photoreceptor cell development", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8NBN7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ISS4-1", "uniprot_id": [ { "id": "LAIR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ISS4", "type": "external" } ], "mass": 16280.0, "length": 152, "protein_name": "Leukocyte-associated immunoglobulin-like receptor 2", "gene_name": "LAIR2", "organism": "Human", "refseq_name": "leukocyte-associated immunoglobulin-like receptor 2 isoform a precursor", "refseq_ac": [ { "id": "NP_002279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002279", "type": "external" } ], "gene_names_uniprotkb": "LAIR2; CD306", "gene_names_refseq": "CD306; LAIR2", "protein_names_uniprotkb": "Leukocyte-associated immunoglobulin-like receptor 2; LAIR-2", "protein_names_refseq": "LAIR-2; leukocyte-associated Ig-like receptor-2; leukocyte-associated immunoglobulin-like receptor 2 isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:3904); (R-HSA-198933)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10229813;10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;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;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;25880248;26154972;26284469;26300885;27920218;28904123;32357974;33298915;33841428;33912179;34185709;35580925;36593237;37422711;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Association of LncRNA-PAX8-AS1 and LAIR-2 polymorphisms along with their expression with clinical and subclinical hypothyroidism. Publication Status: Online-Only, [RefSeq, PubMed]; Dissecting T-cell heterogeneity in esophageal squamous cell carcinoma reveals the potential role of LAIR2 in antitumor immunity., [RefSeq, PubMed]; LAIR-2 prevents binding of human LAIR-1 to collagens and LAIR-1 cross-linking in vitro, suggesting that the protein has an immunoregulatory function in vivo., [RefSeq, PubMed]; PNOC Expressed by B Cells in Cholangiocarcinoma Was Survival Related and LAIR2 Could Be a T Cell Exhaustion Biomarker in Tumor Microenvironment: Characterization of Immune Microenvironment Combining Single-Cell and Bulk Sequencing Technology. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunoglobulin superfamily. It was identified by its similarity to leukocyte-associated immunoglobulin-like receptor 1, a membrane-bound receptor that modulates innate immune response. The protein encoded by this locus is a soluble receptor that may play roles in both inhibition of collagen-induced platelet aggregation and vessel formation during placental implantation. This gene maps to a region of 19q13.4, termed the leukocyte receptor cluster, which contains 29 genes in the immunoglobulin superfamily. Alternatively spliced transcript variants have been described for this gene. [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": 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": "Q6PEZ4", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0140375 immune receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q6ISS4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBX5-1", "uniprot_id": [ { "id": "FBLN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBX5", "type": "external" } ], "mass": 50180.0, "length": 448, "protein_name": "Fibulin-5", "gene_name": "FBLN5", "organism": "Human", "refseq_name": "fibulin-5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_006320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006320", "type": "external" } ], "gene_names_uniprotkb": "FBLN5; DANCE; PRO210", "gene_names_refseq": "ADCL2; ARCL1A; ARMD3; CMT1H; DANCE; EVEC; FBLN5; FIBL-5; HNARMD; UP50", "protein_names_uniprotkb": "Fibulin-5; Dance; Developmental arteries and neural crest EGF-like protein; FIBL-5; UP50; Urine p50 protein", "protein_names_refseq": "developmental arteries and neural crest EGF-like protein; embryonic vascular EGF-like repeat-containing protein; fibulin-5 isoform 1 precursor; testis tissue sperm-binding protein Li 75n; urine p50 protein", "tax_id": 9606, "disease": "autosomal recessive cutis laxa type IA (Disease Ontology:DOID:0070135); autosomal dominant cutis laxa 2 (Disease Ontology:DOID:0070136); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); age related macular degeneration (Disease Ontology:DOID:10871); transient cerebral ischemia (Disease Ontology:DOID:224); cutis laxa (Disease Ontology:DOID:3144); vascular dementia (Disease Ontology:DOID:8725); macular degeneration, age-related, 3 (MONDO:MONDO:0012145); Charcot-Marie-Tooth disease, demyelinating, IIA 1H (MONDO:MONDO:0030689)", "pathway": " (hsa:10516); (R-HSA-1566948); (R-HSA-2129379)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10025398;10198291;10424889;10428823;10544250;10646116;10930463;10936461;11237011;11481325;11970960;12189163;12358597;12415008;12429738;12618961;12975309;1400330;14701737;15269314;15790312;16303743;16652333;16691202;16906757;17035250;1708799;17255108;17324935;18185537;18339631;19194475;19570982;19617354;20007835;20599547;21576112;21646718;23090970;23328402;23584533;24190977;29741879;30459171;31848261;3232707;34411563;35051231;35543375;36794549;37074911;37608663;37864183;38665916;6123066;7500359;7534784;8617364;9725916", "class_list": "", "function": "Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (PubMed:18185537). Stabilizes and organizes elastic fibers in the skin, lung and vasculature (By similarity). Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:10428823). May act as an adapter that mediates the interaction between FBN1 and ELN (PubMed:17255108)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; FBLN5 was Regulated by PRDM9, and Promoted Senescence and Osteogenic Differentiation of Human Periodontal Ligament Stem Cells., [RefSeq, PubMed]; Genetic screening for anticancer genes highlights FBLN5 as a synthetic lethal partner of MYC. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome., [RefSeq, PubMed]; Knockdown of ubiquitin-conjugating enzyme E2T (UBE2T) suppresses lung adenocarcinoma progression via targeting fibulin-5 (FBLN5)., [RefSeq, PubMed]; The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 84, "disease_count": 9, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O75966;Q6IAL4;Q6UWA3", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0042803 protein homodimerization activity;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:0071953 elastic fiber", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0007160 cell-matrix adhesion;GO:0033690 positive regulation of osteoblast proliferation;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9UBX5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L5Y1-1", "uniprot_id": [ { "id": "ENOF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L5Y1", "type": "external" } ], "mass": 49786.0, "length": 443, "protein_name": "Mitochondrial enolase superfamily member 1", "gene_name": "ENOSF1", "organism": "Human", "refseq_name": "mitochondrial enolase superfamily member 1 isoform 4", "refseq_ac": [ { "id": "NP_001305689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305689", "type": "external" } ], "gene_names_uniprotkb": "ENOSF1; RTS; TYMSAS", "gene_names_refseq": "ENOSF1; FUCD; RTS; TYMSAS", "protein_names_uniprotkb": "Mitochondrial enolase superfamily member 1; 4.2.1.68; Antisense RNA to thymidylate synthase; L-fuconate dehydratase; rTS", "protein_names_refseq": "L-fuconate dehydratase; antisense RNA to thymidylate synthase; mitochondrial enolase superfamily member 1 isoform 4; mitochondrial enolase superfamily member 1", "tax_id": 9606, "disease": "digenic dyskeratosis congenita (Disease Ontology:DOID:0060984)", "pathway": " (hsa:55556)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;12084460;15994970;16162288;18427977;18452278;24697329;24715725;25418920;25576301;25880248;26154972;26929215;26992070;27600516;27920218;28510447;28832583;28904123;29242379;29557506;29789417;30429286;31838077;31844290;32157095;32357974;32387766;32897882;32983136;33298915;33537174;33691108;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35931051;36010968;36172660;36215666;36284347;8493092;8764108;8869746", "class_list": "", "function": "Evaluating the role of ENOSF1 and TYMS variants as predictors in fluoropyrimidine-related toxicities: An IPD meta-analysis., [RefSeq, PubMed]; Evaluation of TS and ENOSF1 Variants as a Biomarker in Response to Neoadjuvant Chemotherapy based on 5FU in Gastric Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of genetic testing. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in the catabolism of L-fucose, a sugar that is part of the carbohydrates that are attached to cellular glycoproteins. Catalyzes the dehydration of L-fuconate to 2-keto-3-deoxy-L-fuconate by the abstraction of the 2-proton to generate an enediolate intermediate that is stabilized by the magnesium ion (PubMed:24697329)., [UniProtKB, PubMed]; This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6NMP3;A8K9R5;B3KSL6;B3KXE4;D3DUH0;Q15407;Q15594;Q15595;Q6ZS08;Q9HAS5;Q9HAS6", "ec_number_list": [ { "id": "4.2.1.68", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.68", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0016836 hydro-lyase activity;GO:0016853 isomerase activity;GO:0050023 L-fuconate dehydratase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0016052 carbohydrate catabolic process;GO:0009063 amino acid catabolic process", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q7L5Y1-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVF7-1", "uniprot_id": [ { "id": "FBX28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVF7", "type": "external" } ], "mass": 41149.0, "length": 368, "protein_name": "F-box only protein 28", "gene_name": "FBXO28", "organism": "Human", "refseq_name": "F-box only protein 28 isoform b", "refseq_ac": [ { "id": "NP_001129587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129587", "type": "external" } ], "gene_names_uniprotkb": "FBXO28; CENP-30; KIAA0483", "gene_names_refseq": "CENP-30; DEE100; FBXO28; Fbx28", "protein_names_uniprotkb": "F-box only protein 28", "protein_names_refseq": "F-box only protein 28 isoform b; F-box only protein 28; centromere protein 30", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 100 (Disease Ontology:DOID:0070386)", "pathway": " (hsa:23219)", "pathway_count": 1, "publication_count": 92, "publication_id_list": "17081983;18452278;18669648;19413330;19664995;19690332;20068231;20813266;21248752;21406692;22544926;22898188;22984286;23186163;23481700;23776131;24715725;25418920;25576301;25645385;26154972;26375851;26768311;26811146;26929215;26992070;27543614;27600516;27754753;27846572;27862975;28063628;28228285;28514659;28832583;29242379;29393594;29493099;29508533;29557506;29587369;29632046;29632711;29786170;30315122;30429286;30484775;30524438;30779550;31154438;31222486;31530632;31678254;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33280099;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;35051231;35561310;35580925;36010968;36215666;36284347;37348029;37596321;37938771;38267923", "class_list": "", "function": "FBXO28 promotes cell proliferation, migration and invasion via upregulation of the TGF-beta1/SMAD2/3 signaling pathway in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; FBXO28 promotes proliferation, invasion, and metastasis of pancreatic cancer cells through regulation of SMARCC2 ubiquitination. Erratum:[Aging (Albany NY). 2023 Sep 14;15(17):9230-9232. doi: 10.18632/aging.205071. PMID: 37708091], [RefSeq, PubMed]; FBXO28 suppresses liver cancer invasion and metastasis by promoting PKA-dependent SNAI2 degradation., [RefSeq, PubMed]; Members of the F-box protein family, such as FBXO28, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), 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]; Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex, promoting ubiquitination and proteasomal degradation of specific target proteins including TOP2A, RAB27A or itself (PubMed:27754753, PubMed:31678254). Regulates topoisomerase IIalpha/TOP2A decatenation activity and plays an important role in maintaining genomic stability (PubMed:27754753). Plays a role in lipid metabolism and inflammation through the ubiquitinated degradation of RAB27A (By similarity). Strongly regulates beta-cell survival without having any significant independent effect on insulin secretion (PubMed:29587369). Plays an essential role in spindle morphology and actin-based spindle migration probably through the ARPC2/ARP3 signaling pathway (By similarity)., [UniProtKB, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "E9PEM8;O75070", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000776 kinetochore", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0000209 protein polyubiquitination;GO:0031146 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q9NVF7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86T90-1", "uniprot_id": [ { "id": "K1328_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86T90", "type": "external" } ], "mass": 65373.0, "length": 577, "protein_name": "Protein hinderin", "gene_name": "KIAA1328", "organism": "Human", "refseq_name": "protein hinderin isoform 1", "refseq_ac": [ { "id": "NP_065827", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065827", "type": "external" } ], "gene_names_uniprotkb": "KIAA1328", "gene_names_refseq": "KIAA1328", "protein_names_uniprotkb": "Protein hinderin", "protein_names_refseq": "hinderin; protein hinderin isoform 1; protein hinderin", "tax_id": 9606, "disease": "", "pathway": " (hsa:57536)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;15656913;19413330;23186163;23481700;24715725;26992070;28467828;29242379;29493099;29557506;29632046;31844290;32357974;32387766;32897882;32938616;33298915;33968037;33981976;35561310", "class_list": "", "function": "Competes with SMC1 for binding to SMC3. May affect the availability of SMC3 to engage in the formation of multimeric protein complexes., [UniProtKB, PubMed]; Hinderin is a novel binding partner of SMC3. Based on its ability to modulate SMC1/SMC3 interaction we postulate that Hinderin affects the availability of SMC3 to engage in the formation of multimeric protein complexes. 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": 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": "Q05DL0;Q49AG6;Q9P2L8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q86T90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVF5-1", "uniprot_id": [ { "id": "KCTD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVF5", "type": "external" } ], "mass": 29967.0, "length": 259, "protein_name": "BTB/POZ domain-containing protein KCTD4", "gene_name": "KCTD4", "organism": "Human", "refseq_name": "BTB/POZ domain-containing protein KCTD4", "refseq_ac": [ { "id": "NP_940686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940686", "type": "external" } ], "gene_names_uniprotkb": "KCTD4", "gene_names_refseq": "KCTD4; bA321C24.3", "protein_names_uniprotkb": "BTB/POZ domain-containing protein KCTD4", "protein_names_refseq": "BTB/POZ domain-containing protein KCTD4; potassium channel tetramerisation domain containing 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:386618)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "21136679;25576301;31844290;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": "Q5W0P9", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "", "go_biological_process": "GO:0051260 protein homooligomerization", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8WVF5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H867-4", "uniprot_id": [ { "id": "MT21D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H867", "type": "external" } ], "mass": 25807.0, "length": 229, "protein_name": "Protein N-lysine methyltransferase METTL21D", "gene_name": "VCPKMT", "organism": "Human", "refseq_name": "protein N-lysine methyltransferase METTL21D isoform b", "refseq_ac": [ { "id": "NP_001035752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035752", "type": "external" } ], "gene_names_uniprotkb": "VCPKMT; C14orf138; METTL21D", "gene_names_refseq": "C14orf138; METTL21D; VCP-KMT; VCPKMT", "protein_names_uniprotkb": "Protein N-lysine methyltransferase METTL21D; 2.1.1.-; Methyltransferase-like protein 21D; VCP lysine methyltransferase; VCP-KMT; Valosin-containing protein lysine methyltransferase", "protein_names_refseq": "VCP lysine methyltransferase; methyltransferase like 21D; methyltransferase-like protein 21D; protein N-lysine methyltransferase METTL21D isoform b; protein N-lysine methyltransferase METTL21D; protein-lysine methyltransferase METTL21D; valosin containing protein lysine (K) methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:79609); (R-HSA-8876725)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "16118227;22948820;23186163;23349634;25144183;25231979;25416781;26545399;27846572;27920218;28063628;29557506;29632046;31844290;32387766;32938616;33968037;36656859;38253038", "class_list": "", "function": "METTL21D is the methyltransferase responsible for lysine methylation of VCP., [RefSeq, PubMed]; METTL21D trimethylates Lys-315 in VCP/p97 in a ASPCR1-dependent manner, [RefSeq, PubMed]; Protein N-lysine methyltransferase that specifically trimethylates 'Lys-315' of VCP/p97; this modification may decrease VCP ATPase activity., [UniProtKB, PubMed, PubMed]; Structural remodeling of AAA+ ATPase p97 by adaptor protein ASPL facilitates posttranslational methylation by METTL21D., [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": 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": "B7ZLA3;B7ZLA4;Q2M2X3;Q86T12", "ec_number_list": [ { "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": "2.1.1.359", "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:0016279 protein-lysine N-methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006479 protein methylation;GO:0032780 negative regulation of ATP-dependent activity;GO:0018022 peptidyl-lysine methylation;GO:0018023 peptidyl-lysine trimethylation", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q9H867-4", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70E73-10", "uniprot_id": [ { "id": "RAPH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70E73", "type": "external" } ], "mass": 135256.0, "length": 1250, "protein_name": "Ras-associated and pleckstrin homology domains-containing protein 1", "gene_name": "RAPH1", "organism": "Human", "refseq_name": "ras-associated and pleckstrin homology domains-containing protein 1 isoform 3", "refseq_ac": [ { "id": "NP_976241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976241", "type": "external" } ], "gene_names_uniprotkb": "RAPH1; ALS2CR18; ALS2CR9; KIAA1681; LPD; PREL2; RMO1", "gene_names_refseq": "ALS2CR18; ALS2CR9; LPD; PREL-2; PREL2; RAPH1; RMO1; RalGDS/AF-6", "protein_names_uniprotkb": "Ras-associated and pleckstrin homology domains-containing protein 1; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 18 protein; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 9 protein; Lamellipodin; PREL-2; Proline-rich EVH1 ligand 2; Protein RMO1; RAPH1", "protein_names_refseq": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18; amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9; lamellipodin; proline-rich EVH1 ligand 2; ras-associated and pleckstrin homology domains-containing protein 1 isoform 3; ras-associated and pleckstrin homology domains-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:65059)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11586298;15302935;15469845;15586368;15609301;16959974;18077418;18452278;18499456;18669648;19413330;19651622;19901323;20068230;20068231;20417104;21406692;22028470;23186163;23483482;24275569;25576301;25645385;26295568;26419705;27346732;27600516;27862975;28657654;29557506;29786170;30056565;31154438;31492838;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32938616;32983136;33392160;33592498;33912179;33968037;33981976;34019948;34087483;34932366;35051231;35254053;35289036;35318648;35580925;36010968;36241641;36284347;37217939;37938771;38062011;38665916;39302247;39531497;39534244;40136647;41350704", "class_list": "", "function": "Disruption of the RIAM/lamellipodin-integrin-talin complex markedly impairs cell migration. Publication Status: Online-Only, [RefSeq, PubMed]; High RAPH1 expression is correlated with aggressive breast cancer phenotypes and provides independent prognostic value in invasive breast cancer., [RefSeq, PubMed]; Mediator of localized membrane signals. Implicated in the regulation of lamellipodial dynamics. Negatively regulates cell adhesion., [UniProtKB]; Nuclear isoform of RAPH1 interacts with FOXQ1 to promote aggressiveness and radioresistance in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RMO1 is expressed and deleted in osteosarcoma, [RefSeq, PubMed]; The authors propose that Lpd delivers Ena/VASP proteins to growing barbed ends and increases their actin polymerase activity by tethering them to actin filaments. Publication Status: Online-Only, [RefSeq, PubMed]; The crystal structure of Lpd cc-RA-PH presents a molecular model of Lpd enhances actin polymerization by oligomerization via two intermolecular contact sites., [RefSeq, PubMed]; The human RAPH1 gene is the CHE2 locus., [RefSeq, PubMed]; This gene encodes a protein that belongs to the Mig10/Rap1-interacting adaptor molecule/Lamellipodin family of adapter proteins, which function in cell migration. Members of this family contain pleckstrin-homology domains, Ras-association domains, and proline-rich C-termini. The protein encoded by this gene regulates actin dynamics through interaction with Ena/Vasodilator proteins as well as direct binding to filamentous actin to regulate actin network assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 8, "predicted_n_glycosites": 0, "predicted_o_glycosites": 8, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 43, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q96Q37;Q9C0I2", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0030027 lamellipodium;GO:0030175 filopodium", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0048858 cell projection morphogenesis", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q70E73-10", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47736-1", "uniprot_id": [ { "id": "RPGP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P47736", "type": "external" } ], "mass": 73361.0, "length": 663, "protein_name": "Rap1 GTPase-activating protein 1", "gene_name": "RAP1GAP", "organism": "Human", "refseq_name": "rap1 GTPase-activating protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001139129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139129", "type": "external" } ], "gene_names_uniprotkb": "RAP1GAP; KIAA0474; RAP1GA1", "gene_names_refseq": "RAP1GA1; RAP1GAP1; RAP1GAPII; RAP1GAP; RAPGAP", "protein_names_uniprotkb": "Rap1 GTPase-activating protein 1; Rap1GAP1; Rap1GAP", "protein_names_refseq": "rap1 GTPase-activating protein 1 isoform 2; rap1 GTPase-activating protein 1", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); focal segmental glomerulosclerosis (Disease Ontology:DOID:1312); pancreatic cancer (Disease Ontology:DOID:1793); melanoma (Disease Ontology:DOID:1909); bipolar disorder (Disease Ontology:DOID:3312); papillary thyroid carcinoma (Disease Ontology:DOID:3969)", "pathway": " (hsa:5909); (R-HSA-392517); (R-HSA-8853659)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10448070;10476970;10995764;11000521;11002419;11237011;11237712;11360177;11390647;11470823;11491658;11886862;12242309;12771945;1406653;14766744;15044950;15141215;15286081;15569713;15632203;16959974;18039662;18309292;1846040;18669648;18767875;1904317;19218462;19608861;20068231;23186163;24275569;25329897;32983136;33981976;34171305;34311462;34840979;35051231;35054818;35318648;35429959;35494241;35580925;36241641;37938771;38154105;7665556;8253074;8628282;8631863;8637703;8662982;8663426;8674117;9047384;9115221;9192684;9299438;9346962;9407096;9491986;9764818;9789079;9883723", "class_list": "", "function": "CpG Island Methylation of the Rap1Gap Gene in Medullary Thyroid Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulating miR-184 relieves calcium oxalate crystal-mediated renal cell damage via activating the Rap1 signaling pathway., [RefSeq, PubMed]; Downregulation of Rap1GAP Expression Activates the TGF-beta/Smad3 Pathway to Inhibit the Expression of Sodium/Iodine Transporter in Papillary Thyroid Carcinoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RAP1GAP Functions as a Tumor Suppressor Gene and Is Regulated by DNA Methylation in Differentiated Thyroid Cancer., [RefSeq, PubMed]; Simulated Microgravity Increases the Permeability of HUVEC Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2 Activation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a type of GTPase-activating-protein (GAP) that down-regulates the activity of the ras-related RAP1 protein. RAP1 acts as a molecular switch by cycling between an inactive GDP-bound form and an active GTP-bound form. The product of this gene, RAP1GAP, promotes the hydrolysis of bound GTP and hence returns RAP1 to the inactive state whereas other proteins, guanine nucleotide exchange factors (GEFs), act as RAP1 activators by facilitating the conversion of RAP1 from the GDP- to the GTP-bound form. In general, ras subfamily proteins, such as RAP1, play key roles in receptor-linked signaling pathways that control cell growth and differentiation. RAP1 plays a role in diverse processes such as cell proliferation, adhesion, differentiation, and embryogenesis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [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": 14, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 1, "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": "J3QSS6;O75062;Q5T3S9;Q5T3T4;Q7Z5S8;Q9UQ51", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0042803 protein homodimerization activity;GO:0031267 small GTPase binding;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1903697 negative regulation of microvillus assembly;GO:0007165 signal transduction;GO:0043087 regulation of GTPase activity;GO:0043547 positive regulation of GTPase activity;GO:0045665 negative regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "P47736-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16629-1", "uniprot_id": [ { "id": "SRSF7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16629", "type": "external" } ], "mass": 27367.0, "length": 238, "protein_name": "Serine/arginine-rich splicing factor 7", "gene_name": "SRSF7", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 7 isoform 1", "refseq_ac": [ { "id": "NP_001026854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026854", "type": "external" } ], "gene_names_uniprotkb": "SRSF7; SFRS7", "gene_names_refseq": "9G8; AAG3; SFRS7; SRSF7", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 7; Splicing factor 9G8; Splicing factor, arginine/serine-rich 7", "protein_names_refseq": "SR splicing factor 7; aging-associated protein 3; serine/arginine-rich splicing factor 7 isoform 1; serine/arginine-rich splicing factor 7; splicing factor 9G8; splicing factor, arginine/serine-rich 7, 35kDa", "tax_id": 9606, "disease": "clear cell renal cell carcinoma (Disease Ontology:DOID:4467)", "pathway": " (hsa:6432); (R-HSA-159236); (R-HSA-72163); (R-HSA-72165); (R-HSA-72187); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 8, "publication_count": 251, "publication_id_list": "10207048;10228171;10323864;10489353;10668806;10669729;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11333026;11336712;11579093;11607023;11739738;11747608;11756420;11875071;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12501247;12667464;12871933;14519844;14625303;14684736;14713954;14749727;14762106;15009664;15037765;15084397;15104674;15169763;15565158;15998806;16314397;16314458;16809785;16964243;17000901;17036044;17081983;17095540;17128255;17190602;17322306;17332742;17606899;17940139;17984224;18288197;18322460;18364396;18411249;18423201;18593880;18669648;18957205;19052544;19103666;19165350;19217410;19415658;19536130;19608861;19651622;19664994;19664995;19836239;20068231;20112406;20129943;20166139;20423332;20573985;20695905;20844015;20857263;20980672;21295486;21406692;21536652;2176635;21911577;21947206;22110043;22121020;22207203;22365833;22677170;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23345524;23481700;23826332;23874216;24076191;24149845;24196718;24244187;24304693;24316715;24407421;24448447;24616531;24714562;24737827;24914973;24981863;2524422;25301780;25301781;25418920;25469497;25555158;25576301;2558966;25662211;25836925;26092250;26154972;26385511;26420826;26728094;26811146;26969736;26992070;27108190;27377154;27459055;27510544;27683217;27846572;27920218;28062851;28063628;28076346;28096519;28228285;28502770;28781166;28832583;28834231;28855257;28860189;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29902443;30139799;30257008;30315277;30429286;30599162;30705154;30728453;30765414;30784271;30975767;31154438;31222486;31409651;31844290;31848261;31998317;32119511;32157095;32179686;32265295;32329775;32357974;32387766;32494006;32816001;32938616;32983136;33177556;33214551;33243851;33446560;33465208;34019948;34096602;34301950;34561969;34725712;34822310;34954129;35177536;35215846;35385551;35780586;36010968;36215666;37217939;3757028;37938771;38159247;38665916;40596516;40914422;7629084;8013463;8352591;8566756;8608946;8835860;9016565;9242493;9409616;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "Required for pre-mRNA splicing. Can also modulate alternative splicing in vitro. Represses the splicing of MAPT/Tau exon 10. May function as export adapter involved in mRNA nuclear export such as of histone H2A. Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity. RNA-binding is semi-sequence specific., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; SRSF7 downregulation induces cellular senescence through generation of MDM2 variants., [RefSeq, PubMed]; Sequence-dependent recruitment of SRSF1 and SRSF7 to intronless lncRNA NKILA promotes nuclear export via the TREX/TAP pathway., [RefSeq, PubMed]; Specific Regulation of m[6]A by SRSF7 Promotes the Progression of Glioblastoma., [RefSeq, PubMed]; The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-terminal RNA recognition motif (RRM) for binding RNA and a C-terminal RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2018]., [RefSeq]; The splicing factor 9G8 regulates the expression of NADPH-producing enzyme genes in Drosophila., [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": 30, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 5, "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": "B4DLU6;G5E9M3;Q564D3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0051028 mRNA transport;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 25.8, "record_id": "Q16629-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BQ3-1", "uniprot_id": [ { "id": "TRI43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BQ3", "type": "external" } ], "mass": 52265.0, "length": 446, "protein_name": "Tripartite motif-containing protein 43", "gene_name": "TRIM43", "organism": "Human", "refseq_name": "tripartite motif-containing protein 43", "refseq_ac": [ { "id": "NP_620155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620155", "type": "external" } ], "gene_names_uniprotkb": "TRIM43", "gene_names_refseq": "TRIM43A; TRIM43", "protein_names_uniprotkb": "Tripartite motif-containing protein 43", "protein_names_refseq": "tripartite motif-containing protein 43", "tax_id": 9606, "disease": "", "pathway": " (hsa:129868)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "27893789;28832583;29242379;29557506;30420784;31154438", "class_list": "", "function": "E3 ligase that regulates nuclear lamina integrity and the association of viral chromatin with transcriptionally-active host chromatin. Acts thereby as a herpesvirus-specific antiviral factor and mediates the ubiquitination-dependent proteasomal degradation of PCNT., [UniProtKB, PubMed]; TRIM43 ubiquitinates the centrosomal protein pericentrin, thereby targeting it for proteasomal degradation, which subsequently leads to alterations of the nuclear lamina that repress active viral chromatin states., [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": "Q53TJ7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96BQ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXA7-1", "uniprot_id": [ { "id": "TSSK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXA7", "type": "external" } ], "mass": 41618.0, "length": 367, "protein_name": "Testis-specific serine/threonine-protein kinase 1", "gene_name": "TSSK1B", "organism": "Human", "refseq_name": "testis-specific serine/threonine-protein kinase 1", "refseq_ac": [ { "id": "NP_114417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114417", "type": "external" } ], "gene_names_uniprotkb": "TSSK1B; FKSG81; SPOGA1; SPOGA4; STK22A; STK22D; TSSK1", "gene_names_refseq": "FKSG81; SPOGA4; STK22D; TSK1; TSSK1B; TSSK1", "protein_names_uniprotkb": "Testis-specific serine/threonine-protein kinase 1; 2.7.11.1; Serine/threonine-protein kinase 22A; TSK-1; TSK1; TSSK-1; Testis-specific kinase 1", "protein_names_refseq": "TSK-1; TSSK-1; serine/threonine kinase 22D (spermiogenesis associated); serine/threonine kinase FKSG81; serine/threonine-protein kinase 22A; spermiogenesis associated 4; testis tissue sperm-binding protein Li 55e; testis-specific kinase 1; testis-specific serine kinase 1; testis-specific serine/threonine-protein kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:83942)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "15044604;15733851;17344846;17566264;19530700;20729278;22564745;23258646;32488085;33968037;35485285", "class_list": "", "function": "Report evolution of testis-specific kinases TSSK1B and TSSK2 in primates., [RefSeq, PubMed]; Role of testisspecific serine kinase 1B in undiagnosed male infertility., [RefSeq, PubMed]; TSSK1 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]., [RefSeq]; Testis-specific serine/threonine-protein kinase required during spermatid development. Phosphorylates 'Ser-288' of TSKS. Involved in the late stages of spermatogenesis, during the reconstruction of the cytoplasm. During spermatogenesis, required for the transformation of a ring-shaped structure around the base of the flagellum originating from the chromatoid body., [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": 2, "reported_glycation": 0, "reported_snv": 15, "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": "B2R8D9", "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:0044877 protein-containing complex binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0031514 motile cilium;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9BXA7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G04-1", "uniprot_id": [ { "id": "EF2KT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G04", "type": "external" } ], "mass": 36915.0, "length": 330, "protein_name": "Protein-lysine N-methyltransferase EEF2KMT", "gene_name": "EEF2KMT", "organism": "Human", "refseq_name": "protein-lysine N-methyltransferase EEF2KMT isoform 3", "refseq_ac": [ { "id": "NP_001275958", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275958", "type": "external" } ], "gene_names_uniprotkb": "EEF2KMT; FAM86A; SB153", "gene_names_refseq": "EEF2KMT; EFM3; FAM86A; SB153; eEF2-KMT", "protein_names_uniprotkb": "Protein-lysine N-methyltransferase EEF2KMT; 2.1.1.-; eEF2-KMT; eEF2-lysine methyltransferase", "protein_names_refseq": "eEF2-lysine methyltransferase; family with sequence similarity 86, member A; protein FAM86A; protein-lysine N-methyltransferase EEF2KMT isoform 3; protein-lysine N-methyltransferase EEF2KMT; putative protein N-methyltransferase FAM86A", "tax_id": 9606, "disease": "", "pathway": " (hsa:196483); (R-HSA-8876725)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "11237011;16118227;22424782;23349634;23481700;24366607;24714562;24715725;25144183;25231979;25416781;25418920;25576301;25645385;26154972;26545399;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31492838;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32387766;32502341;32897882;32938616;33141586;33298915;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35580925;36010968;36215666;36241641;37209825", "class_list": "", "function": "Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on 'Lys-525'., [UniProtKB, PubMed]; Previously uncharacterized lysine-specific methyltransferase FAM86A and Yjr129c introduce a functionally important lysine methylation in eEF2., [RefSeq, PubMed]; The FAM86 domain of FAM86A confers substrate specificity to promote EEF2-Lys525 methylation., [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": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DUF0;Q96S85", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "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:0016279 protein-lysine N-methyltransferase activity;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006479 protein methylation;GO:0018023 peptidyl-lysine trimethylation;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q96G04-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04671-1", "uniprot_id": [ { "id": "P_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04671", "type": "external" } ], "mass": 92850.0, "length": 838, "protein_name": "P protein", "gene_name": "OCA2", "organism": "Human", "refseq_name": "P protein isoform 1", "refseq_ac": [ { "id": "NP_000266", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000266", "type": "external" } ], "gene_names_uniprotkb": "OCA2; D15S12; P", "gene_names_refseq": "BEY1; BEY2; BEY; BOCA; D15S12; EYCL2; EYCL3; EYCL; HCL3; OCA2; PED; P; SHEP1; SLC13B1", "protein_names_uniprotkb": "P protein; Melanocyte-specific transporter protein; Pink-eyed dilution protein homolog", "protein_names_refseq": "P protein isoform 1; P-protein; eye color 2 (central brown); eye color 3 (brown); hair color 3 (brown); melanocyte-specific transporter protein; oculocutaneous albinism II (pink-eye dilution homolog, mouse); pink-eyed dilution protein homolog; total brown iris pigmentation", "tax_id": 9606, "disease": "oculocutaneous albinism (Disease Ontology:DOID:0050632); oculocutaneous albinism type II (Disease Ontology:DOID:0070096); pigmentation disease (Disease Ontology:DOID:10123); squamous cell carcinoma (Disease Ontology:DOID:1749); basal cell carcinoma (Disease Ontology:DOID:2513); actinic keratosis (Disease Ontology:DOID:8866); skin melanoma (Disease Ontology:DOID:8923); obsolete skin/hair/eye pigmentation, variation in, 1 (MONDO:MONDO:0044255)", "pathway": " (hsa:4948); (R-HSA-5662702)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10094567;10649493;10671067;10987646;11171088;11237011;11310796;11601658;12028586;12163334;12713581;12727022;12876664;1509264;15262401;15889046;16704458;16959974;17083485;17236130;17385796;17952075;18172690;18252221;18252222;19297406;19320733;19384953;21677667;22234890;23271734;23504663;24617981;25093188;25513726;26375851;27600516;28218747;28411811;28904123;29557506;31844290;31848261;32157095;32488085;32966160;35874702;36215666;37294081;37650133;37882226;39894887;4853153;6766744;7601462;7762554;7874125;8048919;8421497;9259203;9770375", "class_list": "", "function": "Contributes to a melanosome-specific anion (chloride) current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis and the melanosome maturation (PubMed:11310796, PubMed:15262401, PubMed:22234890, PubMed:25513726). One of the components of the mammalian pigmentary system (PubMed:15262401, PubMed:18252222, PubMed:7601462). May serve as a key control point at which ethnic skin color variation is determined. Major determinant of brown and/or blue eye color (PubMed:15262401, PubMed:18252222, PubMed:7601462). Seems to regulate the post-translational processing of tyrosinase, which catalyzes the limiting reaction in melanin synthesis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population. Publication Status: Online-Only, [RefSeq, PubMed]; Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism., [RefSeq, PubMed]; This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q15211;Q15212;Q96EN1;Q9UMI5", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" }, { "id": "1.8.5.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.5.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" } ], "go_molecular_function": "GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0010008 endosome membrane;GO:0033162 melanosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0042438 melanin biosynthetic process;GO:0035752 lysosomal lumen pH elevation;GO:0030318 melanocyte differentiation;GO:0006583 melanin biosynthetic process from tyrosine;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q04671-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14827-1", "uniprot_id": [ { "id": "RGRF2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14827", "type": "external" } ], "mass": 140764.0, "length": 1237, "protein_name": "Ras-specific guanine nucleotide-releasing factor 2", "gene_name": "RASGRF2", "organism": "Human", "refseq_name": "ras-specific guanine nucleotide-releasing factor 2", "refseq_ac": [ { "id": "NP_008840", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008840", "type": "external" } ], "gene_names_uniprotkb": "RASGRF2; GRF2", "gene_names_refseq": "GRF2; RAS-GRF2; RASGRF2", "protein_names_uniprotkb": "Ras-specific guanine nucleotide-releasing factor 2; Ras guanine nucleotide exchange factor 2; Ras-GRF2", "protein_names_refseq": "ras guanine nucleotide exchange factor 2; ras-specific guanine nucleotide-releasing factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5924); (R-HSA-193648); (R-HSA-416482); (R-HSA-442982); (R-HSA-5673001); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 8, "publication_count": 418, "publication_id_list": "10037681;10232922;10373510;10464238;10490598;10508167;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10869344;10873388;10873802;10958683;11007481;11027663;11058585;11085924;11090077;11136978;11149925;11207612;11237011;11283606;11294240;11306516;11313914;11313946;11373293;11396949;11431473;11432776;11546808;11584276;11606631;11672528;11680691;11689693;11696321;11702783;11704860;11707441;11742120;11756498;11756552;11773441;11803464;11804587;11804589;11804590;11856323;11884391;11912491;11948177;11961559;12032311;12071859;12093360;12094235;12096337;12097334;12101119;12121613;12123608;12172552;12176907;12195014;12221077;12221096;12351724;12432077;12433842;12464619;12515866;12531887;12546821;12547822;12650940;12665586;12773384;12857875;12860998;12877655;12907671;12923183;14506234;14506247;14512443;14514689;14622581;1464587;14673001;14675773;14707138;14718541;14749369;15023524;15033976;15064355;15107133;15128856;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15356145;1545823;15470142;15485661;15507211;15546878;15579468;15601624;15611138;15699075;15728722;15749160;15850391;15858067;15866170;15897194;15951850;16002401;16112081;16116428;16184169;16212495;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16627759;16630611;16636067;16684964;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16923326;16959974;16968698;17064668;17077126;17145773;1716764;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;17998941;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18374420;18396277;18426980;18577758;18653540;18775330;18786931;18829452;18835169;18838382;18929667;1898771;19212140;19269969;19279408;19494238;19605563;19635168;19673492;19713215;19920141;19934221;20030946;20101212;20400958;20460433;20478380;20591975;20628200;20660154;20679435;20810653;21102635;21148482;21351730;21372320;21406692;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21779497;21779505;21865595;21936715;21989057;21993244;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22569528;22571869;22589270;22608513;22661716;22673745;22734669;22750304;22911862;22970203;22992742;23103841;23200924;23209303;23255595;23288169;23303910;23406282;23434736;23443682;23572525;23575685;23707487;23718289;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24584464;24859002;24897931;24933155;24937142;24960694;24996924;25024229;25211221;25219551;25414122;25428919;25704760;25721503;25781681;25795300;25862245;25963737;26085527;26129894;26154972;26299518;26371245;26529257;26598554;26887924;26992070;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27862975;27986909;27992614;28028151;28112683;28114311;28196833;28584191;28778966;28825699;28860633;29089502;29146911;29242379;29358323;29382922;29493099;29557506;29786170;30007591;30061681;30249655;30359168;30429286;30853411;31105010;31135801;31871319;32203420;32298357;32897882;33141586;33392160;34105348;35051231;35254053;36010968;36284347;37029817;37938771;6148751;7479768;7512369;7559638;7673236;7721814;7753201;7809086;7835339;7935463;7937899;7972015;8021274;8052307;8107774;8394845;8493579;8537347;8543060;8571126;8617235;8643598;8645157;8649427;8662891;8665852;8670801;8710374;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939933;8939998;8990121;8994827;9013646;9099726;9111050;9113980;9268338;9305890;9308960;9405671;9418861;9438849;9490638;9497316;9520479;9535835;9548756;9582072;9604935;9659915;9670022;9792683;9796816;9822598;9822605;9829970;9843499;9846874;9927426;9988689", "class_list": "", "function": "AnxA6 may be a reliable biomarker for distant relapse-free survival and response of triple negative breast cancer (TNBC) patients to chemotherapy, and that the reciprocal expression of AnxA6 and GRF2 can reliably delineate TNBCs into rapidly growing and invasive subsets which may be more relevant for subset-specific therapeutic interventions. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a calcium-regulated nucleotide exchange factor activating both Ras and RAC1 through the exchange of bound GDP for GTP. Preferentially activates HRAS in vivo compared to RRAS based on their different types of prenylation. Functions in synaptic plasticity by contributing to the induction of long term potentiation., [UniProtKB, PubMed]; Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway genes predict survival of HBV-related hepatocellular carcinoma patients., [RefSeq, PubMed]; High RASGRF2 expression is associated with migration and invasion of colorectal cancer., [RefSeq, PubMed]; RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]., [RefSeq]; RASGRF2-int is significantly associated with drug addiction., [RefSeq, PubMed]; This genetic association study represents the first to show an association of the RASGRF2 G>A (rs26907) polymorphism with Alcoholic Liver Cirrhosis in men, particularly in the subgroup of patients with alcohol dependence. The findings suggest the potential relevance of the RAS gene family in alcoholism and Alcoholic Liver Cirrhosis. 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": 8, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 31, "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": "B9EG89;Q9UK56", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007265 Ras protein signal transduction;GO:0034976 response to endoplasmic reticulum stress;GO:0099170 postsynaptic modulation of chemical synaptic transmission;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 42.2, "record_id": "O14827-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0E8-1", "uniprot_id": [ { "id": "LNP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0E8", "type": "external" } ], "mass": 47740.0, "length": 428, "protein_name": "Endoplasmic reticulum junction formation protein lunapark", "gene_name": "LNPK", "organism": "Human", "refseq_name": "endoplasmic reticulum junction formation protein lunapark isoform 1", "refseq_ac": [ { "id": "NP_001291937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291937", "type": "external" } ], "gene_names_uniprotkb": "LNPK; KIAA1715; LNP", "gene_names_refseq": "KIAA1715; LNP1; LNPK; LNP; NEDEHCC; Ul; ulnaless", "protein_names_uniprotkb": "Endoplasmic reticulum junction formation protein lunapark; ER junction formation factor lunapark", "protein_names_refseq": "2310011O18Rik; 4921514L11Rik; ER junction formation factor lunapark; endoplasmic reticulum junction formation protein lunapark isoform 1; endoplasmic reticulum junction formation protein lunapark; limb and neural patterns; protein lunapark", "tax_id": 9606, "disease": "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum (MONDO:MONDO:0060761)", "pathway": " (hsa:80856)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "11237011;17081983;17924679;18578522;18691976;19651622;20068231;20213681;22729086;23186163;24223779;24275569;25404289;25548161;26154972;27452731;27619977;28228285;28904123;29493099;29557506;29786170;30032983;30315122;30429286;31154438;31217245;31222486;31844290;31848261;31998317;32157095;32350084;32387766;32433973;32938616;33091337;33298915;33592498;33717175;33936100;33968037;34171305;34206552;34433824;34879280;35051231;35251023;35580925;36010968;36241641;38253038;40596516", "class_list": "", "function": "Endoplasmic reticulum (ER)-shaping membrane protein that plays a role in determining ER morphology (PubMed:30032983). Involved in the stabilization of nascent three-way ER tubular junctions within the ER network (PubMed:24223779, PubMed:25404289, PubMed:25548161, PubMed:27619977). May also play a role as a curvature-stabilizing protein within the three-way ER tubular junction network (PubMed:25404289). May be involved in limb development (By similarity). Is involved in central nervous system development (PubMed:30032983)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Lunapark-dependent formation of a virus-induced ER exit site contains multi-tubular ER junctions that promote viral ER-to-cytosol escape., [RefSeq, PubMed]; Propose that Lnp1p and Sey1p act antagonistically to balance endoplasmic reticular polygonal network formation. Publication Status: Online-Only, [RefSeq, PubMed]; Protein N-myristoylation plays a critical role in the endoplasmic reticulum morphological change induced by overexpression of protein Lunapark. Publication Status: Online-Only, [RefSeq, PubMed]; Roles of the Endogenous Lunapark Protein during Flavivirus Replication. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitylation of the ER-Shaping Protein Lunapark via the CRL3(KLHL12) Ubiquitin Ligase 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 22, "reported_glycation": 0, "reported_snv": 8, "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": "B7ZLA8;Q2M2V8;Q2YD99;Q658W8;Q8N5V9;Q96MS5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0071782 endoplasmic reticulum tubular network;GO:0098826 endoplasmic reticulum tubular network membrane", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0060173 limb development;GO:0007029 endoplasmic reticulum organization;GO:1903373 positive regulation of endoplasmic reticulum tubular network organization;GO:0071788 endoplasmic reticulum tubular network maintenance", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9C0E8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS15-1", "uniprot_id": [ { "id": "LTBP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS15", "type": "external" } ], "mass": 139359.0, "length": 1303, "protein_name": "Latent-transforming growth factor beta-binding protein 3", "gene_name": "LTBP3", "organism": "Human", "refseq_name": "latent-transforming growth factor beta-binding protein 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001123616", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123616", "type": "external" } ], "gene_names_uniprotkb": "LTBP3", "gene_names_refseq": "DASS; GPHYSD3; LTBP-3; LTBP2; LTBP3; STHAG6; pp6425", "protein_names_uniprotkb": "Latent-transforming growth factor beta-binding protein 3; LTBP-3", "protein_names_refseq": "latent TGF beta binding protein 3; latent-transforming growth factor beta-binding protein 3 isoform 1 precursor", "tax_id": 9606, "disease": "brachyolmia-amelogenesis imperfecta syndrome (Disease Ontology:DOID:0090143); geleophysic dysplasia 3 (Disease Ontology:DOID:0111727)", "pathway": " (hsa:4054); (R-HSA-2129379); (R-HSA-2173789)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10025398;10424889;10544250;10646116;10743502;10930463;11100470;11104663;11141505;11237011;11390472;11970960;12154076;12358597;12415008;12429738;12482908;1333888;1400330;14701737;15350224;15564041;16157329;1708799;17324935;18339631;18469808;19344874;19720988;20625381;21646718;23090970;23290524;23584533;24190977;25576301;25645385;25813380;27068007;27339457;28904123;29557506;30459171;30779550;31611695;31844290;32157095;32350084;32452514;32938616;33981976;34185709;34411563;34481123;34906192;35051231;35251023;35352826;35580925;37074911;37217939;37394436;39302247;7500359;7534784;7693660;7737999;8047140;8242743;8947046;8980228;9233797;9311995;9346966;9620332;9725916;9865696", "class_list": "", "function": "Common variants in LTBP3 gene contributed to the risk of hip osteoarthritis in Han Chinese population., [RefSeq, PubMed]; Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome., [RefSeq, PubMed]; Key regulator of transforming growth factor beta (TGFB1, TGFB2 and TGFB3) that controls TGF-beta activation by maintaining it in a latent state during storage in extracellular space. Associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGF-beta, and regulates integrin-dependent activation of TGF-beta., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Latent TGFbeta-binding proteins regulate UCP1 expression and function via TGFbeta2., [RefSeq, PubMed]; Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]., [RefSeq]; [IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA]., [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": 2, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "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": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 72, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 2, "glyco_site_count": 26, "binding_glycan_count": 0, "secondary_ac_list": "O15107;Q96HB9;Q9H7K2;Q9UFN4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050431 transforming growth factor beta binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0001527 microfibril", "go_biological_process": "GO:0007179 transforming growth factor beta receptor signaling pathway;GO:1902462 positive regulation of mesenchymal stem cell proliferation;GO:2000741 positive regulation of mesenchymal stem cell differentiation;GO:0045595 regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9NS15-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2H9-1", "uniprot_id": [ { "id": "MAST1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2H9", "type": "external" } ], "mass": 170677.0, "length": 1570, "protein_name": "Microtubule-associated serine/threonine-protein kinase 1", "gene_name": "MAST1", "organism": "Human", "refseq_name": "microtubule-associated serine/threonine-protein kinase 1", "refseq_ac": [ { "id": "NP_055790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055790", "type": "external" } ], "gene_names_uniprotkb": "MAST1; KIAA0973; SAST", "gene_names_refseq": "MAST1; MCCCHCM; SAST", "protein_names_uniprotkb": "Microtubule-associated serine/threonine-protein kinase 1; 2.7.11.1; Syntrophin-associated serine/threonine-protein kinase", "protein_names_refseq": "microtubule-associated serine/threonine-protein kinase 1; syntrophin associated serine/threonine kinase; syntrophin-associated serine/threonine-protein kinase", "tax_id": 9606, "disease": "female breast cancer (Disease Ontology:DOID:0050671); mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (Disease Ontology:DOID:0111403)", "pathway": " (hsa:22983)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10404183;11237011;12614677;17081983;17344846;20068231;22101766;26992070;28121444;28904123;29242379;29351928;29557506;29671580;30379171;30449657;30484775;32157095;32161166;32387766;32488085;32502341;33091337;33298915;33968037;34087483;34357683;35051231;35251023;36010968;38331765;38498222", "class_list": "", "function": "CircMAST1 inhibits cervical cancer progression by hindering the N4-acetylcytidine modification of YAP mRNA. Publication Status: Online-Only, [RefSeq, PubMed]; Discusses cloning of Sast, the mouse ortholog of human MAST1., [RefSeq, PubMed]; Discusses cloning of Sast124, the rat ortholog of MAST1., [RefSeq, PubMed]; Microtubule-associated protein essential for correct brain development (PubMed:30449657). 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 (By similarity)., [UniProtKB, UniProtKB, PubMed]; Overexpression of MAST1 or MAST2 gene fusions has a proliferative effect both in vitro and in vivo in breast cancer cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system. [provided by RefSeq, May 2017]., [RefSeq]; USP28 promotes tumorigenesis and cisplatin resistance by deubiquitinating MAST1 protein in cancer cells. 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": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "O00114;Q8N6X0", "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:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0007010 cytoskeleton organization;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9Y2H9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75145-1", "uniprot_id": [ { "id": "LIPA3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75145", "type": "external" } ], "mass": 133496.0, "length": 1194, "protein_name": "Liprin-alpha-3", "gene_name": "PPFIA3", "organism": "Human", "refseq_name": "liprin-alpha-3", "refseq_ac": [ { "id": "NP_003651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003651", "type": "external" } ], "gene_names_uniprotkb": "PPFIA3; KIAA0654", "gene_names_refseq": "LPNA3; NEDPACH; PPFIA3", "protein_names_uniprotkb": "Liprin-alpha-3; PTPRF-interacting protein alpha-3; Protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3", "protein_names_refseq": "PTPRF interacting protein alpha 3; liprin-alpha-3; liprin; protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3; protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3; protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3", "tax_id": 9606, "disease": "PPFIA3-related neurodevelopmental disorder (MONDO:MONDO:1040014)", "pathway": " (hsa:8541); (R-HSA-181429); (R-HSA-181430); (R-HSA-210500); (R-HSA-212676); (R-HSA-264642); (R-HSA-388844)", "pathway_count": 7, "publication_count": 79, "publication_id_list": "10440375;10620514;11001057;11015561;11027560;11068039;11237011;11242046;11756489;12519779;1339386;15750591;15935055;16116111;16616430;17301226;17478680;17766642;17891149;17989281;18215623;18617632;18669648;19252495;19413330;19690332;20139422;21262467;21940441;22286174;22357843;23124857;23186163;23345436;23363473;23481700;24578174;25385546;25908590;26992070;27143812;27600516;28218747;28228285;28657654;2892215;29331515;29437277;29557506;30315122;30379171;30524438;31154438;31844290;3214421;32157095;32387766;32488085;32938616;32983136;33141586;33968037;34087483;34405274;34509645;35051231;36010968;36241641;36284347;38181735;7796809;7823026;8071310;8095030;8211186;9260930;9624153;9701566;9753324", "class_list": "", "function": "A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Erratum:[Am J Hum Genet. 2024 Apr 4;111(4):805. doi: 10.1016/j.ajhg.2024.03.009. PMID: 38508193], [RefSeq, PubMed]; May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates., [UniProtKB, PubMed]; Results found that OSR2, VAV3, and PPFIA3 were significantly hypermethylated in gastric cancer (GC) patients offering a good alternative in a simple, promising, and noninvasive detection of GC., [RefSeq, PubMed]; The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon guidance and mammary gland development. Liprin family protein has been shown to localize phosphatase LAR to cell focal adhesions and may be involved in the molecular organization of presynaptic active zones. [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": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "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": "A8K142;Q3MJA0;Q9H8B5;Q9UEW4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098831 presynaptic active zone cytoplasmic component;GO:0005829 cytosol;GO:0048786 presynaptic active zone;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0048172 regulation of short-term neuronal synaptic plasticity;GO:0050808 synapse organization;GO:0007269 neurotransmitter secretion;GO:0016081 synaptic vesicle docking", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O75145-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CW19-1", "uniprot_id": [ { "id": "LIMS3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CW19", "type": "external" } ], "mass": 13251.0, "length": 117, "protein_name": "LIM and senescent cell antigen-like-containing domain protein 3", "gene_name": "LIMS3", "organism": "Human", "refseq_name": "LIM and senescent cell antigen-like-containing domain protein 3 isoform a", "refseq_ac": [ { "id": "NP_277049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_277049", "type": "external" } ], "gene_names_uniprotkb": "LIMS3; LIMS4; PINCH3", "gene_names_refseq": "LIMS3; PINCH-3", "protein_names_uniprotkb": "LIM and senescent cell antigen-like-containing domain protein 3; PINCH-3; Particularly interesting new Cys-His protein 3", "protein_names_refseq": "LIM and senescent cell antigen-like domains 3; LIM and senescent cell antigen-like-containing domain protein 3 isoform a; LIM and senescent cell antigen-like-containing domain protein 3; LIM-type zinc finger domains 3; particularly interesting new Cys-His protein 3; pinch 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288695); (hsa:96626)", "pathway_count": 2, "publication_count": 3, "publication_id_list": "11237011;17435276;31844290", "class_list": "", "function": "The full length of its cDNA was 963 bp, with a 354-bp open reading frame (ORF), encoding a 117-amino acid protein. PINCH 2 was a splicing isoform of PINCH., [RefSeq, PubMed]; Within the IPP (ILK-PINCH-PARVIN) complex, binds to F-actin, promoting F-actin bundling, a process required to generate force for actin cytoskeleton reorganization and subsequent dynamic cell adhesion events such as cell spreading and migration., [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": "A0A0A6YYD2;B4DPH6;Q9HB10", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005925 focal adhesion", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0009967 positive regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0CW19-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DC8-1", "uniprot_id": [ { "id": "ECHD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DC8", "type": "external" } ], "mass": 32634.0, "length": 303, "protein_name": "Enoyl-CoA hydratase domain-containing protein 3, mitochondrial", "gene_name": "ECHDC3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ECHDC3; PP1494; PP8332", "gene_names_refseq": "", "protein_names_uniprotkb": "Enoyl-CoA hydratase domain-containing protein 3, mitochondrial", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:79746)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;15498874;27586541;31010960;35051231", "class_list": "", "function": "May play a role in fatty acid biosynthesis and insulin sensitivity., [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": 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": "Q53HR9;Q5W0J7;Q8WYY8;Q9BVL8;Q9H7G4", "ec_number_list": [], "go_molecular_function": "GO:0004300 enoyl-CoA hydratase activity;GO:0016836 hydro-lyase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:1900078 positive regulation of cellular response to insulin stimulus;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q96DC8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQQ2-1", "uniprot_id": [ { "id": "SH2B3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQQ2", "type": "external" } ], "mass": 63225.0, "length": 575, "protein_name": "SH2B adapter protein 3", "gene_name": "SH2B3", "organism": "Human", "refseq_name": "SH2B adapter protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001278353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278353", "type": "external" } ], "gene_names_uniprotkb": "SH2B3; LNK", "gene_names_refseq": "IDDM20; LNK; SH2B3", "protein_names_uniprotkb": "SH2B adapter protein 3; Lymphocyte adapter protein; Lymphocyte-specific adapter protein Lnk; Signal transduction protein Lnk", "protein_names_refseq": "SH2B adapter protein 3 isoform 2; lymphocyte-specific adapter protein Lnk; signal transduction protein Lnk", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 220-kb (Disease Ontology:DOID:0060398); familial erythrocytosis 1 (Disease Ontology:DOID:0060652); colorectal carcinoma (Disease Ontology:DOID:0080199); celiac disease (Disease Ontology:DOID:10608); hypertension (Disease Ontology:DOID:10763); essential thrombocythemia (Disease Ontology:DOID:2224); myelofibrosis (Disease Ontology:DOID:4971); chronic myeloid leukemia (Disease Ontology:DOID:8552); colorectal cancer (Disease Ontology:DOID:9256); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:10019); (R-HSA-1433559); (R-HSA-9706369); (R-HSA-983231)", "pathway_count": 4, "publication_count": 114, "publication_id_list": "10374881;10799879;11042108;11062261;11237011;11242053;11744692;11751636;11895428;11950885;11994499;12024036;12032298;12134158;12427746;12444928;15020713;15247287;15710388;16054028;16129412;1630448;16684964;16780420;17027967;17110436;17196961;17446348;17554260;17904548;18192505;18311140;18588518;19276253;19293402;19651622;20530532;20627800;20843259;21072051;21262971;21406692;218813;22438257;22942183;22952242;23186163;23300935;23481700;23548639;23707526;24705897;24715725;25418920;26154972;26308771;26845023;26992070;27111338;27458164;27600516;27666490;28086240;28218747;28611190;28832583;28904123;29242379;29331515;29437277;29508533;29557506;29769354;29880609;31066629;31844290;31848261;31937595;32157095;32357974;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;33981976;3409321;34211107;35051231;35318648;37938771;37981895;38152053;38377486;38417019;38723947;7520444;7539802;7684496;8662638;8816476;9065479;9169414;9230307;9326583;9331217;9422515;9528781;9927674", "class_list": "", "function": "Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder. Publication Status: Online-Only, [RefSeq, PubMed]; LNK/SH2B3 as a novel driver in juvenile myelomonocytic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; LNK/SH2B3 loss of function increases susceptibility to murine and human atrial fibrillation., [RefSeq, PubMed]; Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase., [UniProtKB]; Negative regulation of SH2B3 by SMYD5 controls epithelial-mesenchymal transition in lung cancer., [RefSeq, PubMed]; Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity., [RefSeq, PubMed]; This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 10, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EGG5;O95184", "ec_number_list": [], "go_molecular_function": "GO:0005173 stem cell factor receptor binding;GO:0030159 signaling receptor complex adaptor activity;GO:1990782 protein tyrosine kinase binding;GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:1990869 cellular response to chemokine;GO:0035162 embryonic hemopoiesis;GO:0070100 negative regulation of chemokine-mediated signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q9UQQ2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61626-1", "uniprot_id": [ { "id": "LYSC_HUMAN", "url": "https://www.uniprot.org/uniprot/P61626", "type": "external" } ], "mass": 16537.0, "length": 148, "protein_name": "Lysozyme C", "gene_name": "LYZ", "organism": "Human", "refseq_name": "lysozyme C precursor", "refseq_ac": [ { "id": "NP_000230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000230", "type": "external" } ], "gene_names_uniprotkb": "LYZ; LZM", "gene_names_refseq": "AMYLD5; LYZF1; LYZ; LZM", "protein_names_uniprotkb": "Lysozyme C; 1,4-beta-N-acetylmuramidase C; 3.2.1.17", "protein_names_refseq": "1,4-beta-N-acetylmuramidase C; c-type lysozyme; lysozyme C precursor; lysozyme C; lysozyme F1", "tax_id": 9606, "disease": "amyloidosis, hereditary systemic 5 (MONDO:MONDO:0971009)", "pathway": " (hsa:4069); (R-HSA-6798695); (R-HSA-6803157); (R-HSA-977225)", "pathway_count": 4, "publication_count": 169, "publication_id_list": "10097139;10319874;10391242;10411933;10534505;10583407;10956649;11120840;11237011;11278841;11313366;11389039;11401442;11467836;11590439;11849445;118839;11946553;11946554;11971875;12360495;12454989;12493837;12675840;1270801;13816;14506261;14506276;14567678;14739326;15064394;1522221;15229136;15745733;15778384;15826377;15956276;15962837;16054449;16174740;16215847;16336202;16354652;16354654;16374474;16416029;16523055;16799473;16799559;16931762;16940129;17363965;17425515;17502600;17567961;1794972;17964057;18021746;18065497;18070888;1808634;18160480;18185531;1837051;18449172;18484335;1849145;18673279;19011241;19095652;19179970;19254208;19658395;19818633;19828817;20103720;20180804;20382864;20395631;20510021;2061330;20676056;20807650;20845358;2118650;21787330;2195544;22065755;2207098;22131221;22262861;22327069;22455996;22701042;23302724;23426625;23650620;23813966;2409350;24219363;24256734;24833601;24893886;25075772;25461571;2546758;25523424;25596890;25946035;26018760;26148048;26375851;26417681;26668317;26686862;26807092;27089320;279930;2829884;2900981;29393594;29557506;2971592;29786170;3035556;30429286;3053705;3080684;3094007;3142462;31694163;31978114;32157095;32522553;3286634;32983136;33043033;33392160;33640796;34019948;3413092;34171305;35051231;35580925;3675579;37402649;38665916;5168859;5284421;6876162;7111672;7334520;8033412;8097946;8114934;8159701;8464497;8490014;8503881;8566845;8692836;8870004;9006323;9054935;9523110;9665269;9756476;9757091;9862427", "class_list": "glycogene;glycosylhydrolase", "function": "Analyses of displacements resulting from a point mutation in proteins., [RefSeq, PubMed]; Characterisation of the structural, dynamic and aggregation properties of the W64R amyloidogenic variant of human lysozyme., [RefSeq, PubMed]; Length and saturation of fatty acids in phosphatidylserine determine the rate of lysozyme aggregation simultaneously altering the structure and toxicity of amyloid oligomers and fibrils., [RefSeq, PubMed]; Lysozyme functions as an antimicrobial peptide, with antibacterial activity. Review article, [RefSeq, PubMed]; Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents., [UniProtKB]; Serum amyloid P component promotes formation of distinct aggregated lysozyme morphologies and reduces toxicity in Drosophila flies expressing human F57I lysozyme. Publication Status: Online-Only, [RefSeq, PubMed]; These results of the RNA-seq experiment show that lysozyme induces transcriptional modulation of the TNF-alpha/IL-1beta pathway genes in U937 monocytes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human milk, and is also present in spleen, lung, kidney, white blood cells, plasma, saliva, and tears. The protein has antibacterial activity against a number of bacterial species. Missense mutations in this gene have been identified in heritable renal amyloidosis. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 175, "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": "P00695;Q13170;Q9UCF8", "ec_number_list": [ { "id": "1.8.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.3.2", "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": "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": "1.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.2.2", "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": "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": "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": "3.2.1.31", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.31", "type": "external" }, { "id": "3.4.21.37", 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"url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.26", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.21.76", "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "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": "2.7.10.2", "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": "3.6.1.-", "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": "2.3.3.8", "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": "3.1.1.-", 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"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": "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": "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": "3.5.4.4", "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": "3.4.14.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.2", "type": "external" }, { "id": "3.2.1.166", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.166", "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:0042802 identical protein binding;GO:0003796 lysozyme activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0070062 extracellular exosome;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006954 inflammatory response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0042742 defense response to bacterium;GO:0031640 killing of cells of another organism", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "P61626-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AY2-1", "uniprot_id": [ { "id": "EME1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AY2", "type": "external" } ], "mass": 63252.0, "length": 570, "protein_name": "Structure-specific endonuclease subunit EME1", "gene_name": "EME1", "organism": "Human", "refseq_name": "structure-specific endonuclease subunit EME1 isoform 1", "refseq_ac": [ { "id": "NP_001159603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159603", "type": "external" } ], "gene_names_uniprotkb": "EME1; MMS4", "gene_names_refseq": "EME1; MMS4L; SLX2A", "protein_names_uniprotkb": "Structure-specific endonuclease subunit EME1; Crossover junction endonuclease EME1; Essential meiotic structure-specific endonuclease 1; MMS4 homolog; hMMS4", "protein_names_refseq": "MMS4 homolog; SLX2 structure-specific endonuclease subunit homolog A; crossover junction endonuclease EME1; essential meiotic endonuclease 1 homolog 1; essential meiotic endonuclease 1 homolog 2; hMMS4; homolog of yeast EME1 endonuclease; structure-specific endonuclease subunit EME1 isoform 1; structure-specific endonuclease subunit EME1", "tax_id": 9606, "disease": "", "pathway": " (hsa:146956); (R-HSA-5693568); (R-HSA-6783310)", "pathway_count": 3, "publication_count": 94, "publication_id_list": "11237011;11239454;12686547;12721304;14527420;14617801;15302935;15572677;16456034;16916645;16943440;17081983;17289582;17412408;17460694;17938197;18082604;18174376;18220336;18452278;18669648;18931676;19111657;19413330;19561358;19589784;19596236;19651622;19664995;19690332;19995904;20068231;20102227;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;20965415;21406692;21464321;21701511;21764741;22258451;22287633;22396592;22510687;22645308;22692201;23186163;23325218;23509288;23698467;23720674;23723247;23754376;24076221;24371268;24389026;24509834;24623813;24726325;24733841;24813886;24831703;24905007;25430771;25500724;28832583;28855257;28904123;29242379;29557506;29608566;29850896;30484775;31217245;31844290;32157095;32350084;32488085;32502341;33298441;33912179;34087483;34171305;35051231;35290797;36215666;36241641;39015284", "class_list": "", "function": "EME-1 deficiency affects cell cycle progression and promotes DNA rereplication. Publication Status: Online-Only, [RefSeq, PubMed]; EME1 is regulated by CK2 in mitosis and after replication stress., [RefSeq, PubMed]; Mus81-Eme1-dependent aberrant processing of DNA replication intermediates in mitosis impairs genome integrity. Publication Status: Online-Only, [RefSeq, PubMed]; Non-catalytic subunit of the structure-specific, heterodimeric DNA endonuclease MUS81-EME1 which is involved in the maintenance of genome stability. In the complex, EME1 is required for DNA cleavage, participating in DNA recognition and bending (PubMed:12686547, PubMed:12721304, PubMed:14617801, PubMed:17289582, PubMed:24733841, PubMed:24813886, PubMed:35290797, PubMed:39015284). MUS81-EME1 cleaves 3'-flaps and nicked Holliday junctions, and exhibit limited endonuclease activity with 5' flaps and nicked double-stranded DNAs (PubMed:24733841, PubMed:35290797). Active during prometaphase, MUS81-EME1 resolves mitotic recombination intermediates, including Holliday junctions, which form during homologous recombination (PubMed:14617801, PubMed:24813886)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q96N62", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000228 nuclear chromosome;GO:0000792 heterochromatin", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0006302 double-strand break repair;GO:0031573 mitotic intra-S DNA damage checkpoint signaling;GO:0072429 response to intra-S DNA damage checkpoint signaling;GO:0031297 replication fork processing", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q96AY2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0I2-1", "uniprot_id": [ { "id": "EMC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0I2", "type": "external" } ], "mass": 29952.0, "length": 261, "protein_name": "ER membrane protein complex subunit 3", "gene_name": "EMC3", "organism": "Human", "refseq_name": "ER membrane protein complex subunit 3", "refseq_ac": [ { "id": "NP_060917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060917", "type": "external" } ], "gene_names_uniprotkb": "EMC3; TMEM111", "gene_names_refseq": "EMC3; POB; TMEM111", "protein_names_uniprotkb": "ER membrane protein complex subunit 3; Transmembrane protein 111", "protein_names_refseq": "30 kDa protein; ER membrane protein complex subunit 3; partial optokinetic response b; transmembrane protein 111", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155)", "pathway": " (hsa:55831); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 227, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;10931946;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;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18802091;18829452;19494238;19605563;19635168;19673492;19713215;20030946;20068231;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22119785;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24715725;24933155;25211221;25418920;25576301;25645385;25704760;25802875;25892735;26154972;26371245;26529257;26758079;26811146;26887924;26992070;27145964;27216196;27481945;27543614;27846572;27862975;27920218;27986909;28112683;28196833;28218747;28584191;28649982;28832583;28834231;28855257;28904123;29146911;29242231;29242379;29437277;29557506;29632046;29769354;29786170;29809151;30315122;30410026;30415835;30484775;30779550;31092671;31105010;31154438;31530632;31844290;31848261;31871319;31937595;31998317;32157095;32161166;32203420;32357974;32387766;32439656;32459176;32488085;32938616;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36581221;37938771;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": "Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32439656, PubMed:32459176). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:29242231, PubMed:29809151, PubMed:30415835). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:29809151, PubMed:30415835). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29242231, PubMed:29809151). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable)., [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": 11, "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": "B2R4Z9;Q53GH8;Q6ZMC2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0072546 EMC complex;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071816 tail-anchored membrane protein insertion into ER membrane;GO:0045050 protein insertion into ER membrane by stop-transfer membrane-anchor sequence", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q9P0I2-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76021-1", "uniprot_id": [ { "id": "RL1D1_HUMAN", "url": "https://www.uniprot.org/uniprot/O76021", "type": "external" } ], "mass": 54973.0, "length": 490, "protein_name": "Ribosomal L1 domain-containing protein 1", "gene_name": "RSL1D1", "organism": "Human", "refseq_name": "ribosomal L1 domain-containing protein 1", "refseq_ac": [ { "id": "NP_056474", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056474", "type": "external" } ], "gene_names_uniprotkb": "RSL1D1; CATX11; CSIG; L12; PBK1", "gene_names_refseq": "CSIG; Cic1; L12; PBK1; RSL1D1; UTP30", "protein_names_uniprotkb": "Ribosomal L1 domain-containing protein 1; CATX-11; Cellular senescence-inhibited gene protein; Protein PBK1", "protein_names_refseq": "CATX-11; cellular senescence-inhibited gene protein; ribosomal L1 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26156)", "pathway_count": 1, "publication_count": 146, "publication_id_list": "11237011;11790298;12429849;15334068;16083285;16565220;16964243;17074750;17081983;17322306;17924679;18212344;18446792;18452278;18491316;18578522;18669648;18678645;18691976;18707149;18767875;18991276;19007248;19367720;19413330;19415658;19562805;19608861;19651622;19664994;19664995;19690332;19691289;20058876;20068231;20230923;21406692;22121020;22223895;22419112;22424782;22645359;22898188;23186163;23481700;23783831;24366607;24715725;25218447;25576301;25645385;26154972;26375851;26768311;26992070;27543614;27600516;27846572;27862975;27893789;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30444036;30524438;30779550;31154438;31217245;31222486;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32522876;32870666;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33465208;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34362424;34405274;34509645;34561969;34725712;34932366;35013134;35051231;35083852;35251023;35561310;35580925;35597299;36010968;36215666;36241641;36284347;36913375;37217939;37938771;38665916;39395807;40596516;40914422;9859858", "class_list": "", "function": "Mutations in DNA binding domain of p53 impede RSL1D1-p53 interaction to escape from degradation in human colorectal cancer cells., [RefSeq, PubMed]; RSL1D1 knockdown induces ferroptosis and mediates ferrous iron accumulation in senescent cells by inhibiting FTH1 mRNA stability., [RefSeq, PubMed]; RSL1D1 promotes the progression of colorectal cancer through RAN-mediated autophagy suppression. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates cellular senescence through inhibition of PTEN translation. Acts as a pro-apoptotic regulator in response to DNA damage., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ribosomal L1 domain-containing protein 1 coordinates with HDM2 to negatively regulate p53 in human colorectal Cancer 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": 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": 25, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DJ58;D3DUG7;Q2M1T7;Q6PL22;Q8IWS7;Q8WUZ1;Q9HDA9;Q9Y3Z9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0003730 mRNA 3'-UTR binding;GO:0048027 mRNA 5'-UTR binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0016020 membrane", "go_biological_process": "GO:0032880 regulation of protein localization;GO:0042981 regulation of apoptotic process;GO:0001649 osteoblast differentiation;GO:2000772 regulation of cellular senescence", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "O76021-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YS3-1", "uniprot_id": [ { "id": "RFIP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YS3", "type": "external" } ], "mass": 71928.0, "length": 637, "protein_name": "Rab11 family-interacting protein 4", "gene_name": "RAB11FIP4", "organism": "Human", "refseq_name": "rab11 family-interacting protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001290471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290471", "type": "external" } ], "gene_names_uniprotkb": "RAB11FIP4; ARFO2; KIAA1821", "gene_names_refseq": "FIP4-Rab11; RAB11-FIP4; RAB11FIP4", "protein_names_uniprotkb": "Rab11 family-interacting protein 4; Arfophilin-2; FIP4-Rab11; Rab11-FIP4", "protein_names_refseq": "RAB11 family interacting protein 4 (class II); arfophilin-2; rab11 family-interacting protein 4 isoform 2; rab11 family-interacting protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84440)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;11944901;12470645;12696059;12857874;15601896;16148947;19664994;19761540;20682791;23481700;25418920;25576301;25745995;27920218;28035375;28832583;28904123;29242379;29257314;29314611;29493099;29632711;31154438;31530632;31844290;31998317;32157095;32357974;32938616;33141586;33298915;33691108;33912179;33981976;34087483;34171305;34211107;35051231", "class_list": "", "function": "Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abscission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis. In case of infection by HCMV (human cytomegalovirus), may participate in egress of the virus out of nucleus; this function is independent of ARF6., [UniProtKB, PubMed]; Our findings suggest that overexpression of Rab11-FIP4 predicts poor clinical outcomes for pancreatic cancer and contributes to pancreatic tumor progression., [RefSeq, PubMed]; Rab11-FIP4 expression promotes migration and invasion of colon cancer cells and correlates with poor prognosis., [RefSeq, PubMed]; Rab11-FIP4 interacts with Rab11 in a GTP-dependent manner and its overexpression condenses the Rab11 positive compartment in HeLa cells., [RefSeq, PubMed]; Results show the expression of Rab11-FIP4 upregulated in hepatocellular carcinoma (HCC) and correlated with poor prognosis. Rab11-FIP4 dramatically contributed to HCC metastasis via phosphorylation of PRAS40., [RefSeq, PubMed]; The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q52LI1;Q8N829;Q8NDT7;Q969D8", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005768 endosome;GO:0005813 centrosome;GO:0005819 spindle;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0032456 endocytic recycling;GO:0032465 regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q86YS3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2T7-1", "uniprot_id": [ { "id": "RBP17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2T7", "type": "external" } ], "mass": 124375.0, "length": 1088, "protein_name": "Ran-binding protein 17", "gene_name": "RANBP17", "organism": "Human", "refseq_name": "ran-binding protein 17", "refseq_ac": [ { "id": "NP_075048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075048", "type": "external" } ], "gene_names_uniprotkb": "RANBP17", "gene_names_refseq": "RANBP17", "protein_names_uniprotkb": "Ran-binding protein 17", "protein_names_refseq": "ran-binding protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:64901)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11024021;11071879;11237011;19913121;20058876;20068231;20503194;20628086;25576301;26154972;27600516;29557506;30379171;30833945;31154438;31844290;32161166;32387766;32938616;33392160;35051231;35850701;37217939;38438257", "class_list": "", "function": "May function as a nuclear transport receptor., [UniProtKB]; 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]; RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons. Publication Status: Online-Only, [RefSeq, PubMed]; The importin beta superfamily member RanBP17 exhibits a role in cell proliferation and is associated with improved survival of patients with HPV+ HNSCC. Publication Status: Online-Only, [RefSeq, PubMed]; The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]., [RefSeq]; These biochemical and functional data reveal RANBP16 and RANBP17 as novel regulators of E2A protein action, and demonstrate specific interaction of E12 with RANBP17., [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": 27, "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": "Q8IU74", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding;GO:0031267 small GTPase binding;GO:0005049 nuclear export signal receptor activity", "go_cellular_component": "GO:0005643 nuclear pore;GO:0005737 cytoplasm;GO:0005634 nucleus", "go_biological_process": "GO:0006611 protein export from nucleus;GO:0051028 mRNA transport;GO:0006606 protein import into nucleus;GO:0006886 intracellular protein transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9H2T7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZP29-1", "uniprot_id": [ { "id": "LAAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZP29", "type": "external" } ], "mass": 31947.0, "length": 291, "protein_name": "Lysosomal amino acid transporter 1 homolog", "gene_name": "SLC66A1", "organism": "Human", "refseq_name": "lysosomal amino acid transporter 1 homolog isoform 1", "refseq_ac": [ { "id": "NP_001035214", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035214", "type": "external" } ], "gene_names_uniprotkb": "SLC66A1; PQLC2", "gene_names_refseq": "LAAT-1; LAAT1; PQLC2; SLC66A1", "protein_names_uniprotkb": "Lysosomal amino acid transporter 1 homolog; PQ-loop repeat-containing protein 2; Solute carrier family 66 member 1", "protein_names_refseq": "PQ loop repeat containing 2; PQ-loop repeat-containing protein 2; lysosomal amino acid transporter 1 homolog isoform 1; lysosomal amino acid transporter 1 homolog", "tax_id": 9606, "disease": "lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:54896); (R-HSA-5223345)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10571941;11237011;11326272;11326338;11401429;12297987;12297989;12951058;13130483;14984739;15804357;17166836;18057121;18347014;1840603;18930737;19262752;1955075;19717468;22119785;22649030;22822152;23169667;23783831;24725410;24790029;26620797;26635246;26811146;26824658;27102039;27846572;27920218;28218747;28904123;29242379;29557506;30729615;31154438;31611695;31844290;32157095;32350084;32387766;32488085;32502341;32938616;33597295;33912179;33968037;34357683;34509645;35154160;35251023;35580925;4018271;7615546;7619062;7749638;9114041;9537412", "class_list": "", "function": "Amino acid transporter that specifically mediates the pH-dependent export of the cationic amino acids arginine, histidine and lysine from lysosomes., [UniProtKB, PubMed, PubMed]; Knockdown caused growth arrest and cell death of cancer cells and suppressed tumor growth in a mouse xenograft model. These results suggest that targeting PQLC2 is an effective strategy for GC treatment., [RefSeq, PubMed]; PQLC2 and Ypq1-3 proteins are lysosomal/vacuolar exporters of CAAs and suggest that small-molecule transport is a conserved feature of the PQ-loop protein family Erratum:[Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):3197], [RefSeq, PubMed]; Receptor-like role for PQLC2 amino acid transporter in the lysosomal sensing of cationic amino acids., [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": "B3KWQ5;Q6ZMJ3;Q6ZP27;Q9NXC7", "ec_number_list": [], "go_molecular_function": "GO:0015174 basic amino acid transmembrane transporter activity;GO:0015189 L-lysine transmembrane transporter activity;GO:0005290 L-histidine transmembrane transporter activity;GO:0061459 L-arginine transmembrane transporter activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0031090 organelle membrane;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0015819 lysine transport;GO:0080144 intracellular amino acid homeostasis;GO:0089709 L-histidine transmembrane transport;GO:1903401 L-lysine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q6ZP29-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NED2-1", "uniprot_id": [ { "id": "RCCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NED2", "type": "external" } ], "mass": 40079.0, "length": 376, "protein_name": "RCC1 domain-containing protein 1", "gene_name": "RCCD1", "organism": "Human", "refseq_name": "RCC1 domain-containing protein 1", "refseq_ac": [ { "id": "NP_001017919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017919", "type": "external" } ], "gene_names_uniprotkb": "RCCD1", "gene_names_refseq": "RCCD1", "protein_names_uniprotkb": "RCC1 domain-containing protein 1", "protein_names_refseq": "RCC1 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91433); (R-HSA-9629569)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11237011;1378441;15676025;17947579;1856229;19574390;19819225;20112406;20684070;21060799;22851697;23103944;23303181;23481700;24100311;24486019;24550447;24550462;24550463;24715725;24981860;25576301;25728928;25892735;26154972;26992070;27846572;27920218;28063628;28218747;28228285;28362817;28455245;28514659;28832583;28904123;28982940;29242379;29393594;29437277;29563586;29632046;29914368;29915238;30315122;30410026;30484775;31217245;31582214;31844290;31937595;31998317;32157095;32502341;32938616;33141586;33298915;33912179;33968037;34171305;34211107;34561969;36241641;37340703;6688526", "class_list": "", "function": "Expression of RCCD1 in whole blood was also suggestively associated with disease risk (p-value: 1.2x10-05), as were expression of ACAP1 (p-value: 1.9x10-05) and LRRC25 (p-value: 5.2x10-05). While genome-wide association studies (GWAS) have implicated RCCD1 and ANKLE1 in breast cancer risk, they have not identified the remaining three genes Publication Status: Online-Only, [RefSeq, PubMed]; JMJD5 catalyzes stereoselective C-3 hydroxylation of arginine residues in sequences from human RCCD1 and ribosomal protein S6. Erratum:[Nat Commun. 2018 Apr 23;9(1):1675. doi: 10.1038/s41467-018-04196-7. PMID: 29686330] Publication Status: Online-Only, [RefSeq, PubMed]; MiR-519b-3p binds to LINC01419 and has a role in upregulating RCCD1 in lung adenocarcinoma cells, [RefSeq, PubMed]; Plays a role in transcriptional repression of satellite repeats, possibly by regulating H3K36 methylation levels in centromeric regions together with KDM8 (PubMed:24981860). Possibly together with KDM8, is involved in proper mitotic spindle organization and chromosome segregation (PubMed:24981860). Plays a role in regulating alpha-tubulin deacetylation and cytoskeletal microtubule stability, thereby promoting cell migration and TGF-beta-induced epithelial to mesenchymal transition (EMT), potentially through the inhibition of KDM8 (PubMed:28455245)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; RCCD1 and KDM8 form a histone demethylase complex., [RefSeq, PubMed]; RCCD1 as a novel regulator of TGF-beta-induced epithelial mesenchymal transformation and cell migration in non-small lung carcinoma cells., [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": 0, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RTP9;Q29RX6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005694 chromosome", "go_biological_process": "GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "A6NED2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15283-1", "uniprot_id": [ { "id": "RASA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15283", "type": "external" } ], "mass": 96614.0, "length": 850, "protein_name": "Ras GTPase-activating protein 2", "gene_name": "RASA2", "organism": "Human", "refseq_name": "ras GTPase-activating protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001290174", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290174", "type": "external" } ], "gene_names_uniprotkb": "RASA2; GAP1M; RASGAP", "gene_names_refseq": "GAP1M; RASA2", "protein_names_uniprotkb": "Ras GTPase-activating protein 2; GAP1m; GTPase-activating protein 1m", "protein_names_refseq": "GTPase-activating protein 1m; GTPase-activating protein of RAS; ras GTPase-activating protein 2 isoform 2; ras GTPase-activating protein 2", "tax_id": 9606, "disease": "Noonan syndrome (Disease Ontology:DOID:3490)", "pathway": " (hsa:5922); (R-HSA-5658442)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "11237011;11493923;12600938;12646235;12787671;15683364;1570011;16478641;19573811;2121370;22223895;22751498;22802525;23443682;23661552;24814062;25505266;25576301;25892735;26992070;28832583;29242379;29557506;29632711;29769354;31217245;31298226;31844290;32157095;32161166;32387766;32938616;32983136;33717175;33968037;34270706;35051231;35580925;36002574;36010968;36215666;36581221;37153995;37217939;40914422;8563751;8812506;8917095;9219684;9302992;9382842", "class_list": "", "function": "Authors found that knockdown of RASA2 inhibited MTC cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5., [RefSeq, PubMed]; Inhibitory regulator of the Ras-cyclic AMP pathway. Binds inositol tetrakisphosphate (IP4)., [UniProtKB]; RASA2 ablation in T cells boosts antigen sensitivity and long-term function., [RefSeq, PubMed]; The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [RefSeq]; [Effect of circRASA2 targeting miR-543/TRAF6 axis on LPS-induced periodontal ligament cell proliferation and osteogenic differentiation]., [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": 6, "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": "A8K7K1;G3V0F9;O00695;Q15284;Q92594;Q99577;Q9UEQ2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0007165 signal transduction;GO:0035556 intracellular signal transduction;GO:1902531 regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q15283-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHF1-1", "uniprot_id": [ { "id": "EGFL7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHF1", "type": "external" } ], "mass": 29618.0, "length": 273, "protein_name": "Epidermal growth factor-like protein 7", "gene_name": "EGFL7", "organism": "Human", "refseq_name": "epidermal growth factor-like protein 7 precursor", "refseq_ac": [ { "id": "NP_057299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057299", "type": "external" } ], "gene_names_uniprotkb": "EGFL7; MEGF7; PRO1449", "gene_names_refseq": "EGFL7; NEU1; VE-STATIN; ZNEU1", "protein_names_uniprotkb": "Epidermal growth factor-like protein 7; EGF-like protein 7; Multiple EGF-like domains protein 7; Multiple epidermal growth factor-like domains protein 7; NOTCH4-like protein; VE-statin; Vascular endothelial statin; Zneu1", "protein_names_refseq": "EGF-like protein 7; NOTCH4-like protein; epidermal growth factor-like protein 7 precursor; epidermal growth factor-like protein 7; multiple EGF-like domains protein 7; multiple epidermal growth factor-like domains protein 7; vascular endothelial statin", "tax_id": 9606, "disease": "", "pathway": " (hsa:51162)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10.1038/emboj.2013.79;11237011;12975309;14592969;17934064;18193184;23386126;23584533;23639441;25813380;31611695;32161166;32350084;32387766;32938616;34411563;34509645;34738625;35251023;35630004;36309484;37209901;37957249", "class_list": "", "function": "EGF repeats of epidermal growth factorlike domain 7 promote endothelial cell activation and tumor escape from the immune system., [RefSeq, PubMed]; EGFL7 drives the evolution of resistance to EGFR inhibitors in lung cancer by activating NOTCH signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Epidermal growth factor-like 7 is a novel therapeutic target in mantle cell lymphoma., [RefSeq, PubMed]; Human EGFL7 may protect endothelial cell from hyperoxia-induced apoptosis by inhibition of mitochondria-dependent apoptosis pathway., [RefSeq, PubMed]; Impact of Activation of EGFL7 within Microenvironment of High Grade Ovarian Serous Carcinoma on Infiltration of CD4+ and CD8+ Lymphocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Intronic miRNAs from tissue-specific transcripts, or their natural absence, make cardinal contributions to cellular gene expression and phenotype., [RefSeq, PubMed]; Is the first identified inhibitor of mural cell migration specifically produced by endothelial cells., [RefSeq, PubMed]; Low EGFL7 expression is associated with high lymph node spread and invasion of lymphatic vessels in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates vascular tubulogenesis in vivo. Inhibits platelet-derived growth factor (PDGF)-BB-induced smooth muscle cell migration and promotes endothelial cell adhesion to the extracellular matrix and angiogenesis., [UniProtKB, PubMed, PubMed]; This gene encodes a secreted endothelial cell protein that contains two epidermal growth factor-like domains. The encoded protein may play a role in regulating vasculogenesis. This protein may be involved in the growth and proliferation of tumor cells. Alternate 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": 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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KRP0;M9VTX9;Q5M7Y5;Q5VUD5;Q96EG0", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0001525 angiogenesis;GO:0001570 vasculogenesis;GO:0007155 cell adhesion;GO:0001568 blood vessel development;GO:0001938 positive regulation of endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9UHF1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95868-1", "uniprot_id": [ { "id": "LY66D_HUMAN", "url": "https://www.uniprot.org/uniprot/O95868", "type": "external" } ], "mass": 13691.0, "length": 133, "protein_name": "Lymphocyte antigen 6 complex locus protein G6d", "gene_name": "LY6G6D", "organism": "Human", "refseq_name": "lymphocyte antigen 6 complex locus protein G6d precursor", "refseq_ac": [ { "id": "NP_067069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067069", "type": "external" } ], "gene_names_uniprotkb": "LY6G6D; C6orf23; G6D; MEGT1; NG25", "gene_names_refseq": "C6orf23; G6D; LY6-D; LY6G6D; MEGT1; NG25", "protein_names_uniprotkb": "Lymphocyte antigen 6 complex locus protein G6d; Megakaryocyte-enhanced gene transcript 1 protein; Protein Ly6-D", "protein_names_refseq": "lymphocyte antigen 6 complex locus protein G6d precursor; lymphocyte antigen 6 complex locus protein G6d; lymphocyte antigen 6 complex, locus G6D; lymphocyte antigen-6 G6D; megakaryocyte-enhanced gene transcript 1 protein; protein Ly6-D", "tax_id": 9606, "disease": "", "pathway": " (hsa:58530); (R-HSA-163125)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10384126;11072085;11237011;12079290;14656967;17008713;19423540;19807019;2443973;29557506;30670049;3422494;35364611;36159851;38836687", "class_list": "", "function": "Combined targeting of STAT5 and MAPK pathways has superior therapeutic effects on immune resistance. In addition, the new identified LY6G6D antigen is a promising molecular target for human microsatellite-stable colorectal cancers Publication Status: Online-Only, [RefSeq, PubMed]; Decoding LY6G6D in colorectal cancer: Unraveling biomarker potential and therapeutic insights. Publication Status: Online-Only, [RefSeq, PubMed]; Frequencies of the DRB1, DQA1, DQB1 and TNFA alleles in immigrant population of West Siberia, [RefSeq, PubMed]; LY6G6D belongs to a cluster of leukocyte antigen-6 (LY6) genes located in the major histocompatibility complex (MHC) class III region on chromosome 6. Members of the LY6 superfamily typically contain 70 to 80 amino acids, including 8 to 10 cysteines. Most LY6 proteins are attached to the cell surface by a glycosylphosphatidylinositol (GPI) anchor that is directly involved in signal transduction (Mallya et al., 2002 [PubMed 12079290]).[supplied by OMIM, Apr 2009]., [RefSeq]; LY6G6D is a selectively expressed colorectal cancer antigen that can be used for targeting a therapeutic T-cell response by a T-cell engager. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [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": 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": "A2BEY8;B0UXC1;B0V019;B0V1Y6;Q4VX50", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0030550 acetylcholine receptor inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0009897 external side of plasma membrane;GO:0030175 filopodium", "go_biological_process": "GO:0095500 acetylcholine receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O95868-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XZB0-1", "uniprot_id": [ { "id": "LIPI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XZB0", "type": "external" } ], "mass": 52922.0, "length": 460, "protein_name": "Lipase member I", "gene_name": "LIPI", "organism": "Human", "refseq_name": "lipase member I isoform 1 precursor", "refseq_ac": [ { "id": "NP_001289927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001289927", "type": "external" } ], "gene_names_uniprotkb": "LIPI; LPDL; PRED5", "gene_names_refseq": "CT17; LIPI; LPDL; PLA1C; PRED5; mPA-PLA1 beta", "protein_names_uniprotkb": "Lipase member I; 3.1.1.-; CT17; Cancer/testis antigen 17; LIPI; LPD lipase; Membrane-associated phosphatidic acid-selective phospholipase A1-beta; mPA-PLA1 beta", "protein_names_refseq": "LPD lipase; cancer/testis antigen 17; lipase member I isoform 1 precursor; lipase, member I; membrane-associated phosphatidic acid-selective phospholipase A1-beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:149998); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12161451;12359733;12522102;12719377;12963729;14573790;15367102;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17707131;18238778;18718904;19336658;19666841;20705608;21132378;21173190;22777291;22922100;23176821;23176823;23807634;24966474;26711011;2925608;29557506;3458202;35051231;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "Different LIPI transcript variants present in Ewing family tumors (EFT) might be involved in the pathogenesis of EFT by signaling via these LPA receptors., [RefSeq, PubMed]; Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a phospholipase that hydrolyzes phosphatidic acid to produce lysophosphatidic acid. Defects in this gene are a cause of susceptibility to familial hypertrigliceridemia. This gene is also expressed at high levels in Ewing family tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]., [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": 1, "reported_glycation": 0, "reported_snv": 18, "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": "G1JSG3;G1JSG4;G1JSG5;G1JSG6;G1JSG7;G1JSG8;G1JSG9", "ec_number_list": [ { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.118", "type": "external" } ], "go_molecular_function": "GO:0008201 heparin binding;GO:0052689 carboxylic ester hydrolase activity;GO:0004620 phospholipase activity;GO:0016298 lipase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0016042 lipid catabolic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q6XZB0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75678-1", "uniprot_id": [ { "id": "RFPL2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75678", "type": "external" } ], "mass": 42077.0, "length": 378, "protein_name": "Ret finger protein-like 2", "gene_name": "RFPL2", "organism": "Human", "refseq_name": "ret finger protein-like 2 isoform 2", "refseq_ac": [ { "id": "NP_001091997", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091997", "type": "external" } ], "gene_names_uniprotkb": "RFPL2; RNF79", "gene_names_refseq": "RFPL2; RNF79", "protein_names_uniprotkb": "Ret finger protein-like 2; RING finger protein 79", "protein_names_refseq": "RING finger protein 79; ret finger protein-like 2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10739)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10508838;11237011;18477386;18656177;27726376;30192525", "class_list": "", "function": "The human RFPL1,2,3 genes have a role in neocortex development, [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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "O75678-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBG7-1", "uniprot_id": [ { "id": "RBPJL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBG7", "type": "external" } ], "mass": 56751.0, "length": 517, "protein_name": "Recombining binding protein suppressor of hairless-like protein", "gene_name": "RBPJL", "organism": "Human", "refseq_name": "recombining binding protein suppressor of hairless-like protein isoform 2", "refseq_ac": [ { "id": "NP_001268377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268377", "type": "external" } ], "gene_names_uniprotkb": "RBPJL; RBPL; RBPSUHL", "gene_names_refseq": "RBPJL; RBPL; RBPSUHL; SUHL", "protein_names_uniprotkb": "Recombining binding protein suppressor of hairless-like protein; Transcription factor RBP-L", "protein_names_refseq": "recombining binding protein suppressor of hairless-like protein isoform 2; recombining binding protein suppressor of hairless-like protein; transcription factor RBP-L", "tax_id": 9606, "disease": "", "pathway": " (hsa:11317)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;16354684;29302047;29485866;33633747;35051231;35580925;9111338", "class_list": "", "function": "Amerindian-derived population-specific Thr280Met variant may modify risk of diabetes mellitus by regulating exocrine enzyme expression., [RefSeq, PubMed]; In mouse, there is cooperative transcriptional activity of RBP-L with EBNA-2., [RefSeq, PubMed]; P48 interacts with the RBP-L and RBP-J subunits primarily through two short conserved tryptophan-containing motifs, similar to the motif of the Notch intracellular domain (NotchIC) that interacts with RBP-J., [RefSeq, PubMed]; Putative transcription factor, which cooperates with EBNA2 to activate transcription., [UniProtKB]; This gene encodes a member of the suppressor of hairless protein family. A similar protein in mouse is a transcription factor that binds to DNA sequences almost identical to that bound by the Notch receptor signaling pathway transcription factor recombining binding protein J. The mouse protein has been shown to activate transcription in concert with Epstein-Barr virus nuclear antigen-2. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "O95723;Q5QPU9;Q5QPV0;Q9ULV9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005667 transcription regulator complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9UBG7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46776-1", "uniprot_id": [ { "id": "RL27A_HUMAN", "url": "https://www.uniprot.org/uniprot/P46776", "type": "external" } ], "mass": 16561.0, "length": 148, "protein_name": "Large ribosomal subunit protein uL15", "gene_name": "RPL27A", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL15", "refseq_ac": [ { "id": "NP_000981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000981", "type": "external" } ], "gene_names_uniprotkb": "RPL27A", "gene_names_refseq": "L27A; RPL27A; uL15", "protein_names_uniprotkb": "Large ribosomal subunit protein uL15; 60S ribosomal protein L27a", "protein_names_refseq": "60S ribosomal protein L27a; large ribosomal subunit protein uL15", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:6157); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9629569); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 18, "publication_count": 280, "publication_id_list": "10.1101/2023.09.13.557529;10358005;10449908;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1378441;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15676025;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;17947579;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856229;1856230;18566446;1861871;18657639;18691976;18974281;19060897;19106111;19150429;19332556;19359157;19369195;19417104;19478851;19503078;19556969;19564402;19574390;19608861;19608919;19706539;19801658;19819225;19859661;19909264;20023408;20038530;20056613;2006156;20305658;20361218;20444697;20479275;20531386;20684070;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21060799;21063389;21097556;21145460;21419344;21740066;22072790;22121020;22190735;22195017;22851697;22916032;23085078;23103944;23186163;23217742;23234702;23269699;23303181;23439679;23482395;23636399;23685075;23746841;2388630;24100311;24424021;24486019;24524803;24550447;24550462;24550463;24550520;24714562;24715725;25132172;25242263;25525153;25576301;25578875;25645385;25728928;25802875;25810538;25880248;25892735;25969445;26154972;26237581;26728094;26758079;26992070;27526673;27846572;27862975;27920218;28065601;28132843;28228285;28510447;28685749;28832583;28834231;29242379;29393594;29413899;29493099;29557506;29563586;29632312;29632711;29786170;29914368;29915238;30244831;30293783;30315122;30484775;30573663;30779550;30804176;31011209;31154438;31217245;31530632;31611695;31844290;31848261;32099016;32119511;32157095;32161166;32350084;32357974;32488085;32579943;32669547;32897882;32938616;32983136;33141586;33214551;33392160;33406423;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34078123;34171305;34725712;35030975;35051231;35083852;35138101;35251023;35561310;35580925;36284347;36302773;37217939;37474947;37676773;38665916;40930100;429297;592398;592399;641056;6568109;6688526;6901506;7772601;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9582194;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed]; High expression of RPL27A predicts poor prognosis in patients with hepatocellular carcinoma. Publication Status: Online-Only, [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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L15P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; TRF-19-W4PU732S promotes breast cancer cell malignant activity by targeting inhibition of RPL27A (ribosomal protein-L27A)., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R4B3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 28.7, "record_id": "P46776-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBD1-1", "uniprot_id": [ { "id": "RC3H2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBD1", "type": "external" } ], "mass": 131669.0, "length": 1191, "protein_name": "Roquin-2", "gene_name": "RC3H2", "organism": "Human", "refseq_name": "roquin-2 isoform 1", "refseq_ac": [ { "id": "NP_001094058", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094058", "type": "external" } ], "gene_names_uniprotkb": "RC3H2; MNAB; RNF164", "gene_names_refseq": "MNAB; RC3H2; RNF164", "protein_names_uniprotkb": "Roquin-2; 2.3.2.27; Membrane-associated nucleic acid-binding protein; RING finger and CCCH-type zinc finger domain-containing protein 2; RING finger protein 164; RING-type E3 ubiquitin transferase Roquin-2", "protein_names_refseq": "RING finger protein 164; RING-type E3 ubiquitin transferase Roquin-2; membrane associated DNA binding protein; membrane-associated nucleic acid-binding protein; ring finger and CCCH-type zinc finger domain-containing protein 2; ring finger and CCCH-type zinc finger domains 2; roquin-2 isoform 1; roquin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54542)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10938276;11237011;19690332;20068231;20412057;23186163;23481700;23550652;24448648;25576301;25697406;25880248;26249698;26489670;26992070;28514659;28657654;28832583;28834231;29186683;29237092;29242379;29393594;29493099;29557506;29695787;30059200;30429286;30620550;30779550;31154438;31492838;31637018;31844290;31848261;32157095;32387766;32488085;32574038;32938616;32938750;33214551;33298915;33592498;33968037;33981976;34019948;34171305;34345214;34561969;34846842;35051231;35132862;35138101;35254053;35289036;35513511;35580925;36010968;36284347;37340703;37541260;38665916;39302247;39531497;39534244;40136647;40307207;41350704", "class_list": "", "function": "Crystal structures, small-angle X-ray scattering, and E2 profiling revealed that while the two paralogs are highly homologous, RC3H2 and RC3H1 are different in their structures and functions. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of KLHL6 promotes diffuse large B-cell lymphoma growth and survival by stabilizing the mRNA decay factor roquin2., [RefSeq, PubMed]; Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF and in many more mRNAs. Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs. In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity. In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression. Also recognizes CDE in its own mRNA and in that of paralogous RC3H1, possibly leading to feedback loop regulation (By similarity). miRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2B, UBE2D2, UBE2E2, UBE2E3, UBE2G2, UBE2K and UBE2Q2 and produces polyubiquitin chains (PubMed:26489670). Shows the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670). Involved in the ubiquitination of MAP3K5 (PubMed:24448648, PubMed:26489670, PubMed:29186683). Able to interact with double-stranded RNA (dsRNA) (PubMed:26489670)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Roquin-1 and roquin-2 proteins function redundantly in mRNA degradation., [RefSeq, PubMed]; Roquin2 suppresses breast cancer progression by inhibiting tumor angiogenesis via selectively destabilizing proangiogenic factors mRNA. 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": 35, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 35, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 35, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 37, "binding_glycan_count": 0, "secondary_ac_list": "Q4VXB1;Q5JPD7;Q86ST6;Q8N3D6;Q96F27;Q9H5J2;Q9HBD2;Q9NWN9;Q9NXE1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane;GO:0000932 P-body;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:2000320 negative regulation of T-helper 17 cell differentiation;GO:0050852 T cell receptor signaling pathway;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:2000628 regulation of miRNA metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9HBD1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHY7-1", "uniprot_id": [ { "id": "ENOPH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHY7", "type": "external" } ], "mass": 28933.0, "length": 261, "protein_name": "Enolase-phosphatase E1", "gene_name": "ENOPH1", "organism": "Human", "refseq_name": "enolase-phosphatase E1 isoform 2", "refseq_ac": [ { "id": "NP_001278946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278946", "type": "external" } ], "gene_names_uniprotkb": "ENOPH1; MASA; MSTP145", "gene_names_refseq": "E1; ENOPH1; MASA; MST145; mtnC", "protein_names_uniprotkb": "Enolase-phosphatase E1; 2,3-diketo-5-methylthio-1-phosphopentane phosphatase; 3.1.3.77; MASA homolog", "protein_names_refseq": "2,3-diketo-5-methylthio-1-phosphopentane phosphatase; acireductone synthase; enolase-phosphatase E1 isoform 2; enolase-phosphatase E1", "tax_id": 9606, "disease": "", "pathway": " (hsa:58478); (R-HSA-1237112)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10931946;11237011;11443076;15843022;17786183;19620624;22464254;25576301;25880248;26375851;27846572;28218747;28228285;28510447;28904123;29242379;29437277;29557506;30066900;30315122;3091600;31154438;31281503;31530632;31844290;32157095;32161166;32350084;32357974;32654229;33141586;33298915;33912179;33968037;33981976;34171305;34357683;35051231;35580925;36284347;36378417;6785752", "class_list": "", "function": "Bifunctional enzyme that catalyzes the enolization of 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P) into the intermediate 2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate (HK-MTPenyl-1-P), which is then dephosphorylated to form the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene)., [UniProtKB, HAMAP, PubMed]; Enolase-phosphatase 1 acts as an oncogenic driver in glioma., [RefSeq, PubMed]; High ENOPH1 expression is associated with malignant glioma., [RefSeq, PubMed]; Taken together, these findings illustrate that ENOPH1 promotes hepatocellular carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; The crystal structure of MASA and its complex with a substrate analog, [RefSeq, PubMed]; Tumor-promoting properties of enolase-phosphatase 1 in breast cancer via activating the 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q7Z4C5;Q9BVC2", "ec_number_list": [ { "id": "3.1.3.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.77", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0043874 acireductone synthase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0019509 L-methionine salvage from methylthioadenosine", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9UHY7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKM9-1", "uniprot_id": [ { "id": "RALY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKM9", "type": "external" } ], "mass": 32463.0, "length": 306, "protein_name": "RNA-binding protein Raly", "gene_name": "RALY", "organism": "Human", "refseq_name": "RNA-binding protein Raly isoform 2", "refseq_ac": [ { "id": "NP_031393", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031393", "type": "external" } ], "gene_names_uniprotkb": "RALY; HNRPCL2; P542", "gene_names_refseq": "HNRPCL2; P542; RALY", "protein_names_uniprotkb": "RNA-binding protein Raly; Autoantigen p542; Heterogeneous nuclear ribonucleoprotein C-like 2; hnRNP associated with lethal yellow protein homolog; hnRNP core protein C-like 2", "protein_names_refseq": "RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog); RNA-binding protein (autoantigenic); RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow); RNA-binding protein Raly isoform 2; RNA-binding protein Raly; autoantigen p542; heterogeneous nuclear ribonucleoprotein C-like 2; hnRNP associated with lethal yellow protein homolog; hnRNP core protein C-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22913)", "pathway_count": 1, "publication_count": 114, "publication_id_list": "10500250;11237011;11991638;16807684;17081983;17322306;17487921;17525332;17924679;18077418;18212344;18452278;18491316;18669648;18691976;19007248;19413330;19415658;19608861;19651622;19664995;19690332;19691289;20058876;20068230;20068231;20166139;21406692;22424782;23186163;23481700;24275569;24366607;24714562;24715725;25218447;25418920;25645385;25755297;25880248;25892735;26154972;26375851;26811146;26992070;27600516;27846572;27869121;27920218;28063628;28218747;28228285;28832583;28834231;28871256;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29774024;29786170;29789417;30315122;30354839;30410026;30524438;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32522876;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33936100;33968037;34019948;34171305;34211107;34509645;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36284347;36581221;37906341;37938771;38665916;38880454;38993567;39894887;40914422;7533788;9376072", "class_list": "", "function": "RNA binding protein RALY facilitates colorectal cancer metastasis via enhancing exosome biogenesis in m6A dependent manner., [RefSeq, PubMed]; RNA-binding protein that acts as a transcriptional cofactor for cholesterol biosynthetic genes in the liver. Binds the lipid-responsive non-coding RNA LeXis and is required for LeXis-mediated effect on cholesterogenesis (By similarity). May be a heterogeneous nuclear ribonucleoprotein (hnRNP) (PubMed:9376072)., [UniProtKB, UniProtKB, PubMed]; SUMOylation of RALY promotes vasculogenic mimicry in glioma cells via the FOXD1/DKK1 pathway., [RefSeq, PubMed]; This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "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": 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": "Q14621;Q2M365;Q5QPL8;Q9BQX6;Q9UJE3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0042632 cholesterol homeostasis;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q9UKM9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5X9-1", "uniprot_id": [ { "id": "LIPG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5X9", "type": "external" } ], "mass": 56795.0, "length": 500, "protein_name": "Endothelial lipase", "gene_name": "LIPG", "organism": "Human", "refseq_name": "endothelial lipase isoform 2 precursor", "refseq_ac": [ { "id": "NP_001294935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294935", "type": "external" } ], "gene_names_uniprotkb": "LIPG; PRO719", "gene_names_refseq": "EDL; EL; LIPG; PRO719", "protein_names_uniprotkb": "Endothelial lipase; 3.1.1.32; 3.1.1.3; EDL; EL; Endothelial cell-derived lipase; Phospholipase A1", "protein_names_refseq": "endothelial cell-derived lipase; endothelial lipase isoform 2 precursor; endothelial lipase; lipase, endothelial; lipoprotein lipase H; phospholipase A1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); cardiovascular system disease (Disease Ontology:DOID:1287); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); myocardial infarction (Disease Ontology:DOID:5844); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9388); (R-HSA-8964058)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10192396;10318835;11237011;12032167;12164779;12569156;12966036;12975309;14559902;15994327;16326978;16335952;16968945;17237796;19567873;23584533;25576301;25813380;2833496;28467828;28832583;29242379;29331515;29557506;32350084;33968037;34001944;35051231;35251023;36606668;37074911;37417299;38379026;39069526;4335615;4340992;4360812;5865378;6619141;9829992", "class_list": "", "function": "EDL mediates both HDL binding and uptake, and the selective uptake of HDL-CE, independently of lipolysis and CLA-1., [RefSeq, PubMed]; Endothelial lipase has a role in HDL metabolism [review] Review article, [RefSeq, PubMed]; Endothelial lipase variant T111I does not alter inhibition by angiopoietin-like proteins. Publication Status: Online-Only, [RefSeq, PubMed]; Exerts both phospholipase and triglyceride lipase activities (PubMed:10192396, PubMed:10318835, PubMed:12032167). More active as a phospholipase than a triglyceride lipase (PubMed:12032167). Hydrolyzes triglycerides, both with short-chain fatty acyl groups (tributyrin) and long-chain fatty acyl groups (triolein) with similar levels of activity toward both types of substrates (PubMed:12032167). Hydrolyzes high density lipoproteins (HDL) more efficiently than other lipoproteins (PubMed:10192396, PubMed:12032167)., [UniProtKB, PubMed, PubMed, PubMed]; Integrated analysis of DNA methylome and transcriptome reveals SFRP1 and LIPG as potential drivers of ovarian cancer metastasis., [RefSeq, PubMed]; LIPG endothelial lipase and breast cancer risk by subtypes. Publication Status: Online-Only, [RefSeq, PubMed]; Mechanistic analysis of endothelial lipase G promotion of the occurrence and development of cervical carcinoma by activating the phosphatidylinositol-4,5-bisphosphate 3-kinase/protein kinase B/mechanistic target of rapamycin kinase signalling pathway., [RefSeq, PubMed]; The protein encoded by this gene has substantial phospholipase activity and may be involved in lipoprotein metabolism and vascular biology. This protein is designated a member of the TG lipase family by its sequence and characteristic lid region which provides substrate specificity for enzymes of the TG lipase family. [provided by RefSeq, Jul 2008]., [RefSeq]; ZDHHC1 downregulates LIPG and inhibits colorectal cancer growth via IGF2BP1 Palmitoylation., [RefSeq, PubMed]", "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": 1, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 6, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B0LPG6;Q6P9C8;Q6UW82", "ec_number_list": [ { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "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": "3.1.1.23", "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": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.26", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.26", "type": "external" }, { "id": "3.1.1.116", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.116", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.118", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0008201 heparin binding;GO:0004620 phospholipase activity;GO:0008970 phospholipase A1 activity;GO:0004806 triacylglycerol lipase activity;GO:0004465 lipoprotein lipase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0009986 cell surface", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0007584 response to nutrient;GO:0006633 fatty acid biosynthetic process;GO:0009395 phospholipid catabolic process;GO:0034375 high-density lipoprotein particle remodeling", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9Y5X9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XE24-1", "uniprot_id": [ { "id": "RBMS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XE24", "type": "external" } ], "mass": 47840.0, "length": 437, "protein_name": "RNA-binding motif, single-stranded-interacting protein 3", "gene_name": "RBMS3", "organism": "Human", "refseq_name": "RNA-binding motif, single-stranded-interacting protein 3 isoform 3", "refseq_ac": [ { "id": "NP_001003792", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003792", "type": "external" } ], "gene_names_uniprotkb": "RBMS3", "gene_names_refseq": "RBMS3", "protein_names_uniprotkb": "RNA-binding motif, single-stranded-interacting protein 3", "protein_names_refseq": "RNA binding motif, single stranded interacting protein; RNA-binding motif, single-stranded-interacting protein 3 isoform 3; RNA-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:27303)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10675610;11237011;17586524;19415658;25576301;25645385;28228285;28514659;28832583;29242379;29393594;30315122;30379171;30429286;31844290;32157095;32387766;32938616;33123756;33392160;33592498;33968037;34608266;35051231;35580925;36075788;36241641;36284347;36414028;36769184;38618967", "class_list": "", "function": "Binds poly(A) and poly(U) oligoribonucleotides., [UniProtKB, PubMed]; Comprehensive bioinformatics analysis confirms RBMS3 as the central candidate biological target for ovarian cancer., [RefSeq, PubMed]; Disruption of RBMS3 suppresses PD-L1 and enhances antitumor immune activities and therapeutic effects of auranofin against triple-negative breast cancer., [RefSeq, PubMed]; Expression of RBMS3 in Breast Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; RNA binding protein RBMS3 is a common EMT effector that modulates triple-negative breast cancer progression via stabilizing PRRX1 mRNA., [RefSeq, PubMed]; The RNA-binding protein RBMS3 inhibits the progression of colon cancer by regulating the stability of LIMS1 mRNA., [RefSeq, PubMed]; These results suggest that RBMS3, by binding Prx1 mRNA in a sequence-specific manner, controls Prx1 expression and indirectly collagen synthesis., [RefSeq, PubMed]; This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9S4;B7ZL17;G5E9J9;O75876;Q17RI0;Q6XE23", "ec_number_list": [], "go_molecular_function": "GO:0003730 mRNA 3'-UTR binding;GO:0008143 poly(A) binding;GO:0008266 poly(U) RNA binding;GO:0035925 mRNA 3'-UTR AU-rich region binding;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0002357 defense response to tumor cell", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q6XE24-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49756-1", "uniprot_id": [ { "id": "RBM25_HUMAN", "url": "https://www.uniprot.org/uniprot/P49756", "type": "external" } ], "mass": 100185.0, "length": 843, "protein_name": "RNA-binding protein 25", "gene_name": "RBM25", "organism": "Human", "refseq_name": "RNA-binding protein 25", "refseq_ac": [ { "id": "NP_067062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067062", "type": "external" } ], "gene_names_uniprotkb": "RBM25; RNPC7", "gene_names_refseq": "NET52; RBM25; RED120; RNPC7; S164; Snu71; fSAP94", "protein_names_uniprotkb": "RNA-binding protein 25; Arg/Glu/Asp-rich protein of 120 kDa; Protein S164; RED120; RNA-binding motif protein 25; RNA-binding region-containing protein 7", "protein_names_refseq": "Arg/Glu/Asp-rich protein, 120 kDa; RNA-binding protein 25; RNA-binding region (RNP1, RRM) containing 7; RNA-binding region-containing protein 7; U1 small nuclear ribonucleoprotein 1SNRP homolog; arg/Glu/Asp-rich protein of 120 kDa; functional spliceosome-associated protein 94", "tax_id": 9606, "disease": "", "pathway": " (hsa:58517); (R-HSA-72163); (R-HSA-9770562)", "pathway_count": 3, "publication_count": 215, "publication_id_list": "10.1101/2023.09.13.557529;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11991638;12176931;12411573;12414731;12477934;14625303;14713954;14749727;15037765;15561718;15565158;16314458;16809785;16964243;17081983;17095540;17128255;17287340;17322306;17332742;17560998;17606899;17924679;18212344;18288197;18322460;18452278;18593880;18663000;18669648;18767875;19007248;19103666;19165350;19217410;19367720;19413330;19415658;19536130;19651622;19664994;19664995;19690332;19691289;20058876;20068230;20068231;20166139;20423332;20695905;20980672;21295486;21406692;21536652;2176635;21859973;22110043;22365833;22544926;22813749;22959432;22961380;23186163;23190262;23222130;23236153;23301498;23345524;23481700;23874216;24076191;24149845;24196718;24275569;24304693;24366607;24448447;24714562;24715725;24737827;24914973;25218447;25301780;25301781;25555158;25576301;2558966;25645385;25755297;26154972;26385511;26420826;26728094;26969736;26992070;27377154;27459055;27683217;27862975;27920218;28062851;28076346;28096519;28228285;28502770;28510447;28781166;28832583;28904123;28911096;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29557506;29632046;2963332;29786170;30139799;30257008;30315122;30315277;30397120;30429286;30524438;30705154;30728453;30765414;30779550;30975767;31154438;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32329775;32357974;32387766;32488085;32494006;32502341;32522876;32816001;32897882;32938616;32983136;33214551;33243851;33298915;33392160;33446560;33537174;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34211107;34301950;34509645;34561969;34725712;34809444;34822310;35051231;35138101;35177536;35289036;35385551;35561310;35580925;35705054;36010968;36241641;36284347;37217939;3757028;37811881;38665916;39110401;39534244;40596516;40914422;7596406;8566756;8608946;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Alternative splicing of BCL-x is controlled by RBM25 binding to a G-quadruplex in BCL-x pre-mRNA., [RefSeq, PubMed]; Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome., [RefSeq, PubMed]; RBM25 depletion suppresses the growth of colon cancer cells through regulating alternative splicing of MNK2., [RefSeq, PubMed]; RNA-binding protein that acts as a regulator of alternative pre-mRNA splicing. Involved in apoptotic cell death through the regulation of the apoptotic factor BCL2L1 isoform expression. Modulates the ratio of proapoptotic BCL2L1 isoform S to antiapoptotic BCL2L1 isoform L mRNA expression. When overexpressed, stimulates proapoptotic BCL2L1 isoform S 5'-splice site (5'-ss) selection, whereas its depletion caused the accumulation of antiapoptotic BCL2L1 isoform L. Promotes BCL2L1 isoform S 5'-ss usage through the 5'-CGGGCA-3' RNA sequence. Its association with LUC7L3 promotes U1 snRNP binding to a weak 5' ss in a 5'-CGGGCA-3'-dependent manner. Binds to the exonic splicing enhancer 5'-CGGGCA-3' RNA sequence located within exon 2 of the BCL2L1 pre-mRNA. Also involved in the generation of an abnormal and truncated splice form of SCN5A in heart failure., [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": 1, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 12, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A0PJL9;B2RNA8;B3KT03;Q2TA72;Q5XJ17;Q6P665;Q9H6A1;Q9UEQ5;Q9UIE9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0042981 regulation of apoptotic process;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 22.4, "record_id": "P49756-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q643R3-1", "uniprot_id": [ { "id": "LPCT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q643R3", "type": "external" } ], "mass": 57219.0, "length": 524, "protein_name": "Lysophospholipid acyltransferase LPCAT4", "gene_name": "LPCAT4", "organism": "Human", "refseq_name": "lysophospholipid acyltransferase LPCAT4", "refseq_ac": [ { "id": "NP_705841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_705841", "type": "external" } ], "gene_names_uniprotkb": "LPCAT4; AGPAT7; AYTL3; LPEAT2", "gene_names_refseq": "AGPAT7; AYTL3; LPAAT-eta; LPCAT4; LPEAT2; LPLAT10", "protein_names_uniprotkb": "Lysophospholipid acyltransferase LPCAT4; 1-AGP acyltransferase 7; 1-AGPAT 7; 1-acylglycerol-3-phosphate O-acyltransferase 7; 1-acylglycerophosphocholine O-acyltransferase; 1-acylglycerophosphoserine O-acyltransferase; 1-alkenylglycerophosphoethanolamine O-acyltransferase; 1-alkylglycerophosphocholine O-acetyltransferase; 2.3.1.121; 2.3.1.23; 2.3.1.67; 2.3.1.n6; 2.3.1.n7; Acyltransferase-like 3; Lysophosphatidylcholine acyltransferase 4; Lysophosphatidylethanolamine acyltransferase 2; Plasmalogen synthase", "protein_names_refseq": "1-AGP acyltransferase 7; 1-AGPAT 7; 1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta); 1-acylglycerophosphocholine O-acyltransferase; 1-acylglycerophosphoserine O-acyltransferase; 1-alkenylglycerophosphoethanolamine O-acyltransferase; 1-alkylglycerophosphocholine O-acetyltransferase; PLSC domain containing protein; acyl-CoA:lysophosphatidylethanolamine acyltransferase 2; acyltransferase-like 3; lysophospholipid acyltransferase 10; lysophospholipid acyltransferase LPCAT4; plasmalogen synthase", "tax_id": 9606, "disease": "", "pathway": " (hsa:254531); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482925); (R-HSA-1483166)", "pathway_count": 6, "publication_count": 142, "publication_id_list": "10085124;10092647;10196188;10336645;10358058;10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12150957;12161451;12359733;12522102;12963729;14573790;14709560;15367102;15485873;15695510;15863501;15944408;1618844;16243729;16460752;16495223;16617059;16620771;16704971;16818490;16864775;17028579;17101204;17170135;17182612;17707131;18195019;18238778;18287005;18458083;18614531;18691976;18718904;18772128;18781350;19019078;1904318;19336658;19351971;19501189;19554302;19666841;20025994;20705608;21173190;21220512;21515882;22605381;22777291;22825852;22906437;22922100;23176821;23176823;23481700;23807634;23815430;23934110;24366607;24715725;24966474;25576301;25645385;25880248;26154972;26206935;26375851;26463208;26503625;26711011;26992070;27600516;28063628;28832583;28834231;28904123;29242379;2925608;2925633;29508533;29557506;29632711;29786170;29789417;30833945;31844290;31848261;31937595;32157095;32357974;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33936100;33968037;33981976;34171305;34211107;34357683;34561969;3458202;34932366;35051231;35494241;35580925;36233185;36284347;37074911;7060561;7821823;8083230;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9417066;9461603;9582313;9705332", "class_list": "", "function": "Displays acyl-CoA-dependent lysophospholipid acyltransferase activity with a subset of lysophospholipids as substrates; converts lysophosphatidylethanolamine to phosphatidylethanolamine, lysophosphatidylcholine to phosphatidycholine, 1-alkenyl-lysophatidylethanolamine to 1-alkenyl-phosphatidylethanolamine, lysophosphatidylglycerol and alkyl-lysophosphatidylcholine to phosphatidylglycerol and alkyl-phosphatidylcholine, respectively. In contrast, has no lysophosphatidylinositol, glycerol-3-phosphate, diacylglycerol or lysophosphatidic acid acyltransferase activity. Prefers long chain acyl-CoAs (C16, C18) as acyl donors., [UniProtKB, PubMed]; LPCAT4 Knockdown Alters Barrier Integrity and Cellular Bioenergetics in Human Urothelium. Publication Status: Online-Only, [RefSeq, PubMed]; LPCAT4 is overexpressed and involved in the deregulation of PC(16:0/16:1) in colorectal cancer., [RefSeq, PubMed]; LPEAT2 as an important enzyme in the biosynthesis of ethanolamine-containing phospholipids, especially in brain., [RefSeq, PubMed]; Members of the 1-acylglycerol-3-phosphate O-acyltransferase (EC 2.3.1.51) family, such as AGPAT7, catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA), a precursor in the biosynthesis of all glycerolipids. Both LPA and PA are involved in signal transduction (Ye et al., 2005 [PubMed 16243729]).[supplied by OMIM, May 2008]., [RefSeq]; Report the cloning and characterization of a novel human 1-acyl-sn-glycerol-3-phosphate acyltransferase member AGPAT7 (1-acyl-sn-glycerol-3-phosphate acyltransferase 7) gene, which was mapped to human chromosome 15q14, [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": 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": 12, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K2K8;O43412;Q7Z4P4;Q8IUL7;Q8TB38", "ec_number_list": [ { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "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": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "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.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "2.3.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.22", "type": "external" }, { "id": "2.3.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.62", "type": "external" } ], "go_molecular_function": "GO:0047144 2-acylglycerol-3-phosphate O-acyltransferase activity;GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0042171 lysophosphatidic acid acyltransferase activity;GO:0047166 1-alkenylglycerophosphoethanolamine O-acyltransferase activity;GO:0047184 1-acylglycerophosphocholine O-acyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0006654 phosphatidic acid biosynthetic process;GO:0036152 phosphatidylethanolamine acyl-chain remodeling;GO:0036151 phosphatidylcholine acyl-chain remodeling;GO:0006644 phospholipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "Q643R3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY85-1", "uniprot_id": [ { "id": "EFC13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY85", "type": "external" } ], "mass": 110129.0, "length": 973, "protein_name": "EF-hand calcium-binding domain-containing protein 13", "gene_name": "EFCAB13", "organism": "Human", "refseq_name": "EF-hand calcium-binding domain-containing protein 13 isoform B", "refseq_ac": [ { "id": "NP_001182121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182121", "type": "external" } ], "gene_names_uniprotkb": "EFCAB13; C17orf57", "gene_names_refseq": "C17orf57; EFCAB13", "protein_names_uniprotkb": "EF-hand calcium-binding domain-containing protein 13", "protein_names_refseq": "EF-hand calcium-binding domain-containing protein 13 isoform B; EF-hand calcium-binding domain-containing protein 13; EF-hand domain-containing protein C17orf57", "tax_id": 9606, "disease": "", "pathway": " (hsa:124989)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;16959974;25418920;25880248;27920218;28411811;28904123;30192525;31324691;31492838;31530632;32357974;33592498;33912179;33936100;35051231;35154160;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": 33, "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": "G3V128;Q49AG9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8IY85-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7P2-1", "uniprot_id": [ { "id": "RFL3S_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7P2", "type": "external" } ], "mass": 11739.0, "length": 107, "protein_name": "Putative protein RFPL3S", "gene_name": "RFPL3S", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RFPL3S; RFPL3-AS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein RFPL3S; RFPL3 antisense RNA 1; RFPL3 antisense gene protein 1; Ret finger protein-like 3 antisense gene protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "10508838;29557506;29789417;30779550;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": "Q5TI83;Q5TI84", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0C7P2-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17081-1", "uniprot_id": [ { "id": "RHOQ_HUMAN", "url": "https://www.uniprot.org/uniprot/P17081", "type": "external" } ], "mass": 22659.0, "length": 205, "protein_name": "Rho-related GTP-binding protein RhoQ", "gene_name": "RHOQ", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoQ", "refseq_ac": [ { "id": "NP_036381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036381", "type": "external" } ], "gene_names_uniprotkb": "RHOQ; ARHQ; RASL7A; TC10", "gene_names_refseq": "ARHQ; HEL-S-42; RASL7A; RHOQ; TC10A; TC10", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoQ; 3.6.5.2; Ras-like protein TC10; Ras-like protein family member 7A", "protein_names_refseq": "RAS-like, family 7, member A; epididymis secretory protein Li 42; ras homolog gene family, member Q; ras-like protein TC10; ras-like protein family member 7A; rho-related GTP-binding protein RhoQ", "tax_id": 9606, "disease": "", "pathway": " (hsa:23433); (R-HSA-1445148); (R-HSA-5627083); (R-HSA-9013406)", "pathway_count": 4, "publication_count": 57, "publication_id_list": "10490598;10934474;10967094;11162552;11185749;11237011;12242347;12456725;12773384;15546864;15919790;15971998;16246732;16880201;17214551;17369524;17995453;18948252;19013499;19252894;19258391;19713215;20631154;20701589;20837646;20937701;2108320;21454492;21454505;21454690;21907143;23255595;24223996;24297911;24355937;24663214;2550440;25678704;27481945;27600516;28218747;28904123;29437277;30429286;31844290;31871319;32157095;32350084;32506201;32983136;33298915;33968037;36215666;7721814;8094051;8664345;9857026", "class_list": "", "function": "Exocytosis of Rab11- and L1-positive vesicles may play a central role in TC10-mediated neurite outgrowth Publication Status: Online-Only, [RefSeq, PubMed]; Novel tumor-associated increase of RNA editing in ras homologue family member Q (RHOQ) transcripts, is reported., [RefSeq, PubMed]; Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia., [UniProtKB, PubMed]; RHOQ is induced by DLL4 and regulates angiogenesis by determining the intracellular route of the Notch intracellular domain., [RefSeq, PubMed]; The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors, [RefSeq, PubMed]; This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D6W5A6;Q0VGN1;Q52LS8;Q53SJ1;Q6NS39;Q6P146;Q7Z480", "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": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.6.1.-", "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": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "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:0019901 protein kinase binding;GO:0005522 profilin binding;GO:0032427 GBD domain binding", "go_cellular_component": "GO:0005884 actin filament;GO:0005886 plasma membrane;GO:0045121 membrane raft;GO:0070062 extracellular exosome;GO:0030660 Golgi-associated vesicle membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0032869 cellular response to insulin stimulus;GO:0032956 regulation of actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P17081-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I51-1", "uniprot_id": [ { "id": "RCC1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I51", "type": "external" } ], "mass": 49898.0, "length": 464, "protein_name": "RCC1-like G exchanging factor-like protein", "gene_name": "RCC1L", "organism": "Human", "refseq_name": "RCC1-like G exchanging factor-like protein isoform 3", "refseq_ac": [ { "id": "NP_001268370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268370", "type": "external" } ], "gene_names_uniprotkb": "RCC1L; WBSCR16", "gene_names_refseq": "RCC1L; WBSCR16", "protein_names_uniprotkb": "RCC1-like G exchanging factor-like protein; RCC1-like protein; Williams-Beuren syndrome chromosomal region 16 protein", "protein_names_refseq": "RCC1-like G exchanging factor-like protein isoform 3; RCC1-like G exchanging factor-like protein; RCC1-like protein; Williams-Beuren syndrome chromosomal region 16 protein; Williams-Beuren syndrome chromosome region 16", "tax_id": 9606, "disease": "Williams-Beuren syndrome (Disease Ontology:DOID:1928)", "pathway": " (hsa:81554); (R-HSA-6793080); (R-HSA-9937008)", "pathway_count": 3, "publication_count": 41, "publication_id_list": "11230166;11237011;11809803;12073013;12496758;15110318;15769737;18083837;19356719;19417006;21292163;21531335;22341444;22949673;23022348;23303773;23804760;24036117;25008111;25009282;25074936;25645385;26464487;27667664;27974379;28082677;28218747;28608466;28746876;28832583;29107537;29242379;29393594;30315122;30524438;31477916;32161166;32735630;35494241;36215666;37770567", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion (PubMed:28746876). Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system (PubMed:27667664)., [UniProtKB, PubMed, PubMed]; Plays an essential role in mitochondrial ribosome biogenesis via its association with GTPases that play a role in the assembly of the large ribosome subunit., [UniProtKB, PubMed]; This gene encodes a protein containing regulator of chromosome condensation 1-like repeats. The encoded protein may function as a guanine nucleotide exchange factor. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, a multisystem developmental disorder. 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": 1, "reported_mutagensis": 1, "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": "D3DXK0;F5GX55;F5H6C7;Q548B1;Q8IW88;Q8N572;Q9H0G7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005525 GTP binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0019843 rRNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0008053 mitochondrial fusion;GO:1902775 mitochondrial large ribosomal subunit assembly;GO:0061668 mitochondrial ribosome assembly;GO:0180026 mitochondrial small ribosomal subunit assembly", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q96I51-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AH8-1", "uniprot_id": [ { "id": "RAB7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AH8", "type": "external" } ], "mass": 22511.0, "length": 199, "protein_name": "Ras-related protein Rab-7b", "gene_name": "RAB7B", "organism": "Human", "refseq_name": "ras-related protein Rab-7b isoform a", "refseq_ac": [ { "id": "NP_001157994", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157994", "type": "external" } ], "gene_names_uniprotkb": "RAB7B", "gene_names_refseq": "RAB7B; RAB7", "protein_names_uniprotkb": "Ras-related protein Rab-7b", "protein_names_refseq": "Ras-related protein Rab-7; ras-related protein Rab-7b isoform a; ras-related protein Rab-7b", "tax_id": 9606, "disease": "", "pathway": " (hsa:338382); (R-HSA-8854214); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 234, "publication_id_list": "10202141;10818110;10990452;11038176;11141079;11179213;11237011;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;15144907;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16055087;16207721;16373702;16395330;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17658474;17671165;17678623;17901050;18076383;18094055;18199687;18319245;18354496;18367545;1845915;18466115;18477474;18532927;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20095038;20116244;20154091;20159109;20159556;20305638;20308558;20363736;20375062;20404108;20434987;20592283;20797862;20851765;20937701;20953574;21041651;21057625;2115402;21183348;21187289;21216617;21255211;21273506;21330364;21383079;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22219378;22365832;22433857;22511774;22581368;22595670;22613832;22622570;22648168;22653444;22694141;22705394;22708738;22762500;22795129;22854040;22908308;22983554;23019362;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23562278;23645161;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;30111580;31153054;31636202;34494097;36408770;36656016;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Controls vesicular trafficking from endosomes to the trans-Golgi network (TGN). Acts as a negative regulator of TLR9 signaling and can suppress TLR9-triggered TNFA, IL6, and IFNB production in macrophages by promoting TLR9 lysosomal degradation. Also negatively regulates TLR4 signaling in macrophages by promoting lysosomal degradation of TLR4. Promotes megakaryocytic differentiation by increasing NF-kappa-B-dependent IL6 production and subsequently enhancing the association of STAT3 with GATA1. Not involved in the regulation of the EGF- and EGFR degradation pathway., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Listeria InlB Expedites Vacuole Escape and Intracellular Proliferation by Promoting Rab7 Recruitment via Vps34., [RefSeq, PubMed]; Rab7b is required for normal lysosome function, and, in particular, it is an essential factor for retrograde transport from endosomes to the trans-Golgi network., [RefSeq, PubMed]; Rab7b is required for sortilin transport from endosomes to the TGN., [RefSeq, PubMed]; Rab7b may play important roles in megakaryopoiesis by activating NF-kappaB and promoting IL-6 production., [RefSeq, PubMed]; Rab7b participation on the TLR4 (Toll-like receptor) endocytic pathway in Shiga toxin-associated Hemolytic Uremic Syndrome (HUS)., [RefSeq, PubMed]; Rab7b regulates dendritic cell migration by linking lysosomes to the actomyosin cytoskeleton., [RefSeq, PubMed]; TBC1D5 is a GAP for Rab7b in the control of endosomal transport to the trans-Golgi. 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding;GO:0003925 G protein activity;GO:0003924 GTPase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005764 lysosome;GO:0031902 late endosome membrane;GO:0030670 phagocytic vesicle membrane;GO:0005770 late endosome", "go_biological_process": "GO:0015031 protein transport;GO:0032755 positive regulation of interleukin-6 production;GO:0008333 endosome to lysosome transport;GO:0045654 positive regulation of megakaryocyte differentiation;GO:0090385 phagosome-lysosome fusion", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "Q96AH8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYP5-1", "uniprot_id": [ { "id": "ELYS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYP5", "type": "external" } ], "mass": 252498.0, "length": 2266, "protein_name": "Protein ELYS", "gene_name": "AHCTF1", "organism": "Human", "refseq_name": "protein ELYS isoform 2", "refseq_ac": [ { "id": "NP_001310271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310271", "type": "external" } ], "gene_names_uniprotkb": "AHCTF1; ELYS; MSTP108; TMBS62", "gene_names_refseq": "AHCTF1; ELYS; MST108; MSTP108; TMBS62", "protein_names_uniprotkb": "Protein ELYS; Embryonic large molecule derived from yolk sac; Protein MEL-28; Putative AT-hook-containing transcription factor 1", "protein_names_refseq": "ELYS transcription factor-like protein TMBS62; embryonic large molecule derived from yolk sac; protein ELYS isoform 2; protein ELYS; putative AT-hook-containing transcription factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25909); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9615933); (R-HSA-9648025)", "pathway_count": 9, "publication_count": 195, "publication_id_list": "10.1101/2023.09.13.557529;10411507;10600384;10678165;10911995;10958683;11081627;11181178;11231159;11237011;11371342;11509732;11535616;11804586;11952839;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14730319;15006353;15085137;15339662;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;16964243;17030981;17081983;17098863;17112726;17113138;17129783;17196341;17198702;17235358;1737036;18001770;18097444;18220336;18316408;18669648;18691969;18691976;18716626;18923426;19350017;19690332;19696148;19815554;19965387;20030946;20068231;20101212;20112406;20591975;20974814;21111234;21148482;21397845;21406692;21576392;21868368;21878504;21987589;22094460;22275430;22608513;22645359;22790947;22869377;22885700;23186163;23222643;23481700;23801653;24366607;24397554;24714562;24715725;24914801;25418920;25505266;25576301;25602437;25645385;25740311;25789526;25892735;26154972;26375851;26728094;26811146;26992070;27341616;27397612;27802161;27846572;27862975;28411811;28904123;29242379;29371260;29437277;29493099;29557506;30315122;30379171;30410026;30429286;30484775;30779550;30833945;31085625;31154438;31217245;31222486;31409757;31530632;31784729;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34260926;34357683;34509645;34561969;34932366;35017527;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38605278;39531497;39534244;40596516;9019411;9497385;9649308;9649503;9892021", "class_list": "", "function": "AHCTF1 regulates the super-enhancer-mediated gene gating process.The cancer-cell-specific gating of MYC is regulated by AHCTF1, which connects nucleoporins to the oncogenic super-enhancer via beta-catenin. Erratum:[Nat Genet. 2020 Nov;52(11):1265. doi: 10.1038/s41588-020-00715-9. PMID: 32948851], [RefSeq, PubMed]; Canonical WNT signaling-dependent gating of MYC requires a noncanonical CTCF function at a distal binding site. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphorylation of ELYS promotes its interaction with VAPB at decondensing chromosomes during mitosis., [RefSeq, PubMed]; Required for the assembly of a functional nuclear pore complex (NPC) on the surface of chromosomes as nuclei form at the end of mitosis. May initiate NPC assembly by binding to chromatin and recruiting the Nup107-160 subcomplex of the NPC. Also required for the localization of the Nup107-160 subcomplex of the NPC to the kinetochore during mitosis and for the completion of cytokinesis., [UniProtKB, PubMed, PubMed]; Results suggets that ELYS is an unexpected member of the nuclear pore and kinetochore that functions in both pore assembly at the nucleus and faithful cell division., [RefSeq, PubMed]; These observations point to a new mechanism regulating the localization of LBR, which is governed by an ELYS-mediated phosphorylation network., [RefSeq, PubMed]; We identify ELYS as a novel positive effector of mammalian nuclear size and propose that nuclear size is sensitive to NPC density and nuclear import capacity., [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": 22, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 22, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 22, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 44, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "A6NGM0;A8MSG9;A8MZ86;Q7Z4E3;Q8IZA4;Q96EH9;Q9Y4Q6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport;GO:0051301 cell division;GO:0032465 regulation of cytokinesis;GO:0051292 nuclear pore complex assembly", "synthesized_glycan_count": 0, "hit_score": 22.1, "record_id": "Q8WYP5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86Y78-1", "uniprot_id": [ { "id": "LYPD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86Y78", "type": "external" } ], "mass": 19118.0, "length": 171, "protein_name": "Ly6/PLAUR domain-containing protein 6", "gene_name": "LYPD6", "organism": "Human", "refseq_name": "ly6/PLAUR domain-containing protein 6 precursor", "refseq_ac": [ { "id": "NP_001182614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182614", "type": "external" } ], "gene_names_uniprotkb": "LYPD6; PRO9821", "gene_names_refseq": "LYPD6", "protein_names_uniprotkb": "Ly6/PLAUR domain-containing protein 6", "protein_names_refseq": "ly6/PLAUR domain-containing protein 6 precursor; ly6/PLAUR domain-containing protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:130574)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;11237011;12975309;15340161;19653121;23584533;23987510;25680266;25813380;27344019;30069874;33019770;34631692;37217939", "class_list": "", "function": "Acts as a modulator of nicotinic acetylcholine receptors (nAChRs) function in the brain (PubMed:27344019, PubMed:34631692). Inhibits nicotine-induced Ca(2+) influx through nAChRs (PubMed:27344019). In vitro, specifically inhibits alpha-3:beta-4 and alpha-7 nAChR currents in an allosteric manner (PubMed:34631692). Acts as a positive regulator of Wnt/beta-catenin signaling (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Lypd6 appears to control Lrp6 activation specifically in membrane rafts, which is essential for downstream signaling., [RefSeq, PubMed]; Members of the LY6 protein family (see SLURP1; MIM 606119), such as LYPD6, have at least one 80-amino acid LU domain that contains 10 conserved cysteines with a defined disulfide-bonding pattern (Zhang et al., 2010 [PubMed 19653121]).[supplied by OMIM, Apr 2010]., [RefSeq]; Results indicate the key role in the interaction of LY6/PLAUR domain containing 6 (LYPD6) with LDL receptor related protein 6 (LRP6)., [RefSeq, PubMed]; Structural Diversity and Dynamics of Human Three-Finger Proteins Acting on Nicotinic Acetylcholine Receptors. Publication Status: Online-Only, [RefSeq, PubMed]; The Lynx protein Lypd6 binds to nAChRs in human brain extracts, and that recombinant Lypd6 decreases nicotine-induced ERK phosphorylation, [RefSeq, PubMed]; The cloning and characterization of a novel human LU domain containing gene, LYPD6, isolated from human testis cDNA library, is reported., [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": 0, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B3KWC0;Q4G121;Q53TR3;Q659B1", "ec_number_list": [], "go_molecular_function": "GO:0030550 acetylcholine receptor inhibitor activity;GO:0030548 acetylcholine receptor regulator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043204 perikaryon", "go_biological_process": "GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q86Y78-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWY8-1", "uniprot_id": [ { "id": "LIPH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWY8", "type": "external" } ], "mass": 50859.0, "length": 451, "protein_name": "Lipase member H", "gene_name": "LIPH", "organism": "Human", "refseq_name": "lipase member H isoform 1 precursor", "refseq_ac": [ { "id": "NP_640341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_640341", "type": "external" } ], "gene_names_uniprotkb": "LIPH; LPDLR; MPAPLA1; PLA1B", "gene_names_refseq": "AH; ARWH2; HYPT7; LAH2; LIPH; LPDLR; PLA1B; mPA-PLA1 alpha; mPA-PLA1", "protein_names_uniprotkb": "Lipase member H; 3.1.1.-; LIPH; LPD lipase-related protein; Membrane-associated phosphatidic acid-selective phospholipase A1-alpha; Phospholipase A1 member B; mPA-PLA1 alpha", "protein_names_refseq": "LPD lipase-related protein; lipase member H isoform 1 precursor; lipase, member H; mPA-PLA1alpha; membrane-associated phosphatidic acid-selective phospholipase A1-alpha; membrane-bound phosphatidic acid-selective phospholipase A1; phospholipase A(1); phospholipase A1 member B", "tax_id": 9606, "disease": "hypotrichosis 7 (Disease Ontology:DOID:0110704)", "pathway": " (hsa:200879); (R-HSA-1483166)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11237011;11788596;11830583;12063250;12161451;12213196;12359733;12522102;12719377;12963729;14573790;15367102;16460752;16495223;16620771;16704971;16864775;17028579;17095700;17170135;17707131;18238778;18718904;18830268;19167195;19336658;19666841;20705608;21173190;21426374;21654843;22777291;22922100;23176821;23176823;23807634;24966474;25502872;26711011;27846572;27920218;28063628;28228285;28425126;28832583;29242379;2925608;29393594;29508533;29557506;29632046;30651409;31844290;32336749;32350084;32502341;32618099;33633747;33981976;34185709;34279685;3458202;34932366;35051231;35154160;35580925;36284347;37776372;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9461603;9582313", "class_list": "", "function": "Circular RNA eukaryotic translation initiation factor 6 facilitates TPC-1 cell proliferation and invasion through the microRNA-138-5p/lipase H axis. Publication Status: Online-Only, [RefSeq, PubMed]; High LIPH expression is associated with Coronary Artery Disease., [RefSeq, PubMed]; Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Identification of LIPH as an unfavorable biomarkers correlated with immune suppression or evasion in pancreatic cancer based on RNA-seq., [RefSeq, PubMed]; LIPH promotes metastasis by enriching stem-like cells in triple-negative breast cancer. Erratum:[J Cell Mol Med. 2025 May;29(10):e70587. doi: 10.1111/jcmm.70587. PMID: 40390213], [RefSeq, PubMed]; MRNA expressed in intestine, lung, and pancreas. Lipase H protein was also detected in human intestine., [RefSeq, PubMed]; PA-selective PLA(1) has a role in LPA production., [RefSeq, PubMed]; This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 11, "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": "A2IBA7;Q8TEC7", "ec_number_list": [ { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.118", "type": "external" } ], "go_molecular_function": "GO:0008201 heparin binding;GO:0052689 carboxylic ester hydrolase activity;GO:0004620 phospholipase activity;GO:0016298 lipase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q8WWY8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBK7-1", "uniprot_id": [ { "id": "RBL2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBK7", "type": "external" } ], "mass": 26115.0, "length": 228, "protein_name": "Rab-like protein 2A", "gene_name": "RABL2A", "organism": "Human", "refseq_name": "rab-like protein 2A isoform 3", "refseq_ac": [ { "id": "NP_001293089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293089", "type": "external" } ], "gene_names_uniprotkb": "RABL2A", "gene_names_refseq": "RABL2A", "protein_names_uniprotkb": "Rab-like protein 2A; 3.6.5.2", "protein_names_refseq": "RAB-like protein 2A; rab-like protein 2A isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:11159)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10444334;11237011;20058876;20138207;23055941;24825419;26154972;27397612;28218747;28904123;29437277;29493099;29557506;30410026;30578315;31844290;32357974;32387766;33075816;33298915;33912179;33981976;34087483;34171305;34405274;34767735;35051231;38991980", "class_list": "", "function": "Architecture of RabL2-associated complexes at the ciliary base: A structural modeling perspective: Deciphering the structural organization of ciliary RabL2 complexes., [RefSeq, PubMed]; In human samples no deviations of the euploid genomic state could be detected indicating that 22q13 microdeletions involving RABL2B are rare., [RefSeq, PubMed]; RABL2 controls localization of GPR161 independently of TULP3, which promotes entry of ciliary GPCRs. Publication Status: Online-Only, [RefSeq, PubMed]; RABL2A-CCDC34 Axis Promotes Sorafenib Resistance in Hepatocellular Carcinoma., [RefSeq, PubMed]; Small GTPase that plays an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. Binds, in a GTP-regulated manner, to a specific set of effector proteins including key proteins involved in cilia development and function and delivers them into the growing sperm tail., [UniProtKB, UniProtKB]; Suggest the 114391996 delC allele in the RABL2A gene may act as a risk factor for oligoasthenospermic infertility in Australian men., [RefSeq, PubMed]; This gene is a member of the RAB gene family which belongs to the RAS GTPase superfamily. The proteins in the family of RAS-related signaling molecules are small GTP-binding proteins that play important roles in the regulation of exocytotic and endocytotic pathways. This gene maps to the site of an ancestral telomere fusion event and may be a subtelomeric gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]., [RefSeq]; Variants in RABL2A causing male infertility and ciliopathy., [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": "B7ZBD6;Q9NU37", "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:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005929 cilium;GO:0012505 endomembrane system", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0060271 cilium assembly;GO:0007018 microtubule-based movement", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9UBK7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY67-1", "uniprot_id": [ { "id": "RAVR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY67", "type": "external" } ], "mass": 63877.0, "length": 606, "protein_name": "Ribonucleoprotein PTB-binding 1", "gene_name": "RAVER1", "organism": "Human", "refseq_name": "ribonucleoprotein PTB-binding 1 isoform 1", "refseq_ac": [ { "id": "NP_597709", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_597709", "type": "external" } ], "gene_names_uniprotkb": "RAVER1; KIAA1978", "gene_names_refseq": "RAVER1", "protein_names_uniprotkb": "Ribonucleoprotein PTB-binding 1; Protein raver-1", "protein_names_refseq": "protein raver-1; ribonucleoprotein PTB-binding 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:125950)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "11237011;14654843;16964243;17081983;17931803;18691976;19369195;19690332;20068231;21406692;23186163;23481700;24275569;24715725;25576301;25645385;25892735;26154972;26375851;26992070;27846572;27920218;28063628;28228285;28446606;28510447;28649982;28832583;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30779550;30833945;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34509645;34561969;34998241;35051231;35154160;35251023;35580925;36010968;36241641;37217939;38300787;40914422", "class_list": "", "function": "CRISPRi links COVID-19 GWAS loci to LZTFL1 and RAVER1., [RefSeq, PubMed]; Cooperates with PTBP1 to modulate regulated alternative splicing events. Promotes exon skipping. Cooperates with PTBP1 to modulate switching between mutually exclusive exons during maturation of the TPM1 pre-mRNA (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; RAVER1 hinders lethal EMT and modulates miR/RISC activity by the control of alternative splicing., [RefSeq, PubMed]; Raver1 gene promoter region shares common features of ubiquitously expressed gene with the interacting splicing regulator PTB, [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": 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": "A6NMU4;Q8IY60;Q8TF24", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q8IY67-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H902-1", "uniprot_id": [ { "id": "REEP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H902", "type": "external" } ], "mass": 22255.0, "length": 201, "protein_name": "Receptor expression-enhancing protein 1", "gene_name": "REEP1", "organism": "Human", "refseq_name": "receptor expression-enhancing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001158202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158202", "type": "external" } ], "gene_names_uniprotkb": "REEP1; C2orf23; SPG31", "gene_names_refseq": "C2orf23; DSMA6; HMN5B; HMND12; HMNR6; REEP1; SPG31; Yip2a", "protein_names_uniprotkb": "Receptor expression-enhancing protein 1; Spastic paraplegia 31 protein", "protein_names_refseq": "receptor expression-enhancing protein 1 isoform 1; receptor expression-enhancing protein 1; spastic paraplegia 31 protein", "tax_id": 9606, "disease": "autosomal recessive distal hereditary motor neuronopathy 6 (Disease Ontology:DOID:0081425); hereditary spastic paraplegia 31 (Disease Ontology:DOID:0110782); autosomal dominant distal hereditary motor neuronopathy 12 (Disease Ontology:DOID:0111205)", "pathway": " (hsa:65055); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11237011;15345747;15550249;16720576;16826527;18644145;19690332;20200447;20718791;21618648;22703882;23186163;23969831;24478229;24800820;27066569;27515280;27862975;29124833;29769354;29908077;30429286;30637453;31055810;31872057;31974307;32066986;34171305;34193129;35051231", "class_list": "", "function": "Deletional variation of the REEP1 gene probably underlies the disease in this pedigree, [RefSeq, PubMed]; REEP1 variants cause polyneuropathy in SPG31., [RefSeq, PubMed]; RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression., [RefSeq, PubMed]; Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors (PubMed:20200447). May play a role in long-term axonal maintenance (PubMed:24478229)., [UniProtKB, PubMed, PubMed]; Study identified a heterozygous nonstop variant in REEP1. Mutations in this gene have classically been associated with the upper motor neuron disorder hereditary spastic paraplegia (HSP)., [RefSeq, PubMed]; The REEP1 c.606 + 43G>T caused Spastic Paraplegia and primary progressive multiple sclerosis., [RefSeq, PubMed]; This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [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": 1, "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": "B7Z4D7;B7Z4F2;B7Z5R9;D6W5M2;Q53TI0", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0031849 olfactory receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0051205 protein insertion into membrane", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9H902-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13631-1", "uniprot_id": [ { "id": "RARG_HUMAN", "url": "https://www.uniprot.org/uniprot/P13631", "type": "external" } ], "mass": 50342.0, "length": 454, "protein_name": "Retinoic acid receptor gamma", "gene_name": "RARG", "organism": "Human", "refseq_name": "retinoic acid receptor gamma isoform 1", "refseq_ac": [ { "id": "NP_000957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000957", "type": "external" } ], "gene_names_uniprotkb": "RARG; NR1B3", "gene_names_refseq": "NR1B3; RARC; RARG; RARgamma", "protein_names_uniprotkb": "Retinoic acid receptor gamma; Nuclear receptor subfamily 1 group B member 3; RAR-gamma", "protein_names_refseq": "RAR-gamma; nuclear receptor subfamily 1 group B member 3; retinoic acid receptor gamma isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5916); (R-HSA-383280); (R-HSA-5362517); (R-HSA-5617472)", "pathway_count": 4, "publication_count": 88, "publication_id_list": "10235266;10493790;10542397;10748061;10777502;11237011;11865025;11909957;1320193;15175151;15866176;15867264;15896744;16079151;16549775;16751179;16959974;17185360;17428788;1756725;17660710;17713478;17761849;17851529;1849262;18542081;18781158;19115252;19144697;19232136;19747919;1975088;19782034;19850744;19854132;20042001;20085832;20215566;21504868;2157210;2172793;21998312;22569366;22705304;22871568;22879880;23219899;23534758;23630040;23991366;24174538;24312487;24586203;25101834;25135475;2546152;25645385;2570724;25913784;26768311;28167758;31844290;32938616;33968037;34087483;34171305;34470463;35580925;36010968;36183362;36241641;37828659;37897947;38245869;7488013;7501014;7501971;7704533;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740;9501913;9653119", "class_list": "", "function": "Histone lactylation inhibits RARgamma expression in macrophages to promote colorectal tumorigenesis through activation of TRAF6-IL-6-STAT3 signaling., [RefSeq, PubMed]; Polymorphisms in Vitamin A-Related Genes and Their Functions in Autoimmune Thyroid Disease., [RefSeq, PubMed]; RARgamma promotes the invasion and metastasis of thyroid carcinoma by activating the JAK1-STAT3-CD24/MMPs axis., [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) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence of ligand, acts mainly as an activator of gene expression due to weak binding to corepressors. Required for limb bud development. In concert with RARA or RARB, required for skeletal growth, matrix homeostasis and growth plate function (By similarity)., [UniProtKB]; Retinoic acid receptor gamma is required for proliferation of pancreatic cancer cells., [RefSeq, PubMed]; The Role of RARG rs2229774, SLC28A3 rs7853758, and UGT1A6*4 rs17863783 Single-nucleotide Polymorphisms in the Doxorubicin-induced Cardiotoxicity in Solid Childhood Tumors., [RefSeq, PubMed]; This gene encodes a retinoic acid receptor that belongs to the nuclear hormone receptor family. Retinoic acid receptors (RARs) act as ligand-dependent transcriptional regulators. When bound to ligands, RARs activate transcription by binding as heterodimers to the retinoic acid response elements (RARE) found in the promoter regions of the target genes. In their unbound form, RARs repress transcription of their target genes. RARs are involved in various biological processes, including limb bud development, skeletal growth, and matrix homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 4, "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": "B7Z492;B7Z4F1;B7ZAE4;J3KNP6;P22932;Q15281;Q52LZ8;Q9BYX8;Q9H1I3;Q9UJ38", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0005667 transcription regulator complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P13631-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBL7-1", "uniprot_id": [ { "id": "PLRKT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBL7", "type": "external" } ], "mass": 17201.0, "length": 147, "protein_name": "Plasminogen receptor (KT)", "gene_name": "PLGRKT", "organism": "Human", "refseq_name": "plasminogen receptor (KT)", "refseq_ac": [ { "id": "NP_060935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060935", "type": "external" } ], "gene_names_uniprotkb": "PLGRKT; AD025; C9orf46; MDS030", "gene_names_refseq": "AD025; C9orf46; MDS030; PLG-RKT; PLGRKT; Plg-R(KT)", "protein_names_uniprotkb": "Plasminogen receptor (KT); Plg-R(KT)", "protein_names_refseq": "5033414D02Rik; plasminogen receptor (KT); plasminogen receptor, C-terminal lysine transmembrane protein; transmembrane protein C9orf46", "tax_id": 9606, "disease": "", "pathway": " (hsa:55848)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10931946;20877624;21795689;21940822;23481700;24715725;25892735;27452731;27920218;28218747;28228285;28832583;29242379;29393594;29632046;29769354;30779550;31316511;31844290;32265295;32357974;32387766;32842150;33141586;33592498;33936100;34897983;35454092;35580925;37217939", "class_list": "", "function": "Exposure of plasminogen and a novel plasminogen receptor, Plg-RKT, on activated human and murine platelets., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plasminogen and the Plasminogen Receptor, Plg-RKT, Regulate Macrophage Phenotypic, and Functional Changes. Publication Status: Online-Only, [RefSeq, PubMed]; Plg-R(KT) plays a key role in the plasminogen-dependent regulation of macrophage invasion, chemotactic migration, and recruitment in the inflammatory response., [RefSeq, PubMed]; Plg-R(KT) was highly expressed in bovine adrenomedullary chromaffin cells, human pheochromocytoma tissue, PC12 pheochromocytoma cells, and murine hippocampus., [RefSeq, PubMed]; Plg-RKT Expression in Human Breast Cancer Tissues. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for plasminogen. Regulates urokinase plasminogen activator-dependent and stimulates tissue-type plasminogen activator-dependent cell surface plasminogen activation. Proposed to be part of a local catecholaminergic cell plasminogen activation system that regulates neuroendocrine prohormone processing. Involved in regulation of inflammatory response; regulates monocyte chemotactic migration and matrix metalloproteinase activation, such as of MMP2 and MMP9., [UniProtKB, PubMed]; The plasminogen receptor Plg-RKT regulates adipose function and metabolic homeostasis., [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": "B2R6W0;Q9NZ44", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005886 plasma membrane", "go_biological_process": "GO:0010756 positive regulation of plasminogen activation;GO:0006935 chemotaxis;GO:0006954 inflammatory response", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9HBL7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRG1-1", "uniprot_id": [ { "id": "PRDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRG1", "type": "external" } ], "mass": 25674.0, "length": 225, "protein_name": "Phosphoribosyltransferase domain-containing protein 1", "gene_name": "PRTFDC1", "organism": "Human", "refseq_name": "phosphoribosyltransferase domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001269715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269715", "type": "external" } ], "gene_names_uniprotkb": "PRTFDC1; HHGP", "gene_names_refseq": "HHGP; PRTFDC1", "protein_names_uniprotkb": "Phosphoribosyltransferase domain-containing protein 1", "protein_names_refseq": "phosphoribosyltransferase domain-containing protein 1 isoform 2; phosphoribosyltransferase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56952)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "17599052;21054786;21818316;27893789;28832583;33968037;35154160;36010968;36581221;39093623", "class_list": "", "function": "Epigenetic silencing of PRTFDC1 by hypermethylation of the CpG island leads to a loss of PRTFDC1 function, which might be involved in squamous cell oral carcinogenesis., [RefSeq, PubMed]; Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage., [UniProtKB]; Rs12411980 single-nucleotide polymorphism related to PRTFDC1 expression is significantly associated with phantom tooth pain., [RefSeq, PubMed]; The PRTFDC1 structure has been determined at 1.7 A resolution with bound GMP. The overall structure and GMP binding mode are very similar to that observed for HPRT., [RefSeq, PubMed]; These results demonstrate that PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse., [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": "B7Z1Z3;Q53HA7;Q59EL9;Q5VV18;Q5VV20", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0042803 protein homodimerization activity;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006166 purine ribonucleoside salvage", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9NRG1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RF0-1", "uniprot_id": [ { "id": "SNX18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RF0", "type": "external" } ], "mass": 68894.0, "length": 628, "protein_name": "Sorting nexin-18", "gene_name": "SNX18", "organism": "Human", "refseq_name": "sorting nexin-18 isoform a", "refseq_ac": [ { "id": "NP_001096045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096045", "type": "external" } ], "gene_names_uniprotkb": "SNX18; SH3PXD3B", "gene_names_refseq": "SH3PX2; SH3PXD3B; SNAG1; SNX18", "protein_names_uniprotkb": "Sorting nexin-18; SH3 and PX domain-containing protein 3B", "protein_names_refseq": "SH3 and PX domain-containing protein 3B; sorting nexin associated golgi protein 1; sorting nexin-18 isoform a; sorting nexin-associated Golgi protein 1", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:112574); (R-HSA-8856828)", "pathway_count": 2, "publication_count": 180, "publication_id_list": "10535736;10542231;10559856;10559861;10559924;10625686;10766823;11082044;11231140;11239472;11470803;11516654;11517213;11532990;11577110;11877457;11877461;11889126;12057195;12213833;12447393;12847086;12952949;14555962;14581451;14617351;14622578;14622579;15252009;15260957;15318165;15339664;15502812;15502813;15649145;15703209;15802264;15895077;15916959;16103228;16215232;16326391;16410077;16516836;16707488;16798879;16880396;16903783;17018281;17035995;17158794;17494869;17512409;17540576;17609109;17681954;17762867;17765681;17978091;18093523;18388313;18411244;1847920;18790740;18981233;19092055;19287005;19296720;19458185;19536138;19575674;19603039;19696796;19713939;19776351;19809571;20033059;20059951;20112406;20211604;20231386;20427313;20428113;20448150;20491914;20826345;20946875;21048941;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22099461;22233676;22484487;22505844;22718350;22815487;22863004;23297414;23536704;23823722;23861397;23878278;23891661;24130457;24186068;24581490;24789820;24966051;25107275;25303366;25341920;25576301;25645385;26042225;26403691;26992070;27600516;28832583;28834231;29242379;29331515;29371260;29393594;29437695;29557506;29632711;29786170;30429286;30779550;31154438;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33537174;33592498;33968037;33981976;34087483;34185709;34509645;35051231;35580925;36010968;36284347;37217939;37938771;38665916;40914422;6146630;7877694;8524399;8552632;9092476;9100026;9427626;9428629;9635431;9736607", "class_list": "", "function": "Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis (PubMed:18411244, PubMed:20427313, PubMed:21048941, PubMed:22718350). Required for efficient progress through mitosis and cytokinesis (PubMed:22718350). Required for normal formation of the cleavage furrow at the end of mitosis (PubMed:22718350). Plays a role in endocytosis via clathrin-coated pits, but also clathrin-independent, actin-dependent fluid-phase endocytosis (PubMed:20427313). Plays a role in macropinocytosis (PubMed:21048941). Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation (PubMed:18411244). Stimulates the GTPase activity of DNM2 (PubMed:20427313). Promotes DNM2 location at the plasma membrane (PubMed:20427313). Together with DNM2, involved in autophagosome assembly by regulating trafficking from recycling endosomes of phospholipid scramblase ATG9A (PubMed:29437695)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein does not contain a coiled coil region, like some family members, but contains a SH3 domain. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; We propose a model where upon autophagy induction, SNX18 recruits Dynamin-2 to induce budding of ATG9A and ATG16L1 containing membranes from recycling endosomes that traffic to sites of autophagosome formation., [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": 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": "B4E2B3;H7BXX3;Q05BB3;Q0VG02", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0031410 cytoplasmic vesicle;GO:0055038 recycling endosome membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0015031 protein transport;GO:0043547 positive regulation of GTPase activity;GO:0016197 endosomal transport;GO:0000281 mitotic cytokinesis", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "Q96RF0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY92-1", "uniprot_id": [ { "id": "SLX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY92", "type": "external" } ], "mass": 200012.0, "length": 1834, "protein_name": "Structure-specific endonuclease subunit SLX4", "gene_name": "SLX4", "organism": "Human", "refseq_name": "structure-specific endonuclease subunit SLX4", "refseq_ac": [ { "id": "NP_115820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115820", "type": "external" } ], "gene_names_uniprotkb": "SLX4; BTBD12; KIAA1784; KIAA1987", "gene_names_refseq": "BTBD12; FANCP; MUS312; SLX4", "protein_names_uniprotkb": "Structure-specific endonuclease subunit SLX4; BTB/POZ domain-containing protein 12", "protein_names_refseq": "BTB/POZ domain-containing protein 12; structure-specific endonuclease subunit SLX4", "tax_id": 9606, "disease": "Fanconi-like syndrome (Disease Ontology:DOID:0090066); Fanconi anemia complementation group P (Disease Ontology:DOID:0111092)", "pathway": " (hsa:84464); (R-HSA-5693568); (R-HSA-6783310)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10.1101/2023.09.13.557529;11239454;12686547;12721304;14527420;15572677;16916645;16943440;17289582;17412408;17460694;17938197;18082604;18174376;18220336;18669648;18691976;18931676;19111657;19561358;19589784;19595721;19595722;19596235;19596236;19615748;19664994;19664995;19995904;20068231;20102227;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;20965415;21240275;21240277;21464321;21701511;21764741;22258451;22287633;22396592;22510687;22645308;22692201;22911665;23186163;23325218;23481700;23509288;23698467;23723247;23754376;24076221;24371268;24389026;24509834;24623813;24715725;24726325;24831703;24905007;25218447;25430771;25500724;25538220;25576301;25645385;25755297;25772364;25892735;26154972;26992070;28832583;28904123;29242379;29493099;29557506;29608566;29632711;29769354;29786170;30429286;31844290;32157095;32897882;32938616;32983136;33592498;33633747;33717175;33912179;34706224;34932366;35051231;35580925;36288699;37059091;39291733", "class_list": "", "function": "BTBD12/SLX4 was identified as the human ortholog of yeast DNA repair factor Slx4p and Drosophila MUS312; SLX4 assembles a modular toolkit for repair of specific types of DNA lesions and is critical for cellular responses to replication fork failure., [RefSeq, PubMed]; Compartmentalization of the SUMO/RNF4 pathway by SLX4 drives DNA repair., [RefSeq, PubMed]; Genetic and biochemical evidence suggest that MUS312 and BTBD12 direct Holliday junction resolution by at least two distinct endonucleases in different recombination and repair contexts., [RefSeq, PubMed]; Polyubiquitinated PCNA triggers SLX4-mediated break-induced replication in alternative lengthening of telomeres (ALT) cancer cells., [RefSeq, PubMed]; RNF168 E3 ligase participates in ubiquitin signaling and recruitment of SLX4 during DNA crosslink repair., [RefSeq, PubMed]; Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3'-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Study reports the identification of Slx4 orthologs in metazoa, including fly MUS312, essential for meiotic recombination, and human BTBD12, an ATM/ATR checkpoint kinase. GeneRIF: show that SLX4 binds the XPF(ERCC4) and MUS81 subunits of the XPF-ERCC1 and MUS81-EME1 endonucleases and is required for DNA interstrand crosslink repair., [RefSeq, PubMed]; This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [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": 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 92, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q69YT8;Q8TF15;Q96JP1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000228 nuclear chromosome;GO:0033557 Slx1-Slx4 complex;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:1904431 positive regulation of t-circle formation;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q8IY92-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWV6-1", "uniprot_id": [ { "id": "ENPP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWV6", "type": "external" } ], "mass": 51478.0, "length": 458, "protein_name": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 7", "gene_name": "ENPP7", "organism": "Human", "refseq_name": "ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor", "refseq_ac": [ { "id": "NP_848638", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848638", "type": "external" } ], "gene_names_uniprotkb": "ENPP7; PRO9912", "gene_names_refseq": "ALK-SMase; E-NPP 7; ENPP7; NPP-7; NPP7", "protein_names_uniprotkb": "Ectonucleotide pyrophosphatase/phosphodiesterase family member 7; 3.1.4.12; Alk-SMase; Alkaline sphingomyelin phosphodiesterase; E-NPP 7; Intestinal alkaline sphingomyelinase; NPP-7", "protein_names_refseq": "alkaline sphingomyelin phosphodiesterase; alkaline sphingomyelinase; ectonucleotide pyrophosphatase/phosphodiesterase family member 7 precursor; ectonucleotide pyrophosphatase/phosphodiesterase family member 7; intestinal alkaline sphingomyelinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:339221); (R-HSA-9840310)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10191093;10196694;10406958;10781797;10823942;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12671034;12885774;12888274;12909021;12975309;1352293;1352993;15003450;15016655;15205117;15213228;15340161;15458386;15714521;15773042;15845354;16229686;16230343;16255717;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;1840600;18524657;1889421;1907800;1915858;19159218;19405096;19836391;2001789;20728381;20839774;22177013;235289;239890;25100243;2562955;25892735;2717620;28126847;28292932;29242379;29443946;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;3048308;3136930;31495489;3158659;3456607;37074911;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8804427;8889578;8955159;8985184;9217013;9338580;9520418;9521684", "class_list": "", "function": "Alk-SMase activity is severely affected by defective N-glycosylation at 5 sites and by structural alterations of the putative metal-binding sites and the predicted active core., [RefSeq, PubMed]; Choline-specific phosphodiesterase that hydrolyzes sphingomyelin releasing the ceramide and phosphocholine and therefore is involved in sphingomyelin digestion, ceramide formation, and fatty acid (FA) absorption in the gastrointestinal tract (PubMed:12671034, PubMed:12885774, PubMed:15205117, PubMed:16255717, PubMed:28292932). Also has phospholipase C activity and can also cleave phosphocholine from palmitoyl lyso-phosphatidylcholine and platelet-activating factor (PAF) leading to its inactivation (PubMed:12885774, PubMed:16255717). Does not have nucleotide pyrophosphatase activity (PubMed:12885774). May promote cholesterol absorption by affecting the levels of sphingomyelin derived from either diet or endogenous sources, in the intestinal lumen (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Human alkaline sphingomyelinase crystal structure provides insights into substrate recognition, [RefSeq, PubMed]; Identified the amino acid and cDNA sequences of human intestinal alk-SMase, and found that it is a novel ecto-enzyme related to the ecto-nucleotide phosphodiesterase family with specific features essential for its SMase activity, [RefSeq, PubMed]; Intestinal alkaline sphingomyelinase may have a one-exon deletion in colon cancer cells, [RefSeq, PubMed]; NPP7 activity and the ratio of 1.4/1.2 kb products in bile are significantly decreased in malignancy, particularly in cholangiocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Predict the three-dimensional structure of NPP7 by homology modeling using a recently crystallized NPP from bacteria. Using the model, we studied the substrate specificity of the enzyme by docking., [RefSeq, PubMed]; The F275A mutation of NPP7 showed impaired catalytic function whereas L107F mutation showed enhanced catalytic activity. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 9545, "biomarker_type": "", "glycan_count": 14, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZTS5;Q8IUS8", "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" }, { "id": "3.1.4.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.38", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0008081 phosphoric diester hydrolase activity;GO:0004767 sphingomyelin phosphodiesterase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005902 microvillus", "go_biological_process": "GO:2000755 positive regulation of sphingomyelin catabolic process;GO:1904729 regulation of intestinal lipid absorption;GO:0008285 negative regulation of cell population proliferation;GO:0055089 fatty acid homeostasis;GO:0046479 glycosphingolipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q6UWV6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q658K8-1", "uniprot_id": [ { "id": "EF1DL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q658K8", "type": "external" } ], "mass": 14137.0, "length": 133, "protein_name": "Putative elongation factor 1-delta-like protein", "gene_name": "EEF1DP3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "EEF1DP3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative elongation factor 1-delta-like protein; Putative EF-1-delta-like pseudogene 3 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "27920218;29485866;31217245", "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": "Q08AR3", "ec_number_list": [], "go_molecular_function": "GO:0003746 translation elongation factor activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q658K8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC92-1", "uniprot_id": [ { "id": "ENOX1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC92", "type": "external" } ], "mass": 73348.0, "length": 643, "protein_name": "Ecto-NOX disulfide-thiol exchanger 1", "gene_name": "ENOX1", "organism": "Human", "refseq_name": "ecto-NOX disulfide-thiol exchanger 1 isoform b", "refseq_ac": [ { "id": "NP_001121087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121087", "type": "external" } ], "gene_names_uniprotkb": "ENOX1; PIG38", "gene_names_refseq": "CNOX; ENOX1; PIG38; bA64J21.1; cCNOX", "protein_names_uniprotkb": "Ecto-NOX disulfide-thiol exchanger 1; Candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase; Cell proliferation-inducing gene 38 protein; Constitutive Ecto-NOX; cCNOX; cNOX", "protein_names_refseq": "candidate growth-related and time keeping constitutive hydroquinone (NADH) oxidase; candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase; cell proliferation-inducing gene 38 protein; constitutive Ecto-NOX; ecto-NADPH oxidase disulfide-thiol exchanger 1; ecto-NOX disulfide-thiol exchanger 1 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:55068)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11360993;12565167;17027975;19055324;22744667;23481700;23939472;25645385;26154972;26992070;29557506;30429286;31092671;32357974;32712615;32938616;33912179;33968037;35051231;35580925;36010968;36240223;36284347;37938771", "class_list": "", "function": "Clinical Significance of Serum Kallistatin and ENOX1 Levels in Patients with Coronary Heart Disease., [RefSeq, PubMed]; Copper-binding capacity, enzymatic activity, and time-keeping (clock) properties, [RefSeq, PubMed]; Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]., [RefSeq]; These results indicate that this sequence variant in ENOX1 may contribute to the familial autoimmune myasthenia in these patients., [RefSeq, PubMed]; We verified that NRF-1 positively regulates FAM134C and ENOX1, and negatively regulates C3orf10 in human neuroblastoma IMR-32 cells and primary rat cortical neurons., [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": 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": "A4GU15;A6NMH9;B7Z5K1;Q2TU81;Q5VT11;Q9NWE0", "ec_number_list": [], "go_molecular_function": "GO:0003954 NADH dehydrogenase activity;GO:0003723 RNA binding;GO:0003756 protein disulfide isomerase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009897 external side of plasma membrane", "go_biological_process": "GO:0007624 ultradian rhythm", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8TC92-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV94-1", "uniprot_id": [ { "id": "EDEM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV94", "type": "external" } ], "mass": 64753.0, "length": 578, "protein_name": "ER degradation-enhancing alpha-mannosidase-like protein 2", "gene_name": "EDEM2", "organism": "Human", "refseq_name": "ER degradation-enhancing alpha-mannosidase-like protein 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001138497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138497", "type": "external" } ], "gene_names_uniprotkb": "EDEM2; C20orf31; C20orf49; PRO1135", "gene_names_refseq": "C20orf31; C20orf49; EDEM2; bA4204.1", "protein_names_uniprotkb": "ER degradation-enhancing alpha-mannosidase-like protein 2", "protein_names_refseq": "ER degradation enhancer, mannosidase alpha-like 2; ER degradation-enhancing alpha-mannosidase-like 2; ER degradation-enhancing alpha-mannosidase-like protein 2 isoform 2 precursor; ER degradation-enhancing-mannosidase-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55741); (R-HSA-901032); (R-HSA-9694548)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10409699;10694380;12913004;12975309;15537790;15579471;15713668;16431915;18003979;18264092;18417469;18426978;19084021;20802025;22915798;23232094;24715725;24910992;25092655;25418920;25892735;26992070;27600516;27846572;28832583;28904123;29242379;29393594;29557506;29632711;29769354;29786170;30315122;30429286;30484775;30779550;30833945;31154438;31844290;31848261;32065582;32157095;32350084;32363391;32366695;32387766;32518941;32556999;32676595;32938616;32983136;33123756;33141586;33310888;33392160;33592498;33717175;33912179;33968037;33981976;34117209;34171305;34428449;34509645;34528721;34599882;34932366;34961524;35051231;35251023;35580925;36284347;37938771;7986008", "class_list": "glycogene;glycosylhydrolase", "function": "A novel gene in early childhood diabetes: EDEM2 silencing decreases SLC2A2 and PXD1 expression, leading to impaired insulin secretion., [RefSeq, PubMed]; EDEM2 and OS-9 are required for ER-associated degradation of non-glycosylated sonic hedgehog Publication Status: Online-Only, [RefSeq, PubMed]; EDEM2 regulates endoplasmic reticulum-associated glycoprotein degradation, [RefSeq, PubMed]; EDEM2 stably disulfide-bonded to TXNDC11 catalyzes the first mannose trimming step in mammalian glycoprotein ERAD. Publication Status: Online-Only, [RefSeq, PubMed]; Glycoproteins mannose trimming from Man9GlcNAc2 to Man8GlcNAc2 is conducted mainly by EDEM2., [RefSeq, PubMed]; In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins (Mast et al., 2005 [PubMed 15537790]).[supplied by OMIM, Mar 2008]., [RefSeq]; Involved in the endoplasmic reticulum-associated degradation (ERAD) pathway that targets misfolded glycoproteins for degradation in an N-glycan-dependent manner (PubMed:15537790, PubMed:25092655). May initiate ERAD by promoting the first mannose trimming step of ERAD substrates, from Man9GlcNAc2 to Man8GlcNAc2 (PubMed:25092655). Seems to recognize and bind to exposed hydrophobic regions in target proteins (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Overexpression of EDEM2 accelerates the degradation of misfolded alpha1-antitrypsin, indicating that the protein is involved in endoplasmic reticulum associated degradation. GeneRIF: Degrades misfolded alpha1-antitrypsin in the ER. Erratum:[Glycobiology. 2005 May;15(5):13G], [RefSeq, PubMed]", "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": 1, "reported_glycation": 0, "reported_snv": 616, "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": "B4DTG9;Q6GU33;Q6IA89;Q6UWZ4;Q9H4U0;Q9H886;Q9NTL9;Q9NVE6", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004571 mannosyl-oligosaccharide 1,2-alpha-mannosidase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane;GO:0044322 endoplasmic reticulum quality control compartment", "go_biological_process": "GO:0019082 viral protein processing;GO:0005975 carbohydrate metabolic process;GO:0030968 endoplasmic reticulum unfolded protein response;GO:0036503 ERAD pathway;GO:1904380 endoplasmic reticulum mannose trimming", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9BV94-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXX0-1", "uniprot_id": [ { "id": "EMIL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXX0", "type": "external" } ], "mass": 115687.0, "length": 1053, "protein_name": "EMILIN-2", "gene_name": "EMILIN2", "organism": "Human", "refseq_name": "EMILIN-2 precursor", "refseq_ac": [ { "id": "NP_114437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114437", "type": "external" } ], "gene_names_uniprotkb": "EMILIN2", "gene_names_refseq": "EMILIN-2; EMILIN2; FOAP-10", "protein_names_uniprotkb": "EMILIN-2; Elastin microfibril interface-located protein 2; Elastin microfibril interfacer 2; Protein FOAP-10", "protein_names_refseq": "EMILIN-2 precursor; elastin microfibril interface-located protein 2; extracellular glycoprotein EMILIN-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84034); (R-HSA-2129379)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10025398;10424889;10544250;10646116;10930463;11278945;11970960;12358597;12415008;12429738;1400330;14701737;1708799;17324935;17693683;17698584;17988845;18339631;19159218;21646718;22424782;23481700;23584533;24190977;24715725;27600516;29242379;29483644;29493099;29557506;29769354;29786170;30115740;30429286;30459171;30544909;31844290;32157095;32295785;32350084;32387766;32897882;32938616;32983136;33123756;33141586;33392160;33717175;33968037;34171305;34280481;34509645;34561969;35051231;35251023;35561310;35580925;35588228;36010968;37074911;37217939;38874360;7500359;7534784;9725916", "class_list": "", "function": "Decreased EMILIN2 correlates to metabolism phenotype and poor prognosis of ovarian cancer., [RefSeq, PubMed]; EMILIN1 interacts with anthrax protective antigen and inhibits toxin action in vitro. EMILIN1 may be a potential target and/or a protein useful for countermeasures against B. anthracis toxin lethality., [RefSeq, PubMed]; Expression, methylation and prognostic feature of EMILIN2 in Low-Grade-Glioma., [RefSeq, PubMed]; HPV-18 E6 enhances the interaction between EMILIN2 and SNX27 to promote WNT signaling., [RefSeq, PubMed]; High EMILIN2 expression is associated with angiogenesis in B16 melanoma., [RefSeq, PubMed]; Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis Publication Status: Online-Only, [RefSeq, PubMed]; May be responsible for anchoring smooth muscle cells to elastic fibers, and may be involved not only in the formation of the elastic fiber, but also in the processes that regulate vessel assembly. Has cell adhesive capacity., [UniProtKB]; Results suggest that the expression of EMILIN2 triggers the apoptosis of different cell lines by activation of death receptors., [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": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 7, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 64, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 0, "glyco_site_count": 30, "binding_glycan_count": 0, "secondary_ac_list": "B2RMY3;Q8NBH3;Q96JQ4", "ec_number_list": [], "go_molecular_function": "GO:0030023 extracellular matrix constituent conferring elasticity", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0001527 microfibril;GO:0071953 elastic fiber", "go_biological_process": "GO:0042127 regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0008217 regulation of blood pressure;GO:0030336 negative regulation of cell migration;GO:0045766 positive regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q9BXX0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H329-1", "uniprot_id": [ { "id": "E41LB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H329", "type": "external" } ], "mass": 99712.0, "length": 900, "protein_name": "Band 4.1-like protein 4B", "gene_name": "EPB41L4B", "organism": "Human", "refseq_name": "band 4.1-like protein 4B isoform 1", "refseq_ac": [ { "id": "NP_060894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060894", "type": "external" } ], "gene_names_uniprotkb": "EPB41L4B; EHM2; LULU2", "gene_names_refseq": "CG1; EHM2; EPB41L4B; LULU2", "protein_names_uniprotkb": "Band 4.1-like protein 4B; Erythrocyte membrane protein band 4.1-like 4B; FERM-containing protein CG1; Protein EHM2", "protein_names_refseq": "FERM-containing protein CG1; band 4.1-like protein 4B isoform 1; band 4.1-like protein 4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:54566)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10603000;10783258;14521927;22006950;23481700;23664528;25576301;25892735;26217016;28218747;28834231;28904123;29437277;29557506;30379171;30410026;30429286;30440051;30779550;30816447;31154438;31530632;31844290;31848261;32157095;33912179;33968037;35051231;35580925;36422008;37938771;38253038", "class_list": "", "function": "CRB3A recruits p114RhoGEF and its activator Ehm2 to the cell periphery using both functional motifs of its cytoplasmic tail and increases RhoA activation levels., [RefSeq, PubMed]; Data show that the two Ehm2 variants appear to be differentially expressed in lung adenocarcinoma. Ehm2/1 may function as a putative tumor suppressor in the disease progression of lung adenocarcinoma, while Ehm2/2 may have an opposite function., [RefSeq, PubMed]; Ehm2 may be an important player in the wound healing process; Ehm2 knockdown downregulates the expression of NWasp, through which it may have its effect on cellular migration, [RefSeq, PubMed]; Ehm2 transcript variant 1 inhibits breast cancer progression and increases E-cadherin stability., [RefSeq, PubMed]; Up-regulates the activity of the Rho guanine nucleotide exchange factor ARHGEF18 (By similarity). Involved in the regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). Promotes cellular adhesion, migration and motility in vitro and may play a role in wound healing (PubMed:23664528). May have a role in mediating cytoskeletal changes associated with steroid-induced cell differentiation (PubMed:14521927)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; We found that CRB3-induced proliferation is epidermal growth factor (EGF)-independent and occurs through a mechanism that involves secretion of the EGF-family ligand, amphiregulin (AREG)..We identified the FBD-containing protein, EPB41L4B, as an essential mediator of CRB3-driven proliferation and observed that the CRB3-dependent changes in endocytic trafficking were also dependent on EPB41L4B 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": 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": 33, "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": "Q5T4G5;Q5T4G6;Q9H328;Q9P2V3", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0045177 apical part of cell", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0045785 positive regulation of cell adhesion;GO:0051549 positive regulation of keratinocyte migration;GO:0031032 actomyosin structure organization;GO:0042060 wound healing", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9H329-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HA90-1", "uniprot_id": [ { "id": "EFCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HA90", "type": "external" } ], "mass": 65701.0, "length": 598, "protein_name": "EF-hand and coiled-coil domain-containing protein 1", "gene_name": "EFCC1", "organism": "Human", "refseq_name": "EF-hand and coiled-coil domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_079044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079044", "type": "external" } ], "gene_names_uniprotkb": "EFCC1; C3orf73; CCDC48", "gene_names_refseq": "C3orf73; CCDC48; EFCC1", "protein_names_uniprotkb": "EF-hand and coiled-coil domain-containing protein 1; Coiled-coil domain-containing protein 48", "protein_names_refseq": "EF-hand and coiled-coil domain-containing protein 1 isoform 2; EF-hand and coiled-coil domain-containing protein 1; EF-hand domain-containing protein ENSP00000381169; coiled-coil domain containing 48; coiled-coil domain-containing protein 48", "tax_id": 9606, "disease": "", "pathway": " (hsa:79825)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;24715725;28228285;28832583;29242379;31848261;32157095;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": 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": "A8MYE2", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9HA90-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCS5-1", "uniprot_id": [ { "id": "E41LA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCS5", "type": "external" } ], "mass": 79059.0, "length": 686, "protein_name": "Band 4.1-like protein 4A", "gene_name": "EPB41L4A", "organism": "Human", "refseq_name": "band 4.1-like protein 4A isoform 1", "refseq_ac": [ { "id": "NP_001334816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334816", "type": "external" } ], "gene_names_uniprotkb": "EPB41L4A; EPB41L4", "gene_names_refseq": "EPB41L4A; EPB41L4; NBL4", "protein_names_uniprotkb": "Band 4.1-like protein 4A; Erythrocyte membrane protein band 4.1-like 4A; Protein NBL4", "protein_names_refseq": "band 4.1-like protein 4A isoform 1; band 4.1-like protein 4A; erythrocyte protein band 4.1-like 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:64097)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10874211;17081983;23186163;28657654;29393594;29493099;29632711;29786170;30429286;31848261;32157095;32161166;32938616;35051231;36241641", "class_list": "", "function": "The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 36, "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": "A4FUI6", "ec_number_list": [], "go_molecular_function": "GO:0008092 cytoskeletal protein binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0016020 membrane", "go_biological_process": "GO:0031032 actomyosin structure organization", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9HCS5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQZ7-1", "uniprot_id": [ { "id": "ENTP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQZ7", "type": "external" } ], "mass": 68960.0, "length": 604, "protein_name": "Ectonucleoside triphosphate diphosphohydrolase 7", "gene_name": "ENTPD7", "organism": "Human", "refseq_name": "ectonucleoside triphosphate diphosphohydrolase 7 isoform 2", "refseq_ac": [ { "id": "NP_065087", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065087", "type": "external" } ], "gene_names_uniprotkb": "ENTPD7; LALP1", "gene_names_refseq": "ENTPD7; LALP1", "protein_names_uniprotkb": "Ectonucleoside triphosphate diphosphohydrolase 7; 3.6.1.15; Lysosomal apyrase-like protein 1; NTPDase 7", "protein_names_refseq": "NTPDase 7; ectonucleoside triphosphate diphosphohydrolase 7 isoform 2; lysosomal apyrase-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57089); (R-HSA-8850843)", "pathway_count": 2, "publication_count": 53, "publication_id_list": "10.1101/2023.09.13.557529;10400613;10470077;10510450;10681547;10866813;10948193;11041856;11041857;11237011;11278936;11927941;11929769;12694193;12888562;14529283;14675084;15122917;15130768;16338080;17095758;17502665;18404504;18404510;19640930;20682839;21074248;21586362;22169232;23241884;24190977;25576301;28649982;28657654;28832583;29493099;29557506;30379171;32157095;32350084;32387766;32938616;33936100;33968037;35051231;35251023;36215666;36284347;8955160;8995405;9364474;9556635;9675246", "class_list": "", "function": "Catalyzes the hydrolysis of nucleoside triphosphates and diphosphates in a calcium- or magnesium-dependent manner. Preferentially hydrolyzes nucleoside 5'-triphosphates, with substrate preference for UTP > GTP > CTP. Hydrolyzes ATP and nucleoside diphosphates only to a minor extent., [UniProtKB, PubMed]; This gene encodes a purine-converting ectoenzyme which belongs to the ecto-nucleoside triphosphate diphosphohydrolase (E-NTPDase) family. The encoded protein hydrolyzes extracellular nucleoside triphosphates (UTP, GTP, and CTP) to nucleoside monophosphates as part of a purinergic signaling pathway. It contains two transmembrane domains at the N- and C-termini and a large, hydrophobic catalytic domain located in between. This gene affects oxidative stress as well as DNA damage and is a mediator of senescence. [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": 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": 2, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2RB83;B3KP21;D3DR64", "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": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.1.6", "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:0046872 metal ion binding;GO:0004382 GDP phosphatase activity;GO:0045134 UDP phosphatase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0030659 cytoplasmic vesicle membrane;GO:0030666 endocytic vesicle membrane", "go_biological_process": "GO:0006256 UDP catabolic process;GO:0034656 nucleobase-containing small molecule catabolic process;GO:0050776 regulation of immune response;GO:0046039 GTP metabolic process;GO:0072539 T-helper 17 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9NQZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NT22-1", "uniprot_id": [ { "id": "EMIL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NT22", "type": "external" } ], "mass": 82647.0, "length": 766, "protein_name": "EMILIN-3", "gene_name": "EMILIN3", "organism": "Human", "refseq_name": "EMILIN-3 precursor", "refseq_ac": [ { "id": "NP_443078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443078", "type": "external" } ], "gene_names_uniprotkb": "EMILIN3; C20orf130; EMILIN5", "gene_names_refseq": "C20orf130; EMILIN3; EMILIN5; dJ620E11.4", "protein_names_uniprotkb": "EMILIN-3; EMILIN-5; Elastin microfibril interface-located protein 3; Elastin microfibril interface-located protein 5; Elastin microfibril interfacer 3; Elastin microfibril interfacer 5", "protein_names_refseq": "EMILIN-3 precursor; EMILIN-3; EMILIN-5; elastin microfibril interface-located protein 3; elastin microfibril interface-located protein 5; elastin microfibril interfacer 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:90187); (R-HSA-2129379)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;10025398;10424889;10544250;10646116;10930463;11970960;12358597;12415008;12429738;1400330;14701737;14706625;1708799;17324935;18158787;18339631;21646718;22334695;29557506;29794476;30429286;30459171;30484775;33392160;34171305;35051231;36215666;37074911;7500359;7534784;9725916", "class_list": "", "function": "Characterization of the expression and biochemical properties of EMILIN-3, [RefSeq, PubMed]; EMILIN-5 gene plays an important role in skeletal development(EMILIN-5), [RefSeq, PubMed]; Might play important roles in carcinogenesis of esophageal cancer., [RefSeq, PubMed]; This study identified and validated a three-gene (EMP3, GSX2 and EMILIN3) prognostic signature in Lower-Grade Gliomas., [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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q495S5;Q495S6;Q495S7;Q76KT4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0030023 extracellular matrix constituent conferring elasticity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:1990971 EMILIN complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9NT22-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXB9-1", "uniprot_id": [ { "id": "ELOV2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXB9", "type": "external" } ], "mass": 34585.0, "length": 296, "protein_name": "Very long chain fatty acid elongase 2", "gene_name": "ELOVL2", "organism": "Human", "refseq_name": "very long chain fatty acid elongase 2", "refseq_ac": [ { "id": "NP_060240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060240", "type": "external" } ], "gene_names_uniprotkb": "ELOVL2; ELG3; SSC2", "gene_names_refseq": "ELOVL2; SSC2", "protein_names_uniprotkb": "Very long chain fatty acid elongase 2; 2.3.1.199; 3-keto acyl-CoA synthase ELOVL2; ELOVL FA elongase 2; ELOVL fatty acid elongase 2; Elongation of very long chain fatty acids protein 2; Very long chain 3-ketoacyl-CoA synthase 2; Very long chain 3-oxoacyl-CoA synthase 2", "protein_names_refseq": "3-keto acyl-CoA synthase ELOVL2; ELOVL FA elongase 2; elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2; elongation of very long chain fatty acids protein 2; very long chain 3-ketoacyl-CoA synthase 2; very long chain 3-oxoacyl-CoA synthase 2; very long chain fatty acid elongase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54898); (R-HSA-2046105); (R-HSA-2046106); (R-HSA-75876)", "pathway_count": 4, "publication_count": 66, "publication_id_list": "10548543;10601301;10769175;10899997;10954726;10970790;11500517;11734209;11734571;11889465;11988075;12323085;12323090;12371743;12482854;12525535;12562861;12713571;12716664;12897190;12975357;1346092;14636670;15469937;16036915;16371355;17379924;17681178;17762044;18003621;1834642;18538142;18554506;18728184;19056654;19505953;19575253;19826053;20937905;21959040;26375851;26992070;30429286;31844290;32488085;32502341;32938616;33109704;34171305;34841437;35580925;35640821;36768576;37493252;37938771;38422897;5411545;7061494;8075637;8096621;8609415;8656081;8832760;9684854;9704073;9732298", "class_list": "glycogene", "function": "An ELOVL2-Based Epigenetic Clock for Forensic Age Prediction: A Systematic Review. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA), acting specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. May participate in the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators., [UniProtKB, PubMed, PubMed, HAMAP, PubMed, PubMed]; ELOVL2 promotes cancer progression by inhibiting cell apoptosis in renal cell carcinoma., [RefSeq, PubMed]; ELOVL2 restrains cell proliferation, migration, and invasion of prostate cancer via regulation of the tumor suppressor INPP4B., [RefSeq, PubMed]; ELOVL2-methylation and renal and cardiovascular event in patients with chronic kidney disease., [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": 368, "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": "Q6P9E1;Q86W94", "ec_number_list": [ { "id": "2.3.1.199", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.199", "type": "external" } ], "go_molecular_function": "GO:0009922 fatty acid elongase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0036109 alpha-linolenic acid metabolic process;GO:0030148 sphingolipid biosynthetic process;GO:0035338 long-chain fatty-acyl-CoA biosynthetic process;GO:0043651 linoleic acid metabolic process;GO:0006636 unsaturated fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9NXB9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6H9-1", "uniprot_id": [ { "id": "LV469_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6H9", "type": "external" } ], "mass": 12773.0, "length": 119, "protein_name": "Immunoglobulin lambda variable 4-69", "gene_name": "IGLV4-69", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV4-69", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 4-69", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "11872955;17576170;20176268;22158414;24600447;33912179;33936100;34433824", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 472, "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": 0.9, "record_id": "A0A075B6H9-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6J6-1", "uniprot_id": [ { "id": "LV322_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6J6", "type": "external" } ], "mass": 12549.0, "length": 115, "protein_name": "Immunoglobulin lambda variable 3-22", "gene_name": "IGLV3-22", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV3-22", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 3-22", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "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": 233, "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: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": 0.6, "record_id": "A0A075B6J6-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6J9-1", "uniprot_id": [ { "id": "LV218_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6J9", "type": "external" } ], "mass": 12412.0, "length": 118, "protein_name": "Immunoglobulin lambda variable 2-18", "gene_name": "IGLV2-18", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV2-18", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 2-18", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11872955;17576170;20176268;22158414;24600447;32350084", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 273, "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": 0.7, "record_id": "A0A075B6J9-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6K0-1", "uniprot_id": [ { "id": "LV316_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6K0", "type": "external" } ], "mass": 12466.0, "length": 115, "protein_name": "Immunoglobulin lambda variable 3-16", "gene_name": "IGLV3-16", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV3-16", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 3-16", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 350, "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": 0.6, "record_id": "A0A075B6K0-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6K5-1", "uniprot_id": [ { "id": "LV39_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6K5", "type": "external" } ], "mass": 12332.0, "length": 115, "protein_name": "Immunoglobulin lambda variable 3-9", "gene_name": "IGLV3-9", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV3-9", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 3-9", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 368, "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": 0.6, "record_id": "A0A075B6K5-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0A0MT89-1", "uniprot_id": [ { "id": "KJ01_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0A0MT89", "type": "external" } ], "mass": 1394.0, "length": 12, "protein_name": "Immunoglobulin kappa joining 1", "gene_name": "IGKJ1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKJ1", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa joining 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11549845;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "J region of the variable domain of immunoglobulin kappa light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0A0MT89-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0G2JS06-1", "uniprot_id": [ { "id": "LV539_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0G2JS06", "type": "external" } ], "mass": 13394.0, "length": 123, "protein_name": "Immunoglobulin lambda variable 5-39", "gene_name": "IGLV5-39", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV5-39", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 5-39", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11872955;17576170;20176268;22158414;24600447", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0.6, "record_id": "A0A0G2JS06-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "F2Z398-1", "uniprot_id": [ { "id": "LMO7D_HUMAN", "url": "https://www.uniprot.org/uniprot/F2Z398", "type": "external" } ], "mass": 13273.0, "length": 122, "protein_name": "LMO7 downstream neighbor protein", "gene_name": "LMO7DN", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LMO7DN; C13orf45", "gene_names_refseq": "", "protein_names_uniprotkb": "LMO7 downstream neighbor 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": "Q8NAG9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "F2Z398-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUP9-1", "uniprot_id": [ { "id": "LIN7C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUP9", "type": "external" } ], "mass": 21834.0, "length": 197, "protein_name": "Protein lin-7 homolog C", "gene_name": "LIN7C", "organism": "Human", "refseq_name": "protein lin-7 homolog C", "refseq_ac": [ { "id": "NP_060832", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060832", "type": "external" } ], "gene_names_uniprotkb": "LIN7C; MALS3; VELI3", "gene_names_refseq": "LIN-7-C; LIN-7C; LIN7C; MALS-3; MALS3; VELI3", "protein_names_uniprotkb": "Protein lin-7 homolog C; Lin-7C; MALS-3; Mammalian lin-seven protein 3; Veli-3; Vertebrate lin-7 homolog 3", "protein_names_refseq": "LIN-7 protein 3; lin-7 homolog C, crumbs cell polarity complex component; mammalian LIN-7 3; mammalian lin-seven protein 3; protein lin-7 homolog C; veli-3; vertebrate LIN7 homolog 3; vertebrate lin-7 homolog 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55327); (R-HSA-212676); (R-HSA-6794361); (R-HSA-9609736)", "pathway_count": 4, "publication_count": 76, "publication_id_list": "11237011;11604393;12519779;12967566;15540461;15935055;16242404;16624946;16846852;17237226;17478680;17855605;17891149;17897391;17989281;17997397;18617632;18812509;18829961;20064387;20064388;20519524;20702775;21282647;21849460;23301498;23481700;24714562;24715725;25378172;26728094;26992070;27600516;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29557506;29786170;30315122;30410026;30429286;30484775;30590034;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32938616;32983136;33592498;33691108;33912179;33968037;34171305;35051231;35318648;35561310;36010968;36241641;36284347;37938771;7695896;7736595;8576240;9069287;9701566;9753324;9808458;9927700", "class_list": "", "function": "Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity). This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity;GO:0008092 cytoskeletal protein binding;GO:0030165 PDZ domain binding;GO:0097016 L27 domain binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005923 bicellular tight junction", "go_biological_process": "GO:0015031 protein transport;GO:0007269 neurotransmitter secretion;GO:0006887 exocytosis;GO:0002011 morphogenesis of an epithelial sheet;GO:0048489 synaptic vesicle transport", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9NUP9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NK58-1", "uniprot_id": [ { "id": "LIPT2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NK58", "type": "external" } ], "mass": 25195.0, "length": 231, "protein_name": "Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial", "gene_name": "LIPT2", "organism": "Human", "refseq_name": "octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001138341", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138341", "type": "external" } ], "gene_names_uniprotkb": "LIPT2", "gene_names_refseq": "LIPT2", "protein_names_uniprotkb": "Octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial; 2.3.1.181; Lipoate-protein ligase B; Lipoyl/octanoyl transferase; Lipoyltransferase 2; Octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase", "protein_names_refseq": "lipoate-protein ligase B; lipoyl(octanoyl) transferase 2 (putative); octanoyl-[acyl-carrier-protein]-protein N-octanoyltransferase; octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial isoform 1 precursor; octanoyl-[acyl-carrier-protein]:protein N-octanoyltransferase LIPT2, mitochondrial; putative lipoyltransferase 2, mitochondrial; putative octanoyltransferase, mitochondrial", "tax_id": 9606, "disease": "neonatal severe encephalopathy with lactic acidosis and brain abnormalities (Disease Ontology:DOID:0070752); dystonia (Disease Ontology:DOID:543); glycine encephalopathy (Disease Ontology:DOID:9268)", "pathway": " (hsa:387787); (R-HSA-9857492)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10103005;11237011;11389890;19570983;21846720;22152680;24256811;24341803;28628643;28757203;29393594;29557506;29632046;29987032;31042466;34171305;37453661;37481209", "class_list": "", "function": "Catalyzes the transfer of endogenously produced octanoic acid from octanoyl-acyl-carrier-protein (octanoyl-ACP) onto the lipoyl domains of lipoate-dependent enzymes such as the protein H of the glycine cleavage system (GCSH) (PubMed:28757203). Lipoyl-ACP can also act as a substrate although octanoyl-ACP is likely to be the physiological substrate (By similarity)., [UniProtKB, PubMed, UniProtKB]; The authors report on the identification of biallelic LIPT2 mutations in three affected individuals from two families with severe neonatal encephalopathy where a normalization of lipoylation was observed after expression of wild-type LIPT2, arguing for LIPT2 requirement in intramitochondrial lipoate synthesis., [RefSeq, PubMed]; This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [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": 1, "reported_glycation": 0, "reported_snv": 1, "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": [ { "id": "2.3.1.181", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.181", "type": "external" } ], "go_molecular_function": "GO:0016874 ligase activity;GO:0033819 lipoyl(octanoyl) transferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0009249 protein lipoylation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "A6NK58-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75019-1", "uniprot_id": [ { "id": "LIRA1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75019", "type": "external" } ], "mass": 53275.0, "length": 489, "protein_name": "Leukocyte immunoglobulin-like receptor subfamily A member 1", "gene_name": "LILRA1", "organism": "Human", "refseq_name": "leukocyte immunoglobulin-like receptor subfamily A member 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001265247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265247", "type": "external" } ], "gene_names_uniprotkb": "LILRA1; LIR6", "gene_names_refseq": "CD85I; LILRA1; LIR-6; LIR6", "protein_names_uniprotkb": "Leukocyte immunoglobulin-like receptor subfamily A member 1; CD85 antigen-like family member I; LIR-6; Leukocyte immunoglobulin-like receptor 6", "protein_names_refseq": "CD85 antigen-like family member I; leucocyte Ig-like receptor A1; leukocyte immunoglobulin-like receptor 6; leukocyte immunoglobulin-like receptor subfamily A member 1 isoform 2 precursor; leukocyte immunoglobulin-like receptor subfamily A member 1; leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11024); (R-HSA-198933)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10499918;10746781;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;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;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;25703557;25716998;26284469;26300885;29557506;31844290;32387766;7531291;7542404;8178173;8995416;9285412;9314561;9548455;9700512;9730896", "class_list": "", "function": "May act as receptor for class I MHC antigens., [UniProtKB]; This gene encodes an activating member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein is predominantly expressed in B cells, interacts with major histocompatibility complex class I ligands, and contributes to the regulation of immune responses. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "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": 35, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "O75018;Q3MJA6", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0003823 antigen binding;GO:0032396 inhibitory MHC class I receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0002767 immune response-inhibiting cell surface receptor signaling pathway;GO:0006952 defense response;GO:0007166 cell surface receptor signaling pathway;GO:0002250 adaptive immune response;GO:0140105 interleukin-10-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O75019-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01700-1", "uniprot_id": [ { "id": "LV147_HUMAN", "url": "https://www.uniprot.org/uniprot/P01700", "type": "external" } ], "mass": 12284.0, "length": 117, "protein_name": "Immunoglobulin lambda variable 1-47", "gene_name": "IGLV1-47", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV1-47", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 1-47; Ig lambda chain V-I region HA; Ig lambda chain V-I region WAH", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 532, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "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, 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"P01714-1", "uniprot_id": [ { "id": "LV319_HUMAN", "url": "https://www.uniprot.org/uniprot/P01714", "type": "external" } ], "mass": 12042.0, "length": 112, "protein_name": "Immunoglobulin lambda variable 3-19", "gene_name": "IGLV3-19", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV3-19", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 3-19; Ig lambda chain V-III region SH", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 533, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 427, "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": "A0A075B6J8", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 53.4, "record_id": "P01714-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51884-1", "uniprot_id": [ { "id": "LUM_HUMAN", "url": "https://www.uniprot.org/uniprot/P51884", "type": "external" } ], "mass": 38429.0, "length": 338, "protein_name": "Lumican", "gene_name": "LUM", "organism": "Human", "refseq_name": "lumican precursor", "refseq_ac": [ { "id": "NP_002336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002336", "type": "external" } ], "gene_names_uniprotkb": "LUM; LDC; SLRR2D", "gene_names_refseq": "LDC; LUM; SLRR2D", "protein_names_uniprotkb": "Lumican; KSPG lumican; Keratan sulfate proteoglycan lumican", "protein_names_refseq": "KSPG lumican; epididymis secretory sperm binding protein; keratan sulfate proteoglycan lumican; lumican precursor; lumican proteoglycan", "tax_id": 9606, "disease": "myopia (Disease Ontology:DOID:11830); Ehlers-Danlos syndrome classic type 1 (Disease Ontology:DOID:14720); pancreatic cancer (Disease Ontology:DOID:1793); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); ureteral obstruction (Disease Ontology:DOID:5199); varicose veins (Disease Ontology:DOID:799)", "pathway": " (hsa:4060); (R-HSA-2022854); (R-HSA-2022857); (R-HSA-216083); (R-HSA-3000178); (R-HSA-3656225); (R-HSA-3656243); (R-HSA-3656244)", "pathway_count": 8, "publication_count": 178, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10206952;10209034;10339611;10366422;10438935;10491328;10504389;10543983;10593924;10605720;10640428;10673326;10673366;10713152;10811134;10982388;11017086;11030741;11042166;11042394;11084047;11158588;11259413;11283017;11518510;11572855;11588157;11713259;11821425;11901181;11980922;12218059;12225811;12496264;12585966;12682293;12807887;12888274;1376317;14551184;1463457;14715956;14760718;15013869;15075323;1522213;15240572;15296743;15330449;15345499;15383545;1544908;15486459;15560372;15620693;15647514;15713743;1588291;15899827;16002701;16051604;16239428;16293224;16335952;16493581;16731529;16754661;16933105;17021253;17120046;1714903;17339034;17588949;1794986;17968485;18710925;18775695;1907800;19159218;1928092;19502598;20033473;2010551;20232353;2059554;20705068;21081667;21220648;21642437;21789315;21907012;22134916;22539938;22884367;22940367;23090970;23252400;23271734;23374253;2364322;2412224;24190977;2420006;2430969;27726376;28467828;29351928;29391424;29427759;29557506;29632711;29671580;2971395;29741879;29786170;29789417;30429286;30459171;31844290;3196333;32125861;32157095;34516336;34725484;35051231;36059026;36284347;37074911;37327869;37956822;38034954;38129820;38665916;5822067;6193777;6439184;7213753;7499434;7505120;7525578;7527058;7541634;7542249;7542669;7558030;7559467;7665616;7685013;7693733;7852349;8002934;8118028;8333853;8344274;8440685;8560266;8611500;8798654;8838667;8910476;8920913;8943283;9251239;9252349;9294172;9341124;9346959;9405439;9417100;9443892;9521684;9565552;9597550;9685393;9858236;9949188", "class_list": "glycogene", "function": "Circulating lumican as a potential biomarker for osteosarcopenia in older adults., [RefSeq, PubMed]; LUM as a novel prognostic marker and its correlation with immune infiltration in gastric cancer: a study based on immunohistochemical analysis and bioinformatics. Publication Status: Online-Only, [RefSeq, PubMed]; Lumican is elevated in the lung in human and experimental acute respiratory distress syndrome and promotes early fibrotic responses to lung injury. Publication Status: Online-Only, [RefSeq, PubMed]; Lumican silencing alleviates tumor necrosis factor-alpha-induced nucleus pulposus cell inflammation and senescence by inhibiting apoptosis signal regulating kinase 1/p38 signaling pathway via inactivating Fas ligand expression., [RefSeq, PubMed]; The versatile roles of lumican in eye diseases: A review. Review article, [RefSeq, PubMed]; This gene encodes a member of the small leucine-rich proteoglycan (SLRP) family that includes decorin, biglycan, fibromodulin, keratocan, epiphycan, and osteoglycin. In these bifunctional molecules, the protein moiety binds collagen fibrils and the highly charged hydrophilic glycosaminoglycans regulate interfibrillar spacings. Lumican is the major keratan sulfate proteoglycan of the cornea but is also distributed in interstitial collagenous matrices throughout the body. Lumican may regulate collagen fibril organization and circumferential growth, corneal transparency, and epithelial cell migration and tissue repair. [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": 1, "mined_n_glycosites": 1, "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "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": 384, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 300, "disease_count": 7, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B2R6R5;Q96QM7", "ec_number_list": [], "go_molecular_function": "GO:0005518 collagen binding;GO:0005201 extracellular matrix structural constituent;GO:0030021 extracellular matrix structural constituent conferring compression resistance", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:1904010 response to Aroclor 1254;GO:0032914 positive regulation of transforming growth factor beta1 production;GO:0007601 visual perception;GO:0030199 collagen fibril organization;GO:0070848 response to growth factor", "synthesized_glycan_count": 0, "hit_score": 48.6, "record_id": "P51884-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100001001.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P80748-1", "uniprot_id": [ { "id": "LV321_HUMAN", "url": "https://www.uniprot.org/uniprot/P80748", "type": "external" } ], "mass": 12446.0, "length": 117, "protein_name": "Immunoglobulin lambda variable 3-21", "gene_name": "IGLV3-21", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGLV3-21", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin lambda variable 3-21; Ig lambda chain V-III region LOI; Ig lambda chain V-V region DEL; Ig lambda chain V-VII region MOT", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 509, "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": "A0A075B6J7;P01719;P01720", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 54.0, "record_id": "P80748-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03252-1", "uniprot_id": [ { "id": "LMNB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03252", "type": "external" } ], "mass": 69948.0, "length": 620, "protein_name": "Lamin-B2", "gene_name": "LMNB2", "organism": "Human", "refseq_name": "lamin-B2", "refseq_ac": [ { "id": "NP_116126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116126", "type": "external" } ], "gene_names_uniprotkb": "LMNB2; LMN2", "gene_names_refseq": "EPM9; LAMB2; LMN2; LMNB2; MCPH27", "protein_names_uniprotkb": "Lamin-B2", "protein_names_refseq": "epididymis secretory sperm binding protein; lamin B3; lamin-B2", "tax_id": 9606, "disease": "congenital muscular dystrophy (Disease Ontology:DOID:0050557); autosomal dominant primary microcephaly 27 (Disease Ontology:DOID:0051038); familial partial lipodystrophy type 2 (Disease Ontology:DOID:0070202); autosomal dominant Emery-Dreifuss muscular dystrophy 2 (Disease Ontology:DOID:0070247); autosomal recessive Emery-Dreifuss muscular dystrophy 3 (Disease Ontology:DOID:0070248); partial lipodystrophy (Disease Ontology:DOID:0080299); dilated cardiomyopathy 1A (Disease Ontology:DOID:0110425); congenital muscular dystrophy due to LMNA mutation (Disease Ontology:DOID:0110640); progressive myoclonus epilepsy 9 (Disease Ontology:DOID:0111450); Emery-Dreifuss muscular dystrophy (Disease Ontology:DOID:11726); progeria (Disease Ontology:DOID:3911); myopathy (Disease Ontology:DOID:423); muscular dystrophy (Disease Ontology:DOID:9884); lipodystrophy, partial, acquired, susceptibility to (MONDO:MONDO:0100476)", "pathway": " (hsa:84823)", "pathway_count": 1, "publication_count": 98, "publication_id_list": "1630457;16826530;16959974;17070523;17081983;18220336;18669648;18691976;19367720;19608861;19690332;20068231;21406692;22424782;22768673;23186163;24275569;24715725;25418920;25576301;25755297;25954030;26237509;26811146;26929215;26992070;27452731;27535533;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30429286;30484775;30524438;30833945;31154438;31217245;31530632;31844290;32119511;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33033404;33091337;33141586;33214551;33298915;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34725712;34932366;35051231;35561310;35580925;35775376;36010968;36284347;37044185;37938771;38665916;40596516;40914422", "class_list": "", "function": "Human lamin B(2) is indeed synthesized as a longer version than previously reported, because it contains these additional 20 amino acids, [RefSeq, PubMed]; Lamin B2 contributes to the proliferation of bladder cancer cells via activating the expression of cell division cycleassociated protein 3., [RefSeq, PubMed]; Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:33033404). Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics (PubMed:33033404). The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively (PubMed:33033404)., [UniProtKB, PubMed]; The role of lamin B2 in human diseases. Review article, [RefSeq, PubMed]; This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [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": 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": 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": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 14, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "O75292;Q14734;Q96DF6", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0042802 identical protein binding", "go_cellular_component": "GO:0031965 nuclear membrane;GO:0005882 intermediate filament;GO:0005652 nuclear lamina", "go_biological_process": "GO:0090435 protein localization to nuclear envelope;GO:0006998 nuclear envelope organization;GO:0031507 heterochromatin formation;GO:0007097 nuclear migration;GO:0051664 nuclear pore localization", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q03252-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VAK6-1", "uniprot_id": [ { "id": "LMOD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VAK6", "type": "external" } ], "mass": 64914.0, "length": 560, "protein_name": "Leiomodin-3", "gene_name": "LMOD3", "organism": "Human", "refseq_name": "leiomodin-3", "refseq_ac": [ { "id": "NP_001291347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291347", "type": "external" } ], "gene_names_uniprotkb": "LMOD3", "gene_names_refseq": "LMOD3; NEM10", "protein_names_uniprotkb": "Leiomodin-3; Leiomodin, fetal form", "protein_names_refseq": "leiomodin 3 (fetal); leiomodin, fetal form; leiomodin-3", "tax_id": 9606, "disease": "nemaline myopathy 10 (Disease Ontology:DOID:0110931); nemaline myopathy (Disease Ontology:DOID:3191)", "pathway": " (hsa:56203)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "25250574;28815944;29331079;29557506;29923248;30291184;35580925;37217939;37938771", "class_list": "", "function": "Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574)., [UniProtKB, PubMed]; LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle. Erratum:[J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. PMID: 25654555], [RefSeq, PubMed]; LMOD3 is expressed in the brain and colocalized with major structures involved in the regulation of vigilance states. LMOD proteins are structural proteins and seem to be developmentally regulated. Erratum:[J Sleep Res. 2020 Jun;29(3):e12849. doi: 10.1111/jsr.12849. PMID: 32449287], [RefSeq, PubMed]; LMOD3 mutation is associated with congenital myopathy., [RefSeq, PubMed]; The LMOD3 gene encodes leiomodin 3, a member of the tropomodulin family of proteins, which is expressed in skeletal muscle from the early stages of differentiation and plays a role in actin thin-filament nucleation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]., [RefSeq]; We characterized the clinical features and the genetic status of 4 unrelated adolescent or adult patients with nemaline myopathy due to the missense variant c.1648C>T, p.(Leu550Phe) in the LMOD3 gene, either on both alleles or in trans with another missense variant (c.1004A>G, p.Gln335Arg)., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DT85;Q0JTT2;Q5JPG6;Q8IUK4;Q96LS4", "ec_number_list": [], "go_molecular_function": "GO:0003785 actin monomer binding;GO:0005523 tropomyosin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005865 striated muscle thin filament;GO:0031430 M band;GO:0030016 myofibril", "go_biological_process": "GO:0006936 muscle contraction;GO:0007015 actin filament organization;GO:0030240 skeletal muscle thin filament assembly;GO:0048741 skeletal muscle fiber development;GO:0006941 striated muscle contraction", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q0VAK6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14210-1", "uniprot_id": [ { "id": "LY6D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14210", "type": "external" } ], "mass": 13286.0, "length": 128, "protein_name": "Lymphocyte antigen 6D", "gene_name": "LY6D", "organism": "Human", "refseq_name": "lymphocyte antigen 6D precursor", "refseq_ac": [ { "id": "NP_003686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003686", "type": "external" } ], "gene_names_uniprotkb": "LY6D; E48", "gene_names_refseq": "E48; LY6D; Ly-6D", "protein_names_uniprotkb": "Lymphocyte antigen 6D; E48 antigen; Ly-6D", "protein_names_refseq": "e48 antigen; lymphocyte antigen 6 complex, locus D; lymphocyte antigen 6D precursor; lymphocyte antigen 6D", "tax_id": 9606, "disease": "", "pathway": " (hsa:8581); (R-HSA-163125)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11072085;15340161;2443973;27862975;29786170;30397120;30566873;31154438;33168631;34184566;3422494;35051231;38067506;7790363;9366413;9551972", "class_list": "", "function": "Investigation of Candidate Genes and Pathways in Basal/TNBC Patients by Integrated Analysis., [RefSeq, PubMed]; LY6D may serve as a prognostic maker for advanced prostate cancer., [RefSeq, PubMed]; LY6D-induced macropinocytosis as a survival mechanism of senescent cells., [RefSeq, PubMed]; May act as a specification marker at earliest stage specification of lymphocytes between B- and T-cell development. Marks the earliest stage of B-cell specification., [UniProtKB]; Silencing LY6D Expression Inhibits Colon Cancer in Xenograft Mice and Regulates Colon Cancer Stem Cells' Proliferation, Stemness, Invasion, and Apoptosis via the MAPK 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R5F1;D3DWJ0;O43783;Q6GTV9;Q8TBD4;Q92933", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0098552 side of membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0035634 response to stilbenoid;GO:0030098 lymphocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q14210-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SQ64-1", "uniprot_id": [ { "id": "LY66F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SQ64", "type": "external" } ], "mass": 32465.0, "length": 297, "protein_name": "Lymphocyte antigen 6 complex locus protein G6f", "gene_name": "LY6G6F", "organism": "Human", "refseq_name": "lymphocyte antigen 6 complex locus protein G6f isoform 1 precursor", "refseq_ac": [ { "id": "NP_001003693", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003693", "type": "external" } ], "gene_names_uniprotkb": "LY6G6F; C6orf21; G6F; LY6G6D; NG32", "gene_names_refseq": "C6orf21; G6f; LY6G6D; LY6G6F; LY6G6; NG32", "protein_names_uniprotkb": "Lymphocyte antigen 6 complex locus protein G6f", "protein_names_refseq": "lymphocyte antigen 6 complex locus protein G6f isoform 1 precursor; lymphocyte antigen 6 complex locus protein G6f; lymphocyte antigen 6 complex, locus G6D; lymphocyte antigen 6 complex, locus G6F", "tax_id": 9606, "disease": "", "pathway": " (hsa:259215); (R-HSA-114608)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "12852788;1435334;14630798;14656967;15297306;16263699;16941570;19851445;20587610;23640497;25548167;26154972;27862975;28228285;28832583;29557506;31154438;35051231;35580925;6457647;8467233", "class_list": "", "function": "G6f recruits adaptor signalling proteins Grb2 and Grb7., [RefSeq, PubMed]; May play a role in the downstream signal transduction pathways involving GRB2 and GRB7., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[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": 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": 1, "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": "B0UXB7;O95869;Q7Z5H2;Q96QC7;Q9NZJ1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031092 platelet alpha granule membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q5SQ64-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWZ2-1", "uniprot_id": [ { "id": "LYPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWZ2", "type": "external" } ], "mass": 26316.0, "length": 237, "protein_name": "Lysophospholipase-like protein 1", "gene_name": "LYPLAL1", "organism": "Human", "refseq_name": "lysophospholipase-like protein 1 isoform b", "refseq_ac": [ { "id": "NP_001287698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287698", "type": "external" } ], "gene_names_uniprotkb": "LYPLAL1", "gene_names_refseq": "LYPLAL1; Q96AV0", "protein_names_uniprotkb": "Lysophospholipase-like protein 1; 3.1.2.22", "protein_names_refseq": "lysophospholipase-like protein 1 isoform b; lysophospholipase-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:127018)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "19557161;20703240;21674055;22052940;22399288;22645359;23481700;24714562;25505266;25892735;26154972;26375851;26728094;26992070;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29769354;30315122;30410026;30429286;31217245;31844290;32157095;32387766;32983136;33123756;33633747;33717175;33912179;34171305;34932366;35051231;35318648;35580925;36284347;37676718;37802025", "class_list": "", "function": "Central obesity-associated variants in LYPLAL1, NRXN3, MSRA, and TFAP2B, [RefSeq, PubMed]; ELAVL4 promotes the tumorigenesis of small cell lung cancer by stabilizing LncRNA LYPLAL1-DT and enhancing profilin 2 activation., [RefSeq, PubMed]; LYPLAL1 exhibits neither phospholipase nor triacylglycerol lipase activity, but rather accepts short-chain substrates, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Palmitoyl thioesterase that catalyzes depalmitoylation of CGAS and KCNMA1 (PubMed:22052940, PubMed:22399288, PubMed:37802025). Acts as a regulator of innate immunity by mediating depalmitoylation of CGAS, thereby preventing CGAS homodimerization and cyclic GMP-AMP synthase activity (PubMed:37802025). Does not exhibit phospholipase nor triacylglycerol lipase activity, able to hydrolyze only short chain substrates due to its shallow active site (PubMed:22052940)., [UniProtKB, PubMed, PubMed, PubMed]; TFAP2B, LYPLAL1 and MSRA are associated with adiposity and fat distribution. GeneRIF: Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[PLoS Genet. 2009 Jul;5(7). doi: 10.1371/annotation/b6e8f9f6-2496-4a40-b0e3-e1d1390c1928], [RefSeq, PubMed]; Targeting LYPLAL1-mediated cGAS depalmitoylation enhances the response to anti-tumor immunotherapy., [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": 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": "A8K677;Q5VWZ3;Q7Z4A3;Q96AV0", "ec_number_list": [ { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.1.1.93", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.93", "type": "external" } ], "go_molecular_function": "GO:0016788 hydrolase activity, acting on ester bonds;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0008474 palmitoyl-(protein) hydrolase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0042997 negative regulation of Golgi to plasma membrane protein transport;GO:0160049 negative regulation of cGAS/STING signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q5VWZ2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWN0-1", "uniprot_id": [ { "id": "LYPD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWN0", "type": "external" } ], "mass": 26763.0, "length": 246, "protein_name": "Ly6/PLAUR domain-containing protein 4", "gene_name": "LYPD4", "organism": "Human", "refseq_name": "ly6/PLAUR domain-containing protein 4 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001278348", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278348", "type": "external" } ], "gene_names_uniprotkb": "LYPD4; PRO6181", "gene_names_refseq": "LYPD4; SMR", "protein_names_uniprotkb": "Ly6/PLAUR domain-containing protein 4", "protein_names_refseq": "ly6/PLAUR domain-containing protein 4 isoform 2 precursor; ly6/PLAUR domain-containing protein 4; sperm membrane receptor; testicular tissue protein Li 159", "tax_id": 9606, "disease": "", "pathway": " (hsa:147719); (R-HSA-163125)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "11072085;12975309;2443973;3422494", "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": 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": "Q8IYW0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0044853 plasma membrane raft;GO:0001669 acrosomal vesicle;GO:0098552 side of membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6UWN0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXB3-1", "uniprot_id": [ { "id": "LYPD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXB3", "type": "external" } ], "mass": 13115.0, "length": 125, "protein_name": "Ly6/PLAUR domain-containing protein 2", "gene_name": "LYPD2", "organism": "Human", "refseq_name": "ly6/PLAUR domain-containing protein 2 precursor", "refseq_ac": [ { "id": "NP_991108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_991108", "type": "external" } ], "gene_names_uniprotkb": "LYPD2; LYPDC2; PRO788", "gene_names_refseq": "LYPD2; LYPDC2; UNQ430", "protein_names_uniprotkb": "Ly6/PLAUR domain-containing protein 2", "protein_names_refseq": "RGTR430; ly6/PLAUR domain-containing protein 2 precursor; ly6/PLAUR domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:137797); (R-HSA-163125)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "11072085;12975309;2443973;3422494;35580925", "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": 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": "A8K2R6;Q0VD64;Q0VF31", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6UXB3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q71F78-1", "uniprot_id": [ { "id": "LCA10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q71F78", "type": "external" } ], "mass": 17306.0, "length": 164, "protein_name": "Putative lung carcinoma-associated protein 10", "gene_name": "LCA10", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LCA10", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative lung carcinoma-associated protein 10", "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q71F78-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9P8-1", "uniprot_id": [ { "id": "L2HDH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9P8", "type": "external" } ], "mass": 50316.0, "length": 463, "protein_name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial", "gene_name": "L2HGDH", "organism": "Human", "refseq_name": "L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_079160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079160", "type": "external" } ], "gene_names_uniprotkb": "L2HGDH; C14orf160", "gene_names_refseq": "C14orf160; L2HGA; L2HGDH", "protein_names_uniprotkb": "L-2-hydroxyglutarate dehydrogenase, mitochondrial; 1.1.99.2; Duranin", "protein_names_refseq": "2-hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; duranin", "tax_id": 9606, "disease": "2-hydroxyglutaric aciduria (Disease Ontology:DOID:0050573); L-2-hydroxyglutaric aciduria (Disease Ontology:DOID:0050574); cerebellar ataxia (Disease Ontology:DOID:0050753); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:79944); (R-HSA-880009)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11237011;15070399;15385440;15548604;16005139;16134148;16435184;19608861;25892735;28228285;28510447;28649982;28904123;29557506;29769354;30217188;3182820;31844290;32101699;32357974;32938616;33141586;33912179;34087483;34357683;35051231;35561310;36010968;37378753;40914422;7564244", "class_list": "", "function": "Catalyzes the oxidation of L-2-hydroxyglutarate to 2-oxoglutarate (alpha-ketoglutarate)., [UniProtKB, PubMed]; Encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases; a mutant gene is accociated with L-2-hydroxyglutaric aciduria.propose to name the gene duranin, [RefSeq, PubMed]; Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria., [RefSeq, PubMed]; MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome., [RefSeq, PubMed]; This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]., [RefSeq]; Two novel L2HGDH mutations were identified in a Chinese family with L-2-hydroxyglutaric aciduria. 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": 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": "Q9BRR1", "ec_number_list": [ { "id": "1.1.99.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.99.2", "type": "external" } ], "go_molecular_function": "GO:0047545 (S)-2-hydroxyglutarate dehydrogenase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0006103 2-oxoglutarate metabolic process;GO:0044281 small molecule metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9H9P8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHA4-1", "uniprot_id": [ { "id": "LTOR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHA4", "type": "external" } ], "mass": 13623.0, "length": 124, "protein_name": "Ragulator complex protein LAMTOR3", "gene_name": "LAMTOR3", "organism": "Human", "refseq_name": "ragulator complex protein LAMTOR3 isoform 2", "refseq_ac": [ { "id": "NP_001230665", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230665", "type": "external" } ], "gene_names_uniprotkb": "LAMTOR3; MAP2K1IP1; MAPKSP1; PRO2783", "gene_names_refseq": "LAMTOR3; MAP2K1IP1; MAPBP; MAPKSP1; MP1; PRO0633; Ragulator3", "protein_names_uniprotkb": "Ragulator complex protein LAMTOR3; Late endosomal/lysosomal adaptor and MAPK and MTOR activator 3; MEK-binding partner 1; Mitogen-activated protein kinase kinase 1-interacting protein 1; Mitogen-activated protein kinase scaffold protein 1; Mp1", "protein_names_refseq": "MAPK scaffold protein 1; MEK binding partner 1; late endosomal/lysosomal adaptor and MAPK and MTOR activator 3; mitogen-activated protein kinase kinase 1 interacting protein 1; mitogen-activated protein kinase scaffold protein 1; ragulator complex protein LAMTOR3 isoform 2; ragulator complex protein LAMTOR3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8649); (R-HSA-1632852); (R-HSA-165159); (R-HSA-166208); (R-HSA-380972); (R-HSA-5628897); (R-HSA-5674135); (R-HSA-6798695); (R-HSA-8943724); (R-HSA-9639288)", "pathway_count": 10, "publication_count": 310, "publication_id_list": "10209122;10329961;10409742;10654941;10716435;10725339;10745013;10891492;10980602;11018120;11029283;11034341;11096062;11340051;11378386;11486029;11545734;11781575;11802164;11802165;11825910;11959846;12150926;12151408;12161445;12203114;12438239;12453409;12473660;12479806;12524439;12714747;12742462;12805220;12832465;12869586;12906785;13298683;13538944;14511394;14517248;14614828;14636584;14651849;14970219;14985505;15016825;15105503;15118098;15187094;15223;15239952;15260967;15314020;15520807;15543157;15547943;15579580;15589136;15755954;15809305;15854902;15878852;16098514;16135787;16140933;16413492;16418168;16636147;16676006;16702404;16728594;16760263;16839880;16879721;16943194;16963840;1715244;17178906;17277771;17298220;17386266;17470430;17486094;17496912;17510057;17517883;17540029;17563371;17618624;17873065;17974977;18172008;18198340;18321988;18344994;18372248;18391013;18439900;18487508;18497260;18507432;18604198;18692468;19091303;19113821;19211835;19219045;19242111;19279408;19322194;19439913;19440552;19487573;19590496;19822145;19855179;19884659;19898463;20059746;20080666;20182617;20233713;20351271;20378837;20381137;20516213;20713597;20858867;20921139;21177865;21205641;21258367;21289308;21383122;21460621;21602892;21750704;21779496;21819378;21958598;22053050;22128185;22170151;22177953;22363791;22569528;22575674;22682742;22980980;23202584;23287862;23481700;23614898;23650620;23667175;23685627;23723238;23727157;23775793;23884233;23934108;24066844;24081491;24095279;24366874;24383451;24715725;24718924;24746704;24747438;24937142;24954904;25195011;25259925;25263562;25313996;25418920;25435214;25457612;25469497;25484072;25548167;25561175;25567906;25568151;25576301;25579166;25728608;25819761;25961827;25963655;26154972;26449471;26586190;26652033;26811146;26910647;26929215;26972053;26992070;27227380;27308486;27487210;27648300;27846572;27920218;28063628;28066558;28199306;28199315;28218747;28228285;28467828;28860189;28904123;28935770;28939558;29053970;29056322;29107538;29123071;29123114;29158492;29236692;29242379;29285400;29314611;29393594;29467321;29557506;29632046;29632711;29786170;30034615;30061680;30181260;30192525;30315122;30429286;30573663;30651352;30794926;31154438;31217245;31530632;31601708;31672913;31704029;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32868926;3287375;32938616;32983136;33043033;33141586;33592498;33691108;33717175;33912179;33936100;34087483;34171305;34357683;34433824;34509645;34932366;35051231;35058442;35154160;35251023;35338845;36082464;36103527;36215666;36241641;36284347;36697823;37938771;5666113;7499430;7565670;7565795;7628435;7731720;7929275;7935411;7979252;7989588;8051079;8119488;8157000;8549768;8692836;8779952;9020159;9721431;9733512;9858547;9926927", "class_list": "", "function": "As part of the Ragulator complex it is involved in amino acid sensing and activation of mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels, and amino acids (PubMed:20381137, PubMed:22980980, PubMed:28935770, PubMed:29107538, PubMed:29123114, PubMed:29158492, PubMed:30181260). Activated by amino acids through a mechanism involving the lysosomal V-ATPase, the Ragulator plays a dual role for the small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD): it (1) acts as a guanine nucleotide exchange factor (GEF), activating the small GTPases Rag and (2) mediates recruitment of Rag GTPases to the lysosome membrane (PubMed:22053050, PubMed:22980980, PubMed:28935770, PubMed:29107538, PubMed:29123114, PubMed:29158492, PubMed:30181260). Activated Ragulator and Rag GTPases function as a scaffold recruiting mTORC1 to lysosomes where it is in turn activated (PubMed:22980980, PubMed:28935770, PubMed:29107538, PubMed:29123114, PubMed:29158492, PubMed:30181260). Adapter protein that enhances the efficiency of the MAP kinase cascade facilitating the activation of MAPK2 (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LAMTOR3 is a prognostic biomarker in kidney renal clear cell carcinoma., [RefSeq, PubMed]; This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [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": 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": "B2R4A1;J3KMX4;Q9H364", "ec_number_list": [], "go_molecular_function": "GO:0019209 kinase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0035579 specific granule membrane;GO:0070062 extracellular exosome;GO:0070821 tertiary granule membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0032008 positive regulation of TOR signaling;GO:0008104 intracellular protein localization;GO:0038202 TORC1 signaling;GO:0071230 cellular response to amino acid stimulus", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "Q9UHA4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6C7-1", "uniprot_id": [ { "id": "L3R2A_HUMAN", "url": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 0, "reported_glycation": 0, "reported_snv": 473, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 54.5, "record_id": "P04433-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP09-1", "uniprot_id": [ { "id": "KV113_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP09", "type": "external" } ], "mass": 12569.0, "length": 117, "protein_name": "Immunoglobulin kappa variable 1-13", "gene_name": "IGKV1-13", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV1-13", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 1-13", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11549845;17576170;20176268;22158414;24600447;6086934", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0.7, "record_id": "P0DP09-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23919-1", "uniprot_id": [ { "id": "KTHY_HUMAN", "url": "https://www.uniprot.org/uniprot/P23919", "type": "external" } ], "mass": 23819.0, "length": 212, "protein_name": "Thymidylate kinase", "gene_name": "DTYMK", "organism": "Human", "refseq_name": "thymidylate kinase isoform 2", "refseq_ac": [ { "id": "NP_001158503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158503", "type": "external" } ], "gene_names_uniprotkb": "DTYMK; CDC8; TMPK; TYMK", "gene_names_refseq": "CDC8; CONPM; DTYMK; PP3731; TMPK; TYMK", "protein_names_uniprotkb": "Thymidylate kinase; 2.7.4.9; dTMP kinase", "protein_names_refseq": "dTMP kinase; deoxythymidylate kinase (thymidylate kinase); thymidylate kinase isoform 2", "tax_id": 9606, "disease": "meningococcal meningitis (Disease Ontology:DOID:0080176); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); acute necrotizing pancreatitis (Disease Ontology:DOID:0080998); pre-eclampsia (Disease Ontology:DOID:10591); age related macular degeneration (Disease Ontology:DOID:10871); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); multiple sclerosis (Disease Ontology:DOID:2377); thrombophilia (Disease Ontology:DOID:2452); contact dermatitis (Disease Ontology:DOID:2773); breast carcinoma (Disease Ontology:DOID:3459); renal cell carcinoma (Disease Ontology:DOID:4450); cervix uteri carcinoma in situ (Disease Ontology:DOID:8991); systemic lupus erythematosus (Disease Ontology:DOID:9074); viral infectious disease (Disease Ontology:DOID:934); bacterial meningitis (Disease Ontology:DOID:9470); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952); neurodegeneration, childhood-onset, with progressive microcephaly (MONDO:MONDO:0859241)", "pathway": " (hsa:1841); (R-HSA-499943)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12614151;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19608861;19766732;2017365;21080915;211388;211390;22847445;23416111;23481700;2542324;25880248;2656695;2668278;26992070;28510447;28904123;31271740;31844290;31887566;32157095;32350084;32357974;32387766;33214551;33298915;33691108;33936100;33968037;34019948;34509645;34918187;35051231;36010968;37358701;38665916;40615;5484814;6182143;6248551;7685356;7851394;8024690;8448179;8663313;9488696;9677297", "class_list": "", "function": "Catalyzes the phosphorylation of thymidine monophosphate (dTMP) to thymidine diphosphate (dTDP), the immediate precursor for the DNA building block dTTP, with ATP as the preferred phosphoryl donor in the presence of Mg(2+)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; DTYMK is a novel gene for mitochondrial DNA depletion syndrome, [RefSeq, PubMed]; DTYMK is essential for genome integrity and neuronal survival., [RefSeq, PubMed]; Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment., [RefSeq, PubMed]; The evolving landscape of involvement of DTYMK enzymes in cancer. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 18, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZW70;Q6FGX1;Q9BUX4", "ec_number_list": [ { "id": "2.7.4.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.9", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004798 dTMP kinase activity;GO:0004550 nucleoside diphosphate kinase activity;GO:0016301 kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0046105 thymidine biosynthetic process;GO:0006233 dTDP biosynthetic process;GO:0006227 dUDP biosynthetic process;GO:0006235 dTTP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P23919-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4C8-1", "uniprot_id": [ { "id": "RBM19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4C8", "type": "external" } ], "mass": 107332.0, "length": 960, "protein_name": "Probable RNA-binding protein 19", "gene_name": "RBM19", "organism": "Human", "refseq_name": "probable RNA-binding protein 19", "refseq_ac": [ { "id": "NP_001140170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001140170", "type": "external" } ], "gene_names_uniprotkb": "RBM19; KIAA0682", "gene_names_refseq": "Mrd1; RBM19", "protein_names_uniprotkb": "Probable RNA-binding protein 19; RNA-binding motif protein 19", "protein_names_refseq": "probable RNA-binding protein 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:9904)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;12429849;12874115;16027046;17081983;18452278;18669648;20068231;21406692;22645359;23301498;23481700;24397554;24714562;24715725;25418920;25576301;25880248;25892735;26154972;26375851;26728094;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29769354;29786170;30192525;30410026;30429286;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34509645;34561969;34932366;35051231;35154160;35494241;35580925;36010968;36215666;36581221;40914422", "class_list": "", "function": "Plays a role in embryo pre-implantation development., [UniProtKB]; Primarily a zebrafish paper but shows an alignment of human RBM19, [RefSeq, PubMed]; This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "A8K5X9;Q9BPY6;Q9UFN5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0016607 nuclear speck", "go_biological_process": "GO:0040019 positive regulation of embryonic development;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q9Y4C8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14949-1", "uniprot_id": [ { "id": "QCR8_HUMAN", "url": "https://www.uniprot.org/uniprot/O14949", "type": "external" } ], "mass": 9906.0, "length": 82, "protein_name": "Cytochrome b-c1 complex subunit 8", "gene_name": "UQCRQ", "organism": "Human", "refseq_name": "cytochrome b-c1 complex subunit 8", "refseq_ac": [ { "id": "NP_055217", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055217", "type": "external" } ], "gene_names_uniprotkb": "UQCRQ", "gene_names_refseq": "MC3DN4; QCR8; QP-C; QPC; UQCR7; UQCRQ", "protein_names_uniprotkb": "Cytochrome b-c1 complex subunit 8; Complex III subunit 8; Complex III subunit VIII; Ubiquinol-cytochrome c reductase complex 9.5 kDa protein; Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C", "protein_names_refseq": "complex III subunit 8; complex III subunit VIII; cytochrome b-c1 complex subunit 8; low molecular mass ubiquinone-binding protein (9.5kD); ubiquinol-cytochrome c reductase complex 9.5 kDa protein; ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C; ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa", "tax_id": 9606, "disease": "mitochondrial complex III deficiency nuclear type 4 (Disease Ontology:DOID:0080113)", "pathway": " (hsa:27089); (R-HSA-611105); (R-HSA-9837999); (R-HSA-9865881)", "pathway_count": 4, "publication_count": 137, "publication_id_list": "10327278;11695836;11923310;12198491;12231006;12837546;1327877;14623864;14741580;15250827;15522782;15870080;16115876;16230336;17033964;17101804;17297443;17579211;18439546;186667;18991276;19841671;20877624;21278747;22262461;22710082;23150584;23168492;23186163;23201127;23270816;23564345;23747254;23931759;239860;24315374;24385928;24520911;24715725;25008109;25418920;25469497;25564869;25576301;25605331;25645385;25950827;26154972;26375851;26504172;26811146;26923599;26992070;27397612;27496948;27600516;27642048;27846572;27920218;28063628;28228285;28377575;28380382;28396416;28510447;28673544;28832583;28834231;28844695;28904123;29242379;29243944;29301859;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29932645;30120231;30315122;30410026;30429286;30484775;30833945;31327635;31530632;31611695;31695197;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32929120;32938616;32983136;33257573;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34561969;34704252;34932366;34943861;34969438;35051231;35251023;35580925;35870450;35877019;36010968;36215666;36241641;36284347;36629048;37938771;4288886;7623837;8592474;9878551", "class_list": "", "function": "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, UniProtKB]; Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; QP-C protein gene expression involved in the development of hyperpigmentation., [RefSeq, PubMed]; This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]., [RefSeq]; We thus suggest that a homozygous mutation in UQCRQ is associated with defective function of mitochondrial complex III, leading to a severe autosomal-recessive neurological 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5FVE2;Q9BV88;Q9T2V7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045275 respiratory chain complex III", "go_biological_process": "GO:0021766 hippocampus development;GO:0021680 cerebellar Purkinje cell layer development;GO:0021860 pyramidal neuron development;GO:0021854 hypothalamus development;GO:0021539 subthalamus development", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "O14949-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75452-1", "uniprot_id": [ { "id": "RDH16_HUMAN", "url": "https://www.uniprot.org/uniprot/O75452", "type": "external" } ], "mass": 35673.0, "length": 317, "protein_name": "Retinol dehydrogenase 16", "gene_name": "RDH16", "organism": "Human", "refseq_name": "retinol dehydrogenase 16 isoform 1", "refseq_ac": [ { "id": "NP_003699", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003699", "type": "external" } ], "gene_names_uniprotkb": "RDH16; RODH4; SDR9C8", "gene_names_refseq": "RDH16; RODH-4; RODH4; SDR9C8; hRDH-E", "protein_names_uniprotkb": "Retinol dehydrogenase 16; 1.1.1.105; 1.1.1.209; 1.1.1.315; 1.1.1.53; Human epidermal retinol dehydrogenase; Microsomal NAD(+)-dependent retinol dehydrogenase 4; RoDH-4; Short chain dehydrogenase/reductase family 9C member 8; Sterol/retinol dehydrogenase; hRDH-E", "protein_names_refseq": "human epidermal retinol dehydrogenase; microsomal NAD+-dependent retinol dehydrogenase 4; retinol dehydrogenase 16 (all-trans and 13-cis); retinol dehydrogenase 16 (all-trans); retinol dehydrogenase 16 isoform 1; short chain dehydrogenase/reductase family 9C, member 8; sterol/retinol dehydrogenase", "tax_id": 9606, "disease": "", "pathway": " (hsa:8608); (R-HSA-2453902); (R-HSA-5365859)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10075733;10329026;10369264;10617778;10753906;10839978;11007799;11123914;11245473;11274389;11967490;12036956;12177057;12226107;12407145;12534290;12680773;14532297;14596915;15314061;15471866;15865448;17255476;18039331;18805086;1889753;19027726;19049981;1925597;19309693;20192770;20801113;21493626;21529158;21621639;21774515;21851338;22019272;22665496;2303470;23220587;24715725;2542268;28394339;2935875;29541409;29557506;3013304;31154438;3170584;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8493914;8884265;9228021;9490294;9541407;9677409;9703434;9705317;9920938", "class_list": "", "function": "Characterization of the retinol dehydrogenase activity of RoDH-4 identifies it as the enzyme capable of accessing the bound form of retinol for retinoic acid production., [RefSeq, PubMed]; In endometrial cancers, hRoDH-4 immunoreactivity was markedly reduced., [RefSeq, PubMed]; Oxidoreductase with a preference for NAD. Oxidizes all-trans-retinol, 9-cis-retinol, 11-cis-retinol and 13-cis-retinol to the corresponding aldehydes (PubMed:10329026, PubMed:12534290, PubMed:9677409). Has higher activity towards CRBP-bound retinol than with free retinol (PubMed:12534290). Also oxidizes 3-alpha-hydroxysteroids. Oxidizes androstanediol and androsterone to dihydrotestosterone and androstanedione. Can also catalyze the reverse reaction (PubMed:10329026, PubMed:29541409, PubMed:9677409)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; RDH16 is a stemness suppressor that partially rescues stem cell-like glioma cells from the NSPc1-induced increase in neurosphere formation., [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": 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": "Q9UNV2", "ec_number_list": [ { "id": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "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": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.225", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.51", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.1", "type": "external" }, { "id": "1.1.1.66", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.66", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.112", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.112", "type": "external" }, { "id": "1.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.20", "type": "external" }, { "id": "1.1.1.270", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.270", "type": "external" }, { "id": "1.1.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.149", "type": "external" }, { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0042802 identical protein binding;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0047023 androsterone dehydrogenase [NAD(P)+] activity;GO:0047044 androstan-3-alpha,17-beta-diol dehydrogenase (NAD+) activity", "go_cellular_component": "GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0042572 retinol metabolic process;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O75452-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95294-1", "uniprot_id": [ { "id": "RASL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95294", "type": "external" } ], "mass": 90016.0, "length": 804, "protein_name": "RasGAP-activating-like protein 1", "gene_name": "RASAL1", "organism": "Human", "refseq_name": "rasGAP-activating-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001180449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180449", "type": "external" } ], "gene_names_uniprotkb": "RASAL1; RASAL", "gene_names_refseq": "RASAL1; RASAL", "protein_names_uniprotkb": "RasGAP-activating-like protein 1; RAS protein activator like 1; Ras GTPase-activating-like protein", "protein_names_refseq": "GAP1 like protein; ras GTPase-activating-like protein; rasGAP-activating-like protein 1 isoform 1; rasGAP-activating-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:8437); (R-HSA-5658442)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "11230166;11493923;12221082;12600938;12646235;12787671;15683364;1570011;16009725;16478641;17640920;18992247;19573811;2121370;22751498;22802525;23443682;23661552;23999003;24814062;26992070;27124111;27878301;28011578;28834231;28885980;29242379;29314611;31154438;35051231;39118077;39894887;8563751;9219684;9302992;9751798", "class_list": "", "function": "DNA methylation, TGFbeta1 and RASAL1 appear to have an interacting relationship. Publication Status: Online-Only, [RefSeq, PubMed]; Decreased expression of the RAS-GTPase activating protein RASAL1 is associated with colorectal tumor progression., [RefSeq, PubMed]; Domain topology of human Rasal, [RefSeq, PubMed]; Galpha and Gbeta gamma require distinct Src-dependent pathways for its activation, [RefSeq, PubMed]; Hypermethylated RASAL1's promotive role in chemoresistance and tumorigenesis of choriocarcinoma was regulated by TET2 but not DNMTs. Publication Status: Online-Only, [RefSeq, PubMed]; Our study showed significantly longer overall survival times for oesophagogastric adenocarcinoma patients without RASAL1 expression, [RefSeq, PubMed]; Probable inhibitory regulator of the Ras-cyclic AMP pathway (PubMed:9751798). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, PubMed, PubMed]; RASAL constitutes a tumor suppressor gene and therefore further emphasized the importance of Ca(2+) in the regulation of Ras signaling and has established that deregulation of this pathway is an important step in Ras-mediated tumorigenesis, [RefSeq, PubMed]; RASAL preservs of Ca2+ frequency information, [RefSeq, PubMed]; RASAL1 role in in sorafenib-resistance of liver cancer cells, [RefSeq, PubMed]; The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 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": 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": "B7ZKM4;C9JFK5;F8VQX1;Q52M03;Q59H24;Q96CC7", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0046580 negative regulation of Ras protein signal transduction;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "O95294-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJD4-1", "uniprot_id": [ { "id": "RBY1C_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJD4", "type": "external" } ], "mass": 55784.0, "length": 496, "protein_name": "RNA-binding motif protein, Y chromosome, family 1 member C", "gene_name": "RBMY1C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RBMY1C", "gene_names_refseq": "", "protein_names_uniprotkb": "RNA-binding motif protein, Y chromosome, family 1 member C", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "10332027;10749975;15595951;9108067;9598316", "class_list": "", "function": "RNA-binding protein involved in pre-mRNA splicing. Required for sperm development. Acts additively with TRA2B to promote exon 7 inclusion of the survival motor neuron SMN. Binds non-specifically to mRNAs., [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": "Q15376;Q15377;Q15414;Q6NSB5;Q86VU6;Q8NHR0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005681 spliceosomal complex;GO:0032991 protein-containing complex", "go_biological_process": "GO:0043484 regulation of RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0DJD4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10745-1", "uniprot_id": [ { "id": "RET3_HUMAN", "url": "https://www.uniprot.org/uniprot/P10745", "type": "external" } ], "mass": 135363.0, "length": 1247, "protein_name": "Retinol-binding protein 3", "gene_name": "RBP3", "organism": "Human", "refseq_name": "retinol-binding protein 3 precursor", "refseq_ac": [ { "id": "NP_002891", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002891", "type": "external" } ], "gene_names_uniprotkb": "RBP3", "gene_names_refseq": "D10S64; D10S65; D10S66; IRBP; RBP3; RBPI; RP66", "protein_names_uniprotkb": "Retinol-binding protein 3; IRBP; Interphotoreceptor retinoid-binding protein; Interstitial retinol-binding protein", "protein_names_refseq": "interphotoreceptor retinoid-binding protein; interstitial retinol binding protein 3; retinol binding protein 3, interstitial; retinol-binding protein 3 precursor", "tax_id": 9606, "disease": "retinitis pigmentosa 66 (Disease Ontology:DOID:0110393)", "pathway": " (hsa:5949); (R-HSA-2187335); (R-HSA-2453902)", "pathway_count": 3, "publication_count": 82, "publication_id_list": "10075733;10617778;10634611;10753906;11123914;11274389;12036956;12177057;12367507;12407145;15314061;15471866;15865448;15969447;16034128;16106050;16125173;16128572;1692781;16959974;17255476;17286855;1742276;19049981;19074801;1925597;19309693;19781940;19815288;19846785;20192770;21493626;21697133;21774515;22665496;2303470;23143414;23481700;23486466;23905688;2402443;24799687;2542268;2792773;28096191;28904123;2937147;29393594;29557506;29789417;30779550;31270273;3170584;31844290;32157095;32938616;33392160;3455009;3485310;35051231;35580925;35852358;36901838;3743780;37806543;3827838;4772407;5315589;6288450;6342691;6512705;6589631;6679757;7706044;7929238;8105993;8884265;9490294;9541407;9703434;9705317;9920938", "class_list": "", "function": "Elevated Retinol Binding Protein 3 Concentrations Are Associated With Decreased Vitreous Inflammatory Cytokines, VEGF, and Progression of Diabetic Retinopathy., [RefSeq, PubMed]; Elevated expression of photoreceptor-secreted RBP3 may have a role in protection against the progression of diabetic retinopathy., [RefSeq, PubMed]; Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]., [RefSeq]; Mediates the transport of 11-cis- and all-trans-retinoids between the retinal pigment epithelium (RPE) and photoreceptors, facilitating retinoid exchange required for the visual cycle., [UniProtKB, UniProtKB]; RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping., [RefSeq, PubMed]; Towards a New Biomarker for Diabetic Retinopathy: Exploring RBP3 Structure and Retinoids Binding for Functional Imaging of Eyes In Vivo. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 53, "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": "Q0QD34;Q5VSR0;Q8IXN0", "ec_number_list": [], "go_molecular_function": "GO:0019841 retinol binding;GO:0016918 retinal binding;GO:0005501 retinoid binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:1903561 extracellular vesicle;GO:0090658 cone matrix sheath", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0006508 proteolysis;GO:0006629 lipid metabolic process;GO:0007601 visual perception", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P10745-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10826-1", "uniprot_id": [ { "id": "RARB_HUMAN", "url": "https://www.uniprot.org/uniprot/P10826", "type": "external" } ], "mass": 50489.0, "length": 455, "protein_name": "Retinoic acid receptor beta", "gene_name": "RARB", "organism": "Human", "refseq_name": "retinoic acid receptor beta isoform 1", "refseq_ac": [ { "id": "NP_000956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000956", "type": "external" } ], "gene_names_uniprotkb": "RARB; HAP; NR1B2", "gene_names_refseq": "HAP; MCOPS12; NR1B2; RARB; RARbeta1; RARbeta; RRB2", "protein_names_uniprotkb": "Retinoic acid receptor beta; HBV-activated protein; Nuclear receptor subfamily 1 group B member 2; RAR-beta; RAR-epsilon", "protein_names_refseq": "HBV-activated protein; RAR-beta; RAR-epsilon; hepatitis B virus activated protein; nuclear receptor subfamily 1 group B member 2; retinoic acid receptor beta isoform 1; retinoic acid receptor, beta polypeptide", "tax_id": 9606, "disease": "syndromic microphthalmia 12 (Disease Ontology:DOID:0111800); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); lung small cell carcinoma (Disease Ontology:DOID:5409); asbestos-related lung carcinoma (Disease Ontology:DOID:7596)", "pathway": " (hsa:5915); (R-HSA-383280); (R-HSA-5362517); (R-HSA-5617472)", "pathway_count": 4, "publication_count": 95, "publication_id_list": "10235266;10411930;10493790;10542397;10777502;11237011;11865025;11909957;12118004;12554770;1321662;15175151;15866176;15867264;15896744;16079151;16288117;16362076;16549775;1663808;16751179;16959974;17185360;17428788;1756725;17660710;17713478;17761849;17851529;18542081;18781158;19115252;19144697;19232136;19747919;1975088;19782034;19850744;19854132;20042001;20085832;20215566;21504868;2170809;21998312;22569366;22705304;22871568;22879880;23219899;23534758;23630040;23991366;24075189;24174538;24275569;24312487;24586203;25101834;25135475;25576301;25645385;2570724;25913784;26811146;27120018;28167758;28228285;2825037;2833708;2836738;28832583;29021580;29351928;3014347;31844290;32265295;32357974;33537174;35494241;36215666;7488013;7501971;7704533;7831296;7906964;7908827;8275470;8383553;8674428;8759021;9218805;9272954;9482740;9653119", "class_list": "", "function": "Downstream codons in mRNAs initiate translation of a protein isoform that disrupts retinoid-activated transcription, [RefSeq, PubMed]; In H358 lung cancer cells transiently transfected with RARbeta1', RA treatment restored target gene expression compared with that in vector-transfected cells and suppressed cell growth compared with that in untreated cells., [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 RXR/RAR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In the absence or presence of hormone ligand, acts mainly as an activator of gene expression due to weak binding to corepressors (PubMed:12554770). The RXRA/RARB heterodimer can act as a repressor on the DR1 element and as an activator on the DR5 element (PubMed:29021580). In concert with RARG, required for skeletal growth, matrix homeostasis and growth plate function (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [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": 1, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P12891;Q00989;Q15298;Q9UN48", "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:0004879 nuclear receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin;GO:0090575 RNA polymerase II transcription regulator complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P10826-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P29558-1", "uniprot_id": [ { "id": "RBMS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P29558", "type": "external" } ], "mass": 44505.0, "length": 406, "protein_name": "RNA-binding motif, single-stranded-interacting protein 1", "gene_name": "RBMS1", "organism": "Human", "refseq_name": "RNA-binding motif, single-stranded-interacting protein 1 isoform c", "refseq_ac": [ { "id": "NP_002888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002888", "type": "external" } ], "gene_names_uniprotkb": "RBMS1; C2orf12; MSSP1; MSSP; SCR2", "gene_names_refseq": "C2orf12; HCC-4; MSSP-1; MSSP-2; MSSP-3; MSSP; RBMS1; SCR2; YC1", "protein_names_uniprotkb": "RNA-binding motif, single-stranded-interacting protein 1; Single-stranded DNA-binding protein MSSP-1; Suppressor of CDC2 with RNA-binding motif 2", "protein_names_refseq": "RNA-binding motif, single-stranded-interacting protein 1 isoform c; c-myc gene single strand binding protein 2; cervical cancer oncogene 4; single-stranded DNA-binding protein MSSP-1; suppressor of CDC2 with RNA-binding motif 2; suppressor of cdc 2 (cdc13) with RNA binding motif 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5937)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;17322306;18669648;19413330;20068231;22121020;25576301;26154972;26992070;27397612;27846572;27862975;28832583;28834231;29242379;29485866;29493099;29557506;29632711;29786170;31844290;32157095;32387766;32488085;32938616;32983136;33214551;33592498;33968037;33999211;34019948;34609966;35051231;35068339;35138101;35580925;36058090;36284347;37938771;38342601;38665916;7838710;8041632;8134115", "class_list": "", "function": "Circular RNA Rbms1 inhibited the development of myocardial ischemia reperfusion injury by regulating miR-92a/BCL2L11 signaling pathway., [RefSeq, PubMed]; Hinge like domain motion facilitates human RBMS1 protein binding to proto-oncogene c-myc promoter., [RefSeq, PubMed]; Polymorphisms in risk genes of type 2 diabetes mellitus could be also markers of susceptibility to periodontitis., [RefSeq, PubMed]; RBMS1 Coordinates with the m[6]A Reader YTHDF1 to Promote NSCLC Metastasis through Stimulating S100P Translation., [RefSeq, PubMed]; RBMS1 regulates lung cancer ferroptosis through translational control of SLC7A11., [RefSeq, PubMed]; Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNA replication., [UniProtKB]; This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have been described. A pseudogene for this locus is found on chromosome 12. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q14869;Q15433;Q53P46;Q53QX8;Q53RG6;Q8WV20", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003690 double-stranded DNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0003697 single-stranded DNA binding;GO:0008143 poly(A) binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006396 RNA processing;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "P29558-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6BDI9-1", "uniprot_id": [ { "id": "REP15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6BDI9", "type": "external" } ], "mass": 26571.0, "length": 236, "protein_name": "Rab15 effector protein", "gene_name": "REP15", "organism": "Human", "refseq_name": "rab15 effector protein", "refseq_ac": [ { "id": "NP_001025045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025045", "type": "external" } ], "gene_names_uniprotkb": "REP15", "gene_names_refseq": "RAB15EP; REP15", "protein_names_uniprotkb": "Rab15 effector protein", "protein_names_refseq": "rab15 effector protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:387849)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "16195351;30379171;35871249", "class_list": "", "function": "Effector that interacts with Rab GTPases in their active form (GTP-bound) including RAB15, RAB3A-D and RAB34. Controls downstream signaling such as cell proliferation and cell migration (PubMed:35871249). Also regulates transferrin receptor recycling from the endocytic recycling compartment (PubMed:16195351, PubMed:35871249)., [UniProtKB, PubMed, PubMed]; The protein encoded by this intronless gene interacts with GTP-bound Rab15 and is involved in recycling of transferrin receptor from the endocytic recycling compartment to the cell surface. [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": 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": 9, "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": "B2RU16", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0048471 perinuclear region of cytoplasm;GO:0055037 recycling endosome;GO:0031901 early endosome membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0001881 receptor recycling;GO:0033572 transferrin transport", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6BDI9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3Y7-1", "uniprot_id": [ { "id": "RDHE2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3Y7", "type": "external" } ], "mass": 34095.0, "length": 309, "protein_name": "Epidermal retinol dehydrogenase 2", "gene_name": "SDR16C5", "organism": "Human", "refseq_name": "epidermal retinol dehydrogenase 2 isoform 1", "refseq_ac": [ { "id": "NP_001304978", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304978", "type": "external" } ], "gene_names_uniprotkb": "SDR16C5; RDHE2", "gene_names_refseq": "EPHD-2; RDH#2; RDH-E2; RDHE2; SDR16C5; retSDR2", "protein_names_uniprotkb": "Epidermal retinol dehydrogenase 2; 1.1.1.105; EPHD-2; RDH-E2; Retinal short-chain dehydrogenase reductase 2; Short-chain dehydrogenase/reductase family 16C member 5; retSDR2", "protein_names_refseq": "epidermal retinal dehydrogenase 2; epidermal retinol dehydrogenase 2 isoform 1; epidermal retinol dehydrogenase 2; retinal short chain dehydrogenase reductase; retinal short-chain dehydrogenase reductase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:195814); (R-HSA-5365859)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10329026;10369264;10839978;11007799;11237011;11245473;12036956;12226107;12372410;12680773;14532297;14596915;15457346;18039331;18805086;1889753;18926804;20068231;20801113;21529158;21621639;21851338;22019272;23220587;2935875;29393594;29789417;3013304;30379171;30397120;30484775;31154438;31217245;32157095;35580925;36215666;36284347;38898137;8493914;9228021;9677409;9705317", "class_list": "", "function": "LRG1 and SDR16C5 protein expressions differ according to HPV status in oropharyngeal squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Mapped to chromosome 8; may be involved in the pathogenesis of psoriasis through its critical role in retinol metabolism in keratinocyte proliferation, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Oxidoreductase with strong preference for NAD (PubMed:18926804). Active in both the oxidative and reductive directions (PubMed:18926804). Oxidizes all-trans-retinol in all-trans-retinaldehyde (PubMed:18926804). No activity was detected with 11-cis-retinol or 11-cis-retinaldehyde as substrates with either NAD(+)/NADH or NADP(+)/NADPH (PubMed:18926804)., [UniProtKB, PubMed]; This gene encodes a member of the short-chain alcohol dehydrogenase/reductase superfamily of proteins and is involved in the oxidation of retinol to retinaldehyde. The encoded protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, suggesting that it is an integral membrane protein. It recognizes all-trans-retinol and all-trans-retinaldehyde as substrates and exhibits a strong preference for NAD(+)/NADH as cofactors. 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": 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": 2, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DGK2;Q330K3;Q8TDV9;Q96LX1", "ec_number_list": [ { "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": "1.1.1.105", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.105", "type": "external" }, { "id": "1.1.1.209", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.209", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.315", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.315", "type": "external" }, { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" } ], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0004745 all-trans-retinol dehydrogenase (NAD+) activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding;GO:0140297 DNA-binding transcription factor binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane;GO:0017053 transcription repressor complex;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0042572 retinol metabolic process;GO:0042574 retinal metabolic process;GO:0045814 negative regulation of gene expression, epigenetic;GO:0043616 keratinocyte proliferation", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8N3Y7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFH8-1", "uniprot_id": [ { "id": "REPS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFH8", "type": "external" } ], "mass": 71534.0, "length": 660, "protein_name": "RalBP1-associated Eps domain-containing protein 2", "gene_name": "REPS2", "organism": "Human", "refseq_name": "ralBP1-associated Eps domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001074444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074444", "type": "external" } ], "gene_names_uniprotkb": "REPS2; POB1", "gene_names_refseq": "POB1; REPS2", "protein_names_uniprotkb": "RalBP1-associated Eps domain-containing protein 2; Partner of RalBP1; RalBP1-interacting protein 2", "protein_names_refseq": "RALBP1-interacting protein 2; partner of Ral-binding protein 1; partner of RalBP1; ralBP1-associated Eps domain-containing protein 2 isoform 2; ralBP1-associated Eps domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9185); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 234, "publication_id_list": "10097102;10393179;10436022;10535736;10542231;10557078;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12149250;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12771942;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18647389;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19413330;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19776672;19809571;19853559;19901323;20033059;20059951;20166139;20211604;20231386;20351096;20428113;20448150;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23033978;23297414;23536704;23803043;23823722;23861397;23891661;24130457;24186068;24275569;24384571;24581490;24680432;24715725;24746795;24789820;24966051;25107275;25303366;25341920;25645385;25880248;26042225;26154972;26403691;26829388;27120794;28579616;28657654;28834231;28904123;2890644;29557506;30315122;30429286;31844290;32157095;32357974;33141586;33912179;3417785;34211107;34561969;35051231;35690292;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9422736;9427626;9428629;9635431;9723620;9736607;9812899;9928989", "class_list": "", "function": "Downregulation of REPS2 may contribute to malignant progression of esophageal squamous cell carcinoma and represent a novel prognostic marker and a potential therapeutic target for esophageal squamous cell carcinoma patients., [RefSeq, PubMed]; HIV-1 gp41 promotes viral endocytosis in a CD4-independent manner by interacting with the host protein POB1., [RefSeq, PubMed]; Involved in ligand-dependent receptor mediated endocytosis of the EGF and insulin receptors as part of the Ral signaling pathway (PubMed:10393179, PubMed:12771942, PubMed:9422736). By controlling growth factor receptors endocytosis may regulate cell survival (PubMed:12771942). Through ASAP1 may regulate cell adhesion and migration (PubMed:12149250)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MiR-675-5p might play an oncogenic role in esophageal squamous cell carcinoma (ESCC) through RalBP1/RAC1/CDC42 signaling pathway by inhibiting REPS2 and might serve as a valuable prognostic biomarker and therapeutic target for ESCC patients., [RefSeq, PubMed]; REPS2 downregulation facilitates FGF-induced adhesion and migration in human lens epithelial cells through FAK/Cdc42 signaling and contributes to posterior capsule opacification., [RefSeq, PubMed]; REPS2 may be a useful tumor marker for favorable prognosis in breast cancer., [RefSeq, PubMed]; The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6PWZ6;O43428;Q5JNZ8;Q8NFI5", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007173 epidermal growth factor receptor signaling pathway;GO:0016197 endosomal transport;GO:0065003 protein-containing complex assembly", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "Q8NFH8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXH6-1", "uniprot_id": [ { "id": "RB40A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXH6", "type": "external" } ], "mass": 31076.0, "length": 277, "protein_name": "Ras-related protein Rab-40A", "gene_name": "RAB40A", "organism": "Human", "refseq_name": "ras-related protein Rab-40A", "refseq_ac": [ { "id": "NP_543155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_543155", "type": "external" } ], "gene_names_uniprotkb": "RAB40A", "gene_names_refseq": "RAB40A; RAR2A; RAR2", "protein_names_uniprotkb": "Ras-related protein Rab-40A; 3.6.5.2; Protein Rar-2; SOCS box-containing protein RAR2A", "protein_names_refseq": "SOCS box-containing protein RAR2A; protein Rar-2; ras-related protein Rab-40A", "tax_id": 9606, "disease": "", "pathway": " (hsa:142684); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "11141079;11389151;11447212;11675392;16401880;1648736;16923123;17114793;17411337;18532927;19603039;22694141;24023390;25341920;26598620;26969162;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "RAB40A small GTPase acts as substrate-recognition component of the ECS(RAB40A) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:26598620). The Rab40 subfamily belongs to the Rab family that are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). As part of the ECS(RAB40A) complex, mediates RHOU 'Lys-48'-linked ubiquitination and degradation, thus inhibiting focal adhesion disassembly during cell migration (PubMed:26598620)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the Rab40 subfamily of Rab small GTP-binding proteins that contains a C-terminal suppressors of cytokine signaling box. [provided by RefSeq, Apr 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": 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": "O00407;Q17RQ5;Q6DK06;Q8TF06", "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": "2.5.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.60", "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:0046872 metal ion binding;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0003925 G protein activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0008021 synaptic vesicle;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:0006887 exocytosis;GO:0120184 negative regulation of focal adhesion disassembly", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8WXH6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96H35-1", "uniprot_id": [ { "id": "RBM18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96H35", "type": "external" } ], "mass": 21649.0, "length": 190, "protein_name": "Probable RNA-binding protein 18", "gene_name": "RBM18", "organism": "Human", "refseq_name": "probable RNA-binding protein 18", "refseq_ac": [ { "id": "NP_149108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149108", "type": "external" } ], "gene_names_uniprotkb": "RBM18", "gene_names_refseq": "RBM18", "protein_names_uniprotkb": "Probable RNA-binding protein 18; RNA-binding motif protein 18", "protein_names_refseq": "probable RNA-binding protein 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:92400)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "21872626;22645359;24366607;25505266;25576301;25880248;26992070;28904123;29437277;29493099;29557506;29786170;30410026;30429286;31222486;31844290;31848261;32157095;32357974;32502341;32897882;32983136;33592498;33633747;33912179;33968037;33981976;35580925;36241641;37074911", "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 9696, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KQ89", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q96H35-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0N0-1", "uniprot_id": [ { "id": "RAB6C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0N0", "type": "external" } ], "mass": 28355.0, "length": 254, "protein_name": "Ras-related protein Rab-6C", "gene_name": "RAB6C", "organism": "Human", "refseq_name": "ras-related protein Rab-6C", "refseq_ac": [ { "id": "NP_115520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115520", "type": "external" } ], "gene_names_uniprotkb": "RAB6C; WTH3", "gene_names_refseq": "RAB6C; WTH3", "protein_names_uniprotkb": "Ras-related protein Rab-6C; 3.6.5.2; Rab6-like protein WTH3", "protein_names_refseq": "rab6-like protein WTH3; ras-related protein Rab-6C", "tax_id": 9606, "disease": "retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:84084)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11054569;11230166;12007787;16103095;16267028;17426708;18992151;20064528;21822290;22949199;28255813;28514659;28904123;29242379;29393594;29632711;33298915;33592498;33912179;34515321", "class_list": "", "function": "Rab6A'(Q72L) was then purified to homogeneity and crystallized at 293 K. X-ray diffraction data were collected to a resolution of 1.9 A from a crystal belonging to space group P22(1)2(1) with unit-cell parameters a = 36.84, b = 96.78, c = 109.99 A, [RefSeq, PubMed]; Rab6c is a new target of miR218 that can promote the progression of bladder cancer., [RefSeq, PubMed]; The behavior of WTH3 in primary drug-resistant breast cancer epithelial cells was similar to that in a model system where epigenetic regulation of the WTH3 gene was linked to the MDR phenotype., [RefSeq, PubMed]; The negative role played by the WTH3 gene in MDR development is through its proapoptotic potential that is regulated by multiple mechanisms at the transcription level, and one of these mechanisms is linked to the p53 gene., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB6C may be involved in the regulation of centrosome duplication and cell cycle progression., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; This is the first study to report hypermethylation of LRPPRC, RAB6C, and ZNF471 in squamous cell carcinoma of the tongue, [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": 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": "Q53RU3;Q6FIF7;Q9P128", "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:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0005813 centrosome;GO:0005829 cytosol;GO:0012505 endomembrane system", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0000278 mitotic cell cycle;GO:0006886 intracellular protein transport;GO:0007264 small GTPase-mediated signal transduction;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9H0N0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H6H4-1", "uniprot_id": [ { "id": "REEP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H6H4", "type": "external" } ], "mass": 29395.0, "length": 257, "protein_name": "Receptor expression-enhancing protein 4", "gene_name": "REEP4", "organism": "Human", "refseq_name": "receptor expression-enhancing protein 4 isoform 3", "refseq_ac": [ { "id": "NP_001303894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303894", "type": "external" } ], "gene_names_uniprotkb": "REEP4; C8orf20; PP432", "gene_names_refseq": "C8orf20; PP432; REEP4; Yip2c", "protein_names_uniprotkb": "Receptor expression-enhancing protein 4", "protein_names_refseq": "receptor expression-enhancing protein 4 isoform 3; receptor expression-enhancing protein 4", "tax_id": 9606, "disease": "hereditary spastic paraplegia 31 (Disease Ontology:DOID:0110782)", "pathway": " (hsa:80346)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;15498874;15550249;16720576;17081983;17322306;18212344;18452278;18578522;18669648;18767875;19413330;19651622;20058876;20166139;21406692;23186163;23911198;25576301;25880248;26992070;27920218;28832583;29242379;29493099;29557506;30429286;30620550;30779550;30784271;30995177;31154438;31222486;31844290;31848261;32157095;32161166;32350084;32357974;32502341;32897882;32983136;33123756;33141586;33298915;33592498;33936100;33968037;33981976;34171305;34874453;34932366;35251023;35561310;35580925;36241641;40596516", "class_list": "", "function": "Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Reticulon-like REEP4 at the inner nuclear membrane promotes nuclear pore complex formation., [RefSeq, PubMed]; The endoplasmic reticulum (ER) membrane proteins REEP3 and REEP4 as major determinants of ER morphology in metaphase 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": 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": "D3DSQ9;Q86VL1;Q9H6I5;Q9HBP4", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0005881 cytoplasmic microtubule;GO:0071782 endoplasmic reticulum tubular network;GO:0005874 microtubule", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0051301 cell division;GO:0007084 mitotic nuclear membrane reassembly;GO:0006998 nuclear envelope organization", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9H6H4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P258-1", "uniprot_id": [ { "id": "RCC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P258", "type": "external" } ], "mass": 56085.0, "length": 522, "protein_name": "Protein RCC2", "gene_name": "RCC2", "organism": "Human", "refseq_name": "protein RCC2", "refseq_ac": [ { "id": "NP_001129676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129676", "type": "external" } ], "gene_names_uniprotkb": "RCC2; KIAA1470; TD60", "gene_names_refseq": "RCC2; TD-60", "protein_names_uniprotkb": "Protein RCC2; RCC1-like protein TD-60; Telophase disk protein of 60 kDa", "protein_names_refseq": "RCC1-like protein TD-60; epididymis secretory sperm binding protein; protein RCC2; telophase disk protein of 60 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:55920); (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": 164, "publication_id_list": "10.1101/2023.09.13.557529;10411507;10600384;10678165;10958683;11081627;11181178;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12429849;12577064;12679384;12732141;12805219;12852857;12919680;14730319;15006353;15085137;15339662;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17081983;17112726;17113138;17129783;17196341;17198702;1737036;17525332;18001770;18097444;18669648;18716626;18923426;19350017;1939370;19413330;19608861;19690332;19696148;19738201;19815554;19965387;20030946;20068231;20101212;20591975;20873769;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22282019;22608513;22790947;22885700;23186163;23222643;23301498;23388455;23801653;24190977;24366607;24914801;25074804;25418920;25469497;25576301;25645385;25740311;25789526;25880248;25892735;26154972;26158537;26375851;26992070;27846572;28510447;28514659;28869598;28904123;29437277;29493099;29508533;29557506;30410026;30429286;31277942;31409757;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33214551;33392160;33592498;33633747;33912179;33936100;33968037;33981976;34019948;34087483;34260926;34725712;34931806;34932366;35051231;35138101;35251023;35254053;35289036;35318648;35561310;35580925;36010968;36116740;36241641;36284347;36581221;36593385;37217939;37938771;38008751;38665916;38801297;40596516;7559776;9649308;9649503;9892021;9914378", "class_list": "", "function": "A complex containing cortactin and RCC2/TD60 complex that may play a functional role in cells undergoing mitosis., [RefSeq, PubMed]; Data show that TD-60 is a member of the RCC1 family and that it binds preferentially the nucleotide-free form of the small G protein Rac1., [RefSeq, PubMed]; Dysregulation of Rac1 and Arf6 function by RCC2 knockdown also abolished persistent migration along fibronectin fibers, indicating a functional role for RCC2 in directional cell movement. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA HOTAIR enhances RCC2 to accelerate cervical cancer progression by sponging miR-331-3p., [RefSeq, PubMed]; Multifunctional protein that may affect its functions by regulating the activity of small GTPases, such as RAC1 and RALA (PubMed:12919680, PubMed:25074804, PubMed:26158537, PubMed:28869598). Required for normal progress through the cell cycle, both during interphase and during mitosis (PubMed:12919680, PubMed:23388455, PubMed:26158537). Required for the presence of normal levels of MAD2L1, AURKB and BIRC5 on inner centromeres during mitosis, and for normal attachment of kinetochores to mitotic spindles (PubMed:12919680, PubMed:26158537). Required for normal organization of the microtubule cytoskeleton in interphase cells (PubMed:23388455). Functions as guanine nucleotide exchange factor (GEF) for RALA (PubMed:26158537). Interferes with the activation of RAC1 by guanine nucleotide exchange factors (PubMed:25074804). Prevents accumulation of active, GTP-bound RAC1, and suppresses RAC1-mediated reorganization of the actin cytoskeleton and formation of membrane protrusions (PubMed:25074804, PubMed:28869598). Required for normal cellular responses to contacts with the extracellular matrix of adjacent cells, and for directional cell migration in response to a fibronectin gradient (in vitro) (PubMed:25074804, PubMed:28869598)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; NudCL2 is required for cytokinesis by stabilizing RCC2 with Hsp90 at the midbody., [RefSeq, PubMed]; RCC2 promotes proliferation and radio-resistance in glioblastoma via activating transcription of DNMT1., [RefSeq, PubMed]; RCC2 promotes prostate cancer cell proliferation and migration through Hh/GLI1 signaling pathway and cancer stem-like cells. Publication Status: Online-Only, [RefSeq, PubMed]; Studies indicated that DDX21, HNRNPC, and RCC2 were isolated from Ku86 multicomponent complex in response to DNA damage., [RefSeq, PubMed]; The mitotic regulator RCC2 promotes glucose metabolism through BACH1-dependent transcriptional upregulation of hexokinase II in glioma., [RefSeq, PubMed]; The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [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": 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": 12, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 9, "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": "Q8IVL9;Q9BSN6;Q9NPV8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008017 microtubule binding;GO:0019901 protein kinase binding;GO:0019904 protein domain specific binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005874 microtubule;GO:0005886 plasma membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:1900027 regulation of ruffle assembly;GO:0010762 regulation of fibroblast migration;GO:0007229 integrin-mediated signaling pathway;GO:0010971 positive regulation of G2/M transition of mitotic cell cycle;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 16.9, "record_id": "Q9P258-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2N5-1", "uniprot_id": [ { "id": "RBM27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2N5", "type": "external" } ], "mass": 118718.0, "length": 1060, "protein_name": "RNA-binding protein 27", "gene_name": "RBM27", "organism": "Human", "refseq_name": "RNA-binding protein 27", "refseq_ac": [ { "id": "NP_061862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061862", "type": "external" } ], "gene_names_uniprotkb": "RBM27; KIAA1311", "gene_names_refseq": "ARRS1; Psc1; RBM27", "protein_names_uniprotkb": "RNA-binding protein 27; RNA-binding motif protein 27", "protein_names_refseq": "RNA-binding protein 27; acidic rich RS domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54439); (R-HSA-9930044)", "pathway_count": 2, "publication_count": 109, "publication_id_list": "16964243;17174896;17412707;18220336;18669648;20068230;20068231;21705430;21855801;22661428;23186163;23301498;23481700;24129315;24275569;24366607;24714562;25576301;25578728;25645385;25880248;25892735;26154972;26375851;26728094;26992070;27434818;27600516;27846572;27862975;27871484;27920218;28218747;28228285;28314751;28649982;28832583;28834231;28904123;29237092;29242379;29298432;29351928;29393594;29437277;29508533;29557506;29786170;29906447;30059200;30315122;30379171;30620550;30833945;31154438;31217245;31222486;31373491;31492838;31530632;31844290;31848261;31950173;31998317;32157095;32357974;32387766;32502341;32574038;32938616;32938750;32983136;33214551;33592498;33767452;33912179;33913806;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34509645;34725712;34846842;34932366;35051231;35132862;35138101;35289036;35513511;35580925;35705054;36010968;36284347;37340703;37875486;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422;41350704", "class_list": "", "function": "May be involved in the turnover of nuclear polyadenylated (pA+) RNA., [UniProtKB, PubMed]; PAPgamma associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs. Publication Status: Online-Only, [RefSeq, PubMed]; Three additional proteins required for Poly(A) Tail eXosome Targeting (PAXT) function: ZC3H3, RBM26 and RBM27 along with the known PAXT-associated protein, PABPN1, were identified., [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": 36, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 36, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 36, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 37, "binding_glycan_count": 0, "secondary_ac_list": "Q8IYW9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q9P2N5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJZ7-1", "uniprot_id": [ { "id": "RIM3C_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJZ7", "type": "external" } ], "mass": 180950.0, "length": 1639, "protein_name": "RIMS-binding protein 3C", "gene_name": "RIMBP3C", "organism": "Human", "refseq_name": "RIMS-binding protein 3C", "refseq_ac": [ { "id": "NP_001122105", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122105", "type": "external" } ], "gene_names_uniprotkb": "RIMBP3C", "gene_names_refseq": "RIM-BP3.3; RIMBP3.3; RIMBP3C", "protein_names_uniprotkb": "RIMS-binding protein 3C; RIM-BP3.3; RIM-BP3.C; RIMS-binding protein 3.3", "protein_names_refseq": "RIM-BP3.C; RIMS binding protein 3.3; RIMS-binding protein 3C", "tax_id": 9606, "disease": "", "pathway": " (hsa:150221)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "19807924;27920218;28228285;28832583;28834231;28855257;28904123;29393594;29632046;31844290;32157095;32357974;32387766;32938616;32983136;33141586;33968037;34509645;35051231;35580925;36010968;36241641", "class_list": "", "function": "Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development., [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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030156 benzodiazepine receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005856 cytoskeleton", "go_biological_process": "GO:0009566 fertilization;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "A6NJZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNM3-1", "uniprot_id": [ { "id": "RIM3B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNM3", "type": "external" } ], "mass": 180952.0, "length": 1639, "protein_name": "RIMS-binding protein 3B", "gene_name": "RIMBP3B", "organism": "Human", "refseq_name": "RIMS-binding protein 3B", "refseq_ac": [ { "id": "NP_001122107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122107", "type": "external" } ], "gene_names_uniprotkb": "RIMBP3B", "gene_names_refseq": "RIM-BP3.2; RIM-BP3.B; RIMBP3.2; RIMBP3B", "protein_names_uniprotkb": "RIMS-binding protein 3B; RIM-BP3.2; RIM-BP3.B; RIMS-binding protein 3.2", "protein_names_refseq": "RIMS binding protein 3.2; RIMS-binding protein 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:440804)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Probable component of the manchette, a microtubule-based structure which plays a key role in sperm head morphogenesis during late stages of sperm development., [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0030156 benzodiazepine receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005856 cytoskeleton", "go_biological_process": "GO:0009566 fertilization;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A6NNM3-1", "record_type": "protein", "filter_code": "0000000.1000001.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14921-1", "uniprot_id": [ { "id": "RGS13_HUMAN", "url": "https://www.uniprot.org/uniprot/O14921", "type": "external" } ], "mass": 19135.0, "length": 159, "protein_name": "Regulator of G protein signaling 13", "gene_name": "RGS13", "organism": "Human", "refseq_name": "regulator of G-protein signaling 13", "refseq_ac": [ { "id": "NP_002918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002918", "type": "external" } ], "gene_names_uniprotkb": "RGS13", "gene_names_refseq": "RGS13", "protein_names_uniprotkb": "Regulator of G protein signaling 13; RGS13", "protein_names_refseq": "regulator of G-protein signaling 13; regulator of G-protein signalling 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:6003); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10191087;10567430;10727532;10861009;11007482;11015615;11742120;11753430;11875076;12120503;12970790;15951850;16182515;16268778;16339447;16565322;16634148;16754659;16923326;18434541;18515384;18577758;18936096;1905813;20627871;20974683;21531726;23481700;24715725;2534964;25892735;2748346;2834384;2841328;30308012;3086311;35561310;7937899;8015379;8406495;8664309;9305846;9770463", "class_list": "", "function": "Down-Regulation of regulator of G-protein signalling 13 is associated with mantle cell lymphoma, [RefSeq, PubMed]; Functional characterization of the G protein regulator RGS13, [RefSeq, PubMed]; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to both G(i)-alpha and G(q)-alpha (By similarity)., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; P53 may modulate immune responses through suppression of RGS13 transcription in mast cells and B cells, [RefSeq, PubMed]; RGS1 and RGS13 act together to regulate chemokine receptor signaling in human germinal center B lymphocytes and contribute significantly to the rapid desensitization of the signaling pathway., [RefSeq, PubMed]; RGS13 turnover was significantly reduced in cells stimulated with cAMP, which was reversed by expression of the PKA-specific inhibitory peptide PKI., [RefSeq, PubMed]; Study demonstrates for the first time that miR-139 and miR-452 negatively regulate RGS13 expression which is known to be involved in germinal centers regulation. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the regulator of G protein signaling (RGS) family. RGS family members share similarity with S. cerevisiae SST2 and C. elegans egl-10 proteins, which contain a characteristic conserved RGS domain. RGS proteins accelerate GTPase activity of G protein alpha-subunits, thereby driving G protein into their inactive GDP-bound form, thus negatively regulating G protein signaling. RGS proteins have been implicated in the fine tuning of a variety of cellular events in response to G protein-coupled receptor activation. The biological function of this gene, however, is unknown. Two transcript variants encoding the same isoform exist. [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": 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": "Q6PGR2;Q8TD63;Q9BX45", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O14921-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14924-1", "uniprot_id": [ { "id": "RGS12_HUMAN", "url": "https://www.uniprot.org/uniprot/O14924", "type": "external" } ], "mass": 156357.0, "length": 1447, "protein_name": "Regulator of G protein signaling 12", "gene_name": "RGS12", "organism": "Human", "refseq_name": "regulator of G-protein signaling 12 isoform 2", "refseq_ac": [ { "id": "NP_002917", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002917", "type": "external" } ], "gene_names_uniprotkb": "RGS12", "gene_names_refseq": "RGS12", "protein_names_uniprotkb": "Regulator of G protein signaling 12; RGS12", "protein_names_refseq": "regulator of G-protein signaling 12 isoform 2; regulator of G-protein signalling 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:6002); (R-HSA-418594)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10869340;11007482;11237011;12024043;12120503;15951850;16634148;16923326;17287340;17525332;18077418;18434541;18577758;23481700;24129315;2534964;26992070;2748346;2834384;28904123;29557506;30315122;30429286;30779550;31154438;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32502341;32938616;33091337;33141586;33298915;33968037;33981976;34087483;34509645;34796776;34931491;34932366;35051231;35318648;35580925;36010968;36241641;36797232;39293332;39894887;7937899;8015379;8406495;9168931;9651375", "class_list": "", "function": "Behaves as a cell cycle-dependent transcriptional repressor, promoting inhibition of S-phase DNA synthesis., [UniProtKB, PubMed]; Distinct and overlapping RGS14 and RGS12 actions regulate NPT2A-mediated phosphate transport., [RefSeq, PubMed]; RGS12 Drives Macrophage Activation and Osteoclastogenesis in Periodontitis., [RefSeq, PubMed]; RGS12 inhibits the progression and metastasis of multiple myeloma by driving M1 macrophage polarization and activation in the bone marrow microenvironment., [RefSeq, PubMed]; RGS12 represses oral squamous cell carcinoma by driving M1 polarization of tumor-associated macrophages via controlling ciliary MYCBP2/KIF2A signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form., [UniProtKB, UniProtKB]; Shows chromosomal mapping information for human locus., [RefSeq, PubMed]; This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 43, "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": "B1AQ30;B1AQ31;B1AQ32;B7Z764;E7EMN9;O14922;O14923;O43510;O75338;Q147X0;Q8WX95", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007186 G protein-coupled receptor signaling pathway;GO:0009968 negative regulation of signal transduction;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O14924-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15492-1", "uniprot_id": [ { "id": "RGS16_HUMAN", "url": "https://www.uniprot.org/uniprot/O15492", "type": "external" } ], "mass": 22749.0, "length": 202, "protein_name": "Regulator of G protein signaling 16", "gene_name": "RGS16", "organism": "Human", "refseq_name": "regulator of G-protein signaling 16", "refseq_ac": [ { "id": "NP_002919", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002919", "type": "external" } ], "gene_names_uniprotkb": "RGS16; RGSR", "gene_names_refseq": "A28-RGS14P; A28-RGS14; RGS-R; RGS16", "protein_names_uniprotkb": "Regulator of G protein signaling 16; A28-RGS14P; RGS-r; RGS16; Retinal-specific RGS; Retinally abundant regulator of G protein signaling; hRGS-r", "protein_names_refseq": "hRGS-r; regulator of G-protein signaling 16; regulator of G-protein signalling 16; retinal-specific RGS; retinally abundant regulator of G-protein signaling", "tax_id": 9606, "disease": "", "pathway": " (hsa:6004); (R-HSA-416476); (R-HSA-418594); (R-HSA-418597)", "pathway_count": 4, "publication_count": 81, "publication_id_list": "10191087;10567430;10727532;10861009;10954748;11007482;11015615;11313909;11522288;11602604;11742120;11753430;12120503;12588871;1347957;15951850;16182515;16268778;16339447;16634148;16754659;16923326;18434541;18515384;18577758;18936096;1905813;1939224;22645359;23481700;2534964;25418920;26154972;26375851;26929215;2748346;27846572;27920218;2834384;2841328;28502923;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29786170;30410026;3086311;31217245;31844290;32157095;32387766;32502341;32897882;32983136;33141586;33298915;33936100;33981976;34211107;34932366;35051231;35830366;36414916;36443250;37473526;37938771;38906869;7559455;7595566;7937899;8015379;8406495;8664309;9223279;9305846;9469939;9770463", "class_list": "", "function": "Critical roles of RGS16 in the mucosal inflammation of ulcerative colitis., [RefSeq, PubMed]; Gene expression meta-analysis in patients with schizophrenia reveals up-regulation of RGS2 and RGS16 in Brodmann Area 10., [RefSeq, PubMed]; RGS16 regulated by let-7c-5p promotes glioma progression by activating PI3K-AKT pathway., [RefSeq, PubMed]; RGS16 regulates Hippo-YAP activity to promote esophageal cancer cell proliferation and migration., [RefSeq, PubMed]; Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:11602604, PubMed:18434541). Plays an important role in the phototransduction cascade by regulating the lifetime and effective concentration of activated transducin alpha. May regulate extra and intracellular mitogenic signals (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Regulator of G protein signaling 16 restrains apoptosis in colorectal cancer through disrupting TRAF6-TAB2-TAK1-JNK/p38 MAPK signaling. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the 'regulator of G protein signaling' family. It inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits. It also may play a role in regulating the kinetics of signaling in the phototransduction cascade. [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": 9, "reported_mutagensis": 2, "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": "B2R4M4;Q5VYN9;Q99701", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0043547 positive regulation of GTPase activity;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0007601 visual perception;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "O15492-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15539-1", "uniprot_id": [ { "id": "RGS5_HUMAN", "url": "https://www.uniprot.org/uniprot/O15539", "type": "external" } ], "mass": 20946.0, "length": 181, "protein_name": "Regulator of G protein signaling 5", "gene_name": "RGS5", "organism": "Human", "refseq_name": "regulator of G-protein signaling 5 isoform 2", "refseq_ac": [ { "id": "NP_001182232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182232", "type": "external" } ], "gene_names_uniprotkb": "RGS5", "gene_names_refseq": "MST092; MST106; MST129; MSTP032; MSTP092; MSTP106; MSTP129; RGS5", "protein_names_uniprotkb": "Regulator of G protein signaling 5; RGS5", "protein_names_refseq": "regulator of G-protein signaling 5 isoform 2; regulator of G-protein signalling 5", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825)", "pathway": " (hsa:8490); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 3, "publication_count": 56, "publication_id_list": "10191087;10471929;10567430;10727532;10861009;11007482;11015615;11237011;11742120;11753430;12120503;15670159;15951850;16182515;16268778;16339447;16634148;16754659;16923326;17540411;18434541;18515384;18577758;18936096;1905813;2534964;27397612;2748346;27862975;2834384;2841328;28832583;29557506;29786170;30429286;3086311;31530632;31844290;31848261;32157095;32938616;34359918;35051231;35580925;35681135;36111549;36284347;37594134;37938771;7937899;8015379;8406495;8664309;9305846;9747037;9770463", "class_list": "", "function": "Implications of regulator of G-protein signaling 5 expression in the pathogenesis of primary and secondary hyperparathyroidism. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i)-alpha and G(o)-alpha, but not to G(s)-alpha (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Lnc-RGS5 sponges miR-542-5p to promote FoxM1/VEGFA signaling and breast cancer cell proliferation., [RefSeq, PubMed]; RGS5 Attenuates Baseline Activity of ERK1/2 and Promotes Growth Arrest of Vascular Smooth Muscle Cells. Publication Status: Online-Only, [RefSeq, PubMed]; RGS5: a novel role as a hypoxia-responsive protein that suppresses chemokinetic and chemotactic migration in brain pericytes., [RefSeq, PubMed]; This locus represents naturally occurring readthrough transcription between the neighboring LOC127814295 (uncharacterized LOC127814295) and RGS5 (regulator of G-protein signaling 5) genes on chromosome 1. Some variants of the readthrough transcript encode novel proteins with unique N-termini. [provided by RefSeq, Nov 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": 1, "reported_mutagensis": 0, "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": "E9PMP5;Q53XA9;Q599J0", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:1904706 negative regulation of vascular associated smooth muscle cell proliferation;GO:0008277 regulation of G protein-coupled receptor signaling pathway;GO:0009968 negative regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O15539-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43665-3", "uniprot_id": [ { "id": "RGS10_HUMAN", "url": "https://www.uniprot.org/uniprot/O43665", "type": "external" } ], "mass": 21210.0, "length": 181, "protein_name": "Regulator of G protein signaling 10", "gene_name": "RGS10", "organism": "Human", "refseq_name": "regulator of G-protein signaling 10 isoform a", "refseq_ac": [ { "id": "NP_001005339", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005339", "type": "external" } ], "gene_names_uniprotkb": "RGS10", "gene_names_refseq": "RGS10", "protein_names_uniprotkb": "Regulator of G protein signaling 10; RGS10", "protein_names_refseq": "regulator of G-protein signaling 10 isoform a; regulator of G-protein signalling 10", "tax_id": 9606, "disease": "opioid abuse (Disease Ontology:DOID:11206)", "pathway": " (hsa:6001); (R-HSA-418594)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10608901;10791963;11007482;11443111;12120503;15951850;16634148;16923326;17287340;18434541;18577758;22544926;22645359;23481700;24275569;24366607;24715725;2534964;25418920;25576301;25892735;26154972;26811146;26929215;26992070;2748346;27600516;27846572;27862975;27920218;28063628;28218747;28228285;2834384;28832583;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33354811;33392160;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34211107;34315806;34405274;34412704;34509645;35051231;35318648;35580925;35810565;36241641;37938771;38331118;7937899;8015379;8406495;8774883;9353196", "class_list": "", "function": "A broad analysis in clinical and in vitro models on regulator of G-protein signalling 10 regulation that is associated with ovarian cancer progression and chemoresistance., [RefSeq, PubMed]; Epigenetic insights into Familial Mediterranean Fever: Increased RGS10 expression and histone modifications accompanies inflammation in familial Mediterranean fever disease., [RefSeq, PubMed]; Experimental colitis promotes sustained, sex-dependent, T-cell-associated neuroinflammation and parkinsonian neuropathology. Publication Status: Online-Only, [RefSeq, PubMed]; RGS10 suppression by DNA methylation is associated with low survival rates in colorectal carcinoma., [RefSeq, PubMed]; Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the muscarinic acetylcholine receptor CHRM2. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:10608901, PubMed:11443111, PubMed:18434541, PubMed:8774883, PubMed:9353196). Modulates the activity of potassium channels that are activated in response to CHRM2 signaling (PubMed:11443111). Activity on GNAZ is inhibited by palmitoylation of the G protein (PubMed:9353196)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 10 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. This protein associates specifically with the activated forms of the two related G-protein subunits, G-alphai3 and G-alphaz but fails to interact with the structurally and functionally distinct G-alpha subunits. Regulator of G protein signaling 10 protein is localized in the nucleus. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Short stature and combined immunodeficiency associated with mutations in RGS10. 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": 5, "reported_mutagensis": 1, "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": "A8K408;B1AMR8;Q6IAZ6;Q96GN0", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0001965 G-protein alpha-subunit binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007213 G protein-coupled acetylcholine receptor signaling pathway;GO:0043547 positive regulation of GTPase activity;GO:0009968 negative regulation of signal transduction;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "O43665-3", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75570-1", "uniprot_id": [ { "id": "RF1M_HUMAN", "url": "https://www.uniprot.org/uniprot/O75570", "type": "external" } ], "mass": 52306.0, "length": 445, "protein_name": "Peptide chain release factor 1, mitochondrial", "gene_name": "MTRF1", "organism": "Human", "refseq_name": "peptide chain release factor 1, mitochondrial", "refseq_ac": [ { "id": "NP_004285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004285", "type": "external" } ], "gene_names_uniprotkb": "MTRF1", "gene_names_refseq": "MRF1; MTRF1; MTTRF1; RF1", "protein_names_uniprotkb": "Peptide chain release factor 1, mitochondrial; MRF-1; MtRF-1", "protein_names_refseq": "mitochondrial translational release factor 1; mitochontrial peptide chain release factor 1; peptide chain release factor 1, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:9617); (R-HSA-5419276)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "11237011;17803939;18429816;18782833;19716793;20186120;22172991;22569235;25233460;25892735;28228285;28904123;29769354;29786170;31844290;32897882;32938616;33717175;33912179;34357683;35051231;35260756;35580925;35705054;36302763;36596788;37141370;9838146", "class_list": "", "function": "Human mitochondria require mtRF1 for translation termination at non-canonical stop codons. Publication Status: Online-Only, [RefSeq, PubMed]; Human mtRF1 terminates COX1 translation and its ablation induces mitochondrial ribosome-associated quality control. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non-canonical stop codons AGG and AGA (PubMed:36302763, PubMed:36596788, PubMed:37141370). Non-canonical termination codons AGG and AGA are found at the end of MT-CO1/COX1 and MT-ND6/ND6 open reading frames, respectively (PubMed:37141370). Recognizes non-canonical stop codons via a network of interactions between the codon, MTRF1 and the ribosomal RNA (rRNA): in contrast to other translation release factors, which identify the codon in the A-site via direct interactions of amino acid side chains with the bases, MTRF1 repositions the first 2 bases of the stop codon to use an intricate network of interactions that includes residues of the release factor, the rRNA of the small ribosomal subunit, as well as neighboring bases of the mRNA (PubMed:37141370)., [UniProtKB, PubMed, PubMed, PubMed]; Molecular basis of translation termination at noncanonical stop codons in human mitochondria., [RefSeq, PubMed]; Purified mtRF1 did not induce translation termination in vitro nor did mtRF1 restore mitochondrial translation machinery in mutated S. cerevisiae in vivo. A different mtRF, mtRF1a, was found., [RefSeq, PubMed]; The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [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": 1, "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": "B4DG01;Q5T6Y5;Q8IUQ6", "ec_number_list": [], "go_molecular_function": "GO:0003747 translation release factor activity;GO:0016149 translation release factor activity, codon specific", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0070126 mitochondrial translational termination;GO:0006415 translational termination", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O75570-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75677-1", "uniprot_id": [ { "id": "RFPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75677", "type": "external" } ], "mass": 35491.0, "length": 317, "protein_name": "Ret finger protein-like 1", "gene_name": "RFPL1", "organism": "Human", "refseq_name": "ret finger protein-like 1 isoform 1", "refseq_ac": [ { "id": "NP_066306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066306", "type": "external" } ], "gene_names_uniprotkb": "RFPL1; RFPL1L; RNF78", "gene_names_refseq": "RFPL1; RNF78", "protein_names_uniprotkb": "Ret finger protein-like 1; RING finger protein 78", "protein_names_refseq": "RING finger protein 78; ret finger protein-like 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5988)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "10508838;18656177;20725088;31530632;34078123", "class_list": "", "function": "HRFPL1 antiproliferative activity led to an increased cell population in G(2)/M phase and specific cyclin B1 and Cdc2 downregulations., [RefSeq, PubMed]; Negatively regulates the G2-M phase transition, possibly by promoting cyclin B1/CCNB1 and CDK1 proteasomal degradation and thereby preventing their accumulation during interphase., [UniProtKB, PubMed]; The human RFPL1,2,3 genes have a role in neocortex development, [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": 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": "Q6IC06;Q9UJ97", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0010468 regulation of gene expression;GO:0010972 negative regulation of G2/M transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "O75677-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02753-1", "uniprot_id": [ { "id": "RET4_HUMAN", "url": "https://www.uniprot.org/uniprot/P02753", "type": "external" } ], "mass": 23010.0, "length": 201, "protein_name": "Retinol-binding protein 4", "gene_name": "RBP4", "organism": "Human", "refseq_name": "retinol-binding protein 4 isoform a precursor", "refseq_ac": [ { "id": "NP_001310446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310446", "type": "external" } ], "gene_names_uniprotkb": "RBP4; PRO2222", "gene_names_refseq": "MCOPCB10; RBP4; RDCCAS", "protein_names_uniprotkb": "Retinol-binding protein 4; PRBP; Plasma retinol-binding protein; RBP", "protein_names_refseq": "PRBP; RBP; plasma retinol-binding protein; retinol binding protein 4, plasma; retinol-binding protein 4 isoform a precursor; retinol-binding protein 4, interstitial", "tax_id": 9606, "disease": "colon adenoma (Disease Ontology:DOID:0050912); pre-eclampsia (Disease Ontology:DOID:10591); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); diabetic angiopathy (Disease Ontology:DOID:11713); gestational diabetes (Disease Ontology:DOID:11714); dilated cardiomyopathy (Disease Ontology:DOID:12930); severe pre-eclampsia (Disease Ontology:DOID:13129); proliferative diabetic retinopathy (Disease Ontology:DOID:13207); familial hypercholesterolemia (Disease Ontology:DOID:13810); atherosclerosis (Disease Ontology:DOID:1936); hyperinsulinism (Disease Ontology:DOID:2018); gallbladder cancer (Disease Ontology:DOID:3121); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); systemic scleroderma (Disease Ontology:DOID:418); liver cirrhosis (Disease Ontology:DOID:5082); acute pyelonephritis (Disease Ontology:DOID:559); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); chronic kidney disease (Disease Ontology:DOID:784); psoriasis (Disease Ontology:DOID:8893); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); progressive retinal dystrophy due to retinol transport defect (MONDO:MONDO:0014060); microphthalmia, isolated, with coloboma 10 (MONDO:MONDO:0014635)", "pathway": " (hsa:5950); (R-HSA-2453902); (R-HSA-6809583); (R-HSA-975634); (R-HSA-9918449)", "pathway_count": 5, "publication_count": 102, "publication_id_list": "10052934;10075733;10232633;10617778;10753906;10769148;11060341;11123914;11181758;11237011;11274389;12036956;12177057;12237133;12407145;12716133;1279089;15314061;15358783;1542003;15471866;15583000;15865448;16200213;1623143;16939223;17255476;17273977;17525477;17644776;18087047;18295589;18460466;18507396;1856611;19014918;19021760;19049981;19139408;19213032;1925597;19309693;20192770;21106934;21493626;21774515;21851338;2217163;22665496;2303470;23189188;24106281;2444024;2542268;25910211;2793848;29242379;29314611;2998779;3170584;32350084;32983136;34357683;35251023;3714052;37587250;37858746;38171813;38520616;38671384;3942763;4345202;5057882;5315589;5541771;5675424;573217;6288450;6316270;6342691;6420172;6512705;6540172;6589631;6679757;6942701;6961410;7666002;7683668;7754382;7929238;8017323;8105993;8384721;8728311;8884265;9490294;9541407;9703434;9888420;9920938;9925661", "class_list": "", "function": "Are variants of the RBP4 gene associated with serum retinol-binding protein 4 concentrations and carotid intima-media thickness values in women with obesity?, [RefSeq, PubMed]; Does Retinol-Binding Protein 4 (holo- and apo-RBP4) Increase or Remain Constant in Sera from Patients with Hypothyroidism?, [RefSeq, PubMed]; Retinol and retinol binding protein 4 levels and COVID-19: a Mendelian randomization study. Publication Status: Online-Only, [RefSeq, PubMed]; Retinol binding protein 4 and type 2 diabetes: from insulin resistance to pancreatic beta-cell function. Review article, [RefSeq, PubMed]; Retinol-binding protein that mediates retinol transport in blood plasma (PubMed:5541771). Delivers retinol from the liver stores to the peripheral tissues (Probable). Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane (PubMed:22665496)., [UniProtKB, PubMed, PubMed]; Retinol-binding protein that mediates retinol transport in blood plasma. Delivers retinol from the liver stores to the peripheral tissues. Transfers the bound all-trans retinol to STRA6, that then facilitates retinol transport across the cell membrane., [UniProtKB, UniProtKB]; Targeting Retinol-Binding Protein 4 (RBP4) in the Management of Cardiometabolic Diseases. Review article, [RefSeq, PubMed]; This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [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": 27, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DR38;O43478;O43479;Q5VY24;Q8WWA3;Q9P178", "ec_number_list": [], "go_molecular_function": "GO:0019841 retinol binding;GO:0044877 protein-containing complex binding;GO:0016918 retinal binding;GO:0034632 retinol transmembrane transporter activity;GO:1904768 all-trans-retinol binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0032991 protein-containing complex", "go_biological_process": "GO:0060059 embryonic retina morphogenesis in camera-type eye;GO:0001523 retinoid metabolic process;GO:0007507 heart development;GO:0032024 positive regulation of insulin secretion;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "P02753-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04090-1", "uniprot_id": [ { "id": "REL2_HUMAN", "url": "https://www.uniprot.org/uniprot/P04090", "type": "external" } ], "mass": 21043.0, "length": 185, "protein_name": "Prorelaxin H2", "gene_name": "RLN2", "organism": "Human", "refseq_name": "prorelaxin H2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_005050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005050", "type": "external" } ], "gene_names_uniprotkb": "RLN2", "gene_names_refseq": "H2-RLX; H2; RLN2; RLXH2; bA12D24.1.1; bA12D24.1.2", "protein_names_uniprotkb": "Prorelaxin H2", "protein_names_refseq": "H2-preprorelaxin; prorelaxin H2 isoform 2 precursor; prorelaxin H2; relaxin H2; relaxin, ovarian, of pregnancy", "tax_id": 9606, "disease": "", "pathway": " (hsa:6019); (R-HSA-418555); (R-HSA-444821)", "pathway_count": 3, "publication_count": 84, "publication_id_list": "10601981;11007482;11237011;12036966;12058044;12106601;12180353;12506116;12860470;13549488;14522967;14522968;14671004;1517224;15525639;1572287;15765929;15769620;15951850;16313925;1656049;16687412;16923326;17168849;18044684;18577758;19105585;19876791;19929708;20381629;2040595;2076464;21036126;2163110;2417744;24687066;2491850;2553411;2553705;25880248;26417854;26992070;28218747;2871555;28832583;28834231;29242379;29443750;29602314;30315122;30833991;31101669;3127824;31279028;31399091;31844290;31983287;32226383;32357974;32497535;32540603;32618402;32715661;33049737;33298915;33392160;33717175;33912179;34087483;34357683;34561969;35051231;35657397;36947362;37142649;6085243;6548702;8340388;8514797;8672451;8735594;9263355;9417641;9651336", "class_list": "", "function": "Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix., [UniProtKB]; Relaxin-2 during pregnancy according to glycemia, continence status, and pelvic floor muscle function., [RefSeq, PubMed]; The dual and multifaceted role of relaxin-2 in cancer. Review article, [RefSeq, PubMed]; The role of breast milk beta-endorphin and relaxin-2 on infant colic., [RefSeq, PubMed]; This gene encodes a member of the relaxin subfamily and insulin superfamily of peptide hormones. In humans there are three non-allelic relaxin genes. This gene encodes multiple protein isoforms, at least one of which undergoes proteolytic processing. This processing generates relaxin A and B chains that are linked by disulfide bonds to form the mature peptide hormone. This hormone plays a role in the male and female reproductive systems and was initially noted for its role in pregnancy. This protein also plays broader roles in the cardiovascular system, including in the regulation of blood pressure and control of heart rate, and data from animal models shows that this protein may have anti-fibrotic and cardioprotective effects. [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": "A0AVM0;Q99936;Q9UCX3;Q9UQJ2", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0045766 positive regulation of angiogenesis;GO:0007565 female pregnancy;GO:0050790 regulation of catalytic activity", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P04090-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35243-1", "uniprot_id": [ { "id": "RECO_HUMAN", "url": "https://www.uniprot.org/uniprot/P35243", "type": "external" } ], "mass": 23130.0, "length": 200, "protein_name": "Recoverin", "gene_name": "RCVRN", "organism": "Human", "refseq_name": "recoverin", "refseq_ac": [ { "id": "NP_002894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002894", "type": "external" } ], "gene_names_uniprotkb": "RCVRN; RCV1", "gene_names_refseq": "RCV1; RCVRN", "protein_names_uniprotkb": "Recoverin; Cancer-associated retinopathy protein; Protein CAR", "protein_names_refseq": "cancer associated retinopathy antigen; cancer-associated retinopathy protein; recoverin", "tax_id": 9606, "disease": "", "pathway": " (hsa:5957); (R-HSA-2514859)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10037746;10051575;10564809;10676965;11292825;11601986;11687658;11713293;11754336;12036349;12119397;12499365;12825937;1356371;1379636;1387789;1388144;1436039;14702087;15946941;16274222;16895762;16908407;17114291;17636946;18803695;19818506;1999465;20430952;20975703;21697133;22658984;2540796;2550422;2558719;26584024;26813565;3006923;30779550;31288444;3164688;31658639;31844290;32043815;32983136;35580925;36215666;4772407;6264430;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8494894;8500558;8626439;8706659;8812493;8912538;9119368;9353336;9430683;9459445;9506952", "class_list": "", "function": "Acts as a calcium sensor and regulates phototransduction of cone and rod photoreceptor cells (By similarity). Modulates light sensitivity of cone photoreceptor in dark and dim conditions (By similarity). In response to high Ca(2+) levels induced by low light levels, prolongs RHO/rhodopsin activation in rod photoreceptor cells by binding to and inhibiting GRK1-mediated phosphorylation of RHO/rhodopsin (By similarity). Plays a role in scotopic vision/enhances vision in dim light by enhancing signal transfer between rod photoreceptors and rod bipolar cells (By similarity). Improves rod photoreceptor sensitivity in dim light and mediates response of rod photoreceptors to facilitate detection of change and motion in bright light (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Crystal Structure of Recoverin with Calcium Ions Bound to Both Functional EF Hands., [RefSeq, PubMed]; High RCVRN expression is associated with renal tumors., [RefSeq, PubMed]; Recoverin (Rec) is a prototypical calcium sensor protein primarily expressed in the vertebrate retina. The binding of two Ca(2+) ions to the functional EF-hand motifs induces the extrusion of a myristoyl group that increases the affinity of Rec for the membrane and leads to the formation of a complex with rhodopsin kinase (GRK1). Publication Status: Online-Only, [RefSeq, PubMed]; Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer., [RefSeq, PubMed]; These data confirm the scaffolding function of several cluster-forming residues and point to their critical role in supporting physiological activity of recoverin Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the recoverin family of neuronal calcium sensors. The encoded protein contains three calcium-binding EF-hand domains and may prolong the termination of the phototransduction cascade in the retina by blocking the phosphorylation of photo-activated rhodopsin. Recoverin may be the antigen responsible for cancer-associated retinopathy. [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": 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": "Q53XL0", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0008048 calcium sensitive guanylate cyclase activator activity", "go_cellular_component": "GO:0030425 dendrite;GO:0043204 perikaryon;GO:0001917 photoreceptor inner segment;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0007165 signal transduction;GO:0007601 visual perception;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P35243-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L804-1", "uniprot_id": [ { "id": "RFIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L804", "type": "external" } ], "mass": 58279.0, "length": 512, "protein_name": "Rab11 family-interacting protein 2", "gene_name": "RAB11FIP2", "organism": "Human", "refseq_name": "rab11 family-interacting protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001317096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317096", "type": "external" } ], "gene_names_uniprotkb": "RAB11FIP2; KIAA0941", "gene_names_refseq": "RAB11FIP2; Rab11-FIP2; nRip11", "protein_names_uniprotkb": "Rab11 family-interacting protein 2; NRip11; Rab11-FIP2", "protein_names_refseq": "RAB11 family interacting protein 2 (class I); rab11 family-interacting protein 2 isoform 2; rab11 family-interacting protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22841); (R-HSA-432040)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10649434;11034202;11076974;11495908;11944901;11968001;11994279;12194985;12364336;12470645;12801959;1373524;14514735;14592814;14701836;1510932;15173169;15304524;1534149;15703994;16120822;16251358;16407073;16407156;16775013;16905101;17156409;17178220;18202181;18452278;18511455;18669648;18678926;19144687;19170255;19383790;19413330;19542231;19574955;23186163;26032412;26768311;27846572;28834231;29557506;2991279;30379171;3049610;30779550;30883606;3104109;31848261;31937595;31998317;32157095;32387766;32502341;32938616;33298915;33968037;34509645;35051231;4065330;7503232;7510718;7526388;7535000;7538665;7678419;8063828;8140421;8621513;8683474;8855281;9227644;9369468;9374639;9374640;9756892;9829975", "class_list": "", "function": "A Rab11 effector binding preferentially phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and phosphatidic acid (PA) and acting in the regulation of the transport of vesicles from the endosomal recycling compartment (ERC) to the plasma membrane. Involved in insulin granule exocytosis. Also involved in receptor-mediated endocytosis and membrane trafficking of recycling endosomes, probably originating from clathrin-coated vesicles. Required in a complex with MYO5B and RAB11 for the transport of NPC1L1 to the plasma membrane. Also acts as a regulator of cell polarity. Plays an essential role in phagocytosis through a mechanism involving TICAM2, RAC1 and CDC42 Rho GTPases for controlling actin-dynamics., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Rab11-FIP2 functions downstream of Rab11 in endosomal trafficking., [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": 8, "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": "A6NEI4;Q3I768;Q9Y2F0", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005768 endosome;GO:0030659 cytoplasmic vesicle membrane;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0035669 TRAM-dependent toll-like receptor 4 signaling pathway;GO:0043547 positive regulation of GTPase activity;GO:0045055 regulated exocytosis;GO:0006909 phagocytosis;GO:1903078 positive regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q7L804-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N443-1", "uniprot_id": [ { "id": "RIBC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N443", "type": "external" } ], "mass": 44015.0, "length": 379, "protein_name": "RIB43A-like with coiled-coils protein 1", "gene_name": "RIBC1", "organism": "Human", "refseq_name": "RIB43A-like with coiled-coils protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001026915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026915", "type": "external" } ], "gene_names_uniprotkb": "RIBC1", "gene_names_refseq": "2610028I09Rik; RIBC1", "protein_names_uniprotkb": "RIB43A-like with coiled-coils protein 1", "protein_names_refseq": "RIB43A-like with coiled-coils protein 1 isoform 1; RIB43A-like with coiled-coils protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:158787)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;32157095;32350084;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": 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": "B4E297;E9PDU2;Q5H931;Q96A80", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036126 sperm flagellum;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N443-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y490-1", "uniprot_id": [ { "id": "TLN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y490", "type": "external" } ], "mass": 269767.0, "length": 2541, "protein_name": "Talin-1", "gene_name": "TLN1", "organism": "Human", "refseq_name": "talin-1", "refseq_ac": [ { "id": "NP_006280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006280", "type": "external" } ], "gene_names_uniprotkb": "TLN1; KIAA1027; TLN", "gene_names_refseq": "ILWEQ; TLN1; TLN; talin-1", "protein_names_uniprotkb": "Talin-1", "protein_names_refseq": "talin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7094); (R-HSA-114608); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-381038); (R-HSA-399955); (R-HSA-445355); (R-HSA-5674135); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-9649948); (R-HSA-9656223); (R-HSA-9856530)", "pathway_count": 16, "publication_count": 398, "publication_id_list": "10209122;10320340;10376603;10409742;10446041;10601334;10610730;10639123;10649434;10679438;10725339;10764742;10777559;10827079;10891492;10896934;10934324;10964917;10991994;11242081;11325826;11457814;11476890;11532985;11802164;11802165;11853546;11889009;11940607;11968001;12005431;12048254;12068308;12176338;12204115;12422220;12473654;12473660;12479806;12585966;12640026;12724311;12832465;1435334;14506282;14627618;14630798;14636584;14754902;14970219;14978097;15004565;15035987;15070891;15118098;15157149;15239952;15260967;15297306;15304325;15334074;15377279;15466936;15469846;15520807;15543157;15547943;15592455;15630448;156362;15718470;15944288;16005629;16040750;16076873;16115959;16135787;16216671;16286926;16364920;16461360;16508002;16539657;16581250;16702958;16757337;16780920;16879721;16919435;16930978;17018604;17055381;17074750;17081983;17145850;17178906;17218263;1722201;17496912;17547437;17563371;17603482;17603483;17624957;18083107;18088087;18287029;18342854;18434644;18452278;18559533;18562239;18664523;18669648;18710921;18974108;18974361;18991276;19020623;19091303;19219045;19242111;19279408;1930128;19363486;19380584;19415658;19467855;19608861;19651622;19690332;19723632;19901323;19933846;20052757;20068231;20112406;20130576;20141835;20166139;20179705;20526349;20818844;20858867;21107323;21282569;21406692;21424530;21514245;21639808;21768292;21779496;21784453;21993244;22043453;22113612;22177953;22292133;22356324;22395615;22421042;22424782;22510884;22544926;22569528;22589270;22645359;22706990;22745804;22778174;22826437;22898188;23171796;23186163;23288408;23352452;23453624;23481700;23583981;23614898;23640497;23667175;23680146;23783831;23834404;23875798;23934108;24029068;24121058;24135138;24202393;24275569;24345920;24366607;24651010;24714562;24715725;24746704;24793790;24872348;24937142;24957944;25121749;25195011;25204415;2526655;25313996;25367160;25418920;25435214;25502872;25505266;25576301;25645385;25880248;25892735;25907612;26024233;26154972;26214590;26362469;26375851;26728094;26768311;26811146;26853435;26929215;26992070;27090790;27227380;27397612;27452731;27543614;27566546;27600516;2764880;27679490;27726376;27797339;27846572;27862975;27895300;27920218;28063628;28218747;28228285;28251419;28446606;28467828;28514659;28657654;28741090;28832583;28834231;28904123;28939558;29069646;29242379;29314611;29317506;29331515;29393594;29437277;29467321;29493099;29508533;29557506;29632046;29632711;29769354;29774024;29786170;29789417;30034615;30315122;30410026;30429286;30484775;30524438;30587575;30626607;30779550;30794926;30833945;31020640;31092671;31108958;31154438;31205027;31217245;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32296767;32350084;32357974;32387766;32488085;32502341;3287375;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34229054;34357683;34405274;34433824;34499618;34509645;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35494241;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37395213;37460470;3780718;37938771;38254102;38665916;38863696;39302247;40596516;40914422;6457647;7513017;7565670;7565795;7590364;7731720;7876172;7929275;7935411;7997267;8051079;8157000;8467233;8621540;8631894;8649368;8666242;8700127;8755247;8858389;9020159;9029102;9037597;9351824;9450183;9473480;9481611;9566877;9598563;9600334;9620797;9733512;9855623;9858547", "class_list": "", "function": "BCKDK regulates breast cancer cell adhesion and tumor metastasis by inhibiting TRIM21 ubiquitinate talin1. Publication Status: Online-Only, [RefSeq, PubMed]; HDAC1/2 control mesothelium/ovarian cancer adhesive interactions impacting on Talin-1-alpha5beta1-integrin-mediated actin cytoskeleton and extracellular matrix protein remodeling. Publication Status: Online-Only, [RefSeq, PubMed]; High molecular weight cytoskeletal protein concentrated at regions of cell-matrix and cell-cell contacts. Involved in connections of major cytoskeletal structures to the plasma membrane. With KANK1 co-organize the assembly of cortical microtubule stabilizing complexes (CMSCs) positioned to control microtubule-actin crosstalk at focal adhesions (FAs) rims., [UniProtKB, UniProtKB]; Integrin activating molecule-talin1 promotes skin fibrosis in systemic sclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Talin1 regulates glucose metabolism and endometrial receptivity via GLUT-4 in patients with polycystic ovary syndrome and insulin resistance., [RefSeq, PubMed]; This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [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": 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": 33, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "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": "A0A1S5UZ07;A6NMY0;Q86YD0;Q9NZQ2;Q9UHH8;Q9UPX3", "ec_number_list": [], "go_molecular_function": "GO:0005178 integrin binding;GO:0005200 structural constituent of cytoskeleton;GO:0051015 actin filament binding;GO:0045296 cadherin binding;GO:0017166 vinculin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005912 adherens junction", "go_biological_process": "GO:0051893 regulation of focal adhesion assembly;GO:0007229 integrin-mediated signaling pathway;GO:0030036 actin cytoskeleton organization;GO:0098609 cell-cell adhesion;GO:0070527 platelet aggregation", "synthesized_glycan_count": 0, "hit_score": 40.5, "record_id": "Q9Y490-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54317-1", "uniprot_id": [ { "id": "LIPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P54317", "type": "external" } ], "mass": 51961.0, "length": 469, "protein_name": "Pancreatic lipase-related protein 2", "gene_name": "PNLIPRP2", "organism": "Human", "refseq_name": "pancreatic lipase-related protein 2 precursor", "refseq_ac": [ { "id": "NP_005387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005387", "type": "external" } ], "gene_names_uniprotkb": "PNLIPRP2; PLRP2", "gene_names_refseq": "PLRP2; PNLIPRP2", "protein_names_uniprotkb": "Pancreatic lipase-related protein 2; 3.1.1.26; 3.1.1.3; Cytotoxic T lymphocyte lipase; Galactolipase; PL-RP2; Triacylglycerol lipase", "protein_names_refseq": "cytotoxic T lymphocyte lipase; galactolipase; pancreatic lipase-related protein 2 precursor; pancreatic lipase-related protein 2; triacylglycerol lipase", "tax_id": 9606, "disease": "", "pathway": " (hsa:5408); (R-HSA-192456); (R-HSA-9925561)", "pathway_count": 3, "publication_count": 23, "publication_id_list": "10358049;10674344;11040182;1379598;15287741;16385451;17401110;18702514;19451396;19824014;20083229;20445095;21652702;21865348;2318975;23732775;26494624;27662254;29557506;30408063;38081381;7350912;7350913", "class_list": "", "function": "Findings show that endosomal lipases participate in lipid antigen presentation by processing lipid antigens and have a role in T cell immunity against mycobacteria, [RefSeq, PubMed]; Investigation of the substrate specificity of purified recombinant pancreatic lipase-related protein 2 reveals that its physiological role is digestion of galactolipids, the main plant lipids present in the vegetables which are a part of the human diet., [RefSeq, PubMed]; Lipase that primarily hydrolyzes triglycerides and galactosylglycerides (PubMed:15287741, PubMed:17401110, PubMed:18702514, PubMed:19451396, PubMed:20083229, PubMed:21865348, PubMed:26494624). In neonates, may play a major role in pancreatic digestion of dietary fats such as milk fat globules enriched in long-chain triglycerides (PubMed:19824014, PubMed:21652702, PubMed:23732775). Hydrolyzes short-, medium- and long-chain fatty acyls in triglycerides without apparent positional specificity (PubMed:15287741, PubMed:17401110, PubMed:18702514, PubMed:21652702, PubMed:21865348). Can completely deacylate triacylglycerols (PubMed:21865348). When the liver matures and bile salt synthesis increases, likely functions mainly as a galactolipase and monoacylglycerol lipase. Hydrolyzes monogalactosyldiglycerols (MGDG) and digalactosyldiacylglycerols (DGDG) present in a plant-based diet, releasing long-chain polyunsaturated fatty acids (PubMed:15287741, PubMed:17401110, PubMed:18702514, PubMed:20083229, PubMed:26494624). Hydrolyzes medium- and long-chain fatty acyls in galactolipids (PubMed:18702514, PubMed:20083229). May act together with LIPF to hydrolyze partially digested triglycerides (PubMed:23732775). Hydrolyzes long-chain monoglycerides with high efficiency (PubMed:17401110, PubMed:21652702, PubMed:23732775). In cytotoxic T cells, contributes to perforin-dependent cell lysis, but is unlikely to mediate direct cytotoxicity (By similarity). Also has low phospholipase activity (PubMed:17401110, PubMed:18702514). In neurons, required for the localization of the phospholipid 1-oleoyl-2-palmitoyl-PC (OPPC) to neurite tips through acyl chain remodeling of membrane phospholipids (By similarity). The resulting OPPC-rich lipid membrane domain recruits the t-SNARE protein STX4 by selectively interacting with the STX4 transmembrane domain and this promotes surface expression of the dopamine transporter SLC6A3/DAT at neurite tips by facilitating fusion of SLC6A3-containing transport vesicles with the plasma membrane (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pancreatic lipase and its related proteins: where are we now? Review article, [RefSeq, PubMed]; This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele. [provided by RefSeq, Aug 2015]., [RefSeq]; We analyzed mRNA expression in human pancreatic cDNA samples and found the variant allele markedly reduced. We conclude that the p.W358X truncation variant of PNLIPRP2 is expressed poorly and has no significant effect on the risk of chronic pancreatitis 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": 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": 1, "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": "A0A075B781;A8K627;Q6IB55", "ec_number_list": [ { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "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": "3.1.1.32", "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": "3.4.21.35", "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": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "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": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "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": "3.1.1.116", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.116", "type": "external" }, { "id": "3.4.21.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.2", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0004620 phospholipase activity;GO:0047372 monoacylglycerol lipase activity;GO:0005509 calcium ion binding;GO:0008970 phospholipase A1 activity;GO:0004806 triacylglycerol lipase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0043005 neuron projection;GO:0042589 zymogen granule membrane", "go_biological_process": "GO:0034638 phosphatidylcholine catabolic process;GO:0006641 triglyceride metabolic process;GO:0006633 fatty acid biosynthetic process;GO:0009395 phospholipid catabolic process;GO:0034375 high-density lipoprotein particle remodeling", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P54317-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13368-1", "uniprot_id": [ { "id": "MPP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13368", "type": "external" } ], "mass": 66152.0, "length": 585, "protein_name": "MAGUK p55 subfamily member 3", "gene_name": "MPP3", "organism": "Human", "refseq_name": "MAGUK p55 subfamily member 3 isoform 2", "refseq_ac": [ { "id": "NP_001317162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317162", "type": "external" } ], "gene_names_uniprotkb": "MPP3; DLG3", "gene_names_refseq": "DLG3; MPP3", "protein_names_uniprotkb": "MAGUK p55 subfamily member 3; Discs large homolog 3; Protein MPP3", "protein_names_refseq": "MAGUK p55 subfamily member 3 isoform 2; MAGUK p55 subfamily member 3; discs, large homolog 3; membrane palmitoylated protein 3; membrane protein palmitoylated 3; membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)", "tax_id": 9606, "disease": "", "pathway": " (hsa:4356)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;13679854;16519681;24503895;25268382;25780926;26992070;28228285;32938616;33981976;34171305;35051231;35580925;8824795", "class_list": "", "function": "A central role of CADM1 in stabilizing the complex with 4.1B and MPP3 Publication Status: Online-Only, [RefSeq, PubMed]; MPP3, a human homologue of a Drosophila tumor suppressor gene (Discs large), associates with TSCL1, a tumor suppressor gene. Erratum:[Oncogene. 2004 Jan 15;23(2):629. Masvuda Maria [corrected to Masuda Maria]], [RefSeq, PubMed]; Participates in cell spreading through the phosphoinositide-3-kinase (PI3K) pathway by connecting CADM1 to DLG1 and the regulatory subunit of phosphoinositide-3-kinase (PI3K) (PubMed:24503895). Stabilizes HTR2C at the plasma membrane and prevents its desensitization. May participates in the maintenance of adherens junctions (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; These data implicate a role for MPP3 in photoreceptor polarity and, by association with MPP5, pinpoint MPP3 as a functional candidate gene for inherited retinopathies., [RefSeq, PubMed]; This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0A0C4DGP3;B2R7N0;D3DX47;Q4GX05;Q6PGR3;Q86SV1", "ec_number_list": [], "go_molecular_function": "GO:0030165 PDZ domain binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0005912 adherens junction;GO:0016324 apical plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q13368-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12883-1", "uniprot_id": [ { "id": "MYH7_HUMAN", "url": "https://www.uniprot.org/uniprot/P12883", "type": "external" } ], "mass": 223097.0, "length": 1935, "protein_name": "Myosin-7", "gene_name": "MYH7", "organism": "Human", "refseq_name": "myosin-7", "refseq_ac": [ { "id": "NP_000248", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000248", "type": "external" } ], "gene_names_uniprotkb": "MYH7; MYHCB", "gene_names_refseq": "CMD1S; CMH1; CMYO7A; CMYO7B; CMYP7A; CMYP7B; MPD1; MYH7; MYHCB; SPMD; SPMM", "protein_names_uniprotkb": "Myosin-7; MyHC-beta; MyHC-slow; Myosin heavy chain 7; Myosin heavy chain slow isoform; Myosin heavy chain, cardiac muscle beta isoform", "protein_names_refseq": "cardiac muscle myosin heavy chain 7 beta; myHC-beta; myhc-slow; myosin 7; myosin heavy chain beta-subunit; myosin, heavy chain 7, cardiac muscle, beta; myosin, heavy polypeptide 7, cardiac muscle, beta; myosin-7; rhabdomyosarcoma antigen MU-RMS-40.7A", "tax_id": 9606, "disease": "distal arthrogryposis (Disease Ontology:DOID:0050646); cardiomyopathy (Disease Ontology:DOID:0050700); intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); distal myopathy 1 (Disease Ontology:DOID:0070197); familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); congenital myopathy 6 (Disease Ontology:DOID:0080719); spondylocarpotarsal synostosis syndrome (Disease Ontology:DOID:0090116); hypertrophic cardiomyopathy 1 (Disease Ontology:DOID:0110307); dilated cardiomyopathy 1S (Disease Ontology:DOID:0110454); autosomal recessive hyaline body myopathy (Disease Ontology:DOID:0111268); autosomal dominant hyaline body myopathy (Disease Ontology:DOID:0111269); distal arthrogryposis type 1 (Disease Ontology:DOID:0111596); distal arthrogryposis type 2B3 (Disease Ontology:DOID:0111602); distal arthrogryposis type 2A (Disease Ontology:DOID:0111605); hypertension (Disease Ontology:DOID:10763); heart disease (Disease Ontology:DOID:114); distal myopathy (Disease Ontology:DOID:11720); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); hypothyroidism (Disease Ontology:DOID:1459); congenital heart disease (Disease Ontology:DOID:1682); myotonia congenita (Disease Ontology:DOID:2106); inclusion body myositis (Disease Ontology:DOID:3429); restrictive cardiomyopathy (Disease Ontology:DOID:397); myopathy (Disease Ontology:DOID:423); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); hypoplastic left heart syndrome (Disease Ontology:DOID:9955)", "pathway": " (hsa:4625)", "pathway_count": 1, "publication_count": 122, "publication_id_list": "10065021;10329202;10521296;10563488;10679957;10862102;10996847;11106718;11113006;11133230;11214007;11237011;11424919;11733062;11861413;11968089;12081993;12379228;12566107;12590187;12707239;12818575;12820698;12951062;12974739;12975413;1417858;14520662;15136674;15322983;15358028;15483641;1552912;15563892;15769782;15829403;15856146;15858117;16199542;16267253;1638703;16650083;16684601;1691980;16938236;17095604;17287340;17336526;17372140;17548557;18175163;18403758;18506004;1975517;20068231;20682791;20847312;21127202;21846512;2249844;22544926;23271734;2362820;2421254;24715725;25182012;2522082;25418920;25576301;25645385;25666907;26150528;26246073;26573747;26929215;2726733;27862975;29557506;2969919;3021460;30315122;3032769;3037493;30620550;31154438;31844290;31848261;31998317;32387766;32983136;33043033;33936100;34087483;34509645;35051231;35251023;35580925;36215666;36284347;37217939;38538344;38683993;39237976;7581410;7731997;7848441;7874131;7909436;8250038;8254035;8268932;8282798;8343162;8435239;8483915;8514894;8533830;8655135;8899546;9544842;9822100;9829907", "class_list": "", "function": "A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy., [RefSeq, PubMed]; Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration. Erratum:[Proc Natl Acad Sci U S A. 2024 Jun 25;121(26):e2410753121. doi: 10.1073/pnas.2410753121. PMID: 38885393], [RefSeq, PubMed]; Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022]., [RefSeq]; Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle., [UniProtKB, 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 88, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 28, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2TDB6;B6D424;Q14836;Q14837;Q14904;Q16579;Q2M1Y6;Q92679;Q9H1D5;Q9UDA2;Q9UMM8", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0051015 actin filament binding;GO:0000146 microfilament motor activity;GO:0003774 cytoskeletal motor activity", "go_cellular_component": "GO:0005859 muscle myosin complex;GO:0005737 cytoplasm;GO:0001725 stress fiber;GO:0030017 sarcomere;GO:0032982 myosin filament", "go_biological_process": "GO:0031449 regulation of slow-twitch skeletal muscle fiber contraction;GO:0003009 skeletal muscle contraction;GO:0006936 muscle contraction;GO:0030049 muscle filament sliding;GO:0060048 cardiac muscle contraction", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P12883-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NY9-1", "uniprot_id": [ { "id": "MUS81_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NY9", "type": "external" } ], "mass": 61173.0, "length": 551, "protein_name": "Structure-specific endonuclease subunit MUS81", "gene_name": "MUS81", "organism": "Human", "refseq_name": "structure-specific endonuclease subunit MUS81 isoform 2", "refseq_ac": [ { "id": "NP_079404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079404", "type": "external" } ], "gene_names_uniprotkb": "MUS81", "gene_names_refseq": "MUS81; SLX3", "protein_names_uniprotkb": "Structure-specific endonuclease subunit MUS81; 3.1.22.-; Crossover junction endonuclease MUS81; MUS81 endonuclease homolog", "protein_names_refseq": "MUS81 endonuclease homolog; SLX3 structure-specific endonuclease subunit homolog; crossover junction endonuclease MUS81; structure-specific endonuclease subunit MUS81 isoform 2; structure-specific endonuclease subunit MUS81", "tax_id": 9606, "disease": "arterial tortuosity syndrome (Disease Ontology:DOID:0050645); Marfan syndrome (Disease Ontology:DOID:14323); pulmonary emphysema (Disease Ontology:DOID:9675)", "pathway": " (hsa:80198); (R-HSA-5693568); (R-HSA-6783310)", "pathway_count": 3, "publication_count": 98, "publication_id_list": "11237011;11239454;11741546;12374758;12686547;12721304;14527420;14617801;14638871;15572677;15805243;16916645;16943440;17289582;17412408;17460694;17938197;18082604;18174376;18220336;18469862;18669648;18931676;19111657;19561358;19589784;19595721;19596235;19596236;19995904;20102227;20347428;20347429;20385554;20603015;20603016;20603073;20670894;20671156;20965415;21464321;21701511;21764741;22258451;22287633;22396592;22510687;22645308;22692201;23186163;23325218;23481700;23509288;23698467;23723247;23754376;24076221;24371268;24389026;24509834;24623813;24715725;24726325;24733841;24813886;24831703;24905007;25430771;25500724;26154972;28218747;28228285;28575661;28832583;28834231;29242379;29393594;29608566;29850896;31114910;31217245;31844290;31937595;31998317;32157095;32502341;32897882;32938616;33141586;33298915;33592498;33717175;33912179;35051231;35290797;35318648;39015284;39242200", "class_list": "", "function": "Catalytic subunit of two functionally distinct, structure-specific, heterodimeric DNA endonucleases MUS81-EME1 and MUS81-EME2 that are involved in the maintenance of genome stability (PubMed:11741546, PubMed:12374758, PubMed:12686547, PubMed:12721304, PubMed:24371268, PubMed:24733841, PubMed:24813886, PubMed:35290797, PubMed:39015284). Both endonucleases have essentially the same substrate specificity though MUS81-EME2 is more active than its MUS81-EME1 counterpart. Both cleave 3'-flaps and nicked Holliday junctions, and exhibit limited endonuclease activity with 5' flaps and nicked double-stranded DNAs (PubMed:24371268, PubMed:24733841, PubMed:35290797). MUS81-EME2 which is active during the replication of DNA is more specifically involved in replication fork processing (PubMed:24813886). Replication forks frequently encounter obstacles to their passage, including DNA base lesions, DNA interstrand cross-links, difficult-to-replicate sequences, transcription bubbles, or tightly bound proteins. One mechanism for the restart of a stalled replication fork involves nucleolytic cleavage mediated by the MUS81-EME2 endonuclease. By acting upon the stalled fork, MUS81-EME2 generates a DNA double-strand break (DSB) that can be repaired by homologous recombination, leading to the restoration of an active fork (PubMed:24813886). MUS81-EME2 could also function in telomere maintenance (PubMed:24813886). MUS81-EME1, on the other hand, is active later in the cell cycle and functions in the resolution of mitotic recombination intermediates including the Holliday junctions, the four-way DNA intermediates that form during homologous recombination (PubMed:11741546, PubMed:12374758, PubMed:14617801, PubMed:15805243, PubMed:24813886)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; DNA hypermethylation of tumor suppressor genes TWIST1, GATA4, MUS81 and NTRK1 in endometrial hyperplasia., [RefSeq, PubMed]; Interacts with EME1 to form a DNA structure-specific endonuclease with substrate preference for branched DNA structures with a 5'-end at the branch nick. Typical substrates include 3'-flap structures, D-loops, replication forks and nicked Holliday junctions. May be required in mitosis for the processing of stalled or collapsed replication fork intermediates. May be required in meiosis for the repair of meiosis-specific double strand breaks subsequent to single-end invasion (SEI)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mus81-associated endonuclease may play a more direct role in replication fork collapse by catalysing the cleavage of stalled fork structures., [RefSeq, PubMed]; This gene encodes a structure-specific endonuclease which belongs to the XPF/MUS81 endonuclease family and plays a critical role in the resolution of recombination intermediates during DNA repair after inter-strand cross-links, replication fork collapse, and DNA double-strand breaks. The encoded protein associates with one of two closely related essential meiotic endonuclease proteins (EME1 or EME2) to form a complex that processes DNA secondary structures. It contains an N-terminal DEAH helicase domain, an excision repair cross complementation group 4 (ERCC4) endonuclease domain, and two tandem C-terminal helix-hairpin-helix domains. Mice with a homozygous knockout of the orthologous gene have significant meiotic defects including the failure to repair a subset of DNA double strand breaks. [provided by RefSeq, Jun 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "reported_glycation": 0, "reported_snv": 11, "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": "Q9H7D9", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "3.5.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.6", "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.-.-", "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": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "3.1.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.1", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0046872 metal ion binding;GO:0004519 endonuclease activity;GO:0004520 DNA endonuclease activity;GO:0008821 crossover junction DNA endonuclease activity", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0005657 replication fork", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0033687 osteoblast proliferation;GO:0006281 DNA repair;GO:0000723 telomere maintenance;GO:0006302 double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "Q96NY9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G25-1", "uniprot_id": [ { "id": "MED8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G25", "type": "external" } ], "mass": 29080.0, "length": 268, "protein_name": "Mediator of RNA polymerase II transcription subunit 8", "gene_name": "MED8", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 8 isoform 1", "refseq_ac": [ { "id": "NP_001001653", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001653", "type": "external" } ], "gene_names_uniprotkb": "MED8", "gene_names_refseq": "ARC32; MED8", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 8; ARC32; Activator-recruited cofactor 32 kDa component; Mediator complex subunit 8", "protein_names_refseq": "activator-recruited cofactor 32 kDa component; mediator of RNA polymerase II transcription subunit 8 isoform 1; mediator of RNA polymerase II transcription subunit 8; mediator of RNA polymerase II transcription subunit MED8", "tax_id": 9606, "disease": "", "pathway": " (hsa:112950); (R-HSA-1989781); (R-HSA-212436); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 5, "publication_count": 128, "publication_id_list": "10075656;10235266;10235267;10330177;10425206;10777541;11095972;11267664;11395415;11607032;11872672;12118000;12149480;12177166;12213831;12505311;12582161;12584197;12829629;14519192;14976261;15067378;15130092;15175151;15175163;15273253;15635043;15850785;15896744;15919796;15989967;16380219;16606702;16719718;16972786;17011499;17980149;18420935;18452278;18540824;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19369195;19710929;19934321;20068231;20101261;20110263;20410276;2163759;22090124;22424782;22898188;23239344;23481700;24196956;24275569;25418920;25854864;26154972;26992070;27600516;27920218;28218747;28228285;28832583;28834231;29242379;29393594;29437277;29557506;29786170;30410026;30429286;30779550;30833945;31217245;31222486;31844290;31937595;32157095;32265295;32350084;32387766;32488085;32897882;32938616;33141586;33298915;33392160;33936100;33968037;34019948;34087483;34171305;34405274;34509645;34932366;35051231;35251023;35561310;35580925;36010968;36102648;36215666;39894887;7685352;7892212;8183939;8325954;8643605;8647822;8706692;8769649;8770873;8970730;9012850;9065481;9454824;9637681;9653119;9748239;9836620", "class_list": "", "function": "Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May play a role as a target recruitment subunit in E3 ubiquitin-protein ligase complexes and thus in ubiquitination and subsequent proteasomal degradation of target proteins., [UniProtKB]; Mammalian mediator subunit mMED8 is an elongin BC-interacting protein that can assemble with Cul2 and Rbx1 reconstitute a ubiquitin ligase (Ubc5; E2 ubiquitin-conjugating enzyme Ubc5), [RefSeq, PubMed]; This gene encodes a protein component of the mediator complex, which aids in transcriptional activation through interaction with RNA polymerase II and gene-specific transcription factors. The encoded protein may also function in ubiquitin ligation and protein degradation. Alternatively spliced transcript variants encoding multiple isoforms have been observed 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "A9IZ91;A9IZ92;Q5JUY8;Q96FQ4", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016592 mediator complex;GO:0070847 core mediator complex", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0006357 regulation of transcription by RNA polymerase II;GO:0016567 protein ubiquitination;GO:0032968 positive regulation of transcription elongation by RNA polymerase II;GO:0051123 RNA polymerase II preinitiation complex assembly", "synthesized_glycan_count": 0, "hit_score": 13.1, "record_id": "Q96G25-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VI4-3", "uniprot_id": [ { "id": "LAP4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VI4", "type": "external" } ], "mass": 35123.0, "length": 317, "protein_name": "Lysosomal-associated transmembrane protein 4B", "gene_name": "LAPTM4B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "LAPTM4B; PSEC0001", "gene_names_refseq": "", "protein_names_uniprotkb": "Lysosomal-associated transmembrane protein 4B; Lysosome-associated transmembrane protein 4-beta", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:55353)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11230166;12902989;16303743;21224396;22096579;25576301;25588945;25998567;26126825;26280656;27542271;27600516;28479384;29242379;29557506;30484775;31844290;32157095;32387766;32938616;34087483;34171305;34509645;34932366;35051231;35251023;35318648;36010968;36241641;37938771", "class_list": "", "function": "Required for optimal lysosomal function (PubMed:21224396). Blocks EGF-stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation (PubMed:25588945). Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTORC1 activation (PubMed:25998567). Plays a role as negative regulator of TGFB1 production in regulatory T cells (PubMed:26126825). Binds ceramide and facilitates its exit from late endosome in order to control cell death pathways (PubMed:26280656)., [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": 2, "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": "Q3ZCV5;Q7L909;Q86VH8;Q9H060", "ec_number_list": [], "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0031625 ubiquitin protein ligase binding;GO:0019900 kinase binding;GO:0097001 ceramide binding", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0007032 endosome organization;GO:1905166 negative regulation of lysosomal protein catabolic process;GO:0032911 negative regulation of transforming growth factor beta1 production;GO:0032509 endosome transport via multivesicular body sorting pathway;GO:0097213 regulation of lysosomal membrane permeability", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q86VI4-3", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61970-1", "uniprot_id": [ { "id": "NTF2_HUMAN", "url": "https://www.uniprot.org/uniprot/P61970", "type": "external" } ], "mass": 14478.0, "length": 127, "protein_name": "Nuclear transport factor 2", "gene_name": "NUTF2", "organism": "Human", "refseq_name": "nuclear transport factor 2", "refseq_ac": [ { "id": "NP_001308967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308967", "type": "external" } ], "gene_names_uniprotkb": "NUTF2; NTF2", "gene_names_refseq": "NTF-2; NTF2; NUTF2; PP15", "protein_names_uniprotkb": "Nuclear transport factor 2; NTF-2; PP15; Placental protein 15", "protein_names_refseq": "nuclear transport factor 2; placental protein 15", "tax_id": 9606, "disease": "diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:10204)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10679025;11237011;18266911;19608861;25502872;25880248;26154972;26992070;28218747;28467828;28834231;28904123;29242379;29314611;29331515;29393594;29437277;29557506;30315122;30410026;30573663;30779550;31092671;31217245;31844290;32157095;32161166;32350084;32357974;32938616;33043033;33214551;33298915;33392160;33592498;33691108;3380696;33912179;33968037;34019948;34087483;34171305;34229054;34324340;34357683;34880267;34932366;35051231;35154160;35251023;35318648;36010968;36241641;37938771;38665916;7744965", "class_list": "", "function": "DNA-Origami NanoTrap for Studying the Selective Barriers Formed by Phenylalanine-Glycine-Rich Nucleoporins., [RefSeq, PubMed]; Has a role in nuclear-cytoplasmic transport of proteins and mRNAs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Nuclear Transport Factor 2 (NTF2) suppresses WM983B metastatic melanoma by modifying cell migration, metastasis, and gene expression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytosolic factor that facilitates protein transport into the nucleus. The encoded protein is required for nuclear import of the small Ras-like GTPase, Ran which is involved in numerous cellular processes. This protein also interacts with the nuclear pore complex glycoprotein p62. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R4G7;P13662;Q6IB67", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0031267 small GTPase binding;GO:0017056 structural constituent of nuclear pore;GO:0061608 nuclear import signal receptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane;GO:0070062 extracellular exosome;GO:0005637 nuclear inner membrane", "go_biological_process": "GO:0006611 protein export from nucleus;GO:0051028 mRNA transport;GO:0090204 protein localization to nuclear pore;GO:0006606 protein import into nucleus;GO:0006913 nucleocytoplasmic transport", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P61970-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VQ0-1", "uniprot_id": [ { "id": "LCA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VQ0", "type": "external" } ], "mass": 80554.0, "length": 697, "protein_name": "Lebercilin", "gene_name": "LCA5", "organism": "Human", "refseq_name": "lebercilin", "refseq_ac": [ { "id": "NP_001116241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116241", "type": "external" } ], "gene_names_uniprotkb": "LCA5; C6orf152", "gene_names_refseq": "C6orf152; LCA5", "protein_names_uniprotkb": "Lebercilin; Leber congenital amaurosis 5 protein", "protein_names_refseq": "LCA5, lebercilin; epididymis secretory sperm binding protein; leber congenital amaurosis 5 protein; lebercilin", "tax_id": 9606, "disease": "Leber congenital amaurosis 5 (Disease Ontology:DOID:0110215); Leber congenital amaurosis (Disease Ontology:DOID:14791)", "pathway": " (hsa:167691)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "11237011;16082399;17546029;18000884;18334959;18826961;19800048;21606596;22940612;23186163;25576301;26154972;26992070;27862975;28228285;28418496;28832583;29242379;29557506;31844290;31848261;32157095;32502341;32938616;33968037;35318648;36284347", "class_list": "", "function": "Involved in intraflagellar protein (IFT) transport in photoreceptor cilia. Plays a role in the ciliary transport of photoreceptors outer segment proteins., [UniProtKB, UniProtKB, UniProtKB]; Macular coloboma-type LCA shows genetic heterogeneity and it is not possible to establish a phenotype-genotype correlation with LCA5 and macular coloboma., [RefSeq, PubMed]; The LCA5 gene on chromosome 6q14 encodes the ciliary protein lebercilin associated with Leber congenital amaurosis type 5., [RefSeq, PubMed]; This gene encodes a protein that is thought to be involved in centrosomal or ciliary functions. Mutations in this gene cause Leber congenital amaurosis type V. Alternatively spliced transcript variants are described. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E1P542;Q9BWX7", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0032391 photoreceptor connecting cilium", "go_biological_process": "GO:0015031 protein transport;GO:0045494 photoreceptor cell maintenance;GO:0042073 intraciliary transport", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q86VQ0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NNX1-1", "uniprot_id": [ { "id": "RIAD1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NNX1", "type": "external" } ], "mass": 10810.0, "length": 92, "protein_name": "RIIa domain-containing protein 1", "gene_name": "RIIAD1", "organism": "Human", "refseq_name": "RIIa domain-containing protein 1", "refseq_ac": [ { "id": "NP_001138428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138428", "type": "external" } ], "gene_names_uniprotkb": "RIIAD1; C1orf230", "gene_names_refseq": "C1orf230; NCRNA00166; RIIAD1", "protein_names_uniprotkb": "RIIa domain-containing protein 1", "protein_names_refseq": "RIIa domain-containing protein 1; RIIa domain-containing protein C1orf230; RIIa domain-containing protein ENSP00000357824; regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:284485)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;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": 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": "A6NNX1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WSZ0-1", "uniprot_id": [ { "id": "KVD08_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WSZ0", "type": "external" } ], "mass": 12837.0, "length": 117, "protein_name": "Immunoglobulin kappa variable 1D-8", "gene_name": "IGKV1D-8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV1D-8", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 1D-8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11549845;17576170;20176268;22158414;24600447;33691108", "class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 421, "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": 0.7, "record_id": "A0A087WSZ0-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPC1-1", "uniprot_id": [ { "id": "LT4R2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPC1", "type": "external" } ], "mass": 37942.0, "length": 358, "protein_name": "Leukotriene B4 receptor 2", "gene_name": "LTB4R2", "organism": "Human", "refseq_name": "leukotriene B4 receptor 2", "refseq_ac": [ { "id": "NP_001158164", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158164", "type": "external" } ], "gene_names_uniprotkb": "LTB4R2; BLT2R; BLTR2", "gene_names_refseq": "BLT2; BLTR2; JULF2; KPG_004; LTB4-R 2; LTB4-R2; LTB4R2; NOP9", "protein_names_uniprotkb": "Leukotriene B4 receptor 2; LTB4 receptor JULF2; LTB4-R 2; LTB4-R2; Leukotriene B4 receptor BLT2; Seven transmembrane receptor BLTR2", "protein_names_refseq": "LTB4 receptor JULF2; leukotriene B4 receptor 2; leukotriene B4 receptor BLT2; seven transmembrane receptor BLTR2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56413); (R-HSA-391906); (R-HSA-416476)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10191087;10391245;10462554;10567430;10727532;10851239;10861009;10889186;10913346;10934230;11006272;11015615;11237011;11742120;11753430;12044878;12120503;15951850;16182515;16268778;16339447;16754659;16923326;16990797;18434541;18515384;18577758;18936096;1905813;22044535;2543269;2548477;2841328;29557506;3086311;31154438;34635780;34814348;35426793;36429034;7937899;8664309;9177352;9305846;9504401;9770463", "class_list": "", "function": "LTB4R Promotes the Occurrence and Progression of Clear Cell Renal Cell Carcinoma (ccRCC) by Regulating the AKT/mTOR Signaling Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Leukotriene B4 receptor-2 contributes to KRAS-driven lung tumor formation by promoting interleukin-6-mediated inflammation., [RefSeq, PubMed]; Low-affinity receptor for leukotrienes including leukotriene B4. Mediates chemotaxis of granulocytes and macrophages. The response is mediated via G proteins that activate a phosphatidylinositol-calcium second messenger system. The rank order of affinities for the leukotrienes is LTB4 > 12-epi-LTB4 > LTB5 > LTB3., [UniProtKB]; Prognostic and immunological value of LTB4R in pan-cancer., [RefSeq, PubMed]; [Prognostic implications and functional enrichment analysis of LTB4R in patients with acute myeloid leukemia]., [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5KU28;Q9NPE5", "ec_number_list": [], "go_molecular_function": "GO:0008528 G protein-coupled peptide receptor activity;GO:0001632 leukotriene B4 receptor activity;GO:0004974 leukotriene receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006935 chemotaxis;GO:0007194 negative regulation of adenylate cyclase activity;GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9NPC1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDE4-1", "uniprot_id": [ { "id": "RBY1B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDE4", "type": "external" } ], "mass": 55835.0, "length": 496, "protein_name": "RNA-binding motif protein, Y chromosome, family 1 member B", "gene_name": "RBMY1B; RBMY1E", "organism": "Human", "refseq_name": "RNA-binding motif protein, Y chromosome, family 1 member B isoform 1", "refseq_ac": [ { "id": "NP_001006121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006121", "type": "external" } ], "gene_names_uniprotkb": "RBMY1B; RBMY1E; RBMY1A1; RBMY1D; RBMY1E", "gene_names_refseq": "RBMY1B", "protein_names_uniprotkb": "RNA-binding motif protein, Y chromosome, family 1 member B", "protein_names_refseq": "RNA-binding motif protein, Y chromosome, family 1 member B isoform 1; RNA-binding motif protein, Y chromosome, family 1 member B", "tax_id": 9606, "disease": "", "pathway": " (hsa:378948)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;32473614", "class_list": "", "function": "Potential dual functional roles of the Y-linked RBMY in hepatocarcinogenesis., [RefSeq, PubMed]; RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by participating in pre-mRNA splicing in the testis., [UniProtKB]; This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NCZ8;A6NE80;A8MSJ6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0007283 spermatogenesis;GO:0008584 male gonad development;GO:0000398 mRNA splicing, via spliceosome;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NDE4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UIA9-1", "uniprot_id": [ { "id": "XPO7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UIA9", "type": "external" } ], "mass": 123907.0, "length": 1087, "protein_name": "Exportin-7", "gene_name": "XPO7", "organism": "Human", "refseq_name": "exportin-7 isoform b", "refseq_ac": [ { "id": "NP_055839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055839", "type": "external" } ], "gene_names_uniprotkb": "XPO7; KIAA0745; RANBP16", "gene_names_refseq": "EXP7; RANBP16; XPO7", "protein_names_uniprotkb": "Exportin-7; Exp7; Ran-binding protein 16", "protein_names_refseq": "RAN binding protein 16; exportin-7 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:23039)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11024021;11071879;11237011;15282546;18083107;18256292;20068231;22509282;23186163;25576301;25645385;25892735;26154972;26992070;27600516;27846572;28063628;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;30315122;30379171;30833945;31154438;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32938616;33141586;33214551;33298915;33592498;33602872;33717175;33912179;33936100;33968037;34019948;34171305;34357683;34509645;34725712;34932366;35051231;35154160;35251023;35561310;35580925;36010968;36284347;36897256;37000263;38665916;38780091;40914422", "class_list": "", "function": "CRISPR-based screening identifies XPO7 as a positive regulator of senescence., [RefSeq, PubMed]; Exportin 7-dependent nuclear export signals differ fundamentally from the leucine-rich, CRM1-dependent ones, [RefSeq, PubMed]; Exportin XPO7 acts as an oncogenic factor in prostate cancer via upregulation of TCF3., [RefSeq, PubMed]; Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus., [UniProtKB, PubMed, PubMed]; STRADalpha facilitates nuclear export of LKB1 by serving as an adaptor between LKB1 and exportins CRM1 and exportin7., [RefSeq, PubMed]; The GWAS SNP rs80207740 modulates erythrocyte traits via allele-specific binding of IKZF1 and targeting XPO7 gene., [RefSeq, PubMed]; The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-16 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]., [RefSeq]; XPO7 is a tumor suppressor regulating p21(CIP1)-dependent senescence., [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": 0, "reported_glycation": 0, "reported_snv": 21, "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": "O94846;Q6PJK9;Q8NEK7", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0005049 nuclear export signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005737 cytoplasm", "go_biological_process": "GO:0006611 protein export from nucleus;GO:0006886 intracellular protein transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9UIA9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DP57-1", "uniprot_id": [ { "id": "SLUR2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DP57", "type": "external" } ], "mass": 10160.0, "length": 97, "protein_name": "Secreted Ly-6/uPAR domain-containing protein 2", "gene_name": "SLURP2", "organism": "Human", "refseq_name": "secreted Ly-6/uPAR domain-containing protein 2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_803253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_803253", "type": "external" } ], "gene_names_uniprotkb": "SLURP2", "gene_names_refseq": "SLURP-2; SLURP2", "protein_names_uniprotkb": "Secreted Ly-6/uPAR domain-containing protein 2; SLURP-2; Secreted LY6/PLAUR domain-containing protein 2; Secreted Ly-6/uPAR-related protein 2", "protein_names_refseq": "secreted LY6/PLAUR domain-containing protein 2; secreted Ly-6/uPAR domain-containing protein 2 isoform 1 precursor; secreted Ly-6/uPAR domain-containing protein 2; secreted Ly-6/uPAR-related protein 2; secreted Ly6/uPAR related protein 2", "tax_id": 9606, "disease": "palmoplantar keratosis (Disease Ontology:DOID:3390)", "pathway": " (hsa:432355)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;12573258;12975309;16575903;26033490;27485575;29505672", "class_list": "", "function": "Binds and may modulate the functional properties of nicotinic and muscarinic acetylcholine receptors. May regulate keratinocytes proliferation, differentiation and apoptosis. In vitro moderately inhibits ACh-evoked currents of alpha-3:beta-2-containing nAChRs and strongly these of alpha-4:beta-2-containing nAChRs, modulates alpha-7-containing nAChRs, and inhibits nicotine-induced signaling probably implicating alpha-3:beta-4-containing nAChRs. Proposed to act on alpha-3:beta-2 and alpha-7 nAChRs in an orthosteric, and on mAChRs, such as CHRM1 and CHRM3, in an allosteric manner., [UniProtKB, PubMed, PubMed]; Computer modeling revealed possible SLURP-2 binding to the 'classical' orthosteric agonist/antagonist binding sites at alpha7 and alpha3beta2-nAChRs. Publication Status: Online-Only, [RefSeq, PubMed]; SLURPs inhibit growth of epithelial cancer cells in vitro and merit further investigation as potential agents for anticancer therapy, [RefSeq, PubMed]; This gene encodes a novel, secreted member of the Ly6/uPAR (LU) superfamily of proteins containing the unique three-finger LU domain. This gene is mainly expressed in epithelial cells, including skin and keratinocytes, and is up-regulated in psoriatic skin lesions, suggesting its involvement in the pathophysiology of psoriasis. Alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (LYNX1) generates naturally-occurring transcripts (LYNX1-SLURP2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [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": 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": "D3DWI7;G3XAC2;Q86SR0;Q9BZG9", "ec_number_list": [], "go_molecular_function": "GO:0030548 acetylcholine receptor regulator activity;GO:0033130 acetylcholine receptor binding;GO:0030550 acetylcholine receptor inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0095500 acetylcholine receptor signaling pathway;GO:0099601 regulation of neurotransmitter receptor activity", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0DP57-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9L3-1", "uniprot_id": [ { "id": "I20L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9L3", "type": "external" } ], "mass": 39154.0, "length": 353, "protein_name": "Interferon-stimulated 20 kDa exonuclease-like 2", "gene_name": "ISG20L2", "organism": "Human", "refseq_name": "interferon-stimulated 20 kDa exonuclease-like 2", "refseq_ac": [ { "id": "NP_001290024", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290024", "type": "external" } ], "gene_names_uniprotkb": "ISG20L2; HSD-38; HSD38", "gene_names_refseq": "HSD38; ISG20L2", "protein_names_uniprotkb": "Interferon-stimulated 20 kDa exonuclease-like 2; 3.1.-.-", "protein_names_refseq": "interferon stimulated exonuclease gene 20kDa like 2; interferon-stimulated 20 kDa exonuclease-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:81875); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "11922599;12068309;12150911;12429849;16037817;16043514;16738141;17189298;17353269;17412707;18065403;18438418;19106111;19332556;19564402;19801658;20038530;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23439679;23482395;2388630;24424021;24550520;24715725;25525153;25576301;25969445;26237581;26992070;28228285;28832583;28834231;29242379;29493099;29508533;29632711;30394818;30429286;31844290;31848261;32157095;32357974;32387766;32502341;32938616;33298915;33936100;35051231;37646974;38153123;9482744", "class_list": "", "function": "3'-> 5'-exoribonuclease involved in ribosome biogenesis in the processing of the 12S pre-rRNA. Displays a strong specificity for a 3'-end containing a free hydroxyl group., [UniProtKB, PubMed]; ISG20L2 is a 3' to 5' exoribonuclease involved in ribosome biogenesis at the level of 5.8 S rRNA maturation, more specifically in the processing of the 12 S precursor rRNA., [RefSeq, PubMed]; ISG20L2: an RNA nuclease regulating T cell activation. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-139-3p target genes ISG20L2, RAD54B, KIAA0101, and PIGS were significantly negatively correlated with miR-139-3p expression in patients with hepatocellular carcinoma., [RefSeq, PubMed]; Molecular mechanism of human ISG20L2 for the ITS1 cleavage in the processing of 18S precursor ribosomal RNA., [RefSeq, PubMed]; This gene encodes a 3'-5' exoribonuclease that may be involved in the processing of the 12S pre-rRNA. Pseudogenes have been identified on chromosomes 6 and 11. [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": 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": "D3DVC6;Q64KA2", "ec_number_list": [ { "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": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "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:0004527 exonuclease activity;GO:0000175 3'-5'-RNA exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus", "go_biological_process": "GO:0006396 RNA processing;GO:0042254 ribosome biogenesis;GO:0006259 DNA metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9H9L3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01602-1", "uniprot_id": [ { "id": "KV105_HUMAN", "url": "https://www.uniprot.org/uniprot/P01602", "type": "external" } ], "mass": 12782.0, "length": 117, "protein_name": "Immunoglobulin kappa variable 1-5", "gene_name": "IGKV1-5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "IGKV1-5", "gene_names_refseq": "", "protein_names_uniprotkb": "Immunoglobulin kappa variable 1-5; Ig kappa chain V-I region CAR; Ig kappa chain V-I region EU; Ig kappa chain V-I region HK102; Ig kappa chain V-I region Kue", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-166663); (R-HSA-173623); (R-HSA-198933); (R-HSA-202733); (R-HSA-2029481); (R-HSA-2029482); (R-HSA-2029485); (R-HSA-2168880); (R-HSA-2454202); (R-HSA-2730905); (R-HSA-2871796); (R-HSA-2871809); (R-HSA-2871837); (R-HSA-5690714); (R-HSA-9664323); (R-HSA-9664422); (R-HSA-9679191); (R-HSA-977606); (R-HSA-983695)", "pathway_count": 19, "publication_count": 545, "publication_id_list": 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"class_list": "immunoglobin", "function": "V region of the variable domain of immunoglobulin light chains that participates in the antigen recognition (PubMed:24600447). 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]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 545, "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": "A0A075B6S8;P01596;P01598;P01604", "ec_number_list": [], "go_molecular_function": "GO:0003823 antigen binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0072562 blood microparticle;GO:0019814 immunoglobulin complex", "go_biological_process": "GO:0006955 immune response;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 54.6, "record_id": "P01602-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00001", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96CN5-1", "uniprot_id": [ { "id": "LRC45_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96CN5", "type": "external" } ], "mass": 75951.0, "length": 670, "protein_name": "Leucine-rich repeat-containing protein 45", "gene_name": "LRRC45", "organism": "Human", "refseq_name": "leucine-rich repeat-containing protein 45", "refseq_ac": [ { "id": "NP_659436", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659436", "type": "external" } ], "gene_names_uniprotkb": "LRRC45", "gene_names_refseq": "LRRC45", "protein_names_uniprotkb": "Leucine-rich repeat-containing protein 45", "protein_names_refseq": "leucine-rich repeat-containing protein 45", "tax_id": 9606, "disease": "", "pathway": " (hsa:201255)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;17081983;20068231;24035387;25576301;28218747;28904123;29393594;29557506;31530632;31844290;31848261;32357974;32938616;33912179;33968037;34087483;34561969;35051231;35580925;39638757", "class_list": "", "function": "Component of the proteinaceous fiber-like linker between two centrioles, required for centrosome cohesion (PubMed:24035387). Is probably involved in the early stages of ciliogenesis (PubMed:30131441, PubMed:39638757). Plays a role in the organization of centriolar satellites, likely by regulating the accumulation of centriolar satellite proteins, such as PCM1 and SSX2IP, at the centrosome (PubMed:30131441)., [UniProtKB, PubMed]; LRRC45 is a critical component of the proteinaceous linker between two centrioles and is required for centrosome cohesion., [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": 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:0005813 centrosome;GO:0005886 plasma membrane;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0060271 cilium assembly;GO:0120329 protein localization to centriolar satellite", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96CN5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13051-1", "uniprot_id": [ { "id": "UNG_HUMAN", "url": "https://www.uniprot.org/uniprot/P13051", "type": "external" } ], "mass": 34645.0, "length": 313, "protein_name": "Uracil-DNA glycosylase", "gene_name": "UNG", "organism": "Human", "refseq_name": "uracil-DNA glycosylase isoform UNG1 precursor", "refseq_ac": [ { "id": "NP_003353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003353", "type": "external" } ], "gene_names_uniprotkb": "UNG; DGU; UNG15; UNG1", "gene_names_refseq": "DGU; HIGM4; HIGM5; UDG; UNG15; UNG1; UNG2; UNG", "protein_names_uniprotkb": "Uracil-DNA glycosylase; 3.2.2.27; UDG", "protein_names_refseq": "uracil-DNA glycosylase 1, uracil-DNA glycosylase 2; uracil-DNA glycosylase isoform UNG1 precursor", "tax_id": 9606, "disease": "immunodeficiency with hyper IgM type 5 (Disease Ontology:DOID:0060759); dysgammaglobulinemia (Disease Ontology:DOID:11702)", "pathway": " (hsa:7374)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11237011;12958596;15302935;15967827;16964243;17081983;17101234;17287340;18079698;18220336;18452278;18669648;18676834;19413330;19608861;19651622;19664995;19690332;20068231;21406692;22521144;22645359;23186163;23481700;24715725;25418920;2555154;25576301;26154972;26375851;26811146;26992070;27846572;27875297;28228285;28746850;28832583;28904123;29242379;29371260;29437277;29557506;30315122;30833945;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32938616;33141586;33298915;33691108;33717175;33784377;33912179;33936100;33968037;34171305;34211107;34405274;34561969;35051231;35580925;36010968;36241641;36284347;36890276;7671300;7697717;7926048;8551605;8670846;8900285;9016624;9724657;9753728;9776759", "class_list": "", "function": "Excises uracil residues from the DNA which can arise as a result of misincorporation of dUMP residues by DNA polymerase or due to deamination of cytosine., [UniProtKB, UniProtKB, UniProtKB, HAMAP, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]., [RefSeq]; Uracil-DNA glycosylase efficiency is modulated by substrate rigidity. Publication Status: Online-Only, [RefSeq, PubMed]; Uracil-DNA glycosylase that hydrolyzes the N-glycosidic bond between uracil and deoxyribose in single- and double-stranded DNA (ssDNA and dsDNA) to release a free uracil residue and form an abasic (apurinic/apyrimidinic; AP) site. Excises uracil residues arising as a result of misincorporation of dUMP residues by DNA polymerase during replication or due to spontaneous or enzymatic deamination of cytosine (PubMed:12958596, PubMed:15967827, PubMed:17101234, PubMed:22521144, PubMed:7671300, PubMed:8900285, PubMed:9016624, PubMed:9776759). Mediates error-free base excision repair (BER) of uracil at replication forks. According to the model, it is recruited by PCNA to S-phase replication forks to remove misincorporated uracil at U:A base mispairs in nascent DNA strands. Via trimeric RPA it is recruited to ssDNA stretches ahead of the polymerase to allow detection and excision of deaminated cytosines prior to replication. The resultant AP sites temporarily stall replication, allowing time to repair the lesion (PubMed:22521144). Mediates mutagenic uracil processing involved in antibody affinity maturation. Processes AICDA-induced U:G base mispairs at variable immunoglobulin (Ig) regions leading to the generation of transversion mutations (PubMed:12958596). Operates at switch sites of Ig constant regions where it mediates Ig isotype class switch recombination. Excises AICDA-induced uracil residues forming AP sites that are subsequently nicked by APEX1 endonuclease. The accumulation of staggered nicks in opposite strands results in double strand DNA breaks that are finally resolved via non-homologous end joining repair pathway (By similarity) (PubMed:12958596)., [UniProtKB, 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 15, "reported_mutagensis": 29, "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": "A8K5M6;B2R8Y1;O00637;O00719;Q93028", "ec_number_list": [ { "id": "3.2.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.27", "type": "external" } ], "go_molecular_function": "GO:0003684 damaged DNA binding;GO:0043024 ribosomal small subunit binding;GO:0004844 uracil DNA N-glycosylase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006284 base-excision repair;GO:0000012 single strand break repair;GO:0045008 depyrimidination;GO:0097510 base-excision repair, AP site formation via deaminated base removal", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P13051-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13984-1", "uniprot_id": [ { "id": "T2FB_HUMAN", "url": "https://www.uniprot.org/uniprot/P13984", "type": "external" } ], "mass": 28380.0, "length": 249, "protein_name": "General transcription factor IIF subunit 2", "gene_name": "GTF2F2", "organism": "Human", "refseq_name": "general transcription factor IIF subunit 2", "refseq_ac": [ { "id": "NP_004119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004119", "type": "external" } ], "gene_names_uniprotkb": "GTF2F2; RAP30", "gene_names_refseq": "BTF4; GTF2F2; RAP30; TF2F2; TFIIF", "protein_names_uniprotkb": "General transcription factor IIF subunit 2; General transcription factor IIF 30 kDa subunit; TFIIF-beta; Transcription initiation factor IIF subunit beta; Transcription initiation factor RAP30", "protein_names_refseq": "ATP-dependent helicase GTF2F2; TFIIF-beta; general transcription factor IIF 30 kDa subunit; general transcription factor IIF subunit 2; general transcription factor IIF, polypeptide 2, 30kDa; transcription initiation factor IIF subunit beta; transcription initiation factor RAP30", "tax_id": 9606, "disease": "", "pathway": " (hsa:2963); (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-674695); (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-9770562); (R-HSA-9918481)", "pathway_count": 35, "publication_count": 444, "publication_id_list": "10022900;10024882;10199401;10207048;10454543;10500157;10526235;10669729;10723029;10757782;10828826;10866664;10873660;10882114;10916156;10920397;10938105;10982855;10984493;11010967;11014198;11034064;11060040;11101529;11103799;11136970;11165043;11233976;11237011;11313498;11313499;11333026;11345900;11350971;11410592;11433015;11452016;11486021;11581164;11607023;11682626;11739720;11747608;11784853;11856838;11859374;11884399;11971958;11988847;11991638;12072510;12176931;12370301;12393912;12411573;12414730;12414731;12477934;12498683;12574128;12612073;12653964;12676794;12737519;12959972;1310361;14519844;14625303;14631847;14675539;14701750;14701755;14713954;14749727;14762106;15001666;15037765;15084397;15276198;15282324;1531330;15343269;15345050;1535687;15489290;15514030;15565158;15601847;15781865;15986123;15989964;16009131;16046058;16083285;16087863;16113099;16239144;1630819;16308568;16314458;16410617;16449636;16603716;16809785;16901896;16933365;16980581;17013392;17095540;17128255;17132145;17234882;17277772;17332742;1739980;17463000;17495528;17499042;17510434;17525332;17606899;17637753;17666587;17690249;17940139;17959601;18079403;18157150;18187655;18219272;18256232;18288197;1829677;18322460;18322535;18358809;1840667;18476782;18533032;18573884;18593880;18669648;18762174;18805503;19001364;19020303;19052544;1906035;19098913;19103666;19165350;19217410;19274700;19285943;19295514;19321454;19383337;1939271;19536130;19608861;19667075;19718048;19729311;19941815;19952111;20068231;20159561;20219941;20220130;20423332;20457598;20498280;20570965;20682797;20695905;20980672;21106759;21151129;2125285;21295486;21355848;21445275;21536652;21573489;2176635;2181374;21835891;21878914;21896726;21911577;21934649;21940756;22012619;22056668;22110043;22137580;22231121;22252320;22265404;22365833;22441827;22492511;22545144;22704330;22813749;22959432;22961380;22982363;22988298;23145106;23166507;23172872;23192763;23222130;23236153;23303788;23345524;23403292;23435229;23481700;23538671;23723241;23874216;23906331;23932780;24076191;24097444;24149845;24167369;24196718;24270878;24304693;24316715;24354960;24371278;24407421;24448447;2449431;24554720;24662513;24735615;24737827;2477704;24854081;24885040;24914973;24973012;24981863;24997600;24998469;2524422;25296600;25301780;25301781;25365482;25418920;25429106;25433557;25542856;25555158;25561469;2558966;25633194;25645385;25663755;25674852;25675981;25712099;25728767;25880248;26056233;26092250;26153859;26154972;26204489;26385511;26420826;26462610;26479350;26659056;26969736;26992070;27062924;27108190;27193682;27377154;27459055;27510544;27683217;27846572;27886276;28062851;28076346;28096519;2825027;28297668;28502770;28539435;28781166;28834231;28904123;28911096;29186539;2919170;29274231;29301961;29360106;29361316;29437277;2944599;29557506;2963332;29902443;30139799;30257008;30315122;30315277;30379171;30410026;3045126;30599162;30705154;30728453;30765414;30779550;30975767;31092671;31217245;31373491;31409651;31530632;31844290;31998317;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;3281094;32816001;32938616;32983136;33177556;33214551;33243851;33298915;33446560;33592498;33691108;33912179;33936100;33968037;34019948;34171305;34211107;34301950;34822310;3498214;35051231;35177536;35215846;35251023;35289036;35385551;35580925;3677090;3757028;40136647;40596516;40914422;6261960;7151173;7559524;7601352;7660122;7660129;7660130;7715707;7769657;7853496;7935485;7937828;8156590;8195246;8197458;8253082;8330735;8339931;8352591;8370526;8419924;8465201;8490964;8504927;8566756;8608946;8628262;8662660;8668525;8835860;8876171;8946909;9009278;9016565;9063748;9153304;9188510;9201922;9242493;9256425;9271388;9338790;9353262;9388265;9405375;9407024;9409616;9450929;9489704;9512519;9512541;9524131;9539711;9611253;9659921;9671459;9671485;9689043;9701291;9705341;9731529;9731700;9755184;9765293;9790902;9832505;9857195;9858549", "class_list": "", "function": "Data show that TFIIF has an important role in stabilizing TFIIB within the PIC and after transcription initiates., [RefSeq, PubMed]; TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB., [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": 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": 4, "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": "A6NNS5;Q5W0H3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0015630 microtubule cytoskeleton;GO:0005674 transcription factor TFIIF complex", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;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": 44.8, "record_id": "P13984-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UC2-1", "uniprot_id": [ { "id": "RSPH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UC2", "type": "external" } ], "mass": 63687.0, "length": 560, "protein_name": "Radial spoke head protein 3 homolog", "gene_name": "RSPH3", "organism": "Human", "refseq_name": "radial spoke head protein 3 homolog isoform 2", "refseq_ac": [ { "id": "NP_001333347", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333347", "type": "external" } ], "gene_names_uniprotkb": "RSPH3; RSHL2; RSP3", "gene_names_refseq": "CILD32; RSHL2; RSP3; RSPH3; dJ111C20.1", "protein_names_uniprotkb": "Radial spoke head protein 3 homolog; A-kinase anchor protein RSPH3; Radial spoke head-like protein 2", "protein_names_refseq": "A-kinase anchor protein RSPH3; radial spoke 3 homolog; radial spoke head 3 homolog; radial spoke head protein 3 homolog isoform 2; radial spoke head protein 3 homolog; radial spoke head-like protein 2", "tax_id": 9606, "disease": "primary ciliary dyskinesia 32 (Disease Ontology:DOID:0110603)", "pathway": " (hsa:83861)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;18991276;19684019;25576301;26073779;26992070;27120127;27920218;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29786170;30524438;30779550;30833945;31154438;31217245;31844290;31848261;32124190;32157095;32161166;32387766;32938616;32983136;33968037;33981976;34087483;34171305;34561969;35051231;35580925;36215666;36284347;36355624;37804054;37938771", "class_list": "", "function": "Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia (By similarity). Functions as a protein kinase A-anchoring protein that scaffolds the cAMP-dependent protein kinase holoenzyme. May serve as a point of convergence for MAPK and PKA signaling in cilia (PubMed:19684019)., [UniProtKB, PubMed, UniProtKB]; Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection., [RefSeq, PubMed]; RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes., [RefSeq, PubMed]; Radial spoke protein 3 is a mammalian protein kinase A-anchoring protein that binds ERK1/2., [RefSeq, PubMed]; The protein encoded by this gene acts as a protein kinase A anchoring protein. Mutations in this gene cause primary ciliary dyskinesia; a disorder characterized by defects of the axoneme in motile cilia and sperm flagella. The homolog of this gene was first identified in the blue-green algae Chlamydomonas as encoding a radial spoke protein that formed a structural component of motile cilia and flagella. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 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": 3, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q96LQ5;Q96LX2;Q9BX75", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097729 9+2 motile cilium;GO:0001535 radial spoke head", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q86UC2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHF7-1", "uniprot_id": [ { "id": "TRPS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHF7", "type": "external" } ], "mass": 141521.0, "length": 1281, "protein_name": "Zinc finger transcription factor Trps1", "gene_name": "TRPS1", "organism": "Human", "refseq_name": "zinc finger transcription factor Trps1 isoform 2", "refseq_ac": [ { "id": "NP_001269831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269831", "type": "external" } ], "gene_names_uniprotkb": "TRPS1", "gene_names_refseq": "GC79; LGCR; TRPS1", "protein_names_uniprotkb": "Zinc finger transcription factor Trps1; Tricho-rhino-phalangeal syndrome type I protein; Zinc finger protein GC79", "protein_names_refseq": "tricho-rhino-phalangeal syndrome type I protein; trichorhinophalangeal syndrome I; zinc finger protein GC79; zinc finger transcription factor Trps1 isoform 2; zinc finger transcription factor Trps1", "tax_id": 9606, "disease": "trichorhinophalangeal syndrome type III (Disease Ontology:DOID:0080376); trichorhinophalangeal syndrome type I (Disease Ontology:DOID:14743); osteochondrodysplasia (Disease Ontology:DOID:2256); trichorhinophalangeal syndrome type II (Disease Ontology:DOID:4998)", "pathway": " (hsa:7227)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "10615131;10974077;11112658;11237011;11807863;12885770;14560312;17081983;17391059;19389374;20068231;23186163;25114211;25218447;25576301;25755297;25772364;29557506;29786170;30429286;30620550;31844290;32157095;32161166;32387766;32938616;33592498;33968037;34087483;34509645;34846842;35051231;35132862;35254053;35513511;35580925;36010968;38377146;38574886;39074626;39181273;39307879;39531497;40596516", "class_list": "", "function": "Analysis of the function, mechanism and clinical application prospect of TRPS1, a new marker for breast cancer. Review article, [RefSeq, PubMed]; Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants., [RefSeq, PubMed]; Single-cell exome sequencing reveals polyclonal seeding and TRPS1 mutations in colon cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; TRPS1 modulates chromatin accessibility to regulate estrogen receptor alpha (ER) binding and ER target gene expression in luminal breast cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional repressor. Binds specifically to GATA sequences and represses expression of GATA-regulated genes at selected sites and stages in vertebrate development. Regulates chondrocyte proliferation and differentiation. Executes multiple functions in proliferating chondrocytes, expanding the region of distal chondrocytes, activating proliferation in columnar cells and supporting the differentiation of columnar into hypertrophic chondrocytes., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; UVB-induced TRPS1 regulates MITF transcription activity to promote skin pigmentation., [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": 9, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4E1Z5;Q08AU2;Q9NWE1;Q9UHH6", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019904 protein domain specific 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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0032991 protein-containing 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:0001501 skeletal system development;GO:0032330 regulation of chondrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9UHF7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4ADV7-1", "uniprot_id": [ { "id": "RIC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4ADV7", "type": "external" } ], "mass": 159301.0, "length": 1423, "protein_name": "Guanine nucleotide exchange factor subunit RIC1", "gene_name": "RIC1", "organism": "Human", "refseq_name": "guanine nucleotide exchange factor subunit RIC1 isoform b", "refseq_ac": [ { "id": "NP_001129392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129392", "type": "external" } ], "gene_names_uniprotkb": "RIC1; CIP150; KIAA1432", "gene_names_refseq": "CATIFA; CIP150; KIAA1432; RIC1; bA207C16.1", "protein_names_uniprotkb": "Guanine nucleotide exchange factor subunit RIC1; Connexin-43-interacting protein of 150 kDa; Protein RIC1 homolog; RAB6A-GEF complex partner protein 1", "protein_names_refseq": "RAB6A GEF complex partner 1; RAB6A-GEF complex partner protein 1; RIC1 homolog, RAB6A GEF complex partner 1; connexin 43-interacting protein 150 kDa; connexin-43-interacting protein of 150 kDa; guanine nucleotide exchange factor subunit RIC1 isoform b; guanine nucleotide exchange factor subunit RIC1; protein RIC1 homolog", "tax_id": 9606, "disease": "Catifa syndrome (MONDO:MONDO:0032901)", "pathway": " (hsa:57589); (R-HSA-6811438); (R-HSA-6811440); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 332, "publication_id_list": "10189370;10209123;10445031;10559959;10637310;10652308;10652516;10818110;10865125;10990452;11038176;11179213;11230166;11237011;11303027;11346801;11359012;11516400;11689439;11703925;11718716;11746448;11748249;11784320;11827983;11839770;11917121;12011112;12058051;12070132;12221131;12244319;12364329;12377769;12383348;12427552;12429822;12475894;12620188;12620189;12684051;12944476;12972505;14580338;14718928;15029241;15037235;15077113;15077114;15096524;15128430;15138286;1516130;15247254;15269279;15388334;15483056;15504911;15528189;15561770;15654769;15692570;15718469;15728195;15758030;15870108;15878329;15914536;15958533;16042553;16112082;16129887;16207721;16373702;16410077;16525024;16525121;16571673;16571679;16641372;16754960;16880209;16885419;16912714;16936697;16950109;17043139;17132146;17189207;17208202;17239822;17274799;17287728;17451557;17488286;17488291;17562788;17574030;17646400;17671165;17678623;17684057;17698061;18076383;18086915;18094055;18195106;18243103;18256213;18354496;18367545;18451304;1845915;18477474;18559336;18585354;18664496;18669648;18701652;18779367;18804435;18946081;1900457;19109890;19164740;19345684;19403694;19490898;19536132;19620288;19656848;19715559;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20163571;20305638;20308558;20404108;20434987;20592283;20685960;20797862;20851765;20874812;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21436057;21445324;21458671;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21807881;21951725;22013193;22065758;22072793;22171327;22188167;22335553;22354037;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22717455;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378023;23378591;23420520;23437303;23444368;23462996;23478338;23481700;23645161;23678941;23684622;23713133;23716474;23839779;23936529;23940353;24119662;24296415;24644286;24694596;24714562;24719330;24794632;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25645385;25648148;25708460;25713415;25880248;25925668;26055712;26177209;26245486;26375851;26434594;26538022;26811146;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27846572;27878435;27920218;28063628;28218747;28228285;28832583;28855257;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;31154438;31844290;31848261;31932796;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33691108;33717175;33912179;33936100;33968037;35051231;35318648;35580925;36493769;7688123;7909812;7911226;8144603;8221884;8408203;8440258;8522602;8620540;8636227;8670882;8863739;8945478;9020086;9020161;9030515;9050864;9136770;9177194;9230071;9244307;9323142;9476900;9510256;9590177;9653114;9707577;9733780;9915833", "class_list": "", "function": "Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes., [RefSeq, PubMed]; KIAA1432 is a novel gene activated by amplification in Small Cell Lung Cancers., [RefSeq, PubMed]; Reduced genetically determined expression of RIC1 is associated with musculoskeletal and dental conditions., [RefSeq, PubMed]; The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP, and may thereby be required for efficient fusion of endosome-derived vesicles with the Golgi compartment (PubMed:23091056). The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors (PubMed:23091056). Required for phosphorylation and localization of GJA1 (PubMed:16112082). Is a regulator of procollagen transport and secretion, and is required for correct cartilage morphogenesis and development of the craniofacial skeleton (PubMed:31932796)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; These results suggest that the newly identified domain is essential for the proper phosphorylation and localization of Cx43, and CIP150 is a novel partner protein targeting this 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RN24;B7ZM67;G5E932;Q4VXJ8;Q4VXJ9;Q76MT5;Q8N6E0;Q8TEH4;Q9H0A5;Q9H9S1", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0034066 Ric1-Rgp1 guanyl-nucleotide exchange factor complex;GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:1904888 cranial skeletal system development;GO:0006886 intracellular protein transport;GO:0043547 positive regulation of GTPase activity;GO:0042147 retrograde transport, endosome to Golgi;GO:0042177 negative regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 33.3, "record_id": "Q4ADV7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15572-1", "uniprot_id": [ { "id": "TAF1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15572", "type": "external" } ], "mass": 95213.0, "length": 869, "protein_name": "TATA box-binding protein-associated factor RNA polymerase I subunit C", "gene_name": "TAF1C", "organism": "Human", "refseq_name": "TATA box-binding protein-associated factor RNA polymerase I subunit C isoform 4", "refseq_ac": [ { "id": "NP_001230086", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230086", "type": "external" } ], "gene_names_uniprotkb": "TAF1C", "gene_names_refseq": "MGC:39976; SL1; TAF1C; TAFI110; TAFI95", "protein_names_uniprotkb": "TATA box-binding protein-associated factor RNA polymerase I subunit C; RNA polymerase I-specific TBP-associated factor 110 kDa; TAFI110; TATA box-binding protein-associated factor 1C; TBP-associated factor 1C; Transcription initiation factor SL1/TIF-IB subunit C", "protein_names_refseq": "RNA polymerase I-specific TBP-associated factor 110 kDa; SL1, 110kD subunit; TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD; TATA box-binding protein-associated factor 1C; TATA box-binding protein-associated factor RNA polymerase I subunit C isoform 4; TATA-box binding protein associated factor, RNA polymerase I, C; TBP-associated factor 1C; transcription factor SL1; transcription initiation factor SL1/TIF-IB subunit C", "tax_id": 9606, "disease": "", "pathway": " (hsa:9013); (R-HSA-427359); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)", "pathway_count": 7, "publication_count": 93, "publication_id_list": "10082553;10471499;10913176;11237011;11250901;11250903;11283244;12393749;12646563;14610093;14969726;15469825;1547496;15558034;15723054;15970593;16514417;16603771;17318177;17355984;17525332;18220336;18485871;19838300;21559432;22805593;23186163;23481700;23555303;23667505;23897426;24714562;24715725;24901984;24952918;25916849;26023773;26154972;26992070;27418187;27418309;27600516;27846572;27920218;2805069;28834231;28904123;29237092;29508533;29557506;29789417;30059200;30315122;30379171;31039436;31492838;31844290;32157095;32357974;32387766;32488085;32502341;32779182;32938616;32983136;33091337;33141586;33298915;33392160;33691108;33912179;33968037;33981976;34171305;34211107;34846842;34932366;35051231;35254053;35289036;35318648;35513511;35580925;36010968;36284347;37340703;37938771;38838015;39894887;7491500;7597036;7801123;9582279", "class_list": "", "function": "Component of the transcription factor SL1/TIF-IB complex, which is involved in the assembly of the PIC (pre-initiation complex) during RNA polymerase I-dependent transcription. The rate of PIC formation probably is primarily dependent on the rate of association of SL1/TIF-IB with the rDNA promoter. SL1/TIF-IB is involved in stabilization of nucleolar transcription factor 1/UBTF on rDNA. Formation of SL1/TIF-IB excludes the association of TBP with TFIID subunits. Recruits RNA polymerase I to the rRNA gene promoter via interaction with RRN3., [UniProtKB, PubMed, PubMed, PubMed]; HCdc14B promotes reactivation of rDNA transcription by dephosphorylating TAFI110. SIRT1 becomes transiently enriched in nucleoli at the onset of mitosis. SIRT1 deacetylates TAFI68 destabilizing SL1 binding to the rDNA promoter Publication Status: Online-Only, [RefSeq, PubMed]; Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype., [RefSeq, PubMed]; Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]., [RefSeq]; Observed significantly higher TAF1C expression in patients with type 2 diabetes mellitus (T2DM), suggesting a role for increased protein synthesis in T2DM., [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": 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": 3, "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": 7, "binding_glycan_count": 0, "secondary_ac_list": "B7Z5K5;B7Z5S4;B7Z908;B7Z9L7;Q59F67;Q8N6V3", "ec_number_list": [], "go_molecular_function": "GO:0001164 RNA polymerase I core promoter sequence-specific DNA binding;GO:0001181 RNA polymerase I general transcription initiation factor activity", "go_cellular_component": "GO:0005668 RNA polymerase transcription factor SL1 complex;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center", "go_biological_process": "GO:0006360 transcription by RNA polymerase I;GO:0006355 regulation of DNA-templated transcription;GO:0006366 transcription by RNA polymerase II;GO:0006361 transcription initiation at RNA polymerase I promoter", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q15572-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16181-1", "uniprot_id": [ { "id": "SEPT7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16181", "type": "external" } ], "mass": 50680.0, "length": 437, "protein_name": "Septin-7", "gene_name": "SEPTIN7", "organism": "Human", "refseq_name": "septin-7 isoform 1", "refseq_ac": [ { "id": "NP_001779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001779", "type": "external" } ], "gene_names_uniprotkb": "SEPTIN7; CDC10; SEPT7", "gene_names_refseq": "CDC10; CDC3; NBLA02942; SEPT7A; SEPT7; SEPTIN7; Septin-7", "protein_names_uniprotkb": "Septin-7; CDC10 protein homolog", "protein_names_refseq": "CDC10 (cell division cycle 10, S. cerevisiae, homolog); CDC10 protein homolog; septin-7 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:989); (R-HSA-5687128)", "pathway_count": 2, "publication_count": 179, "publication_id_list": "10470034;10975528;11237011;11584266;11804587;12546821;12808096;12915405;15226418;15485874;15538386;15577943;15592455;15915442;16093351;16360641;16371649;16914550;16971392;16973613;17081983;17161475;17254968;17287340;17395884;17637674;17728103;17803907;17947239;18031682;18083107;18162290;18212344;18235225;18248330;18452278;18460473;18593949;18644862;18669648;18720373;19007248;19145258;19166925;19413330;19473979;19513348;19593530;19651622;19664994;19664995;19691289;19901323;20068231;20166139;20236090;20536836;20543837;20734105;20849292;21177870;21317288;21329875;21329882;21372320;22267219;22279049;22505454;22508986;22800433;23069990;23186163;23878308;24309468;24585635;24714562;24715725;25339975;25576301;25588830;25645385;25810538;25880248;25892735;26154972;26728094;26992070;27397612;27543614;27600516;27846572;27862975;27920218;28063628;28228285;28346465;28510447;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30379171;30410026;30429286;30484775;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33392160;33465208;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34561969;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;35602601;36010968;36241641;36284347;36581221;37217939;37712436;37938771;38665916;40596516;40914422;7559638;7799959;8037772;8107774;9535855;9628874;9747882", "class_list": "", "function": "Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Required for normal progress through mitosis. Involved in cytokinesis. Required for normal association of CENPE with the kinetochore. Plays a role in ciliogenesis and collective cell movements. Forms a filamentous structure with SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; SEPT7 forms a link between kinetochore distribution of CENP-E and the mitotic spindle checkpoint., [RefSeq, PubMed]; This gene encodes a protein that is highly similar to the CDC10 protein of Saccharomyces cerevisiae. The protein also shares similarity with Diff 6 of Drosophila and with H5 of mouse. Each of these similar proteins, including the yeast CDC10, contains a GTP-binding motif. The yeast CDC10 protein is a structural component of the 10 nm filament which lies inside the cytoplasmic membrane and is essential for cytokinesis. This human protein functions in gliomagenesis and in the suppression of glioma cell growth, and it is required for the association of centromere-associated protein E with the kinetochore. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified on chromosomes 5, 7, 9, 10, 11, 14, 17 and 19. [provided by RefSeq, Jul 2011]., [RefSeq]; X-ray structure of the metastable SEPT14-SEPT7 coiled coil reveals a hendecad region crucial for heterodimerization., [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": 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": 13, "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": "Q52M76;Q6NX50", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0097227 sperm annulus;GO:0005940 septin ring;GO:0005634 nucleus;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0007010 cytoskeleton organization;GO:0060271 cilium assembly;GO:0008104 intracellular protein localization", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "Q16181-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULI2-1", "uniprot_id": [ { "id": "RIMKB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULI2", "type": "external" } ], "mass": 42464.0, "length": 386, "protein_name": "Beta-citrylglutamate synthase B", "gene_name": "RIMKLB", "organism": "Human", "refseq_name": "beta-citrylglutamate synthase B", "refseq_ac": [ { "id": "NP_001284705", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284705", "type": "external" } ], "gene_names_uniprotkb": "RIMKLB; FAM80B; KIAA1238", "gene_names_refseq": "FAM80B; NAAGS-I; NAAGS; RIMKLB", "protein_names_uniprotkb": "Beta-citrylglutamate synthase B; 6.3.1.17; 6.3.2.41; N-acetyl-aspartylglutamate synthetase B; NAAG synthetase B; NAAGS; Ribosomal protein S6 modification-like protein B", "protein_names_refseq": "N-acetyl-aspartyl-glutamate synthetase B; N-acetyl-aspartylglutamate synthetase B; N-acetylaspartyl-glutamate synthetase B; NAAG synthetase B; beta-citryl-glutamate synthase B; beta-citrylglutamate synthase B; family with sequence similarity 80, member B; ribosomal protein S6 modification-like protein B", "tax_id": 9606, "disease": "", "pathway": " (hsa:57494); (R-HSA-8964539)", "pathway_count": 2, "publication_count": 55, "publication_id_list": "11237011;11903050;12054821;15364907;16267323;16730026;1737786;18005987;19338303;19648921;20657015;21454531;23024808;25865492;26902786;26992070;2722838;27600516;27862975;28228285;28832583;28904123;29242379;29508533;29557506;29786170;30484775;30524438;31154438;31422819;31844290;32157095;32488085;32502341;32938616;33298915;33592498;33717175;33968037;34171305;34405274;34932366;35051231;35318648;35580925;36010968;36215666;36241641;37938771;4052435;429360;6819292;7883047;8294935;9514741", "class_list": "", "function": "Catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate., [UniProtKB, UniProtKB]; Ribosomal modification protein rimK-like family member A (Rimkla) gene is a NAAG synthetase (NAAGS-II), which synthesizes the N-acetylated tripeptide N-acetylaspartylglutamylglutamate (NAAG(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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7Z834;D3DUV2;Q8N4P4;Q8WTW6", "ec_number_list": [ { "id": "6.3.2.41", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.41", "type": "external" }, { "id": "6.3.2.42", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.42", "type": "external" }, { "id": "6.3.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.1.17", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0072590 N-acetyl-L-aspartate-L-glutamate ligase activity;GO:0072591 citrate-L-glutamate ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0170033 L-amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9ULI2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46782-1", "uniprot_id": [ { "id": "RS5_HUMAN", "url": "https://www.uniprot.org/uniprot/P46782", "type": "external" } ], "mass": 22876.0, "length": 204, "protein_name": "Small ribosomal subunit protein uS7", "gene_name": "RPS5", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS7", "refseq_ac": [ { "id": "NP_001000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001000", "type": "external" } ], "gene_names_uniprotkb": "RPS5", "gene_names_refseq": "RPS5; S5; uS7", "protein_names_uniprotkb": "Small ribosomal subunit protein uS7; 40S ribosomal protein S5, N-terminally processed; 40S ribosomal protein S5", "protein_names_refseq": "40S ribosomal protein S5; small ribosomal subunit protein uS7", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:6193); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 316, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15004565;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18452278;18455985;18524595;18539146;1856230;1861871;18657639;18691976;18974281;18991276;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19651622;19691289;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21136679;21145460;21419344;22072790;22121020;22174690;22190735;22195017;22223895;22544926;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23746841;2388630;24275569;24366607;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25469497;25525153;25576301;25645385;25810538;25892735;25969445;26154972;26237581;26374642;26375851;26728094;26929215;26992070;27397612;27452731;27526673;27543614;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28467828;28489076;28685749;28832583;28834231;28904123;29242379;29314611;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30293783;30315122;30429286;30484775;30524438;30779550;30804176;30833945;31020640;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32099016;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33188728;33214551;33268501;33479166;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34315815;34357683;34373319;34509645;34516797;34561969;34624207;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35681048;36010968;36241641;36284347;36302773;36579641;36610391;36834797;37217939;37938771;38255847;38665916;39395807;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7772601;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). 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]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. 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., [UniProtKB, UniProtKB, UniProtKB]; Eukaryotic Ribosomal Protein S5 of the 40S Subunit: Structure and Function. Review article Publication Status: Online-Only, [RefSeq, PubMed]; KDM4D enhances osteo/dentinogenic differentiation and migration of SCAPs via binding to RPS5., [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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Stabilization of CDK6 by ribosomal protein uS7, a target protein of the natural product fucoxanthinol. Publication Status: Online-Only, [RefSeq, PubMed]; Unraveling the Role of RNA-Binding Proteins, with a Focus on RPS5, in the Malignant Progression of 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R4T2;Q96BN0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006413 translational initiation;GO:0006412 translation;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis;GO:0006450 regulation of translational fidelity", "synthesized_glycan_count": 0, "hit_score": 31.9, "record_id": "P46782-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H633-1", "uniprot_id": [ { "id": "RPP21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H633", "type": "external" } ], "mass": 17570.0, "length": 154, "protein_name": "Ribonuclease P protein subunit p21", "gene_name": "RPP21; TRIM39-RPP21", "organism": "Human", "refseq_name": "ribonuclease P protein subunit p21 isoform 1", "refseq_ac": [ { "id": "NP_001186049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186049", "type": "external" } ], "gene_names_uniprotkb": "RPP21; TRIM39-RPP21; C6orf135; CAT60; RPP21", "gene_names_refseq": "C6orf135; CAT60; RPP21", "protein_names_uniprotkb": "Ribonuclease P protein subunit p21; RNaseP protein p21; Ribonuclease P/MRP 21 kDa subunit; Ribonucleoprotein V", "protein_names_refseq": "RNaseP protein p21; ribonuclease P protein subunit p21 isoform 1; ribonuclease P protein subunit p21; ribonuclease P/MRP 21kDa subunit; ribonuclease P/MRP subunit p21; ribonucleoprotein V", "tax_id": 9606, "disease": "", "pathway": " (hsa:202658); (hsa:79897); (R-HSA-6784531); (R-HSA-6791226)", "pathway_count": 4, "publication_count": 109, "publication_id_list": "10444065;11237011;11455963;11497433;11727826;11871657;11922599;12068309;12138183;12150911;12526808;12711671;12729736;15109492;15317868;16037817;16043514;16361254;16710424;16723659;16738141;17189298;17204286;17224653;17353269;17412707;18065403;18226598;18438418;18809514;18984158;19106111;19332556;19564402;19801658;19851445;20038530;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21311021;21450806;21559454;21593607;22072790;22190735;22195017;22916032;22944664;23439679;23482395;2388630;24424021;24550520;2470644;24870230;25418920;25525153;25576301;25640237;25645385;25849199;25892735;25969445;26237581;26929215;26992070;27846572;28432356;28832583;28904123;29557506;29769354;30315122;30454648;30779550;31154438;31217245;31844290;31848261;32157095;32357974;32488085;32897882;32938616;33298915;33537174;33691108;33717175;33912179;33968037;34171305;34185709;34561969;35318648;35580925;36010968;37938771;6930639;7759547;7828588;9482744;9512417;9660920", "class_list": "", "function": "Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RPP21 is a protein subunit of nuclear ribonuclease P, which processes the 5-prime leader sequence of precursor tRNAs (Jarrous et al., 2001 [PubMed 11497433]).[supplied by OMIM, Jan 2009]., [RefSeq]; Results demonstrate that Rpp29 and Rpp21 depletion impairs double-strand break (DSB) repair by homology-directed repair (HDR), but has no deleterious effect on the integrity of non-homologous end joining. Rpp29 and Rpp21 are rapidly and transiently recruited to laser-microirradiated sites. They bind poly ADP-ribose moieties and are recruited to DNA damage sites in a PARP1-dependent manner. 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": "A2AAZ8;B0S834;B0S835;Q5JPL9;Q5JPM1;Q5STF8;Q5STF9;Q5STG2;Q5SU41;Q5SU42;Q86Y49;Q86Y50;Q86Y51;Q96F16", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0033204 ribonuclease P RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005655 nucleolar ribonuclease P complex;GO:0030681 multimeric ribonuclease P complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0008033 tRNA processing;GO:0009410 response to xenobiotic stimulus;GO:0001682 tRNA 5'-leader removal;GO:0006396 RNA processing", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9H633-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6GYQ0-1", "uniprot_id": [ { "id": "RGPA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6GYQ0", "type": "external" } ], "mass": 229832.0, "length": 2036, "protein_name": "Ral GTPase-activating protein subunit alpha-1", "gene_name": "RALGAPA1", "organism": "Human", "refseq_name": "ral GTPase-activating protein subunit alpha-1 isoform 5", "refseq_ac": [ { "id": "NP_001317004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317004", "type": "external" } ], "gene_names_uniprotkb": "RALGAPA1; GARNL1; KIAA0884; TULIP1", "gene_names_refseq": "GARNL1; GRIPE; NEDHRIT; RALGAPA1; RalGAPalpha1; TULIP1; p240", "protein_names_uniprotkb": "Ral GTPase-activating protein subunit alpha-1; GAP-related-interacting partner to E12; GRIPE; GTPase-activating Rap/Ran-GAP domain-like 1; Tuberin-like protein 1; p240", "protein_names_refseq": "GAP-related interacting protein to E12; GTPase activating Rap/RanGAP domain-like 1; Ral GTPase activating protein catalytic alpha subunit 1; Ral GTPase activating protein, alpha subunit 1 (catalytic); ral GTPase-activating protein subunit alpha-1 isoform 5; tuberin-like protein 1", "tax_id": 9606, "disease": "neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (MONDO:MONDO:0032921)", "pathway": " (hsa:253959); (R-HSA-9013407)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11368848;11809807;15037602;15498464;17028588;17064668;17081983;17525332;18220336;18452278;18669648;19415658;19520869;19651622;19664994;19690332;19733229;20058876;20068231;20184954;20230923;20851766;21406692;23186163;23481700;24275569;24715725;24768767;25576301;25645385;26992070;27846572;27893789;27920218;28228285;28832583;28904123;29242379;29351928;29493099;29510700;29557506;29632711;29786170;30192525;30315122;30410026;30484775;30524438;31154438;31844290;31848261;31871319;32004447;32157095;32161166;32265295;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34561969;35051231;35580925;36241641;36581221;37938771;38141762;38253038", "class_list": "", "function": "Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities., [RefSeq, PubMed]; Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB., [UniProtKB]; GARNL1/RalGAPalpha1 is amajor RalGAPalphasubunit in skeletal muscle, and is regulated by protein phosphorylation and 14-3-3 binding upon stimulation with insulin or muscle contraction., [RefSeq, PubMed]; RanGAP1 remains associated with RanBP2/Nup358 and the SUMO E2-conjugating enzyme Ubc9 in mitosis., [RefSeq, PubMed]; Reduced TULIP1 was found in lymphocytes from a developmentally delayed epileptic patient with a microdeletion of 14q13.1q13.3 and in cell lysates from other patients with a missense P297 mutation., [RefSeq, PubMed]; This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]., [RefSeq]; Toxoplasma gondii mitochondrial association factor 1b interactome reveals novel binding partners including Ral GTPase accelerating protein alpha1., [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": 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": 21, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 41, "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": "A6NMA4;B9EK38;C5NU19;O94960;Q6GYP9;Q6ZT23;Q86YF3;Q86YF5;Q8ND69", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0090630 activation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q6GYQ0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17900-1", "uniprot_id": [ { "id": "SAP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P17900", "type": "external" } ], "mass": 20838.0, "length": 193, "protein_name": "Ganglioside GM2 activator", "gene_name": "GM2A", "organism": "Human", "refseq_name": "ganglioside GM2 activator isoform 1 precursor", "refseq_ac": [ { "id": "NP_000396", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000396", "type": "external" } ], "gene_names_uniprotkb": "GM2A", "gene_names_refseq": "GM2-AP; GM2AP; GM2A; SAP-3", "protein_names_uniprotkb": "Ganglioside GM2 activator; Cerebroside sulfate activator protein; GM2-AP; SAP-3; Sphingolipid activator protein 3", "protein_names_refseq": "GM2 ganglioside activator; GM2-activator protein; cerebroside sulfate activator protein; ganglioside GM2 activator isoform 1 precursor; shingolipid activator protein 3; sphingolipid activator protein 3", "tax_id": 9606, "disease": "GM2 gangliosidosis (Disease Ontology:DOID:3321); GM2 gangliosidosis, AB variant (Disease Ontology:DOID:4795)", "pathway": " (hsa:2760); (R-HSA-6798695); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 187, "publication_id_list": "10191093;10196694;10364519;10406958;10781797;10823942;10861246;10942779;10993717;11090283;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12662933;12885774;12888274;12909021;1352293;1352993;1427911;15003450;15213228;15458386;1554364;1570834;15714521;15773042;15845354;16229686;16230343;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;174379;17552909;1756715;1840600;18524657;1889421;1907800;1915857;1915858;19405096;19836391;2001789;2059210;20728381;21081667;2209618;23328677;23481700;235289;23555621;23650620;23719902;239890;24715725;25502872;25505266;25576301;2562955;26154972;26203402;26375851;26811146;2717620;27452731;2753159;27600516;27726376;27846572;27920218;28063628;28126847;28228285;28832583;29242379;29443946;29508533;29557506;2960521;29632711;2965147;29692406;2970528;2971395;29747811;2976757;29786170;29802621;3014515;30192525;30429286;3048308;30524438;30779550;30988135;31154438;31217245;31222486;3136930;31495489;31578452;3158659;31844290;31848261;32157095;32162841;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33592498;33691108;33819415;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34357683;34405274;34433824;34509645;3456607;34932366;35051231;35154160;35251023;35318648;35459695;35561310;36010968;36215666;36241641;39894887;39940;5135907;5164093;527942;5822067;7504405;7628016;7730378;7744740;7852280;8244332;8281145;8370580;8399327;8573994;8591035;8663398;8672555;8692836;8804427;8889578;8900233;8955159;8985184;9217013;9338580;9520418;9521684", "class_list": "glycogene", "function": "GM2-GM3 gangliosides ratio is dependent on GRP94 through down-regulation of GM2-AP cofactor in brain metastasis cells. Publication Status: Online-Only, [RefSeq, PubMed]; Lipid-binding and transfer protein essential for lysosomal degradation of ganglioside GM2. Extracts single GM2 molecules from intralysosomal luminal vesicle (ILV) membranes and presents them in soluble form to beta-hexosaminidase A (HEXA) for cleavage of N-acetyl-D-galactosamine and conversion to GM3 (PubMed:30988135, PubMed:8900233). Forms a stoichiometric GM2-GM2A complex that serves as the substrate for HEXA (PubMed:30988135, PubMed:8900233). Also stimulates the breakdown of glycolipid GA2 by HEXA (By similarity). Possesses dual function: membrane lipid mobilization/solubilization and lipid substrate presentation to hydrolases (PubMed:30988135). The large binding pocket can accommodate several single-chain phospholipids and fatty acids (By similarity). Exhibits some calcium-independent phospholipase activity (By similarity). Participates in cholesterol transfer (PubMed:17552909)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme beta-hexosaminidase A. Beta-hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene result in GM2-gangliosidosis type AB or the AB variant of Tay-Sachs disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]., [RefSeq]; Two patients from Turkey with a novel variant in the GM2A gene and review of the literature. Review article 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 275, "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": "B2R699;D3DQH6;Q14426;Q14428;Q6LBL5", "ec_number_list": [], "go_molecular_function": "GO:0005319 lipid transporter activity;GO:0016004 phospholipase activator activity;GO:0030290 sphingolipid activator protein activity;GO:0032428 beta-N-acetylgalactosaminidase activity;GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0016323 basolateral plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006689 ganglioside catabolic process;GO:0006869 lipid transport;GO:0046479 glycosphingolipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 19.0, "record_id": "P17900-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63162-1", "uniprot_id": [ { "id": "RSMN_HUMAN", "url": "https://www.uniprot.org/uniprot/P63162", "type": "external" } ], "mass": 24614.0, "length": 240, "protein_name": "Small nuclear ribonucleoprotein-associated protein N", "gene_name": "SNRPN", "organism": "Human", "refseq_name": "small nuclear ribonucleoprotein-associated protein N isoform b", "refseq_ac": [ { "id": "NP_003088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003088", "type": "external" } ], "gene_names_uniprotkb": "SNRPN; HCERN3; SMN", "gene_names_refseq": "HCERN3; PWCR; PWS; RT-LI; SM-D; SMN; SNRNP-N; SNRPN; SNURF-SNRPN; sm-N", "protein_names_uniprotkb": "Small nuclear ribonucleoprotein-associated protein N; Sm protein D; Sm protein N; Sm-D; Sm-N; SmN; Tissue-specific-splicing protein; snRNP-N", "protein_names_refseq": "SM protein N; sm protein D; small nuclear ribonucleoprotein-associated protein N isoform b; small nuclear ribonucleoprotein-associated protein N; tissue-specific splicing protein", "tax_id": 9606, "disease": "Prader-Willi syndrome (Disease Ontology:DOID:11983); Angelman syndrome (Disease Ontology:DOID:1932); tauopathy (Disease Ontology:DOID:680)", "pathway": " (hsa:6638); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 5, "publication_count": 168, "publication_id_list": "10028021;10199952;10318933;10564545;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11251884;11747608;11991638;12176931;12411573;12414731;12477934;12682017;1372022;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15324931;15565158;15647753;15955813;16263726;16314458;16372014;16809785;1688587;1708261;17095540;17128255;17332742;17433364;17606899;17717186;18042460;18288197;18322460;18593880;18849143;19103666;19165350;19217410;19536130;20211137;20423332;20695905;20980672;21295486;21362751;21536652;2176635;21911577;22046413;22110043;22365833;22569126;22813749;22922743;22959432;22961380;23222130;23236153;23345524;23874216;24076191;24129315;24149845;24196718;24304693;24448447;24714562;24715725;24737827;24914973;2522186;2522449;2528429;25301780;25301781;25555158;2558966;25880248;26092250;26385511;26420826;26969736;26992070;27108190;27377154;27459055;2753153;27661449;27683217;28062851;28076346;28096519;28502770;28781166;28911096;29186539;29274231;29301961;29360106;29361316;2963332;29902443;30139799;30257008;30315277;30410026;30599162;30705154;30728453;30765414;30975767;31409651;32179686;32265295;32329775;32494006;32816001;33141586;33177556;33214551;33243851;33446560;33537174;33981976;34019948;34301950;34822310;35083852;35138101;35177536;35215846;35385551;36284347;36316968;37511433;3757028;40914422;7512861;7530756;7554555;8363612;8566756;8571960;8608946;8774549;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529;9802926", "class_list": "", "function": "May be involved in tissue-specific alternative RNA processing events., [UniProtKB]; N-Acetylglucosamine Kinase-Small Nuclear Ribonucleoprotein Polypeptide N Interaction Promotes Axodendritic Branching in Neurons via Dynein-Mediated Microtubule Transport. Publication Status: Online-Only, [RefSeq, PubMed]; Novel lncRNA-prader willi/angelman region RNA, SNRPN neighbour (PWARSN) aggravates tubular epithelial cell pyroptosis by regulating TXNIP via dual way in diabetic kidney disease., [RefSeq, PubMed]; SNRPN gene is imprinted, with monoallelic expression from the paternal allele in fetal brain and heart, and in adult brain., [RefSeq, PubMed]; This gene is located within the Prader-Willi Syndrome critical region on chromosome 15 and is imprinted and expressed from the paternal allele. It encodes a component of the small nuclear ribonucleoprotein complex, which functions in pre-mRNA processing and may contribute to tissue-specific alternative splicing. Alternative promoter use and alternative splicing result in a multitude of transcript variants encoding the same protein. Transcript variants that initiate at the CpG island-associated imprinting center may be bicistronic and also encode the SNRPN upstream reading frame protein (SNURF) from an upstream open reading frame. In addition, long spliced transcripts for small nucleolar RNA host gene 14 (SNHG14) may originate from the promoters at this locus and share exons with this gene. Alterations in this region are associated with parental imprint switch failure, which may cause Angelman syndrome or Prader-Willi syndrome. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVR1;P14648;P17135;Q0D2Q5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0070990 snRNP binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005681 spliceosomal complex;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 17.1, "record_id": "P63162-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQC6-1", "uniprot_id": [ { "id": "RT63_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQC6", "type": "external" } ], "mass": 12266.0, "length": 102, "protein_name": "Large ribosomal subunit protein mL63", "gene_name": "MRPL57", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL63", "refseq_ac": [ { "id": "NP_076931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076931", "type": "external" } ], "gene_names_uniprotkb": "MRPL57; MRP63", "gene_names_refseq": "MRP63; MRPL57; bMRP63; mL63", "protein_names_uniprotkb": "Large ribosomal subunit protein mL63; Mitochondrial ribosomal protein 63; Mitochondrial ribosomal protein L57; Ribosomal protein 63, mitochondrial; hMRP63", "protein_names_refseq": "hMRP63; large ribosomal subunit protein mL63; mitochondrial large ribosomal subunit protein mL63; mitochondrial ribosomal protein 63; mitochondrial ribosomal protein bMRP63; ribosomal protein 63, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:78988); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11402041;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23481700;24714562;25233460;25278503;25418920;25838379;26728094;26992070;27029019;27600516;27846572;27920218;28063628;28228285;28510447;28832583;28892042;29242379;29393594;29508533;29632046;30315122;30833945;31844290;32265295;32387766;32502341;32897882;32938616;33243891;33691108;33717175;33878294;33936100;33968037;34087483;34509645;35177605;36302763;36596788;37141370", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008]., [RefSeq]; 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": 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": 6, "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": "A2A332", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9BQC6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNE2-1", "uniprot_id": [ { "id": "RPH3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNE2", "type": "external" } ], "mass": 34464.0, "length": 315, "protein_name": "Rab effector Noc2", "gene_name": "RPH3AL", "organism": "Human", "refseq_name": "rab effector Noc2 isoform 1", "refseq_ac": [ { "id": "NP_001177340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177340", "type": "external" } ], "gene_names_uniprotkb": "RPH3AL; NOC2", "gene_names_refseq": "NOC2; RPH3AL", "protein_names_uniprotkb": "Rab effector Noc2; No C2 domains protein; Rabphilin-3A-like protein", "protein_names_refseq": "no C2 domains protein; rab effector Noc2 isoform 1; rab effector Noc2", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:9501)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10395805;11237011;12375017;15003533;17981610;26070152;30429286;31848261;32938616;33968037;34171305", "class_list": "", "function": "Genetic alterations in RPH3AL are associated with aggressive behavior of breast cancers and with short survival of patients. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations of rabphillin-3A-like gene is associated with colorectal cancers, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Rab GTPase effector involved in the late steps of regulated exocytosis, both in endocrine and exocrine cells (By similarity). Acts as a potential RAB3B effector protein in epithelial cells., [UniProtKB, PubMed]; The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [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": 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": "D3DTG7;Q9BSB3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0031267 small GTPase binding;GO:0008092 cytoskeletal protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0045202 synapse;GO:0030658 transport vesicle membrane;GO:0098793 presynapse", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032024 positive regulation of insulin secretion;GO:0042593 glucose homeostasis;GO:0006887 exocytosis;GO:0045956 positive regulation of calcium ion-dependent exocytosis", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9UNE2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57772-1", "uniprot_id": [ { "id": "SELB_HUMAN", "url": "https://www.uniprot.org/uniprot/P57772", "type": "external" } ], "mass": 65305.0, "length": 596, "protein_name": "Selenocysteine-specific elongation factor", "gene_name": "EEFSEC", "organism": "Human", "refseq_name": "selenocysteine-specific elongation factor isoform 2", "refseq_ac": [ { "id": "NP_068756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068756", "type": "external" } ], "gene_names_uniprotkb": "EEFSEC; SELB", "gene_names_refseq": "EEFSEC; EFSEC; NEDPSB; SELB", "protein_names_uniprotkb": "Selenocysteine-specific elongation factor; 3.6.5.-; Elongation factor sec; Eukaryotic elongation factor, selenocysteine-tRNA-specific", "protein_names_refseq": "elongation factor for selenoprotein translation; elongation factor sec; eukaryotic elongation factor selenocysteine-tRNA-specific protein; selenocysteine (Sec)-specific eukaryotic elongation factor; selenocysteine-specific elongation factor isoform 2; selenocysteine-specific elongation factor", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); neurodevelopmental disorder with progressive spasticity and brain abnormalities (MONDO:MONDO:0976233)", "pathway": " (hsa:60678); (R-HSA-2408557)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10970870;11237011;11265756;15317934;15534230;15821744;17142313;18948268;19608919;19767754;20068231;23186163;23481700;24715725;26992070;27708257;27920218;28218747;28510447;28649982;28832583;28877031;28904123;29242379;29437277;29557506;30315122;30410026;30429286;30524438;31217245;31844290;32157095;32350084;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33912179;33968037;34087483;34561969;35012909;35051231;35580925;35709277;36010968;36241641;37217939;37466550;39753114;40307207;40914422;8890909;9431993;9637248", "class_list": "", "function": "Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population. Publication Status: Online-Only, [RefSeq, PubMed]; In this genomewide association study, we found that variants at the EBF1, EEFSEC, AGTR2, WNT4, ADCY5, and RAP2C loci were associated with gestational duration and variants at the EBF1, EEFSEC, and AGTR2 loci with preterm birth. GeneRIF: EEFSEC, which encodes selenocysteine-tRNA specific eukaryotic elongation factor, participates in the incorporation of selenocysteine into selenoproteins. Selenoproteins serve critical cellular homeostatic functions in maintaining redox status and antioxidant defenses, as well as modulating inflammatory responses. These physiologic functions have been linked to the parturition process and preterm birth., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SECIS binding induces a conformational change in SBP2 that recruits eEFSec, which in concert with the Sec incorporation domain gains access to the ribosomal A site, [RefSeq, PubMed]; Translation factor required for the incorporation of the rare amino acid selenocysteine encoded by UGA codons (PubMed:27708257, PubMed:35709277). Replaces the eRF1-eRF3-GTP ternary complex for the insertion of selenocysteine directed by the UGA codon (PubMed:27708257, PubMed:35709277). Insertion of selenocysteine at UGA codons is mediated by SECISBP2 and EEFSEC: SECISBP2 (1) specifically binds the SECIS sequence once the 80S ribosome encounters an in-frame UGA codon and (2) contacts the RPS27A/eS31 of the 40S ribosome before ribosome stalling (PubMed:35709277). (3) GTP-bound EEFSEC then delivers selenocysteinyl-tRNA(Sec) to the 80S ribosome and adopts a preaccommodated state conformation (PubMed:35709277). (4) After GTP hydrolysis, EEFSEC dissociates from the assembly, selenocysteinyl-tRNA(Sec) accommodates, and peptide bond synthesis and selenoprotein elongation occur (PubMed:35709277)., [UniProtKB, PubMed, PubMed]; [EEFSEC knockdown inhibits proliferation, migration and invasion of prostate cancer cells in vitro]., [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": 6, "reported_glycation": 0, "reported_snv": 15, "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": "Q96HZ6", "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": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "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:0035368 selenocysteine insertion sequence binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0043021 ribonucleoprotein complex binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0001514 selenocysteine incorporation", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "P57772-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYZ8-1", "uniprot_id": [ { "id": "REG4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYZ8", "type": "external" } ], "mass": 18230.0, "length": 158, "protein_name": "Regenerating islet-derived protein 4", "gene_name": "REG4", "organism": "Human", "refseq_name": "regenerating islet-derived protein 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001152824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001152824", "type": "external" } ], "gene_names_uniprotkb": "REG4; GISP; RELP", "gene_names_refseq": "GISP; REG-IV; REG4; RELP", "protein_names_uniprotkb": "Regenerating islet-derived protein 4; Gastrointestinal secretory protein; REG-4; REG-like protein; Reg IV; Regenerating islet-derived protein IV", "protein_names_refseq": "REG-4; REG-like protein; gastrointestinal secretory protein; reg IV; regenerating gene type IV; regenerating islet-derived family, member 4; regenerating islet-derived protein 4 isoform 1 precursor; regenerating islet-derived protein 4; regenerating islet-derived protein IV", "tax_id": 9606, "disease": "", "pathway": " (hsa:83998)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;11311942;12455032;12819006;14550954;15340161;15489334;16710414;20692269;26981633;27036049;31428934;31605540;31659102;33639844;34577861;34753802;35929918;35946046;37744296", "class_list": "glycogene", "function": "Calcium-independent lectin displaying mannose-binding specificity and able to maintain carbohydrate recognition activity in an acidic environment. May be involved in inflammatory and metaplastic responses of the gastrointestinal epithelium., [UniProtKB, PubMed, PubMed]; Clinicopathological Significance and Prognostic Implications of REG4 Immunohistochemical Expression in Colorectal Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of Reg IV may be an early event in colorectal carcinogenesis., [RefSeq, PubMed]; Reg4 Interacts with CD44 to Regulate Proliferation and Stemness of Colorectal and Pancreatic Cancer Cells., [RefSeq, PubMed]; Regenerating gene 4 promotes chemoresistance of colorectal cancer by affecting lipid droplet synthesis and assembly., [RefSeq, PubMed]; Results suggest that RELP might be involved in inflammatory and metaplastic responses of the gastrointestinal epithelium., [RefSeq, PubMed]; The effects of REG4 expression on chemoresistance of ovarian cancer., [RefSeq, PubMed]; Upregulation of REG IV gene in human intestinal epithelial cells by lipopolysaccharide via downregulation of microRNA-24., [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": 208, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "diagnostic", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NER6;Q8NER7", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:2001065 mannan binding;GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9BYZ8-1", "record_type": "protein", "filter_code": "1000000.1000101.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6S9-1", "uniprot_id": [ { "id": "RPKL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6S9", "type": "external" } ], "mass": 60036.0, "length": 549, "protein_name": "Ribosomal protein S6 kinase-like 1", "gene_name": "RPS6KL1", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase-like 1 isoform 2", "refseq_ac": [ { "id": "NP_113652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113652", "type": "external" } ], "gene_names_uniprotkb": "RPS6KL1", "gene_names_refseq": "RPS6KL1; RSKL2", "protein_names_uniprotkb": "Ribosomal protein S6 kinase-like 1; 2.7.11.1", "protein_names_refseq": "ribosomal protein S6 kinase-like 1 isoform 2", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:83694)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12471243;17344846;22564745;25576301;29242379;30524438;32938616;34171305;35051231", "class_list": "", "function": "Identified as a pseudokinase and named RSKL2. 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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NGM9;Q69YT9;Q6ZMQ6;Q96NR9;Q9BSU9", "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:0004672 protein kinase activity", "go_cellular_component": "GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9Y6S9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVU7-1", "uniprot_id": [ { "id": "SDA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVU7", "type": "external" } ], "mass": 79871.0, "length": 687, "protein_name": "Protein SDA1 homolog", "gene_name": "SDAD1", "organism": "Human", "refseq_name": "protein SDA1 homolog isoform 2", "refseq_ac": [ { "id": "NP_001275912", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275912", "type": "external" } ], "gene_names_uniprotkb": "SDAD1; NUC130", "gene_names_refseq": "SDAD1; Sda1", "protein_names_uniprotkb": "Protein SDA1 homolog; Nucleolar protein 130; SDA1 domain-containing protein 1; hSDA", "protein_names_refseq": "SDA1 domain-containing protein 1; nucleolar protein 130; protein SDA1 homolog isoform 2; protein SDA1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:55153)", "pathway_count": 1, "publication_count": 91, "publication_id_list": "11237011;11790298;14976432;15607425;15753903;17081983;18220336;18491316;18669648;18691976;18767875;19007248;19413330;19415658;19651622;19664994;19664995;19691289;20058876;20068231;20230923;21406692;23186163;24275569;24714562;25418920;25576301;25645385;25802875;25880248;26154972;26728094;26768311;26811146;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28725241;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30833945;31154438;31217245;31844290;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33717175;33912179;33936100;33968037;34171305;34185709;34509645;34561969;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37217939", "class_list": "", "function": "HSDA is the human ortholog of the yeast SDA1 gene, [RefSeq, PubMed]; MiR-378 inhibits the proliferation, migration and invasion of colon cancer cells by targeting SDAD1. Publication Status: Online-Only, [RefSeq, PubMed]; PUM2 and DAZL, are capable of binding the same mRNA sequences in the 3'UTR of human SDAD1 mRNA., [RefSeq, PubMed]; Required for 60S pre-ribosomal subunits export to the cytoplasm., [UniProtKB, UniProtKB, UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 25, "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": "Q32Q11;Q68D52;Q7Z5U4;Q9H831;Q9H9P6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0000055 ribosomal large subunit export from nucleus;GO:0015031 protein transport;GO:0042273 ribosomal large subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9NVU7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15446-1", "uniprot_id": [ { "id": "RPA34_HUMAN", "url": "https://www.uniprot.org/uniprot/O15446", "type": "external" } ], "mass": 54986.0, "length": 510, "protein_name": "DNA-directed RNA polymerase I subunit RPA34", "gene_name": "POLR1G", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase I subunit RPA34 isoform 1", "refseq_ac": [ { "id": "NP_001284519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284519", "type": "external" } ], "gene_names_uniprotkb": "POLR1G; ASE1; CAST; CD3EAP; PAF49", "gene_names_refseq": "ASE-1; ASE1; CAST; CD3EAP; PAF49; POLR1G; RPA34", "protein_names_uniprotkb": "DNA-directed RNA polymerase I subunit RPA34; A34.5; ASE-1; Antisense to ERCC-1 protein; CD3-epsilon-associated protein; CD3E-associated protein; DNA-directed RNA polymerase I subunit G; RNA polymerase I-associated factor PAF49", "protein_names_refseq": "CD3e antigen, epsilon polypeptide associated protein; CD3e molecule associated protein; CD3e molecule, epsilon associated protein; DNA-directed RNA polymerase I subunit G; DNA-directed RNA polymerase I subunit RPA34 isoform 1; DNA-directed RNA polymerase I subunit RPA34; RNA polymerase I-associated factor PAF49; antisense to ERCC-1 protein", "tax_id": 9606, "disease": "multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:10849); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)", "pathway_count": 6, "publication_count": 69, "publication_id_list": "10082553;10373416;10471499;10913176;11237011;11250901;12393749;12646563;14610093;14969726;15302935;1547496;15558034;16514417;16603771;16809778;16964243;17081983;17318177;17355984;17525332;18452278;18669648;19413330;19415658;19664994;19664995;19690332;19838300;20058876;20068231;21406692;21559432;22805593;23186163;23555303;23667505;24901984;24952918;25114211;25218447;25755297;25772364;25916849;27418187;27418309;2805069;28218747;29242379;30192525;32157095;33214551;33717175;33968037;34671025;34887565;35051231;35351459;36215666;36271492;36526675;37147350;37217939;37356716;7491500;7597036;7801123;9426281;9582279", "class_list": "", "function": "ASE-1 co-localises with the RNA polymerase I transcription initiation factor UBF/NOR-90 throughout all stages of the cell cycle and these two proteins associate with each other in vitro., [RefSeq, PubMed]; Common variants of pro-inflammatory gene IL1B and interactions with PPP1R13L and POLR1G in relation to lung cancer among Northeast Chinese. Publication Status: Online-Only, [RefSeq, PubMed]; Component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Involved in UBTF-activated transcription, presumably at a step following PIC formation., [UniProtKB, PubMed, PubMed, PubMed]; Has been described as a component of preformed T-cell receptor (TCR) complex., [UniProtKB, PubMed]; PAF49: An RNA Polymerase I subunit essential for rDNA transcription and stabilization of PAF53., [RefSeq, PubMed]; STAT3 potentiates RNA polymerase I-directed transcription and tumor growth by activating RPA34 expression., [RefSeq, PubMed]; TP53 common variants and interaction with PPP1R13L and CD3EAP SNPs and lung cancer risk and smoking behavior 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": 22, "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": "Q32N11;Q7Z5U2;Q9UPF6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0001650 fibrillar center;GO:0005694 chromosome", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0009303 rRNA transcription;GO:0006362 transcription elongation by RNA polymerase I;GO:0006361 transcription initiation at RNA polymerase I promoter;GO:0006363 termination of RNA polymerase I transcription", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O15446-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VDG4-1", "uniprot_id": [ { "id": "SCRN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VDG4", "type": "external" } ], "mass": 48544.0, "length": 424, "protein_name": "Secernin-3", "gene_name": "SCRN3", "organism": "Human", "refseq_name": "secernin-3 isoform 2", "refseq_ac": [ { "id": "NP_001180457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180457", "type": "external" } ], "gene_names_uniprotkb": "SCRN3", "gene_names_refseq": "SCRN3; SES3", "protein_names_uniprotkb": "Secernin-3", "protein_names_refseq": "secernin-3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79634)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;22464252;28218747;28221344;28514659;30429286;31848261;32157095;32350084;33298915;33592498;33968037;35580925;36241641", "class_list": "", "function": "Plays a role in thermal nociception., [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": 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": "B4DI11;C9JPC1;D3DPE0;Q7L1C5;Q9H5R5", "ec_number_list": [], "go_molecular_function": "GO:0016805 dipeptidase activity;GO:0070004 cysteine-type exopeptidase activity", "go_cellular_component": "", "go_biological_process": "GO:0006508 proteolysis;GO:0050965 detection of temperature stimulus involved in sensory perception of pain", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q0VDG4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78381-1", "uniprot_id": [ { "id": "S35A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P78381", "type": "external" } ], "mass": 41307.0, "length": 396, "protein_name": "UDP-galactose translocator", "gene_name": "SLC35A2", "organism": "Human", "refseq_name": "UDP-galactose translocator isoform b", "refseq_ac": [ { "id": "NP_001027460", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027460", "type": "external" } ], "gene_names_uniprotkb": "SLC35A2; UGALT; UGTL; UGT", "gene_names_refseq": "CDG2M; CDGX; SLC35A2; UDP-Gal-Tr; UGALT; UGAT; UGT1; UGT2; UGTL; UGT", "protein_names_uniprotkb": "UDP-galactose translocator; Solute carrier family 35 member A2; UDP-Gal-Tr; UDP-galactose transporter; UGT", "protein_names_refseq": "UDP-galactose translocator isoform b; UDP-galactose translocator; solute carrier family 35 (UDP-galactose transporter), member 2; solute carrier family 35 (UDP-galactose transporter), member A2", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIm (Disease Ontology:DOID:0070265); bacterial infectious disease (Disease Ontology:DOID:104)", "pathway": " (hsa:7355); (R-HSA-5619072); (R-HSA-727802)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10393322;11237011;11784306;12682060;15082721;15607426;15911612;15932921;16959974;23089177;23561849;24115232;24715725;25502872;25645385;25778940;25877686;26154972;26350515;26740508;26992070;27862975;27920218;28167211;28218747;28228285;28832583;28904123;29242379;29314611;29493099;29557506;29679388;29789417;30484775;30817854;30834435;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32827291;32897882;32938616;33141586;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34161696;34171305;34211107;34357683;34384782;35051231;35318648;35561310;35580925;36010968;36241641;36307217;36454514;36933771;37069668;37739137;38143314;8128316;8889805;9010752", "class_list": "glycogene", "function": "Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene., [RefSeq, PubMed]; Nucleotide sugar transporter SLC35A2 is involved in promoting hepatocellular carcinoma metastasis by regulating cellular glycosylation., [RefSeq, PubMed]; SLC35A2 deficiency reduces protein levels of core 1 beta-1,3-galactosyltransferase 1 (C1GalT1) and its chaperone Cosmc and affects their subcellular localization., [RefSeq, PubMed]; SLC35A2 expression drives breast cancer progression via ERK pathway activation., [RefSeq, PubMed]; SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE. Review article, [RefSeq, PubMed]; This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014]., [RefSeq]; Transports uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges UDP-galactose for UMP (PubMed:12682060, PubMed:9010752). It is also able to exchange UDP-galactose for AMP and CMP, and to transport UDP-N-acetylgalactosamine (UDP-GalNAc) and other nucleotide sugars (PubMed:11784306, PubMed:12682060). As a provider of UDP-galactose to galactosyltransferases present in the Golgi apparatus, it is necessary for globotriaosylceramide/globoside (Gb3Cer) synthesis from lactosylceramide (PubMed:30817854)., [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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_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": 27, "reported_glycation": 0, "reported_snv": 328, "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": "A8K2L9;A8K9V1;B4DE11;B4DPT2;E7EW45;Q8IV21;Q92553", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0005459 UDP-galactose transmembrane transporter activity;GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006012 galactose metabolic process;GO:0072334 UDP-galactose transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P78381-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000010000000.010.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVA2-1", "uniprot_id": [ { "id": "SEP11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVA2", "type": "external" } ], "mass": 49398.0, "length": 429, "protein_name": "Septin-11", "gene_name": "SEPTIN11", "organism": "Human", "refseq_name": "septin-11 isoform 1", "refseq_ac": [ { "id": "NP_001293076", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293076", "type": "external" } ], "gene_names_uniprotkb": "SEPTIN11; SEPT11", "gene_names_refseq": "SEPT11; SEPTIN11; Septin-11", "protein_names_uniprotkb": "Septin-11", "protein_names_refseq": "epididymis secretory sperm binding protein; septin-11 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55752)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "11237011;12665801;14999297;15196925;15485874;15915442;17546647;18047794;19145258;19234302;20068231;20736409;23186163;23301498;24366607;24397554;24714562;25367160;25502872;25576301;25810538;26154972;26375851;26992070;27543614;27600516;27846572;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29331515;29557506;30315122;30484775;30524438;30779550;31154438;31217245;31530632;31844290;31848261;32157095;32350084;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33717175;33912179;33936100;33968037;33981976;34019948;34229054;34357683;34561969;34725712;34932366;35051231;35251023;35580925;36010968;36241641;36284347;37080972;37217939;37349244;38665916;40596516", "class_list": "", "function": "Downregulation of SEPTIN11 inhibits endometrial epithelial cell adhesive function in patients with elevated peripheral blood natural killer cell counts., [RefSeq, PubMed]; Filament-forming cytoskeletal GTPase., [UniProtKB, UniProtKB, UniProtKB]; Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential). May play a role in the cytoarchitecture of neurons, including dendritic arborization and dendritic spines, and in GABAergic synaptic connectivity (By similarity). During Listeria monocytogenes infection, not required for the bacterial entry process, but restricts its efficacy., [UniProtKB, PubMed, PubMed]; SEPT11 belongs to the conserved septin family of filament-forming cytoskeletal GTPases that are involved in a variety of cellular functions including cytokinesis and vesicle trafficking (Hanai et al., 2004 [PubMed 15196925]; Nagata et al., 2004 [PubMed 15485874]).[supplied by OMIM, Jul 2009]., [RefSeq]; Septin11 promotes hepatocellular carcinoma cell motility by activating RhoA to regulate cytoskeleton and cell adhesion. 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": 1, "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": "B7Z7Z6;E9KL32;Q4W5G1;Q7L4N1;Q96SP1;Q9UFY9", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005940 septin ring;GO:0030424 axon;GO:0043197 dendritic spine;GO:0015630 microtubule cytoskeleton;GO:0001725 stress fiber", "go_biological_process": "GO:0008104 intracellular protein localization;GO:0061640 cytoskeleton-dependent cytokinesis", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9NVA2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C264-1", "uniprot_id": [ { "id": "SBK3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C264", "type": "external" } ], "mass": 38488.0, "length": 359, "protein_name": "Uncharacterized serine/threonine-protein kinase SBK3", "gene_name": "SBK3", "organism": "Human", "refseq_name": "uncharacterized serine/threonine-protein kinase SBK3", "refseq_ac": [ { "id": "NP_001186753", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186753", "type": "external" } ], "gene_names_uniprotkb": "SBK3; SGK110", "gene_names_refseq": "SBK3; SGK110", "protein_names_uniprotkb": "Uncharacterized serine/threonine-protein kinase SBK3; 2.7.11.1; SH3 domain-binding kinase family member 3; Sugen kinase 110", "protein_names_refseq": "SH3-binding domain kinase family member 3; Serine/threonine-protein kinase SBK3; Sugen kinase 110; uncharacterized serine/threonine-protein kinase SBK3", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130827)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;12471243", "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": [ { "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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0C264-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14206-1", "uniprot_id": [ { "id": "RCAN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14206", "type": "external" } ], "mass": 21997.0, "length": 197, "protein_name": "Calcipressin-2", "gene_name": "RCAN2", "organism": "Human", "refseq_name": "calcipressin-2 isoform 2", "refseq_ac": [ { "id": "NP_001238902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001238902", "type": "external" } ], "gene_names_uniprotkb": "RCAN2; DSCR1L1; ZAKI4", "gene_names_refseq": "CSP2; DSCR1L1; MCIP2; RCAN2; ZAKI-4; ZAKI4", "protein_names_uniprotkb": "Calcipressin-2; Down syndrome candidate region 1-like 1; MCIP2; Myocyte-enriched calcineurin-interacting protein 2; Regulator of calcineurin 2; Thyroid hormone-responsive protein ZAKI-4", "protein_names_refseq": "Down syndrome candidate region 1-like 1; Down syndrome critical region gene 1-like 1; calcipressin-2 isoform 2; calcipressin-2; myocyte-enriched calcineurin-interacting protein 2; thyroid hormone-responsive (skin fibroblasts); thyroid hormone-responsive protein ZAKI-4", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); cholestasis (Disease Ontology:DOID:13580); Down syndrome (Disease Ontology:DOID:14250); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:10231)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "12102656;17610901;23481700;25576301;27846572;29557506;31154438;35733783;36284347;37535148;37918583;39082336;8662924", "class_list": "", "function": "Association Between Circulating Regulator of Calcineurin 2 Concentrations With Overweight and Obesity. Publication Status: Online-Only, [RefSeq, PubMed]; CircIQGAP1 regulates RCAN1 and RCAN2 through the mechanism of ceRNA and promotes the growth of malignant glioma. Erratum:[Pharmacol Res. 2024 Jan;199:107021. doi: 10.1016/j.phrs.2023.107021. PMID: 38042685], [RefSeq, PubMed]; DSCR1-L1 is constitutively expressed in endothelial cells and acts similar to DSCR1 in inhibiting calcineurin activity and restraining VEGF-mediated angiogenesis., [RefSeq, PubMed]; Inhibits calcineurin-dependent transcriptional responses by binding to the catalytic domain of calcineurin A. Could play a role during central nervous system development., [UniProtKB]; TMB Signature-Related RCAN2 Promotes Apoptosis by Upregulating EHF/DR5 Pathway in Hepatocellular Carcinoma., [RefSeq, PubMed]; The expression of ZAKI-4 isoforms is subjected to distinct hormonal as well as tissue-specific regulation, constituting a complex signalling network through inhibition of calcineurin., [RefSeq, PubMed]; This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; USP7-mediated JUND suppresses RCAN2 transcription and elevates NFATC1 to enhance stem cell property in colorectal 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6ND07;B3KR46;Q5VWF7;Q5VWF8;Q8N116", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding;GO:0008597 calcium-dependent protein serine/threonine phosphatase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0019722 calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q14206-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47914-1", "uniprot_id": [ { "id": "RL29_HUMAN", "url": "https://www.uniprot.org/uniprot/P47914", "type": "external" } ], "mass": 17752.0, "length": 159, "protein_name": "Large ribosomal subunit protein eL29", "gene_name": "RPL29", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL29", "refseq_ac": [ { "id": "NP_000983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000983", "type": "external" } ], "gene_names_uniprotkb": "RPL29", "gene_names_refseq": "HIP; HUMRPL29; L29; RPL29P10; RPL29_3_370; RPL29; eL29", "protein_names_uniprotkb": "Large ribosomal subunit protein eL29; 60S ribosomal protein L29; Cell surface heparin-binding protein HIP", "protein_names_refseq": "60S ribosomal protein L29; HP/HS-interacting protein; cell surface heparin-binding protein HIP; heparin/heparan sulfate-binding protein; heparin/heparan sulfate-interacting protein; large ribosomal subunit protein eL29; ribosomal protein YL43 homologue", "tax_id": 9606, "disease": "", "pathway": " (hsa:6159); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 253, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22190735;22195017;22645359;22916032;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23685075;23746841;2388630;24129315;24275569;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25502872;25525153;25576301;25578875;25810538;25969445;26024233;26237581;26992070;27526673;27846572;28065601;28132843;28510447;28685749;28904123;29413899;29493099;29557506;29632312;30244831;30293783;30315122;30379171;30444036;30573663;30804176;30833945;31011209;31154438;31217245;31222486;31373491;31611695;31717259;31844290;31882427;32099016;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32579943;32669547;32798643;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33406423;33592498;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34357683;34509645;34561969;35051231;35083852;35138101;35251023;35318648;35526384;35561310;35580925;36215666;36284347;36302773;37217939;37676773;37938771;38665916;40596516;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8597591;8662616;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB]; RPL29 is upregulated in the gingival squamous cell carcinoma.RPL29 role in the cell proliferation of the gingival squamous cell carcinoma., [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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a cytoplasmic ribosomal protein that is a component of the 60S subunit. The protein belongs to the L29E family of ribosomal proteins. The protein is also a peripheral membrane protein expressed on the cell surface that directly binds heparin. Although this gene was previously reported to map to 3q29-qter, it is believed that it is located at 3p21.3-p21.2. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; The human ribosomal protein eL29 binds in vivo to the cognate mRNA by interacting with its coding sequence, as revealed from in-cell cross-linking 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": 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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K0H3;B2R4M8;Q6IPY3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008201 heparin binding;GO:0045296 cadherin binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0007566 embryo implantation", "synthesized_glycan_count": 0, "hit_score": 25.9, "record_id": "P47914-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VAM2-1", "uniprot_id": [ { "id": "RGF1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VAM2", "type": "external" } ], "mass": 55359.0, "length": 473, "protein_name": "Ras-GEF domain-containing family member 1B", "gene_name": "RASGEF1B", "organism": "Human", "refseq_name": "ras-GEF domain-containing family member 1B isoform 2", "refseq_ac": [ { "id": "NP_001287664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287664", "type": "external" } ], "gene_names_uniprotkb": "RASGEF1B; GPIG4", "gene_names_refseq": "GPIG4; RASGEF1B", "protein_names_uniprotkb": "Ras-GEF domain-containing family member 1B; GPI gamma-4", "protein_names_refseq": "GPI gamma-4; ras-GEF domain-containing family member 1B isoform 2; ras-GEF domain-containing family member 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:153020)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;12488504;19645719;22303795;23894443;26992070;27362560;27862975;28834231;29331515;29393594;29557506;29632711;29786170;30779550;31044621;31154438;31844290;31848261;32161166;32502341;32938616;32983136;33691108;33936100;33968037;34185709;35051231;35580925;36010968;36284347", "class_list": "", "function": "As an addition to PRKG2 and RASGEFIB genes, we propose to include BMP3 gene as the principal determinant of the observed common phenotype. Review article, [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, it doesn't seems to activate other Ras family proteins (in vitro)., [UniProtKB, PubMed, PubMed]; Mutation of the Ser39 in Rap1 changed the specificity and allowed the nucleotide exchange of Rap1(S39F) to be stimulated by RasGEF1B, [RefSeq, PubMed]; Study provides evidence for two novel candidate genes, SPG7 and RASGEF1B, associating with white coat effect, [RefSeq, PubMed]; We show that knockdown of the expression of mcircRasGEF1B reduces LPS-induced ICAM-1 expression. Additionally, we demonstrate that mcircRasGEF1B regulates the stability of mature ICAM-1 mRNAs., [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": "Q0VAM1;Q4W5L7;Q4W5M3;Q96MY8", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005886 plasma membrane;GO:0005770 late endosome;GO:0030496 midbody", "go_biological_process": "GO:0007265 Ras protein signal transduction;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q0VAM2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y291-1", "uniprot_id": [ { "id": "RT33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y291", "type": "external" } ], "mass": 12629.0, "length": 106, "protein_name": "Small ribosomal subunit protein mS33", "gene_name": "MRPS33", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS33", "refseq_ac": [ { "id": "NP_057155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057155", "type": "external" } ], "gene_names_uniprotkb": "MRPS33; CGI-139; PTD003", "gene_names_refseq": "CGI-139; MRP-S33; MRPS33; PTD003; S33mt; mS33", "protein_names_uniprotkb": "Small ribosomal subunit protein mS33; 28S ribosomal protein S33, mitochondrial; MRP-S33; S33mt", "protein_names_refseq": "28S ribosomal protein S33, mitochondrial; mitochondrial small ribosomal subunit protein mS33; small ribosomal subunit protein mS33", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:51650); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 64, "publication_id_list": "11237011;11279123;15358359;17803939;18429816;18782833;18991276;19524667;19716793;20186120;20877624;21872626;21907147;22172991;22223895;2250005;22544926;22645359;24714562;24715725;25233460;25838379;26992070;27029019;27846572;28892042;29437277;29493099;31154438;31844290;31848261;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33243891;33298915;33392160;33592498;33717175;33878294;33912179;33936100;33968037;34185709;34357683;34509645;34561969;34932366;35051231;35580925;36010968;36302763;36596788;37141370;37938771;38253038;40596516", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008]., [RefSeq]; 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": 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": 4, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q9Y291-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92766-1", "uniprot_id": [ { "id": "RREB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92766", "type": "external" } ], "mass": 181420.0, "length": 1687, "protein_name": "Ras-responsive element-binding protein 1", "gene_name": "RREB1", "organism": "Human", "refseq_name": "ras-responsive element-binding protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001003698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003698", "type": "external" } ], "gene_names_uniprotkb": "RREB1; FINB", "gene_names_refseq": "FINB; HNT; LZ321; RREB-1; RREB1; Zep-1", "protein_names_uniprotkb": "Ras-responsive element-binding protein 1; Finger protein in nuclear bodies; RREB-1; Raf-responsive zinc finger protein LZ321; Zep-1; Zinc finger motif enhancer-binding protein 1", "protein_names_refseq": "DNA-binding protein; finger protein in nuclear bodies; hindsight homolog; raf-responsive zinc finger protein LZ321; ras-responsive element-binding protein 1 isoform 2; zinc finger motif enhancer-binding protein 1", "tax_id": 9606, "disease": "RASopathy (Disease Ontology:DOID:0080690)", "pathway": " (hsa:6239)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "10390538;11237011;12482979;15067362;15302935;17081983;17525332;17550981;18452278;18669648;19413330;19651622;19664994;19690332;20058876;20068230;20068231;21406692;21703425;22898188;23186163;23481700;24275569;24715725;25114211;25218447;25418920;25576301;25755297;25772364;26992070;27600516;27846572;27920218;28514659;28832583;28834231;29242379;29393594;29557506;29786170;30315122;30379171;30484775;30620550;30784271;30833945;31154438;31217245;31844290;31848261;32157095;32387766;32502341;32938616;32938750;32983136;33123756;33141586;33298915;33592498;33717175;33912179;33968037;34087483;34171305;34509645;35051231;35132862;35254053;35494241;35513511;35580925;36010968;36215666;36241641;36284347;36633628;36635261;37596700;38253038;39278095;39405927;39531497;39534244;40307207;40596516;8816445;9305772", "class_list": "", "function": "A novel interaction between RNA m[6]A methyltransferase METTL3 and RREB1., [RefSeq, PubMed]; LncRNA SNHG4 promotes prostate cancer cell survival and resistance to enzalutamide through a let-7a/RREB1 positive feedback loop and a ceRNA network. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of RREB1 in pancreatic beta cells reduces cellular insulin content and affects endocrine cell gene expression., [RefSeq, PubMed]; RREB1 could act as an immunological and prognostic biomarker: From comprehensive analysis to osteosarcoma validation., [RefSeq, PubMed]; The U2AF65/circNCAPG/RREB1 feedback loop promotes malignant phenotypes of glioma stem cells through activating the TGF-beta pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger transcription factor that binds to RAS-responsive elements (RREs) of gene promoters. It has been shown that the calcitonin gene promoter contains an RRE and that the encoded protein binds there and increases expression of calcitonin, which may be involved in Ras/Raf-mediated cell differentiation. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]., [RefSeq]; Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters (PubMed:10390538, PubMed:15067362, PubMed:17550981, PubMed:8816445, PubMed:9305772). Represses the angiotensinogen gene (PubMed:15067362). Negatively regulates the transcriptional activity of AR (PubMed:17550981). Potentiates the transcriptional activity of NEUROD1 (PubMed:12482979). Promotes brown adipocyte differentiation (By similarity). May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression (PubMed:8816445)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, 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": 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": 34, "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": 14, "binding_glycan_count": 0, "secondary_ac_list": "A2RRF5;E2GM80;E2GM81;O75567;O75568;Q5VYB2;Q6BEP5;Q6BEP6;Q6BEP8;Q86SU2;Q9Y474", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0070062 extracellular exosome;GO:0016604 nuclear body", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;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;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q92766-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30876-1", "uniprot_id": [ { "id": "RPB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P30876", "type": "external" } ], "mass": 133897.0, "length": 1174, "protein_name": "DNA-directed RNA polymerase II subunit RPB2", "gene_name": "POLR2B", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB2 isoform 1", "refseq_ac": [ { "id": "NP_000929", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000929", "type": "external" } ], "gene_names_uniprotkb": "POLR2B", "gene_names_refseq": "POL2RB; POLR2B; RPB2; hRPB140", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB2; 2.7.7.48; 2.7.7.6; 3'-5' exoribonuclease; 3.1.13.-; DNA-directed RNA polymerase II 140 kDa polypeptide; DNA-directed RNA polymerase II subunit B; RNA polymerase II subunit 2; RNA polymerase II subunit B2; RNA-directed RNA polymerase II subunit RPB2", "protein_names_refseq": "3'-5' exoribonuclease; DNA-directed RNA polymerase II 140 kDa polypeptide; DNA-directed RNA polymerase II subunit B; DNA-directed RNA polymerase II subunit RPB2 isoform 1; DNA-directed RNA polymerase II subunit RPB2; RNA polymerase II second largest subunit; RNA polymerase II subunit 2; RNA polymerase II subunit B2; RNA-directed RNA polymerase II subunit RPB2; polymerase (RNA) II (DNA directed) polypeptide B, 140kDa; polymerase (RNA) II subunit B", "tax_id": 9606, "disease": "", "pathway": " (hsa:5431); (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": 669, "publication_id_list": 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"class_list": "", "function": "ARS2/SRRT: at the nexus of RNA polymerase II transcription, transcript maturation and quality control. Review article, [RefSeq, PubMed]; Catalytic 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 (By similarity) (PubMed:27193682, PubMed:30190596, PubMed:9852112). Pol II-mediated transcription cycle proceeds through transcription initiation, transcription elongation and transcription termination stages. During transcription initiation, Pol II pre-initiation complex (PIC) is recruited to DNA promoters, with focused-type promoters containing either the initiator (Inr) element, or the TATA-box found in cell-type specific genes and dispersed-type promoters that often contain hypomethylated CpG islands usually found in housekeeping genes. Once the polymerase has escaped from the promoter it enters the elongation phase during which RNA is actively polymerized, based on complementarity with the template DNA strand. Transcription termination involves the release of the RNA transcript and polymerase from the DNA (PubMed:27193682, PubMed:30190596, PubMed:9852112). Forms Pol II active center together with the largest subunit POLR2A/RPB1. Appends one nucleotide at a time to the 3' end of the nascent RNA, with POLR2A/RPB1 most likely contributing a Mg(2+)-coordinating DxDGD motif and POLR2B/RPB2 participating in the coordination of a second Mg(2+) ion and providing lysine residues believed to facilitate Watson-Crick base pairing between the incoming nucleotide and template base. Typically, Mg(2+) ions direct a 5' nucleoside triphosphate to form a phosphodiester bond with the 3' hydroxyl of the preceding nucleotide of the nascent RNA, with the elimination of pyrophosphate. The reversible pyrophosphorolysis can occur at high pyrophosphate concentrations (By similarity) (PubMed:30190596, PubMed:9852112). Can proofread the nascent RNA transcript by means of a 3' -> 5' exonuclease activity. If a ribonucleotide is mis-incorporated, backtracks along the template DNA and cleaves the phosphodiester bond releasing the mis-incorporated 5'-ribonucleotide (By similarity) (PubMed:8381534)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates., [UniProtKB, UniProtKB, UniProtKB]; M6A-methylated circPOLR2B forms an R-loop and regulates the biological behavior of glioma stem cells through positive feedback loops. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-dependent RNA polymerase that catalyzes the extension of a non-coding RNA (ncRNA) at the 3'-end using the four ribonucleoside triphosphates as substrates. An internal ncRNA sequence near the 3'-end serves as a template in a single-round Pol II-mediated RNA polymerization reaction. May decrease the stability of ncRNAs that repress Pol II-mediated gene transcription., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; The RNA polymerase II subunit B (RPB2) functions as a growth regulator in human glioblastoma., [RefSeq, PubMed]; This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. 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": 7, "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": "A8K1A8;Q8IZ61", "ec_number_list": [ { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "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.-", "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": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.56", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "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": "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "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": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "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": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "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": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "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": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" }, { "id": "2.7.7.52", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.52", "type": "external" }, { "id": "3.1.26.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.n2", "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:0003968 RNA-directed RNA polymerase activity;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane;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:0006354 DNA-templated transcription elongation;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 67.2, "record_id": "P30876-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62244-1", "uniprot_id": [ { "id": "RS15A_HUMAN", "url": "https://www.uniprot.org/uniprot/P62244", "type": "external" } ], "mass": 14840.0, "length": 130, "protein_name": "Small ribosomal subunit protein uS8", "gene_name": "RPS15A", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS8", "refseq_ac": [ { "id": "NP_001010", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010", "type": "external" } ], "gene_names_uniprotkb": "RPS15A; SW-cl.82", "gene_names_refseq": "DBA20; RPS15A; S15a; uS8", "protein_names_uniprotkb": "Small ribosomal subunit protein uS8; 40S ribosomal protein S15a", "protein_names_refseq": "40S ribosomal protein S15a; small ribosomal subunit protein uS8; up-regulated by HBV X protein", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); Diamond-Blackfan anemia 20 (Disease Ontology:DOID:0111891)", "pathway": " (hsa:6210); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 287, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11466336;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15104674;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;15944288;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22174690;22190735;22195017;22424782;22544926;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23301498;23439679;23481700;23482395;23555621;23636399;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25525153;25576301;25645385;25969445;26154972;26237581;26811146;26929215;26992070;27452731;27526673;27600516;27846572;27909223;27920218;28063628;28065601;28132843;28228285;28510447;28649982;28685749;28832583;28904123;29242379;29393594;29413899;29493099;29508533;29557506;29632046;29786170;29789417;30293783;30315122;30410026;30524438;30779550;30804176;31217245;31530632;31611695;31844290;31937595;31998317;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32522876;32579943;32680882;32908316;32938616;32995776;32995777;33043033;33080218;33091337;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33691108;33936100;33968037;33981976;34019948;34087483;34156695;34171305;34315815;34357683;34373319;34509645;34516797;34624207;34725712;34932366;35051231;35138101;35154160;35251023;35580925;36010968;36215666;36302773;36610391;37016167;37069746;37217939;37938771;38665916;38988047;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8185605;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399). 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). Required for proper erythropoiesis (PubMed:27909223)., [UniProtKB, PubMed, PubMed, PubMed]; FOXN3 inhibits the progression of ovarian cancer through negatively regulating the expression of RPS15A., [RefSeq, PubMed]; MCM8 promotes gastric cancer progression through RPS15A and predicts poor prognosis., [RefSeq, PubMed]; MicroRNA-147b induces neuroendocrine differentiation of prostate cancer cells by targeting ribosomal protein RPS15A., [RefSeq, PubMed]; Ribosomal protein RPS15A augments proliferation of colorectal cancer RKO cells via regulation of BIRC3, p38 MAPK and Chk1., [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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P39027;P39031;Q3MHD9;Q8C023;Q9BV24", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0009615 response to virus;GO:0006412 translation;GO:0045787 positive regulation of cell cycle;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 29.0, "record_id": "P62244-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2D2-1", "uniprot_id": [ { "id": "S35A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2D2", "type": "external" } ], "mass": 35985.0, "length": 325, "protein_name": "UDP-N-acetylglucosamine transporter", "gene_name": "SLC35A3", "organism": "Human", "refseq_name": "UDP-N-acetylglucosamine transporter isoform 2", "refseq_ac": [ { "id": "NP_001258613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258613", "type": "external" } ], "gene_names_uniprotkb": "SLC35A3", "gene_names_refseq": "AMRS; SLC35A3", "protein_names_uniprotkb": "UDP-N-acetylglucosamine transporter; Golgi UDP-GlcNAc transporter; Solute carrier family 35 member A3", "protein_names_refseq": "UDP-N-acetylglucosamine transporter isoform 2; golgi UDP-GlcNAc transporter; solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3; solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3", "tax_id": 9606, "disease": "autism spectrum disorder - epilepsy - arthrogryposis syndrome (MONDO:MONDO:0014248)", "pathway": " (hsa:23443); (R-HSA-5619083); (R-HSA-727802)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10393322;11237011;11784306;15082721;15607426;15911612;16344554;16691598;23089177;23583405;23766508;24031089;25576301;25645385;26154972;26375851;26992070;27397612;27846572;27862975;28167211;28218747;28228285;28328131;28514659;28777481;28832583;28834231;28904123;29331515;29393594;29437277;29508533;29557506;29786170;29789417;30315122;30779550;30833945;31092671;31844290;32157095;32350084;32387766;32488085;32502341;32700771;32938616;32938718;32983136;33298915;33392160;33418078;33592498;33717175;33912179;33968037;33981976;34171305;34357683;34509645;34981577;35051231;35251023;35580925;36010968;36215666;36284347;37938771;38172565;8889805", "class_list": "glycogene", "function": "A mutation in the SLC35A3 gene is associated with vertebral malformations in cattle. A missense mutation likely effects signal transduction which relies on glycosylation., [RefSeq, PubMed]; Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3., [RefSeq, PubMed]; Colorectal cancer with low SLC35A3 is associated with immune infiltrates and poor prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of HIF-dependent alternative splicing in gastrointestinal cancers and characterization of a long, coding isoform of SLC35A3., [RefSeq, PubMed]; Probable membrane-bound transporter. May play a role in neuronal nutrient sensing and energy homeostasis. Required for the final stages of spermatogenesis., [UniProtKB, UniProtKB]; SLC35A3 is an unlikely candidate for the pathogenesis of vertebral malformations because no mutation was found in this cohort study., [RefSeq, PubMed]; Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies. Erratum:[J Inherit Metab Dis. 2022 Nov;45(6):1206. doi: 10.1002/jimd.12424. PMID: 36343938], [RefSeq, PubMed]; The data further supports the hypothesis that UGT and NGT cooperate in the UDP-Gal delivery for glycosyltransferases located in the Golgi apparatus., [RefSeq, PubMed]; This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]., [RefSeq]; Transports diphosphate-N-acetylglucosamine (UDP-GlcNAc) from the cytosol into the lumen of the Golgi apparatus, functioning as an antiporter that exchanges UDP-N-acetyl-alpha-D-glucosamine for UMP (PubMed:10393322). May supply UDP-GlcNAc as substrate for Golgi-resident glycosyltransferases that generate highly branched, multiantennary complex N-glycans and keratan sulfate (PubMed:23766508, PubMed:34981577). However, the exact role of SLC35A3 still needs to be elucidated, it could be a member of a catalytically more efficient multiprotein complex rather than function independently as a single transporter (PubMed:32938718)., [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": 318, "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": "A8K3F8;D3DT54;Q68CR2;Q9BSB7", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0005459 UDP-galactose transmembrane transporter activity;GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity;GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0055085 transmembrane transport;GO:0006047 UDP-N-acetylglucosamine metabolic process;GO:1990569 UDP-N-acetylglucosamine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9Y2D2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22090-1", "uniprot_id": [ { "id": "RS4Y1_HUMAN", "url": "https://www.uniprot.org/uniprot/P22090", "type": "external" } ], "mass": 29456.0, "length": 263, "protein_name": "Small ribosomal subunit protein eS4, Y isoform 1", "gene_name": "RPS4Y1", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS4, Y isoform 1", "refseq_ac": [ { "id": "NP_000999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000999", "type": "external" } ], "gene_names_uniprotkb": "RPS4Y1; PRO2646; RPS4Y", "gene_names_refseq": "RPS4Y1; RPS4Y; S4", "protein_names_uniprotkb": "Small ribosomal subunit protein eS4, Y isoform 1; 40S ribosomal protein S4", "protein_names_refseq": "40S ribosomal protein S4, Y; ribosomal protein S4, Y-linked; ribosomal protein S4Y; small ribosomal subunit protein eS4, Y isoform 1; small ribosomal subunit protein eS4, Y; small ribosomal subunit protein eS4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6192); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 224, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12944060;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15755990;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;2124517;21419344;22072790;22174690;22190735;22195017;22424782;22855488;22916032;23035226;23085078;23217742;23225889;23234702;23269699;23439679;23482395;23746841;2388630;24424021;24524803;24550520;24715725;25132172;25242263;25275262;25432065;25469497;25525153;25969445;26154972;26237581;27526673;27846572;27862975;28065601;28132843;28685749;29413899;29493099;29557506;30293783;30804176;31020640;31844290;31904996;32099016;32157095;32331925;32350084;32357974;32387766;32488085;32502341;32579943;32680882;32908316;32983136;32995776;32995777;33080218;33141586;33188728;33268501;33479166;33670450;34315815;34373319;34509645;34624207;35561310;36302773;36580660;36610391;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202;9864030", "class_list": "", "function": "Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; DLG1, XIST, DDX3Y and RPS4Y1 genes can classify samples into different group clearly, and they are regarded as high confidence distinct gene biomarkers of Parkinson disease., [RefSeq, PubMed]; Development of a Specific Monoclonal Antibody to Detect Male Cells Expressing the RPS4Y1 Protein. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of Potential Biomarkers for Intervertebral Disc Degeneration Using the Genome-Wide Expression Analysis., [RefSeq, PubMed]; Identification of Ribosomal Protein S4, Y-Linked 1 as a cyclosporin A plus corticosteroid resistance 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": 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": "A8K9V4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 22.7, "record_id": "P22090-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SQ7-1", "uniprot_id": [ { "id": "SDCG8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SQ7", "type": "external" } ], "mass": 82682.0, "length": 713, "protein_name": "Serologically defined colon cancer antigen 8", "gene_name": "SDCCAG8", "organism": "Human", "refseq_name": "serologically defined colon cancer antigen 8 isoform 1", "refseq_ac": [ { "id": "NP_006633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006633", "type": "external" } ], "gene_names_uniprotkb": "SDCCAG8; CCCAP; HSPC085; NPHP10", "gene_names_refseq": "BBS16; CCCAP SLSN7; CCCAP; HSPC085; NPHP10; NY-CO-8; SDCCAG8; SLSN7; hCCCAP", "protein_names_uniprotkb": "Serologically defined colon cancer antigen 8; Antigen NY-CO-8; Centrosomal colon cancer autoantigen protein; hCCCAP", "protein_names_refseq": "Bardet-Biedl syndrome 16; antigen NY-CO-8; centrosomal colon cancer autoantigen protein; nephrocystin 10; serologically defined colon cancer antigen 8 isoform 1; serologically defined colon cancer antigen 8", "tax_id": 9606, "disease": "Senior-Loken syndrome (Disease Ontology:DOID:0050576); Senior-Loken syndrome 7 (Disease Ontology:DOID:0061281); Bardet-Biedl syndrome 16 (Disease Ontology:DOID:0110138); nephronophthisis (Disease Ontology:DOID:12712)", "pathway": " (hsa:10806); (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": 115, "publication_id_list": "11076968;11237011;11956313;12207013;12221128;12364337;12559564;12852856;13678582;14580337;15498487;15705883;16357211;16462731;16890155;17574030;17646400;17719545;18037885;18378770;18477460;18521620;18566290;18615013;18694559;18801063;19004860;19081074;19626040;19940019;20230748;20308558;20399632;20558667;20835237;21273506;21347367;21422230;21548880;21565611;21620453;21725307;21792235;22094468;22179047;22365832;22433857;22626039;22641346;22653444;22940612;23141531;23141541;23186163;23253480;23348840;23400999;23530209;23747070;23769972;23789104;23921553;24053599;24089205;24231678;24469809;24982133;25047611;25313408;25532896;25880248;26992070;27224062;27600516;27893789;27920218;28446606;28832583;28834231;29242379;29493099;30429286;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32926352;32938616;32983136;33298915;33402344;33592498;33633747;33691108;33912179;33968037;33981976;34375487;34509645;34932366;35051231;35131266;35318648;35494241;35580925;7769006;7790358;8838651;9610721", "class_list": "", "function": "A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome., [RefSeq, PubMed]; Genetic variants of SDCCAG8 and MAGI2 in mitosis-related pathway genes are independent predictors of cutaneous melanoma-specific survival., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Also plays an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for pathway activation. Mechanistically, interacts with and mediates RABEP2 centrosomal localization which is critical for ciliogenesis (PubMed:27224062)., [UniProtKB, UniProtKB, PubMed]; The carboxyl-terminal region of SDCCAG8 comprises a functional module essential for cilia formation as well as organ development and homeostasis., [RefSeq, PubMed]; This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "O60527;Q3ZCR6;Q8N5F2;Q9P0F1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097733 photoreceptor cell cilium;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005911 cell-cell junction;GO:0005814 centriole", "go_biological_process": "GO:0001764 neuron migration;GO:0030030 cell projection organization;GO:0007098 centrosome cycle;GO:0030010 establishment of cell polarity;GO:1902017 regulation of cilium assembly", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q86SQ7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2E9-1", "uniprot_id": [ { "id": "RRBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2E9", "type": "external" } ], "mass": 152456.0, "length": 1410, "protein_name": "Ribosome-binding protein 1", "gene_name": "RRBP1", "organism": "Human", "refseq_name": "ribosome-binding protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001036041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036041", "type": "external" } ], "gene_names_uniprotkb": "RRBP1; KIAA1398", "gene_names_refseq": "ES/130; ES130; RRBP1; RRp; hES; p180", "protein_names_uniprotkb": "Ribosome-binding protein 1; 180 kDa ribosome receptor homolog; ES/130-related protein; RRp; Ribosome receptor protein", "protein_names_refseq": "180 kDa ribosome receptor homolog; ES/130-related protein; endoplasmic reticulum ribosome-binding protein 1; ribosomal receptor-binding protein 1; ribosome binding protein 1 homolog 180kDa (dog); ribosome receptor protein; ribosome-binding protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:6238); (R-HSA-9725370); (R-HSA-9918487)", "pathway_count": 3, "publication_count": 199, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10216106;10556217;10702393;10706082;10706887;10934142;11110708;11237011;11280786;11310834;11504915;11751994;11850821;11943732;11988758;12112524;12185581;12424201;12750159;12800156;12920229;12934099;14962911;15169778;15184079;15208656;15374880;15588951;15895073;16153455;16161041;16170336;16825495;16871283;16939498;16964243;17081983;17086210;17353907;17416736;17483340;17625570;17924679;18097461;18452557;18593892;18594010;18669648;18691976;18701132;18724359;18923523;18923524;18923525;19456272;19459784;20068231;20454865;21134980;21164297;21213368;21406692;21415216;21494621;21596819;21656749;21838707;21847362;22249260;22327622;22347464;22544926;22570254;22658521;22898188;23104988;23139213;23186163;23201355;23239810;23481700;23661334;23957430;24060861;24275569;24445538;24475247;24496003;24518094;24613930;24736082;25114211;25342631;25393796;25421750;25645385;25813380;25813404;25921060;26001147;26062823;26301689;26735137;26768311;26853435;27245569;27452731;27573755;27600516;27874193;27920218;28228285;28404650;28446606;28510447;28659337;28741662;28832583;28834231;29117567;29242379;29314611;29331515;29393594;29455642;29493099;29508533;29557506;29632711;29786170;29789417;29873274;30131584;30315122;30379171;30397120;30429286;30444036;30524438;30692217;31217245;31366041;31611695;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32890404;32897882;32938616;32983136;33043033;33214551;33298915;33537174;33592498;33633747;33691108;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34229054;34405274;34445467;34509645;34696522;34725712;35051231;35083852;35251023;35318648;35494241;35580925;35585045;36010968;36215666;36241641;36284347;36803854;37217939;37938771;38177122;38253038;38665916;39395807;40596516;7824924;8633037;9628588;9819383", "class_list": "", "function": "Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane., [UniProtKB, UniProtKB, UniProtKB]; ER ribosomal-binding protein 1 regulates blood pressure and potassium homeostasis by modulating intracellular renin trafficking. Publication Status: Online-Only, [RefSeq, PubMed]; Hypomethylated RRBP1 Potentiates Tumor Malignancy and Chemoresistance in Upper Tract Urothelial Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Results identify the ribosome receptor, p180, as a binding partner of the kinesin heavy chain isoform KIF5B., [RefSeq, PubMed]; This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [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": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A0MRV0;A2A2S6;A6NCN6;O75300;O75301;Q5W165;Q96SB2;Q9BWP1;Q9H476", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005840 ribosome", "go_biological_process": "GO:0015031 protein transport;GO:0006412 translation;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "Q9P2E9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30531-1", "uniprot_id": [ { "id": "SC6A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30531", "type": "external" } ], "mass": 67074.0, "length": 599, "protein_name": "Sodium- and chloride-dependent GABA transporter 1", "gene_name": "SLC6A1", "organism": "Human", "refseq_name": "sodium- and chloride-dependent GABA transporter 1 isoform a", "refseq_ac": [ { "id": "NP_001335179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335179", "type": "external" } ], "gene_names_uniprotkb": "SLC6A1; GABATR; GABT1; GAT1", "gene_names_refseq": "GABATHG; GABATR; GAT1; MAE; SLC6A1; hGAT-1", "protein_names_uniprotkb": "Sodium- and chloride-dependent GABA transporter 1; GAT-1; Solute carrier family 6 member 1", "protein_names_refseq": "sodium- and chloride-dependent GABA transporter 1 isoform a; sodium- and chloride-dependent GABA transporter 1; solute carrier family 6 (neurotransmitter transporter), member 1; solute carrier family 6 (neurotransmitter transporter, GABA), member 1", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); myoclonic-atonic epilepsy (Disease Ontology:DOID:0060475); epilepsy (Disease Ontology:DOID:1826); brain ischemia (Disease Ontology:DOID:2316); temporal lobe epilepsy (Disease Ontology:DOID:3328); cerebral infarction (Disease Ontology:DOID:3526); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:6529); (R-HSA-442660); (R-HSA-888593)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10446133;10684912;10889531;10973981;11237011;11555659;11698620;11897791;12115694;12151341;15286787;15286788;15592994;15632147;16226721;16751771;17502375;17726476;18599538;20068230;2008212;23481700;2387399;25865495;29242379;29557506;30132828;31154438;31844290;32488085;32938616;33912179;33981976;35051231;35580925;37501613;37540943;37647852;38253038;38663152;39344240;7651355;7874447;8125921;8183239;8632143;9845349", "class_list": "", "function": "Abnormal Weakening of DNA Methylation around the SLC6A1 Gene Promoter in Temporal Lobe Epilepsy., [RefSeq, PubMed]; Assessing the impact of the de novo SLC6A1 mutation in schizophrenia through a comprehensive case study., [RefSeq, PubMed]; Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder., [RefSeq, PubMed]; Mediates transport of gamma-aminobutyric acid (GABA) together with sodium and chloride and is responsible for the reuptake of GABA from the synapse (PubMed:30132828). The translocation of GABA, however, may also occur in the reverse direction leading to the release of GABA (By similarity). The direction and magnitude of GABA transport is a consequence of the prevailing thermodynamic conditions, determined by membrane potential and the intracellular and extracellular concentrations of Na(+), Cl(-) and GABA (By similarity). Can also mediate sodium- and chloride-dependent transport of hypotaurine but to a much lower extent as compared to GABA (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Patient-derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice., [RefSeq, PubMed]; SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis., [RefSeq, PubMed]; The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q8N4K8", "ec_number_list": [], "go_molecular_function": "GO:0005332 gamma-aminobutyric acid:sodium:chloride symporter activity;GO:0046872 metal ion binding;GO:0015378 sodium:chloride symporter activity;GO:0015185 gamma-aminobutyric acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0007613 memory;GO:0008306 associative learning;GO:0050808 synapse organization;GO:0007268 chemical synaptic transmission;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P30531-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2R5-1", "uniprot_id": [ { "id": "RT17_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2R5", "type": "external" } ], "mass": 14502.0, "length": 130, "protein_name": "Small ribosomal subunit protein uS17m", "gene_name": "MRPS17", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS17m", "refseq_ac": [ { "id": "NP_057053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057053", "type": "external" } ], "gene_names_uniprotkb": "MRPS17; HSPC011; RPMS17", "gene_names_refseq": "HSPC011; MRP-S17; MRPS17; RPMS17; S17mt; uS17m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS17m; 28S ribosomal protein S17, mitochondrial; MRP-S17; S17mt", "protein_names_refseq": "28S ribosomal protein S17, mitochondrial; mitochondrial small ribosomal subunit protein uS17m; small ribosomal subunit protein uS17m", "tax_id": 9606, "disease": "", "pathway": " (hsa:51373); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 82, "publication_id_list": "11237011;11279123;11402041;15358359;17081983;17803939;18429816;18782833;19413330;19524667;19716793;20068231;20186120;20877624;21907147;22172991;2250005;22869377;24714562;25233460;25576301;25645385;25838379;25880248;26375851;26728094;26768311;26992070;27029019;27600516;27846572;27862975;28218747;28228285;28832583;28834231;28892042;28904123;29242379;29331515;29437277;29493099;29508533;29557506;29632711;30192525;30315122;30429286;30484775;30779550;31154438;31222486;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33243891;33298915;33592498;33691108;33878294;33968037;33981976;34171305;34357683;34509645;34932366;35051231;35318648;35580925;36215666;36241641;36302763;36596788;37141370;9653160", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]., [RefSeq]; 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": 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": "Q86X15", "ec_number_list": [], "go_molecular_function": "GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9Y2R5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXU6-1", "uniprot_id": [ { "id": "S35F2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXU6", "type": "external" } ], "mass": 41212.0, "length": 374, "protein_name": "Queuine/queuosine transporter SLC35F2", "gene_name": "SLC35F2", "organism": "Human", "refseq_name": "queuine/queuosine transporter SLC35F2", "refseq_ac": [ { "id": "NP_059985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059985", "type": "external" } ], "gene_names_uniprotkb": "SLC35F2", "gene_names_refseq": "HSNOV1; SLC35F2", "protein_names_uniprotkb": "Queuine/queuosine transporter SLC35F2; Solute carrier family 35 member F2", "protein_names_refseq": "lung squamous cell cancer related protein LSCC-3; queuine/queuosine transporter SLC35F2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54733)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;18491316;18691976;19690332;20068231;21874247;23186163;23481700;24397554;25418920;25502872;25880248;25892735;26811146;26929215;26992070;28218747;28228285;28467828;28904123;29242379;29274137;29314611;29437277;29493099;29769354;29786170;30315122;30626607;30779550;31530632;31611695;31844290;32350084;32357974;32897882;33298915;33418944;33717175;33968037;33981976;34357683;34815782;35051231;35154160;36241641;37740007;37801987;40526720;40972734;9119394", "class_list": "", "function": "BetaTrCP1 promotes SLC35F2 protein ubiquitination and inhibits cancer progression in HeLa cells., [RefSeq, PubMed]; High affinity plasma membrane importer of the nucleobase queuine (q) and its nucleoside queuosine (Q), two bacterially derived micronutrients acquired from the gut microbiome and diet. Following cellular uptake, queuosine is incorporated at the wobble base (position 34) of tRNAs that decode histidine, tyrosine, aspartate, and asparagine codons, which is important for efficient translation. Also involved in choline transport, although the underlying transport mechanism remains to be elucidated (PubMed:40972734)., [UniProtKB, PubMed, PubMed]; SLC35F2 was highly expressed in NSCLC tissues and the levels of expression, in particular the levels of the SLC35F2 transcript, were associated with NSCLC pathological staging., [RefSeq, PubMed]; SLC35F2, a Transporter Sporadically Mutated in the Untranslated Region, Promotes Growth, Migration, and Invasion of Bladder Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; SLC35F2-SYVN1-TRIM59 axis critically regulates ferroptosis of pancreatic cancer cells by inhibiting endogenous p53., [RefSeq, PubMed]; Study showed that SLC35F2 was prominently upregulated in papillary thyroid carcinoma (PTC) tissues at both protein and mRNA expression level and significantly associated with lymph node metastasis. These findings suggest that SLC35F2 exerts its oncogenic effect on PTC progression through the mitogen-activated protein kinase pathway, with dependence on activation of TGFBR-1 and apoptosis signal-regulating kinase 1., [RefSeq, PubMed]; USP32 confers cancer cell resistance to YM155 via promoting ER-associated degradation of solute carrier protein SLC35F2. 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": 4, "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": "Q14963;Q5JPA8;Q6ZRQ3;Q9H947", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015220 choline transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0015871 choline transport;GO:0160254 tRNA queuosine(34) biosynthetic process from salvaged queuosine or its precursors;GO:0160255 tRNA queuosine(34) biosynthetic process from salvaged queuine", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q8IXU6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61218-1", "uniprot_id": [ { "id": "RPAB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P61218", "type": "external" } ], "mass": 14478.0, "length": 127, "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC2", "gene_name": "POLR2F", "organism": "Human", "refseq_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform 1", "refseq_ac": [ { "id": "NP_068809", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068809", "type": "external" } ], "gene_names_uniprotkb": "POLR2F; POLRF", "gene_names_refseq": "HRBP14.4; POLR2F; POLRF; RPABC14.4; RPABC2; RPB14.4; RPB6; RPC15", "protein_names_uniprotkb": "DNA-directed RNA polymerases I, II, and III subunit RPABC2; DNA-directed RNA polymerase II subunit F; DNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptide; RNA polymerases I, II, and III subunit ABC2; RPABC14.4; RPB14.4; RPB6 homolog; RPC15", "protein_names_refseq": "DNA-directed RNA polymerase II subunit F; DNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptide; DNA-directed RNA polymerases I, II, and III subunit RPABC2 isoform 1; DNA-directed RNA polymerases I, II, and III subunit RPABC2; RNA Polymerase II subunit 14.4 kD; RNA polymerases I, II, and III subunit ABC2; polymerase (RNA) II (DNA directed) polypeptide F; polymerase (RNA) II subunit F", "tax_id": 9606, "disease": "", "pathway": " (hsa:5435); (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": 654, "publication_id_list": 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2;7660122;7660129;7660130;7700386;7715707;7769657;7801123;7803819;7831296;7853496;7891697;7906964;7908827;7935485;7937828;7995525;8035818;8078911;8156590;8195246;8197458;8253082;8308883;8330735;8339931;8352591;8370526;8407894;8419924;8423814;8465201;8490964;8566756;8608946;8628262;8668525;8674428;8759021;8786150;8835860;8876171;8876179;8946909;9003788;9009278;9016565;9063748;9153304;9171375;9188510;9201922;9214382;9218805;9234698;9242493;9256425;9271388;9272954;9312031;9326587;9338790;9353262;9388265;9405375;9407024;9409616;9418884;9450929;9482740;9489704;9512519;9512541;9524131;9539711;9582279;9611253;9659921;9660958;9671459;9671485;9699634;9701291;9705341;9716411;9731529;9731700;9755184;9765293;9790902;9832505;9852112;9857195;9858549;9875289", "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 small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2F/RPABC2 is part of the clamp element and together with parts of POLR2A/RPB1 and POLR2B/RPB2 forms a pocket to which the POLR2D/RPB4-POLR2G/RPB7 subcomplex binds., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. 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": 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": "P41584;Q6IAY3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center;GO:0005665 RNA polymerase II, core 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": 65.5, "record_id": "P61218-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37088-1", "uniprot_id": [ { "id": "SCNNA_HUMAN", "url": "https://www.uniprot.org/uniprot/P37088", "type": "external" } ], "mass": 75704.0, "length": 669, "protein_name": "Epithelial sodium channel subunit alpha", "gene_name": "SCNN1A", "organism": "Human", "refseq_name": "epithelial sodium channel subunit alpha isoform 1", "refseq_ac": [ { "id": "NP_001029", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029", "type": "external" } ], "gene_names_uniprotkb": "SCNN1A; SCNN1", "gene_names_refseq": "BESC2; ENaCalpha; ENaCa; LIDLS3; PHA1B1; SCNEA; SCNN1A; SCNN1", "protein_names_uniprotkb": "Epithelial sodium channel subunit alpha; Alpha-ENaC; Alpha-NaCH; Amiloride-sensitive sodium channel subunit alpha; ENaC subunit alpha; ENaCA; Epithelial Na(+) channel subunit alpha; Nonvoltage-gated sodium channel 1 subunit alpha; SCNEA; Sodium channel epithelial 1 subunit alpha", "protein_names_refseq": "ENaC subunit alpha; alpha ENaC-2; alpha-ENaC; alpha-NaCH; amiloride-sensitive epithelial sodium channel alpha subunit; amiloride-sensitive sodium channel subunit alpha 2; epithelial Na(+) channel subunit alpha; epithelial sodium channel subunit alpha isoform 1; epithelial sodium channel subunit alpha; nasal epithelial sodium channel alpha subunit; nonvoltage-gated sodium channel 1 subunit alpha; sodium channel epithelial 1 alpha subunit; sodium channel, non voltage gated 1 alpha subunit; sodium channel, non-voltage-gated 1 alpha; sodium channel, nonvoltage-gated 1 alpha", "tax_id": 9606, "disease": "Liddle syndrome (Disease Ontology:DOID:0050477); stroke (Disease Ontology:DOID:0051061); autosomal recessive pseudohypoaldosteronism type 1 (Disease Ontology:DOID:0060854); bronchiectasis 2 (Disease Ontology:DOID:0080527); nephrotic syndrome (Disease Ontology:DOID:1184); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); neurodegenerative disease (Disease Ontology:DOID:1289); cystic fibrosis (Disease Ontology:DOID:1485); ischemia (Disease Ontology:DOID:326); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); pseudohypoaldosteronism (Disease Ontology:DOID:4479); neuroblastoma (Disease Ontology:DOID:769); Liddle syndrome 3 (MONDO:MONDO:0029132)", "pathway": " (hsa:6337); (R-HSA-2672351); (R-HSA-9730628)", "pathway_count": 3, "publication_count": 156, "publication_id_list": "10.1101/2023.09.13.557529;10404817;10447117;10523338;10564087;10586178;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11244092;11266509;11588175;11687798;11696533;11734858;11842292;11904445;11956057;12107247;12167593;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15734793;15853823;15916532;15919655;16207733;16219661;16813530;16849430;16850186;17381423;17448995;17502380;17699613;17766193;17881003;18000046;18063579;18174164;18310267;18400985;18449189;18508966;18634878;18662336;18724360;19153159;19307298;19380724;19387438;1939532;19462466;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22207244;22493497;22773952;22946059;2298749;23112050;2321095;23616951;23665454;24124190;2536303;25576301;26359375;26562072;26772908;27862975;28071645;28130590;28154142;28710092;28790369;29242379;29331515;29393594;29557506;29786170;29789417;30251954;30484775;30779550;31154438;31844290;31848261;32161166;32488085;32729833;32938616;33537174;33912179;33968037;33981976;34087483;34171305;34185709;35051231;35289036;35580925;35714697;36010968;36193739;36241641;36284347;37134141;37280474;37843257;7588753;7665160;7795595;8023962;8041726;8112288;8278374;8383669;8533761;8544406;8626462;8809036;9037075;9169421;9395096;9571199;9575806;9612219;9654208;9662395;9700209;9719863;9744806;9792722", "class_list": "", "function": "A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene., [RefSeq, PubMed]; A more than three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patient group (30% vs. 9% in controls), indicating an involvement of ENaC in some patients by a polygenetic mechanism., [RefSeq, PubMed]; Activation of SGK1/ENaC Signaling Pathway Improves the Level of Decidualization in Unexplained Recurrent Spontaneous Abortion., [RefSeq, PubMed]; Association between low-sodium salt intervention and long-term blood pressure changes is modified by ENaC genetic variation: a gene-diet interaction analysis in a randomized controlled trial. Erratum:[Food Funct. 2024 Jan 22;15(2):1050. doi: 10.1039/d3fo90103c. PMID: 38126716] Publication Status: Online-Only, [RefSeq, PubMed]; Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]., [RefSeq]; Not functional., [UniProtKB, PubMed]; Rare Variants in Genes Encoding Subunits of the Epithelial Na[+] Channel Are Associated With Blood Pressure and Kidney Function., [RefSeq, PubMed]; Sodium channel 1 subunit alpha SCNN1A exerts oncogenic function in pancreatic cancer via accelerating cellular growth and metastasis., [RefSeq, PubMed]; This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis. ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically. It plays a key role in maintaining sodium homeostasis through electrogenic sodium reabsorption in the kidneys. Additionally, ENaC is essential for airway surface liquid homeostasis, which is crucial for proper mucus clearance., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 2, "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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 13, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A5X2U9;B4E2Q5;C5HTZ0;O43271;Q6GSQ6;Q9UM64", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0050699 WW domain binding;GO:0015280 ligand-gated sodium channel activity;GO:0005272 sodium channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0031514 motile cilium;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008217 regulation of blood pressure;GO:1904117 cellular response to vasopressin;GO:0006883 intracellular sodium ion homeostasis;GO:0035725 sodium ion transmembrane transport;GO:1904045 cellular response to aldosterone", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "P37088-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31639-1", "uniprot_id": [ { "id": "SC5A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P31639", "type": "external" } ], "mass": 72897.0, "length": 672, "protein_name": "Sodium/glucose cotransporter 2", "gene_name": "SLC5A2", "organism": "Human", "refseq_name": "sodium/glucose cotransporter 2", "refseq_ac": [ { "id": "NP_003032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003032", "type": "external" } ], "gene_names_uniprotkb": "SLC5A2; SGLT2", "gene_names_refseq": "SGLT2; SLC5A2", "protein_names_uniprotkb": "Sodium/glucose cotransporter 2; Low affinity sodium-glucose cotransporter; Na(+)/glucose cotransporter 2; Solute carrier family 5 member 2", "protein_names_refseq": "Na(+)/glucose cotransporter 2; low affinity sodium-glucose cotransporter; sodium/glucose cotransporter 2; solute carrier family 5 (sodium/glucose cotransporter), member 2; solute carrier family 5 (sodium/glucose transporter), member 2", "tax_id": 9606, "disease": "familial renal glucosuria (Disease Ontology:DOID:0070613); hypertension (Disease Ontology:DOID:10763); renal glycosuria (Disease Ontology:DOID:9432)", "pathway": " (hsa:6524); (R-HSA-189200); (R-HSA-5658208)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10821868;10860667;10970791;10987651;11133510;11237011;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12436245;12504846;12590146;12885248;1415574;14569097;14614622;14739288;14997204;15033637;15607332;15902306;16154905;16550171;17050778;1756912;17635959;18063724;18327257;1918382;20616166;20980548;21107422;21165652;21940664;22212718;22521588;25418920;26376857;2656669;26650681;26929215;28592437;29557506;30459171;32387766;34171305;34880493;35051231;37217492;38057552;38171209;38247224;38488029;38523292;38747277;8457197;9354798;9751501", "class_list": "glycogene", "function": "Co-localization of the sodium-glucose co-transporter-2 channel (SGLT-2) with endothelin ETA and ETB receptors in human cardiorenal tissue., [RefSeq, PubMed]; Electrogenic Na(+)-coupled sugar symporter that actively transports D-glucose at the plasma membrane, with a Na(+) to sugar coupling ratio of 1:1 (PubMed:20980548, PubMed:28592437, PubMed:34880493, PubMed:37217492, PubMed:38057552). Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump (PubMed:20980548, PubMed:28592437, PubMed:34880493). Unlike SLC5A1/SGLT1, requires the auxiliary protein PDZK1IP1/MAP17 for full transporter activity (PubMed:37217492). Has a primary role in D-glucose reabsorption from glomerular filtrate across the brush border of the early proximal tubules of the kidney (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Inhibition of Sodium-Glucose Cotransporter-2 during Serum Deprivation Increases Hepatic Gluconeogenesis via the AMPK/AKT/FOXO Signaling Pathway., [RefSeq, PubMed]; Myocardial sodium-glucose cotransporter 2 expression and cardiac remodelling in patients with severe aortic stenosis: The BIO-AS study., [RefSeq, PubMed]; Role and molecular mechanisms of SGLT2 inhibitors in pathological cardiac remodeling (Review). Review article, [RefSeq, PubMed]; SGLT2 inhibition and three urological cancers: Up-to-date results., [RefSeq, PubMed]; SGLT2 plays an important role in renal tubular glucose reabsorption., [RefSeq, PubMed]; This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 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": 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": 7, "reported_glycation": 0, "reported_snv": 1044, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2RRD2", "ec_number_list": [], "go_molecular_function": "GO:0005362 low-affinity D-glucose:sodium symporter activity;GO:0005412 D-glucose:sodium symporter activity;GO:0046872 metal ion binding;GO:0055056 D-glucose transmembrane transporter activity;GO:0015151 alpha-glucoside transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0035623 renal D-glucose absorption;GO:0005975 carbohydrate metabolic process;GO:0008645 hexose transmembrane transport;GO:0098719 sodium ion import across plasma membrane;GO:0000017 alpha-glucoside transport", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P31639-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6FHJ7-1", "uniprot_id": [ { "id": "SFRP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6FHJ7", "type": "external" } ], "mass": 39827.0, "length": 346, "protein_name": "Secreted frizzled-related protein 4", "gene_name": "SFRP4", "organism": "Human", "refseq_name": "secreted frizzled-related protein 4 precursor", "refseq_ac": [ { "id": "NP_003005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003005", "type": "external" } ], "gene_names_uniprotkb": "SFRP4; FRPHE", "gene_names_refseq": "FRP-4; FRPHE; FRZB-2; PYL; SFRP4; sFRP-4", "protein_names_uniprotkb": "Secreted frizzled-related protein 4; Frizzled protein, human endometrium; FrpHE; sFRP-4", "protein_names_refseq": "frizzled protein, human endometrium; secreted frizzled-related protein 4 precursor; secreted frizzled-related protein 4", "tax_id": 9606, "disease": "metaphyseal dysplasia (Disease Ontology:DOID:0080019)", "pathway": " (hsa:6424)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10211996;10728394;11237011;12952927;19480240;20403915;27355534;29741879;30429286;32488085;35494241;36084952;36215666;36719100;37054536;37074911;38834984;39425025", "class_list": "", "function": "Downregulation of senescence-associated secretory phenotype by knockdown of secreted frizzled-related protein 4 contributes to the prevention of skin aging., [RefSeq, PubMed]; Dupuytren's contracture-associated SNPs increase SFRP4 expression in non-immune cells including fibroblasts to enhance inflammation development., [RefSeq, PubMed]; Exploring the predictive values of SERP4 and FRZB in dilated cardiomyopathy based on an integrated analysis. Publication Status: Online-Only, [RefSeq, PubMed]; PBX1-promoted SFRP4 transcription inhibits cell proliferation and epithelial-mesenchymal transition in endometrial carcinoma., [RefSeq, PubMed]; Role of secreted frizzled-related protein 4 in prediabetes and type 2 diabetes: a cross sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; Secreted frizzled-related protein 4 (SFRP4) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. The expression of SFRP4 in ventricular myocardium correlates with apoptosis related gene expression. [provided by RefSeq, Jul 2008]., [RefSeq]; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types (By similarity). SFRP4 plays a role in bone morphogenesis. May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake (PubMed:12952927)., [UniProtKB, 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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 8768, "biomarker_type": "", "glycan_count": 31, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DYC1;O14877;Q05BG7;Q1ZYW2;Q4G124;Q6FHM0;Q6PD64", "ec_number_list": [], "go_molecular_function": "GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0009986 cell surface;GO:0005576 extracellular region", "go_biological_process": "GO:1902174 positive regulation of keratinocyte apoptotic process;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q6FHJ7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0A6-1", "uniprot_id": [ { "id": "SETD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0A6", "type": "external" } ], "mass": 157515.0, "length": 1442, "protein_name": "Histone-lysine N-methyltransferase SETD5", "gene_name": "SETD5", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SETD5 isoform 1", "refseq_ac": [ { "id": "NP_001073986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073986", "type": "external" } ], "gene_names_uniprotkb": "SETD5; KIAA1757", "gene_names_refseq": "MRD23; SETD5A; SETD5", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SETD5; 2.1.1.359; 2.1.1.367; SET domain-containing protein 5", "protein_names_refseq": "SET domain-containing protein 5; histone-lysine N-methyltransferase SETD5 isoform 1; histone-lysine N-methyltransferase SETD5", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 23 (Disease Ontology:DOID:0070053); prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748)", "pathway": " (hsa:55209)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18452278;18669648;19413330;19690332;20068231;22939622;23186163;23481700;24562769;24680889;24715725;25138099;25418920;25645385;25880248;26154972;26375851;26992070;27375234;27846572;27920218;28228285;28832583;28855257;28881385;28904123;28905509;29242379;29393594;29508533;29557506;29632711;29786170;29789417;30315122;30410026;30524438;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33129761;33141586;33298915;33392160;33592498;33822517;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35063407;35318648;35580925;35705054;36875494;37264456;37938771;37963940", "class_list": "", "function": "Analysis provides sufficient evidence that rare de novo LoF mutations in SETD5 are a relatively frequent (0.7%) cause of intellectual disability, [RefSeq, PubMed]; Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion., [UniProtKB, UniProtKB]; MiR126-5p is a functional, endothelial-enriched microRNA that participates in the control of leucocyte trafficking by regulating the expression of ALCAM and SetD5., [RefSeq, PubMed]; SET Domain-Containing Protein 5 Enhances the Cell Stemness of Non-Small Cell Lung Cancer via the PI3K/Akt/mTOR Pathway., [RefSeq, PubMed]; SETD5 Regulates Glycolysis in Breast Cancer Stem-Like Cells and Fuels Tumor Growth., [RefSeq, PubMed]; SETD5 haploinsufficiency affects mitochondrial compartment in neural cells. Publication Status: Online-Only, [RefSeq, PubMed]; SETD5 sequence variants contribute substantially to the microdeletion 3p25.3 phenotype. SETD5 variants as a relatively frequent cause of intellectual disability., [RefSeq, PubMed]; Structure, activity and function of the lysine methyltransferase SETD5. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Su(var)3-9, Enhancer of Zeste, and Trithorax Domain-Containing 5 Facilitates Tumor Growth and Pulmonary Metastasis through Up-Regulation of AKT1 Signaling in Breast Cancer., [RefSeq, PubMed]; This function of this gene has yet to be determined but based on sequence similarity to other SET domain proteins it may function as a histone methyltransferase. Mutations in this gene have been associated with an autosomal dominant form of intellectual disability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2017]., [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": 25, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 25, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 25, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 85, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 29, "binding_glycan_count": 0, "secondary_ac_list": "Q6AI17;Q8WUB6;Q9H3X4;Q9H6V7;Q9H7S3;Q9NVI9", "ec_number_list": [ { "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:0003714 transcription corepressor activity;GO:0046975 histone H3K36 methyltransferase activity;GO:0046974 histone H3K9 methyltransferase activity;GO:0140948 histone H3K9 monomethyltransferase activity;GO:0140955 histone H3K36 trimethyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0000791 euchromatin;GO:0034967 Set3 complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0050890 cognition;GO:0006355 regulation of DNA-templated transcription;GO:0051963 regulation of synapse assembly;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q9C0A6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L4I2-1", "uniprot_id": [ { "id": "RSRC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L4I2", "type": "external" } ], "mass": 50560.0, "length": 434, "protein_name": "Arginine/serine-rich coiled-coil protein 2", "gene_name": "RSRC2", "organism": "Human", "refseq_name": "arginine/serine-rich coiled-coil protein 2", "refseq_ac": [ { "id": "NP_075388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075388", "type": "external" } ], "gene_names_uniprotkb": "RSRC2", "gene_names_refseq": "RSRC2", "protein_names_uniprotkb": "Arginine/serine-rich coiled-coil protein 2", "protein_names_refseq": "arginine/serine-rich coiled-coil 2; arginine/serine-rich coiled-coil protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:65117)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;16964243;17081983;17203224;18212344;18452278;18669648;18707149;18767875;19413330;19415658;19651622;19664994;19664995;20068231;21406692;23186163;24714562;25114211;25576301;26992070;28416606;28832583;28904123;29242379;29557506;30429286;30484775;30779550;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33592498;33717175;33912179;33936100;33968037;34019948;34087483;34171305;35051231;35580925;36010968;37217939;37938771", "class_list": "", "function": "Our findings suggest that paclitaxel targets the TRA2A-RSRC2 splicing pathway, and deregulated TRA2A and RSRC2 expression may confer paclitaxel resistance. In addition, our study demonstrates that expression of TRA2A in conjunction with RSRC2 may provide valuable molecular biomarker evidence for triple-negative breast cancer (TNBC)clinical treatment decisions and patient outcome, [RefSeq, PubMed]; RSRC2 might play a role in cell proliferation and progression of esophageal 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": 14, "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": "Q6N040;Q6NW16;Q9H864", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q7L4I2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96BY9-1", "uniprot_id": [ { "id": "SARAF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96BY9", "type": "external" } ], "mass": 36975.0, "length": 339, "protein_name": "Store-operated calcium entry-associated regulatory factor", "gene_name": "SARAF", "organism": "Human", "refseq_name": "store-operated calcium entry-associated regulatory factor isoform 2", "refseq_ac": [ { "id": "NP_001271168", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271168", "type": "external" } ], "gene_names_uniprotkb": "SARAF; HSPC035; NPD003; PRO4499; PSEC0019; TMEM66; XTP3", "gene_names_refseq": "FOAP-7; HSPC035; SARAF; TMEM66; XTP3", "protein_names_uniprotkb": "Store-operated calcium entry-associated regulatory factor; HBV X-transactivated gene 3 protein; HBV XAg-transactivated protein 3; Protein FOAP-7; SARAF; SOCE-associated regulatory factor; Transmembrane protein 66", "protein_names_refseq": "HBV X-transactivated gene 3 protein; HBV XAg-transactivated protein 3; SOCE-associated regulatory factor; store-operated calcium entry-associated regulatory factor isoform 2; testicular secretory protein Li 59; transmembrane protein 66", "tax_id": 9606, "disease": "", "pathway": " (hsa:51669)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "11237011;12975309;15340161;16303743;17074750;19413330;20112406;22464749;22869377;23049731;24029068;24715725;25469497;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28446606;28832583;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30481768;30484775;31844290;32157095;32350084;32357974;32387766;32897882;32938616;32983136;33123756;33592498;33691108;33717175;33981976;34087483;34171305;34561969;34705029;34932366;35051231;35251023;35318648;35580925;36215666;36241641;36284347;37938771;38073055;38802035", "class_list": "", "function": "Bidirectional regulation of calcium release-activated calcium (CRAC) channel by SARAF., [RefSeq, PubMed]; MiR-30a-5p isoform -1|1 promotes the progression of gastric cancer by inhibiting TMEM66 and reducing intratumoral cytotoxic T cells., [RefSeq, PubMed]; Negative regulator of store-operated Ca(2+) entry (SOCE) involved in protecting cells from Ca(2+) overfilling. In response to cytosolic Ca(2+) elevation after endoplasmic reticulum Ca(2+) refilling, promotes a slow inactivation of STIM (STIM1 or STIM2)-dependent SOCE activity: possibly act by facilitating the deoligomerization of STIM to efficiently turn off ORAI when the endoplasmic reticulum lumen is filled with the appropriate Ca(2+) levels, and thus preventing the overload of the cell with excessive Ca(2+) ions., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Reduced Ca[2+] mobilization in neonatal human platelets involves SARAF and pannexin-1., [RefSeq, PubMed]; Store-operated Ca2+ entry is remodelled and controls in vitro angiogenesis in endothelial progenitor cells isolated from tumoral patients., [RefSeq, PubMed]; Study shows that SARAF is an endoplasmic reticulum resident protein, which responds to cytosolic Ca2+ elevation after ER Ca2+ refilling by promoting a slow inactivation process of STIM2-dependent basal SOCE activity, as well as STIM1-mediated SOCE activity., [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": 1, "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": "B3KQQ4;B7Z9J1;D3DSU7;H9MHJ8;H9MHJ9;Q53HE8;Q9UNZ3;Q9Y683", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0140268 endoplasmic reticulum-plasma membrane contact site", "go_biological_process": "GO:0006816 calcium ion transport;GO:2001256 regulation of store-operated calcium entry", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q96BY9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUK1-1", "uniprot_id": [ { "id": "SCMC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUK1", "type": "external" } ], "mass": 53354.0, "length": 477, "protein_name": "Mitochondrial adenyl nucleotide antiporter SLC25A24", "gene_name": "SLC25A24", "organism": "Human", "refseq_name": "mitochondrial adenyl nucleotide antiporter SLC25A24 isoform 1", "refseq_ac": [ { "id": "NP_037518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037518", "type": "external" } ], "gene_names_uniprotkb": "SLC25A24; APC1; MCSC1; SCAMC1", "gene_names_refseq": "APC1; SCAMC-1; SCAMC1; SLC25A24", "protein_names_uniprotkb": "Mitochondrial adenyl nucleotide antiporter SLC25A24; Mitochondrial ATP-Mg/Pi carrier protein 1; Mitochondrial Ca(2+)-dependent solute carrier protein 1; SCaMC-1; Short calcium-binding mitochondrial carrier protein 1; Solute carrier family 25 member 24", "protein_names_refseq": "ATP-Mg/P(i) co-transporter 1; calcium-binding mitochondrial carrier protein SCaMC-1; calcium-binding transporter; mitochondrial ATP-Mg/Pi carrier protein 1; mitochondrial Ca(2+)-dependent solute carrier protein 1; mitochondrial adenyl nucleotide antiporter SLC25A24 isoform 1; mitochondrial adenyl nucleotide antiporter SLC25A24; phosphate carrier), member 24; short calcium-binding mitochondrial carrier 1; short calcium-binding mitochondrial carrier protein 1; small calcium-binding mitochondrial carrier protein 1; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "Fontaine progeroid syndrome (Disease Ontology:DOID:0051067)", "pathway": " (hsa:29957)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "11237011;15054102;15123600;19608861;20068231;20877624;22015608;24332718;25645385;25892735;26164100;26768311;27452731;28350015;28510447;29100093;29557506;29632711;29769354;29789417;30379171;30429286;31611695;31686588;31844290;32162841;32350084;32387766;32938616;32983136;33592498;33968037;34087483;34357683;34509645;34561420;35051231;35241150;35251023;36010968;36215666;38665916;38980211", "class_list": "", "function": "Electroneutral antiporter that mediates the transport of adenyl nucleotides through the inner mitochondrial membrane. Originally identified as an ATP-magnesium/inorganic phosphate antiporter, it also acts as a broad specificity adenyl nucleotide antiporter. By regulating the mitochondrial matrix adenyl nucleotide pool, could adapt to changing cellular energetic demands and indirectly regulate adenyl nucleotide-dependent metabolic pathways. In vitro, a low activity is also observed with guanyl and pyrimidine nucleotides. May play a role in protecting cells against oxidative stress-induced cell death, by buffering calcium levels in the mitochondrial matrix through the formation of calcium-phosphate precipitates., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Identification of three isoforms of the mitochondrial ATP-Mg/Pi carrier APC1, APC2 and APC3; they are most likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism., [RefSeq, PubMed]; SCaMC-1 is the human orthologue of the rabbit Efinal protein, which was reported to be located in peroxisomes, [RefSeq, PubMed]; SLC25A24 gene methylation and gray matter volume in females with and without conduct disorder: an exploratory epigenetic neuroimaging study. Erratum:[Transl Psychiatry. 2021 Oct 29;11(1):553. doi: 10.1038/s41398-021-01643-w. PMID: 34716293] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]., [RefSeq]; This study confirms implication of the ACP1 gene in the treatment-related osteonecrosis in childhood acute lymphoblastic leukemia (ALL) and identifies novel, potentially causal variant of this complication., [RefSeq, PubMed]; Tumor bud-derived CCL5 recruits fibroblasts and promotes colorectal cancer progression via CCR5-SLC25A24 signaling. 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": 5, "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": "B7ZAI9;Q5T331;Q5T485;Q6PJJ9;Q705K4;Q9P129", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0000295 adenine nucleotide transmembrane transporter activity;GO:0005347 ATP transmembrane transporter activity;GO:0140987 ATP:phosphate antiporter activity;GO:0140988 ADP:phosphate antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0006839 mitochondrial transport;GO:0071277 cellular response to calcium ion;GO:0034599 cellular response to oxidative stress;GO:0015866 ADP transport;GO:0015867 ATP transport", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q6NUK1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WYP3-1", "uniprot_id": [ { "id": "RIN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WYP3", "type": "external" } ], "mass": 100163.0, "length": 895, "protein_name": "Ras and Rab interactor 2", "gene_name": "RIN2", "organism": "Human", "refseq_name": "ras and Rab interactor 2 isoform 1", "refseq_ac": [ { "id": "NP_001229510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229510", "type": "external" } ], "gene_names_uniprotkb": "RIN2; RASSF4", "gene_names_refseq": "MACS; RASSF4; RIN2", "protein_names_uniprotkb": "Ras and Rab interactor 2; Ras association domain family 4; Ras inhibitor JC265; Ras interaction/interference protein 2", "protein_names_refseq": "RAB5 interacting protein 2; RAS association (RalGDS/AF-6) domain containing protein JC265; RAS association domain family 4; RAS inhibitor JC265; RAS interaction/interference protein 2; ras and Rab interactor 2 isoform 1", "tax_id": 9606, "disease": "RIN2 syndrome (MONDO:MONDO:0013115)", "pathway": " (hsa:54453); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 222, "publication_id_list": "10818110;10990452;11038176;11179213;11230166;11237011;11516400;11689439;11703925;11733506;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18318008;18354496;18367545;1845915;18477474;1849280;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19631308;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20424861;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22706990;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;27041585;27044746;27103185;27246931;27329675;27600516;27846572;27862975;28514659;29393594;29557506;29786170;29789417;30429286;30484775;30769224;31844290;32157095;32938616;32983136;33123756;33298915;33592498;33912179;33968037;33983539;34171305;35051231;35494241;35580925;36215666;36241641;36284347;36520196;37827343;37938771;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum., [RefSeq, PubMed]; NAA20 recruits Rin2 and promotes triple-negative breast cancer progression by regulating Rab5A-mediated activation of EGFR signaling., [RefSeq, PubMed]; RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome., [RefSeq, PubMed]; Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion. Erratum:[Virchows Arch. 2023 Feb;482(2):451. doi: 10.1007/s00428-022-03485-3. PMID: 36576580], [RefSeq, PubMed]; Ras effector protein. May function as an upstream activator and/or downstream effector for RAB5B in endocytic pathway. May function as a guanine nucleotide exchange (GEF) of RAB5B, required for activating the RAB5 proteins by exchanging bound GDP for free GTP., [UniProtKB, PubMed]; The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over the GDP-bound form, and functions as a guanine nucleotide exchange factor for RAB5. The encoded protein is found primarily as a tetramer in the cytoplasm and does not bind other members of the RAB family. Mutations in this gene cause macrocephaly alopecia cutis laxa and scoliosis (MACS) syndrome, an elastic tissue disorder, as well as the related connective tissue disorder, RIN2 syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]., [RefSeq]; The endosomal RIN2/Rab5C machinery prevents VEGFR2 degradation to control gene expression and tip cell identity during angiogenesis., [RefSeq, PubMed]; These findings confirm that RIN2 defects are associated with a distinct genodermatosis and underscore the involvement of RIN2 and its associated pathways in the pathogenesis of connective tissue 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q00425;Q5TFT8;Q9BQL3;Q9H071", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0030139 endocytic vesicle;GO:0005737 cytoplasm", "go_biological_process": "GO:0006897 endocytosis;GO:0010595 positive regulation of endothelial cell migration;GO:0007264 small GTPase-mediated signal transduction;GO:2001214 positive regulation of vasculogenesis;GO:1904906 positive regulation of endothelial cell-matrix adhesion via fibronectin", "synthesized_glycan_count": 0, "hit_score": 22.3, "record_id": "Q8WYP3-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X27-1", "uniprot_id": [ { "id": "RGPS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X27", "type": "external" } ], "mass": 65167.0, "length": 583, "protein_name": "Ras-specific guanine nucleotide-releasing factor RalGPS2", "gene_name": "RALGPS2", "organism": "Human", "refseq_name": "ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 2", "refseq_ac": [ { "id": "NP_001273176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273176", "type": "external" } ], "gene_names_uniprotkb": "RALGPS2", "gene_names_refseq": "RALGPS2; dJ595C2.1", "protein_names_uniprotkb": "Ras-specific guanine nucleotide-releasing factor RalGPS2; Ral GEF with PH domain and SH3-binding motif 2; RalA exchange factor RalGPS2", "protein_names_refseq": "Ral-A exchange factor RalGPS2; ral GEF with PH domain and SH3-binding motif 2; ralA exchange factor RalGPS2; ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 2; ras-specific guanine nucleotide-releasing factor RalGPS2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55103)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;17081983;17564960;18669648;19367720;19413330;19651622;19664994;20058876;20068231;20166139;21406692;23186163;23481700;24275569;25576301;25645385;26992070;28832583;28834231;28904123;29242379;29393594;29557506;29632711;30459171;30524438;31844290;32157095;32350084;32488085;32502341;32938616;32983136;33392160;33592498;33691108;33912179;33968037;33981976;34171305;34185709;35051231;35561310;35580925;36010968", "class_list": "", "function": "Guanine nucleotide exchange factor for the small GTPase RALA. May be involved in cytoskeletal organization. May also be involved in the stimulation of transcription in a Ras-independent fashion (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": 0, "reported_phosphosites": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "B7Z7B1;Q5T5Z1;Q5VZ67;Q9NW78", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0032485 regulation of Ral protein signal transduction;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q86X27-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48029-1", "uniprot_id": [ { "id": "SC6A8_HUMAN", "url": "https://www.uniprot.org/uniprot/P48029", "type": "external" } ], "mass": 70523.0, "length": 635, "protein_name": "Sodium- and chloride-dependent creatine transporter 1", "gene_name": "SLC6A8", "organism": "Human", "refseq_name": "sodium- and chloride-dependent creatine transporter 1 isoform 2", "refseq_ac": [ { "id": "NP_001136277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136277", "type": "external" } ], "gene_names_uniprotkb": "SLC6A8", "gene_names_refseq": "CCDS1; CRT-1; CRT1; CRTR; CRT; CT1; CTR5; SLC6A8", "protein_names_uniprotkb": "Sodium- and chloride-dependent creatine transporter 1; CT1; Creatine transporter 1; Solute carrier family 6 member 8", "protein_names_refseq": "sodium- and chloride-dependent creatine transporter 1 isoform 2; sodium- and chloride-dependent creatine transporter 1; solute carrier family 6 (neurotransmitter transporter), member 8; solute carrier family 6 (neurotransmitter transporter, creatine), member 8", "tax_id": 9606, "disease": "cerebral creatine deficiency syndrome (Disease Ontology:DOID:0050798); cerebral creatine deficiency syndrome 1 (Disease Ontology:DOID:0050800); intellectual disability (Disease Ontology:DOID:1059); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:6535); (R-HSA-71288)", "pathway_count": 2, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11555793;11898126;12210795;12433955;12889669;15044463;15154114;16738945;16981706;17101918;17465020;18515020;18691976;20068231;22644605;23033978;23092983;23186163;2324105;23660394;24123876;25418920;25645385;25861866;28657654;2914937;29557506;29731959;30779550;32157095;32161166;32350084;32938616;33392160;33912179;34087483;34171305;35051231;35251023;35254053;36241641;37541260;37850681;38452609;38529720;38531017;7622069;7945388;7953292;8651275;8661155;9148748;9218780;9722522;9882430", "class_list": "", "function": "Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation., [RefSeq, PubMed]; ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes., [RefSeq, PubMed]; Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8)., [RefSeq, PubMed]; Creatine:sodium symporter which mediates the uptake of creatine (PubMed:17465020, PubMed:22644605, PubMed:25861866, PubMed:7945388, PubMed:7953292, PubMed:9882430). Plays an important role in supplying creatine to the brain via the blood-brain barrier (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]., [RefSeq]; Upregulation and epigenetic modification of the creatine transporter SLC6A8 in non-small cell lung 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": 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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "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": "B2KY47;B4DIA3;E9PFC0;Q13032;Q66I36", "ec_number_list": [], "go_molecular_function": "GO:0005332 gamma-aminobutyric acid:sodium:chloride symporter activity;GO:0005309 creatine:sodium symporter activity;GO:0005308 creatine transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0006936 muscle contraction;GO:0006865 amino acid transport;GO:0035725 sodium ion transmembrane transport;GO:0015881 creatine transmembrane transport;GO:0006836 neurotransmitter transport", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P48029-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPQ8-1", "uniprot_id": [ { "id": "RIC8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPQ8", "type": "external" } ], "mass": 59710.0, "length": 531, "protein_name": "Chaperone Ric-8A", "gene_name": "RIC8A", "organism": "Human", "refseq_name": "chaperone Ric-8A isoform 2", "refseq_ac": [ { "id": "NP_001273063", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273063", "type": "external" } ], "gene_names_uniprotkb": "RIC8A", "gene_names_refseq": "RIC8A; RIC8", "protein_names_uniprotkb": "Chaperone Ric-8A; Synembryn-A", "protein_names_refseq": "chaperone Ric-8A isoform 2; chaperone Ric-8A; resistance to inhibitors of cholinesterase 8 homolog A; synembryn-A", "tax_id": 9606, "disease": "", "pathway": " (hsa:60626)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "11230166;11237011;16629901;17081983;17525332;18318008;18669648;18691976;19690332;20068231;20479129;21406692;23186163;23301498;23481700;24275569;24715725;25074811;25505266;25576301;26154972;26992070;27096001;27600516;27846572;27869121;27920218;28119500;28514659;28832583;28834231;28904123;29242379;29508533;29557506;29632046;29632711;29786170;29966094;30410026;30429286;31154438;31844290;31848261;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34019948;34039624;34087483;34171305;34211107;34357683;34405274;34509645;34932366;35051231;35580925;36010968;36241641;36284347;38874642;40914422", "class_list": "", "function": "Chaperone that specifically binds and folds nascent G alpha proteins prior to G protein heterotrimer formation, promoting their stability and activity: folds GNAI1, GNAO1, GNA13 and GNAQ (By similarity). Does not fold G(s) G-alpha proteins GNAS nor GNAL (By similarity). Also acts as a guanine nucleotide exchange factor (GEF) for G alpha proteins by stimulating exchange of bound GDP for free GTP (By similarity). Involved in regulation of microtubule pulling forces during mitotic movement of chromosomes by stimulating G(i)-alpha protein (GNAI1), possibly leading to release G(i)-alpha-GTP and NuMA proteins from the NuMA-GPSM2-G(i)-alpha-GDP complex (By similarity). Also acts as an activator for G(q)-alpha (GNAQ) protein by enhancing the G(q)-coupled receptor-mediated ERK activation (PubMed:16629901)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; CircPDE4B prevents articular cartilage degeneration and promotes repair by acting as a scaffold for RIC8A and MID1., [RefSeq, PubMed]; Neomorphic Galphao mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies. Publication Status: Online-Only, [RefSeq, PubMed]; Ric-8A signaling leads to assembly of a cortical signaling complex that functions to orient the mitotic spindle., [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": 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": "Q0P508;Q2T9J1;Q7Z352;Q96EZ1;Q96SZ2;Q9H064;Q9H5H3;Q9H9E7", "ec_number_list": [], "go_molecular_function": "GO:0001965 G-protein alpha-subunit binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q9NPQ8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1G1-1", "uniprot_id": [ { "id": "REXO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1G1", "type": "external" } ], "mass": 131510.0, "length": 1221, "protein_name": "RNA exonuclease 1 homolog", "gene_name": "REXO1", "organism": "Human", "refseq_name": "RNA exonuclease 1 homolog", "refseq_ac": [ { "id": "NP_065746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065746", "type": "external" } ], "gene_names_uniprotkb": "REXO1; ELOABP1; KIAA1138; TCEB3BP1", "gene_names_refseq": "ELOABP1; EloA-BP1; REX1; REXO1; TCEB3BP1", "protein_names_uniprotkb": "RNA exonuclease 1 homolog; 3.1.-.-; EloA-BP1; Elongin-A-binding protein 1; Transcription elongation factor B polypeptide 3-binding protein 1", "protein_names_refseq": "REX1, RNA exonuclease 1 homolog; RNA exonuclease 1 homolog; elongin-A-binding protein 1; transcription elongation factor B polypeptide 3-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57455)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12943681;15302935;15777939;18220336;20463961;22028470;23186163;23437358;24129315;24714562;24715725;25576301;25880248;26375851;26728094;26992070;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29508533;29632046;30379171;30429286;30524438;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33717175;33912179;34087483;34171305;34211107;34932366;35051231;35318648", "class_list": "", "function": "Cloning and characterization of a novel human exonuclease domain-containing protein, Elongin A-binding protein 1; it is capable of binding not only the NH(2)-terminal approximately 120 amino acid region of Elongin A, but also that of SII, [RefSeq, PubMed]; Loss of REX1 expression demarcates stable, OCT4-positive lineage pluripotent human embryonic stem cells., [RefSeq, PubMed]; Seems to have no detectable effect on transcription elongation in vitro., [UniProtKB, PubMed]; These findings showed that REX1 regulates the proliferation/differentiation of human mesenchymal stem cells through the suppression of p38 MAPK signaling via the direct suppression of MKK3. Publication Status: Online-Only, [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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "Q9ULT2", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding;GO:0004527 exonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0031125 rRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8N1G1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00141-1", "uniprot_id": [ { "id": "SGK1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00141", "type": "external" } ], "mass": 48942.0, "length": 431, "protein_name": "Serine/threonine-protein kinase Sgk1", "gene_name": "SGK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Sgk1 isoform 2", "refseq_ac": [ { "id": "NP_001137148", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137148", "type": "external" } ], "gene_names_uniprotkb": "SGK1; SGK", "gene_names_refseq": "SGK1; SGK", "protein_names_uniprotkb": "Serine/threonine-protein kinase Sgk1; 2.7.11.1; Serum/glucocorticoid-regulated kinase 1", "protein_names_refseq": "serine/threonine protein kinase SGK; serine/threonine-protein kinase Sgk1 isoform 2; serine/threonine-protein kinase Sgk1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); transient cerebral ischemia (Disease Ontology:DOID:224); granulosa cell tumor (Disease Ontology:DOID:2999); serous cystadenocarcinoma (Disease Ontology:DOID:3114); mucinous cystadenocarcinoma (Disease Ontology:DOID:3603)", "pathway": " (hsa:6446); (R-HSA-1257604); (R-HSA-2672351); (R-HSA-6804757); (R-HSA-8986944); (R-HSA-9031628)", "pathway_count": 6, "publication_count": 392, "publication_id_list": "10191262;10203854;10357815;10381005;10548550;10564087;10608892;10611221;10611312;10642508;10656257;10720933;10722742;10734128;10767424;10826704;10830164;10831588;10872467;10882540;10884438;10980695;10980696;10984481;11018254;11027551;11096081;11147812;11154281;11182090;11237011;11254654;11280768;11331872;11343657;11359766;11410590;11504915;11567222;11588175;11687798;11696533;11734858;11755530;11803464;11840323;11842292;11904445;11923872;11956057;11956230;11983168;12023960;12167717;12393854;12397388;12399542;12511643;12590200;12631736;12634932;12649597;12650886;12761204;12767043;12907679;12911626;1377233;1379744;14507994;14522948;14584882;14597720;14623317;14634667;14706641;14969744;15010458;15040001;15044175;15044642;15053880;15102911;15147738;15161978;15209375;15234985;15318163;15319523;1535557;15449318;15496163;15504734;15505377;15542842;15576372;15620361;1570299;15718470;15733869;15737648;15788536;15836632;15845389;15880109;15888551;15916532;15916963;15917303;15919655;16034366;16036218;16136673;1614537;16163388;16187211;16219661;16221685;16260776;16287845;16339507;16402859;16407550;16443776;16460280;16474402;16484497;16574654;16732277;16813530;16845383;16849430;16850186;16982696;17088210;17088211;17088212;17121812;17202226;17344846;17381423;17382906;17448995;17632064;17699613;17881003;17898216;17965184;18000046;18005662;18056528;18063579;18088355;18160048;18304449;18310267;18334630;1833716;18400985;18449189;18456662;18508966;18524893;18570873;1861162;18662336;18691976;18724360;18753299;18925875;19025518;19061646;19068477;19116276;19153159;19193899;19194657;19307298;19369195;19380724;19387438;19447520;19584721;19620632;19756449;19805105;19808995;19816404;19838211;19926875;19953639;20068231;20112406;2017159;20338997;20388639;2040600;20438709;20466723;20506119;20511718;2052361;20525693;20530112;20538786;20713061;2072895;20730100;20919962;21040849;21057636;2109185;21326363;21486943;21527911;21621608;21730132;21730163;21827948;21865597;21963429;21984732;21986495;22002868;22053691;22065583;22302795;2237820;22773952;22842983;22946059;2298749;23112050;2321095;23581296;23616951;23783831;24060757;24715725;25248477;2536303;25384981;25569790;25576301;25645385;25748042;25892735;26018600;26154972;26359375;26375851;26562072;2676516;26843422;27041596;27128622;27220739;27600516;27846572;27862975;28071645;28076410;28106162;28154142;28228285;28275114;28286024;28445935;28514659;28683304;28790369;28832583;28904123;28916818;29242379;29331515;29393594;29439494;29493099;29508533;29557506;29559111;29769354;29786170;29789417;29930759;30315122;30429286;30524438;30622697;30779550;30833945;31154438;31222486;3127059;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33392160;33592498;33691108;33968037;34171305;34185709;34509645;34932366;35051231;35580925;36010968;36215666;36241641;36284347;36373794;3672127;37938771;38081797;38250161;38722402;39025049;39366761;7551568;7588753;7592934;7595538;7608156;7624335;7637810;7665160;7686617;7744773;7777577;7784084;7795595;7823924;7857651;7871435;7876254;7923378;7957050;8041726;8090221;8090222;8112288;8248782;8319905;8383669;8413279;8479525;8483478;8533761;8544406;8576248;8583621;8626462;8645157;8668170;8756618;8809036;8846918;8887688;8918830;8954786;9032251;9037075;9084409;9114008;9343422;9390517;9395096;9418898;9571199;9622090;9662395;9700209;9719863;9722618;9722955;9736715;9744806;9770464;9774344;9808461;9822744;9858769;9895304", "class_list": "", "function": "Cholesterol promotes IFNG mRNA expression in CD4[+] effector/memory cells by SGK1 activation. Publication Status: Online-Only, [RefSeq, PubMed]; MicroRNA-223-3p Targeting SGK1 Regulates Apoptosis and Inflammation in Sepsis-Associated Acute Kidney Injury., [RefSeq, PubMed]; SGK1 aggravates idiopathic pulmonary fibrosis by triggering H3k27ac-mediated macrophage reprogramming and disturbing immune homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarization and memory consolidation. Up-regulates Na(+) channels: SCNN1A/ENAC, SCN5A and ASIC1/ACCN2, K(+) channels: KCNJ1/ROMK1, KCNA1-5, KCNQ1-5 and KCNE1, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channels: BSND, CLCN2 and CFTR, glutamate transporters: SLC1A3/EAAT1, SLC1A2 /EAAT2, SLC1A1/EAAT3, SLC1A6/EAAT4 and SLC1A7/EAAT5, amino acid transporters: SLC1A5/ASCT2, SLC38A1/SN1 and SLC6A19, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, glutamate receptor: GRIK2/GLUR6. Up-regulates carriers: SLC9A3/NHE3, SLC12A1/NKCC2, SLC12A3/NCC, SLC5A3/SMIT, SLC2A1/GLUT1, SLC5A1/SGLT1 and SLC15A2/PEPT2. Regulates enzymes: GSK3A/B, PMM2 and Na(+)/K(+) ATPase, and transcription factors: CTNNB1 and nuclear factor NF-kappa-B. Stimulates sodium transport into epithelial cells by enhancing the stability and expression of SCNN1A/ENAC. This is achieved by phosphorylating the NEDD4L ubiquitin E3 ligase, promoting its interaction with 14-3-3 proteins, thereby preventing it from binding to SCNN1A/ENAC and targeting it for degradation. Regulates store-operated Ca(+2) entry (SOCE) by stimulating ORAI1 and STIM1. Regulates KCNJ1/ROMK1 directly via its phosphorylation or indirectly via increased interaction with SLC9A3R2/NHERF2. Phosphorylates MDM2 and activates MDM2-dependent ubiquitination of p53/TP53. Phosphorylates MAPT/TAU and mediates microtubule depolymerization and neurite formation in hippocampal neurons. Phosphorylates SLC2A4/GLUT4 and up-regulates its activity. Phosphorylates APBB1/FE65 and promotes its localization to the nucleus. Phosphorylates MAPK1/ERK2 and activates it by enhancing its interaction with MAP2K1/MEK1 and MAP2K2/MEK2. Phosphorylates FBXW7 and plays an inhibitory role in the NOTCH1 signaling. Phosphorylates FOXO1 resulting in its relocalization from the nucleus to the cytoplasm. Phosphorylates FOXO3, promoting its exit from the nucleus and interference with FOXO3-dependent transcription. Phosphorylates BRAF and MAP3K3/MEKK3 and inhibits their activity. Phosphorylates SLC9A3/NHE3 in response to dexamethasone, resulting in its activation and increased localization at the cell membrane. Phosphorylates CREB1. Necessary for vascular remodeling during angiogenesis. Sustained high levels and activity may contribute to conditions such as hypertension and diabetic nephropathy. Isoform 2 exhibited a greater effect on cell plasma membrane expression of SCNN1A/ENAC and Na(+) transport than isoform 1., [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]; Serum/glucocorticoid-regulated kinase 1 contributes to the proliferation of varicella-zoster virus and induction of cyclin B1 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Suppression of circular RNA serum and glucocorticoid-induced kinase 1 elevates antioxidant molecules and angiogenesis in trophoblast cells to attenuate preeclampsia via microRNA-508-3p to target and restrain PUM homolog 1., [RefSeq, PubMed]; This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 15, "reported_mutagensis": 7, "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": "B7UUP7;B7UUP8;B7UUP9;B7Z5B2;E1P583;Q5TCN2;Q5TCN3;Q5TCN4;Q5VY65;Q9UN56", "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:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0005246 calcium channel regulator activity;GO:0015459 potassium channel regulator activity;GO:0017080 sodium channel regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0060453 regulation of gastric acid secretion;GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0042127 regulation of cell population proliferation;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 39.3, "record_id": "O00141-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2E6-1", "uniprot_id": [ { "id": "SEM6A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2E6", "type": "external" } ], "mass": 114369.0, "length": 1030, "protein_name": "Semaphorin-6A", "gene_name": "SEMA6A", "organism": "Human", "refseq_name": "semaphorin-6A isoform 1 precursor", "refseq_ac": [ { "id": "NP_001287709", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287709", "type": "external" } ], "gene_names_uniprotkb": "SEMA6A; KIAA1368; SEMAQ", "gene_names_refseq": "HT018; SEMA6A1; SEMA6A; SEMAQ; SEMA; VIA", "protein_names_uniprotkb": "Semaphorin-6A; SEMA6A-1; Sema VIA; Semaphorin VIA; Semaphorin-6A-1", "protein_names_refseq": "SEMA6A-1; sema VIa; sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A; semaphorin 6A-1; semaphorin VIA; semaphorin-6A isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:57556); (R-HSA-416700)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;10520995;10648410;10993894;11114375;11237011;12882840;15218527;15550623;16436660;16715077;17318185;21406692;28832583;28982852;29242379;29391424;29786170;31154438;31511512;31527696;31687947;31848261;32302524;32589945;8955171", "class_list": "", "function": "(Microbial infection) Acts as a receptor for P.sordellii toxin TcsL in the in the vascular endothelium., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Cell surface receptor for PLXNA2 that plays an important role in cell-cell signaling. Required for normal granule cell migration in the developing cerebellum. Promotes reorganization of the actin cytoskeleton and plays an important role in axon guidance in the developing central nervous system. Can act as repulsive axon guidance cue. Has repulsive action towards migrating granular neurons. May play a role in channeling sympathetic axons into the sympathetic chains and controlling the temporal sequence of sympathetic target innervation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Genome-Wide CRISPR Screen Identifies Semaphorin 6A and 6B as Receptors for Paeniclostridium sordellii Toxin TcsL., [RefSeq, PubMed]; MiR-203 induces the apoptosis of YD-38 human oral cancer cells by directly targeting SEMA6A., [RefSeq, PubMed]; RNA-guided epigenetic editing of Sema6a gene promoters via a dCas9-SunTag system with C11orf46 binding normalized SEMA6A expression and rescued transcallosal dysconnectivity via repressive chromatin remodeling by the SETDB1 repressor complex. Publication Status: Online-Only, [RefSeq, PubMed]; Semaphorin 6A Attenuates the Migration Capability of Lung Cancer Cells via the NRF2/HMOX1 Axis. Publication Status: Online-Only, [RefSeq, PubMed]; Strong expression of SEMA6A is associated with langerhans cells of histiocytosis or dermatopathic lymphadenitis, [RefSeq, PubMed]; The A alleles of SEMA6A and POMP genes are likely the risk factors of disease development in Georgians, [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": 4, "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": 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": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q9P2H9", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007399 nervous system development;GO:0071526 semaphorin-plexin signaling pathway;GO:0006915 apoptotic process;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9H2E6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43556-1", "uniprot_id": [ { "id": "SGCE_HUMAN", "url": "https://www.uniprot.org/uniprot/O43556", "type": "external" } ], "mass": 49851.0, "length": 437, "protein_name": "Epsilon-sarcoglycan", "gene_name": "SGCE", "organism": "Human", "refseq_name": "epsilon-sarcoglycan isoform 3", "refseq_ac": [ { "id": "NP_001092870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092870", "type": "external" } ], "gene_names_uniprotkb": "SGCE; ESG; PRO840", "gene_names_refseq": "DYT11; ESG; SGCE; epsilon-SG", "protein_names_uniprotkb": "Epsilon-sarcoglycan; Epsilon-SG", "protein_names_refseq": "dystonia 11, myoclonic; epsilon-sarcoglycan isoform 3", "tax_id": 9606, "disease": "myoclonic dystonia 11 (Disease Ontology:DOID:0090034); stomach cancer (Disease Ontology:DOID:10534)", "pathway": " (hsa:8910); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10.1101/2023.09.13.557529;10022829;10189375;10441321;10545507;10893187;10932245;10942431;11237011;11352924;11430802;11495720;11528394;12189167;12402271;12444570;12975309;1319059;15079037;15175026;15193417;15258227;16227522;16524571;17853490;17905726;18175340;18362280;18764929;19066193;19159218;19346169;19946898;20044576;20112406;21796726;22159078;22223806;24190977;24366607;25418920;25502872;25576301;25645385;26154972;26811146;26992070;27600516;27846572;28063628;28467828;28904123;29393594;29437277;29557506;29632046;29741879;30315122;30410026;30573663;30626607;31154438;31217245;31530632;31844290;32157095;32161166;32265295;32350084;32357974;32488085;32502341;3282674;32897882;32938616;33298915;33592498;33886091;33912179;33968037;34357683;34405274;34932366;35051231;35154160;35580925;36010968;36161439;36204995;36284347;37074911;37838174;37938771;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8798547;8845841;9214383;9405466;9412493;9475163;9652404;9864373", "class_list": "", "function": "Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia., [RefSeq, PubMed]; Epsilon-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene. Review article, [RefSeq, PubMed]; Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia, [RefSeq, PubMed]; Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia., [RefSeq, PubMed]; SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1., [RefSeq, PubMed]; This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [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": 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": 15, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R8N2;D6W5Q8;E9PF60;G5E9K6;Q6L8P0;Q75MH8;Q8NFG8;Q8WW28", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005856 cytoskeleton;GO:0005886 plasma membrane", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0007517 muscle organ development;GO:0099536 synaptic signaling", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "O43556-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95754-1", "uniprot_id": [ { "id": "SEM4F_HUMAN", "url": "https://www.uniprot.org/uniprot/O95754", "type": "external" } ], "mass": 83511.0, "length": 770, "protein_name": "Semaphorin-4F", "gene_name": "SEMA4F", "organism": "Human", "refseq_name": "semaphorin-4F isoform 2 precursor", "refseq_ac": [ { "id": "NP_001258590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258590", "type": "external" } ], "gene_names_uniprotkb": "SEMA4F; SEMAM; SEMAW", "gene_names_refseq": "M-SEMA; PRO2353; S4F; SEMA4F; SEMAM; SEMAW; m-Sema-M", "protein_names_uniprotkb": "Semaphorin-4F; Sema M; Sema W; Semaphorin-M; Semaphorin-W", "protein_names_refseq": "sema domain immunoglobulin domain transmembrane domain (TM) and short cytoplasmic domain (semaphorin) 4F; sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F; semaphorin M; semaphorin-4F isoform 2 precursor; semaphorin-4F; semaphorin-W", "tax_id": 9606, "disease": "", "pathway": " (hsa:10505); (R-HSA-9696264)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;10051670;11230166;11237011;11901358;11940653;12842009;15738000;16303743;18996843;19056885;20811643;24190977;24715725;25645385;25880248;26969432;27846572;28832583;28904123;29242379;29557506;29769354;31844290;31871319;32357974;32387766;32488085;33392160;33981976;34357683;8649376", "class_list": "", "function": "Fine mapping of the chromosome 2p12-16 dyslexia susceptibility candidate gene, [RefSeq, PubMed]; Probable cell surface receptor that regulates oligodendroglial precursor cell migration (By similarity). Might also regulate differentiation of oligodendroglial precursor cells (By similarity). Has growth cone collapse activity against retinal ganglion-cell axons (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Probable cell surface receptor that regulates oligodendroglial precursor cell migration. Might also regulate differentiation of oligodendroglial precursor cells. Has growth cone collapse activity against retinal ganglion-cell axons., [UniProtKB, UniProtKB, UniProtKB]; Sema4F levels were strongly reduced in a panel of human neurofibromas, confirming the relevance of these findings to the human disease., [RefSeq, PubMed]; This gene encodes a transmembrane class IV semaphorin family protein, which plays a role in neural development. This gene may be involved in neurogenesis in prostate cancer, the development of neurofibromas, and breast cancer tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]., [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": 19, "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": "Q542Y7;Q9NS35", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "O95754-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A35-1", "uniprot_id": [ { "id": "RM24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A35", "type": "external" } ], "mass": 24915.0, "length": 216, "protein_name": "Large ribosomal subunit protein uL24m", "gene_name": "MRPL24", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL24m", "refseq_ac": [ { "id": "NP_078816", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078816", "type": "external" } ], "gene_names_uniprotkb": "MRPL24", "gene_names_refseq": "L24mt; MRP-L18; MRP-L24; MRPL24; uL24m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL24m; 39S ribosomal protein L24, mitochondrial; L24mt; MRP-L24", "protein_names_refseq": "39S ribosomal protein L24, mitochondrial; large ribosomal subunit protein uL24m; mitochondrial large ribosomal subunit protein uL24m", "tax_id": 9606, "disease": "", "pathway": " (hsa:79590); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 63, "publication_id_list": "11237011;11543634;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;20877624;21907147;22172991;2250005;23186163;25233460;25278503;25418920;25576301;25838379;25892735;26154972;26811146;26929215;26992070;27029019;27920218;28063628;28446606;28510447;28832583;28892042;28904123;29242379;29393594;29632046;29786170;30192525;30315122;30379171;30429286;31217245;31844290;32157095;32161166;32265295;32387766;32897882;32938616;32983136;33141586;33243891;33298915;33717175;33878294;33936100;34357683;34509645;35177605;36302763;36581221;36596788;37141370", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]., [RefSeq]; 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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DVC8;Q53G65;Q53HT0;Q5SYZ9;Q5SZ00;Q5SZ02;Q96Q70;Q9H7G3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q96A35-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13275-1", "uniprot_id": [ { "id": "SEM3F_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13275", "type": "external" } ], "mass": 88381.0, "length": 785, "protein_name": "Semaphorin-3F", "gene_name": "SEMA3F", "organism": "Human", "refseq_name": "semaphorin-3F isoform 2 precursor", "refseq_ac": [ { "id": "NP_001305729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305729", "type": "external" } ], "gene_names_uniprotkb": "SEMA3F", "gene_names_refseq": "SEMA-IV; SEMA3F; SEMA4; SEMAK", "protein_names_uniprotkb": "Semaphorin-3F; Sema III/F; Sema IV; Semaphorin IV", "protein_names_refseq": "sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F; sema domain, immunoglobulin domain (Ig), short basic domain, secreted, 3F; semaphorin III/F; semaphorin IV; semaphorin-3F isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6405)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23090970;29671580;29741879;30459171;31844290;32441221;33141586;33595613;33856648;37074911;37114652;39138514;8633026;8649831;8786119", "class_list": "", "function": "May play a role in cell motility and cell adhesion., [UniProtKB]; Reverse effect of Semaphorin-3F on rituximab resistance in diffuse large B-cell lymphoma via the Hippo pathway., [RefSeq, PubMed]; Semaphorin 3F Serves as a Tumor Suppressor in Esophageal Squamous Cell Carcinoma and is Associated With Lymph Node Metastasis in Disease Progression., [RefSeq, PubMed]; Semaphorin 3fa Controls Ocular Vascularization From the Embryo Through to the Adult., [RefSeq, PubMed]; Semaphorin3F Drives Dendritic Spine Pruning Through Rho-GTPase Signaling., [RefSeq, PubMed]; The SEMA3F-NRP1/NRP2 axis is a key factor in the acquisition of invasive traits in in situ breast ductal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 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": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "C9JQ85;Q13274;Q13372;Q15704;Q6GTR4", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0097490 sympathetic neuron projection extension;GO:0097491 sympathetic neuron projection guidance;GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q13275-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49406-1", "uniprot_id": [ { "id": "RM19_HUMAN", "url": "https://www.uniprot.org/uniprot/P49406", "type": "external" } ], "mass": 33535.0, "length": 292, "protein_name": "Large ribosomal subunit protein bL19m", "gene_name": "MRPL19", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL19m", "refseq_ac": [ { "id": "NP_055578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055578", "type": "external" } ], "gene_names_uniprotkb": "MRPL19; KIAA0104; MRPL15", "gene_names_refseq": "L15mt; L19mt; MRP-L15; MRP-L19; MRPL19; RLX1; RPML15; bL19m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL19m; 39S ribosomal protein L15, mitochondrial; 39S ribosomal protein L19, mitochondrial; L15mt; L19mt; MRP-L15; MRP-L19", "protein_names_refseq": "39S ribosomal protein L15, mitochondrial; 39S ribosomal protein L19, mitochondrial; large ribosomal subunit protein bL19m; mitochondrial large ribosomal subunit protein bL19m", "tax_id": 9606, "disease": "", "pathway": " (hsa:9801); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 74, "publication_id_list": "10600119;11237011;11543634;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;21209280;21907147;22172991;22424782;2250005;23186163;23481700;25233460;25278503;25367160;25418920;25505266;25576301;25838379;26154972;26992070;27029019;27846572;27920218;28228285;28510447;28514659;28832583;28892042;28904123;29242379;29508533;29566979;29632046;29632711;30379171;31217245;31844290;32157095;32387766;32488085;32502341;32897882;32938616;33141586;33243891;33392160;33537174;33691108;33878294;33912179;33936100;33968037;34185709;34211107;34357683;34509645;35051231;35177605;35580925;36010968;36241641;36284347;36302763;36596788;37141370;40596516;40914422", "class_list": "", "function": "Candidate gene MRPL19 is involved in the development of Reading disorder., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit 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": 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": 5, "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": "Q53TX9;Q96Q52", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P49406-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXA5-1", "uniprot_id": [ { "id": "SACA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXA5", "type": "external" } ], "mass": 23431.0, "length": 215, "protein_name": "Sperm acrosome membrane-associated protein 3", "gene_name": "SPACA3", "organism": "Human", "refseq_name": "sperm acrosome membrane-associated protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001304155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304155", "type": "external" } ], "gene_names_uniprotkb": "SPACA3; LYC3; LYZL3; PRO862; SLLP1; SPRASA", "gene_names_refseq": "ALLP17; CT54; LYC3; LYZC; LYZL3; SLLP1; SPACA3", "protein_names_uniprotkb": "Sperm acrosome membrane-associated protein 3; CT54; Cancer/testis antigen 54; Lysozyme-like acrosomal sperm-specific secretory protein ALLP-17; Lysozyme-like protein 3; Sperm lysozyme-like protein 1; Sperm protein reactive with ASA; Sperm protein reactive with antisperm antibodies", "protein_names_refseq": "cancer/testis antigen 54; lysozyme C; lysozyme-like acrosomal sperm-specific secretory protein ALLP-17; lysozyme-like protein 3; lysozyme-like sperm-specific secretory protein ALLP17; sperm acrosome membrane-associated protein 3 isoform 2; sperm acrosome membrane-associated protein 3; sperm lysozyme-like protein 1; sperm lyzozyme-like acrosomal protein 1; sperm protein reactive with ASA; sperm protein reactive with antisperm antibodies", "tax_id": 9606, "disease": "viral infectious disease (Disease Ontology:DOID:934)", "pathway": " (hsa:124912)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12606493;12975309;14747161;15475442;16014814;21740066;24872021;25038051;26088750;29557506;32983136", "class_list": "glycogene;glycosylhydrolase", "function": "Authors present evidence that the variants could affect the expression levels or function of SPRASA, thereby affecting a couple's fertility., [RefSeq, PubMed]; SLLP1 could be a potential receptor for the egg oligosaccharide residue N-acetylglucosamine, which is present in the extracellular matrix over the egg plasma membrane, [RefSeq, PubMed]; SLLP1 is capable of eliciting B-cell immune responses in vivo in cancer-bearing individuals., [RefSeq, PubMed]; SLLP1 represents a promising target for the immunotherapy of multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; Sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization. It could be a potential receptor for the egg oligosaccharide residue N-acetylglucosamine, which is present in the extracellular matrix over the egg plasma membrane. The processed form has no detectable bacteriolytic activity in vitro., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The levels of antibodies reactive with SPRASA were elevated in infertile women., [RefSeq, PubMed]; The protein encoded by this gene is a sperm surface protein that may be involved in adhesion to the egg prior to fertilization. While the encoded protein has significant similarity to lysozyme at the amino acid level, it has no detectable bacteriocidal activity. Several transcript variants encoding different isoforms have been found for this gene. [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 298, "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": "Q7Z4Y5", "ec_number_list": [], "go_molecular_function": "GO:0003796 lysozyme activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0030141 secretory granule;GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum;GO:0002080 acrosomal membrane", "go_biological_process": "GO:0043032 positive regulation of macrophage activation;GO:0007342 fusion of sperm to egg plasma membrane involved in single fertilization;GO:0042117 monocyte activation;GO:0050766 positive regulation of phagocytosis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8IXA5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07699-1", "uniprot_id": [ { "id": "SCN1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07699", "type": "external" } ], "mass": 24707.0, "length": 218, "protein_name": "Sodium channel regulatory subunit beta-1", "gene_name": "SCN1B", "organism": "Human", "refseq_name": "sodium channel regulatory subunit beta-1 isoform a precursor", "refseq_ac": [ { "id": "NP_001028", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001028", "type": "external" } ], "gene_names_uniprotkb": "SCN1B", "gene_names_refseq": "ATFB13; BRGDA5; DEE52; EIEE52; GEFSP1; SCN1B", "protein_names_uniprotkb": "Sodium channel regulatory subunit beta-1", "protein_names_refseq": "sodium channel regulatory subunit beta-1 isoform a precursor; sodium channel regulatory subunit beta-1; sodium channel subunit beta-1; sodium channel, voltage gated, type I beta subunit; sodium channel, voltage-gated, type I, beta", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); developmental and epileptic encephalopathy 52 (Disease Ontology:DOID:0080455); Brugada syndrome 5 (Disease Ontology:DOID:0110222); generalized epilepsy with febrile seizures plus 1 (Disease Ontology:DOID:0111302); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6324); (R-HSA-445095); (R-HSA-5576892); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 80, "publication_id_list": "10761935;11222639;11237011;11290418;11917125;12015988;1309946;1325650;14500339;14622265;14634208;15000524;15353592;15385606;15525788;15738140;16597699;16904324;17167479;17223356;17506496;17928445;18184654;18464934;19104071;19406745;19522081;19696921;19710327;19808477;20022913;20033988;20112406;21040232;21127204;21422378;21566136;21795555;21817159;21994374;22054663;22514276;23148524;23632330;23804213;24157691;24214976;24360415;24633359;24715725;25853419;26377607;26900580;28256214;29466837;29659026;29744740;29992740;30013099;30190309;30484775;30563861;30765606;33091337;33592498;34171305;35277491;35801810;36696443;36823201;38139087;40768348;7720699;7851891;8107964;8125980;8288584;8394762;9065781;9697698", "class_list": "", "function": "Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population., [RefSeq, PubMed]; Cell adhesion molecule that plays a critical role in neuronal migration and pathfinding during brain development. Stimulates neurite outgrowth (PubMed:21994374). Has no regulatory function on the SCN2A sodium channel complex (PubMed:14622265)., [UniProtKB, PubMed, PubMed]; Identification and characterization of a novel splicing variant; functional studies in oocytes demonstrate that the beta1B subunit increases the ionic current when coexpressed with the tetrodotoxin sensitive channel, NaV1.2, [RefSeq, PubMed]; Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study. Publication Status: Online-Only, [RefSeq, PubMed]; Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes (PubMed:40768348). Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient (PubMed:40768348). The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:14622265, PubMed:15525788, PubMed:18464934, PubMed:19710327, PubMed:29992740, PubMed:36696443, PubMed:8125980, PubMed:8394762). The accessory beta subunits participate in localization and functional modulation of the Nav channels (PubMed:15525788, PubMed:19710327, PubMed:29992740). Modulates the activity of SCN1A/Nav1.1, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN4A/Nav1.4, SCN5A/Nav1.5, SCN8A/Nav1.6, SCN9A/Nav1.7 and SCN10A/Nav1.8 (PubMed:14622265, PubMed:15525788, PubMed:18464934, PubMed:30765606, PubMed:36696443, PubMed:8125980, PubMed:8394762)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for 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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5TZZ4;Q6TN97", "ec_number_list": [], "go_molecular_function": "GO:0019871 sodium channel inhibitor activity;GO:0017080 sodium channel regulator activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0043204 perikaryon;GO:0014704 intercalated disc;GO:0030315 T-tubule", "go_biological_process": "GO:0007155 cell adhesion;GO:0010976 positive regulation of neuron projection development;GO:0042391 regulation of membrane potential;GO:0051899 membrane depolarization;GO:0086010 membrane depolarization during action potential", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q07699-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15858-1", "uniprot_id": [ { "id": "SCN9A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15858", "type": "external" } ], "mass": 226372.0, "length": 1988, "protein_name": "Sodium channel protein type 9 subunit alpha", "gene_name": "SCN9A", "organism": "Human", "refseq_name": "sodium channel protein type 9 subunit alpha isoform 2", "refseq_ac": [ { "id": "NP_001352465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352465", "type": "external" } ], "gene_names_uniprotkb": "SCN9A; NENA", "gene_names_refseq": "ETHA; FEB3B; GEFSP7; HSAN2D; NE-NA; NENA; Nav1.7; PN1; SCN9A; SFNP", "protein_names_uniprotkb": "Sodium channel protein type 9 subunit alpha; Neuroendocrine sodium channel; PN1; Peripheral sodium channel 1; Sodium channel protein type IX subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.7; hNE-Na", "protein_names_refseq": "hNE-Na; neuroendocrine sodium channel; peripheral sodium channel 1; sodium channel protein type 9 subunit alpha isoform 2; sodium channel protein type 9 subunit alpha; sodium channel protein type IX subunit alpha; sodium channel, voltage-gated, type IX, alpha polypeptide; sodium channel, voltage-gated, type IX, alpha subunit; voltage-gated sodium channel alpha subunit Nav1.7; voltage-gated sodium channel subunit alpha Nav1.7", "tax_id": 9606, "disease": "generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); autosomal recessive congenital indifference to pain (Disease Ontology:DOID:0070688); Dravet syndrome (Disease Ontology:DOID:0080422); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); paroxysmal extreme pain disorder (Disease Ontology:DOID:0111537); epilepsy (Disease Ontology:DOID:1826); erythromelalgia (Disease Ontology:DOID:9240)", "pathway": " (hsa:6335); (R-HSA-445095); (R-HSA-5576892); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 99, "publication_id_list": "10.1101/2023.09.13.557529;10761935;11222639;11237011;11290418;11917125;12015988;1309946;1325650;14500339;14634208;14985375;15000524;15178348;15302875;15353592;15385606;15738140;15955112;15958509;16216943;16392115;16597699;16702558;16904324;16988069;17145499;17167479;17223356;17506496;18184654;18945915;19104071;19369487;19406745;19696921;19763161;20022913;20033988;20635406;20855463;21127204;21422378;21566136;21659528;21795555;21817159;21887265;22054663;22514276;23077250;23632330;23804213;24157691;24214976;24311784;24360415;24497506;24633359;25240195;25285947;25853419;26377607;26680203;28256214;28428547;29242379;29466837;29557506;29659026;29744740;30013099;30563861;30661758;30733386;30765606;30795902;31647222;31844290;32350084;32938616;33109704;33216760;33912179;33968037;35051231;35251023;37117223;37217939;38381792;38394191;38743485;38999942;40768348;7720699;8107964;8288584;9065781;9169448", "class_list": "", "function": "Data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans GeneRIF: An SCN9A channelopathy causes congenital inability to experience pain, [RefSeq, PubMed]; Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene. Erratum:[PLoS One. 2024 Mar 26;19(3):e0301489. doi: 10.1371/journal.pone.0301489. PMID: 38530842] Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming subunit of Nav1.7, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes (PubMed:38381792, PubMed:40768348). Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient (PubMed:38381792, PubMed:40768348). The influx of Na(+) ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:15385606, PubMed:16988069, PubMed:17145499, PubMed:17167479, PubMed:19369487, PubMed:24311784, PubMed:25240195, PubMed:26680203, PubMed:7720699). Nav1.7 plays a crucial role in controlling the excitability and action potential propagation from nociceptor neurons, thereby contributing to the sensory perception of pain (PubMed:17145499, PubMed:17167479, PubMed:19369487, PubMed:24311784)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Role of NaV1.7 in postganglionic sympathetic nerve function in human and guinea-pig arteries., [RefSeq, PubMed]; This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain disorder. [provided by RefSeq, Aug 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": 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": 1, "reported_phosphosites": 1, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 81, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A1BUH5;Q6B4R9;Q6B4S0;Q6B4S1;Q70HX1;Q70HX2;Q8WTU1;Q8WWN4", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005248 voltage-gated sodium channel activity;GO:0005272 sodium channel activity;GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0043679 axon terminus;GO:0033268 node of Ranvier;GO:0001518 voltage-gated sodium channel complex", "go_biological_process": "GO:0019228 neuronal action potential;GO:0019233 sensory perception of pain;GO:0050965 detection of temperature stimulus involved in sensory perception of pain;GO:0086010 membrane depolarization during action potential;GO:0007623 circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q15858-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50443-1", "uniprot_id": [ { "id": "S26A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P50443", "type": "external" } ], "mass": 81662.0, "length": 739, "protein_name": "Sulfate transporter", "gene_name": "SLC26A2", "organism": "Human", "refseq_name": "sulfate transporter", "refseq_ac": [ { "id": "NP_000103", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000103", "type": "external" } ], "gene_names_uniprotkb": "SLC26A2; DTDST; DTD", "gene_names_refseq": "D5S1708; DTDST; DTD; EDM4; MST153; MSTP157; SLC26A2", "protein_names_uniprotkb": "Sulfate transporter; Diastrophic dysplasia protein; Solute carrier family 26 member 2", "protein_names_refseq": "diastrophic dysplasia protein; solute carrier family 26 (anion exchanger), member 2; solute carrier family 26 (sulfate transporter), member 2; sulfate anion transporter 1; sulfate transporter", "tax_id": 9606, "disease": "brachydactyly (Disease Ontology:DOID:0050581); atelosteogenesis (Disease Ontology:DOID:0050648); multiple epiphyseal dysplasia 4 (Disease Ontology:DOID:0070300); achondrogenesis type IB (Disease Ontology:DOID:0080055); diastrophic dysplasia (Disease Ontology:DOID:14687); osteochondrodysplasia (Disease Ontology:DOID:2256); spondylolysis (Disease Ontology:DOID:2300); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676)", "pathway": " (hsa:1836); (R-HSA-174362); (R-HSA-3560792); (R-HSA-427601)", "pathway_count": 4, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;10465113;10466420;11237011;11247665;11303514;11448940;11565064;11829495;11834742;12220459;12626430;12713736;12716889;12759755;12966518;15155570;15294877;15316973;15591059;16492677;16914891;17673510;18669648;18708426;18925670;19651622;20219950;21922596;23506885;24051746;24714562;25645385;26992070;27600516;28218747;28904123;29024831;29557506;29632711;29789417;30315122;30429286;30833945;31154438;31222486;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32502341;32938616;32983136;33298915;33592498;33912179;33968037;34171305;34357683;34509645;35051231;35251023;35318648;35325049;35580925;37938771;38946362;38956600;4644462;702237;7683425;7923357;8300633;8528239;8571951;8619989;8723083;8896562;8931695;9576487;9637425;9668121;9771708", "class_list": "glycogene", "function": "Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Sulfate transporter which mediates sulfate uptake into chondrocytes in order to maintain adequate sulfation of proteoglycans which is needed for cartilage development (PubMed:11448940, PubMed:15294877, PubMed:20219950, PubMed:7923357). Mediates electroneutral anion exchange of sulfate ions for oxalate ions and of sulfate and oxalate ions for chloride ions (PubMed:20219950). Mediates exchange of sulfate and oxalate ions for hydroxyl ions and of chloride ions for bromide, iodide and nitrate ions (By similarity). The coupling of sulfate transport to both hydroxyl and chloride ions likely serves to ensure transport at both acidic pH when most sulfate uptake is mediated by sulfate-hydroxide exchange and alkaline pH when most sulfate uptake is mediated by sulfate-chloride exchange (By similarity). Essential for chondrocyte proliferation, differentiation and cell size expansion (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The diastrophic dysplasia sulfate transporter is a transmembrane glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]., [RefSeq]; [Analysis of genetic variants and molecular pathogenesis in a Chinese pedigree affected with Multiple epiphyseal dysplasia]., [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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1017, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 3, "disease_count": 8, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K2U3;B2R6J1;Q6N051", "ec_number_list": [], "go_molecular_function": "GO:0005452 solute:inorganic anion antiporter activity;GO:0019531 oxalate transmembrane transporter activity;GO:0008271 secondary active sulfate transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity;GO:0140900 chloride:bicarbonate antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0031528 microvillus membrane", "go_biological_process": "GO:0019532 oxalate transport;GO:1902476 chloride transmembrane transport;GO:0002062 chondrocyte differentiation;GO:0035988 chondrocyte proliferation;GO:1902358 sulfate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "P50443-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRK0-1", "uniprot_id": [ { "id": "REEP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRK0", "type": "external" } ], "mass": 28261.0, "length": 252, "protein_name": "Receptor expression-enhancing protein 2", "gene_name": "REEP2", "organism": "Human", "refseq_name": "receptor expression-enhancing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001258732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258732", "type": "external" } ], "gene_names_uniprotkb": "REEP2; C5orf19; SGC32445", "gene_names_refseq": "C5orf19; REEP2; SGC32445; SPG72A; SPG72B; SPG72; Yip2d", "protein_names_uniprotkb": "Receptor expression-enhancing protein 2", "protein_names_refseq": "receptor expression-enhancing protein 2 isoform 1; receptor expression-enhancing protein 2", "tax_id": 9606, "disease": "hereditary spastic paraplegia 72B (Disease Ontology:DOID:0070642); hereditary spastic paraplegia 31 (Disease Ontology:DOID:0110782); hereditary spastic paraplegia 72A (Disease Ontology:DOID:0110817)", "pathway": " (hsa:51308)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11161817;11237011;15550249;16720576;20943918;24388663;24715725;30833945;31848261;32157095;32350084;33526816;33968037;34171305", "class_list": "", "function": "A Nepalese family with an REEP2 mutation: clinical and genetic study., [RefSeq, PubMed]; In mouse, Reep2 enhances sweet receptor function by a different mechanism than Reep1 uses to enhance olfactory receptor function., [RefSeq, PubMed]; Required for endoplasmic reticulum (ER) network formation, shaping and remodeling. May enhance the cell surface expression of odorant receptors (By similarity)., [UniProtKB, PubMed]; This gene encodes a member of the receptor expression enhancing protein family. Studies of a related gene in mouse suggest that the encoded protein is found in the cell membrane and enhances the function of sweet taste receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]., [RefSeq]; We have identified mutations in REEP2 in two families with relatively pure, early-onset hereditary spastic paraplegia, one with autosomal-dominant and the other with autosomal-recessive transmission., [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": 2, "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": "Q53EM8;Q9NYF2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0031883 taste receptor binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005881 cytoplasmic microtubule;GO:0071782 endoplasmic reticulum tubular network", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9BRK0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q33E94-1", "uniprot_id": [ { "id": "RFX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q33E94", "type": "external" } ], "mass": 83368.0, "length": 735, "protein_name": "Transcription factor RFX4", "gene_name": "RFX4", "organism": "Human", "refseq_name": "transcription factor RFX4 isoform d", "refseq_ac": [ { "id": "NP_001193620", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193620", "type": "external" } ], "gene_names_uniprotkb": "RFX4", "gene_names_refseq": "NYD-SP10; RFX4", "protein_names_uniprotkb": "Transcription factor RFX4; Regulatory factor X 4; Testis development protein NYD-SP10", "protein_names_refseq": "regulatory factor X, 4 (influences HLA class II expression); testis development protein NYD-SP10; transcription factor RFX4 isoform d; winged-helix transcription factor RFX4", "tax_id": 9606, "disease": "", "pathway": " (hsa:5992)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;11682486;12925582;16193984;16271074;23481700;29242379;29557506;30379171;30541895;30779550;30783092;31154438;31844290;32075484;33837283;34171305;35051231;38386071", "class_list": "", "function": "High expression of RFX4 is associated with tumor progression and poor prognosis in patients with glioblastoma., [RefSeq, PubMed]; RFX4 is an intrinsic factor for neuronal differentiation through induction of proneural genes POU3F2 and NEUROD1. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the regulatory factor X gene family, which encodes transcription factors that contain a highly-conserved winged helix DNA binding domain. The protein encoded by this gene is structurally related to regulatory factors X1, X2, X3, and X5. It has been shown to interact with itself as well as with regulatory factors X2 and X3, but it does not interact with regulatory factor X1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]., [RefSeq]; Transcription factor that plays a role in early brain development. May activate transcription by interacting directly with the X-box. May activate transcription from CX3CL1 promoter through the X-box during brain development. May be required for neural tube ciliogenesis during embryogenesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "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": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K5Y0;B2RDW4;Q33DW6;Q33DW7;Q33E95;Q6YM53;Q8MHQ1;Q8NC78;Q8NDF9;Q8SNA1;Q96S80;Q9BXI0", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0003677 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:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q33E94-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE09-1", "uniprot_id": [ { "id": "RGS22_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE09", "type": "external" } ], "mass": 147163.0, "length": 1264, "protein_name": "Regulator of G protein signaling 22", "gene_name": "RGS22", "organism": "Human", "refseq_name": "regulator of G-protein signaling 22 isoform 2", "refseq_ac": [ { "id": "NP_001273621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273621", "type": "external" } ], "gene_names_uniprotkb": "RGS22", "gene_names_refseq": "CT145; PRTD-NY2; RGS22", "protein_names_uniprotkb": "Regulator of G protein signaling 22; RGS22", "protein_names_refseq": "regulator of G-protein signaling 22 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26166); (R-HSA-418594)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11007482;11237011;12120503;15951850;16634148;16923326;18434541;18577758;18703424;20627871;21533872;24403052;2534964;26323264;2748346;2834384;29038925;31154438;32157095;32983136;34087483;35051231;36010968;36284347;7937899;8015379;8406495", "class_list": "", "function": "Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form., [UniProtKB, UniProtKB, UniProtKB]; New basal cell carcinoma susceptibility loci were identified at TGM3 (rs214782) and RGS22(rs7006527)., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Over-expression of RGS22 in a highly metastatic esophageal cancer cell line causes decrease in cell migration and reduction in the invasive potential of the cells., [RefSeq, PubMed]; RGS22 acts as a tumor suppressor, repressing human pancreatic adenocarcinoma cell migration by coupling to GNA12/13., [RefSeq, PubMed]; RGS22 may also play a role in GNA13 translocation from the cytoplasm to the nucleus during spermiogenesis, [RefSeq, PubMed]; Regulator of G-protein signaling 22 (RGS22) was identified as a direct target of miR-1260b and was inhibited by miR-1260b. Knockdown of RGS22 increased proliferation of hepatocellular carcinoma 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": 0, "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": "A8K944;Q569L2;Q86Y71;Q9BYZ4;Q9UFN6", "ec_number_list": [], "go_molecular_function": "GO:0001965 G-protein alpha-subunit binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001650 fibrillar center", "go_biological_process": "GO:0009968 negative regulation of signal transduction;GO:0009966 regulation of signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q8NE09-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75533-1", "uniprot_id": [ { "id": "SF3B1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75533", "type": "external" } ], "mass": 145830.0, "length": 1304, "protein_name": "Splicing factor 3B subunit 1", "gene_name": "SF3B1", "organism": "Human", "refseq_name": "splicing factor 3B subunit 1 isoform 1", "refseq_ac": [ { "id": "NP_036565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036565", "type": "external" } ], "gene_names_uniprotkb": "SF3B1; SAP155", "gene_names_refseq": "Hsh155; MDS; PRP10; PRPF10; SAP155; SF3B1; SF3b155", "protein_names_uniprotkb": "Splicing factor 3B subunit 1; Pre-mRNA-splicing factor SF3b 155 kDa subunit; SAP 155; SF3b155; Spliceosome-associated protein 155", "protein_names_refseq": "pre-mRNA processing 10; pre-mRNA splicing factor SF3b, 155 kDa subunit; spliceosome-associated protein 155; splicing factor 3B subunit 1 isoform 1; splicing factor 3b, subunit 1, 155kDa", "tax_id": 9606, "disease": "myelodysplastic syndrome (Disease Ontology:DOID:0050908); uterine corpus endometrial carcinoma (Disease Ontology:DOID:0050939); bladder urothelial carcinoma (Disease Ontology:DOID:4006); hepatocellular carcinoma (Disease Ontology:DOID:684); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:23451); (R-HSA-5250924); (R-HSA-72163); (R-HSA-72165); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 7, "publication_count": 319, "publication_id_list": "10199952;10207048;10669729;10882114;11014198;11060040;11101529;11233976;11237011;11333026;11607023;11747608;11991638;12105215;12176931;12234937;12411573;12414731;12477934;12682017;12738865;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15146077;15302935;15558034;15565158;15647753;16263726;16314458;16372014;16432215;16512921;16514417;16603771;16809785;16964243;17081983;17095540;17128255;17332742;17433364;17589525;17606899;17697703;17717186;17924679;17940139;18042460;18212344;18220336;18288197;18322460;18452278;18593880;18669648;18691976;18707149;19052544;19103666;19165350;19217410;19413330;19415658;19536130;19608861;19651622;19664994;19664995;19690332;20068230;20068231;20211137;20423332;20695905;20980672;21062891;21295486;21406692;21536652;21553260;21559432;21700224;2176635;21911577;22046413;22110043;22365833;22569126;22813749;22898188;22922743;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23395771;23481700;23512658;23555303;23667505;23809146;23874216;24076191;24149845;24196718;24275569;24304693;24366607;24448447;24714562;24715725;24737827;24795046;24901984;24914973;24952918;24958902;25114211;25218447;2524422;25301780;25301781;25505266;25555158;25576301;2558966;25645385;25755297;25810538;25880248;25892735;26092250;26154972;26192590;26375851;26385511;26420826;26728094;26758079;26811146;26824387;26969736;26992070;27108190;27377154;27397612;27459055;27510544;27600516;27661449;27683217;27720643;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28395441;28502770;28510447;28514659;28541300;28649982;28781166;28832583;28834231;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29393594;29437277;29493099;29508533;29557506;29624176;29632046;29632711;2963332;29769354;29786170;29902443;30139799;30257008;30315122;30315277;30397120;30410026;30429286;30444036;30484775;30524438;30567737;30599162;30620550;30705154;30728453;30765414;30779550;30833945;30975767;31092671;31217245;31222486;31373491;31409651;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32522876;32816001;32897882;32938616;32983136;33123756;33141586;33177556;33214551;33243851;33298915;33392160;33446560;33509932;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34023904;34078123;34087483;34171305;34185709;34211107;34301950;34357683;34365507;34405274;34509645;34561969;34725712;34822310;34932366;35051231;35083852;35154160;35177536;35215846;35251023;35254053;35318648;35385551;35561310;35580925;36010968;36104565;36215666;36241641;36284347;36797247;37217939;3757028;37938771;38059508;38665916;39127833;39261602;40596516;40914422;8566756;8608946;8835860;9016565;9242493;9512519;9524131;9539711;9585501;9659921;9671485;9701291;9731529", "class_list": "", "function": "Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310, PubMed:36104565). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:32494006, PubMed:34822310, PubMed:36104565). Within the 17S U2 SnRNP complex, SF3B1 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937, PubMed:36104565). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). May also be involved in the assembly of the 'E' complex (PubMed:10882114). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932). Together with other U2 snRNP complex components may also play a role in the selective processing of microRNAs (miRNAs) from the long primary miRNA transcript, pri-miR-17-92 (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia., [RefSeq, PubMed]; The splicing factor SF3B1 confers ferroptosis resistance and promotes lung adenocarcinoma progression via upregulation of SLC7A11., [RefSeq, PubMed]; This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. The carboxy-terminal two-thirds of subunit 1 have 22 non-identical, tandem HEAT repeats that form rod-like, helical structures. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": 56, "reported_mutagensis": 21, "reported_glycation": 0, "reported_snv": 106, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "E9PCH3", "ec_number_list": [], "go_molecular_function": "GO:0036002 pre-mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:1990935 splicing factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016607 nuclear speck;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006338 chromatin remodeling;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0008380 RNA splicing;GO:0045945 positive regulation of transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 32.5, "record_id": "O75533-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVN7-1", "uniprot_id": [ { "id": "SEML_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVN7", "type": "external" } ], "mass": 14085.0, "length": 128, "protein_name": "Putative protein SEM1, isoform 2", "gene_name": "SEM1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SEM1; C7orf76; DSS1; SHFDG1; SHFM1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein SEM1, isoform 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:7979); (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-5685942); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579); (R-HSA-5693616); (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-9701192); (R-HSA-9704331); (R-HSA-9704646); (R-HSA-9709275); (R-HSA-9709570); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9763198); (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": 80, "publication_count": 1040, "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 (PubMed:15117943). Component of the TREX-2 complex (transcription and export complex 2), composed of at least ENY2, GANP, PCID2, SEM1, and either centrin CETN2 or CETN3 (PubMed:22307388). The TREX-2 complex functions in docking export-competent ribonucleoprotein particles (mRNPs) to the nuclear entrance of the nuclear pore complex (nuclear basket). TREX-2 participates in mRNA export and accurate chromatin positioning in the nucleus by tethering genes to the nuclear periphery. Binds and stabilizes BRCA2 and is thus involved in the control of R-loop-associated DNA damage and thus transcription-associated genomic instability. R-loop accumulation increases in SEM1-depleted cells., [UniProtKB, PubMed, PubMed, PubMed, PubMed, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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:0043130 ubiquitin binding", "go_cellular_component": "GO:0000502 proteasome complex;GO:0005634 nucleus;GO:0008541 proteasome regulatory particle, lid subcomplex;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000724 double-strand break repair via homologous recombination;GO:0006406 mRNA export from nucleus;GO:0043248 proteasome assembly;GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 104.1, "record_id": "Q6ZVN7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JTH9-1", "uniprot_id": [ { "id": "RRP12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JTH9", "type": "external" } ], "mass": 143702.0, "length": 1297, "protein_name": "RRP12-like protein", "gene_name": "RRP12", "organism": "Human", "refseq_name": "RRP12-like protein isoform 2", "refseq_ac": [ { "id": "NP_001138586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138586", "type": "external" } ], "gene_names_uniprotkb": "RRP12; KIAA0690", "gene_names_refseq": "IBGC11; KIAA0690; RRP12", "protein_names_uniprotkb": "RRP12-like protein", "protein_names_refseq": "RRP12-like protein isoform 2; RRP12-like protein", "tax_id": 9606, "disease": "basal ganglia calcification, idiopathic, 11, autosomal recessive (MONDO:MONDO:0980939)", "pathway": " (hsa:23223)", "pathway_count": 1, "publication_count": 115, "publication_id_list": "11237011;12429849;15302935;16565220;17081983;18077418;18452278;18669648;18691976;18767875;19007248;19413330;19415658;19651622;19664994;19664995;19690332;19691289;20068231;21406692;23186163;23481700;24366607;24714562;24715725;25114211;25418920;25576301;25645385;25802875;26154972;26375851;26499779;26728094;26811146;26929215;26992070;27846572;27862975;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33465208;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34509645;34561969;34932366;35051231;35083852;35251023;35318648;35580925;36010968;36215666;36241641;36321656;37217939;37938771;38253038;38665916;39894887;40596516;41059649", "class_list": "", "function": "Participates in the nucleoplasmic stage of pre-40S ribosomal subunit assembly, functioning as a scaffold for assembly factors and preparing pre-40S particles for export from the nucleus to the cytoplasm., [UniProtKB, PubMed]; This study demonstrated that RRP12 was crucial for cell survival during cytotoxic stress via the repression of p53 stability. Thus, targeting RRP12 may enhance chemotherapeutic effect in cancers, [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": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "B4DK00;E9PCK7;Q5JTH8;Q69YK4;Q96E87;Q9BUH3;Q9Y4C7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005886 plasma membrane;GO:0031965 nuclear membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q5JTH9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUK4-1", "uniprot_id": [ { "id": "REEP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUK4", "type": "external" } ], "mass": 29264.0, "length": 255, "protein_name": "Receptor expression-enhancing protein 3", "gene_name": "REEP3", "organism": "Human", "refseq_name": "receptor expression-enhancing protein 3", "refseq_ac": [ { "id": "NP_001001330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001330", "type": "external" } ], "gene_names_uniprotkb": "REEP3; C10orf74", "gene_names_refseq": "C10orf74; REEP3; Yip2b", "protein_names_uniprotkb": "Receptor expression-enhancing protein 3", "protein_names_refseq": "receptor expression-enhancing protein 3", "tax_id": 9606, "disease": "hereditary spastic paraplegia 31 (Disease Ontology:DOID:0110782)", "pathway": " (hsa:221035)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;15550249;16720576;17081983;17290275;18669648;18940312;19651622;20166139;21406692;22424782;23481700;23911198;24714562;25576301;25880248;26154972;26992070;27600516;27846572;27862975;27920218;28228285;28832583;28834231;29242379;29493099;29557506;29769354;29786170;30315122;30410026;30429286;30779550;30995177;31154438;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33179443;33392160;33592498;33633747;33717175;33912179;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38879709", "class_list": "", "function": "CircFAT1 promotes hepatocellular carcinoma progression via miR-30a-5p/REEP3 pathway., [RefSeq, PubMed]; Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; REEP3 is a potential diagnostic and prognostic biomarker correlated with immune infiltration in pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor Expression-Enhancing Proteins (REEP) 3 is one of the six human homologs of yeast Yop1p, a probable regulator of cellular vesicle trafficking between the endoplasmatic reticulum and the Golgi network. Positional candidate gene for autism., [RefSeq, PubMed]; The endoplasmic reticulum (ER) membrane proteins REEP3 and REEP4 as major determinants of ER morphology in metaphase 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": 8, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JQR5;Q5QGT2;Q6PEW8;Q6PJY4", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0005881 cytoplasmic microtubule;GO:0071782 endoplasmic reticulum tubular network;GO:0005874 microtubule", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0051301 cell division;GO:0007084 mitotic nuclear membrane reassembly;GO:0006998 nuclear envelope organization", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q6NUK4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P4A7-1", "uniprot_id": [ { "id": "SFXN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P4A7", "type": "external" } ], "mass": 37998.0, "length": 337, "protein_name": "Sideroflexin-4", "gene_name": "SFXN4", "organism": "Human", "refseq_name": "sideroflexin-4", "refseq_ac": [ { "id": "NP_998814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_998814", "type": "external" } ], "gene_names_uniprotkb": "SFXN4; BCRM1", "gene_names_refseq": "BCRM1; COXPD18; SFXN4; SLC56A4", "protein_names_uniprotkb": "Sideroflexin-4; Breast cancer resistance marker 1", "protein_names_refseq": "breast cancer resistance marker 1; sideroflexin-4", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 18 (Disease Ontology:DOID:0111484)", "pathway": " (hsa:119559); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "11220739;11237011;14756423;16385451;17936786;19608861;19752196;20237496;20406883;20552642;20858599;21924235;22898188;23481700;23553477;24119684;24191001;25678554;26154972;26992070;27499296;27626371;27920218;28228285;28904123;29242379;29769354;30315122;30410026;30442778;31059822;31530632;31666358;31844290;31848261;31866046;31873120;31937595;32157095;32161166;32320651;32357974;32502341;32938616;33141586;33392160;33879611;33882309;33912179;33968037;34087483;34171305;34357683;34561969;35051231;35333655;35614220;36010968;36215666;36241641;37786439;38199007;9571201", "class_list": "", "function": "Comprehensive Analysis of Sideroflexin 4 in Hepatocellular Carcinoma by Bioinformatics and Experiments. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial amino-acid transporter (By similarity). Does not act as a serine transporter: not able to mediate transport of serine into mitochondria (PubMed:30442778)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia., [RefSeq, PubMed]; Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency., [RefSeq, PubMed]; Sideroflexin 4 affects Fe-S cluster biogenesis, iron metabolism, mitochondrial respiration and heme biosynthetic enzymes. Publication Status: Online-Only, [RefSeq, PubMed]; Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module., [RefSeq, PubMed]; This gene encodes a member of the sideroflexin family. The encoded protein is a transmembrane protein of the inner mitochondrial membrane, and is required for mitochondrial respiratory homeostasis and erythropoiesis. Mutations in this gene are associated with mitochondriopathy and macrocytic anemia. Alternatively spliced transcript variants have been found in this gene. [provided by RefSeq, Jan 2014]., [RefSeq]; We isolated a cDNA encoding a novel sideroflexin protein (SFXN4), which showed 59% identity and 71% similarity to mouse sideroflexin4., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6WSU4;Q86TD9", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015075 monoatomic ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006865 amino acid transport;GO:1990542 mitochondrial transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q6P4A7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BS91-1", "uniprot_id": [ { "id": "S35A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BS91", "type": "external" } ], "mass": 48500.0, "length": 424, "protein_name": "UDP-sugar transporter protein SLC35A5", "gene_name": "SLC35A5", "organism": "Human", "refseq_name": "UDP-sugar transporter protein SLC35A5 isoform 1", "refseq_ac": [ { "id": "NP_060415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060415", "type": "external" } ], "gene_names_uniprotkb": "SLC35A5; PRO190", "gene_names_refseq": "SLC35A5", "protein_names_uniprotkb": "UDP-sugar transporter protein SLC35A5; Solute carrier family 35 member A5", "protein_names_refseq": "UDP-sugar transporter protein SLC35A5 isoform 1; probable UDP-sugar transporter protein SLC35A5", "tax_id": 9606, "disease": "", "pathway": " (hsa:55032)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "11237011;12975309;18669648;19664994;23186163;2322548;24190977;24275569;25576301;25645385;25892735;26375851;26992070;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632711;29769354;30315122;30429286;30484775;30641943;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32350084;32938616;33717175;33912179;33968037;33981976;34185709;34357683;35051231;35318648;35580925;36010968;36284347;37217939", "class_list": "glycogene", "function": "Probable UDP-sugar:UMP transmembrane antiporter involved in UDP-alpha-D-glucuronate/UDP-GlcA, UDP-GlcNAc/UDP-N-acetyl-alpha-D-glucosamine and UDP-N-acetyl-alpha-D-galactosamine/UDP-GalNAc transport from the cytosol to the lumen of the Golgi., [UniProtKB, PubMed, PubMed]; Study provide evidence suggesting that SLC35A5 might be the first mammalian nucleotide sugar transport (NST) engaged in the transport of three different UDP-sugars. It contains several diacidic motifs within its cytosolically exposed C-terminus, some of which might be capable of UDP-sugar binding. SLC35A5 protein might be a Golgi-resident multi-protein complex member engaged in NST. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane protein which belongs to subfamily 35A of the solute carrier superfamily. The encoded protein is a nucleoside-sugar transporter. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 518, "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": "D3DN66;Q69YY6;Q6ZMD6;Q9NWM9", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015297 antiporter activity;GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9BS91-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99442-1", "uniprot_id": [ { "id": "SEC62_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99442", "type": "external" } ], "mass": 45862.0, "length": 399, "protein_name": "Translocation protein SEC62", "gene_name": "SEC62", "organism": "Human", "refseq_name": "translocation protein SEC62", "refseq_ac": [ { "id": "NP_003253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003253", "type": "external" } ], "gene_names_uniprotkb": "SEC62; TLOC1", "gene_names_refseq": "Dtrp1; HTP1; SEC62; TLOC1; TP-1", "protein_names_uniprotkb": "Translocation protein SEC62; TP-1; Translocation protein 1; hTP-1", "protein_names_refseq": "SEC62 homolog, preprotein translocation factor; hTP-1; membrane protein SEC62, S.cerevisiae, homolog of; translocation protein 1; translocation protein SEC62", "tax_id": 9606, "disease": "", "pathway": " (hsa:7095)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "10683767;10799540;11237011;16547154;17081983;18318008;18452278;19651622;20068231;21406692;22375059;23186163;24275569;24714562;24715725;25576301;25892735;26154972;26728094;26992070;27600516;27846572;27920218;28228285;28467828;28649982;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29508533;29719251;29769354;29786170;30315122;30410026;30429286;30620550;30779550;31154438;31530632;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32502341;32620754;32897882;32938616;32983136;33109704;33141586;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34171305;34211107;34357683;35051231;35138101;35154160;35165763;35251023;35561310;35580925;36010968;36284347;36581221;36715182;37217939;37298528;38665916;40596516;9020021", "class_list": "", "function": "Mediates post-translational transport of precursor polypeptides across endoplasmic reticulum (ER). Proposed to act as a targeting receptor for small presecretory proteins containing short and apolar signal peptides. Targets and properly positions newly synthesized presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen., [UniProtKB, PubMed, PubMed]; Sec62 promotes gastric cancer metastasis through mediating UPR-induced autophagy activation. Publication Status: Online-Only, [RefSeq, PubMed]; Splicing factor SNRPA associated with microvascular invasion promotes hepatocellular carcinoma metastasis through activating NOTCH1/Snail pathway and is mediated by circSEC62/miR-625-5p axis., [RefSeq, PubMed]; The 3q Oncogene SEC62 Predicts Response to Neoadjuvant Chemotherapy and Regulates Tumor Cell Migration in Triple Negative Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]., [RefSeq]; The gene TLOC1/SEC62 revealed the highest frequency (50%) of copy number gains in the prostate cancer and was found to be up-regulated at the mRNA level., [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": 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": "D3DNQ0;O00682;O00729", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity;GO:0008320 protein transmembrane transporter 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:0006620 post-translational protein targeting to endoplasmic reticulum membrane;GO:0006613 cotranslational protein targeting to membrane;GO:0031204 post-translational protein targeting to membrane, translocation;GO:0061709 reticulophagy;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q99442-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92963-1", "uniprot_id": [ { "id": "RIT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92963", "type": "external" } ], "mass": 25145.0, "length": 219, "protein_name": "GTP-binding protein Rit1", "gene_name": "RIT1", "organism": "Human", "refseq_name": "GTP-binding protein Rit1 isoform 3", "refseq_ac": [ { "id": "NP_001243749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243749", "type": "external" } ], "gene_names_uniprotkb": "RIT1; RIBB; RIT; ROC1", "gene_names_refseq": "NS8; RIBB; RIT1; RIT; ROC1", "protein_names_uniprotkb": "GTP-binding protein Rit1; 3.6.5.2; Ras-like protein expressed in many tissues; Ras-like without CAAX protein 1", "protein_names_refseq": "GTP-binding protein Rit1 isoform 3; GTP-binding protein Rit1; GTP-binding protein Roc1; Ric-like, expressed in many tissues; ras-like protein expressed in many tissues; ras-like without CAAX protein 1", "tax_id": 9606, "disease": "Noonan syndrome 8 (Disease Ontology:DOID:0060586); RASopathy (Disease Ontology:DOID:0080690); Noonan syndrome (Disease Ontology:DOID:3490); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6016); (R-HSA-187706)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10545207;11237011;12668729;15632082;22645359;23791108;24714562;24715725;25418920;25576301;25645385;25892735;25959749;26024233;26768311;26992070;27543614;27862975;27869121;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30779550;31092671;31154438;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33717175;33936100;33968037;34087483;34185709;34357683;34509645;34846918;35051231;35290620;35318648;35475426;35580925;36010968;36215666;36284347;36581221;37938771;38017479;40934300;8824319;8918462", "class_list": "", "function": "Cardiac features of Noonan syndrome in Japanese patients., [RefSeq, PubMed]; Multiomic characterization of oncogenic signaling mediated by wild-type and mutant RIT1., [RefSeq, PubMed]; Plays a crucial role in coupling nerve growth factor (NGF) stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation (PubMed:15632082). Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation (PubMed:23791108). Recognized by LZTR1, which mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300)., [UniProtKB, PubMed, PubMed, PubMed]; RIT1 Promotes Glioma Proliferation and Invasion via the AKT/ERK/NF-kB Signaling Pathway., [RefSeq, PubMed]; RIT1 regulates mitosis and promotes proliferation by interacting with SMC3 and PDS5 in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Rit plays a key role in human neuronal development and regeneration through activating both known and as yet undefined signaling pathways, [RefSeq, PubMed]; This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate 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": 9, "reported_glycation": 0, "reported_snv": 13, "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": "B4DQE8;O00646;O00720;Q5VY89;Q5VY90", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "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.-", "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": "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:0005516 calmodulin binding;GO:0005525 GTP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0007165 signal transduction;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q92963-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5B4-1", "uniprot_id": [ { "id": "RIC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5B4", "type": "external" } ], "mass": 41092.0, "length": 369, "protein_name": "Protein RIC-3", "gene_name": "RIC3", "organism": "Human", "refseq_name": "protein RIC-3 isoform f precursor", "refseq_ac": [ { "id": "NP_001128581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128581", "type": "external" } ], "gene_names_uniprotkb": "RIC3; PRO1385", "gene_names_refseq": "AYST720; PRO1385; RIC-3; RIC3", "protein_names_uniprotkb": "Protein RIC-3; Resistant to inhibitor of cholinesterase 3", "protein_names_refseq": "protein RIC-3 isoform f precursor; protein RIC-3; resistance to inhibitors of cholinesterase 3-like protein; resistant to inhibitor of cholinesterase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:79608)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;12821669;12975309;15504725;15809299;15927954;16120769;16959974;17370265;17609200;17640815;18246096;18691158;19608861;32204458;34171305;34538707;35051231;36602087;38472514", "class_list": "", "function": "Deletion induced splicing in RIC3 drives nicotinic acetylcholine receptor regulation with implications for endoplasmic reticulum stress in human astrocytes., [RefSeq, PubMed]; Molecular chaperone which facilitates proper subunit assembly and surface trafficking of alpha-7 (CHRNA7) and alpha-8 (CHRNA8) nicotinic acetylcholine receptors (PubMed:12821669, PubMed:15504725, PubMed:16120769, PubMed:18691158, PubMed:32204458). May also promote functional expression of homomeric serotoninergic 5-HT3 receptors, and of heteromeric acetylcholine receptors alpha-3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RIC-3 may play a role in 5-HT(3A) receptor folding, assembly, or transport to the cell surface, [RefSeq, PubMed]; RIC3 variants are not associated with Parkinson's disease in large European, Latin American, or East Asian cohorts., [RefSeq, PubMed]; Ric-3 appears to be necessary for proper folding and/or assembly of alpha7 receptors in HEK293 cells, [RefSeq, PubMed]; The RIC-3e protein is functionally active and enables surface expression of mature alpha7-nAChRs in cell lines not otherwise permissive for the expression of this receptor., [RefSeq, PubMed]; The hric3 locus encodes for multiple transcripts, is likely to produce multiple hric3 isoforms, and hric3 is expressed in neurons and muscles, thus enabling its interactions with nicotinic acetylcholine receptors in vivo, [RefSeq, PubMed]; This gene encodes a member of the resistance to inhibitors of cholinesterase 3-like family which functions as a chaperone of specific 5-hydroxytryptamine type 3 receptor and nicotinic acetylcholine receptor subtypes. The encoded protein influences the folding and assembly of these receptor subunits in the endoplasmic reticulum and expression on the cell surface. This protein contains an N-terminal transmembrane domain, a proline-rich spacer, and a cytosolic C-terminal coiled-coil domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]., [RefSeq]; This review provides a brief history of RIC-3--REVIEW Review article, [RefSeq, PubMed]; Unraveling the molecular interactions between alpha7 nicotinic receptor and a RIC3 variant associated with backward speech. 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": 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": "B0B1U0;B2RD25;D3DQU5;Q6UX78;Q7Z5B3;Q86T94;Q8TBJ9;Q9HAH8", "ec_number_list": [], "go_molecular_function": "GO:0033130 acetylcholine receptor binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0043025 neuronal cell body;GO:0045202 synapse;GO:0005789 endoplasmic reticulum membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0007271 synaptic transmission, cholinergic;GO:2000010 positive regulation of protein localization to cell surface;GO:0034394 protein localization to cell surface", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q7Z5B4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P5R6-1", "uniprot_id": [ { "id": "RL22L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P5R6", "type": "external" } ], "mass": 14607.0, "length": 122, "protein_name": "Ribosomal protein eL22-like", "gene_name": "RPL22L1", "organism": "Human", "refseq_name": "ribosomal protein eL22-like isoform 1", "refseq_ac": [ { "id": "NP_001093115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093115", "type": "external" } ], "gene_names_uniprotkb": "RPL22L1", "gene_names_refseq": "RPL22L1", "protein_names_uniprotkb": "Ribosomal protein eL22-like; 60S ribosomal protein L22-like 1; Large ribosomal subunit protein eL22-like 1", "protein_names_refseq": "60S ribosomal protein L22-like 1; large ribosomal subunit protein eL22-like 1; ribosomal protein eL22-like isoform 1; ribosomal protein eL22-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:200916); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 222, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19690332;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21406692;21419344;22072790;22190735;22195017;22916032;23085078;23217742;23234702;23269699;23439679;23482395;23685075;23746841;2388630;24424021;24550520;24616531;24714562;25132172;25242263;25525153;25578875;25880248;25969445;26237581;26992070;27526673;27846572;28065601;28132843;28685749;28904123;29413899;29437277;29493099;29557506;29632312;30244831;30293783;30315122;30379171;30804176;31011209;31217245;31364055;31581233;31844290;32099016;32157095;32350084;32357974;32502341;32579943;32897882;32938616;32983136;33123756;33406423;33537174;33592498;33633747;33691108;33717175;33909987;33936100;33968037;33981976;34087483;34171305;34185709;34229054;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36302773;36625246;37676773;37938771;38665916;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8890909;9211906;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "RPL22L1 might be a prognostic marker in colorectal cancer and predict 5-Fluorouracil responsiveness. Publication Status: Online-Only, [RefSeq, PubMed]; Ribosomal protein L22-like1 promotes prostate cancer progression by activating PI3K/Akt/mTOR signalling 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": 3, "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": "Q32Q77", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0002181 cytoplasmic translation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 22.5, "record_id": "Q6P5R6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FB5-1", "uniprot_id": [ { "id": "MT25B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FB5", "type": "external" } ], "mass": 52981.0, "length": 475, "protein_name": "Methyltransferase-like protein 25B", "gene_name": "METTL25B", "organism": "Human", "refseq_name": "methyltransferase-like protein 25B isoform 2", "refseq_ac": [ { "id": "NP_001136032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136032", "type": "external" } ], "gene_names_uniprotkb": "METTL25B; C1orf66; CGI-41; RRNAD1", "gene_names_refseq": "C1orf66; CGI-41; METTL25B; RRNAD1", "protein_names_uniprotkb": "Methyltransferase-like protein 25B; Protein RRNAD1; Ribosomal RNA adenine dimethylase domain-containing protein 1", "protein_names_refseq": "methyltransferase-like protein 25B isoform 2; methyltransferase-like protein 25B; protein RRNAD1; ribosomal RNA adenine dimethylase domain containing 1; ribosomal RNA adenine dimethylase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51093)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19204726;22424782;23481700;24714562;25418920;25645385;25892735;26154972;26728094;26758079;26929215;26992070;27846572;27920218;28218747;28228285;28649982;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;30315122;30429286;31844290;32157095;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33392160;33936100;33968037;33981976;34171305;34211107;34357683;34509645;35051231;36241641", "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": 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": 13, "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": "D3DVC7;Q4VX71;Q5SZ03;Q9Y358", "ec_number_list": [], "go_molecular_function": "GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q96FB5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCE0-1", "uniprot_id": [ { "id": "SEN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCE0", "type": "external" } ], "mass": 53247.0, "length": 465, "protein_name": "tRNA-splicing endonuclease subunit Sen2", "gene_name": "TSEN2", "organism": "Human", "refseq_name": "tRNA-splicing endonuclease subunit Sen2 isoform 1", "refseq_ac": [ { "id": "NP_001138864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138864", "type": "external" } ], "gene_names_uniprotkb": "TSEN2; SEN2", "gene_names_refseq": "PCH2B; SEN2L; SEN2; TSEN2", "protein_names_uniprotkb": "tRNA-splicing endonuclease subunit Sen2; 4.6.1.16; HsSen2; tRNA-intron endonuclease Sen2", "protein_names_refseq": "TSEN2 tRNA splicing endonuclease subunit; hsSen2; tRNA-intron endonuclease Sen2; tRNA-splicing endonuclease subunit Sen2 isoform 1; tRNA-splicing endonuclease subunit Sen2", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 2B (Disease Ontology:DOID:0060268)", "pathway": " (hsa:80746); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10444065;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15109492;15317868;15345747;16361254;16710424;17204286;17224653;17525332;18226598;18711368;18809514;18984158;21311021;21450806;21559454;21593607;22944664;23481700;2470644;24714562;24870230;25576301;25640237;25645385;25849199;25892735;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29632046;30315122;30379171;30410026;30429286;30524438;31154438;31844290;32157095;32387766;32938616;33141586;33592498;33912179;33968037;34509645;34932366;34964109;35051231;35580925;36241641;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome., [RefSeq, PubMed]; Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed]; This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z6K1;C9IZI7;G5E9Q3;Q8WTW7;Q9BPU7", "ec_number_list": [ { "id": "4.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.16", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" } ], "go_molecular_function": "GO:0003676 nucleic acid binding;GO:0000213 tRNA-intron lyase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0000214 tRNA-intron endonuclease complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0008033 tRNA processing;GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation;GO:0000379 tRNA-type intron splice site recognition and cleavage", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q8NCE0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49908-1", "uniprot_id": [ { "id": "SEPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49908", "type": "external" } ], "mass": 43174.0, "length": 381, "protein_name": "Selenoprotein P", "gene_name": "SELENOP", "organism": "Human", "refseq_name": "selenoprotein P isoform 1 precursor", "refseq_ac": [ { "id": "NP_001078955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078955", "type": "external" } ], "gene_names_uniprotkb": "SELENOP; SELP; SEPP1", "gene_names_refseq": "SELENOP; SELP; SEPP1; SEPP; SeP", "protein_names_uniprotkb": "Selenoprotein P; SeP", "protein_names_refseq": "selenoprotein P isoform 1 precursor; selenoprotein P, plasma, 1", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal carcinoma (Disease Ontology:DOID:0080199); systemic scleroderma (Disease Ontology:DOID:418)", "pathway": " (hsa:6414); (R-HSA-114608)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10.1101/2023.09.13.557529;10775431;11237011;1435334;14630798;15297306;16335952;18702456;19139490;19159218;19824718;23640497;24275569;26598643;27645994;27862975;27881738;29069514;29391424;29557506;29671580;29741879;29789417;30459171;31154438;32125861;32708526;35051231;35154160;35580925;37074911;37340703;37423559;37495908;37938771;38182643;38198038;38665916;40930100;6457647;7931697;8142465;8421687;8467233;9735174", "class_list": "", "function": "Might be responsible for some of the extracellular antioxidant defense properties of selenium or might be involved in the transport of selenium. May supply selenium to tissues such as brain and testis., [UniProtKB]; Results indicate a diversity of RNA elements conducting multiple occurrences of UGA redefinition to control the synthesis of full-length and truncated selenoprotein P (SELENOP) isoforms., [RefSeq, PubMed]; Selenoprotein P deficiency is associated with higher risk of incident heart failure., [RefSeq, PubMed]; Selenoprotein P expression in glioblastoma as a regulator of ferroptosis sensitivity: preservation of GPX4 via the cycling-selenium storage. Publication Status: Online-Only, [RefSeq, PubMed]; Selenoprotein P, peroxiredoxin-5, renalase, and total antioxidant status in patients with suspected obstructive sleep apnea., [RefSeq, PubMed]; Strong associations of serum selenoprotein P with all-cause mortality and mortality due to cancer, cardiovascular, respiratory and gastrointestinal diseases in older German adults., [RefSeq, PubMed]; Study suggests the 3' UTR structural elements (SECIS) in Sepp1 functions with site specificity and further illustrates how mRNA processing may produce transcripts with altered coding potential to produce diversity in selenoprotein isoforms., [RefSeq, PubMed]; This gene encodes a selenoprotein that is predominantly expressed in the liver and secreted into the plasma. This selenoprotein is unique in that it contains multiple selenocysteine (Sec) residues per polypeptide (10 in human), and accounts for most of the selenium in plasma. It has been implicated as an extracellular antioxidant, and in the transport of selenium to extra-hepatic tissues via apolipoprotein E receptor-2 (apoER2). Mice lacking this gene exhibit neurological dysfunction, suggesting its importance in normal brain function. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The mRNA for this selenoprotein contains two SECIS elements. The use of alternative polyadenylation sites, one located in between the two SECIS elements, results in two populations of mRNAs containing either both (predominant) or just the upstream SECIS element (PMID:27881738). Alternatively spliced transcript variants have also been found for this gene. [provided by RefSeq, Oct 2018]., [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": 4, "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": 4, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "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": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 53, "disease_count": 3, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "Q6PD59;Q6PI43;Q6PI87;Q6PJF9", "ec_number_list": [], "go_molecular_function": "GO:0008430 selenium binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0070062 extracellular exosome;GO:0031089 platelet dense granule lumen", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0010269 response to selenium ion", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P49908-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJI8-1", "uniprot_id": [ { "id": "SAA1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJI8", "type": "external" } ], "mass": 13546.0, "length": 122, "protein_name": "Serum amyloid A-1 protein", "gene_name": "SAA1", "organism": "Human", "refseq_name": "serum amyloid A-1 protein preproprotein", "refseq_ac": [ { "id": "NP_001171477", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171477", "type": "external" } ], "gene_names_uniprotkb": "SAA1", "gene_names_refseq": "PIG4; SAA1; SAA; TP53I4", "protein_names_uniprotkb": "Serum amyloid A-1 protein; Amyloid fibril protein AA; SAA", "protein_names_refseq": "serum amyloid A protein; serum amyloid A-1 protein preproprotein; serum amyloid A-1 protein; tumor protein p53 inducible protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6288); (R-HSA-3000471); (R-HSA-416476); (R-HSA-418594); (R-HSA-444473); (R-HSA-445989); (R-HSA-6785807); (R-HSA-879415); (R-HSA-933542); (R-HSA-977225)", "pathway_count": 10, "publication_count": 273, "publication_id_list": "10023775;10097139;10103054;10191087;10211414;10219247;10319874;10369418;10391242;10411933;10510379;10531386;10567430;10583407;10586089;10723127;10727532;10734051;10772654;10861009;10867011;10938017;10956649;11007482;11015615;11058569;11084045;11104795;11120780;11237011;11278437;11278729;11278841;11356008;11401442;11404481;11463377;11467836;11590439;11742120;11753430;11861652;118839;11946204;11960372;11988484;12105195;12120503;12138091;12221085;12223527;12242343;12454989;12470955;1259755;12600988;12606051;12651854;1270801;12832402;12935895;12947091;12973732;1374236;14506261;14567678;14634100;1463770;14712222;14726519;15064394;15116091;15145317;15261459;1546977;15576377;15584925;15690042;15805299;15866482;15869882;15950906;15951850;15962837;16007214;16030018;16048438;16056267;16107692;16174740;16182515;16205632;16211233;16236134;16268778;16276419;16339447;16368683;16397018;16451196;16488891;16510571;1651976;16540365;1656519;16606674;16634148;16754659;16799559;16923326;17047224;17101731;17425515;17427945;17458857;17572495;17710648;17728323;17876058;18065497;18070888;18243101;18353781;1837051;18434541;18447642;18449172;18458151;18462684;18484335;1849145;18515384;18558917;18577758;18644974;18936096;19011241;1905813;19124156;19185846;19237602;19397496;19470939;19536090;19658395;19666475;1971508;19740737;19828817;20493732;20502455;20676056;20807650;21102457;2118650;21252155;2161213;21689689;21730069;21937440;2195544;21994466;22046235;22065755;22131221;22205702;22383755;22693070;22851691;23086340;23124025;23172665;23455323;23555662;23813966;23967200;2409350;24097101;24583716;24706838;24743777;24833601;24893886;25234944;2534964;25523424;26018760;26417681;26668317;26686862;26807092;2748346;27701768;27790215;279930;2834384;2841328;2900981;3035556;3053705;3080684;3086311;3094007;3142462;31819008;3183061;32277967;32475810;33735714;3442653;34525359;3675579;37938771;38214332;38289016;3839415;39117048;4816450;5055786;5056669;6155694;7115671;7510216;7512451;7529288;7536797;7685021;7688729;7795521;7796300;7898939;7907877;7937899;8015379;8033412;8085155;8097946;8114934;8159701;8406495;8464497;8490014;8512321;8529130;8602263;8621622;8663118;8664309;8668165;8670280;8783012;8797861;8816495;8870004;9006323;9008162;9013879;9054935;9148942;9211901;9254056;9305846;9409200;9651359;9689078;9723655;9736340;9770463;9822675;9834113;9862427;9865693;9874564", "class_list": "", "function": "Key charged residues influence the amyloidogenic propensity of the helix-1 region of serum amyloid A., [RefSeq, PubMed]; Major acute phase protein., [UniProtKB]; Major acute phase reactant. Apolipoprotein of the HDL complex., [UniProtKB, UniProtKB]; SAA1 displays antimicrobial activity against S. aureus and E. coli., [RefSeq, PubMed]; SAA1-dependent reprogramming of adipocytes by tumor cells is associated with triple negative breast cancer aggressiveness., [RefSeq, PubMed]; Serum amyloid A facilitates expansion of CD4[+] T cell and CD19[+] B cell subsets implicated in the severity of myasthenia gravis patients., [RefSeq, PubMed]; This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. Alternate splicing results in multiple transcript variants that encode the same protein. A pseudogene of this gene is found on chromosome 11. [provided by RefSeq, Jul 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "risk; prognostic; monitoring", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E9PQD6;P02735;P02736;P02737;Q16730;Q16834;Q16835;Q16879;Q3KRB3;Q6FG67;Q96QN0;Q9UCK9;Q9UCL0", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0034364 high-density lipoprotein particle;GO:0070062 extracellular exosome;GO:0071682 endocytic vesicle lumen;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0045785 positive regulation of cell adhesion;GO:0006953 acute-phase response;GO:0050728 negative regulation of inflammatory response;GO:0048247 lymphocyte chemotaxis", "synthesized_glycan_count": 0, "hit_score": 27.4, "record_id": "P0DJI8-1", "record_type": "protein", "filter_code": "0101100.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSV6-1", "uniprot_id": [ { "id": "SEN34_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSV6", "type": "external" } ], "mass": 33652.0, "length": 310, "protein_name": "tRNA-splicing endonuclease subunit Sen34", "gene_name": "TSEN34", "organism": "Human", "refseq_name": "tRNA-splicing endonuclease subunit Sen34 isoform 1", "refseq_ac": [ { "id": "NP_001070914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070914", "type": "external" } ], "gene_names_uniprotkb": "TSEN34; LENG5; SEN34", "gene_names_refseq": "LENG5; PCH2C; SEN34L; SEN34; TSEN34", "protein_names_uniprotkb": "tRNA-splicing endonuclease subunit Sen34; 4.6.1.16; HsSen34; Leukocyte receptor cluster member 5; tRNA-intron endonuclease Sen34", "protein_names_refseq": "CTD-3093M3.1; TSEN34 tRNA splicing endonuclease subunit; leukocyte receptor cluster (LRC) member 5; leukocyte receptor cluster member 5; tRNA-intron endonuclease Sen34; tRNA-splicing endonuclease subunit Sen34 isoform 1; tRNA-splicing endonuclease subunit Sen34", "tax_id": 9606, "disease": "pontocerebellar hypoplasia type 2C (Disease Ontology:DOID:0060269)", "pathway": " (hsa:79042); (R-HSA-6784531)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10444065;10941842;11237011;11455963;11727826;11871657;12138183;12526808;12711671;12729736;15109492;15317868;16361254;16710424;17204286;17224653;18226598;18711368;18809514;18984158;19413330;20112406;21311021;21450806;21559454;21593607;22944664;23481700;24366607;2470644;24715725;24870230;25418920;25469497;25576301;25640237;25645385;25849199;26154972;26992070;27397612;27600516;27846572;27920218;28063628;28228285;28510447;28832583;28834231;28860189;28904123;29093164;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30484775;30779550;30833945;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34433824;34932366;35051231;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36581221;37938771;6930639;7759547;7828588;9512417;9660920", "class_list": "", "function": "Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[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": 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": "A6NNB1;B0V3J1;Q9BVT1;Q9H6H5", "ec_number_list": [ { "id": "4.6.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.16", "type": "external" }, { "id": "2.7.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.78", "type": "external" } ], "go_molecular_function": "GO:0003676 nucleic acid binding;GO:0000213 tRNA-intron lyase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000214 tRNA-intron endonuclease complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0000379 tRNA-type intron splice site recognition and cleavage", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q9BSV6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13433-1", "uniprot_id": [ { "id": "S39A6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13433", "type": "external" } ], "mass": 85047.0, "length": 755, "protein_name": "Zinc transporter ZIP6", "gene_name": "SLC39A6", "organism": "Human", "refseq_name": "zinc transporter ZIP6 isoform 2", "refseq_ac": [ { "id": "NP_001092876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092876", "type": "external" } ], "gene_names_uniprotkb": "SLC39A6; LIV1; ZIP6", "gene_names_refseq": "LIV-1; LIV1; SLC39A6; ZIP6", "protein_names_uniprotkb": "Zinc transporter ZIP6; Estrogen-regulated protein LIV-1; Solute carrier family 39 member 6; ZIP-6; Zrt- and Irt-like protein 6", "protein_names_refseq": "LIV-1 protein, estrogen regulated; ZIP-6; ZRT/IRT-like protein 6; estrogen-regulated protein LIV-1; solute carrier family 39 (metal ion transporter), member 6; solute carrier family 39 (zinc transporter), member 6; zinc transporter 6; zinc transporter ZIP6 isoform 2; zinc transporter ZIP6; zrt- and Irt-like protein 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:25800); (R-HSA-442380)", "pathway_count": 2, "publication_count": 122, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10364181;10610721;10681536;11237011;11301334;11911440;12032886;12068297;12659941;12839489;12960427;14525538;15322118;15340161;15642354;16638970;16804107;17359283;17550612;18003899;18272141;18390834;18669648;19265717;19349973;19413330;19651622;19664994;19755388;21422171;22544926;23090970;23186163;23481700;23584533;23919497;24190977;24715725;25143461;25418920;25502872;25576301;25645385;25813380;25880248;25892735;26154972;26992070;27274087;27600516;27846572;27920218;28218747;28228285;28832583;28834231;28904123;2903103;29242379;29331515;29508533;29557506;29632046;29741879;29769354;29786170;30315122;30410026;30459171;30484775;30524438;30552163;30779550;31154438;31217245;31324691;31530632;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32797246;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34394081;34453638;34509645;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36241641;37074911;37435980;37938771;38345361;38665916;40307207", "class_list": "", "function": "Expression of cell surface zinc transporter LIV1 in triple negative breast cancer is an indicator of poor prognosis and therapy failure., [RefSeq, PubMed]; LIV-1 co-clusters with estrogen receptor alpha in microarray analysis of breast cancer biopsies., [RefSeq, PubMed]; LIV-1 is coregulated with estrogen receptor in some breast cancers., [RefSeq, PubMed]; Oestrogen-regulated protein SLC39A6: a biomarker of good prognosis in luminal breast cancer., [RefSeq, PubMed]; Review of LIV-1 and other LZT proteins. Review article, [RefSeq, PubMed]; Structure-function analysis of LIV-1. GeneRIF: LIV-1, a member of the ZIP family of zinc transporters, is an integral plasma membrane protein that transports zinc into cells., [RefSeq, PubMed]; Suppression of SLC39A6-CREB1 axis in liver cancer causes PCK1-mediated mitochondrial dysfunction., [RefSeq, PubMed]; The ZIP6/ZIP10 heteromer is essential for the zinc-mediated trigger of mitosis., [RefSeq, PubMed]; Zap70 Regulates TCR-Mediated Zip6 Activation at the Immunological Synapse. Publication Status: Online-Only, [RefSeq, PubMed]; Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]., [RefSeq]; Zinc-influx transporter which plays a role in zinc homeostasis and in the induction of epithelial-to-mesenchymal transition (EMT) (PubMed:12839489, PubMed:18272141, PubMed:21422171, PubMed:23919497, PubMed:27274087, PubMed:34394081). When associated with SLC39A10, the heterodimer formed by SLC39A10 and SLC39A6 mediates cellular zinc uptake to trigger cells to undergo epithelial- to-mesenchymal transition (EMT) (PubMed:27274087). The SLC39A10-SLC39A6 heterodimer also controls NCAM1 phosphorylation and its integration into focal adhesion complexes during EMT (By similarity). Zinc influx inactivates GSK3B, enabling unphosphorylated SNAI1 in the nucleus to down-regulate adherence genes such as CDH1, causing loss of cell adherence (PubMed:23919497). In addition, the SLC39A10-SLC39A6 heterodimer plays an essential role in initiating mitosis by importing zinc into cells to initiate a pathway resulting in the onset of mitosis (PubMed:32797246). Participates in the T-cell receptor signaling regulation by mediating cellular zinc uptake into activated lymphocytes (PubMed:21422171, PubMed:30552163, PubMed:34394081). Regulates the zinc influx necessary for proper meiotic progression to metaphase II (MII) that allows the oocyte-to-egg transition (PubMed:25143461)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 19, "disease_count": 0, "glyco_site_count": 24, "binding_glycan_count": 0, "secondary_ac_list": "B4DR49;B4E224;Q8IXR3;Q96HP5", "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:0005385 zinc ion transmembrane transporter activity;GO:0140410 monoatomic cation:bicarbonate symporter activity;GO:0046873 metal ion transmembrane transporter activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0045121 membrane raft;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0046649 lymphocyte activation;GO:0050852 T cell receptor signaling pathway;GO:0001837 epithelial to mesenchymal transition;GO:0006882 intracellular zinc ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q13433-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B86-1", "uniprot_id": [ { "id": "RGMA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B86", "type": "external" } ], "mass": 49361.0, "length": 450, "protein_name": "Repulsive guidance molecule A", "gene_name": "RGMA", "organism": "Human", "refseq_name": "repulsive guidance molecule A isoform 1", "refseq_ac": [ { "id": "NP_001159755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159755", "type": "external" } ], "gene_names_uniprotkb": "RGMA; RGM", "gene_names_refseq": "RGMA; RGM", "protein_names_uniprotkb": "Repulsive guidance molecule A; RGM domain family member A", "protein_names_refseq": "RGM domain family, member A; repulsive guidance molecule A isoform 1; repulsive guidance molecule A; repulsive guidance molecule family member a", "tax_id": 9606, "disease": "sciatic neuropathy (Disease Ontology:DOID:11446); multiple sclerosis (Disease Ontology:DOID:2377); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:56963); (R-HSA-373752)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;12154370;16216939;16762451;17174565;17472960;19273616;19458235;28834231;30459171;31092671;33997000;35028889;38762192;9858595", "class_list": "", "function": "Circular RNA circHIPK2 inhibits colon cancer cells through miR-373-3p/RGMA axis., [RefSeq, PubMed]; Decreased DNA Methylation of RGMA is Associated with Intracranial Hypertension After Severe Traumatic Brain Injury: An Exploratory Epigenome-Wide Association Study., [RefSeq, PubMed]; Following central nervous system injury, RGM, a novel, potent axonal growth inhibitor, is present in axonal growth impediments: the mature myelin, choroid plexus, and components of the developing scar., [RefSeq, PubMed]; Member of the repulsive guidance molecule (RGM) family that performs several functions in the developing and adult nervous system. Regulates cephalic neural tube closure, inhibits neurite outgrowth and cortical neuron branching, and the formation of mature synapses. Binding to its receptor NEO1/neogenin induces activation of RHOA-ROCK1/Rho-kinase signaling pathway through UNC5B-ARHGEF12/LARG-PTK2/FAK1 cascade, leading to collapse of the neuronal growth cone and neurite outgrowth inhibition. Furthermore, RGMA binding to NEO1/neogenin leads to HRAS inactivation by influencing HRAS-PTK2/FAK1-AKT1 pathway. It also functions as a bone morphogenetic protein (BMP) coreceptor that may signal through SMAD1, SMAD5, and SMAD8., [UniProtKB, PubMed, PubMed]; RGMa facilitates the use of ActRIIA by endogenous BMP2 and BMP4 ligands that otherwise prefer signaling via BMPRII and increased utilization of ActRIIA leads to generation of an enhanced BMP signal, [RefSeq, PubMed]; Repulsive Guidance Molecule-a and Central Nervous System Diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the repulsive guidance molecule family. The encoded protein is a glycosylphosphatidylinositol-anchored glycoprotein that functions as an axon guidance protein in the developing and adult central nervous system. This protein may also function as a tumor suppressor in some cancers. Alternate splicing results in multiple transcript variants. [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": 2, "reported_o_glycosites": 1, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RTW1;B7Z5S8;F5GXQ7;F5GZU6;G3V518;Q0JV97;Q8NC80;Q9H0E6;Q9NPM3", "ec_number_list": [], "go_molecular_function": "GO:0015026 coreceptor activity;GO:1990459 transferrin receptor binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0098552 side of membrane", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030509 BMP signaling pathway;GO:0048671 negative regulation of collateral sprouting;GO:0048681 negative regulation of axon regeneration", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q96B86-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56182-1", "uniprot_id": [ { "id": "RRP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P56182", "type": "external" } ], "mass": 52839.0, "length": 461, "protein_name": "Ribosomal RNA processing protein 1 homolog A", "gene_name": "RRP1", "organism": "Human", "refseq_name": "ribosomal RNA processing protein 1 homolog A", "refseq_ac": [ { "id": "NP_003674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003674", "type": "external" } ], "gene_names_uniprotkb": "RRP1; D21S2056E; NNP1; NOP52; RRP1A", "gene_names_refseq": "D21S2056E; NNP-1; NOP52; RRP1A; RRP1", "protein_names_uniprotkb": "Ribosomal RNA processing protein 1 homolog A; NNP-1; Novel nuclear protein 1; Nucleolar protein Nop52; RRP1-like protein", "protein_names_refseq": "Nnp1 homolog, nucleolar protein; RRP1-like protein; novel nuclear protein 1; nucleolar protein Nop52; protein NNP-1; ribosomal RNA processing 1 homolog; ribosomal RNA processing protein 1 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:8568); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10341208;11237011;11922599;12068309;12150911;12209604;12429849;16037817;16043514;16738141;17081983;17189298;17353269;17412707;18065403;18438418;19007248;19106111;19332556;19564402;19691289;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;20926688;21036871;21063389;21097556;21406692;21536856;22072790;22190735;22195017;22916032;23186163;23301498;23439679;23482395;2388630;24275569;24424021;24550520;24715725;25418920;25525153;25969445;26154972;26237581;26797129;26992070;27846572;27920218;28218747;28228285;28832583;28834231;29242379;29393594;29437277;29557506;29632046;30410026;31844290;32265295;32357974;32387766;32488085;32897882;32938616;33912179;33936100;33968037;34357683;34433824;35051231;9192856;9482744", "class_list": "", "function": "NNP-1 expression in neuroblastoma, [RefSeq, PubMed]; P32 is a new rRNA maturation factor involved in the remodeling from pre-90S particles to pre-40S and pre-60S particles that requires the exchange of FBL for Nop52., [RefSeq, PubMed]; Plays a critical role in the generation of 28S rRNA., [UniProtKB, PubMed]; The data suggest that RRP1 is involved not only in competitive binding with fibrillarin to C1QBP on 90S but also in site 2 cleavage in ITS1 of pre-rRNAs at early stages of human ribosome biogenesis., [RefSeq, PubMed]; The protein encoded by this gene is the putative homolog of the yeast ribosomal RNA processing protein RRP1. The encoded protein is involved in the late stages of nucleologenesis at the end of mitosis, and may be required for the generation of 28S rRNA. [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": 8, "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": "Q9NST5", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005694 chromosome;GO:0030688 preribosome, small subunit precursor", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P56182-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAU8-1", "uniprot_id": [ { "id": "RNPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAU8", "type": "external" } ], "mass": 80000.0, "length": 725, "protein_name": "Aminopeptidase RNPEPL1", "gene_name": "RNPEPL1", "organism": "Human", "refseq_name": "aminopeptidase RNPEPL1", "refseq_ac": [ { "id": "NP_060696", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060696", "type": "external" } ], "gene_names_uniprotkb": "RNPEPL1", "gene_names_refseq": "RNPEPL1", "protein_names_uniprotkb": "Aminopeptidase RNPEPL1; 3.4.11.-; 3.4.11.18; Arginyl aminopeptidase-like 1; Methionyl aminopeptidase", "protein_names_refseq": "RNPEP-like 1; aminopeptidase B-like 1; aminopeptidase RNPEPL1; argininyl aminopeptidase-like 1; arginyl aminopeptidase (aminopeptidase B)-like 1; methionyl aminopeptidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:57140)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11017071;11237011;16959974;19508204;22544926;26992070;28228285;28832583;29493099;29557506;30315122;30410026;30429286;30484775;30833945;31154438;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32938616;33141586;33298915;33936100;33968037;34171305;34509645;34561969;34932366;35051231;35580925;36010968;36241641;36545750", "class_list": "", "function": "Broad specificity aminopeptidase which preferentially hydrolyzes an N-terminal methionine, citrulline or glutamine., [UniProtKB, PubMed]; Characterization of the enzymatic properties of human RNPEPL1/aminopeptidase Z. Erratum:[J Biochem. 2023 May 29;173(6):497. doi: 10.1093/jb/mvad027. PMID: 37021591], [RefSeq, PubMed]; RT-PCR analysis of RNPEPL1 expression revealed a ubiquitous tissue distribution, consistent with a general housekeeping function, but also revealed alternative splicing of the mRNA in all tissues examined., [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": "Q5XKC3;Q6NX56;Q96AC9;Q9H033;Q9NVD0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0070006 metalloaminopeptidase activity;GO:0004239 initiator methionyl aminopeptidase activity;GO:0008237 metallopeptidase activity", "go_cellular_component": "", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9HAU8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY26-1", "uniprot_id": [ { "id": "S39A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY26", "type": "external" } ], "mass": 34250.0, "length": 324, "protein_name": "Zinc transporter ZIP1", "gene_name": "SLC39A1", "organism": "Human", "refseq_name": "zinc transporter ZIP1 isoform a", "refseq_ac": [ { "id": "NP_001258886", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258886", "type": "external" } ], "gene_names_uniprotkb": "SLC39A1; CGI-08; CGI-71; IRT1; ZIP1; ZIRTL", "gene_names_refseq": "SLC39A1; ZIP1; ZIRTL", "protein_names_uniprotkb": "Zinc transporter ZIP1; Solute carrier family 39 member 1; ZIP-1; Zinc-iron-regulated transporter-like; Zrt- and Irt-like protein 1; hZIP1", "protein_names_refseq": "ZRT/IRT-like protein 1; solute carrier family 39 (zinc transporter), member 1; solute carrier family 39 (zinc transporter), member 3; zinc transporter 1; zinc transporter ZIP1 isoform a; zrt- and Irt-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:27173); (R-HSA-442380)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10364181;10610721;10681536;11237011;11301334;11696349;12032886;12068297;12839489;12888280;14525538;15322118;15642354;16153295;16303743;16638970;16804107;16844077;17359283;17550612;18003899;18390834;19265717;19755388;23481700;25502872;25645385;28218747;28228285;28467828;28832583;28904123;29242379;29314611;29437277;29769354;29786170;30315122;30581142;31844290;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33592498;33936100;33968037;34171305;34357683;34509645;34615436;35051231;35154160;35251023;36010968;36284347", "class_list": "", "function": "Decreased SLC39A1 (Solute carrier family 39 member 1) expression predicts unfavorable prognosis in patients with early-stage hepatocellular carcinoma., [RefSeq, PubMed]; Mitochondrial membrane potential is reduced focally at a fission site by the Drp1 recruitment, which is initiated by the interaction of Drp1 with mitochondrial zinc transporter Zip1 and Zn(2+) entry through the Zip1-MCU complex. After division, healthy mitochondria restore MMP levels and participate in the fusion-fission cycle again, but mitochondria that fail to restore MMP undergo mitophagy., [RefSeq, PubMed]; This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]., [RefSeq]; Transporter for the divalent cation Zn(2+). Mediates the influx of Zn(2+) into cells from extracellular space (PubMed:11301334, PubMed:12888280, PubMed:16844077). Functions as the major importer of zinc from circulating blood plasma into prostate cells (PubMed:12888280)., [UniProtKB, PubMed, PubMed, PubMed]; Zip1 mechanism of transport appears to involve the transport of zinc from low molecular weight ligands that exist in circulation as relatively loosely bound complexes with zinc, [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": 4, "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": "B4DDY7;Q5T4K1;Q8N2H7;Q9BTV0;Q9UBI7;Q9Y2Z7;Q9Y380", "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:0005385 zinc ion transmembrane transporter activity;GO:0005102 signaling receptor binding;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0006812 monoatomic cation transport", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9NY26-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49798-1", "uniprot_id": [ { "id": "RGS4_HUMAN", "url": "https://www.uniprot.org/uniprot/P49798", "type": "external" } ], "mass": 23256.0, "length": 205, "protein_name": "Regulator of G protein signaling 4", "gene_name": "RGS4", "organism": "Human", "refseq_name": "regulator of G-protein signaling 4 isoform 1", "refseq_ac": [ { "id": "NP_001095915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095915", "type": "external" } ], "gene_names_uniprotkb": "RGS4", "gene_names_refseq": "RGP4; RGS4; SCZD9", "protein_names_uniprotkb": "Regulator of G protein signaling 4; RGP4; RGS4", "protein_names_refseq": "regulator of G-protein signaling 4 isoform 1; schizophrenia disorder 9", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); hypertension (Disease Ontology:DOID:10763); opioid abuse (Disease Ontology:DOID:11206); lesion of sciatic nerve (Disease Ontology:DOID:12528); status epilepticus (Disease Ontology:DOID:1824); epilepsy (Disease Ontology:DOID:1826); bladder disease (Disease Ontology:DOID:365); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:5999); (R-HSA-416476); (R-HSA-418594); (R-HSA-418597)", "pathway_count": 4, "publication_count": 66, "publication_id_list": "10191087;10567430;10608901;10727532;10861009;10954748;11007482;11015615;11237011;11313909;11742120;11753430;12023979;12120503;1347957;14755443;15951850;16182515;16268778;16339447;16634148;16754659;16923326;17707117;18434541;18515384;18577758;18936096;1905813;1939224;24407588;24715725;2534964;27397612;2748346;2834384;2841328;28502923;29557506;3086311;31154438;31844290;31848261;32157095;32517689;32897882;33592498;33968037;34405274;34767639;35580925;35628613;36284347;37047106;37938771;38432633;7559455;7595566;7937899;8015379;8406495;8602223;8664309;9305846;9748280;9770463", "class_list": "", "function": "Cardiac RGS Proteins in Human Heart Failure and Atrial Fibrillation: Focus on RGS4. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(z)-alpha is inhibited by phosphorylation of the G protein. Activity on G(z)-alpha and G(i)-alpha-1 is inhibited by palmitoylation of the G protein., [UniProtKB]; RGS4 controls airway hyperresponsiveness through GAP-independent mechanisms., [RefSeq, PubMed]; Regulator of G protein signaling (RGS) family members are regulatory molecules that act as GTPase activating proteins (GAPs) for G alpha subunits of heterotrimeric G proteins. RGS proteins are able to deactivate G protein subunits of the Gi alpha, Go alpha and Gq alpha subtypes. They drive G proteins into their inactive GDP-bound forms. Regulator of G protein signaling 4 belongs to this family. All RGS proteins share a conserved 120-amino acid sequence termed the RGS domain. Regulator of G protein signaling 4 protein is 37% identical to RGS1 and 97% identical to rat Rgs4. This protein negatively regulate signaling upstream or at the level of the heterotrimeric G protein and is localized in the cytoplasm. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Regulator of G-Protein Signaling-4 Attenuates Cardiac Adverse Remodeling and Neuronal Norepinephrine Release-Promoting Free Fatty Acid Receptor FFAR3 Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of G-Protein Signalling 4 (RGS4) negatively modulates nociceptin/orphanin FQ opioid receptor signalling: Implication for l-Dopa-induced dyskinesia., [RefSeq, PubMed]; Regulators of G-protein signaling, RGS2 and RGS4, inhibit protease-activated receptor 4-mediated signaling by forming a complex with the receptor and Galpha in live 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": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7XA56;A7XA58;A7XA59;A7YVV7;B1APZ3", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005516 calmodulin binding;GO:0019901 protein kinase binding;GO:0001965 G-protein alpha-subunit binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0061052 negative regulation of cell growth involved in cardiac muscle cell development;GO:1901380 negative regulation of potassium ion transmembrane transport;GO:0060160 negative regulation of dopamine receptor signaling pathway;GO:0007186 G protein-coupled receptor signaling pathway;GO:0045471 response to ethanol", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "P49798-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P82650-1", "uniprot_id": [ { "id": "RT22_HUMAN", "url": "https://www.uniprot.org/uniprot/P82650", "type": "external" } ], "mass": 41280.0, "length": 360, "protein_name": "Small ribosomal subunit protein mS22", "gene_name": "MRPS22", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS22 isoform 1", "refseq_ac": [ { "id": "NP_064576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064576", "type": "external" } ], "gene_names_uniprotkb": "MRPS22; C3orf5; GK002; RPMS22", "gene_names_refseq": "C3orf5; COXPD5; GIBT; GK002; MRP-S22; MRPS22; ODG7; RPMS22; mS22", "protein_names_uniprotkb": "Small ribosomal subunit protein mS22; 28S ribosomal protein S22, mitochondrial; MRP-S22; S22mt", "protein_names_refseq": "28S ribosomal protein S22, mitochondrial; S22mt; mitochondrial small ribosomal subunit protein mS22; small ribosomal subunit protein mS22 isoform 1", "tax_id": 9606, "disease": "ovarian dysgenesis 7 (Disease Ontology:DOID:0080499); combined oxidative phosphorylation deficiency 5 (Disease Ontology:DOID:0111473); primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:56945); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 62, "publication_id_list": "10938081;11175783;11237011;15358359;17803939;17873122;18429816;18507432;18782833;19524667;19608861;19716793;20068231;20186120;21907147;22172991;2250005;23186163;23481700;24715725;25233460;25838379;26154972;26375851;26992070;27029019;27600516;27846572;27920218;28228285;28752220;28834231;28892042;29242379;29566152;30192525;30315122;31844290;31848261;32157095;32350084;32488085;32938616;33141586;33243891;33298915;33465208;33691108;33878294;33936100;33968037;34357683;35051231;35251023;35580925;36010968;36302763;36596788;37141370;37217939;40596516;40914422", "class_list": "", "function": "Here we report MRPS22 homozygous missense variants c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in four females from two independent consanguineous families as a novel genetic cause of Primary ovarian insufficiency in adolescents., [RefSeq, PubMed]; Hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22, [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [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": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9H3I1", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P82650-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01118-1", "uniprot_id": [ { "id": "SCN7A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01118", "type": "external" } ], "mass": 193493.0, "length": 1682, "protein_name": "Sodium channel protein type 7 subunit alpha", "gene_name": "SCN7A", "organism": "Human", "refseq_name": "sodium channel protein type 7 subunit alpha", "refseq_ac": [ { "id": "NP_002967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002967", "type": "external" } ], "gene_names_uniprotkb": "SCN7A; SCN6A", "gene_names_refseq": "NaG; Nav2.1; Nav2.2; SCN6A; SCN7A", "protein_names_uniprotkb": "Sodium channel protein type 7 subunit alpha; Atypical sodium channel Nav2.1; Nax channel; Sodium channel protein type VII subunit alpha", "protein_names_refseq": "atypical sodium channel Nav2.1; nax channel; putative voltage-gated sodium channel subunit alpha Nax; sodium channel protein cardiac and skeletal muscle subunit alpha; sodium channel protein type 7 subunit alpha; sodium channel protein type VII subunit alpha; sodium channel, voltage-gated, type VI, alpha polypeptide; sodium channel, voltage-gated, type VII, alpha subunit; voltage-dependent sodium channel alpha subunit", "tax_id": 9606, "disease": "generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); Dravet syndrome (Disease Ontology:DOID:0080422); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); epilepsy (Disease Ontology:DOID:1826); brain infarction (Disease Ontology:DOID:3454)", "pathway": " (hsa:6332); (R-HSA-445095); (R-HSA-5576892)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "11222639;11237011;11290418;1309946;1317577;14500339;15000524;16597699;16904324;17223356;18184654;18452278;19406745;21127204;21566136;21817159;22054663;22514276;23804213;24275569;24715725;25892735;26537257;29393594;29557506;29741879;30779550;31154438;31492838;31844290;31848261;32387766;33091337;33392160;33592498;33912179;34185709;34357683;34993672;35051231;35123417;35301303;8107964", "class_list": "", "function": "Genomic analyses reveal SCN7A is associated with the prognosis of esophageal squamous cell carcinoma., [RefSeq, PubMed]; Identification of SCN7A as the key gene associated with tumor mutation burden in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Sodium leak channel functioning as an osmosensor regulating sodium ion levels in various tissues and organs. While most sodium channels are voltage-gated, SCN7A is not and lets sodium flow through membrane along its concentration gradient (PubMed:26537257, PubMed:35301303). In glial cells of the central nervous system, senses body-fluid sodium levels and controls salt intake behavior as well as voluntary water intake through activation of nearby neurons to maintain appropriate sodium levels in the body (By similarity). By mediating sodium influx into keratinocytes, also plays a role in skin barrier homeostasis (PubMed:26537257)., [UniProtKB, PubMed, UniProtKB, PubMed]; The authors demonstrated that the sodium channel Nax functions as a sodium sensor. With increased extracellular sodium, Nax up-regulates prostasin, which results in activation of the sodium channel ENaC., [RefSeq, PubMed]; This gene encodes one of the many voltage-gated sodium channel proteins. For proper functioning of neurons and muscles during action potentials, voltage-gated sodium channels direct sodium ion diffusion for membrane depolarization. This sodium channel protein has some atypical characteristics; the similarity between the human and mouse proteins is lower compared to other orthologous sodium channel pairs. Also, the S4 segments, which sense voltage changes, have fewer positive charged residues that in other sodium channels; domain 4 has fewer arginine and lysine residues compared to other sodium channel proteins. Several alternatively spliced transcript variants exist, but the full-length natures of all of them remain unknown. [provided by RefSeq, Dec 2011]., [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": 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": 7, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 5, "glyco_site_count": 7, "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:0044325 transmembrane transporter binding;GO:0005272 sodium channel activity;GO:0005248 voltage-gated sodium channel activity;GO:1990760 osmolarity-sensing monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0001518 voltage-gated sodium channel complex;GO:0097386 glial cell projection", "go_biological_process": "GO:0007231 osmosensory signaling pathway;GO:0042391 regulation of membrane potential;GO:0035725 sodium ion transmembrane transport;GO:0055078 sodium ion homeostasis;GO:0086002 cardiac muscle cell action potential involved in contraction", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q01118-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y535-1", "uniprot_id": [ { "id": "RPC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y535", "type": "external" } ], "mass": 22918.0, "length": 204, "protein_name": "DNA-directed RNA polymerase III subunit RPC8", "gene_name": "POLR3H", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC8 isoform a", "refseq_ac": [ { "id": "NP_001018060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018060", "type": "external" } ], "gene_names_uniprotkb": "POLR3H; KIAA1665; RPC8", "gene_names_refseq": "C25; POLR3H; RPC22.9; RPC8", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC8; DNA-directed RNA polymerase III subunit H; RNA polymerase III subunit 22.9 kDa subunit; RNA polymerase III subunit C8; RPC22.9", "protein_names_refseq": "DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide; DNA-directed RNA polymerase III subunit H; DNA-directed RNA polymerase III subunit RPC8 isoform a; DNA-directed RNA polymerase III subunit RPC8; RNA nucleotidyltransferase (DNA-directed); RNA polymerase III subunit C8; polymerase (RNA) III (DNA directed) polypeptide H (22.9kD); polymerase (RNA) III subunit H", "tax_id": 9606, "disease": "primary ovarian insufficiency (Disease Ontology:DOID:5426)", "pathway": " (hsa:171568); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 55, "publication_id_list": "10421633;11056176;11118217;11237011;11258795;11419933;11463379;12381659;12391170;18477386;19158675;19158676;19158679;19246067;1946469;19609254;19631370;20413673;20843307;21398614;23251783;23388631;2404611;25576301;28218747;28832583;29437277;29557506;30315122;30410026;30830215;31217245;31844290;32157095;32357974;32938616;33335104;33558764;33558766;33674783;33981976;34675218;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958", "class_list": "", "function": "A pathogenic homozygous missense mutation (c.149A>G; p.Asp50Gly) in the POLR3H gene in two unrelated families with primary ovarian insufficiency was identified., [RefSeq, PubMed]; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:33558764, PubMed:34675218). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. With CRCP/RPC9 forms a mobile stalk that protrudes from Pol III core and functions primarily in transcription initiation (By similarity) (PubMed:33558764, PubMed:34675218). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; DNA-dependent RNA polymerase which catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates., [UniProtKB, UniProtKB, UniProtKB]; Findings reveal that RNA polymerase III-dependent EBER expression through induction of cellular transcription factors and add to the repertoire of EBNA1's transcription-regulatory properties. Publication Status: Online-Only, [RefSeq, PubMed]; The authors demonstrate the interaction of both RNA polymerase I and III with hepatitis delta virus RNA, both in vitro and in human 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": 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": "B0QYH9;Q5M7Y8;Q96AE3;Q9BY95", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005666 RNA polymerase III complex", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006139 nucleobase-containing compound metabolic process;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9Y535-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EU6-1", "uniprot_id": [ { "id": "RRP36_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EU6", "type": "external" } ], "mass": 29823.0, "length": 259, "protein_name": "Ribosomal RNA processing protein 36 homolog", "gene_name": "RRP36", "organism": "Human", "refseq_name": "ribosomal RNA processing protein 36 homolog isoform 2", "refseq_ac": [ { "id": "NP_001316633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316633", "type": "external" } ], "gene_names_uniprotkb": "RRP36; C6orf153; HSPC253", "gene_names_refseq": "C6orf153; RRP36; dJ20C7.4", "protein_names_uniprotkb": "Ribosomal RNA processing protein 36 homolog", "protein_names_refseq": "RNA processing factor; ribosomal RNA processing 36 homolog; ribosomal RNA processing protein 36 homolog isoform 2; ribosomal RNA processing protein 36 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:88745); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 126, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;15983380;16037817;16043514;16381836;16738141;16782898;17081983;17189298;17353269;17412707;17636026;18065403;18438418;18669648;19007248;19033376;19106111;19332556;19463982;19564402;19651622;19664995;19691289;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21406692;22072790;22190735;22195017;22916032;23186163;23391857;23439679;23482395;2388630;24086612;24424021;24550520;24714562;24715725;25411247;25525153;25576301;25653167;25851604;25892735;25969445;26085946;26196125;26237581;26728094;26992070;27084949;27600516;27846572;27862975;27893789;28063628;28228285;28832583;28904123;29242379;29393594;29493099;29557506;29789417;30315122;30429286;30484775;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33392160;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34509645;34932366;35051231;35561310;35580925;36010968;36215666;36241641;36284347;37938771;9211966;9482744;9512526", "class_list": "", "function": "Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA., [UniProtKB, PubMed]; RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]., [RefSeq]; Studied the orthologue of Rrp36p in HeLa cells, and showed that the function of this protein in early cleavages of the pre-rRNA has been conserved through evolution in eukaryotes, [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": "Q9BRF6;Q9P0C8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0030686 90S preribosome", "go_biological_process": "GO:0006364 rRNA processing;GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q96EU6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVN6-1", "uniprot_id": [ { "id": "SCTM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVN6", "type": "external" } ], "mass": 27039.0, "length": 248, "protein_name": "Secreted and transmembrane protein 1", "gene_name": "SECTM1", "organism": "Human", "refseq_name": "secreted and transmembrane protein 1 precursor", "refseq_ac": [ { "id": "NP_002995", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002995", "type": "external" } ], "gene_names_uniprotkb": "SECTM1; K12", "gene_names_refseq": "K12; SECTM1; SECTM", "protein_names_uniprotkb": "Secreted and transmembrane protein 1; Protein K-12", "protein_names_refseq": "secreted and transmembrane protein 1 precursor; secreted and transmembrane protein 1; type 1a transmembrane protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6398)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10652336;11237011;15742156;19423540;24157461;24211252;29786170;30429286;31844290;32488085;32938616;32983136;33968037;35051231;35580925;36215666;38164182;9480746", "class_list": "", "function": "CD7 is present on monocytes and tumor macrophages and its ligand, SECTM1, is frequently expressed in corresponding melanoma tissues, [RefSeq, PubMed]; May be involved in thymocyte signaling., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SECTM1 promotes the development of glioblastoma and mesenchymal transition by regulating the TGFbeta1/Smad signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; SECTM1 secreted from bone marrow stromal cells may interact with CD7 to influence GM-CSF expression in leukemic cells., [RefSeq, PubMed]; This gene encodes a transmembrane and secreted protein with characteristics of a type 1a transmembrane protein. It is found in a perinuclear Golgi-like pattern and thought to be involved in hematopoietic and/or immune system processes. [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": 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": "B2R7H0;O00466", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006955 immune response;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0002726 positive regulation of T cell cytokine production;GO:0007498 mesoderm development", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8WVN6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08708-1", "uniprot_id": [ { "id": "RS17_HUMAN", "url": "https://www.uniprot.org/uniprot/P08708", "type": "external" } ], "mass": 15550.0, "length": 135, "protein_name": "Small ribosomal subunit protein eS17", "gene_name": "RPS17", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS17", "refseq_ac": [ { "id": "NP_001012", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012", "type": "external" } ], "gene_names_uniprotkb": "RPS17; RPS17L", "gene_names_refseq": "DBA4; RPS17L1; RPS17L2; RPS17L; RPS17; S17; eS17", "protein_names_uniprotkb": "Small ribosomal subunit protein eS17; 40S ribosomal protein S17", "protein_names_refseq": "40S ribosomal protein S17; small ribosomal subunit protein eS17", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); Diamond-Blackfan anemia 4 (Disease Ontology:DOID:0111890); Diamond-Blackfan anemia (Disease Ontology:DOID:1339)", "pathway": " (hsa:6218); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 326, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12042320;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15104674;15317934;15345747;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17647292;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;18566446;1861871;18657639;18669648;18974281;18991276;19060897;19061985;19106111;19117535;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19664995;19690332;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21081667;21097556;21136679;21145460;21209280;21406692;21419344;21872626;21993680;22072790;22121020;22174690;22190735;22195017;22424782;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23439679;23481700;23482395;23555621;23636399;23739916;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25114211;25132172;25242263;25418920;25432065;25469497;25502872;25525153;25645385;25802875;25853866;25892735;25969445;26154972;26237581;26375851;26811146;26992070;27452731;27526673;27543614;27600516;27846572;27862975;27893789;27920218;28063628;28065601;28132843;28228285;28510447;28685749;28832583;28834231;28855257;28904123;29093164;29242379;29317506;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30192525;30293783;30315122;30410026;30429286;30524438;30779550;30804176;30833945;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32099016;32157095;32161166;32350084;32357974;32387766;3240863;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33141586;33188728;33214551;33268501;33298915;33479166;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34315815;34357683;34373319;34509645;34516797;34561969;34624207;35051231;35083852;35138101;35154160;35251023;3529092;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36610391;36638793;37217939;37938771;38665916;39395807;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7584149;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). 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]; Nuclear and nucleolar localization signals within the human ribosomal protein S17 have been mapped. Publication Status: Online-Only, [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 ribosomal protein that is a component of the 40S subunit. The protein belongs to the S17E family of ribosomal proteins and is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia 4. Alternative splicing of this gene results in multiple transcript variants. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "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": "B2R4U4;P0CW22", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane", "go_biological_process": "GO:0006413 translational initiation;GO:0006412 translation;GO:0034101 erythrocyte homeostasis;GO:0006364 rRNA processing;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 32.9, "record_id": "P08708-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y508-1", "uniprot_id": [ { "id": "RN114_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y508", "type": "external" } ], "mass": 25694.0, "length": 228, "protein_name": "E3 ubiquitin-protein ligase RNF114", "gene_name": "RNF114", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF114", "refseq_ac": [ { "id": "NP_061153", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061153", "type": "external" } ], "gene_names_uniprotkb": "RNF114; ZNF228; ZNF313", "gene_names_refseq": "PSORS12; RNF114; ZNF313", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF114; 2.3.2.27; RING finger protein 114; RING-type E3 ubiquitin transferase RNF114; Zinc finger protein 228; Zinc finger protein 313", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF114; RING-type E3 ubiquitin transferase RNF114; zinc finger protein 228; zinc finger protein 313", "tax_id": 9606, "disease": "male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:55905); (R-HSA-983168)", "pathway_count": 2, "publication_count": 102, "publication_id_list": "11062501;11237011;11350924;12621547;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;18364390;18662542;18802091;19028597;19352404;19452197;19489725;19608861;19851334;19874575;19940261;2261476;22898188;23481700;23645206;24715725;25165885;25576301;25645385;26154972;26375851;26758079;26992070;27600516;27846572;27862975;27920218;28228285;28625874;28708287;28832583;28834231;29242379;29331515;29393594;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30484775;30524438;30779550;31092671;31154438;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34433824;34509645;34561969;35051231;35318648;35545202;35580925;36010968;36215666;36241641;36284347;37523804;37938771;38665916;9380723;9668046", "class_list": "", "function": "E3 ubiquitin ligase RNF114 promotes vesicular stomatitis virus replication via inhibiting type I interferon production., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that promotes the ubiquitination of various substrates (PubMed:23645206, PubMed:25165885). In turn, participates in the regulation of many biological processes including cell cycle, apoptosis, osteoclastogenesis as well as innate or adaptive immunity (PubMed:25165885, PubMed:28708287). Acts as a negative regulator of NF-kappa-B-dependent transcription by promoting the ubiquitination and stabilization of the NF-kappa-B inhibitor TNFAIP3 (PubMed:25165885). May promote the ubiquitination of TRAF6 as well (PubMed:28708287). Also acts as a negative regulator of T-cell activation (PubMed:25165885). Inhibits cellular dsRNA responses and interferon production by targeting MAVS component for proteasomal degradation (PubMed:25165885). Ubiquitinates the CDK inhibitor CDKN1A leading to its degradationand probably also CDKN1B and CDKN1C (PubMed:23645206). This activity stimulates cell cycle G1-to-S phase transition and suppresses cellular senescence. May play a role in spermatogenesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; RNF114 facilitates the proliferation, stemness, and metastasis of colorectal cancer., [RefSeq, PubMed]; ZNF313 is a novel psoriasis susceptibility gene. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RDQ9;B4DWY5;E1P627;Q6N0B0", "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_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q9Y508-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYM1-1", "uniprot_id": [ { "id": "SEP12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYM1", "type": "external" } ], "mass": 40748.0, "length": 358, "protein_name": "Septin-12", "gene_name": "SEPTIN12", "organism": "Human", "refseq_name": "septin-12 isoform 1", "refseq_ac": [ { "id": "NP_001147930", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001147930", "type": "external" } ], "gene_names_uniprotkb": "SEPTIN12; SEPT12", "gene_names_refseq": "SEPT12; SEPTIN12; SPGF10", "protein_names_uniprotkb": "Septin-12", "protein_names_refseq": "septin-12 isoform 1; testicular tissue protein Li 168", "tax_id": 9606, "disease": "spermatogenic failure 10 (Disease Ontology:DOID:0070178)", "pathway": " (hsa:124404)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;15915442;17685441;17967425;18047794;18443421;19359518;20801438;21636737;22116646;22275165;24213608;25588830;25775403;28346465;30488758;34057684;35547809;38870534", "class_list": "", "function": "Decreases in SEPTIN12 expression is associated with male infertility., [RefSeq, PubMed]; Filament-forming cytoskeletal GTPase (By similarity). Involved in the morphogenesis of sperm heads and the elongation of sperm tails probably implicating the association with alpha- and beta-tubulins (PubMed:24213608). Facilitates the formation of Septin filament structures with SEPTIN7, SEPTIN6, SEPTIN2 and SEPTIN4 at the sperm annulus (PubMed:25588830, PubMed:28346465). Correct formation of the annulus is required for development of normal structural morphology and motility of the sperm during steps 13 to 16 of spermiogenesis (PubMed:25588830). Essential component of the LMNB1/SUN5/SEPT12 bridge that connects the sperm proximal centriole to the implantation fossa, the bridge functions to prevent detachment of the proximal centriole from the posterior nucleus during steps 13 to 16 of spermiogenesis (PubMed:38870534). Required for PLCZ1 localization at the sperm acrosome during spermiogenesis (By similarity). May also play a role in the initiation of calcium oscillations in embryos (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; SEPTIN12 c.474 G > A polymorphism as a risk factor in teratozoospermic patients., [RefSeq, PubMed]; SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction., [RefSeq, PubMed]; This gene encodes a guanine-nucleotide binding protein and member of the septin family of cytoskeletal GTPases. Septins play important roles in cytokinesis, exocytosis, embryonic development, and membrane dynamics. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; While SEPT12 formed filamentous structures at interphase, it was localized to the central spindle and to midbody during anaphase and cytokinesis, respectively., [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": 4, "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": "Q0P6B0;Q1PBH0;Q96LL0", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0097227 sperm annulus;GO:0005940 septin ring;GO:0005634 nucleus;GO:0005819 spindle;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0008104 intracellular protein localization;GO:0061640 cytoskeleton-dependent cytokinesis", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q8IYM1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2PPJ7-1", "uniprot_id": [ { "id": "RGPA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2PPJ7", "type": "external" } ], "mass": 210770.0, "length": 1873, "protein_name": "Ral GTPase-activating protein subunit alpha-2", "gene_name": "RALGAPA2", "organism": "Human", "refseq_name": "ral GTPase-activating protein subunit alpha-2", "refseq_ac": [ { "id": "NP_065076", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065076", "type": "external" } ], "gene_names_uniprotkb": "RALGAPA2; C20orf74; KIAA1272", "gene_names_refseq": "AS250; C20orf74; RALGAPA2; bA287B20.1; dJ1049G11.4; dJ1049G11; p220", "protein_names_uniprotkb": "Ral GTPase-activating protein subunit alpha-2; 250 kDa substrate of Akt; AS250; p220", "protein_names_refseq": "250 kDa substrate of Akt; Ral GTPase activating protein catalytic alpha subunit 2; Ral GTPase activating protein, alpha subunit 2 (catalytic); RapGAPalpha2; akt substrate AS250; ral GTPase-activating protein alpha subunit 2; ral GTPase-activating protein subunit alpha-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57186); (R-HSA-1445148)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15919790;15971998;16490346;16880201;17369524;17995453;18669648;19013499;19252894;20058876;20166139;20631154;20701589;20837646;20937701;21406692;21454505;21454690;21907143;22450745;23186163;23481700;24275569;24715725;2550440;25880248;26992070;27862975;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29786170;30192525;30315122;30379171;30779550;30833945;31058283;31154438;31329042;31844290;31848261;32157095;32357974;32387766;32880825;32897882;32938616;33141586;33298915;33392160;33537174;33912179;33968037;33981976;34087483;34171305;34185709;34509645;34932366;35051231;35318648;35494241;35580925;36010968;36215666;36284347;37938771;39531497;8094051;8664345", "class_list": "", "function": "Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB., [UniProtKB]; Downregulation of Ral GTPase-activating protein promotes tumor invasion and metastasis of bladder cancer., [RefSeq, PubMed]; Loss of RalGAP function has a distinct role in promoting progression from prostatic intraepithelial neoplasia to invasive adenocarcinoma., [RefSeq, PubMed]; Low RalGAPalpha2 expression was associated with a reduced survival rate in patients with oral squamous cell carcinoma, [RefSeq, PubMed]; The cDNA sequence for human AS250 is reported, and the sites that undergo phosphorylation upon insulin treatment of adipocytes have been identified by tandem mass spectrometry., [RefSeq, PubMed]; The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast 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": 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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "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": "Q4VXU6;Q5JUA3;Q5JUA4;Q5T9K3;Q96CX9;Q9BQT7;Q9H9D9;Q9ULE8", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0090630 activation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q2PPJ7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1EHB4-1", "uniprot_id": [ { "id": "SC5AC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1EHB4", "type": "external" } ], "mass": 67647.0, "length": 618, "protein_name": "Sodium-coupled monocarboxylate transporter 2", "gene_name": "SLC5A12", "organism": "Human", "refseq_name": "sodium-coupled monocarboxylate transporter 2", "refseq_ac": [ { "id": "NP_848593", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848593", "type": "external" } ], "gene_names_uniprotkb": "SLC5A12; SMCT2", "gene_names_refseq": "SLC5A12; SMCT2", "protein_names_uniprotkb": "Sodium-coupled monocarboxylate transporter 2; Electroneutral sodium monocarboxylate cotransporter; Low-affinity sodium-lactate cotransporter; Solute carrier family 5 member 12", "protein_names_refseq": "electroneutral sodium monocarboxylate cotransporter; low-affinity sodium-lactate cotransporter; sodium-coupled monocarboxylate transporter 2; sodium-iodide related cotransporter; solute carrier family 5 (sodium/glucose cotransporter), member 12; solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:159963); (R-HSA-428643)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10585886;11237011;11945784;11946196;1252077;16920706;17692818;19615748;19787704;23393310;23481700;26870663;26992070;28218747;28834231;29031613;29211846;29437277;29557506;30604288;31708446;31844290;33392160;34020084;34520823;35051231;35728586;38650461;4687397;4716993;4719206;4745729;7470147;8597574", "class_list": "", "function": "Acts as an electroneutral and low-affinity sodium Na(+)-dependent sodium-coupled solute transporter (PubMed:17692818). Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D-hydroxybutyrate (By similarity). May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Probably part of D-serine transport systems involved in D-serine reabsorption at the brush border of renal proximal tubules., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed]; Lactate Buildup at the Site of Chronic Inflammation Promotes Disease by Inducing CD4(+) T Cell Metabolic Rewiring., [RefSeq, PubMed]; Low-affinity transporter SMCT2 initiates lactate absorption in the early parts of the proximal tubule followed by the participation of the high-affinity transporter SMCT1 in the latter parts of the proximal tubule., [RefSeq, PubMed]; Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]., [RefSeq]; Results indicate that the SMCT1-PDZK1 interaction thus plays an important role in both lactate handling as well as urate reabsorption in the human kidney., [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": 20, "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": "Q86UC7", "ec_number_list": [], "go_molecular_function": "GO:0015293 symporter activity;GO:0005343 organic acid:sodium symporter activity;GO:0015129 lactate transmembrane transporter activity;GO:0140161 monocarboxylate:sodium symporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0015711 organic anion transport;GO:0006814 sodium ion transport;GO:0015718 monocarboxylic acid transport", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q1EHB4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P67812-1", "uniprot_id": [ { "id": "SC11A_HUMAN", "url": "https://www.uniprot.org/uniprot/P67812", "type": "external" } ], "mass": 20625.0, "length": 179, "protein_name": "Signal peptidase complex catalytic subunit SEC11A", "gene_name": "SEC11A", "organism": "Human", "refseq_name": "signal peptidase complex catalytic subunit SEC11A isoform 1", "refseq_ac": [ { "id": "NP_001258850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258850", "type": "external" } ], "gene_names_uniprotkb": "SEC11A; SEC11L1; SPC18; SPCS4A", "gene_names_refseq": "1810012E07Rik; SEC11A; SEC11L1; SPC18; SPCS4A; sid2895", "protein_names_uniprotkb": "Signal peptidase complex catalytic subunit SEC11A; 3.4.21.89; Endopeptidase SP18; Microsomal signal peptidase 18 kDa subunit; SEC11 homolog A; SEC11-like protein 1; SPC18; SPase 18 kDa subunit", "protein_names_refseq": "SEC11-like protein 1; SPase 18 kDa subunit; endopeptidase SP18; microsomal signal peptidase 18 kDa subunit; signal peptidase complex (18kD); signal peptidase complex 18; signal peptidase complex catalytic subunit SEC11A isoform 1; signal peptidase complex catalytic subunit SEC11A", "tax_id": 9606, "disease": "", "pathway": " (hsa:23478); (R-HSA-1799339); (R-HSA-381771); (R-HSA-400511); (R-HSA-422085); (R-HSA-9768727); (R-HSA-9828806); (R-HSA-9918432)", "pathway_count": 8, "publication_count": 134, "publication_id_list": "10228156;10366038;10604470;11089560;11237011;11564718;11600536;11756331;11964406;11978683;12050285;12354137;12414809;12540594;12553549;12651102;12810581;12853463;14599721;14719035;14719797;1499644;15126524;15126574;15142980;15256494;15584901;15604212;15619630;16171404;16219666;16469117;16728727;17065399;17145369;17261850;17289852;17595255;17681422;18166647;18202141;18396350;18443287;18455985;18491227;18519800;18593849;18991276;19001044;19280057;19327128;19628676;20068231;20444697;22223895;22375065;22706990;23995782;24681004;24715725;24966173;25418920;25576301;25645385;25892735;26208004;26375851;26416966;26992070;27255086;27383988;27397612;27543614;27600516;27846572;27920218;28218747;28228285;28228593;28446606;28512129;28832583;28834231;2890159;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30429286;30444036;30524438;30828317;31092671;31154438;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32897882;32983136;33298915;33592498;33675129;33936100;33968037;33981976;34357683;34388369;34509645;35051231;35215835;35580925;36010968;36456166;36581221;3841689;38665916;38793607;3900195;7883856;7982500;8100523;8428636;8798518;9631292", "class_list": "", "function": "Catalytic component of the signal peptidase complex (SPC) which catalyzes the cleavage of N-terminal signal sequences from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum (PubMed:34388369). Specifically cleaves N-terminal signal peptides that contain a hydrophobic alpha-helix (h-region) shorter than 18-20 amino acids (PubMed:34388369)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Clinical Significance of SEC11A Expression in Patients With Locally Advanced Gastric Cancer., [RefSeq, PubMed]; MiR-873-5p modulates progression of tongue squamous cell carcinoma via targeting SEC11A., [RefSeq, PubMed]; SPC18 contributes to malignant progression through promotion of TGF-alpha secretion in gastric cancer. Erratum:[Oncogene. 2019 Jul;38(28):5748. doi: 10.1038/s41388-019-0837-z. PMID: 31175341], [RefSeq, PubMed]; Structure of the human signal peptidase complex reveals the determinants for signal peptide cleavage., [RefSeq, PubMed]; This gene encodes a member of the peptidase S26B family. The encoded protein is an 18kDa subunit of the signal peptidase complex and has been linked to cell migration and invasion, gastric cancer and lymph node metastasis. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Dec 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": 4, "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": "B2RAD7;B4DUL4;H0YK72;H0YK83;O75957;P21378;Q53FQ8", "ec_number_list": [ { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "3.4.21.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.89", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity;GO:0009003 signal peptidase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0005787 signal peptidase complex;GO:0016020 membrane", "go_biological_process": "GO:0009615 response to virus;GO:0006465 signal peptide processing", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P67812-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63302-1", "uniprot_id": [ { "id": "SELW_HUMAN", "url": "https://www.uniprot.org/uniprot/P63302", "type": "external" } ], "mass": 9448.0, "length": 87, "protein_name": "Selenoprotein W", "gene_name": "SELENOW", "organism": "Human", "refseq_name": "selenoprotein W", "refseq_ac": [ { "id": "NP_003000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003000", "type": "external" } ], "gene_names_uniprotkb": "SELENOW; SELW; SEPW1", "gene_names_refseq": "SELENOW; SEPW1; selW", "protein_names_uniprotkb": "Selenoprotein W; SelW", "protein_names_refseq": "selenoprotein W, 1; selenoprotein W", "tax_id": 9606, "disease": "", "pathway": " (hsa:6415)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10718624;11237011;12818432;27645994;28904123;29786170;30315122;30636640;30876693;31154438;31844290;32161166;32938616;35318648;38460355;38683225;9256076", "class_list": "", "function": "Functional studies demonstrated that piRNA-36,712 interacts with RNAs produced by SEPW1P, a retroprocessed pseudogene of SEPW1, and subsequently inhibits SEPW1 expression through competition of SEPW1 mRNA with SEPW1P RNA for microRNA-7 and microRNA-324. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role as a glutathione (GSH)-dependent antioxidant. May be involved in a redox-related process. May play a role in the myopathies of selenium deficiency (By similarity)., [UniProtKB]; Role of Selenoprotein W in participating in the progression of non-alcoholic fatty liver disease., [RefSeq, PubMed]; Selenoprotein W engages in overactive osteoclast differentiation in multiple myeloma. Publication Status: Online-Only, [RefSeq, PubMed]; The gene lacks canonical TATA and CAAT boxes, but has numerous Sp1 consensus binding sites upstream of multiple transcription start sites. SEPW1 is expressed in all of the 22 tissues assayed, and shows highest expression in skeletal muscle and heart., [RefSeq, PubMed]; This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is highly expressed in skeletal muscle, heart and brain. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Studies in mouse show that this selenoprotein is involved in muscle growth and differentiation, and in the protection of neurons from oxidative stress during neuronal development. A retroprocessed pseudogene of this locus has been identified on chromosome 1. [provided by RefSeq, Aug 2017]., [RefSeq]; We performed a yeast two-hybrid screen on a human fetal brain cDNA library and identified FAM96B as a novel binding partner of SelW. FRET analyses confirmed the interaction between SelW' and FAM96B., [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": "A8MRR7;O15532;O19096;Q86TI9;Q96KM5", "ec_number_list": [], "go_molecular_function": "GO:0016209 antioxidant activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0030218 erythrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "P63302-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3A4-1", "uniprot_id": [ { "id": "RRP7A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3A4", "type": "external" } ], "mass": 32334.0, "length": 280, "protein_name": "Ribosomal RNA-processing protein 7 homolog A", "gene_name": "RRP7A", "organism": "Human", "refseq_name": "ribosomal RNA-processing protein 7 homolog A", "refseq_ac": [ { "id": "NP_056518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056518", "type": "external" } ], "gene_names_uniprotkb": "RRP7A; CGI-96", "gene_names_refseq": "BK126B4.3; CGI-96; MCPH28; RRP7A; Rrp7", "protein_names_uniprotkb": "Ribosomal RNA-processing protein 7 homolog A; Gastric cancer antigen Zg14", "protein_names_refseq": "CTA-126B4.5; gastric cancer antigen Zg14; ribosomal RNA-processing protein 7 homolog A", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 28 (Disease Ontology:DOID:0051039); primary microcephaly (Disease Ontology:DOID:0070297)", "pathway": " (hsa:27341); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 124, "publication_id_list": "10606270;11081632;11237011;11922599;11935223;11978965;12068309;12087473;12150911;12417735;15199136;16037817;16043514;16381836;16738141;16782898;17189298;17353269;17412707;17636026;18065403;18438418;18477386;18669648;19033376;19106111;19332556;19463982;19564402;19801658;20038530;20047967;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23391857;23439679;23481700;23482395;2388630;24086612;24424021;24550520;25411247;25418920;25505266;25525153;25576301;25645385;25653167;25851604;25892735;25969445;26024233;26085946;26154972;26196125;26237581;26375851;26992070;27084949;27600516;27846572;27920218;28218747;28228285;28832583;28834231;29242379;29437277;29493099;29557506;29632711;29769354;29786170;30484775;30524438;30779550;30833945;31154438;31217245;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32502341;32897882;32938616;32983136;33123756;33141586;33199730;33298915;33592498;33633747;33691108;33717175;33912179;33936100;34211107;34405274;34509645;34516797;34561969;35051231;35561310;35580925;9211966;9482744;9512526", "class_list": "", "function": "Nucleolar protein that is involved in ribosomal RNA (rRNA) processing (PubMed:33199730). Also plays a role in primary cilia resorption, and cell cycle progression in neurogenesis and neocortex development (PubMed:33199730). 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]; RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis. 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FTX2;B2RBG4;Q0VAD0;Q5JZ94;Q6P4B5;Q8IVR9;Q8IVY0;Q8N5Q3;Q8NEY6;Q9Y3H5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005929 cilium", "go_biological_process": "GO:1902570 protein localization to nucleolus;GO:0042254 ribosome biogenesis;GO:0006364 rRNA processing;GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q9Y3A4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y676-1", "uniprot_id": [ { "id": "RT18B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y676", "type": "external" } ], "mass": 29396.0, "length": 258, "protein_name": "Small ribosomal subunit protein mS40", "gene_name": "MRPS18B", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS40", "refseq_ac": [ { "id": "NP_054765", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054765", "type": "external" } ], "gene_names_uniprotkb": "MRPS18B; C6orf14; HSPC183; PTD017", "gene_names_refseq": "C6orf14; HSPC183; HumanS18a; MRP-S18-2; MRPS18-2; MRPS18B; PTD017; S18amt; mS40", "protein_names_uniprotkb": "Small ribosomal subunit protein mS40; 28S ribosomal protein S18-2, mitochondrial; 28S ribosomal protein S18b, mitochondrial; MRP-S18-2; MRP-S18-b; Mrps18-b; S18mt-b; Small ribosomal subunit protein bS18b", "protein_names_refseq": "28S ribosomal protein S18-2, mitochondrial; 28S ribosomal protein S18b, mitochondrial; MRP-S18-b; S18mt-b; mitochondrial ribosomal protein S18-2; mitochondrial small ribosomal subunit protein bS18b; mitochondrial small ribosomal subunit protein bS18m-B; mitochondrial small ribosomal subunit protein mS40; mrps18-b; small ribosomal subunit protein mS40", "tax_id": 9606, "disease": "", "pathway": " (hsa:28973); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 58, "publication_id_list": "11279123;15358359;16702430;17803939;18391203;18429816;18691976;18782833;19524667;19716793;20186120;21907147;22172991;2250005;23186163;25233460;25418920;25838379;26375851;27023846;27029019;27600516;27846572;27862975;28063628;28510447;28832583;28892042;29242379;29393594;29485866;29493099;29508533;29632046;30429286;31154438;31844290;32157095;32357974;32502341;32938616;32983136;33243891;33592498;33878294;33968037;33981976;34357683;34591434;34932366;35580925;36241641;36284347;36302763;36596788;37141370;38665916;40914422", "class_list": "", "function": "EBNA-6 {ebna-3c} binds to MRPS18-2 , and targets it to the nucleus; binding targets the small pocket of pRb, which is a site of interaction with E2F1. The MRPS18-2 competes with the binding of E2F1 to pRb, thereby raising the level of free E2F1, [RefSeq, PubMed]; Expression pattern of MRPS18 family genes in gliomas., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [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": "A6NDQ0;Q659G4;Q9BS27", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9Y676-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58004-1", "uniprot_id": [ { "id": "SESN2_HUMAN", "url": "https://www.uniprot.org/uniprot/P58004", "type": "external" } ], "mass": 54494.0, "length": 480, "protein_name": "Sestrin-2", "gene_name": "SESN2", "organism": "Human", "refseq_name": "sestrin-2", "refseq_ac": [ { "id": "NP_113647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113647", "type": "external" } ], "gene_names_uniprotkb": "SESN2; Hi95; SEST2", "gene_names_refseq": "HI95; SES2; SESN2; SEST2", "protein_names_uniprotkb": "Sestrin-2; 1.11.1.-; Hypoxia-induced gene", "protein_names_refseq": "hypoxia induced gene 95; hypoxia-induced; sestrin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83667); (R-HSA-5628897); (R-HSA-9639288); (R-HSA-9755511)", "pathway_count": 4, "publication_count": 211, "publication_id_list": "10329961;10716435;10745013;10980602;11029283;11034341;11230166;11340051;11486029;11545734;11959846;12161445;12198130;12203114;12438239;12453409;12607115;12700136;12714747;12869586;12906785;13298683;13538944;14517290;14585973;14651849;14688281;14764894;15105503;15223;15589136;15854902;15878852;15983046;16098514;16140933;16286508;16359182;16413492;16636147;16728594;16760263;16839880;16962933;17298220;17470430;17486094;17512459;17540029;17979524;18198340;18238777;18273910;18344994;18491316;18497260;18604198;18692468;19113821;19439913;19487573;19822145;20080666;20182617;20351271;20378532;20378837;20381137;20452972;20495340;21220506;21391649;21734707;21750704;21958598;22053050;22363791;22575674;22789539;22872865;22980980;23186163;23274085;23481700;23723238;23775793;24011591;24066844;24081491;24095279;24275569;24298019;24366874;24383451;24715725;24718924;24947615;25040165;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25579166;25645385;25793262;25819761;25892735;25921531;26117325;26154972;26375851;26449471;26583321;26586190;26612684;26652033;26811146;26942676;26972053;26992070;27308486;27487210;27648300;27920218;28066558;28199306;28199315;28218747;28228285;28380357;28832583;28834231;28855257;28904123;29053970;29056322;29123071;29233872;29236692;29242379;29393594;29437277;29450944;29493099;29508533;29526543;29557506;29632046;29769354;30061680;30181260;30315122;30379171;30610225;30651352;30779550;31530632;31546975;31586034;31844290;31848261;32157095;32284348;32293500;32357974;32387766;32488085;32502341;32640524;32672401;32854424;32938616;32983136;33009401;33298915;33392160;33633747;33717175;33791708;33859744;33936100;33968037;33981976;34171305;34509645;34561969;35051231;35114100;35580925;35831510;36010968;36241641;36284347;36528027;37217939;38253038;38331008;38379215;38780907;39388305;39443993;40596516;5666113;7499430;7979252;7989588;8119488;9926927", "class_list": "", "function": "DNA methylation-driven gene FAM3D promotes colorectal cancer growth via the ATF4-SESN2-mTORC1 pathway., [RefSeq, PubMed]; Functions as an intracellular leucine sensor that negatively regulates the mTORC1 signaling pathway through the GATOR complex (PubMed:18692468, PubMed:25263562, PubMed:25457612, PubMed:26449471, PubMed:26586190, PubMed:26612684, PubMed:31586034, PubMed:35114100, PubMed:35831510, PubMed:36528027). In absence of leucine, binds the GATOR subcomplex GATOR2 and prevents mTORC1 signaling (PubMed:18692468, PubMed:25263562, PubMed:25457612, PubMed:26449471, PubMed:26586190, PubMed:26612684, PubMed:31586034, PubMed:35114100, PubMed:35831510, PubMed:36528027). Binding of leucine to SESN2 disrupts its interaction with GATOR2 thereby activating the TORC1 signaling pathway (PubMed:26449471, PubMed:26586190, PubMed:35114100, PubMed:35831510, PubMed:36528027). This stress-inducible metabolic regulator also plays a role in protection against oxidative and genotoxic stresses. May negatively regulate protein translation in response to endoplasmic reticulum stress, via mTORC1 (PubMed:24947615). May positively regulate the transcription by NFE2L2 of genes involved in the response to oxidative stress by facilitating the SQSTM1-mediated autophagic degradation of KEAP1 (PubMed:23274085). May also mediate TP53 inhibition of TORC1 signaling upon genotoxic stress (PubMed:18692468). Moreover, may prevent the accumulation of reactive oxygen species (ROS) through the alkylhydroperoxide reductase activity born by the N-terminal domain of the protein (PubMed:26612684). Was originally reported to contribute to oxidative stress resistance by reducing PRDX1 (PubMed:15105503). However, this could not be confirmed (PubMed:19113821)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results show that sestrins, a family of proteins whose expression is modulated by p53, are required for regeneration of peroxiredoxins containing Cys-SO(2)H, [RefSeq, PubMed]; SETDB1 targeting SESN2 regulates mitochondrial damage and oxidative stress in renal ischemia-reperfusion injury. Publication Status: Online-Only, [RefSeq, PubMed]; Sestrin 2 protects human lens epithelial cells from oxidative stress and apoptosis induced by hydrogen peroxide by regulating the mTOR/Nrf2 pathway., [RefSeq, PubMed]; Sestrin2 Protects Human Lens Epithelial Cells (HLECs) Against Apoptosis in Cataracts Formation: Interaction Between Endoplasmic Reticulum (ER) Stress and Oxidative Stress (OS) is Involved., [RefSeq, PubMed]; Sestrin2 reduces ferroptosis via the Keap1/Nrf2 signaling pathway after intestinal ischemia-reperfusion., [RefSeq, PubMed]; This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [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": 4, "reported_mutagensis": 44, "reported_glycation": 0, "reported_snv": 11, "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": "Q5T7D0;Q96SI5", "ec_number_list": [ { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0016684 oxidoreductase activity, acting on peroxide as acceptor;GO:0005092 GDP-dissociation inhibitor activity;GO:0032542 sulfiredoxin activity;GO:0042731 PH domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0031588 nucleotide-activated protein kinase complex", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0072659 protein localization to plasma membrane;GO:0032147 activation of protein kinase activity;GO:0030308 negative regulation of cell growth;GO:0034599 cellular response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "P58004-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75056-1", "uniprot_id": [ { "id": "SDC3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75056", "type": "external" } ], "mass": 45497.0, "length": 442, "protein_name": "Syndecan-3", "gene_name": "SDC3", "organism": "Human", "refseq_name": "syndecan-3", "refseq_ac": [ { "id": "NP_055469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055469", "type": "external" } ], "gene_names_uniprotkb": "SDC3; KIAA0468", "gene_names_refseq": "SDC3; SDCN; SYND3", "protein_names_uniprotkb": "Syndecan-3; SYND3", "protein_names_refseq": "N-syndecan; syndecan neural type; syndecan proteoglycan 3; syndecan-3", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:9672); (R-HSA-1971475); (R-HSA-2022928); (R-HSA-2024096); (R-HSA-202733); (R-HSA-3000170); (R-HSA-3560783); (R-HSA-3560801); (R-HSA-3656237); (R-HSA-3656253); (R-HSA-4420332); (R-HSA-9694614); (R-HSA-975634); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9820960); (R-HSA-9833110); (R-HSA-9918481); (R-HSA-9918485)", "pathway_count": 19, "publication_count": 371, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10026158;10052934;10318803;10446189;10466419;10473568;10480354;10506123;10606205;10639137;10644753;10677367;10716625;10764623;10769148;10842173;11027606;11035113;11060341;11087757;11099377;11169766;11181758;11207550;11237011;11238108;11256994;11274177;11274389;11279150;11337487;11390981;11391482;11477410;11527150;11551958;11564780;11607032;11747608;11779189;11812992;11833835;11877387;12052963;12070135;12138164;12208882;12213822;12407114;12441129;12469115;12492399;12522689;12682107;12782713;1279089;12907439;12927802;12975610;14519844;14529530;14615387;14681059;14762106;14976204;14976261;14982929;14993226;15000751;15010527;15082721;15084397;15098107;15140961;15163706;15211654;15294915;15358783;1542003;15461586;15474033;15479743;15507651;15528364;15583000;15607426;15647514;15681301;15721307;15838506;1591491;16151907;16161994;1618828;16200213;16258728;16297198;16343444;16585556;16619025;16691243;16737840;16783819;16939223;16945929;16960811;16962401;17018662;17033958;17064312;17099249;17116209;17167768;17172599;17194707;17314405;17322099;17379836;17442946;17452516;17505016;17506785;17525477;17525755;17563375;17580308;17598008;17600130;17615384;17625065;17635713;17644776;18087047;18266465;18295589;18420935;18460466;18507396;1856611;1874730;19014918;1902833;19139408;19279206;19297154;1930190;19344451;1946389;19473117;2040636;20410276;20427285;20554947;20560209;20560210;20576607;20650889;20691685;21068237;21106934;21193412;2122463;21325420;21659548;21700882;21763480;21851338;21911577;21932952;22090124;22144186;2248955;22496216;22618708;22652793;2271516;22786881;22810237;22816037;22869377;23006890;23084921;23105391;23395182;23584533;23621622;23656592;23658209;23664117;23664118;23683607;2384594;23945545;24043627;24074594;24106281;24227843;24425863;24443026;24554904;24764293;2538457;25418920;25521717;25576301;25645385;25713144;25813380;25854864;25855704;26056282;26092250;26212330;26311884;26468529;26929215;26953343;2704749;27108190;271951;27277342;27550352;27832191;2793848;28132690;28148688;29419409;29427996;29437578;29557506;29610346;2963012;29742433;29902443;30459171;30471091;3052293;30599162;30918026;31003762;31262782;31439947;31611695;31720911;32125455;32142651;32157095;32179150;32350084;32362314;32387766;32488085;32512386;32532959;32653452;32703818;3275472;32938616;32970989;32983136;32995803;33082293;33082294;33159882;33177556;33298900;33493182;33493263;33494095;33554856;33774649;33968037;33981976;34023935;34159616;34171305;34179075;34209175;34235261;34235568;34324210;34431042;34445387;34509645;34510494;34542788;34561887;34611326;34732583;34782609;34929169;35051231;35215846;35251023;3527261;35343766;35580925;35628603;35676258;36010968;36102648;36284347;36447229;36951953;3714052;3744129;37726033;37925034;3863104;3942763;4345202;468991;5057882;5675424;6323392;6420172;6496574;6961410;6980899;7493035;7499257;7509040;7521878;7550340;7601448;7683668;7711731;8017323;8144529;8163559;8166770;8314844;8384721;8578528;8598903;8609172;8639673;8639781;8728311;8776591;8782816;8894688;8981950;9052782;9115237;9169774;9218519;9242610;9285796;9295288;9326317;9346953;9382878;9388509;9459334;9463333;9469622;9506957;9535912;9620772;9693095;9763524;9888420;9892646;9915799;9920938;9925661;9931503;9988767", "class_list": "glycogene", "function": "A genome-wide association study identifies a novel association between SDC3 and apparent treatment-resistant hypertension. Erratum:[BMC Med. 2022 Dec 20;20(1):491. doi: 10.1186/s12916-022-02717-2. PMID: 36539737] Publication Status: Online-Only, [RefSeq, PubMed]; Cell surface proteoglycan that may bear heparan sulfate (By similarity). May have a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism., [UniProtKB, PubMed]; Cell surface proteoglycan., [UniProtKB, UniProtKB]; Syndecan Family Gene and Protein Expression and Their Prognostic Values for Prostate Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The Cell Surface Heparan Sulfate Proteoglycan Syndecan-3 Promotes Ovarian Cancer Pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The Interplay of Apoes with Syndecans in Influencing Key Cellular Events of Amyloid Pathology. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the syndecan proteoglycan family. It may play a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. Allelic variants of this gene have been associated with obesity. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 10, "predicted_n_glycosites": 0, "predicted_o_glycosites": 10, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 9, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 26, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 26, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 604, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 1, "glyco_site_count": 36, "binding_glycan_count": 0, "secondary_ac_list": "Q5T1Z6;Q5T1Z7;Q96CT3;Q96PR8", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0044393 microspike;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0016477 cell migration", "synthesized_glycan_count": 0, "hit_score": 40.2, "record_id": "O75056-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09430-1", "uniprot_id": [ { "id": "STP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P09430", "type": "external" } ], "mass": 6424.0, "length": 55, "protein_name": "Spermatid nuclear transition protein 1", "gene_name": "TNP1", "organism": "Human", "refseq_name": "spermatid nuclear transition protein 1", "refseq_ac": [ { "id": "NP_003275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003275", "type": "external" } ], "gene_names_uniprotkb": "TNP1", "gene_names_refseq": "TNP1; TP1", "protein_names_uniprotkb": "Spermatid nuclear transition protein 1; STP-1; TP-1", "protein_names_refseq": "STP-1; TP-1; spermatid nuclear transition protein 1; transition protein 1 (during histone to protamine replacement)", "tax_id": 9606, "disease": "", "pathway": " (hsa:7141)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "2040274;2249851;26098692;33440036;3412903;8019440;9809674", "class_list": "", "function": "Among Systemic lupus erythematosus patients, 63.6% and 45.5% of those with lupus nephritis were positive for anti-RRP8 and anti-TNP1 antibodies, compared with 12.5% and 9.4% of Systemic lupus erythematosus patients without nephritis, respectively. Publication Status: Online-Only, [RefSeq, PubMed]; Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction., [UniProtKB, UniProtKB]; Tobacco smoking and its impact on the expression level of sperm nuclear protein genes: H2BFWT, TNP1, TNP2, PRM1 and PRM2., [RefSeq, PubMed]; Transition protein-1 is a spermatid-specific product of the haploid genome which replaces histone and is itself replaced in the mature sperm by the protamines (see PRM1, MIM 182880; PRM2, MIM 182890) (Luerssen et al., 1990 [PubMed 2249851]).[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": 2, "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0001673 male germ cell nucleus;GO:0000786 nucleosome", "go_biological_process": "GO:0019953 sexual reproduction;GO:0006338 chromatin remodeling;GO:0030317 flagellated sperm motility;GO:0045892 negative regulation of DNA-templated transcription;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P09430-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48304-1", "uniprot_id": [ { "id": "REG1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P48304", "type": "external" } ], "mass": 18665.0, "length": 166, "protein_name": "Lithostathine-1-beta", "gene_name": "REG1B", "organism": "Human", "refseq_name": "lithostathine-1-beta precursor", "refseq_ac": [ { "id": "NP_006498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006498", "type": "external" } ], "gene_names_uniprotkb": "REG1B; PSPS2; REGL", "gene_names_refseq": "PSPS2; REG1B; REGH; REGI-BETA; REGL", "protein_names_uniprotkb": "Lithostathine-1-beta; PSP-2; Pancreatic stone protein 2; REG-1-beta; Regenerating islet-derived protein 1-beta; Regenerating protein I beta", "protein_names_refseq": "PSP-2; REG-1-beta; lithostathine-1-beta precursor; lithostathine-1-beta; regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein); regenerating islet-derived protein 1-beta; regenerating protein I beta; secretory pancreatic stone protein 2", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); colon cancer (Disease Ontology:DOID:219); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:5968)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;25767811;27539087;33112481;7607222;8110835;8348956", "class_list": "glycogene", "function": "Faecal regenerating 1B protein concentration is not associated with child growth in rural Malawi., [RefSeq, PubMed]; Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration., [UniProtKB]; REG-I is expressed in head and neck squamous cell carcinoma and is associated with a longer survival status. Publication Status: Online-Only, [RefSeq, PubMed]; The expression of REG Ialpha and REG Ibeta may be upregulated in human beta cells under inflammatory conditions through the JAK/STAT pathway, [RefSeq, PubMed]; This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV based on the primary structures of the encoded proteins. This gene encodes a protein secreted by the exocrine pancreas that is highly similar to the REG1A protein. The related REG1A protein is associated with islet cell regeneration and diabetogenesis, and may be involved in pancreatic lithogenesis. Reg family members REG1A, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [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": 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": 0, "reported_glycation": 0, "reported_snv": 334, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0043434 response to peptide hormone", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P48304-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49795-1", "uniprot_id": [ { "id": "RGS19_HUMAN", "url": "https://www.uniprot.org/uniprot/P49795", "type": "external" } ], "mass": 24636.0, "length": 217, "protein_name": "Regulator of G protein signaling 19", "gene_name": "RGS19", "organism": "Human", "refseq_name": "regulator of G-protein signaling 19", "refseq_ac": [ { "id": "NP_001034556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034556", "type": "external" } ], "gene_names_uniprotkb": "RGS19; GAIP; GNAI3IP", "gene_names_refseq": "GAIP; RGS19; RGSGAIP", "protein_names_uniprotkb": "Regulator of G protein signaling 19; G-alpha-interacting protein; GAIP; RGS19", "protein_names_refseq": "G alpha interacting protein; G protein signalling regulator 19; guanine nucleotide binding protein alpha inhibiting activity polypeptide 3 interacting protein; regulator of G-protein signaling 19; regulator of G-protein signalling 19", "tax_id": 9606, "disease": "", "pathway": " (hsa:10287); (R-HSA-416476); (R-HSA-418594); (R-HSA-418597)", "pathway_count": 4, "publication_count": 95, "publication_id_list": "10191087;10452897;10567430;10727532;10760275;10861009;10954748;10993892;11007482;11015615;11313909;11742120;11753430;12120503;1347957;15488168;15951850;16182515;16268778;16339447;16634148;16754659;16923326;17081983;18434541;18515384;18577758;18578522;18691976;18936096;1905813;1939224;23481700;24715725;2534964;25576301;25892735;26116529;26154972;26375851;26992070;2748346;27846572;27920218;28218747;2834384;2841328;28502923;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632711;29769354;29786170;30429286;30524438;3086311;31154438;31217245;31844290;31848261;31998317;32157095;32350084;32387766;32502341;32897882;33141586;33298915;33592498;33717175;33912179;34211107;34357683;34482807;34932366;35051231;35580925;36284347;38825640;7559455;7595566;7937899;8015379;8406495;8524874;8664309;8986788;9305846;9748280;9770463", "class_list": "", "function": "G proteins mediate a number of cellular processes. The protein encoded by this gene belongs to the RGS (regulators of G-protein signaling) family and specifically interacts with G protein, GAI3. This protein is a guanosine triphosphatase-activating protein that functions to down-regulate Galpha i/Galpha q-linked signaling. Alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Genome-wide screening for the G-protein-coupled receptor (GPCR) pathway-related therapeutic gene RGS19 (regulator of G protein signaling 19) in bladder cancer., [RefSeq, PubMed]; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G-alpha subfamily 1 members, with the order G(i)a3 > G(i)a1 > G(o)a >> G(z)a/G(i)a2. Activity on G(z)-alpha is inhibited by phosphorylation and palmitoylation of the G protein., [UniProtKB]; RGS19 activates the MYH9/beta-catenin/c-Myc positive feedback loop in hepatocellular carcinoma., [RefSeq, PubMed]; RGS19 senses cellular iron availability and is stabilized under iron-depleted conditions, resulting in the induction of a growth-inhibitory signal., [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": 11, "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": "A8K216;E1P5G9;Q53XN0;Q8TD60", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030054 cell junction;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0006914 autophagy;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "P49795-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49802-1", "uniprot_id": [ { "id": "RGS7_HUMAN", "url": "https://www.uniprot.org/uniprot/P49802", "type": "external" } ], "mass": 57668.0, "length": 495, "protein_name": "Regulator of G protein signaling 7", "gene_name": "RGS7", "organism": "Human", "refseq_name": "regulator of G-protein signaling 7 isoform 2", "refseq_ac": [ { "id": "NP_001269702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269702", "type": "external" } ], "gene_names_uniprotkb": "RGS7", "gene_names_refseq": "RGS7", "protein_names_uniprotkb": "Regulator of G protein signaling 7; RGS7", "protein_names_refseq": "regulator of G-protein signaling 7 isoform 2; regulator of G-protein signaling RGS7; regulator of G-protein signalling 7", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:6000); (R-HSA-418594); (R-HSA-6814122)", "pathway_count": 3, "publication_count": 39, "publication_id_list": "10339594;10339615;10521509;10862767;11007482;11237011;12120503;12659861;15889144;15897264;15951850;16634148;16702223;16717095;16923326;18434541;18577758;19376773;23637185;2534964;25659125;25675501;25892735;2748346;2834384;30379171;31189666;34793198;34815401;35051231;35561310;36574707;36999276;37589751;7937899;8015379;8406495;8548815;9153422", "class_list": "", "function": "A RGS7-CaMKII complex drives myocyte-intrinsic and myocyte-extrinsic mechanisms of chemotherapy-induced cardiotoxicity., [RefSeq, PubMed]; GTPase activator component of the RGS7-GNB5 complex that regulates G protein-coupled receptor signaling cascades (PubMed:10521509, PubMed:10862767, PubMed:31189666). The RGS7-GNB5 complex acts as an inhibitor signal transduction by promoting the GTPase activity of G protein alpha subunits, such as GNAO1, thereby driving them into their inactive GDP-bound form (PubMed:10521509, PubMed:10862767). May play a role in synaptic vesicle exocytosis (Probable) (PubMed:12659861). Glycine-dependent regulation of the RGS7-GNB5 complex by GPR158 affects mood and cognition via its ability to regulate neuronal excitability in L2/L3 pyramidal neurons of the prefrontal cortex (By similarity). Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signaling (PubMed:15897264)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; RGS7 balances acetylation/de-acetylation of p65 to control chemotherapy-dependent cardiac inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; RGS7 silence protects palmitic acid-induced pancreatic beta-cell injury by inactivating the chemokine signaling pathway., [RefSeq, PubMed]; Structure of the class C orphan GPCR GPR158 in complex with RGS7-Gbeta5. 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": 1, "reported_glycation": 0, "reported_snv": 8, "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": "Q5T3H4;Q8TD66;Q8TD67;Q8WW09;Q9UNU7;Q9Y6B9", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0001965 G-protein alpha-subunit binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0051286 cell tip;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0043547 positive regulation of GTPase activity;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0060078 regulation of postsynaptic membrane potential", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P49802-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78509-1", "uniprot_id": [ { "id": "RELN_HUMAN", "url": "https://www.uniprot.org/uniprot/P78509", "type": "external" } ], "mass": 388388.0, "length": 3460, "protein_name": "Reelin", "gene_name": "RELN", "organism": "Human", "refseq_name": "reelin isoform a precursor", "refseq_ac": [ { "id": "NP_005036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005036", "type": "external" } ], "gene_names_uniprotkb": "RELN", "gene_names_refseq": "ETL7; LIS2; PRO1598; RELN; RL", "protein_names_uniprotkb": "Reelin; 3.4.21.-", "protein_names_refseq": "reelin isoform a precursor", "tax_id": 9606, "disease": "familial temporal lobe epilepsy 7 (Disease Ontology:DOID:0060751); Norman-Roberts syndrome (Disease Ontology:DOID:0060902); Alzheimer's disease (Disease Ontology:DOID:10652); autistic disorder (Disease Ontology:DOID:12849); Down syndrome (Disease Ontology:DOID:14250); hypothyroidism (Disease Ontology:DOID:1459); status epilepticus (Disease Ontology:DOID:1824); bipolar disorder (Disease Ontology:DOID:3312); temporal lobe epilepsy (Disease Ontology:DOID:3328); liver cirrhosis (Disease Ontology:DOID:5082); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:5649); (R-HSA-8866376)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10328932;10571241;10973257;11237011;11317216;12446734;16529723;17350651;19159218;19664995;23052211;23506116;23584533;25892735;26046367;27862975;29242379;29391424;29557506;29769354;30379171;30429286;30459171;31154438;31611695;32350084;32357974;32387766;33141586;33968037;34357683;35051231;35251023;35494241;35580925;36010968;36215666;37074911;38296839;38771357;38980724;39062513;39232006;9049633;9861036", "class_list": "", "function": "De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism. Publication Status: Online-Only, [RefSeq, PubMed]; Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN. Publication Status: Online-Only, [RefSeq, PubMed]; Extracellular matrix serine protease secreted by pioneer neurons that plays a role in layering of neurons in the cerebral cortex and cerebellum by coordinating cell positioning during neurodevelopment. Regulates microtubule function in neurons and neuronal migration. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses. Publication Status: Online-Only, [RefSeq, PubMed]; Proximity interactome of lymphatic VE-cadherin reveals mechanisms of junctional remodeling and reelin secretion. Publication Status: Online-Only, [RefSeq, PubMed]; The interaction of RELN-DNMT genes involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility., [RefSeq, PubMed]; This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 12, "predicted_n_glycosites": 12, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 7, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 210, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 21, "disease_count": 11, "glyco_site_count": 23, "binding_glycan_count": 0, "secondary_ac_list": "A4D0P9;A4D0Q0;Q86UJ0;Q86UJ8;Q8NDV0;Q9UDQ2", "ec_number_list": [ { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0070325 lipoprotein particle receptor binding;GO:0048018 receptor ligand activity;GO:0070326 very-low-density lipoprotein particle receptor binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0030425 dendrite", "go_biological_process": "GO:0097107 postsynaptic density assembly;GO:0051057 positive regulation of small GTPase mediated signal transduction;GO:0006508 proteolysis;GO:0007155 cell adhesion;GO:0008306 associative learning", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "P78509-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08116-1", "uniprot_id": [ { "id": "RGS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08116", "type": "external" } ], "mass": 23858.0, "length": 209, "protein_name": "Regulator of G protein signaling 1", "gene_name": "RGS1", "organism": "Human", "refseq_name": "regulator of G-protein signaling 1", "refseq_ac": [ { "id": "NP_002913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002913", "type": "external" } ], "gene_names_uniprotkb": "RGS1; 1R20; BL34; IER1", "gene_names_refseq": "1R20; BL34; HEL-S-87; IER1; IR20; RGS1", "protein_names_uniprotkb": "Regulator of G protein signaling 1; B-cell activation protein BL34; Early response protein 1R20; RGS1", "protein_names_refseq": "B-cell activation protein BL34; early response protein 1R20; epididymis secretory protein Li 87; immediate-early response 1, B-cell specific; regulator of G-protein signaling 1; regulator of G-protein signalling 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5996); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10191087;10480894;10567430;10727532;10861009;11007482;11015615;11742120;11753430;12120503;15951850;16182515;16268778;16339447;16634148;16754659;16923326;18434541;18515384;18577758;18936096;1905813;23481700;24715725;2534964;25576301;26154972;26375851;2748346;27846572;27862975;27920218;28218747;28228285;2834384;2841328;28514659;28832583;29242379;29437277;29508533;29632711;29786170;3086311;31217245;31844290;32157095;32502341;33141586;33298915;33691108;33717175;33936100;34211107;34561969;35051231;35580925;36284347;37340703;37735297;37850953;38264343;39015025;39173233;7937899;8015379;8241276;8406495;8473738;8664309;9305846;9770463", "class_list": "", "function": "RGS1 Modulates Autophagic and Metabolic Programs and Is a Critical Mediator of Human Regulatory T Cell Function., [RefSeq, PubMed]; RGS1 and CREB5 are direct and common transcriptional targets of ZNF384-fusion proteins., [RefSeq, PubMed]; RGS1 targeted by miR-191-3p inhibited the stemness properties of esophageal cancer cells by suppressing CXCR4/PI3K/AKT signaling., [RefSeq, PubMed]; Regulates G protein-coupled receptor signaling cascades, including signaling downstream of the N-formylpeptide chemoattractant receptors and leukotriene receptors (PubMed:10480894). Inhibits B cell chemotaxis toward CXCL12 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form (PubMed:10480894, PubMed:18434541)., [UniProtKB, UniProtKB, PubMed, PubMed]; Regulator of G protein signaling-1 regulates immune infiltration and macrophage polarization in clear cell renal cell carcinoma., [RefSeq, PubMed]; This gene encodes a member of the regulator of G-protein signalling family. This protein is located on the cytosolic side of the plasma membrane and contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signalling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. [provided by RefSeq, Jul 2008]., [RefSeq]; Tumor-intrinsic RGS1 potentiates checkpoint blockade response via ATF3-IFNGR1 axis. 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": 5, "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": "B2RDM9;B4DZY0;Q07918;Q9H1W2", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005516 calmodulin binding;GO:0001965 G-protein alpha-subunit binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0043547 positive regulation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q08116-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13278-1", "uniprot_id": [ { "id": "RIG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13278", "type": "external" } ], "mass": 11984.0, "length": 110, "protein_name": "Putative protein RIG", "gene_name": "RIG", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RIG", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein RIG; Protein regulated in glioma", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "9070656", "class_list": "", "function": "May serve as a molecular marker for or play a role in the malignant progression of glioblastomas., [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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q13278-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M5E4-1", "uniprot_id": [ { "id": "RGS21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M5E4", "type": "external" } ], "mass": 17671.0, "length": 152, "protein_name": "Regulator of G protein signaling 21", "gene_name": "RGS21", "organism": "Human", "refseq_name": "regulator of G-protein signaling 21", "refseq_ac": [ { "id": "NP_001034241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034241", "type": "external" } ], "gene_names_uniprotkb": "RGS21", "gene_names_refseq": "RGS21", "protein_names_uniprotkb": "Regulator of G protein signaling 21; RGS21", "protein_names_refseq": "regulator of G-protein signaling 21; regulator of G-protein signalling 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:431704); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 3, "publication_count": 34, "publication_id_list": "10191087;10567430;10727532;10861009;11007482;11015615;11742120;11753430;12120503;15951850;16182515;16268778;16302027;16339447;16634148;16754659;16923326;18434541;18515384;18577758;18936096;1905813;23095746;2534964;2748346;2834384;2841328;3086311;7937899;8015379;8406495;8664309;9305846;9770463", "class_list": "", "function": "Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form., [UniProtKB]; RGS21 mRNA is expressed ubiquitously in the 16 tissues examined, implying general physiological roles., [RefSeq, PubMed]; RGS21 modulates bitter taste signal transduction., [RefSeq, PubMed]; Regulator of G protein signaling (RGS) proteins are regulatory and structural components of G protein-coupled receptor complexes. RGS proteins are GTPase-activating proteins for Gi (see GNAI1; MIM 139310) and Gq (see GNAQ; MIM 600998) class G-alpha proteins. They accelerate transit through the cycle of GTP binding and hydrolysis and thereby accelerate signaling kinetics and termination.[supplied by OMIM, Nov 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": 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:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway;GO:0019226 transmission of nerve impulse;GO:0050913 sensory perception of bitter taste;GO:0050916 sensory perception of sweet taste", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q2M5E4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5EBL4-1", "uniprot_id": [ { "id": "RIPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5EBL4", "type": "external" } ], "mass": 47108.0, "length": 403, "protein_name": "RILP-like protein 1", "gene_name": "RILPL1", "organism": "Human", "refseq_name": "RILP-like protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001306173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306173", "type": "external" } ], "gene_names_uniprotkb": "RILPL1; RLP1", "gene_names_refseq": "GOSPEL; OPDM4; RILPL1; RLP1", "protein_names_uniprotkb": "RILP-like protein 1; Rab-interacting lysosomal-like protein 1", "protein_names_refseq": "GAPDH competitor of SIAH protein enhances life; RILP-like protein 1 isoform 3; RILP-like protein 1", "tax_id": 9606, "disease": "oculopharyngodistal myopathy 4 (Disease Ontology:DOID:0081300)", "pathway": " (hsa:353116)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;14668488;18669648;20068231;23186163;23301498;23481700;25418920;25576301;25645385;27282776;27397612;27600516;27920218;28832583;28834231;28904123;29125462;29242379;29557506;29786170;30315122;30398148;30429286;31428781;31844290;32157095;32357974;32488085;32938616;33141586;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34405274;35051231;35148830;35318648;35580925;36010968;37864208;37938771", "class_list": "", "function": "A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy. Publication Status: Online-Only, [RefSeq, PubMed]; NAD(+) inhibited both GAPDH aggregation and co-aggregation with GOSPEL, a hitherto undescribed effect of the coenzyme against the consequences of oxidative stress., [RefSeq, PubMed]; Pathogenic LRRK2 causes the centrosomal accumulation not only of phosho-RAB8 but also of phospho-RAB10, and the effects on centrosomal cohesion are dependent on RAB8, RAB10 and RILPL1., [RefSeq, PubMed]; Plays a role in the regulation of cell shape and polarity (By similarity). Plays a role in cellular protein transport, including protein transport away from primary cilia (By similarity). Neuroprotective protein, which acts by sequestring GAPDH in the cytosol and prevent the apoptotic function of GAPDH in the nucleus (By similarity). Competes with SIAH1 for binding GAPDH (By similarity). Does not regulate lysosomal morphology and distribution (PubMed:14668488). Binds to RAB10 following LRRK2-mediated RAB10 phosphorylation which leads to inhibition of ciliogenesis (PubMed:30398148)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4., [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": 10, "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": "Q66K36;Q8N1M0", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0031267 small GTPase binding;GO:0051959 dynein light intermediate chain binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005929 cilium;GO:0016020 membrane", "go_biological_process": "GO:0007263 nitric oxide mediated signal transduction;GO:0060271 cilium assembly;GO:0003382 epithelial cell morphogenesis;GO:1903445 protein transport from ciliary membrane to plasma membrane;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q5EBL4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZV50-1", "uniprot_id": [ { "id": "RFX8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZV50", "type": "external" } ], "mass": 66266.0, "length": 586, "protein_name": "DNA-binding protein RFX8", "gene_name": "RFX8", "organism": "Human", "refseq_name": "DNA-binding protein RFX8 isoform 1", "refseq_ac": [ { "id": "NP_001139136", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139136", "type": "external" } ], "gene_names_uniprotkb": "RFX8", "gene_names_refseq": "RFX8", "protein_names_uniprotkb": "DNA-binding protein RFX8; Regulatory factor X 8", "protein_names_refseq": "DNA-binding protein RFX8 isoform 1; DNA-binding protein RFX8; RFX family member 8, lacking RFX DNA binding domain; regulatory factor X, 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:731220)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;29557506;30192525;30379171;31844290;35051231", "class_list": "", "function": "May be a transcription factor., [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": 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": "B4DQ32", "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", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZV50-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5W9-1", "uniprot_id": [ { "id": "RFLB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5W9", "type": "external" } ], "mass": 22882.0, "length": 214, "protein_name": "Refilin-B", "gene_name": "RFLNB", "organism": "Human", "refseq_name": "refilin-B", "refseq_ac": [ { "id": "NP_874364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_874364", "type": "external" } ], "gene_names_uniprotkb": "RFLNB", "gene_names_refseq": "CFM1; FAM101B; RFLNB", "protein_names_uniprotkb": "Refilin-B; RefilinB; Regulator of filamin protein B", "protein_names_refseq": "family with sequence similarity 101, member B; filamin-interacting protein FAM101B; protein FAM101B; refilin-B; refilinB; regulator of filamin protein B", "tax_id": 9606, "disease": "", "pathway": " (hsa:359845)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "20058876;23186163;25418920;28904123;30410026;32157095;32387766;32488085;33298915;34171305;35051231", "class_list": "", "function": "Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements., [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": 4, "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:0031005 filamin binding", "go_cellular_component": "GO:0015629 actin cytoskeleton;GO:0032432 actin filament bundle", "go_biological_process": "GO:1900158 negative regulation of bone mineralization involved in bone maturation;GO:0061572 actin filament bundle organization;GO:0048705 skeletal system morphogenesis;GO:0061182 negative regulation of chondrocyte development", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8N5W9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9B8-1", "uniprot_id": [ { "id": "RGF1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9B8", "type": "external" } ], "mass": 54556.0, "length": 481, "protein_name": "Ras-GEF domain-containing family member 1A", "gene_name": "RASGEF1A", "organism": "Human", "refseq_name": "ras-GEF domain-containing family member 1A isoform 1", "refseq_ac": [ { "id": "NP_001269791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269791", "type": "external" } ], "gene_names_uniprotkb": "RASGEF1A", "gene_names_refseq": "CG4853; RASGEF1A", "protein_names_uniprotkb": "Ras-GEF domain-containing family member 1A", "protein_names_refseq": "CG4853 gene product; ras-GEF domain-containing family member 1A isoform 1; ras-GEF domain-containing family member 1A", "tax_id": 9606, "disease": "", "pathway": " (hsa:221002); (R-HSA-5673001)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10508167;10869344;11027663;11090077;11136978;11237011;11313946;11546808;11702783;12032311;12094235;12121613;14506247;14707138;15356145;1545823;15546878;16627759;16684964;17121879;1716764;17998941;18775330;1898771;19279408;19645719;19920141;20478380;21102635;21372320;21779497;21779505;21993244;22569528;22589270;22750304;23103841;23303910;23443682;23575685;24897931;24937142;25219551;25781681;26085527;28778966;29242379;30429286;31135801;36404533;6148751;7809086;7935463;7972015;8052307;8394845;8493579;8665852;8710374;8939933;9604935;9927426", "class_list": "", "function": "Analyzed residues that allow RasGEF1 proteins to discriminate between Rap1 and Rap2, and identified Phe39 in the switch I region of Rap2 as a specificity residue., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) with specificity for RAP2A, KRAS, HRAS, and NRAS (in vitro). Plays a role in cell migration., [UniProtKB, PubMed, PubMed]; The prognostic value of RASGEF1A RNA expression and DNA methylation in cytogenetically normal acute myeloid 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": 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": "Q8TBF1", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0016477 cell migration;GO:0007265 Ras protein signal transduction;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8N9B8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHV9-1", "uniprot_id": [ { "id": "RHXF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHV9", "type": "external" } ], "mass": 20542.0, "length": 184, "protein_name": "Rhox homeobox family member 1", "gene_name": "RHOXF1", "organism": "Human", "refseq_name": "rhox homeobox family member 1", "refseq_ac": [ { "id": "NP_644811", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_644811", "type": "external" } ], "gene_names_uniprotkb": "RHOXF1; OTEX; PEPP1", "gene_names_refseq": "OTEX; PEPP1; RHOXF1", "protein_names_uniprotkb": "Rhox homeobox family member 1; Ovary-, testis- and epididymis-expressed gene protein; Paired-like homeobox protein PEPP-1", "protein_names_refseq": "PEPP subfamily gene 1; ovary-, testis- and epididymis-expressed gene protein; paired-like homeobox protein PEPP-1; rhox homeobox family member 1", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); non-syndromic X-linked intellectual disability 1 (Disease Ontology:DOID:0112038)", "pathway": " (hsa:158800)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11980563;12490318;26506222;28171660;38258527", "class_list": "", "function": "Cloning and characterization of human OTEX, [RefSeq, PubMed]; Deleterious variants in X-linked RHOXF1 cause male infertility with oligo- and azoospermia., [RefSeq, PubMed]; This gene is a member of the PEPP subfamily of paired-like homoebox genes. The gene may be regulated by androgens and epigenetic mechanisms. The encoded nuclear protein is likely a transcription factor that may play a role in human reproduction. [provided by RefSeq, Dec 2012]., [RefSeq]; Transcription factor maybe involved in reproductive processes. Modulates expression of target genes encoding proteins involved in processes relevant to spermatogenesis., [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": 8, "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": "O95030;Q3SYE0", "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: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:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0010628 positive regulation of gene expression;GO:0006355 regulation of DNA-templated transcription;GO:0030521 androgen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NHV9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWE0-3", "uniprot_id": [ { "id": "REPI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWE0", "type": "external" } ], "mass": 63575.0, "length": 567, "protein_name": "DNA-binding protein REPIN1", "gene_name": "REPIN1", "organism": "Human", "refseq_name": "DNA-binding protein REPIN1 isoform 3", "refseq_ac": [ { "id": "NP_001093165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093165", "type": "external" } ], "gene_names_uniprotkb": "REPIN1; RIP60; ZNF464", "gene_names_refseq": "AP4; REPIN1; RIP60; ZNF464; Zfp464", "protein_names_uniprotkb": "DNA-binding protein REPIN1; 60 kDa origin-specific DNA-binding protein; 60 kDa replication initiation region protein; ATT-binding protein; DHFR oribeta-binding protein RIP60; Zinc finger protein 464", "protein_names_refseq": "60 kDa origin-specific DNA-binding protein; 60 kDa replication initiation region protein; ATT-binding protein; DHFR oribeta-binding protein RIP60; DNA-binding protein REPIN1 isoform 3; DNA-binding protein REPIN1; H_DJ0584D14.12; replication initiation region protein (60kD); zinc finger protein 464 (RIP60); zinc finger protein AP4", "tax_id": 9606, "disease": "", "pathway": " (hsa:29803)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10606657;11328883;16964243;18669648;18691976;19608861;19651622;20068231;20727851;2174103;2247056;23186163;23481700;24715725;25576301;26992070;27846572;28904123;29493099;29557506;29915365;29979259;30429286;31154438;31844290;31922994;32157095;32265295;32350084;32387766;32502341;32897882;32938616;32983136;33298915;33339069;33592498;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35251023;35561310;36010968;37749079;37938771;38665916;8355269", "class_list": "", "function": "A Human REPIN1 Gene Variant: Genetic Risk Factor for the Development of Nonalcoholic Fatty Liver Disease., [RefSeq, PubMed]; Increased expression of hsa-mir-127 and decreased expression of REPIN1 were both associated with poor overall survival, [RefSeq, PubMed]; Overexpression of miR-127 Predicts Poor Prognosis and Contributes to the Progression of Papillary Thyroid Cancer by Targeting REPIN1., [RefSeq, PubMed]; REPIN1 regulates iron metabolism and osteoblast apoptosis in osteoporosis. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific double-stranded DNA-binding protein (PubMed:10606657, PubMed:11328883, PubMed:2174103, PubMed:2247056, PubMed:8355269). Binds ATT-rich and T-rich DNA sequences and facilitates DNA bending (PubMed:10606657, PubMed:11328883, PubMed:2174103, PubMed:2247056, PubMed:8355269). May regulate the expression of genes involved in cellular fatty acid import, including SCARB1/CD36, and genes involved in lipid droplet formation (By similarity). May regulate the expression of LCN2, and thereby influence iron metabolism and apoptosis-related pathways (By similarity). May regulate the expression of genes involved in glucose transport (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "C9J3L7;D3DWZ1;Q7LE03;Q9BUZ6;Q9NZH2;Q9UMP5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;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:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:2000191 regulation of fatty acid transport", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9BWE0-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBH5-1", "uniprot_id": [ { "id": "RDH14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBH5", "type": "external" } ], "mass": 36865.0, "length": 336, "protein_name": "Retinol dehydrogenase 14", "gene_name": "RDH14", "organism": "Human", "refseq_name": "retinol dehydrogenase 14", "refseq_ac": [ { "id": "NP_065956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065956", "type": "external" } ], "gene_names_uniprotkb": "RDH14; PAN2; PRO1072; SDR7C4", "gene_names_refseq": "PAN2; RDH14; SDR7C4", "protein_names_uniprotkb": "Retinol dehydrogenase 14; 1.1.1.300; Alcohol dehydrogenase PAN2; Short chain dehydrogenase/reductase family 7C member 4", "protein_names_refseq": "alcohol dehydrogenase PAN2; pancreas protein 2; retinol dehydrogenase 14 (all-trans and 9-cis); retinol dehydrogenase 14 (all-trans/9-cis/11-cis); retinol dehydrogenase 14; short chain dehydrogenase/reductase family 7C member 4", "tax_id": 9606, "disease": "Leber congenital amaurosis (Disease Ontology:DOID:14791)", "pathway": " (hsa:57665); (R-HSA-5365859)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;10329026;10369264;10839978;11007799;11245473;12036956;12226107;12435598;12680773;12975309;14532297;14596915;18039331;18805086;1889753;20068231;20801113;20877624;21529158;21621639;21851338;22019272;22424782;23220587;23481700;24715725;25418920;26154972;26929215;26992070;27600516;27920218;28834231;28904123;2935875;29393594;29557506;29632046;3013304;30315122;31844290;32350084;32938616;33141586;33936100;33968037;34357683;34848785;35051231;35083852;35132862;8493914;9228021;9677409;9705317", "class_list": "", "function": "Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14. Publication Status: Online-Only, [RefSeq, PubMed]; Kinetic constants and expression pattern of PAN2 suggest that it is likely to function as a reductase in vivo and might contribute to the reduction of retinaldehyde to retinol in most human tissues, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol. Shows a very weak activity towards 13-cis-retinol. Has no activity towards steroid., [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": 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": 3, "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": "", "ec_number_list": [ { "id": "1.1.1.300", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.300", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "1.1.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.64", "type": "external" }, { "id": "1.1.1.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.54", "type": "external" }, { "id": "1.1.1.216", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.216", "type": "external" }, { "id": "1.1.1.21", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.21", "type": "external" }, { "id": "1.1.1.372", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.372", "type": "external" }, { "id": "1.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.357", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.188", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.188", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.210", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.210", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" } ], "go_molecular_function": "GO:0052650 all-trans-retinol dehydrogenase (NADP+) activity;GO:0102354 11-cis-retinol dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9HBH5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS39-1", "uniprot_id": [ { "id": "RED2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS39", "type": "external" } ], "mass": 80621.0, "length": 739, "protein_name": "Inactive double-stranded RNA-specific editase B2", "gene_name": "ADARB2", "organism": "Human", "refseq_name": "inactive double-stranded RNA-specific editase B2", "refseq_ac": [ { "id": "NP_061172", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061172", "type": "external" } ], "gene_names_uniprotkb": "ADARB2; ADAR3; RED2", "gene_names_refseq": "ADAR3; ADARB2; RED2", "protein_names_uniprotkb": "Inactive double-stranded RNA-specific editase B2; RNA-dependent adenosine deaminase 3; RNA-editing deaminase 2; RNA-editing enzyme 2; dsRNA adenosine deaminase B2", "protein_names_refseq": "RED2 homolog; RNA-dependent adenosine deaminase 3; RNA-editing deaminase 2; RNA-editing enzyme 2; adenosine deaminase, RNA-specific, B2 (RED1 homolog rat); adenosine deaminase, RNA-specific, B2 (RED2 homolog rat); adenosine deaminase, RNA-specific, B2 (non-functional); double-stranded RNA-specific editase B2; dsRNA adenosine deaminase B2; homolog of rat BLUE; inactive double-stranded RNA-specific editase B2", "tax_id": 9606, "disease": "", "pathway": " (hsa:105)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10836796;11237011;12618436;16385451;16959974;18178553;19617375;20068231;24715725;25418920;28167531;28228285;29242379;29557506;30315122;31552420;31844290;32357974;32938616;33298915;33592498;35051231;35494241;35850307;35922651;36010968;36305508;38802570", "class_list": "", "function": "ADAR3 activates NF-kappaB signaling and promotes glioblastoma cell resistance to temozolomide. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association study reveals a locus in ADARB2 for complete freedom from headache in Danish Blood Donors. Publication Status: Online-Only, [RefSeq, PubMed]; Novel ADAR3 binding sites discovered include the 3'-UTRs of the mRNAs encoding early growth response 1 (EGR1) and dual specificity phosphatase 1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RNA binding by ADAR3 inhibits adenosine-to-inosine editing and promotes expression of immune response protein MAVS., [RefSeq, PubMed]; Single- and double-stranded RNA-binding protein that interferes with the RNA editing activities of ADAR/ADAR1 and ADARB1/ADAR2. Likely competes with these proteins for target binding, repressing RNA editing across the transcriptome (PubMed:10836796, PubMed:28167531, PubMed:35850307). Additionally, it binds and stabilizes specific mRNAs and regulates the expression of proteins such as MAVS, DUSP1, and EGR1, independently of RNA editing mechanisms (PubMed:31552420, PubMed:35850307)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The allelic regulation of tumor suppressor ADARB2 in papillary thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the double-stranded RNA adenosine deaminase family of RNA-editing enzymes and may play a regulatory role in RNA editing. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 23, "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": "B2RPJ5;Q5VUT6;Q5VW42", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008251 tRNA-specific adenosine deaminase activity;GO:0046872 metal ion binding;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006396 RNA processing;GO:0006397 mRNA processing;GO:0070935 3'-UTR-mediated mRNA stabilization;GO:0090367 negative regulation of mRNA modification;GO:0006382 adenosine to inosine editing", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9NS39-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P82909-1", "uniprot_id": [ { "id": "KGD4_HUMAN", "url": "https://www.uniprot.org/uniprot/P82909", "type": "external" } ], "mass": 11466.0, "length": 103, "protein_name": "Alpha-ketoglutarate dehydrogenase component 4", "gene_name": "KGD4", "organism": "Human", "refseq_name": "alpha-ketoglutarate dehydrogenase component 4", "refseq_ac": [ { "id": "NP_150597", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_150597", "type": "external" } ], "gene_names_uniprotkb": "KGD4; DC47; MRPS36", "gene_names_refseq": "DC47; KGD4; MRP-S36; MRPS36", "protein_names_uniprotkb": "Alpha-ketoglutarate dehydrogenase component 4; Alpha-ketoglutarate dehydrogenase subunit 4", "protein_names_refseq": "28S ribosomal protein S36, mitochondrial; S36mt; alpha-ketoglutarate dehydrogenase component 4; mitochondrial ribosomal protein S36", "tax_id": 9606, "disease": "", "pathway": " (hsa:92259); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-6783984); (R-HSA-9853506); (R-HSA-9937383)", "pathway_count": 7, "publication_count": 86, "publication_id_list": "11237011;11279123;15358359;15946682;16051266;16263718;17803939;18429816;18669648;18782833;19524667;1959641;19651622;19716793;1993704;20068231;20186120;2025283;20877624;21907147;22172991;2250005;23186163;23481700;24275569;24495017;25210035;25233460;25469497;25838379;26992070;27029019;28121444;28228285;28435050;28657654;28832583;28834231;28892042;28904123;29237092;29242379;29393594;29557506;29632046;30059200;30315122;30429286;30484775;30524438;30620550;30929736;31154438;31217245;31373491;31492838;31611695;31844290;32157095;32161166;32265295;32897882;32938616;33243891;33717175;33878294;33912179;34171305;35051231;35254053;35272141;35289036;35513511;35580925;36215666;36241641;36284347;36302763;36596788;37141370;37541260;37938771;39531497;6469978;8076640;9242632", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]., [RefSeq]; Molecular adapter that is necessary to form a stable 2-oxoglutarate dehydrogenase enzyme complex (OGDHC). Enables the specific recruitment of E3 subunit to E2 subunit in the 2-oxoglutarate dehydrogenase complex (OGDHC)., [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": 4, "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": "Q9H2H4", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045252 oxoglutarate dehydrogenase complex", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006103 2-oxoglutarate metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "P82909-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15514-1", "uniprot_id": [ { "id": "RPB4_HUMAN", "url": "https://www.uniprot.org/uniprot/O15514", "type": "external" } ], "mass": 16311.0, "length": 142, "protein_name": "DNA-directed RNA polymerase II subunit RPB4", "gene_name": "POLR2D", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB4", "refseq_ac": [ { "id": "NP_004796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004796", "type": "external" } ], "gene_names_uniprotkb": "POLR2D", "gene_names_refseq": "HSRBP4; HSRPB4; POLR2D; RBP4; RPB16; RPB4", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB4; DNA-directed RNA polymerase II subunit D; RNA polymerase II 16 kDa subunit; RNA polymerase II subunit B4; RPB16", "protein_names_refseq": "DNA-directed RNA polymerase II 16 kDa polypeptide; DNA-directed RNA polymerase II subunit D; DNA-directed RNA polymerase II subunit RPB4; RNA polymerase II 16 kDa subunit; RNA polymerase II subunit B4; RNA polymerase II subunit hsRBP4; RNA polymerase II subunit hsRPB4; polymerase (RNA) II (DNA directed) polypeptide D; polymerase (RNA) II subunit D", "tax_id": 9606, "disease": "", "pathway": " (hsa:5433); (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": 606, "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. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. POLR2D/RPB4 is part of a subcomplex with POLR2G/RPB7 that binds to a pocket formed by POLR2A/RPB1, POLR2B/RPB2 and POLR2F/RPABC2 at the base of the clamp element. The POLR2D/RPB4-POLR2G/RPB7 subcomplex seems to lock the clamp via POLR2G/RPB7 in the closed conformation thus preventing double-stranded DNA to enter the active site cleft. The POLR2D/RPB4-POLR2G/RPB7 subcomplex binds single-stranded DNA and RNA., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes the fourth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit is associated with the polymerase under suboptimal growth conditions and may have a stress protective role. A sequence for a ribosomal pseudogene is contained within the 3' untranslated region of the transcript from 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": 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": 9545, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q52LT4", "ec_number_list": [], "go_molecular_function": "GO:0000166 nucleotide binding;GO:0031369 translation initiation factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;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:0006352 DNA-templated transcription initiation", "synthesized_glycan_count": 0, "hit_score": 61.1, "record_id": "O15514-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46783-1", "uniprot_id": [ { "id": "RS10_HUMAN", "url": "https://www.uniprot.org/uniprot/P46783", "type": "external" } ], "mass": 18898.0, "length": 165, "protein_name": "Small ribosomal subunit protein eS10", "gene_name": "RPS10", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS10", "refseq_ac": [ { "id": "NP_001005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005", "type": "external" } ], "gene_names_uniprotkb": "RPS10", "gene_names_refseq": "DBA9; RPS10; S10; eS10", "protein_names_uniprotkb": "Small ribosomal subunit protein eS10; 40S ribosomal protein S10", "protein_names_refseq": "40S ribosomal protein S10; small ribosomal subunit protein eS10", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 9 (Disease Ontology:DOID:0111884)", "pathway": " (hsa:6204); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 312, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15345747;15385533;15534230;15546618;15592455;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17016520;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17389395;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18669648;18974281;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19664994;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20116044;20159986;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22174690;22190735;22195017;22424782;22544926;22645359;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25469497;25502872;25505266;25525153;25576301;25645385;25969445;26024233;26154972;26237581;26375851;26758079;26992070;27452731;27526673;27600516;27846572;27920218;28063628;28065601;28132843;28218747;28228285;28510447;28685749;28832583;28834231;28855257;28860189;29242379;29314611;29317506;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632711;30192525;30293783;30315122;30410026;30524438;30779550;30804176;30833945;31154438;31530632;31611695;31844290;31848261;31937595;31981475;31998317;32011234;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33091337;33123756;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34315815;34357683;34373319;34405274;34433824;34509645;34561969;34624207;34932366;35051231;35138101;35154160;35251023;35318648;35580925;36010968;36215666;36241641;36284347;36302773;36445135;36610391;37217939;37376976;37751929;37938771;38665916;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7772601;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the 40S ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399)., [UniProtKB, PubMed]; Component of the 40S ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations. Review article, [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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10E family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Alternate splicing results in multiple transcript variants that encode the same protein. Naturally occurring read-through transcription occurs between this locus and the neighboring locus NUDT3 (nudix (nucleoside diphosphate linked moiety X)-type motif 3).[provided by RefSeq, Feb 2011]., [RefSeq]; Znf598-mediated Rps10/eS10 ubiquitination contributes to the ribosome ubiquitination dynamics during zebrafish development., [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": 3, "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": "B2R4E3;Q5TZC0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006412 translation;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 31.5, "record_id": "P46783-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62917-1", "uniprot_id": [ { "id": "RL8_HUMAN", "url": "https://www.uniprot.org/uniprot/P62917", "type": "external" } ], "mass": 28025.0, "length": 257, "protein_name": "Large ribosomal subunit protein uL2", "gene_name": "RPL8", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL2", "refseq_ac": [ { "id": "NP_000964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000964", "type": "external" } ], "gene_names_uniprotkb": "RPL8", "gene_names_refseq": "L8; RPL8; uL2", "protein_names_uniprotkb": "Large ribosomal subunit protein uL2; 60S ribosomal protein L8", "protein_names_refseq": "60S ribosomal protein L8; large ribosomal subunit protein uL2", "tax_id": 9606, "disease": "Diamond-Blackfan anemia (Disease Ontology:DOID:1339)", "pathway": " (hsa:6132); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9629569); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 18, "publication_count": 345, "publication_id_list": "10358005;10501844;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11929586;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12962325;1378441;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15104674;15317934;15385533;15534230;15546618;15592455;15676025;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16989641;17053788;17074750;17142313;17189298;17267404;17308301;17352659;17353269;17363904;17412707;17726049;17803942;17893241;17947579;18065403;18066079;18166647;18230761;18256688;18285520;18369606;18423202;18438418;18447580;18447585;18455985;18524595;18539146;1856229;1856230;18566446;1861871;18657639;18974281;18991276;19060897;19106111;19117535;19150429;1922338;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19574390;19608919;19615748;19706539;19801658;19819225;19859661;19909264;20023408;20038530;20056613;2006156;20112406;20361218;20444697;20479275;20531386;20684070;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21060799;21063389;21097556;21145460;21419344;21740066;21872626;21993680;22072790;22121020;22190735;22195017;22851697;22916032;23085078;23103944;23217742;23234702;23269699;23303181;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24100311;24424021;24486019;24524803;24550447;24550462;24550463;24550520;24714562;24715725;25132172;25242263;25418920;25469497;25502872;25525153;25576301;25578875;25645385;25728928;25810538;25880248;25892735;25969445;26154972;26237581;26375851;26552660;26728094;26758079;26992070;27397612;27452731;27526673;27543614;27600516;27655845;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28685749;28832583;28834231;28860189;28904123;29242379;29314611;29331515;29393594;29413899;29493099;29508533;29557506;29563586;29632046;29632312;29632711;29769354;29786170;29789417;29914368;29915238;30244831;30293783;30315122;30429286;30444036;30484775;30524438;30573663;30779550;30804176;30833945;31011209;31154438;31217245;31222486;31492838;31530632;31611695;31844290;31848261;31937595;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32669547;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33406423;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34509645;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35526384;35561310;35580925;36010968;36017842;36215666;36241641;36284347;36302773;36577883;36581221;37217939;37676773;37938771;38665916;39395807;39990658;40596516;40914422;40930100;429297;592398;592399;641056;6568109;6688526;6901506;7506540;7990965;8336711;8407925;8760827;8813735;8890909;9029102;9211906;9431993;9482744;9531480;9582194;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, PubMed, PubMed, PubMed]; Integrative Multi-Omics Analysis of Identified Ferroptosis-Marker RPL8 as a Candidate Oncogene Correlates with Poor Prognosis and Immune Infiltration in Liver Cancer., [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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L2P family of ribosomal proteins. It is located in the cytoplasm. In rat, the protein associates with the 5.8S rRNA, very likely participates in the binding of aminoacyl-tRNA, and is a constituent of the elongation factor 2-binding site at the ribosomal subunit interface. Alternatively spliced transcript variants encoding the same protein exist. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Silencing RPL8 inhibits the progression of hepatocellular carcinoma by down-regulating the mTORC1 signalling 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": 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": 2, "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": "A8K094;D3DWN2;P25120;Q567Q7;Q969V7;Q9BWQ9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 35.0, "record_id": "P62917-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12271-1", "uniprot_id": [ { "id": "RLBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P12271", "type": "external" } ], "mass": 36474.0, "length": 317, "protein_name": "Retinaldehyde-binding protein 1", "gene_name": "RLBP1", "organism": "Human", "refseq_name": "retinaldehyde-binding protein 1", "refseq_ac": [ { "id": "NP_000317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000317", "type": "external" } ], "gene_names_uniprotkb": "RLBP1; CRALBP", "gene_names_refseq": "CRALBP; RLBP1", "protein_names_uniprotkb": "Retinaldehyde-binding protein 1; Cellular retinaldehyde-binding protein", "protein_names_refseq": "cellular retinaldehyde-binding protein-1; retinaldehyde-binding protein 1", "tax_id": 9606, "disease": "Bothnia retinal dystrophy (Disease Ontology:DOID:0050683); Newfoundland cone-rod dystrophy (Disease Ontology:DOID:0111015); retinitis pigmentosa (Disease Ontology:DOID:10584); fundus albipunctatus (Disease Ontology:DOID:11105); night blindness (Disease Ontology:DOID:8499)", "pathway": " (hsa:6017); (R-HSA-2187335); (R-HSA-2453902); (R-HSA-9918438)", "pathway_count": 4, "publication_count": 66, "publication_id_list": "10075733;10102298;10102299;10369264;10617778;10753906;11053295;11078852;11123914;11153648;11237011;11274389;11453974;11868161;12036956;12177057;12367507;12407145;15314061;15471866;15865448;16106050;16128572;17255476;1742276;19049981;1925597;19309693;19781940;19846785;20192770;21493626;21774515;22665496;2303470;23143414;23905688;24799687;2542268;27600516;28096191;2937147;3170584;3198595;32188692;32587456;34115091;34410188;3485310;38253038;4772407;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8884265;9326942;9490294;9541407;9703434;9705317;9920938", "class_list": "", "function": "Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. Publication Status: Online-Only, [RefSeq, PubMed]; Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice., [RefSeq, PubMed]; Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium., [RefSeq, PubMed]; Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'., [UniProtKB, PubMed]; The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens., [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": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R667", "ec_number_list": [], "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0019841 retinol binding;GO:0005502 11-cis retinal binding", "go_cellular_component": "GO:0005829 cytosol;GO:0044297 cell body", "go_biological_process": "GO:0007601 visual perception;GO:0006776 vitamin A metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "P12271-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P82933-1", "uniprot_id": [ { "id": "RT09_HUMAN", "url": "https://www.uniprot.org/uniprot/P82933", "type": "external" } ], "mass": 45835.0, "length": 396, "protein_name": "Small ribosomal subunit protein uS9m", "gene_name": "MRPS9", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS9m", "refseq_ac": [ { "id": "NP_872578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872578", "type": "external" } ], "gene_names_uniprotkb": "MRPS9; RPMS9", "gene_names_refseq": "MRP-S9; MRPS9; RPMS9; S9mt; uS9m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS9m; 28S ribosomal protein S9, mitochondrial; MRP-S9; S9mt", "protein_names_refseq": "28S ribosomal protein S9, mitochondrial; mitochondrial small ribosomal subunit protein uS9m; small ribosomal subunit protein uS9m", "tax_id": 9606, "disease": "", "pathway": " (hsa:64965); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 73, "publication_id_list": "11237011;11279123;15358359;17803939;18083107;18429816;18782833;19524667;19608861;19716793;20068231;20186120;21907147;21993680;22172991;2250005;23481700;24715725;25233460;25418920;25838379;26154972;26375851;26811146;26929215;26992070;27029019;27846572;27920218;28063628;28218747;28228285;28510447;28832583;28834231;28892042;28904123;29242379;29393594;29437277;29632046;29632711;30315122;30379171;30410026;30779550;31217245;31844290;32265295;32387766;32488085;32502341;32938616;32983136;33243891;33592498;33717175;33878294;33912179;33981976;34087483;34171305;34229054;34357683;35051231;35580925;36302763;36596788;37141370;37217939;38381220;40307207;40596516", "class_list": "", "function": "MRPS9-Mediated Regulation of the PI3K/Akt/mTOR Pathway Inhibits Neuron Apoptosis and Protects Ischemic Stroke. Publication Status: Online-Only, [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit 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": 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": 9, "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": "Q6PG40", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P82933-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75526-1", "uniprot_id": [ { "id": "RMXL2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75526", "type": "external" } ], "mass": 42814.0, "length": 392, "protein_name": "RNA-binding motif protein, X-linked-like-2", "gene_name": "RBMXL2", "organism": "Human", "refseq_name": "RNA-binding motif protein, X-linked-like-2", "refseq_ac": [ { "id": "NP_055284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055284", "type": "external" } ], "gene_names_uniprotkb": "RBMXL2; HNRNPGT", "gene_names_refseq": "HNRNPG-T; HNRNPGT; HNRPGT; RBMXL2", "protein_names_uniprotkb": "RNA-binding motif protein, X-linked-like-2; Testis-specific heterogeneous nuclear ribonucleoprotein G-T; hnRNP G-T", "protein_names_refseq": "RNA binding motif protein, X-linked like 2; RNA-binding motif protein, X-linked-like-2; heterogeneous nuclear ribonucleoprotein G T; hnRNP G-T; testes-specific heterogenous nuclear ribonucleoprotein G-T; testis-specific heterogeneous nuclear ribonucleoprotein G-T", "tax_id": 9606, "disease": "", "pathway": " (hsa:27288)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10958650;12389739;15302935;18669648;19415658;19651622;19893608;20068231;20607830;21327109;25645385;26992070;28228285;28649982;28832583;28834231;29242379;29393594;29493099;29557506;29786170;30192525;30524438;30779550;31154438;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33537174;33592498;33717175;33968037;34087483;34171305;34509645;35051231;35251023;35580925;36010968", "class_list": "", "function": "Germ cell-specific RBMY and hnRNP G-T proteins were more efficient in stimulating TLE4-T incorporation than somatically expressed hnRNP G protein., [RefSeq, PubMed]; Heterogeneous nuclear ribonucleoprotein G-T (hnRNP G-T) is a germ cell-specific protein expressed most prominently during meiosis, [RefSeq, PubMed]; Nuclear hnRNP G level as well as hTra2-beta1 level were independent prognostic factors for endometrial cancer progression-free survival, [RefSeq, PubMed]; RNA-binding protein involved in alternative splicing in the testis during spermatogenesis., [UniProtKB, PubMed]; The initial recruitment of hnRNP G to nascent pre-mRNAs is independent of its sequence-specific RNA binding properties., [RefSeq, PubMed]; This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [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": 16, "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": "Q6PEZ2;Q9NQU0", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0017069 snRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O75526-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25398-1", "uniprot_id": [ { "id": "RS12_HUMAN", "url": "https://www.uniprot.org/uniprot/P25398", "type": "external" } ], "mass": 14515.0, "length": 132, "protein_name": "Small ribosomal subunit protein eS12", "gene_name": "RPS12", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS12", "refseq_ac": [ { "id": "NP_001007", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007", "type": "external" } ], "gene_names_uniprotkb": "RPS12", "gene_names_refseq": "RPS12; S12; eS12", "protein_names_uniprotkb": "Small ribosomal subunit protein eS12; 40S ribosomal protein S12", "protein_names_refseq": "40S ribosomal protein S12; small ribosomal subunit protein eS12", "tax_id": 9606, "disease": "", "pathway": " (hsa:6206); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 250, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;1861993;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21740066;22072790;22121020;22174690;22190735;22195017;22223895;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23301498;23439679;23482395;23636399;23746841;2388630;24424021;24524803;24550520;25132172;25242263;25432065;25525153;25969445;26237581;27526673;27846572;27920218;28065601;28132843;28467828;28489076;28510447;28685749;28834231;28904123;29242379;29413899;29557506;29632711;30192525;30293783;30804176;31217245;31222486;31530632;31844290;32099016;32157095;32357974;32387766;32488085;32579943;32680882;32829153;32870666;32908316;32938616;32995776;32995777;33080218;33141586;33188728;33214551;33268501;33273532;33298915;33465208;33479166;33592498;33691108;33968037;33981976;34019948;34087483;34171305;34229054;34315815;34373319;34405274;34509645;34516797;34624207;34725712;35051231;35083852;35138101;36010968;36215666;36241641;36302773;36610391;38665916;40596516;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "HumanaFly: high-throughput transgenesis and expression of breast cancer transcripts in Drosophila eye discovers the RPS12-Wingless signaling axis. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular analysis of streptomycin-resistance associating genes in Mycobacterium tuberculosis isolates from Nepal., [RefSeq, PubMed]; 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). Subunit of the 40S ribosomal complex (By similarity)., [UniProtKB, PubMed, UniProtKB]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S12E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal cancers compared to matched normal colonic mucosa has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [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": 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": "Q76M58", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:0006412 translation;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:1990145 maintenance of translational fidelity;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 25.3, "record_id": "P25398-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P46781-1", "uniprot_id": [ { "id": "RS9_HUMAN", "url": "https://www.uniprot.org/uniprot/P46781", "type": "external" } ], "mass": 22591.0, "length": 194, "protein_name": "Small ribosomal subunit protein uS4", "gene_name": "RPS9", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS4 isoform a", "refseq_ac": [ { "id": "NP_001004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004", "type": "external" } ], "gene_names_uniprotkb": "RPS9", "gene_names_refseq": "RPS9; S9; uS4", "protein_names_uniprotkb": "Small ribosomal subunit protein uS4; 40S ribosomal protein S9", "protein_names_refseq": "40S ribosomal protein S9; small ribosomal subunit protein uS4 isoform a; small ribosomal subunit protein uS4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6203); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6790901); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 22, "publication_count": 324, "publication_id_list": "10358005;10364207;10606270;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11081632;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11935223;11964406;11978965;12068309;12150911;12417715;12417735;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15199136;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16381836;16452507;16469117;16601204;16622410;16630668;16738141;16782898;16912115;16959974;16989641;17053788;17142313;17189298;17267404;17289661;17352659;17353269;17363904;17412707;17636026;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18691976;18974281;19033376;19060897;19106111;19150429;19332556;19359157;19417104;19463982;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20047967;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22121020;22174690;22190735;22195017;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23391857;23439679;23481700;23482395;23636399;23746841;2388630;24086612;24366607;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25411247;25418920;25432065;25502872;25525153;25576301;25645385;25653167;25810538;25851604;25880248;25969445;26085946;26154972;26196125;26237581;26375851;26728094;26992070;27084949;27397612;27526673;27600516;27726376;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28685749;28832583;28834231;28904123;29242379;29331515;29393594;29413899;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30293783;30315122;30444036;30484775;30779550;30804176;31020640;31060671;31154438;31217245;31530632;31611695;31844290;31848261;31998317;32099016;32119511;32157095;32265295;32350084;32357974;32387766;32459848;32488085;32502341;32522876;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33080218;33091337;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34315815;34373319;34405274;34509645;34516797;34624207;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35580925;36241641;36284347;36302773;36610391;36758682;37217939;37938771;38665916;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7772601;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9211966;9431993;9482744;9512526;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). 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]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. 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., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Inhibition of RPS9 can promote apoptosis, cell cycle arrest, and proliferation of myeloma cells. RPS9 can affect the activation of NF-kappaB pathway and cell apoptosis through SENP1, [RefSeq, PubMed]; LAPTM4B promotes AML progression through regulating RPS9/STAT3 axis., [RefSeq, PubMed]; LncRNA BRCAT54 inhibits the tumorigenesis of non-small cell lung cancer by binding to RPS9 to transcriptionally regulate JAK-STAT and calcium pathway genes., [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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S4P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, multiple processed pseudogenes derived from this gene are dispersed through the genome. [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": 3, "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": "A9C4C1;Q4QRK7;Q9BVZ0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 32.7, "record_id": "P46781-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62424-1", "uniprot_id": [ { "id": "RL7A_HUMAN", "url": "https://www.uniprot.org/uniprot/P62424", "type": "external" } ], "mass": 29996.0, "length": 266, "protein_name": "Large ribosomal subunit protein eL8", "gene_name": "RPL7A", "organism": "Human", "refseq_name": "large ribosomal subunit protein eL8", "refseq_ac": [ { "id": "NP_000963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000963", "type": "external" } ], "gene_names_uniprotkb": "RPL7A; SURF-3; SURF3", "gene_names_refseq": "L7A; RPL7A; SURF3; TRUP; eL8", "protein_names_uniprotkb": "Large ribosomal subunit protein eL8; 60S ribosomal protein L7a; PLA-X polypeptide; Surfeit locus protein 3", "protein_names_refseq": "60S ribosomal protein L7a; PLA-X polypeptide; large ribosomal subunit protein eL8; surfeit 3; surfeit locus protein 3; thyroid hormone receptor uncoupling protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6130); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72689); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954709); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 17, "publication_count": 298, "publication_id_list": "10358005;10659855;1095581;10970870;10982836;11018020;11018027;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;1696715;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17507929;1756182;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18455985;18507432;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19859661;19909264;20023408;20038530;20056613;2006156;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22121020;22190735;22195017;22424782;22544926;22898188;22916032;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23685075;23746841;2388630;24397554;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25469497;25502872;25525153;25576301;25578875;25645385;25810538;25969445;26154972;26237581;26375851;26728094;26758079;26811146;26992070;27397612;27526673;27543614;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28514659;28685749;28832583;28834231;28855257;28904123;29242379;29371260;29393594;29413899;29493099;29508533;29557506;29632046;29632312;29632711;2966065;29786170;29789417;30244831;30293783;30315122;30444036;30524438;30779550;30804176;30833945;31011209;31020640;31217245;31222486;31611695;31844290;31848261;31937595;31998317;32099016;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32522876;32579943;32669547;32897882;32938616;32983136;33043033;33091337;33123756;33141586;33214551;33298915;33392160;33406423;33537174;33592498;33691108;33717175;33909987;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34725712;34932366;35008409;35051231;35083852;35138101;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36302773;37217939;37676773;37938771;38665916;40914422;40930100;429297;592398;592399;641056;6568109;6901506;7990965;8336711;8407925;8482538;8890909;9211906;9382929;9431993;9482744;9631292;9637248;9712840", "class_list": "", "function": "Component of the large ribosomal subunit (PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:32669547)., [UniProtKB, PubMed, PubMed]; Component of the ribosome., [UniProtKB, UniProtKB, UniProtKB]; Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L7AE family of ribosomal proteins. It can interact with a subclass of nuclear hormone receptors, including thyroid hormone receptor, and inhibit their ability to transactivate by preventing their binding to their DNA response elements. This gene is included in the surfeit gene cluster, a group of very tightly linked genes that do not share sequence similarity. It is co-transcribed with the U24, U36a, U36b, and U36c small nucleolar RNA genes, which are located in its second, fifth, fourth, and sixth introns, respectively. This gene rearranges with the trk proto-oncogene to form the chimeric oncogene trk-2h, which encodes an oncoprotein consisting of the N terminus of ribosomal protein L7a fused to the receptor tyrosine kinase domain of trk. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [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": 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": "P11518;Q5T8U4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0045296 cadherin binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007283 spermatogenesis;GO:0006412 translation;GO:0006941 striated muscle contraction;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 30.1, "record_id": "P62424-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62701-1", "uniprot_id": [ { "id": "RS4X_HUMAN", "url": "https://www.uniprot.org/uniprot/P62701", "type": "external" } ], "mass": 29598.0, "length": 263, "protein_name": "Small ribosomal subunit protein eS4, X isoform", "gene_name": "RPS4X", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS4, X isoform", "refseq_ac": [ { "id": "NP_000998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000998", "type": "external" } ], "gene_names_uniprotkb": "RPS4X; CCG2; RPS4; SCAR", "gene_names_refseq": "CCG2; DXS306; RPS4X; RPS4; S4; SCAR; SCR10; eS4", "protein_names_uniprotkb": "Small ribosomal subunit protein eS4, X isoform; 40S ribosomal protein S4; SCR10; Single copy abundant mRNA protein", "protein_names_refseq": "40S ribosomal protein S4; cell cycle gene 2; single copy abundant mRNA protein; single-copy abundant mRNA; small ribosomal subunit protein eS4, X isoform; small ribosomal subunit protein eS4", "tax_id": 9606, "disease": "", "pathway": " (hsa:6191); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 314, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11265756;11331269;11466336;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11929586;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15275975;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16112985;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17074750;17142313;17189298;17267404;17289661;17352659;17353269;17363904;17412707;17726049;17803942;17893241;1795030;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;18991276;19007248;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20068231;20112406;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;2124517;21419344;22072790;22121020;22174690;22190735;22195017;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25469497;25525153;25576301;25645385;25731206;25810538;25892735;25969445;26154972;26237581;26375851;26811146;26929215;26992070;27452731;27526673;27600516;27846572;27920218;28063628;28065601;28132843;28218747;28228285;2829364;28352266;28467828;28649982;28685749;28832583;28834231;28860189;28904123;29242379;29393594;29413899;29437277;29493099;29557506;29632046;29632711;29774024;29786170;29789417;30293783;30315122;30379171;30410026;30429286;30484775;30779550;30804176;31020640;31092671;31217245;31844290;32099016;32119511;32157095;32161166;32265295;32350084;32387766;32488085;32522876;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33091337;33188728;33214551;33268501;33298915;33392160;33429084;33479166;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34315815;34357683;34373319;34405274;34509645;34516797;34561969;34624207;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36610391;37217939;37938771;38665916;39199272;39395807;40596516;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). 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]; Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Lnc-Rps4l-encoded peptide RPS4XL regulates RPS6 phosphorylation and inhibits the proliferation of PASMCs caused by hypoxia. Erratum:[Mol Ther. 2024 Aug 7;32(8):2799. doi: 10.1016/j.ymthe.2024.06.032. PMID: 38959895], [RefSeq, PubMed]; Low RPS4X expression is associated with poor disease-specific and recurrence-free survival in bladder cancer, [RefSeq, PubMed]; Ribosomal Protein S4 X-Linked as a Novel Modulator of MDM2 Stability by Suppressing MDM2 Auto-Ubiquitination and SCF Complex-Mediated Ubiquitination. 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": 5, "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": "P12631;P12750;P27576;P55831;Q14727;Q6IPY4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0006412 translation;GO:0045727 positive regulation of translation;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 31.8, "record_id": "P62701-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63220-1", "uniprot_id": [ { "id": "RS21_HUMAN", "url": "https://www.uniprot.org/uniprot/P63220", "type": "external" } ], "mass": 9111.0, "length": 83, "protein_name": "Small ribosomal subunit protein eS21", "gene_name": "RPS21", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS21", "refseq_ac": [ { "id": "NP_001015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015", "type": "external" } ], "gene_names_uniprotkb": "RPS21", "gene_names_refseq": "HLDF; RPS21; S21; eS21", "protein_names_uniprotkb": "Small ribosomal subunit protein eS21; 40S ribosomal protein S21", "protein_names_refseq": "40S ribosomal protein S21; 8.2 kDa differentiation factor; human leukemia differentiation factor; small ribosomal subunit protein eS21", "tax_id": 9606, "disease": "", "pathway": " (hsa:6227); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 295, "publication_id_list": "10358005;10364207;10659855;10900511;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11465720;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11875025;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;12939341;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15104674;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17308301;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18160138;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19615748;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21872626;21993680;22072790;22174690;22190735;22195017;22223895;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23746841;2388630;24366607;24424021;24524803;24550520;24714562;25114211;25132172;25242263;25432065;25469497;25502872;25525153;25576301;25645385;25802875;25901680;25957688;25969445;26154972;26237581;26375851;26811146;26992070;27452731;27526673;27846572;27862975;28065601;28132843;28352266;28649982;28685749;28855257;28871256;28904123;29016636;29331515;29413899;29493099;29508533;29557506;30192525;30293783;30315122;30410026;30429286;30779550;30804176;30833945;31020640;31154438;31222486;31530632;31611695;31844290;31848261;31938910;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33141586;33188728;33214551;33268501;33479166;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34315815;34357683;34373319;34561969;34624207;34932366;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36241641;36284347;36302773;36610391;36825600;37938771;38665916;39395807;40930100;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7543776;7734418;7990965;8332502;8336711;8407925;8706699;8890909;8943342;8981922;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit (PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:25901680, PubMed:25957688)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, UniProtKB, UniProtKB]; HNF1A regulates oxaliplatin resistance in pancreatic cancer by targeting 53BP1., [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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S21E family of ribosomal proteins. It is located in the cytoplasm. Alternative splice variants that encode different protein isoforms have been described, but their existence has not been verified. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Serum Level of HLDF24 Peptide as an Objective Marker of Prehypertension., [RefSeq, PubMed]; The results show that RPS19, RPS21 or RPS24 are upregulated in malignant tissue and may serve as putative biomarkers for prostate 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "P35265", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005791 rough endoplasmic reticulum;GO:0005829 cytosol;GO:0045202 synapse", "go_biological_process": "GO:0000447 endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);GO:0006412 translation;GO:0002181 cytoplasmic translation;GO:0000461 endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 29.8, "record_id": "P63220-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14684-1", "uniprot_id": [ { "id": "RRP1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14684", "type": "external" } ], "mass": 84428.0, "length": 758, "protein_name": "Ribosomal RNA processing protein 1 homolog B", "gene_name": "RRP1B", "organism": "Human", "refseq_name": "ribosomal RNA processing protein 1 homolog B", "refseq_ac": [ { "id": "NP_055871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055871", "type": "external" } ], "gene_names_uniprotkb": "RRP1B; KIAA0179", "gene_names_refseq": "KIAA0179; NNP1L; Nnp1; PPP1R136; RRP1B; RRP1", "protein_names_uniprotkb": "Ribosomal RNA processing protein 1 homolog B; RRP1-like protein B", "protein_names_refseq": "RRP1-like protein B; protein phosphatase 1, regulatory subunit 136; ribosomal RNA processing 1 homolog B; ribosomal RNA processing protein 1 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23076)", "pathway_count": 1, "publication_count": 139, "publication_id_list": "12429849;16565220;16964243;17081983;17322306;17924679;18081427;18220336;18452278;18669648;18691976;19007248;19413330;19415658;19608861;19651622;19664994;19664995;19690332;19691289;19710015;20040599;20058876;20068230;20068231;20305658;20926688;21406692;22424782;22544926;22645359;23186163;23301498;23481700;23604122;24275569;24714562;24715725;25645385;25802875;25810538;26154972;26311876;26375851;26728094;26992070;27114449;27846572;27862975;27893789;27920218;28218747;28510447;28657654;28834231;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29786170;30059200;30315122;30379171;30429286;30484775;30524438;30620550;30779550;30833945;31154438;31217245;31492838;31530632;31611695;31844290;31848261;31937595;31998317;32119511;32157095;32350084;32357974;32387766;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33465208;33592498;33633747;33691108;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34357683;34509645;34561969;34846842;34932366;35051231;35083852;35132862;35251023;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36241641;36284347;37217939;37340703;37541260;37938771;38665916;38838015;39302247;39531497;39534244;40307207;40596516", "class_list": "", "function": "(Microbial infection) Following influenza A virus (IAV) infection, promotes viral mRNA transcription by facilitating the binding of IAV RNA-directed RNA polymerase to capped mRNA., [UniProtKB, PubMed]; Positively regulates DNA damage-induced apoptosis by acting as a transcriptional coactivator of proapoptotic target genes of the transcriptional activator E2F1 (PubMed:20040599). Likely to play a role in ribosome biogenesis by targeting serine/threonine protein phosphatase PP1 to the nucleolus (PubMed:20926688). Involved in regulation of mRNA splicing (By similarity). Inhibits SIPA1 GTPase activity (By similarity). Involved in regulating expression of extracellular matrix genes (By similarity). Associates with chromatin and may play a role in modulating chromatin structure (PubMed:19710015)., [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": 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": 29, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 28, "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": "Q8TBZ4", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006397 mRNA processing;GO:0043065 positive regulation of apoptotic process;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q14684-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JNZ5-1", "uniprot_id": [ { "id": "RS26L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JNZ5", "type": "external" } ], "mass": 13002.0, "length": 115, "protein_name": "Putative ribosomal protein eS26-like", "gene_name": "RPS26P11", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RPS26P11; RPS26L1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ribosomal protein eS26-like; Putative 40S ribosomal protein S26-like 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "Diamond-Blackfan anemia (Disease Ontology:DOID:1339)", "pathway": "", "pathway_count": 0, "publication_count": 8, "publication_id_list": "25810538;26154972;28904123;29557506;30484775;33091337;33392160;34357683", "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:0003729 mRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0022627 cytosolic small ribosomal subunit", "go_biological_process": "GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q5JNZ5-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TD94-1", "uniprot_id": [ { "id": "RSH4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TD94", "type": "external" } ], "mass": 80733.0, "length": 716, "protein_name": "Radial spoke head protein 4 homolog A", "gene_name": "RSPH4A", "organism": "Human", "refseq_name": "radial spoke head protein 4 homolog A isoform 1", "refseq_ac": [ { "id": "NP_001010892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010892", "type": "external" } ], "gene_names_uniprotkb": "RSPH4A; RSHL3", "gene_names_refseq": "CILD11; RSHL3; RSPH4A; RSPH6B; dJ412I7.1", "protein_names_uniprotkb": "Radial spoke head protein 4 homolog A; Radial spoke head-like protein 3", "protein_names_refseq": "radial spoke head 4 homolog A; radial spoke head protein 4 homolog A isoform 1; radial spoke head protein 4 homolog A; radial spoke head-like protein 3; radial spokehead-like 3", "tax_id": 9606, "disease": "primary ciliary dyskinesia 11 (Disease Ontology:DOID:0110602)", "pathway": " (hsa:345895)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "19200523;22448264;23798057;23993197;25186273;25789548;28939216;33852348;35051231;35494241;36768259", "class_list": "", "function": "A novel mutation causing primary ciliary dyskinesia was found in Japanese patients., [RefSeq, PubMed]; Absence of RSPH4A due to mutations in RSPH4A results in deficient axonemal assembly of the RS head components RSPH1 and RSPH9., [RefSeq, PubMed]; Component of the axonemal radial spoke head which plays an important role in ciliary motility (PubMed:19200523). Essential for triplet radial spokes (RS1, RS2 and RS3) head assembly in the motile cilia (By similarity)., [UniProtKB, PubMed, UniProtKB]; Mutations in RSPH4A leads to ultrastructural cilia defects and ciliary dyskinesia., [RefSeq, PubMed]; Structural insights into the cause of human RSPH4A primary ciliary dyskinesia., [RefSeq, PubMed]; The RSPH4A Gene in Primary Ciliary Dyskinesia. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The c.921+3_6delAAGT splice site mutation in RSPH4A is a founder mutation that is a common cause of PCD without situs abnormalities in patients of Hispanic Puerto Rican descent., [RefSeq, PubMed]; This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [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": 2, "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": "B4DSI1;Q3KP24;Q5TD95", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001534 radial spoke;GO:0005929 cilium;GO:0031514 motile cilium;GO:0005930 axoneme;GO:0097729 9+2 motile cilium", "go_biological_process": "GO:0060294 cilium movement involved in cell motility;GO:0003341 cilium movement;GO:0035082 axoneme assembly;GO:0062177 radial spoke assembly", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5TD94-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XPR3-1", "uniprot_id": [ { "id": "RPTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XPR3", "type": "external" } ], "mass": 90731.0, "length": 784, "protein_name": "Repetin", "gene_name": "RPTN", "organism": "Human", "refseq_name": "repetin", "refseq_ac": [ { "id": "NP_001116437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116437", "type": "external" } ], "gene_names_uniprotkb": "RPTN", "gene_names_refseq": "RPTN", "protein_names_uniprotkb": "Repetin", "protein_names_refseq": "intermediate filament-associated protein; repetin", "tax_id": 9606, "disease": "", "pathway": " (hsa:126638); (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;15854042;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;24715725;25613293;25926655;26390218;28219068;29935789;30379171;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Involved in the cornified cell envelope formation. Multifunctional epidermal matrix protein. Reversibly binds calcium., [UniProtKB]; Letter: RPTN gene is associated with straight hair in Europeans and East Asians. Genetics of straight hair may to some degree overlap between these two ancestry groups., [RefSeq, PubMed]; RPTN plays a potential role in emotional and cognitive processing; its decrease in serum may indicate its involvement in the pathogenesis of schizophrenia and bipolar disorder Publication Status: Online-Only, [RefSeq, PubMed]; The single-nucleotide polymorphisms of CRNN (rs941934) and RPTN (rs3001978, rs28441202) may contribute to Atopic Dermatitis development, but further studies on a larger group of Atopic Dermatitis patients are needed to verify this assumption., [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": 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": "B7ZBZ3", "ec_number_list": [], "go_molecular_function": "GO:0046914 transition metal ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q6XPR3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4K4-1", "uniprot_id": [ { "id": "RPRML_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4K4", "type": "external" } ], "mass": 12312.0, "length": 120, "protein_name": "Reprimo-like protein", "gene_name": "RPRML", "organism": "Human", "refseq_name": "reprimo-like protein", "refseq_ac": [ { "id": "NP_981945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_981945", "type": "external" } ], "gene_names_uniprotkb": "RPRML", "gene_names_refseq": "RPRML", "protein_names_uniprotkb": "Reprimo-like protein", "protein_names_refseq": "reprimo-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:388394)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "29941787;33322837", "class_list": "", "function": "Rawing on embryonic and adult expression patterns, we address the potential relevance of RPRM and RPRML in cancer. Active investigation or analytical research in the coming years should contribute to novel translational applications of this poorly understood gene family as potential biomarkers and development of novel cancer therapies. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The Reprimo-Like Gene Is an Epigenetic-Mediated Tumor Suppressor and a Candidate Biomarker for the Non-Invasive Detection of Gastric Cancer. GeneRIF: Our results suggest that RPRML is a TSG, downregulated by DNA methylation in GC, and that circulating methylated RPRML DNA can distinguish patients with GC from cancer-free controls. Thus, these findings provide justification for larger clinical studies to further assess its value in multi-biomarker panel approaches for non-invasive diagnosis of GC. 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": 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": 0.3, "record_id": "Q8N4K4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C74-1", "uniprot_id": [ { "id": "ROP1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C74", "type": "external" } ], "mass": 26107.0, "length": 230, "protein_name": "Ropporin-1-like protein", "gene_name": "ROPN1L", "organism": "Human", "refseq_name": "ropporin-1-like protein", "refseq_ac": [ { "id": "NP_001188395", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188395", "type": "external" } ], "gene_names_uniprotkb": "ROPN1L; ASP; RSPH11", "gene_names_refseq": "ASP; LINC01513; ROPN1L; RSPH11; TCONS_00009352", "protein_names_uniprotkb": "Ropporin-1-like protein; AKAP-associated sperm protein; ROPN1-like protein", "protein_names_refseq": "AKAP-associated sperm protein; ROPN1-like protein; long intergenic non-protein coding RNA 1513; radial spoke head 11 homolog; ropporin-1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83853)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11278869;21424380;24715725;27120127;29237092;30379171;37217939", "class_list": "", "function": "Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. Important for male fertility. With ROPN1, involved in fibrous sheath integrity and sperm motility, plays a role in PKA-dependent signaling processes required for spermatozoa capacitation., [UniProtKB, UniProtKB]; Single nucleotide polymorphisms in ROPN1L gene is associated with breast cancer., [RefSeq, PubMed]; This gene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Alternatively spliced transcript variants have been found for this gene. [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": 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": "D3DTC9;Q9BZX0", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0001534 radial spoke;GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005929 cilium;GO:0031514 motile cilium", "go_biological_process": "GO:0003351 epithelial cilium movement involved in extracellular fluid movement;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation;GO:0003341 cilium movement", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96C74-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96E11-1", "uniprot_id": [ { "id": "RRFM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96E11", "type": "external" } ], "mass": 29277.0, "length": 262, "protein_name": "Ribosome-recycling factor, mitochondrial", "gene_name": "MRRF", "organism": "Human", "refseq_name": "ribosome-recycling factor, mitochondrial isoform 3 precursor", "refseq_ac": [ { "id": "NP_001166983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166983", "type": "external" } ], "gene_names_uniprotkb": "MRRF", "gene_names_refseq": "MRFF; MRRF; MTRRF; RRF", "protein_names_uniprotkb": "Ribosome-recycling factor, mitochondrial; RRF; Ribosome-releasing factor, mitochondrial; mtRRF", "protein_names_refseq": "ribosome-recycling factor, mitochondrial isoform 3 precursor; ribosome-recycling factor, mitochondrial; ribosome-releasing factor, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:92399); (R-HSA-5419276)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11237011;17803939;18429816;18782833;19716793;20068231;20186120;22172991;25233460;25576301;28228285;28510447;28832583;29242379;30379171;31844290;32488085;33141586;33878294;33968037;34171305;34357683;36010968;36215666;36302763;36596788;37141370;39894887;40596516;9838146", "class_list": "", "function": "Depletion of mtRRF in human cell lines is lethal, initially causing profound mitochondrial dysmorphism, aggregation of mitoribosomes and elevated mitochondrial superoxide production., [RefSeq, PubMed]; EF-G2mt is an exclusive recycling factor in mammalian mitochondrial protein synthesis., [RefSeq, PubMed]; Responsible for the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis (PubMed:19716793, PubMed:33878294). Acts in collaboration with GFM2 (PubMed:33878294). Promotes mitochondrial ribosome recycling by dissolution of intersubunit contacts (PubMed:33878294)., [UniProtKB, PubMed, PubMed]; This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromosome X. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K6D8;A8K6Z4;B7Z4X5;B7Z6P7;Q5RKT1;Q5T7T0;Q5T7T1;Q5T7T2;Q5T7T3;Q5T7T4;Q5T7T5", "ec_number_list": [], "go_molecular_function": "GO:0043023 ribosomal large subunit binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0032790 ribosome disassembly;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q96E11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0F5-1", "uniprot_id": [ { "id": "RNF38_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0F5", "type": "external" } ], "mass": 57595.0, "length": 515, "protein_name": "E3 ubiquitin-protein ligase RNF38", "gene_name": "RNF38", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF38 isoform 1", "refseq_ac": [ { "id": "NP_073618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073618", "type": "external" } ], "gene_names_uniprotkb": "RNF38", "gene_names_refseq": "RNF38", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF38; 2.3.2.27; RING finger protein 38; RING-type E3 ubiquitin transferase RNF38", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF38 isoform 1; E3 ubiquitin-protein ligase RNF38; RING-type E3 ubiquitin transferase RNF38", "tax_id": 9606, "disease": "", "pathway": " (hsa:152006)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11230166;12074600;23481700;23646949;23973461;24714562;24715725;25505266;26154972;26728094;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29786170;30112836;30309654;30410026;30429286;31092671;31154438;31530632;31844290;31848261;32157095;32357974;32387766;32488085;32502341;32643846;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33717175;33912179;33968037;34460347;34509645;34932366;35051231;35568845;35580925;36010968;36252564;36284347;36598315", "class_list": "", "function": "Acts as an E3 ubiquitin-protein ligase able to ubiquitinate p53/TP53 which promotes its relocalization to discrete foci associated with PML nuclear bodies. Exhibits preference for UBE2D2 as a E2 enzyme., [UniProtKB, PubMed]; Cloning and characterization of the RNF38 gene, [RefSeq, PubMed]; Data show that E3 ubiquitin-protein ligase RNF38 (RNF38) interacts with the nonreceptor tyrosine phosphatase SH2-containing protein tyrosine phosphatase 1 (SHP-1) and induces the polyubiquitination of SHP-1, which leads to destabilization of SHP-1., [RefSeq, PubMed]; Hsa_circ_0097009 regulates proliferation, apoptosis, migration and invasion of hepatocellular carcinoma cells via miR-568/RNF38 axis., [RefSeq, PubMed]; Identified RNF38 as a novel E3 ligase that modifies RUNX1 function without inducing its degradation, [RefSeq, PubMed]; Inhibiting microRNA-301b suppresses cell growth and targets RNF38 in cervical carcinoma., [RefSeq, PubMed]; RNF38 inhibits osteosarcoma cell proliferation by binding to CRY1., [RefSeq, PubMed]; RNF38 suppress growth and metastasis via ubiquitination of ACTN4 in nasopharyngeal carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest RNF38 is an E3 ubiquitin ligase that may play a role in regulating p53., [RefSeq, PubMed]; This gene encodes a protein with a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain found in a large set of proteins playing roles in diverse cellular processes including oncogenesis, development, signal transduction, and apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 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": 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": "A6PVP9;B1AM81;B1AM82;B3KSG4;E7EVL3;Q7LB33;Q8N0Y0;Q9H748", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9H0F5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYV6-1", "uniprot_id": [ { "id": "RRN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYV6", "type": "external" } ], "mass": 74107.0, "length": 651, "protein_name": "RNA polymerase I-specific transcription initiation factor RRN3", "gene_name": "RRN3", "organism": "Human", "refseq_name": "RNA polymerase I-specific transcription initiation factor RRN3 isoform 1", "refseq_ac": [ { "id": "NP_060897", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060897", "type": "external" } ], "gene_names_uniprotkb": "RRN3; TIFIA", "gene_names_refseq": "A-270G1.2; RRN3; TIFIA", "protein_names_uniprotkb": "RNA polymerase I-specific transcription initiation factor RRN3; TIF-IA; Transcription initiation factor IA", "protein_names_refseq": "RNA polymerase I-specific transcription initiation factor RRN3 isoform 1; RNA polymerase I-specific transcription initiation factor RRN3; RRN3 RNA polymerase I transcription factor homolog; RRN3 homolog, RNA polymerase I transcription factor; transcription initiation factor IA; transcription initiation factor TIF-IA", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:54700); (R-HSA-73762); (R-HSA-73772)", "pathway_count": 3, "publication_count": 118, "publication_id_list": "10082553;10758157;10913176;11237011;11250901;11250903;11265758;12393749;12620228;12646563;14969726;15004009;1547496;15558034;15805466;17318177;18452278;18559419;18669648;18691976;19664994;19664995;19690332;19815529;20068231;21872626;22009320;22645359;23481700;24714562;24715725;25418920;25469497;25502872;25576301;25645385;25802875;25892735;26154972;26375851;26728094;26811146;26929215;26992070;27257073;27418187;27418309;27543614;27846572;27862975;27893789;27920218;2805069;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29769354;29786170;29789417;29873780;30315122;30410026;30429286;30779550;30793766;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;34078123;34087483;34171305;34185709;34211107;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36581221;37119370;37938771;7491500;7801123", "class_list": "", "function": "Data show that nutrient starvation, density arrest and protein synthesis inhibitors inactivate transcription initiation factor-IA and impair its association with RNA polymerase I., [RefSeq, PubMed]; Depletion of Ebp1 expression in primary colon cancer cells inhibits cell proliferation, colony forming, and invasion in vitro as well as tumor formation in vivo and enhances cell sensitivity to irradiation. We further demonstrated that Ebp1 interacts with TIF-90, a splice variant of transcription initiation factor IA (TIF-IA) of the RNA polymerase I complex., [RefSeq, PubMed]; ERK-dependent phosphorylation of the transcription initiation factor TIF-IA is required for RNA polymerase I transcription and cell growth., [RefSeq, PubMed]; High RRN3 expression is associated with malignant characteristics and poor prognosis in pancreatic cancer., [RefSeq, PubMed]; Required for efficient transcription initiation by RNA polymerase I (Pol I). Required for the formation of the competent pre-initiation complex (PIC)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Specific stress stimuli of NF-kappaB induce degradation of a critical component of the PolI complex, TIF-IA. This degradation precedes activation of NF-kappaB and is associated with increased nucleolar size., [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": 14, "reported_mutagensis": 1, "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": "A2RTY9;B4E0J7;B4E3T2;Q3MHU9;Q6IPL4;Q9H4F0", "ec_number_list": [], "go_molecular_function": "GO:0001164 RNA polymerase I core promoter sequence-specific DNA binding;GO:0001181 RNA polymerase I general transcription initiation factor activity;GO:0001042 RNA polymerase I core binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006361 transcription initiation at RNA polymerase I promoter", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9NYV6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3D3-1", "uniprot_id": [ { "id": "RT16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3D3", "type": "external" } ], "mass": 15345.0, "length": 137, "protein_name": "Small ribosomal subunit protein bS16m", "gene_name": "MRPS16", "organism": "Human", "refseq_name": "small ribosomal subunit protein bS16m isoform 1", "refseq_ac": [ { "id": "NP_057149", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057149", "type": "external" } ], "gene_names_uniprotkb": "MRPS16; CGI-132; RPMS16", "gene_names_refseq": "CGI-132; COXPD2; MRP-S16; MRPS16; RPMS16; S16mt; bS16m", "protein_names_uniprotkb": "Small ribosomal subunit protein bS16m; 28S ribosomal protein S16, mitochondrial; MRP-S16; S16mt", "protein_names_refseq": "28S ribosomal protein S16, mitochondrial; mitochondrial small ribosomal subunit protein bS16m; small ribosomal subunit protein bS16m isoform 1", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 2 (Disease Ontology:DOID:0111483)", "pathway": " (hsa:51021); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 61, "publication_id_list": "11237011;11279123;11402041;11543634;15358359;15505824;17803939;18429816;18669648;18782833;19007248;19524667;19690332;19716793;20068231;20186120;20877624;21406692;21907147;22172991;2250005;23481700;24714562;24715725;25233460;25810538;25838379;26154972;26728094;26992070;27029019;27846572;27920218;28218747;28228285;28510447;28832583;28892042;28904123;29242379;29437277;29508533;29557506;29786170;30315122;31092671;31844290;31998317;32157095;32161166;32502341;33141586;33243891;33298915;33691108;33878294;33936100;34211107;36302763;36596788;37141370", "class_list": "", "function": "Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; 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": 1, "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": "B4E032;Q96Q60", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9Y3D3-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CK96-1", "uniprot_id": [ { "id": "S352B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CK96", "type": "external" } ], "mass": 43777.0, "length": 405, "protein_name": "Solute carrier family 35 member E2B", "gene_name": "SLC35E2B", "organism": "Human", "refseq_name": "solute carrier family 35 member E2B", "refseq_ac": [ { "id": "NP_001104251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104251", "type": "external" } ], "gene_names_uniprotkb": "SLC35E2B; KIAA0447", "gene_names_refseq": "SLC35E2B; SLC35E2", "protein_names_uniprotkb": "Solute carrier family 35 member E2B", "protein_names_refseq": "solute carrier family 35 member E2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:728661)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;24715725;25418920;26992070;27846572;27862975;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632711;29769354;30315122;30410026;31154438;31844290;32157095;32357974;32387766;32488085;32502341;33298915;33711669;33936100;33968037;34932366;36241641", "class_list": "", "function": "Putative transporter., [UniProtKB]; Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe., [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": "B3KWR0;O75035;Q2TAY8;Q569F8;Q5CZA4;Q9Y3J8", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P0CK96-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQE4-1", "uniprot_id": [ { "id": "SELS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQE4", "type": "external" } ], "mass": 21163.0, "length": 189, "protein_name": "Selenoprotein S", "gene_name": "SELENOS", "organism": "Human", "refseq_name": "selenoprotein S isoform 1", "refseq_ac": [ { "id": "NP_060915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060915", "type": "external" } ], "gene_names_uniprotkb": "SELENOS; AD-015; SBBI8; SELS; VIMP", "gene_names_refseq": "AD-015; ADO15; SBBI8; SELENOS; SELS; SEPS1; VIMP", "protein_names_uniprotkb": "Selenoprotein S; SelS; VCP-interacting membrane protein", "protein_names_refseq": "VCP interacting membrane selenoprotein; VCP-interacting membrane protein; selenoprotein S isoform 1; tanis; valosin-containing protein-interacting membrane protein", "tax_id": 9606, "disease": "colorectal adenoma (Disease Ontology:DOID:0050860); colorectal carcinoma (Disease Ontology:DOID:0080199)", "pathway": " (hsa:55829); (R-HSA-8866654)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10562279;10931946;11237011;11740563;12775843;15063746;15215855;15215856;16186509;16186510;16307923;16868077;17108083;17130289;17726030;18316726;18359941;18669648;18719106;19208625;19410543;19723507;21203937;21329877;21396873;21554508;21896481;22016385;22021426;23186163;23481700;24662292;24714562;24715725;24807418;24979766;25030448;25170678;25418920;25936802;26086376;26138980;26210183;26216882;26344566;26350214;26711259;26811146;26992070;27569044;27597759;27645994;27798111;27920218;28832583;28834231;29242379;29393594;29632046;30429286;30524438;30526872;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32200094;32387766;32897882;32938616;32983136;33298915;33968037;34509645;34932366;35569765;35580925;36773692;37092056;37217939;38665916;8625414;8991089", "class_list": "", "function": "Involved in the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Probably acts by serving as a linker between DERL1, which mediates the retrotranslocation of misfolded proteins into the cytosol, and the ATPase complex VCP, which mediates the translocation and ubiquitination., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Rs7537605 polymorphism in VAV3 gene and rs28665122 polymorphism in SEPS gene are not associated with Hashimoto's thyroiditis in North-East Algerian population., [RefSeq, PubMed]; SELS is regulated by glucose deprivation and endoplasmic reticulum stress. It is a glucose-regulated protein., [RefSeq, PubMed]; Selenoprotein S Interacts with the Replication and Transcription Complex of SARS-CoV-2 by Binding nsp7., [RefSeq, PubMed]; Selenoprotein S regulates tumorigenesis of clear cell renal cell carcinoma through AKT/ GSK3beta/NF-kappaB signaling pathway., [RefSeq, PubMed]; This gene encodes a transmembrane protein that is localized in the endoplasmic reticulum (ER). It is involved in the degradation process of misfolded proteins in the ER, and may also have a role in inflammation control. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Two additional phylogenetically conserved stem-loop structures (Stem-loop 1 and Stem-loop 2) in the 3' UTR of this mRNA have been shown to function as modulators of Sec insertion. An alternatively spliced transcript variant, lacking the SECIS element and encoding a non-Sec containing shorter isoform, has been described for this gene (PMID:23614019). [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": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3B771;Q9P0I6", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0051117 ATPase binding;GO:0016209 antioxidant activity;GO:1990381 ubiquitin-specific protease binding;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0036502 Derlin-1-VIMP complex;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0034361 very-low-density lipoprotein particle", "go_biological_process": "GO:0032869 cellular response to insulin stimulus;GO:0051775 response to redox state;GO:0032715 negative regulation of interleukin-6 production;GO:0032720 negative regulation of tumor necrosis factor production;GO:0050728 negative regulation of inflammatory response", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9BQE4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MWD9-1", "uniprot_id": [ { "id": "RUXGL_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MWD9", "type": "external" } ], "mass": 8544.0, "length": 76, "protein_name": "Putative small nuclear ribonucleoprotein G-like protein 15", "gene_name": "SNRPGP15", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SNRPGP15", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative small nuclear ribonucleoprotein G-like protein 15", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 23, "publication_id_list": "17074750;23481700;24715725;25645385;26024233;26154972;26375851;27846572;28904123;29493099;30379171;30410026;31844290;32357974;32387766;32488085;32502341;33141586;33392160;33537174;33968037;35083852;37938771", "class_list": "", "function": "Associated with snRNP U1, U2, U4/U6 and U5., [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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005685 U1 snRNP;GO:0071013 catalytic step 2 spliceosome;GO:0005686 U2 snRNP;GO:0071011 precatalytic spliceosome;GO:0005687 U4 snRNP", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "A8MWD9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B4DYI2-1", "uniprot_id": [ { "id": "S31C2_HUMAN", "url": "https://www.uniprot.org/uniprot/B4DYI2", "type": "external" } ], "mass": 124429.0, "length": 1134, "protein_name": "Spermatogenesis-associated protein 31C2", "gene_name": "SPATA31C2", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31C2 isoform 2", "refseq_ac": [ { "id": "NP_001159609", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159609", "type": "external" } ], "gene_names_uniprotkb": "SPATA31C2; FAM75C2", "gene_names_refseq": "FAM75C2; SPATA31C2", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31C2; Protein FAM75C2", "protein_names_refseq": "family with sequence similarity 75, member C2; putative spermatogenesis-associated protein 31C2; spermatogenesis-associated protein 31C2 isoform 2; spermatogenesis-associated protein 31C2", "tax_id": 9606, "disease": "", "pathway": " (hsa:645961)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;30620550;32938616;35051231", "class_list": "", "function": "May play a role in spermatogenesis., [UniProtKB]", "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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "B4DYI2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99884-1", "uniprot_id": [ { "id": "SC6A7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99884", "type": "external" } ], "mass": 70911.0, "length": 636, "protein_name": "Sodium-dependent proline transporter", "gene_name": "SLC6A7", "organism": "Human", "refseq_name": "sodium-dependent proline transporter", "refseq_ac": [ { "id": "NP_055043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055043", "type": "external" } ], "gene_names_uniprotkb": "SLC6A7; PROT", "gene_names_refseq": "PROT; SLC6A7", "protein_names_uniprotkb": "Sodium-dependent proline transporter; Solute carrier family 6 member 7", "protein_names_refseq": "brain-specific L-proline transporter; sodium-dependent proline transporter; solute carrier family 6 (neurotransmitter transporter, L-proline), member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:6534); (R-HSA-442660); (R-HSA-71288)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "10446133;10684912;10889531;10973981;11237011;11555793;11698620;11897791;12115694;12151341;12889669;15044463;15286787;15286788;15592994;15632147;16226721;16751771;16981706;17502375;17726476;18599538;19874574;2008212;20424473;20431603;2324105;2387399;25645385;2914937;29557506;33912179;35051231;7651355;7874447;7945388;8125921;8183239;8632143;8651275;9148748;9218780;9722522;9845349", "class_list": "", "function": "Brain specific sodium (and chloride)-dependent proline transporter (PubMed:7651355). Terminates the action of proline by its high affinity sodium-dependent reuptake into presynaptic terminals (Probable)., [UniProtKB, 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]; These findings suggest that SLC6A7 could be a susceptible gene for asthma. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [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": 8, "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": "Q0VG81;Q52LU6", "ec_number_list": [], "go_molecular_function": "GO:0015193 L-proline transmembrane transporter activity;GO:0005298 proline:sodium symporter activity;GO:0046872 metal ion binding;GO:0015293 symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse;GO:0097060 synaptic membrane", "go_biological_process": "GO:0015824 proline transport;GO:0035725 sodium ion transmembrane transport;GO:0030163 protein catabolic process;GO:0006836 neurotransmitter transport;GO:1903804 glycine import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q99884-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969I6-1", "uniprot_id": [ { "id": "S38A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969I6", "type": "external" } ], "mass": 60764.0, "length": 547, "protein_name": "Sodium-coupled neutral amino acid transporter 4", "gene_name": "SLC38A4", "organism": "Human", "refseq_name": "sodium-coupled neutral amino acid transporter 4", "refseq_ac": [ { "id": "NP_001137296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137296", "type": "external" } ], "gene_names_uniprotkb": "SLC38A4; ATA3; NAT3; SNAT4", "gene_names_refseq": "ATA3; NAT3; PAAT; SLC38A4; SNAT4", "protein_names_uniprotkb": "Sodium-coupled neutral amino acid transporter 4; Amino acid transporter A3; Na(+)-coupled neutral amino acid transporter 4; Solute carrier family 38 member 4; System A amino acid transporter 3; System N amino acid transporter 3", "protein_names_refseq": "N amino acid transporter 3; Na(+)-coupled neutral amino acid transporter 4; amino acid transporter A3; amino acid transporter system A3; sodium-coupled neutral amino acid transporter 4; system A amino acid transporter 3; system N amino acid transporter 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55089); (R-HSA-352230)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11414754;11417227;11591158;11827462;12202949;12527723;12809675;12845534;12930836;15151999;15659399;15918515;16148032;18195088;19015196;19664994;21097500;21917917;24652292;24715725;25576301;27846572;27893789;29557506;29961568;31154438;31611695;31844290;32387766;33592498;33912179;33928121;33936100;34274945;34357683;35051231;35494241;35580925;36241641;36613847;38508745;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "Evidence of SNAT4 mRNA and protein expression in the human placenta, both at the first trimester and at full term, [RefSeq, PubMed]; Platelets Affect the Activity of Amino Acid Transporter SNAT4 in HuH-7 Human Hepatoma Cells., [RefSeq, PubMed]; SLC38A4 Amino Acid Transporter Expression Is Significantly Lower in Early Preterm Intrauterine Growth Restriction Complicated Placentas. Publication Status: Online-Only, [RefSeq, PubMed]; SLC38A4 functions as a tumour suppressor in hepatocellular carcinoma through modulating Wnt/beta-catenin/MYC/HMGCS2 axis., [RefSeq, PubMed]; SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]., [RefSeq]; Symporter that cotransports neutral amino acids and sodium ions from the extracellular to the intracellular side of the cell membrane (PubMed:11342143, PubMed:19015196, PubMed:33928121). The transport is electrogenic, pH dependent and partially tolerates substitution of Na(+) by Li(+) (PubMed:11414754). Preferentially transports smaller amino acids, such as glycine, L-alanine, L-serine, L-asparagine and L-threonine, followed by L-cysteine, L-histidine, L-proline and L-glutamine and L-methionine (PubMed:11414754, PubMed:33928121)., [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": 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": 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": 19, "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": "A8K553", "ec_number_list": [], "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0005283 amino acid:sodium symporter activity;GO:0061459 L-arginine transmembrane transporter activity;GO:0005295 neutral L-amino acid:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031528 microvillus membrane;GO:0016020 membrane", "go_biological_process": "GO:0006865 amino acid transport;GO:0015804 neutral amino acid transport;GO:0003333 amino acid transmembrane transport;GO:1904273 L-alanine import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q969I6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3SY17-1", "uniprot_id": [ { "id": "S2552_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3SY17", "type": "external" } ], "mass": 33721.0, "length": 297, "protein_name": "Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52", "gene_name": "SLC25A52", "organism": "Human", "refseq_name": "mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52", "refseq_ac": [ { "id": "NP_001029344", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029344", "type": "external" } ], "gene_names_uniprotkb": "SLC25A52; MCART2", "gene_names_refseq": "MCART2; SLC25A52", "protein_names_uniprotkb": "Mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52; Mitochondrial NAD(+) transporter SLC25A52; Mitochondrial carrier triple repeat protein 2; Solute carrier family 25 member 52", "protein_names_refseq": "mitochondrial NAD(+) transporter SLC25A52; mitochondrial carrier triple repeat 2; mitochondrial carrier triple repeat protein 2; mitochondrial nicotinamide adenine dinucleotide transporter SLC25A52", "tax_id": 9606, "disease": "", "pathway": " (hsa:147407)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;23266187;27846572;27920218;28218747;28228285;28834231;31844290;32906142", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Mitochondrial membrane carrier protein that mediates the import of NAD(+) into mitochondria (PubMed:32906142). Compared to SLC25A51, SLC25A52-mediated transport is not essential for the import of NAD(+) in mitochondria (PubMed:32906142). The transport mechanism, uniport or antiport, its electrogenicity and substrate selectivity, remain to be elucidated., [UniProtKB, PubMed]; This gene is similar to the mitochondrial carrier triple repeat 1 gene on chromosome 9. The gene is intronless and may be an evolving pseudogene; however, it is transcribed and it contains a full-length coding region so it is currently classified as a protein-coding locus. [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": 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:0051724 NAD transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:1990549 mitochondrial NAD transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q3SY17-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75264-1", "uniprot_id": [ { "id": "SIM24_HUMAN", "url": "https://www.uniprot.org/uniprot/O75264", "type": "external" } ], "mass": 14964.0, "length": 130, "protein_name": "Small integral membrane protein 24", "gene_name": "SMIM24", "organism": "Human", "refseq_name": "small integral membrane protein 24 precursor", "refseq_ac": [ { "id": "NP_001129975", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129975", "type": "external" } ], "gene_names_uniprotkb": "SMIM24; C19orf77; HSPC323", "gene_names_refseq": "C19orf77; HSPC323; MARDI; SMIM24", "protein_names_uniprotkb": "Small integral membrane protein 24", "protein_names_refseq": "MAP17-related dimer; small integral membrane protein 24 precursor; transmembrane protein C19orf77; transmembrane protein HSPC323", "tax_id": 9606, "disease": "", "pathway": " (hsa:284422)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29557506;31154438", "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": "B9EJF4;Q9P059", "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": "O75264-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43236-7", "uniprot_id": [ { "id": "SEPT4_HUMAN", "url": "https://www.uniprot.org/uniprot/O43236", "type": "external" } ], "mass": 112439.0, "length": 996, "protein_name": "Septin-4", "gene_name": "SEPTIN4", "organism": "Human", "refseq_name": "septin-4 isoform 4", "refseq_ac": [ { "id": "NP_001185642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185642", "type": "external" } ], "gene_names_uniprotkb": "SEPTIN4; C17orf47; PNUTL2; SEP4; SEPT4; hucep-7", "gene_names_refseq": "ARTS; BRADEION; C17orf47; CE5B3; H5; MART; PNUTL2; SEP4; SEPT4; SEPTIN4; SPGF99; Septin-4; hCDCREL-2; hucep-7", "protein_names_uniprotkb": "Septin-4; Bradeion beta; Brain protein H5; CE5B3 beta; Cell division control-related protein 2; Peanut-like protein 2; hCDCREL-2", "protein_names_refseq": "CE5B3 beta; apoptosis-related protein in the TGF-beta signaling pathway; bradeion beta; brain protein H5; cell division control-related protein 2; cerebral protein 7; peanut-like protein 2; septin-4 isoform 4; septin-M; uncharacterized protein C17orf47", "tax_id": 9606, "disease": "spermatogenic failure 99 (Disease Ontology:DOID:0070728); Lewy body dementia (Disease Ontology:DOID:12217); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:5414)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11146656;11167005;11511094;15029247;15116257;15837787;15915442;17296554;17546647;18318008;21695558;23479728;24275569;25588830;29020630;30389919;33627621;36135717;36565718;9889007", "class_list": "", "function": "Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans., [RefSeq, PubMed]; Filament-forming cytoskeletal GTPase (Probable). Pro-apoptotic protein involved in LGR5-positive intestinal stem cell and Paneth cell expansion in the intestines, via its interaction with XIAP (By similarity). May also play a role in the regulation of cell fate in the intestine (By similarity). Positive regulator of apoptosis involved in hematopoietic stem cell homeostasis; via its interaction with XIAP (By similarity). Negative regulator of repair and hair follicle regeneration in response to injury, due to inhibition of hair follicle stem cell proliferation, potentially via its interaction with XIAP (By similarity). Plays an important role in male fertility and sperm motility (PubMed:36135717). During spermiogenesis, essential for the establishment of the annulus (a fibrous ring structure connecting the midpiece and the principal piece of the sperm flagellum) which is a requisite for the structural and mechanical integrity of the sperm (PubMed:36135717). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Required for dopaminergic metabolism in presynaptic autoreceptors; potentially via activity as a presynaptic scaffold protein (By similarity)., [UniProtKB, UniProtKB, PubMed]; P53 induces ARTS to promote mitochondrial apoptosis. Publication Status: Online-Only, [RefSeq, PubMed]; Required for the induction of cell death mediated by TGF-beta and possibly by other apoptotic stimuli (PubMed:11146656, PubMed:15837787). Induces apoptosis through binding and inhibition of XIAP resulting in significant reduction in XIAP levels, leading to caspase activation and cell death (PubMed:15029247). Mediates the interaction between BCL2 and XIAP, thereby positively regulating the ubiquitination and degradation of BCL2 and promoting apoptosis (PubMed:29020630)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The ARTS of p53-dependent mitochondrial apoptosis. Review article, [RefSeq, PubMed]; This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 12, "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": "A0A5F9ZHH3;B2RD42;B3KSX9;B4DXC6;B4DXV5;Q6IAP3;Q8N821;Q8NEP4;Q9H315;Q9UM58", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0097227 sperm annulus;GO:0005940 septin ring;GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0001764 neuron migration;GO:0006915 apoptotic process;GO:0030317 flagellated sperm motility;GO:0031398 positive regulation of protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "O43236-7", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75995-1", "uniprot_id": [ { "id": "SASH3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75995", "type": "external" } ], "mass": 41595.0, "length": 380, "protein_name": "SAM and SH3 domain-containing protein 3", "gene_name": "SASH3", "organism": "Human", "refseq_name": "SAM and SH3 domain-containing protein 3", "refseq_ac": [ { "id": "NP_061863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061863", "type": "external" } ], "gene_names_uniprotkb": "SASH3; CXorf9; SLY", "gene_names_refseq": "753P9; CXorf9; HACS2; IMD102; SASH3; SH3D6C; SLY", "protein_names_uniprotkb": "SAM and SH3 domain-containing protein 3; SH3 protein expressed in lymphocytes homolog", "protein_names_refseq": "SAM and SH3 domain-containing protein 3; SH3 protein expressed in lymphocytes homolog", "tax_id": 9606, "disease": "immunodeficiency 102 (Disease Ontology:DOID:0061072)", "pathway": " (hsa:54440)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "12515807;18991276;19690332;23481700;24366607;24714562;24715725;25576301;25810538;26154972;26375851;26758079;26992070;27397612;27846572;27862975;27920218;28228285;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30524438;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32502341;32983136;33141586;33298915;33691108;33717175;33876203;33912179;33936100;34211107;34561969;34932366;35051231;35154160;35464398;35561310;35580925;37646304;40914422", "class_list": "", "function": "Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3., [RefSeq, PubMed]; May function as a signaling adapter protein in lymphocytes., [UniProtKB, UniProtKB]; SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation., [RefSeq, PubMed]; The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by RefSeq, Sep 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": 13, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NCH1;A8K7K8;Q5JZ38", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0030890 positive regulation of B cell proliferation;GO:1902531 regulation of intracellular signal transduction;GO:0002821 positive regulation of adaptive immune response;GO:0002639 positive regulation of immunoglobulin production", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "O75995-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04279-1", "uniprot_id": [ { "id": "SEMG1_HUMAN", "url": "https://www.uniprot.org/uniprot/P04279", "type": "external" } ], "mass": 52131.0, "length": 462, "protein_name": "Semenogelin-1", "gene_name": "SEMG1", "organism": "Human", "refseq_name": "semenogelin-1 preproprotein", "refseq_ac": [ { "id": "NP_002998", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002998", "type": "external" } ], "gene_names_uniprotkb": "SEMG1; SEMG", "gene_names_refseq": "CT103; SEMG1; SEMG; SGI; dJ172H20.2", "protein_names_uniprotkb": "Semenogelin-1; Cancer/testis antigen 103; SGI; Semenogelin I", "protein_names_refseq": "SgI-29; cancer/testis antigen 103; semen coagulating protein; semenogelin I; semenogelin-1 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6406); (R-HSA-6803157); (R-HSA-977225)", "pathway_count": 3, "publication_count": 145, "publication_id_list": "10097139;10319874;10391242;10411933;10412373;10583407;10956649;11120840;11278841;11313366;11389039;11401442;11467836;11590439;118839;11971875;12454989;12493837;1270801;13816;14506261;14506276;14562960;14567678;14629036;14739326;15064394;1517240;1522221;15229136;15590901;15778384;15826377;15956276;15962837;16054449;16174740;16215847;16336202;16354652;16354654;16374474;16799473;16799559;16931762;16940129;17363965;17425515;17502600;17567961;17964057;18021746;18065497;18070888;18160480;18185531;1837051;18449172;18484335;1849145;18673279;19011241;19095652;19179970;19254208;19658395;19818633;19828817;19889947;20103720;20180804;20187088;20382864;20395631;20510021;20676056;20807650;20845358;2118650;21787330;2195544;22065755;22131221;22262861;22327069;22455996;22701042;23302724;23426625;23813966;2409350;24219363;24256734;24715725;24833601;24893886;25075772;25461571;25523424;25596890;25911201;26018760;26148048;26417681;26668317;26686862;26807092;27089320;2757795;279930;2900981;2912989;3035556;3053705;3080684;3094007;3142462;31611695;32486486;3286634;33311447;33968037;34357683;35051231;3675579;37217939;3889920;3972122;6422553;6698208;8033412;8097946;8114934;8159701;8444163;8464497;8490014;8870004;9006323;9054935;9092810;9523110;9665269;9756476;9862427", "class_list": "", "function": "Alpha-inhibin-92 and alpha-inhibin-31, derived from the proteolytic degradation of semenogelin, inhibit the secretion of pituitary follicle-stimulating hormone., [UniProtKB, PubMed]; Human Semenogelin 1 Promotes Sperm Survival in the Mouse Female Reproductive Tract. Publication Status: Online-Only, [RefSeq, PubMed]; Predominant protein in semen. It participates in the formation of a gel matrix entrapping the accessory gland secretions and ejaculated spermatozoa. Fragments of semenogelin and/or fragments of the related proteins may contribute to the activation of progressive sperm movements as the gel-forming proteins are fragmented by KLK3/PSA., [UniProtKB, PubMed]; SEMG1/2 augment energy metabolism of tumor cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is the predominant protein in semen. The encoded secreted protein is involved in the formation of a gel matrix that encases ejaculated spermatozoa. This preproprotein is proteolytically processed by the prostate-specific antigen (PSA) protease to generate multiple peptide products that exhibit distinct functions. One of these peptides, SgI-29, is an antimicrobial peptide with antibacterial activity. This proteolysis process also breaks down the gel matrix and allows the spermatozoa to move more freely. This gene and another similar semenogelin gene are present in a gene cluster on chromosome 20. [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": 1, "reported_mutagensis": 1, "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": "Q53ZV0;Q53ZV1;Q53ZV2;Q6X4I9;Q6Y809;Q6Y822;Q6Y823;Q86U64;Q96QM3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0090281 negative regulation of calcium ion import;GO:1901318 negative regulation of flagellated sperm motility;GO:0007320 insemination;GO:0019731 antibacterial humoral response;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "P04279-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78382-1", "uniprot_id": [ { "id": "S35A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78382", "type": "external" } ], "mass": 36779.0, "length": 337, "protein_name": "CMP-sialic acid transporter", "gene_name": "SLC35A1", "organism": "Human", "refseq_name": "CMP-sialic acid transporter isoform b", "refseq_ac": [ { "id": "NP_001161870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161870", "type": "external" } ], "gene_names_uniprotkb": "SLC35A1", "gene_names_refseq": "CDG2F; CMPST; CST; SLC35A1; hCST", "protein_names_uniprotkb": "CMP-sialic acid transporter; CMP-SA-Tr; CMP-Sia-Tr; CST; Solute carrier family 35 member A1", "protein_names_refseq": "CMP-SA-Tr; CMP-Sia-Tr; CMP-sialic acid transporter isoform b; mutated CMP-sialic acid transporter A1; solute carrier family 35 (CMP-sialic acid transporter), member 1; solute carrier family 35 (CMP-sialic acid transporter), member A1; solute carrier family 35 (UDP-galactose transporter), member 1", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIf (Disease Ontology:DOID:0070258)", "pathway": " (hsa:10559); (R-HSA-4085001); (R-HSA-5619037); (R-HSA-5663020); (R-HSA-727802); (R-HSA-9939291)", "pathway_count": 6, "publication_count": 143, "publication_id_list": "10191093;10206952;10330343;10334995;10393322;10405317;10431835;10504389;10536037;10545611;10581036;10742600;10749855;10861246;10947946;11062056;11279095;11528398;11592034;11602804;11709191;11741828;11751519;11784306;11916006;12177386;12235148;12473780;12603328;12668675;12682060;12743242;12966029;14627679;14962670;15082721;15121789;15136692;15213228;15501818;15576474;15607426;15911612;16147865;16237198;17030669;17034757;17044012;17123352;1756715;18195152;18632803;19587235;19797320;21081508;22223806;22522420;22692205;23125099;23217329;23359570;23390185;23481700;23873973;25279697;25279699;25552652;25645385;25892735;26154972;26687144;26923585;27130732;27493216;27543614;27733679;27846572;27862975;27909055;27920218;28228285;28514659;28832583;28856833;29477842;29557506;29632711;29769354;29786170;30115659;30429286;30779550;31092671;31154438;3136930;31844290;31848261;31949166;31998317;32149355;32157095;32303557;32350084;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33396746;33717175;33912179;33936100;33968037;33981976;34015330;34069698;34087483;34171305;34357683;34384782;34405274;34509645;35051231;36010968;36241641;36284347;36581221;37217939;7252518;7559389;8333853;8591035;8611500;8631981;8889805;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "glycogene", "function": "A three-pocket model for substrate coordination and selectivity by the nucleotide sugar transporters SLC35A1 and SLC35A2., [RefSeq, PubMed]; Knockout of the CMP-Sialic Acid Transporter SLC35A1 in Human Cell Lines Increases Transduction Efficiency of Adeno-Associated Virus 9: Implications for Gene Therapy Potency Assays. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Insights into Selected Disease-Causing Mutations within the SLC35A1 Gene Encoding the CMP-Sialic Acid Transporter. Publication Status: Online-Only, [RefSeq, PubMed]; Slc35a1 deficiency causes thrombocytopenia due to impaired megakaryocytopoiesis and excessive platelet clearance in the liver. Publication Status: Online-Only, [RefSeq, PubMed]; The promiscuous binding pocket of SLC35A1 ensures redundant transport of CDP-ribitol to the Golgi., [RefSeq, PubMed]; The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]., [RefSeq]; Transports CMP-sialic acid from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges CMP-sialic acid for CMP (PubMed:12682060, PubMed:15576474, PubMed:23873973). Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity). Also able to exchange CMP-sialic acid for AMP and UMP (PubMed:12682060). Also mediates the transport of CDP-ribitol (By similarity)., [UniProtKB, 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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 1, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "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": 338, "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": "Q5W1L8", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0015218 pyrimidine nucleotide transmembrane transporter activity;GO:0005456 CMP-N-acetylneuraminate transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0036211 protein modification process;GO:0006054 N-acetylneuraminate metabolic process;GO:0005975 carbohydrate metabolic process;GO:0006493 protein O-linked glycosylation;GO:0015782 CMP-N-acetylneuraminate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "P78382-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100010000000.010.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12981-4", "uniprot_id": [ { "id": "SEC20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12981", "type": "external" } ], "mass": 26132.0, "length": 228, "protein_name": "Vesicle transport protein SEC20", "gene_name": "BNIP1", "organism": "Human", "refseq_name": "vesicle transport protein SEC20 isoform BNIP1", "refseq_ac": [ { "id": "NP_001196", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001196", "type": "external" } ], "gene_names_uniprotkb": "BNIP1; NIP1; SEC20L; TRG8", "gene_names_refseq": "BNIP1; NIP1; SEC20; SEDH; TRG-8", "protein_names_uniprotkb": "Vesicle transport protein SEC20; BCL2/adenovirus E1B 19 kDa protein-interacting protein 1; TRG-8; Transformation-related gene 8 protein", "protein_names_refseq": "BCL2/adenovirus E1B 19 kDa protein-interacting protein 1; BCL2/adenovirus E1B 19kDa interacting protein 1; transformation-related gene 8 protein; vesicle transport protein SEC20 isoform BNIP1; vesicle transport protein SEC20", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250); spondyloepiphyseal dysplasia, Holling type (MONDO:MONDO:0979899)", "pathway": " (hsa:662); (R-HSA-6811434)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10052452;10217402;10318838;10445031;10559959;10761932;10921873;11172815;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;14504276;14654841;15029241;15037235;15272311;15616190;15632110;15813748;16030262;1631136;16571679;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;21931693;22013193;22094269;22304919;22639046;22869377;23396477;23481700;23896122;25364732;25418920;25436559;25492864;25576301;26375851;26811146;26929215;26992070;27920218;28832583;29222049;29508533;29557506;30379171;30429286;30833945;31217245;31530632;31844290;32387766;32502341;32897882;32938616;32983136;33912179;33968037;34171305;34509645;35266227;35580925;7844144;7954800;8001155;8128252;8132710;8221884;8253837;8505331;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia., [RefSeq, PubMed]; As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization (PubMed:15272311). Also plays a role in apoptosis (PubMed:15272311, PubMed:23896122, PubMed:7954800). It is for instance required for endoplasmic reticulum stress-induced apoptosis (PubMed:23896122). As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; BNip1 functions as a downstream modulator of RNF186 to direct endoplasmic reticulum stress-associated apoptotic signaling., [RefSeq, PubMed]; Soluble N-ethylmaleimide-sensitive factor attachment protein may suppress apoptosis by competing with antiapoptotic proteins for the BH3 domain of BNIP1, [RefSeq, PubMed]; The mitochondrial targeting domain (MTD) of Noxa has necrosis-inducing activity when conjugated with cell-penetrating peptide (CPP). In this study, we report another MTD-like motif, B1MLM, found in BNIP1, a pro-apoptotic BH3-only protein found in the endoplasmic reticulum membrane. The B1MLM peptide, conjugated with CPP, induced necrosis in a way similar to that of R8:MTD. Erratum:[Biochem Biophys Res Commun. 2019 Jan 22;508(4):1291. doi: 10.1016/j.bbrc.2018.12.086. PMID: 30567636], [RefSeq, PubMed]; This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. In addition, this protein is involved in vesicle transport into the endoplasmic reticulum. Alternative splicing of this gene results in four protein products with identical N- and C-termini. [provided by RefSeq, Mar 2011]., [RefSeq]; Three members of the BNIP family, BNIP1, BNIP3 and BNIP3L, are expressed in the developing brain with distinct brain region specificity, [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": 2, "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": "D3DQM3;D3DQM4;D3DQM5;D3DQM6;O75622;O75623;O75624;Q6K044;Q96FG4", "ec_number_list": [], "go_molecular_function": "GO:0005484 SNAP receptor activity;GO:0048763 calcium-induced calcium release activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0042594 response to starvation;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0097194 execution phase of apoptosis;GO:0014823 response to activity", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q12981-4", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2I0M5-1", "uniprot_id": [ { "id": "RSPO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2I0M5", "type": "external" } ], "mass": 26171.0, "length": 234, "protein_name": "R-spondin-4", "gene_name": "RSPO4", "organism": "Human", "refseq_name": "R-spondin-4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001025042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025042", "type": "external" } ], "gene_names_uniprotkb": "RSPO4; C20orf182", "gene_names_refseq": "C20orf182; CRISTIN4; RSPO4", "protein_names_uniprotkb": "R-spondin-4; Roof plate-specific spondin-4; hRspo4", "protein_names_refseq": "R-spondin family, member 4; R-spondin-4 isoform 1 precursor; hRspo4; roof plate-specific spondin-4", "tax_id": 9606, "disease": "nonsyndromic congenital nail disorder 4 (Disease Ontology:DOID:0080082)", "pathway": " (hsa:343637); (R-HSA-4641263)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "15144186;16109882;16357527;17041604;17186469;17400545;17804805;17805348;20495530;21693646;21727895;21909076;22575959;23847203;29769720;34099859;36507580", "class_list": "", "function": "Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway (PubMed:21727895, PubMed:21909076)., [UniProtKB, PubMed, PubMed, PubMed]; RSPO4 has a crucial role in nail morphogenesis., [RefSeq, PubMed]; RSPO4 is a potential risk gene of stages III-IV, grade C periodontitis through effects on innate immune response and oral barrier integrity., [RefSeq, PubMed]; Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium. Publication Status: Online-Only, [RefSeq, PubMed]; These findings expand our understanding of the role of RSPO4 in nail development and disease., [RefSeq, PubMed]; This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "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": "A2A2I6;Q9UGB2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008201 heparin binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0035878 nail development;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0030177 positive regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q2I0M5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2MKA7-1", "uniprot_id": [ { "id": "RSPO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2MKA7", "type": "external" } ], "mass": 28959.0, "length": 263, "protein_name": "R-spondin-1", "gene_name": "RSPO1", "organism": "Human", "refseq_name": "R-spondin-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001033722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033722", "type": "external" } ], "gene_names_uniprotkb": "RSPO1", "gene_names_refseq": "CRISTIN3; RSPO1; RSPO", "protein_names_uniprotkb": "R-spondin-1; Roof plate-specific spondin-1; hRspo1", "protein_names_refseq": "R-spondin homolog; R-spondin-1 isoform 1 precursor; roof plate-specific spondin-1", "tax_id": 9606, "disease": "type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (MONDO:MONDO:0012530)", "pathway": " (hsa:284654); (R-HSA-4641263)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "16109882;16306530;16357527;17041600;17400545;17804805;20495530;21693646;21727895;21909076;22575959;22615920;22815884;23756651;23756652;23809763;23847203;26764097;27123103;27314333;29769720;33109540;35854363;36755192;38183076", "class_list": "", "function": "Activator of the canonical Wnt signaling pathway by acting as a ligand for LGR4-6 receptors (PubMed:29769720). Upon binding to LGR4-6 (LGR4, LGR5 or LGR6), LGR4-6 associate with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. Also regulates the canonical Wnt/beta-catenin-dependent pathway and non-canonical Wnt signaling by acting as an inhibitor of ZNRF3, an important regulator of the Wnt signaling pathway. Acts as a ligand for frizzled FZD8 and LRP6. May negatively regulate the TGF-beta pathway. Has a essential roles in ovary determination. Regulates Wnt signaling by antagonizing DKK1/KREM1-mediated internalization of LRP6 through an interaction with KREM1 (PubMed:17804805)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin., [RefSeq, PubMed]; Human RSPO1 Mutation Represses Beige Adipocyte Thermogenesis and Contributes to Diet-Induced Adiposity., [RefSeq, PubMed]; Identified a gene, R-spondin1, with potent and specific proliferative effects on intestinal crypt cells, [RefSeq, PubMed]; Mice treated with R-spondin1 showed increased intestinal epithelial healing, providing a protective effect against chemotherapy-induced intestinal mucositis., [RefSeq, PubMed]; R-spondin-1 induces Axin degradation via the LRP6-CK1epsilon axis. Publication Status: Online-Only, [RefSeq, PubMed]; RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]; WNT Signaling Driven by R-spondin 1 and LGR6 in High-grade Serous 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": 3, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 2, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 2, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 2, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 2, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 2, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 10, "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": "A2A420;Q0H8S6;Q14C72;Q5T0F2;Q8N7L5", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0001664 G protein-coupled receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus", "go_biological_process": "GO:0001934 positive regulation of protein phosphorylation;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0002090 regulation of receptor internalization;GO:0030177 positive regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q2MKA7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1010101000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUJ1-1", "uniprot_id": [ { "id": "SAPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUJ1", "type": "external" } ], "mass": 56627.0, "length": 521, "protein_name": "Proactivator polypeptide-like 1", "gene_name": "PSAPL1", "organism": "Human", "refseq_name": "proactivator polypeptide-like 1 preproprotein", "refseq_ac": [ { "id": "NP_001078851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078851", "type": "external" } ], "gene_names_uniprotkb": "PSAPL1", "gene_names_refseq": "PSAPL1", "protein_names_uniprotkb": "Proactivator polypeptide-like 1", "protein_names_refseq": "proactivator polypeptide-like 1 preproprotein; proactivator polypeptide-like 1; prosaposin-like protein 1", "tax_id": 9606, "disease": "combined saposin deficiency (Disease Ontology:DOID:0111330)", "pathway": " (hsa:768239)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "18491316;35051231;39894887", "class_list": "", "function": "May activate the lysosomal degradation of sphingolipids., [UniProtKB]; This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 21, "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": "A0A184;Q8N7T4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005829 cytosol;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0006665 sphingolipid metabolic process;GO:0019216 regulation of lipid metabolic process;GO:0060736 prostate gland growth;GO:0060742 epithelial cell differentiation involved in prostate gland development", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6NUJ1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6T310-1", "uniprot_id": [ { "id": "RSLBA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6T310", "type": "external" } ], "mass": 27006.0, "length": 242, "protein_name": "Ras-like protein family member 11A", "gene_name": "RASL11A", "organism": "Human", "refseq_name": "ras-like protein family member 11A isoform 2", "refseq_ac": [ { "id": "NP_001318055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001318055", "type": "external" } ], "gene_names_uniprotkb": "RASL11A", "gene_names_refseq": "RASL11A", "protein_names_uniprotkb": "Ras-like protein family member 11A; 3.6.5.2", "protein_names_refseq": "ras-like protein family member 11A isoform 2; ras-like protein family member 11A", "tax_id": 9606, "disease": "", "pathway": " (hsa:387496)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "15033445;17074750;17628721;20168301;23481700;24715725;25576301;25645385;26154972;26992070;27600516;27862975;29242379;29393594;29493099;29557506;29786170;30429286;31154438;31174021;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33537174;33592498;33691108;33936100;33968037;33981976;34171305;34405274;34509645;35051231;35561310;35580925;36010968;36215666;36241641", "class_list": "", "function": "In transient transfection experiments, RasL11a enhanced the transcriptional activity of an RNA polymerase I-specific reporter controlled by the rDNA enhancer/promoter region., [RefSeq, PubMed]; One gene, RASL11A, localized on chromosome band 13q12.2, escaped the copy number-induced overexpression and was reproducibly and significantly down-regulated on the mRNA and protein level (P=.0001, FDR=0.002). RASL11A expression levels were also lower in primary colorectal tumors as compared to matched normal mucosa (P=.0001, FDR=0.0001, [RefSeq, PubMed]; RASL11A is down-regulated in prostate tumors as measured by quantitative real-time PCR. This result suggests that this gene may have a tumor suppressor role in prostate cancer., [RefSeq, PubMed]; Regulator of rDNA transcription. Acts in cooperation UBF/UBTF and positively regulates RNA polymerase I transcription (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": "B2RN97", "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:0003925 G protein activity", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045943 positive regulation of transcription by RNA polymerase I", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q6T310-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTU7-1", "uniprot_id": [ { "id": "SCX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTU7", "type": "external" } ], "mass": 21596.0, "length": 201, "protein_name": "Basic helix-loop-helix transcription factor scleraxis", "gene_name": "SCX", "organism": "Human", "refseq_name": "basic helix-loop-helix transcription factor scleraxis", "refseq_ac": [ { "id": "NP_001073983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073983", "type": "external" } ], "gene_names_uniprotkb": "SCX; BHLHA41; BHLHA48; SCXA; SCXB", "gene_names_refseq": "SCXA; SCXB; SCX; bHLHa48", "protein_names_uniprotkb": "Basic helix-loop-helix transcription factor scleraxis; Class A basic helix-loop-helix protein 41; Class A basic helix-loop-helix protein 48; bHLHa41; bHLHa48", "protein_names_refseq": "basic helix-loop-helix transcription factor scleraxis; class A basic helix-loop-helix protein 41; class A basic helix-loop-helix protein 48; class II bHLH protein scleraxis; scleraxis basic helix-loop-helix transcription factor; scleraxis homolog A; scleraxis homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:642658)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "14516699;29242379;29557506;29632711;31844290;32183051;32708589;32795590;35563778", "class_list": "", "function": "Plays an early essential role in mesoderm formation, as well as a later role in formation of somite-derived chondrogenic lineages., [UniProtKB]; Regulation of Cardiac Fibroblast GLS1 Expression by Scleraxis. Publication Status: Online-Only, [RefSeq, PubMed]; Tenogenic Contribution to Skeletal Muscle Regeneration: The Secretome of Scleraxis Overexpressing Mesenchymal Stem Cells Enhances Myogenic Differentiation In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; The Transcription Factor SCX is a Potential Serum Biomarker of Fibrotic Diseases. Publication Status: Online-Only, [RefSeq, PubMed]; The transcription factor scleraxis differentially regulates gene expression in tenocytes isolated at different developmental stages., [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:0003677 DNA binding;GO:0046983 protein dimerization 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:0043565 sequence-specific 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:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0010629 negative regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q7RTU7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5G0-1", "uniprot_id": [ { "id": "SIM20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5G0", "type": "external" } ], "mass": 7702.0, "length": 67, "protein_name": "Small integral membrane protein 20", "gene_name": "SMIM20", "organism": "Human", "refseq_name": "small integral membrane protein 20 isoform 1", "refseq_ac": [ { "id": "NP_001138904", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138904", "type": "external" } ], "gene_names_uniprotkb": "SMIM20; C4orf52; MITRAC7", "gene_names_refseq": "C4orf52; MITRAC7; PNX; SMIM20", "protein_names_uniprotkb": "Small integral membrane protein 20; MITRAC7; Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 7 kDa", "protein_names_refseq": "mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 7 kDa; phoenixin; small integral membrane protein 20 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:389203); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11237011;19503089;20112406;22342701;23125284;23260140;23345593;23746447;24403053;25418920;25576301;25926683;25959673;26154972;26321642;26811146;26929215;26992070;27397612;27600516;27693358;27846572;27862975;28082314;28199844;28218747;28228285;28330871;28834231;28904123;29154948;29242379;29393594;29437277;29557506;29632711;29786170;29789417;30315122;30429286;30484775;30933929;31154438;31536960;31844290;31848261;32157095;32161166;32265295;32317297;32375044;32387766;32488085;32938616;33392160;33717175;33968037;34357683;34969438;35580925;35750769;36241641;36581221;37938771;9843204", "class_list": "", "function": "Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly (PubMed:26321642). Promotes the progression of complex assembly after the association of MT-CO1/COX1 with COX4I1 and COX6C (PubMed:26321642). Chaperone-like assembly factor required to stabilize newly synthesized MT-CO1/COX1 and to prevent its premature turnover (PubMed:26321642)., [UniProtKB, PubMed]; MITRAC7 affects the biogenesis pathway by stabilizing newly synthesized COX1 in assembly intermediates, concomitantly preventing turnover. GeneRIF: SMIM20 (MITRAC7) is a COX1 specific chaperone which is necessary for cytochrome c oxidase biogenesis., [RefSeq, PubMed]; Peptide involved in a broad spectrum of regulatory functions (By similarity). Is a ligand for GPR173 (By similarity). As part of the reproductive cycle, it regulates gonadotropin-releasing hormone (GnRH) signaling in the hypothalamus and pituitary gland which augments the release of luteinizing hormone (By similarity). Plays a protective role in memory retention through activation of GNRHR (By similarity). Regulates the secretion of AVP by hypothalamic neurons (By similarity). Plays a role in the transduction of the itch sensation (By similarity). Induces anxiolytic effects, reducing behavior associated with anxiety (By similarity). Regulates food intake as well as satiation and satiety (By similarity). In the ovary, it regulates follicular growth by stimulating granulosa cell proliferation by increasing the expression of GPR173, CREB1, CYP19A1, KITLG, FSHR, and LHCGR (PubMed:30933929). It also increases the production of estradiol (E2) (PubMed:30933929). In the heart, it regulates contractility and relaxation (By similarity). It also plays a cardioprotective role during ischemia, where it activates the SAFE and RISK pathways (By similarity). Stimulates the proliferation and differentiation of preadipocytes (By similarity). In pancreatic islet cells, it induces proliferation of islet cells as well as the production of INS (By similarity)., [UniProtKB, 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": 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": "C9JYT8;Q9BRT5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q8N5G0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG04-1", "uniprot_id": [ { "id": "S2610_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG04", "type": "external" } ], "mass": 60059.0, "length": 563, "protein_name": "Putative solute carrier family 26 member 10P", "gene_name": "SLC26A10P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SLC26A10P; SLC26A10", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative solute carrier family 26 member 10P", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "11087667;12759755;16959974;18491316;28218747;29242379;31530632;32938616;35051231;35580925;36241641", "class_list": "", "function": "Chloride/bicarbonate exchanger., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NMJ2;B6ZDQ3;Q6ZWI7", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0015106 bicarbonate transmembrane transporter activity;GO:0015108 chloride transmembrane transporter activity;GO:0019531 oxalate transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:1902476 chloride transmembrane transport;GO:1902358 sulfate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8NG04-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TD47-1", "uniprot_id": [ { "id": "RS4Y2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TD47", "type": "external" } ], "mass": 29295.0, "length": 263, "protein_name": "Small ribosomal subunit protein eS4, Y isoform 2", "gene_name": "RPS4Y2", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS4, Y isoform 2", "refseq_ac": [ { "id": "NP_001034656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034656", "type": "external" } ], "gene_names_uniprotkb": "RPS4Y2; RPS4Y2P", "gene_names_refseq": "RPS4Y2P; RPS4Y2", "protein_names_uniprotkb": "Small ribosomal subunit protein eS4, Y isoform 2; 40S ribosomal protein S4, Y isoform 2", "protein_names_refseq": "40S ribosomal protein S4, Y; ribosomal protein S4, Y-linked 2 pseudogene; small ribosomal subunit protein eS4, Y isoform 2; small ribosomal subunit protein eS4, Y; small ribosomal subunit protein eS4", "tax_id": 9606, "disease": "", "pathway": " (hsa:140032); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (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-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 216, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20112406;20361218;20444697;20459660;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22174690;22190735;22195017;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23482395;23746841;2388630;24424021;24524803;24550520;25132172;25242263;25418920;25432065;25525153;25645385;25969445;26154972;26237581;26992070;27526673;27846572;28065601;28132843;28685749;28832583;28834231;29242379;29413899;29557506;30293783;30315122;30779550;30804176;30833945;31154438;31222486;31530632;31844290;31848261;31998317;32099016;32161166;32387766;32494880;32579943;32680882;32908316;32995776;32995777;33080218;33188728;33268501;33479166;34315815;34373319;34624207;35318648;36302773;36610391;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "LncPRYP4-3 serves as a novel diagnostic biomarker for dissecting subtypes of metabolic associated fatty liver disease by targeting RPS4Y2., [RefSeq, PubMed]; One of the Y-linked copies of the ribosomal protein S4 is expressed during spermatogenesis and germ cell development and the C-terminus of the protein has some degree of functional specialisation of this protein in spermatogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NIR6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0022627 cytosolic small ribosomal subunit", "go_biological_process": "GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 21.7, "record_id": "Q8TD47-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92665-1", "uniprot_id": [ { "id": "RT31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92665", "type": "external" } ], "mass": 45318.0, "length": 395, "protein_name": "Small ribosomal subunit protein mS31", "gene_name": "MRPS31", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS31", "refseq_ac": [ { "id": "NP_005821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005821", "type": "external" } ], "gene_names_uniprotkb": "MRPS31; IMOGN38", "gene_names_refseq": "IMOGN38; MRP-S31; MRPS31; S31mt; mS31", "protein_names_uniprotkb": "Small ribosomal subunit protein mS31; 28S ribosomal protein S31, mitochondrial; Imogen 38; MRP-S31; S31mt", "protein_names_refseq": "28S ribosomal protein S31, mitochondrial; imogen 38; mitochondrial small ribosomal subunit protein mS31; small ribosomal subunit protein mS31", "tax_id": 9606, "disease": "", "pathway": " (hsa:10240); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 53, "publication_id_list": "11279123;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21654843;21907147;22172991;2250005;22645359;23481700;24714562;25233460;25576301;25838379;25892735;26728094;26992070;27029019;28832583;28892042;28904123;29242379;29493099;29632046;29786170;30429286;31530632;31844290;31998317;32897882;32938616;32983136;33243891;33298915;33592498;33717175;33878294;33912179;33968037;33981976;35051231;35580925;36010968;36302763;36596788;37141370;40914422;8567980", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]., [RefSeq]; 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": 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": "B2RCS3;Q5VYC8;Q8WTV8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q92665-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HG1-1", "uniprot_id": [ { "id": "SIM10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HG1", "type": "external" } ], "mass": 9236.0, "length": 83, "protein_name": "Small integral membrane protein 10", "gene_name": "SMIM10", "organism": "Human", "refseq_name": "small integral membrane protein 10", "refseq_ac": [ { "id": "NP_001156910", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001156910", "type": "external" } ], "gene_names_uniprotkb": "SMIM10; CXorf69", "gene_names_refseq": "CXorf69; SMIM10", "protein_names_uniprotkb": "Small integral membrane protein 10", "protein_names_refseq": "small integral membrane protein 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:644538)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "23481700;24715725;25645385;26992070;27600516;28159928;28228285;28832583;28904123;29242379;29786170;30237439;30524438;31154438;31540894;31844290;31848261;32157095;32357974;32387766;32897882;32938616;32983136;33298915;33392160;33592498;33691108;33936100;33968037;34171305;34509645;35051231;36010968;36215666;37938771", "class_list": "", "function": "Therefore, these data suggest that SMIM10 exerts an oncosuppressive role in melanoma cells.Taken together, our results unveil the potential of S. cerevisiae to study hBRAFV600E, to populate the network of its functional interactors and, in doing so, to uncover new cancer-associated genes with therapeutic potential, [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:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q96HG1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96S79-1", "uniprot_id": [ { "id": "RSLAB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96S79", "type": "external" } ], "mass": 23229.0, "length": 203, "protein_name": "Ras-like protein family member 10B", "gene_name": "RASL10B", "organism": "Human", "refseq_name": "ras-like protein family member 10B", "refseq_ac": [ { "id": "NP_201572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_201572", "type": "external" } ], "gene_names_uniprotkb": "RASL10B", "gene_names_refseq": "RASL10B; RRP17; VTS58635", "protein_names_uniprotkb": "Ras-like protein family member 10B; 3.6.5.2; RRP17; Ras-like protein VTS58635; Ras-related protein 17", "protein_names_refseq": "Ras-related protein 17; alternative protein RASL10B; ras-like protein VTS58635; ras-like protein family member 10B", "tax_id": 9606, "disease": "", "pathway": " (hsa:91608)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "16959974;17028781;17984325;29557506", "class_list": "", "function": "May facilitate the release of atrial natriuretic peptide by cardiomyocytes and hence play a role in the regulation of arterial pressure., [UniProtKB]; RRP17 is a component of the cellular machinery involved in regulated secretion within the heart and potential mediator of the endocrine influence of the heart on other tissues, [RefSeq, PubMed]; RasL10B is a new member of Ras superfamily with tumor suppressor potential, [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": "B3KV31", "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:0003925 G protein activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0003050 regulation of systemic arterial blood pressure by atrial natriuretic peptide;GO:0090277 positive regulation of peptide hormone secretion", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96S79-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYC2-1", "uniprot_id": [ { "id": "SCOT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYC2", "type": "external" } ], "mass": 56140.0, "length": 517, "protein_name": "Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial", "gene_name": "OXCT2", "organism": "Human", "refseq_name": "succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial precursor", "refseq_ac": [ { "id": "NP_071403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071403", "type": "external" } ], "gene_names_uniprotkb": "OXCT2; FKSG25", "gene_names_refseq": "FKSG25; OXCT2; SCOTT", "protein_names_uniprotkb": "Succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial; 2.8.3.5; 3-oxoacid CoA-transferase 2A; SCOT-t; Testis-specific succinyl-CoA:3-oxoacid CoA-transferase", "protein_names_refseq": "3-oxoacid CoA-transferase 2A; succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial precursor; succinyl-CoA:3-ketoacid coenzyme A transferase 2, mitochondrial; testis-specific succinyl CoA:3-oxoacid CoA-transferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:64064); (R-HSA-77108)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11756565;1639787;28218747;28514659;30379171;3709573;8751852", "class_list": "", "function": "Key enzyme for ketone body catabolism. Transfers the CoA moiety from succinate to acetoacetate. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity)., [UniProtKB]; The protein encoded by this gene catalyzes the transfer of a CoA group from succinate to acetoacetate and is an important enzyme in ketone body catabolism. The encoded protein localizes to the mitochondrion. This gene is intronless, and a pseudogene of this gene is located elsewhere on chromosome 1. [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RBB4;Q5QPK4;Q8NHR1;Q9H1I4", "ec_number_list": [ { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" } ], "go_molecular_function": "GO:0008260 succinyl-CoA:3-oxo-acid CoA-transferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0031514 motile cilium", "go_biological_process": "GO:0046952 ketone body catabolic process;GO:1902224 ketone body metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9BYC2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYH1-1", "uniprot_id": [ { "id": "SE6L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYH1", "type": "external" } ], "mass": 111782.0, "length": 1024, "protein_name": "Seizure 6-like protein", "gene_name": "SEZ6L", "organism": "Human", "refseq_name": "seizure 6-like protein isoform 2 precursor", "refseq_ac": [ { "id": "NP_001171702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171702", "type": "external" } ], "gene_names_uniprotkb": "SEZ6L; KIAA0927; PRO6094", "gene_names_refseq": "SEZ6L1; SEZ6L", "protein_names_uniprotkb": "Seizure 6-like protein", "protein_names_refseq": "seizure 6-like protein isoform 2 precursor; seizure 6-like protein; seizure related gene 6-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:23544)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11175339;11237011;11992124;12975309;17804757;18477386;20424129;22920719;23234360;23481700;26204995;26758079;27543614;29242379;29557506;30459171;30484775;30568303;31154438;31848261;32157095;32387766;33141586;35051231", "class_list": "", "function": "A role of the SEZ6L Met430Ile polymorphic variant in increasing lung cancer risk. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; May contribute to specialized endoplasmic reticulum functions in neurons., [UniProtKB]; SEZ6L, HISPPD1, FEZF1, SAMD11 gene variants may be associated with autism spectrum disorder., [RefSeq, PubMed]; The addition of SEZ6L improved the performance of the Liverpool Lung Project risk model. GeneRIF: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; This is the first demonstration that genetic variants in the SEZ6L gene are associated with bipolar disorder Iin female patients and provides additional compelling evidence for genetic variation at 22q11-13 that influences BD-I risk., [RefSeq, PubMed]", "predicted_glycosites": 11, "predicted_n_glycosites": 11, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 2, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 70, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "A0AUW7;B0QYG4;B0QYG5;B7ZLJ6;G8JLP3;O95917;Q5THY5;Q6IBZ4;Q6UXD4;Q9NUI3;Q9NUI4;Q9NUI5;Q9Y2E1;Q9Y3J6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0043025 neuronal cell body;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0008344 adult locomotory behavior;GO:0021680 cerebellar Purkinje cell layer development;GO:0060074 synapse maturation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9BYH1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYN8-1", "uniprot_id": [ { "id": "RT26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYN8", "type": "external" } ], "mass": 24212.0, "length": 205, "protein_name": "Small ribosomal subunit protein mS26", "gene_name": "MRPS26", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS26", "refseq_ac": [ { "id": "NP_110438", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110438", "type": "external" } ], "gene_names_uniprotkb": "MRPS26; C20orf193; RPMS13", "gene_names_refseq": "C20orf193; GI008; MRP-S13; MRP-S26; MRPS13; MRPS26; NY-BR-87; RPMS13; dJ534B8.3; mS26", "protein_names_uniprotkb": "Small ribosomal subunit protein mS26; 28S ribosomal protein S13, mitochondrial; 28S ribosomal protein S26, mitochondrial; MRP-S13; MRP-S26; S13mt; S26mt", "protein_names_refseq": "28S ribosomal protein S13, mitochondrial; 28S ribosomal protein S26, mitochondrial; S13mt; S26mt; mitochondrial small ribosomal subunit protein mS26; serologically defined breast cancer antigen NY-BR-87; small ribosomal subunit protein mS26", "tax_id": 9606, "disease": "", "pathway": " (hsa:64949); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 64, "publication_id_list": "11279123;11543634;15358359;17803939;18429816;18782833;19524667;19716793;20112406;20186120;20877624;21907147;22172991;2250005;22645359;23481700;24714562;25233460;25576301;25838379;26728094;26992070;27029019;27920218;28218747;28510447;28832583;28834231;28855257;28892042;29242379;29393594;29437277;29493099;29632046;30315122;30410026;30429286;30833945;31222486;31530632;31844290;32157095;32265295;32897882;32938616;32983136;33141586;33243891;33592498;33633747;33717175;33878294;33912179;33936100;33968037;34171305;34357683;34561969;36241641;36302763;36596788;37141370;37217939", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008]., [RefSeq]; 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": "Q96Q58", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9BYN8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1N7-1", "uniprot_id": [ { "id": "S35B3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1N7", "type": "external" } ], "mass": 44593.0, "length": 401, "protein_name": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2", "gene_name": "SLC35B3", "organism": "Human", "refseq_name": "adenosine 3'-phospho 5'-phosphosulfate transporter 2 isoform 1", "refseq_ac": [ { "id": "NP_001136013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136013", "type": "external" } ], "gene_names_uniprotkb": "SLC35B3; C6orf196; CGI-19; PAPST2", "gene_names_refseq": "C6orf196; CGI-19; PAPST2; SLC35B3", "protein_names_uniprotkb": "Adenosine 3'-phospho 5'-phosphosulfate transporter 2; 3'-phosphoadenosine 5'-phosphosulfate transporter; PAPS transporter 2; Solute carrier family 35 member B3", "protein_names_refseq": "3' phosphoadenosine 5' phosphosulfate transporter 2; PAPS transporter 2; adenosine 3'-phospho 5'-phosphosulfate transporter 2 isoform 1; adenosine 3'-phospho 5'-phosphosulfate transporter 2; solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51000); (R-HSA-174362); (R-HSA-727802)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;10393322;11237011;11784306;12626430;12713736;12716889;12759755;15082721;15607426;15911612;16492677;20978009;21211351;23506885;26758079;26992070;27600516;29508533;29557506;30779550;31154438;31844290;31848261;31998317;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33968037;34087483;34211107;35051231;35325049;35561310;35580925;36284347;37938771;7923357;8300633;8619989;8889805;9576487;9668121;9771708", "class_list": "glycogene", "function": "PAPS transporters play a role in the proliferation of colorectal carcinoma cells themselves and take part in a desmoplastic reaction to support cancer growth by controlling their sulfation status., [RefSeq, PubMed]; PAPST2 is a PAPS transporter gene involved in the synthesis of sulfated glycoconjugates in the colon, [RefSeq, PubMed]; Probably functions as a 3'-phosphoadenylyl sulfate:adenosine 3',5'-bisphosphate antiporter at the Golgi membranes. Mediates the transport from the cytosol into the lumen of the Golgi of 3'-phosphoadenylyl sulfate/adenosine 3'-phospho 5'-phosphosulfate (PAPS), a universal sulfuryl donor for sulfation events that take place in that compartment., [UniProtKB, PubMed]; The specifically up-regulated non-coding gene HULC in HepG2 cell line has some effects on the expression of its neighboring gene SLC35B3., [RefSeq, PubMed]; This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 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": 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": 142, "reported_interactions": 0, "missing_score": 9859, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A6NKX9;Q1XH11;Q6MZJ0;Q7Z662;Q9Y308", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0046964 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0055085 transmembrane transport;GO:0046963 3'-phosphoadenosine 5'-phosphosulfate transport;GO:1902558 5'-adenylyl sulfate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9H1N7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2B4-1", "uniprot_id": [ { "id": "S26A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2B4", "type": "external" } ], "mass": 75016.0, "length": 701, "protein_name": "Sulfate anion transporter 1", "gene_name": "SLC26A1", "organism": "Human", "refseq_name": "sulfate anion transporter 1 isoform a", "refseq_ac": [ { "id": "NP_071325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071325", "type": "external" } ], "gene_names_uniprotkb": "SLC26A1; SAT1", "gene_names_refseq": "CAON1; CAON; EDM4; HYSULF; SAT-1; SAT1; SLC26A1", "protein_names_uniprotkb": "Sulfate anion transporter 1; SAT-1; Solute carrier family 26 member 1", "protein_names_refseq": "solute carrier family 26 (anion exchanger), member 1; solute carrier family 26 (sulfate transporter), member 1; sulfate anion tranporter AT1; sulfate anion transporter 1 isoform a; sulfate/anion transporter SAT-1 protein", "tax_id": 9606, "disease": "calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); hypersulfaturia (MONDO:MONDO:0957268)", "pathway": " (hsa:10861); (R-HSA-174362); (R-HSA-427601)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "11087667;11247665;11829495;11834742;12626430;12713736;12716889;12759755;15155570;15591059;16492677;16914891;17119850;17673510;17881426;23506885;24051746;25576301;25645385;27125215;27210743;27412988;29557506;29769354;31154438;33392160;35051231;35325049;35580925;36719378;7683425;7923357;8300633;8619989;8896562;9576487;9668121;9771708", "class_list": "glycogene", "function": "Characterization of the SAT1 gene and protein function., [RefSeq, PubMed]; Mutations in SLC26A1 gene is associated with Nephrolithiasis., [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]; SLC26A1 L348P was associated with lower whole-body bone mineral density (BMD) and higher serum calcium, consistent with the osteochondrodysplasia exhibited by dogs and sheep with naturally occurring, homozygous, loss-of-function mutations in Slc13a1 Publication Status: Online-Only, [RefSeq, PubMed]; SLC26A1 is a major determinant of sulfate homeostasis in humans. Publication Status: Online-Only, [RefSeq, PubMed]; Sodium-independent sulfate anion transporter (PubMed:12713736, PubMed:27125215). Can transport other anions including bicarbonate, thiosulfate and oxalate by mediating sulfate-thiosulfate, sulfate-hydrogencarbonate and sulfate-oxalate anion exchange (PubMed:12713736, PubMed:27125215). Mediates oxalate-hydrogencarbonate anion exchange (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; The expression of three messengers coding for SAT-1, SAT-2 and GalNAcT-1 in human samples of intestinal cancer and some cell lines (breast cancer and melanomas), was evaluated., [RefSeq, PubMed]; This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified. [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": 1033, "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": "A8K9N2;Q7Z5R3;Q96BK0", "ec_number_list": [], "go_molecular_function": "GO:0005452 solute:inorganic anion antiporter activity;GO:0015108 chloride transmembrane transporter activity;GO:0019531 oxalate transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity;GO:0140900 chloride:bicarbonate antiporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0019532 oxalate transport;GO:0006821 chloride transport;GO:1902476 chloride transmembrane transport;GO:1902358 sulfate transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9H2B4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3T3-1", "uniprot_id": [ { "id": "SEM6B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3T3", "type": "external" } ], "mass": 95285.0, "length": 888, "protein_name": "Semaphorin-6B", "gene_name": "SEMA6B", "organism": "Human", "refseq_name": "semaphorin-6B precursor", "refseq_ac": [ { "id": "NP_115484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115484", "type": "external" } ], "gene_names_uniprotkb": "SEMA6B; PRO4353; SEMAN; SEMAZ", "gene_names_refseq": "EPM11; SEM-SEMA-Y; SEM-SEMA-Z; SEMA-VIB; SEMA6B; SEMAN; semaZ", "protein_names_uniprotkb": "Semaphorin-6B; Sema Z; Semaphorin-Z", "protein_names_refseq": "sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B; semaphorin VIB; semaphorin Z; semaphorin-6B precursor; semaphorin-6Ba", "tax_id": 9606, "disease": "progressive myoclonus epilepsy (Disease Ontology:DOID:891); epilepsy, progressive myoclonic, 11 (MONDO:MONDO:0030034)", "pathway": " (hsa:10501)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;11350127;12975309;15177567;15340161;27862975;28228285;29557506;30429286;31154438;32169168;32302524;32387766;32589945;32938616;32983136;33125690;33912179;33968037;34110594;35051231;35580925;35604360;36719163;37217939;37938771", "class_list": "", "function": "(Microbial infection) Acts as a receptor for P.sordellii toxin TcsL in the in the vascular endothelium., [UniProtKB, PubMed, PubMed]; A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures., [RefSeq, PubMed]; Aberrant expression of semaphorin 6B affects cell phenotypes in thyroid carcinoma by activating the Notch signalling pathway., [RefSeq, PubMed]; Functions as a cell surface repellent for mossy fibers of developing neurons in the hippocampus where it plays a role in axon guidance. May function through the PLXNA4 receptor expressed by mossy cell axons., [UniProtKB, UniProtKB]; Gene SEMA6B is strongly down regulated by peroxisome proliferator-activated receptors., [RefSeq, PubMed]; Genome-Wide CRISPR Screen Identifies Semaphorin 6A and 6B as Receptors for Paeniclostridium sordellii Toxin TcsL., [RefSeq, PubMed]; Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes., [RefSeq, PubMed]; SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance., [RefSeq, PubMed]; This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 32, "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": "A5PKU4;F6IB19;Q9NRK9", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0021766 hippocampus development;GO:0007417 central nervous system development;GO:0001755 neural crest cell migration", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9H3T3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H714-5", "uniprot_id": [ { "id": "PACER_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H714", "type": "external" } ], "mass": 73457.0, "length": 662, "protein_name": "Protein associated with UVRAG as autophagy enhancer", "gene_name": "RUBCNL", "organism": "Human", "refseq_name": "protein associated with UVRAG as autophagy enhancer isoform a", "refseq_ac": [ { "id": "NP_001273690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273690", "type": "external" } ], "gene_names_uniprotkb": "RUBCNL; C13orf18; KIAA0226L", "gene_names_refseq": "C13orf18; KIAA0226L; PACER; RUBCNL", "protein_names_uniprotkb": "Protein associated with UVRAG as autophagy enhancer; Pacer; Protein Rubicon-like", "protein_names_refseq": "KIAA0226 like; RUN and cysteine rich domain containing beclin 1 interacting protein like; protein RUBCNL-like; protein Rubicon-like; protein associated with UVRAG as autophagy enhancer isoform a; protein associated with UVRAG as autophagy enhancer; rubicon like autophagy regulator", "tax_id": 9606, "disease": "", "pathway": " (hsa:80183)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "18649358;19843677;21796628;23481700;23522960;26992070;27846572;27920218;28063628;28218747;28306502;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29632046;29632711;30704899;31844290;31848261;32157095;32357974;32387766;32502341;32983136;33141586;33298915;33392160;33691108;33912179;33936100;33968037;34509645;34932366;35051231;37130182;37615625", "class_list": "", "function": "Data suggest that the four-gene methylation panel might provide an alternative triage test after primary high-risk papillomavirus (hr-HPV) testing., [RefSeq, PubMed]; MTORC1 and GSK3-TIP60 signaling converge to modulate autophagosome maturation and lipid metabolism through Pacer., [RefSeq, PubMed]; MYC-activated CERS6-AS1 sponges miR-6838-5p and regulates the expression of RUBCNL in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Methylation of C13orf18 in cervical scrapings is strongly associated with high-grade cervical intraepithelial neoplasia and cervical cancer., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pacer localizes to autophagic structures and positively regulates autophagosome maturation., [RefSeq, PubMed]; Re-activation of C13ORF18 led to partial demethylation of the C13ORF18 promoter and decreased repressive histone methylation., [RefSeq, PubMed]; Regulator of autophagy that promotes autophagosome maturation by facilitating the biogenesis of phosphatidylinositol 3-phosphate (PtdIns(3)P) in late steps of autophagy (PubMed:28306502, PubMed:30704899). Acts by antagonizing RUBCN, thereby stimulating phosphatidylinositol 3-kinase activity of the PI3K/PI3KC3 complex (PubMed:28306502). Following anchorage to the autophagosomal SNARE STX17, promotes the recruitment of PI3K/PI3KC3 and HOPS complexes to the autophagosome to regulate the fusion specificity of autophagosomes with late endosomes/lysosomes (PubMed:28306502). Binds phosphoinositides phosphatidylinositol 3-phosphate (PtdIns(3)P), 4-phosphate (PtdIns(4)P) and 5-phosphate (PtdIns(5)P) (PubMed:28306502). In addition to its role in autophagy, acts as a regulator of lipid and glycogen homeostasis (By similarity). May act as a tumor suppressor (Probable)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; This gene encodes a cysteine-rich protein that contains a putative zinc-RING and/or ribbon domain. The encoded protein is related to Run domain Beclin-1-interacting and cysteine-rich domain-containing protein, which plays a role in endocytic trafficking and autophagy. In cervical cancer cell lines, this gene is expressed at low levels and may function as a tumor suppressor. Promoter hypermethylation of this gene is observed in cervical cancer cell lines and tissue derived from human patients. [provided by RefSeq, Mar 2017]., [RefSeq]; Tumor-derived lactate promotes resistance to bevacizumab treatment by facilitating autophagy enhancer protein RUBCNL expression through histone H3 lysine 18 lactylation (H3K18la) in colorectal 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": 1, "reported_mutagensis": 8, "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": "A8KAG9;A8XR19;B3KS87;Q5W051;Q5W053;Q6PJ74;Q6PK94;Q86XH7;Q8N5J6", "ec_number_list": [], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:1901981 phosphatidylinositol phosphate binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0006629 lipid metabolic process;GO:0019216 regulation of lipid metabolic process;GO:0061909 autophagosome-lysosome fusion;GO:0061910 autophagosome-endosome fusion", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9H714-5", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBV2-1", "uniprot_id": [ { "id": "SACA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBV2", "type": "external" } ], "mass": 32143.0, "length": 294, "protein_name": "Sperm acrosome membrane-associated protein 1", "gene_name": "SPACA1", "organism": "Human", "refseq_name": "sperm acrosome membrane-associated protein 1 precursor", "refseq_ac": [ { "id": "NP_112222", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112222", "type": "external" } ], "gene_names_uniprotkb": "SPACA1; SAMP32", "gene_names_refseq": "SAMP32; SPACA1; SPGF85", "protein_names_uniprotkb": "Sperm acrosome membrane-associated protein 1; Sperm acrosomal membrane-associated protein 32", "protein_names_refseq": "sperm acrosomal membrane-associated protein 32; sperm acrosome membrane-associated protein 1 precursor; sperm acrosome membrane-associated protein 1", "tax_id": 9606, "disease": "spermatogenic failure 85 (Disease Ontology:DOID:0070584)", "pathway": " (hsa:81833)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11870081;25209425;25892735;27185107;33220718;34172998;35051231", "class_list": "", "function": "Bioinformatic prediction of the structure and characteristics of human sperm acrosome membrane-associated protein 1 (hSAMP32) and evaluation of its antifertility function in vivo., [RefSeq, PubMed]; Human posterior head 20 (hPH20) and homo sapiens sperm acrosome associated 1 (hSPACA1) immunocontraceptive epitopes reduced fertility in male/female mice., [RefSeq, PubMed]; Plays a role in acrosome formation and establishment of normal sperm morphology during spermatogenesis (PubMed:34172998). Important for male fertility (PubMed:11870081)., [UniProtKB, PubMed, PubMed]; SAMP32 was associated with the inner acrosomal membrane and recombinant SAMP32 reacted with serum from an infertile man suggesting that it is isoantigenic, [RefSeq, PubMed]; Spaca1 role in male infertility.Distribution of SPACA1 in the sperm affects the outcomes of conventional in vitro fertilization., [RefSeq, PubMed]; The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [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": 3, "reported_mutagensis": 0, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001669 acrosomal vesicle;GO:0002080 acrosomal membrane;GO:0002079 inner acrosomal membrane", "go_biological_process": "GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9HBV2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVS2-1", "uniprot_id": [ { "id": "RT18A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVS2", "type": "external" } ], "mass": 22184.0, "length": 196, "protein_name": "Large ribosomal subunit protein mL66", "gene_name": "MRPS18A", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL66 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001180272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180272", "type": "external" } ], "gene_names_uniprotkb": "MRPS18A", "gene_names_refseq": "HumanS18b; MRP-S18-3; MRP-S18-a; MRPS18-3; MRPS18A; S18bmt; S18mt-a; mL66", "protein_names_uniprotkb": "Large ribosomal subunit protein mL66; 39S ribosomal protein S18-3, mitochondrial; 39S ribosomal protein S18a, mitochondrial; Large ribosomal subunit protein bS18a; MRP-S18-3; MRP-S18-a; Mrps18a; S18mt-a", "protein_names_refseq": "28S ribosomal protein S18-3, mitochondrial; 28S ribosomal protein S18a, mitochondrial; 39S ribosomal protein S18-3, mitochondrial; 39S ribosomal protein S18a, mitochondrial; large ribosomal subunit protein mL66 isoform 2 precursor; mitochondrial large ribosomal subunit protein bS18a; mitochondrial large ribosomal subunit protein bS18m-A; mitochondrial large ribosomal subunit protein mL66; mitochondrial ribosomal protein S18-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:55168); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 39, "publication_id_list": "11237011;11279123;11402041;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;25233460;25278503;25418920;25838379;26811146;27023846;27029019;27920218;28056857;28510447;28892042;28904123;29632046;30779550;31844290;32157095;32391716;33141586;33243891;33878294;34591434;35177605;36302763;36596788;37141370;38665916", "class_list": "", "function": "Expression pattern of MRPS18 family genes in gliomas., [RefSeq, PubMed]; Long Noncoding RNA TRIM52-AS1 Sponges miR-514a-5p to Facilitate Hepatocellular Carcinoma Progression Through Increasing MRPS18A., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]., [RefSeq]; We identified the mitochondrial protein Mrps18a as being upregulated in human breast cancer cells compared to normal breast 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6XND3;Q5QPA4", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome;GO:0070181 small ribosomal subunit rRNA binding", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9NVS2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2P5-1", "uniprot_id": [ { "id": "S27A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2P5", "type": "external" } ], "mass": 75385.0, "length": 690, "protein_name": "Long-chain fatty acid transport protein 5", "gene_name": "SLC27A5", "organism": "Human", "refseq_name": "long-chain fatty acid transport protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001308125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308125", "type": "external" } ], "gene_names_uniprotkb": "SLC27A5; ACSB; ACSVL6; FACVL3; FATP5", "gene_names_refseq": "ACSB; ACSVL6; BACS; BAL; FACVL3; FATP-5; FATP5; SLC27A5; VLACSR; VLCS-H2; VLCSH2", "protein_names_uniprotkb": "Long-chain fatty acid transport protein 5; 6.2.1.-; 6.2.1.3; 6.2.1.7; BA-CoA ligase; BACS; BAL; Bile acid-CoA ligase; Bile acyl-CoA synthetase; Cholate--CoA ligase; FATP-5; Fatty acid transport protein 5; Fatty-acid-coenzyme A ligase, very long-chain 3; Long-chain-fatty-acid--CoA ligase; Solute carrier family 27 member 5; VLACS-related; VLACSR; VLCS-H2; VLCSH2; Very long-chain acyl-CoA synthetase homolog 2; Very long-chain acyl-CoA synthetase-related protein", "protein_names_refseq": "BA-CoA ligase; VLACS-related; bile acid-CoA ligase; bile acyl-CoA synthetase; cholate--CoA ligase; fatty acid transport protein 5; fatty-acid-Coenzyme A ligase, very long-chain 3; long-chain fatty acid transport protein 5 isoform 2; long-chain fatty acid transport protein 5; long-chain-fatty-acid--CoA ligase; solute carrier family 27 (fatty acid transporter), member 5; very long-chain acyl-CoA synthetase homolog 2; very long-chain acyl-CoA synthetase-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10998); (R-HSA-159418); (R-HSA-193368); (R-HSA-193775)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10051404;10092594;10334992;10334993;10358072;10377398;10479480;10601278;10655068;10748047;10749848;10884298;10987286;11060344;11067870;11158055;11159893;11237011;11387316;11673457;11870371;11980911;12220224;12393883;12404239;12404240;12486725;12663868;12679481;12704183;12815072;13416382;1400444;14640697;14699511;16317684;16541101;16908160;1708392;17650074;2019602;2037576;20448275;20530735;23018617;23337244;2384150;24275569;26024233;26992070;28514659;29242379;29557506;30315122;30410026;31844290;32387766;32938616;33633747;33912179;33936100;33968037;34171305;34405274;34433824;34509645;35051231;36635256;37957540;38059827;38157255;7077161;7508385;7557095;7588781;7649182;8034703;8132774;8387517;8902629;8943006;9660774", "class_list": "", "function": "Copper metabolism-related risk score identifies hepatocellular carcinoma subtypes and SLC27A5 as a potential regulator of cuproptosis., [RefSeq, PubMed]; Loss of SLC27A5 Activates Hepatic Stellate Cells and Promotes Liver Fibrosis via Unconjugated Cholic Acid., [RefSeq, PubMed]; May mediate the import of long-chain fatty acids (LCFA) by facilitating their transport across cell membranes (PubMed:20448275, PubMed:20530735). Also catalyzes the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates (PubMed:10479480). Mainly functions as a bile acyl-CoA synthetase catalyzing the activation of bile acids via ATP-dependent formation of bile acid CoA thioesters which is necessary for their subsequent conjugation with glycine or taurine (PubMed:10749848, PubMed:11980911). Both primary bile acids (cholic acid and chenodeoxycholic acid) and secondary bile acids (deoxycholic acid and lithocholic acid) are the principal substrates (PubMed:10749848, PubMed:11980911). In vitro, activates 3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanate ((25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate or THCA), the C27 precursor of cholic acid deriving from the de novo synthesis from cholesterol (PubMed:11980911). Plays an important role in hepatic fatty acid uptake and bile acid reconjugation and recycling but not in de novo synthesis of bile acids (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Metabolic Enzyme SLC27A5 Regulates PIP4K2A pre-mRNA Splicing as a Noncanonical Mechanism to Suppress Hepatocellular Carcinoma Metastasis., [RefSeq, PubMed]; SLC27A5 promotes sorafenib-induced ferroptosis in hepatocellular carcinoma by downregulating glutathione reductase. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [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": 0, "reported_glycation": 0, "reported_snv": 20, "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": "B3KVP6;B4DPQ1", "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" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.76", "type": "external" } ], "go_molecular_function": "GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0005524 ATP binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0031957 very long-chain fatty acid-CoA ligase activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0009925 basal plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0000038 very long-chain fatty acid metabolic process;GO:0001676 long-chain fatty acid metabolic process;GO:0006699 bile acid biosynthetic process;GO:0015721 bile acid and bile salt transport;GO:0044539 long-chain fatty acid import into cell", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9Y2P5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y399-1", "uniprot_id": [ { "id": "RT02_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y399", "type": "external" } ], "mass": 33249.0, "length": 296, "protein_name": "Small ribosomal subunit protein uS2m", "gene_name": "MRPS2", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS2m", "refseq_ac": [ { "id": "NP_057118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057118", "type": "external" } ], "gene_names_uniprotkb": "MRPS2; CGI-91", "gene_names_refseq": "CGI-91; COXPD36; MRP-S2; MRPS2; S2mt; uS2m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS2m; 28S ribosomal protein S2, mitochondrial; MRP-S2; S2mt", "protein_names_refseq": "28S ribosomal protein S2, mitochondrial; mitochondrial small ribosomal subunit protein uS2m; small ribosomal subunit protein uS2m", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); combined oxidative phosphorylation deficiency 36 (Disease Ontology:DOID:0111482)", "pathway": " (hsa:51116); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9837999); (R-HSA-9937383)", "pathway_count": 6, "publication_count": 88, "publication_id_list": "11237011;11279123;11402041;11923310;12198491;14623864;15358359;15522782;15870080;16115876;17101804;17297443;17579211;17803939;18429816;18782833;19524667;19716793;19841671;20068231;20186120;20877624;21907147;22172991;22262461;2250005;22710082;23201127;23481700;23931759;24315374;24520911;25233460;25645385;25838379;26154972;26504172;26923599;26992070;27029019;27496948;27600516;27642048;28228285;28377575;28396416;28510447;28514659;28834231;28892042;28904123;29242379;29301859;29393594;29508533;29576219;29932645;30120231;30192525;31222486;31327635;31695197;31844290;31848261;32357974;32387766;32502341;32897882;32938616;33141586;33243891;33257573;33298915;33878294;33968037;34087483;34405274;34509645;34704252;34943861;35051231;35870450;36302763;36596788;36629048;37141370;40914422;7623837", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Required for mitoribosome formation and stability, and mitochondrial translation., [UniProtKB, PubMed]; The identification of MRPS2 as an additional gene related to mitochondrial disease further expands the genetic and phenotypic spectra of Oxidative phosphorylation deficiencies caused by impaired mitochondrial 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T899;Q9BSQ4", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0015935 small ribosomal subunit", "go_biological_process": "GO:0032543 mitochondrial translation;GO:0061668 mitochondrial ribosome assembly;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "Q9Y399-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3B4-1", "uniprot_id": [ { "id": "SF3B6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3B4", "type": "external" } ], "mass": 14585.0, "length": 125, "protein_name": "Splicing factor 3B subunit 6", "gene_name": "SF3B6", "organism": "Human", "refseq_name": "splicing factor 3B subunit 6", "refseq_ac": [ { "id": "NP_057131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057131", "type": "external" } ], "gene_names_uniprotkb": "SF3B6; CGI-110; HSPC175; HT006; SAP14; SF3B14A; SF3B14", "gene_names_refseq": "CGI-110; HSPC175; Ht006; P14; SAP14a; SAP14; SF3B14a; SF3B14; SF3B6", "protein_names_uniprotkb": "Splicing factor 3B subunit 6; Pre-mRNA branch site protein p14; SF3B14a; SF3b 14 kDa subunit; Spliceosome-associated protein, 14-kDa; Splicing factor 3b, subunit 6, 14kDa", "protein_names_refseq": "SF3b 14 kDa subunit; pre-mRNA branch site protein p14; spliceosome-associated protein, 14 kDa subunit; spliceosome-associated protein, 14-kDa; splicing factor 3B subunit 6; splicing factor 3B, 14 kDa subunit; splicing factor 3b, subunit 6, 14kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:51639); (R-HSA-72163); (R-HSA-72165); (R-HSA-9770562); (R-HSA-9918481); (R-HSA-9943411)", "pathway_count": 6, "publication_count": 210, "publication_id_list": "10199952;10207048;10669729;10882114;10931946;11014198;11060040;11101529;11233976;11333026;11500380;11607023;11747608;11991638;12176931;12234937;12411573;12414731;12477934;12682017;12738865;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15146077;15565158;15592455;15647753;16263726;16314458;16372014;16432215;16809785;17095540;17128255;17332742;17433364;17606899;17717186;17940139;18042460;18288197;18322460;18446792;18593880;19052544;19103666;19165350;19217410;19536130;19608861;20211137;20423332;20695905;20980672;21062891;21295486;21536652;2176635;21911577;22046413;22110043;22365833;22569126;22813749;22922743;22959432;22961380;23222130;23236153;23301498;23345524;23783831;23874216;24076191;24149845;24196718;24304693;24448447;24715725;24737827;24914973;2524422;25301780;25301781;25418920;25555158;25576301;2558966;25645385;25755297;25880248;26092250;26154972;26385511;26420826;26758079;26811146;26929215;26969736;26992070;27108190;27377154;27459055;27510544;27661449;27683217;27720643;27920218;28062851;28076346;28096519;28228285;28502770;28510447;28514659;28541300;28781166;28832583;28855257;28904123;28911096;29186539;29242379;29274231;29301961;29331515;29360106;29361316;29371260;29508533;29557506;29632046;29632711;2963332;29786170;29902443;30139799;30257008;30315122;30315277;30429286;30484775;30599162;30705154;30728453;30765414;30779550;30833945;30975767;31092671;31409651;31844290;31848261;32157095;32161166;32179686;32329775;32350084;32357974;32387766;32494006;32816001;32897882;33141586;33177556;33243851;33446560;33509932;33592498;33717175;33912179;33936100;33968037;34019948;34171305;34185709;34229054;34301950;34357683;34822310;35083852;35177536;35215846;35251023;35318648;35385551;35580925;36010968;36215666;37217939;3757028;37938771;40930100;8566756;8608946;8835860;9016565;9242493;9512519;9524131;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre-mRNA branch-site adenosine, the nucleophile for the first step of splicing (PubMed:12234937, PubMed:32494006, PubMed:34822310). Within the 17S U2 SnRNP complex, SF3B6 is part of the SF3B subcomplex, which is required for 'A' complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence in pre-mRNA (PubMed:12234937, PubMed:27720643). Sequence independent binding of SF3A and SF3B subcomplexes upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA (PubMed:12234937). Within the 17S U2 SnRNP complex, SF3B6 directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing (PubMed:16432215). SF3B6 stabilizes the intron branch site-U2 snRNA duplex, thereby promoting-binding of introns with poor sequence complementarity (PubMed:34822310). Also acts as a component of the minor spliceosome, which is involved in the splicing of U12-type introns in pre-mRNAs (PubMed:15146077, PubMed:33509932)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a 14 kDa protein subunit of the splicing factor 3b complex. Splicing factor 3b associates with both the U2 and U11/U12 small nuclear ribonucleoprotein complexes (U2 snRNP) of spliceosomes. This 14 kDa protein interacts directly with subunit 1 of the splicing factor 3b complex. This 14 kDa protein also interacts directly with the adenosine that carries out the first transesterification step of splicing at the pre-mRNA branch site. [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": 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": "Q53TM1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005689 U12-type spliceosomal complex;GO:0005684 U2-type spliceosomal complex", "go_biological_process": "GO:0000387 spliceosomal snRNP assembly;GO:0000398 mRNA splicing, via spliceosome;GO:0000388 spliceosome conformational change to release U4 (or U4atac) and U1 (or U11);GO:1903241 U2-type prespliceosome assembly", "synthesized_glycan_count": 0, "hit_score": 21.3, "record_id": "Q9Y3B4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95025-1", "uniprot_id": [ { "id": "SEM3D_HUMAN", "url": "https://www.uniprot.org/uniprot/O95025", "type": "external" } ], "mass": 89651.0, "length": 777, "protein_name": "Semaphorin-3D", "gene_name": "SEMA3D", "organism": "Human", "refseq_name": "semaphorin-3D precursor", "refseq_ac": [ { "id": "NP_689967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689967", "type": "external" } ], "gene_names_uniprotkb": "SEMA3D; PRO1491", "gene_names_refseq": "SEMA3D; Sema-Z2; coll-2", "protein_names_uniprotkb": "Semaphorin-3D", "protein_names_refseq": "collapsin 2; sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D; semaphorin-3D precursor", "tax_id": 9606, "disease": "childhood-onset asthma (Disease Ontology:DOID:0080815)", "pathway": " (hsa:223117)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;18818766;19054571;19664994;20684831;25645385;27846572;28320475;29074988;29557506;29632046;32350084;33214551;33592498;34019948;35051231;35190928;35251023;37219490;39413197", "class_list": "", "function": "Induces the collapse and paralysis of neuronal growth cones. Could potentially act as repulsive cues toward specific neuronal populations. Binds to neuropilin (By similarity)., [UniProtKB]; Low SEMA3D expression is associated with colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SEMA3D mRNA is expressed mainly in the cytoplasm of the endometrial cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Sema3D inhibits tumor development from MDA-MB-231 and MDA-MB-435 cancer cells. It inhibits tumor angiogenesis in all of the formed tumors. Publication Status: Online-Only, [RefSeq, PubMed]; Semaphorin 3D inhibits proliferation and migration of papillary thyroid carcinoma by regulating MAPK/ERK signaling pathway. Erratum:[Mol Biol Rep. 2026 Feb 20;53(1):402. doi: 10.1007/s11033-026-11500-y. PMID: 41718911], [RefSeq, PubMed]; Semaphorin 3D promotes pancreatic ductal adenocarcinoma progression and metastasis through macrophage reprogramming., [RefSeq, PubMed]; This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin like domain and a C-terminal basic domain. The protein encoded by this gene binds neuropilin and plays an important role in cardiovascular development. [provided by RefSeq, Aug 2016]., [RefSeq]; This study provided strong evidence that SEMA3D confers susceptibility to schizophrenia, which could contribute to the neurodevelopmental impairments in the disorder. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Tumor-derived semaphorin 3D promoting cancer cachexia via regulating hypothalamic pro-opiomelanocortin neurons., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 43, "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": "A6NK46;Q6UW77;Q8NCQ1", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0030900 forebrain development;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration;GO:0050919 negative chemotaxis", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O95025-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60939-1", "uniprot_id": [ { "id": "SCN2B_HUMAN", "url": "https://www.uniprot.org/uniprot/O60939", "type": "external" } ], "mass": 24326.0, "length": 215, "protein_name": "Sodium channel regulatory subunit beta-2", "gene_name": "SCN2B", "organism": "Human", "refseq_name": "sodium channel regulatory subunit beta-2 precursor", "refseq_ac": [ { "id": "NP_004579", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004579", "type": "external" } ], "gene_names_uniprotkb": "SCN2B; PRO386", "gene_names_refseq": "ATFB14; SCN2B", "protein_names_uniprotkb": "Sodium channel regulatory subunit beta-2", "protein_names_refseq": "neuronal voltage-gated sodium channel beta 2 subunit; sodium channel regulatory subunit beta-2 precursor; sodium channel regulatory subunit beta-2; sodium channel, voltage gated, type II beta subunit; sodium channel, voltage-gated, type II, beta polypeptide", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); otitis media (Disease Ontology:DOID:10754)", "pathway": " (hsa:6327); (R-HSA-445095); (R-HSA-5576892); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 63, "publication_id_list": "10761935;11222639;11237011;11290418;11917125;12015988;12975309;1309946;1325650;14500339;14634208;15000524;15353592;15385606;15738140;16597699;16904324;17167479;17223356;17506496;18184654;18510355;19104071;19406745;19696921;19808477;20022913;20033988;21127204;21422378;21566136;21795555;21817159;22054663;22514276;22992729;23559163;23632330;23804213;24157691;24214976;24360415;24633359;25853419;26377607;26894959;28256214;29466837;29659026;29744740;30013099;30563861;30765605;30765606;34320850;35277491;36823201;7720699;8107964;8288584;9065781;9295116;9887383", "class_list": "", "function": "A novel gain-of-function sodium channel beta2 subunit mutation in idiopathic small fiber neuropathy., [RefSeq, PubMed]; Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes (PubMed:19808477, PubMed:23559163, PubMed:26894959, PubMed:30765605, PubMed:30765606, PubMed:35277491, PubMed:36823201). Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:19808477, PubMed:23559163, PubMed:26894959). The accessory beta subunits participate in localization and functional modulation of the Nav channels (PubMed:19808477, PubMed:23559163). Modulates the activity of SCN1A/Nav1.1, SCN2A/Nav1.2, SCN2A/Nav1.3, SCN5A/Nav1.5, SCN8A/Nav1.6, SCN9A/Nav1.7 and SCN10A/Nav1.8 (PubMed:19808477, PubMed:23559163, PubMed:26894959, PubMed:30765605, PubMed:30765606, PubMed:35277491, PubMed:36823201)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or sudden infant death syndrome. [provided by RefSeq, Jul 2015]., [RefSeq]; This study reports the cryo-electron microscopy structures of the human Nav1.7-beta1-beta2 complex bound to two combinations of pore blockers and gating modifier toxins (GMTs), tetrodotoxin with protoxin-II and saxitoxin with huwentoxin-IV, both determined at overall resolutions of 3.2 angstroms., [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": 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "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": "O75302;Q9UNN3", "ec_number_list": [], "go_molecular_function": "GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization;GO:0017080 sodium channel regulator activity;GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0030315 T-tubule;GO:0033268 node of Ranvier;GO:0043194 axon initial segment", "go_biological_process": "GO:0007399 nervous system development;GO:0042391 regulation of membrane potential;GO:0007268 chemical synaptic transmission;GO:0086010 membrane depolarization during action potential;GO:0086091 regulation of heart rate by cardiac conduction", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "O60939-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76038-1", "uniprot_id": [ { "id": "SEGN_HUMAN", "url": "https://www.uniprot.org/uniprot/O76038", "type": "external" } ], "mass": 32040.0, "length": 276, "protein_name": "Secretagogin", "gene_name": "SCGN", "organism": "Human", "refseq_name": "secretagogin", "refseq_ac": [ { "id": "NP_008929", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008929", "type": "external" } ], "gene_names_uniprotkb": "SCGN; SECRET", "gene_names_refseq": "CALBL; DJ501N12.8; SCGN; SECRET; SEGN; setagin", "protein_names_uniprotkb": "Secretagogin", "protein_names_refseq": "secretagogin", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:10590)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10811645;11709487;15237930;15766553;30379171;31512254;31663849;36588101", "class_list": "", "function": "Differential expression of secretagogin immunostaining in the hippocampal formation and the entorhinal and perirhinal cortices of humans, rats, and mice., [RefSeq, PubMed]; In this study, the authors report the identification of an ultrarare missense variant (NM_006998.3:c.230G > A;p.Arg77His) in the SCGN gene causing Mendelian early-onset ulcerative colitis. Publication Status: Online-Only, [RefSeq, PubMed]; SCGN deficiency is a risk factor for autism spectrum disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Secretagogin might play a role in human non-functional pituitary adenomas. This novel finding may provide clues to clarify the basic molecular mechanisms of pituitary adenoma formation, and to identify new tumor-related markers., [RefSeq, PubMed]; The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]., [RefSeq]; Two new variants of the recently identified hexa-EF-hand calcium binding protein secretagogin, [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": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K0B2;Q5VV44;Q96QV7;Q9UJF6", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030425 dendrite", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "O76038-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35499-1", "uniprot_id": [ { "id": "SCN4A_HUMAN", "url": "https://www.uniprot.org/uniprot/P35499", "type": "external" } ], "mass": 208061.0, "length": 1836, "protein_name": "Sodium channel protein type 4 subunit alpha", "gene_name": "SCN4A", "organism": "Human", "refseq_name": "sodium channel protein type 4 subunit alpha", "refseq_ac": [ { "id": "NP_000325", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000325", "type": "external" } ], "gene_names_uniprotkb": "SCN4A", "gene_names_refseq": "CMS16; CMYO22A; CMYP22A; HOKPP2; HYKPP; HYPP; NAC1A; Na(V)1.4; Nav1.4; SCN4A; SkM1", "protein_names_uniprotkb": "Sodium channel protein type 4 subunit alpha; SkM1; Sodium channel protein skeletal muscle subunit alpha; Sodium channel protein type IV subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.4", "protein_names_refseq": "CTC-264K15.6; skeletal muscle sodium channel alpha subunit; skeletal muscle voltage-dependent sodium channel type IV alpha subunit; sodium channel protein skeletal muscle subunit alpha; sodium channel protein type 4 subunit alpha; sodium channel protein type IV subunit alpha; sodium channel, voltage-gated, type IV, alpha subunit; voltage-gated sodium channel subunit alpha Nav1.4", "tax_id": 9606, "disease": "generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); Dravet syndrome (Disease Ontology:DOID:0080422); congenital myopathy 22A (Disease Ontology:DOID:0081354); congenital myopathy 22B (Disease Ontology:DOID:0081355); congenital myasthenic syndrome 16 (Disease Ontology:DOID:0110682); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); paramyotonia congenita of Von Eulenburg (Disease Ontology:DOID:0111538); hyperkalemic periodic paralysis (Disease Ontology:DOID:14451); hypokalemic periodic paralysis (Disease Ontology:DOID:14452); epilepsy (Disease Ontology:DOID:1826); potassium-aggravated myotonia (MONDO:MONDO:0018959)", "pathway": " (hsa:6329); (R-HSA-445095); (R-HSA-5576892)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10.1101/2023.09.13.557529;10218481;10369308;10599760;10727489;10851391;10944223;11222639;11290418;11558801;11591859;12766226;1309946;1310396;1310898;1315496;1316765;1338909;1339144;14500339;15000524;15318338;15596759;15790667;1659668;16597699;1659948;16786525;16832098;16890191;16904324;17212350;17223356;17898326;17998485;18046642;18162704;18166706;18184654;18203179;18337100;18690054;19015483;19077043;19118277;19347921;19406745;20076800;20522878;21043388;21127204;21566136;21817159;22054663;22514276;23804213;24497506;24549961;25660391;25707578;26427606;26659129;26700687;26992070;27535533;27653901;28262468;28514659;29557506;29671580;29741879;29992740;30190309;31548259;31844290;32161166;32387766;32938616;33298915;33392160;33912179;33968037;34087483;35051231;36090556;37074911;37117223;37899345;38427496;38544349;38565511;7695243;8058156;8107964;8242056;8308722;8315383;8388676;8580427;9266738;9392583", "class_list": "", "function": "A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia., [RefSeq, PubMed]; Idiopathic generalized epilepsy in a family with SCN4A-related myotonia., [RefSeq, PubMed]; Pore-forming subunit of Nav1.4, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:12766226, PubMed:15318338, PubMed:16890191, PubMed:17898326, PubMed:18690054, PubMed:19347921, PubMed:25707578, PubMed:26659129, PubMed:26700687, PubMed:29992740, PubMed:30190309). Highly expressed in skeletal muscles, Nav1.4 generates the action potential crucial for muscle contraction (PubMed:16890191, PubMed:19347921, PubMed:25707578, PubMed:26659129, PubMed:26700687)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq, Jul 2008]., [RefSeq]; [Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]., [RefSeq, PubMed]; [Two cases of potassium-aggravated myotonia induced by SCN4A gene variation]., [RefSeq, PubMed]", "predicted_glycosites": 10, "predicted_n_glycosites": 8, "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": 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": 105, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 8, "disease_count": 11, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q15478;Q16447;Q7Z6B1", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005248 voltage-gated sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0001518 voltage-gated sodium channel complex", "go_biological_process": "GO:0006936 muscle contraction;GO:0035725 sodium ion transmembrane transport;GO:0006814 sodium ion transport;GO:0086002 cardiac muscle cell action potential involved in contraction;GO:0100001 regulation of skeletal muscle contraction by action potential", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P35499-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48061-1", "uniprot_id": [ { "id": "SDF1_HUMAN", "url": "https://www.uniprot.org/uniprot/P48061", "type": "external" } ], "mass": 10666.0, "length": 93, "protein_name": "Stromal cell-derived factor 1", "gene_name": "CXCL12", "organism": "Human", "refseq_name": "stromal cell-derived factor 1 isoform beta precursor", "refseq_ac": [ { "id": "NP_000600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000600", "type": "external" } ], "gene_names_uniprotkb": "CXCL12; SDF1A; SDF1B; SDF1", "gene_names_refseq": "CXCL12; IRH; PBSF; SCYB12; SDF1; TLSF; TPAR1", "protein_names_uniprotkb": "Stromal cell-derived factor 1; C-X-C motif chemokine 12; IRH; Intercrine reduced in hepatomas; PBSF; Pre-B cell growth-stimulating factor; SDF-1; hIRH; hSDF-1", "protein_names_refseq": "chemokine (C-X-C motif) ligand 12; intercrine reduced in hepatomas; pre-B cell growth-stimulating factor; stromal cell-derived factor 1 isoform beta precursor; stromal cell-derived factor 1", "tax_id": 9606, "disease": "traumatic brain injury (Disease Ontology:DOID:0081292); prostate cancer (Disease Ontology:DOID:10283); diabetic angiopathy (Disease Ontology:DOID:11713); status epilepticus (Disease Ontology:DOID:1824); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); larynx cancer (Disease Ontology:DOID:2596); breast carcinoma (Disease Ontology:DOID:3459); insulinoma (Disease Ontology:DOID:3892); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); myocardial infarction (Disease Ontology:DOID:5844); periodontitis (Disease Ontology:DOID:824); diabetic retinopathy (Disease Ontology:DOID:8947); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:6387); (R-HSA-1251985); (R-HSA-376176); (R-HSA-380108); (R-HSA-418594); (R-HSA-9018519)", "pathway_count": 6, "publication_count": 237, "publication_id_list": "10102266;10102268;10229797;10446158;10500157;10640743;10706668;10725696;10725697;10781587;10828826;10873660;10892742;10954912;11007482;11010967;11034064;11060282;11069075;11103799;11136970;11165043;11345900;11375980;11410592;11452016;11581164;11679632;11682626;11859124;12120503;12149255;12498683;12508280;12554737;12612073;12807903;12884299;12949249;12959972;14525775;14631847;14675539;15001666;15023535;15063764;15067078;15276198;15282324;15343269;15345050;15514030;15534001;15588815;15741341;15951850;15986123;16009131;16046058;16061658;16087863;16107333;16113099;1630819;16344560;16626895;16634148;16725153;16912174;16923326;16980581;17013392;17018285;17264079;17277772;17357154;1744577;17463000;17495528;17510434;17565045;17637753;17666587;17690249;18187655;18219272;18256232;18322535;18358809;1840701;18434541;18476782;18533032;18577758;18653779;18762174;18799424;18802065;18805503;1891716;19001364;19020303;19047365;19098913;19255243;19274700;19295514;19321454;19383337;19551879;19596786;19718048;20002784;20077567;20219941;20220130;20375348;20498280;20501749;20570965;20682797;2078213;21106759;21151129;21445275;21573489;21802105;2181374;21835891;21878914;21934649;21940756;22056668;2217207;22265404;22457824;22492511;22545144;22704330;23145106;23172872;23192763;23230144;23303788;23403292;23435229;23723241;23906331;24167369;2423119;24308844;24371278;24735615;24829397;24854081;24885040;24973012;24998469;25296600;2534964;25365482;25433557;25542856;25633194;25663755;25674852;25728767;26056233;26153859;26204489;26462610;26479350;27044744;27062924;27439769;2748346;27886276;2834384;28539435;2919170;29242379;29301984;29557506;2970963;29786170;29789417;3045126;3098319;31848261;3260265;3281094;32983136;3498214;3677090;38726826;38927649;39093700;39273501;7490086;7559524;7602097;7622448;7642634;7679328;7851893;7875320;7935485;7937828;7937899;8015379;8048929;8195246;8197458;8383238;8406495;8419924;8639485;8752281;8849694;8876171;9024663;9164944;9166430;9169459;9201922;9207005;9276730;9338790;9384579;9388265;9390561;9427609;9463416;9611253;9618518;9671459;9731700", "class_list": "", "function": "CXCL12 Gene Polymorphisms and Serum Levels: Associations with Multiple Sclerosis Prevalence and Clinical Parameters in Lithuania. Publication Status: Online-Only, [RefSeq, PubMed]; CXCL12 displays antimicrobial activity against E. coli and S. aureus., [RefSeq, PubMed]; Chemoattractant active on T-lymphocytes and monocytes but not neutrophils (PubMed:18802065, PubMed:39093700). Activates the C-X-C chemokine receptor CXCR4 to induce a rapid and transient rise in the level of intracellular calcium ions and chemotaxis (PubMed:8752281, PubMed:18802065, PubMed:39093700). Also binds to atypical chemokine receptor ACKR3, which activates the beta-arrestin pathway and acts as a scavenger receptor for CXCL12/SDF-1 (PubMed:16107333, PubMed:19255243). Binds to the allosteric site (site 2) of integrins and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1 in a CXCR4-independent manner (PubMed:29301984). Acts as a positive regulator of monocyte migration and a negative regulator of monocyte adhesion via the LYN kinase (PubMed:18802065). Stimulates migration of monocytes and T-lymphocytes through its receptors, CXCR4 and ACKR3, and decreases monocyte adherence to surfaces coated with ICAM-1, a ligand for beta-2 integrins (PubMed:16107333, PubMed:18802065, PubMed:19255243, PubMed:39093700). CXCR4 signaling axis inhibits beta-2 integrin LFA-1 mediated adhesion of monocytes to ICAM-1 through LYN kinase (PubMed:18802065). Inhibits CXCR4-mediated infection by T-cell line-adapted HIV-1 (PubMed:8752281). Plays a protective role after myocardial infarction. Induces down-regulation and internalization of ACKR3 expressed in various cells. Has several critical functions during embryonic development; required for B-cell lymphopoiesis, myelopoiesis in bone marrow and heart ventricular septum formation (By similarity). Stimulates the proliferation of bone marrow-derived B-cell progenitors in the presence of IL7 as well as growth of stromal cell-dependent pre-B-cells (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; PON1, APOE and SDF-1 Gene Polymorphisms and Risk of Retinal Vein Occlusion: A Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; SDF-1 promotes metastasis of NSCLC by enhancing chemoattraction of megakaryocytes through the PI3K/Akt signaling pathway., [RefSeq, PubMed]; Shows a reduced chemotactic activity (PubMed:14525775). Binding to cell surface proteoglycans seems to inhibit formation of SDF-1-alpha(3-67) and thus to preserve activity on local sites (PubMed:14525775)., [UniProtKB, PubMed]; Shows a reduced chemotactic activity., [UniProtKB, PubMed]; The current review explores the different biological properties of CXCL12 and discusses the implications of CXCL12-based therapies for autoimmunity and cancer diseases. Review article, [RefSeq, PubMed]; This antimicrobial gene encodes a stromal cell-derived alpha chemokine member of the intercrine family. The encoded protein functions as the ligand for the G-protein coupled receptor, chemokine (C-X-C motif) receptor 4, and plays a role in many diverse cellular functions, including embryogenesis, immune surveillance, inflammation response, tissue homeostasis, and tumor growth and metastasis. Mutations in this gene are associated with resistance to human immunodeficiency virus type 1 infections. Multiple transcript variants encoding different isoforms have been found 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 47, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "prognostic", "glycan_count": 0, "disease_count": 17, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4G0;E7EVL0;H7BYN8;Q2L985;Q2L986;Q2L988;Q5IT36;Q6ICW0;Q9H554", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005178 integrin binding;GO:0008083 growth factor activity;GO:0008009 chemokine activity;GO:0042379 chemokine receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:1990869 cellular response to chemokine;GO:0008064 regulation of actin polymerization or depolymerization;GO:2000669 negative regulation of dendritic cell apoptotic process;GO:0006935 chemotaxis;GO:0006952 defense response", "synthesized_glycan_count": 0, "hit_score": 23.8, "record_id": "P48061-1", "record_type": "protein", "filter_code": "0001000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58005-1", "uniprot_id": [ { "id": "SESN3_HUMAN", "url": "https://www.uniprot.org/uniprot/P58005", "type": "external" } ], "mass": 57291.0, "length": 492, "protein_name": "Sestrin-3", "gene_name": "SESN3", "organism": "Human", "refseq_name": "sestrin-3 isoform 2", "refseq_ac": [ { "id": "NP_001258523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258523", "type": "external" } ], "gene_names_uniprotkb": "SESN3; SEST3", "gene_names_refseq": "SESN3; SEST3", "protein_names_uniprotkb": "Sestrin-3; 1.11.1.-", "protein_names_refseq": "sestrin-3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:143686); (R-HSA-5628897)", "pathway_count": 2, "publication_count": 113, "publication_id_list": "10329961;10716435;10745013;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11959846;12161445;12203114;12438239;12453409;12607115;12714747;12869586;12906785;13298683;13538944;14651849;15105503;15223;15589136;16140933;16413492;16636147;16728594;16760263;16839880;17298220;17486094;17540029;18198340;18344994;18507432;18692468;19113821;19439913;19487573;19822145;20080666;20182617;20351271;20378837;20412774;21750704;21958598;22363791;23481700;23775793;24066844;24366874;24383451;24718924;25259925;25263562;25418920;25579166;25645385;25880248;26449471;26652033;26811146;26992070;27600516;28228285;28832583;28834231;28855257;28904123;29393594;29493099;29557506;29632046;29786170;30315122;30429286;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33082554;33298915;33592498;33912179;33968037;34171305;34409922;34509645;34932366;34979914;35051231;35580925;36010968;36284347;37918578;37938771;39266717;5666113;7979252;7989588;8119488;9926927", "class_list": "", "function": "Colon and liver tissue damage detection using methylated SESN3 and PTK2B genes in circulating cell-free DNA in patients with acute graft-versus-host disease. Erratum:[Bone Marrow Transplant. 2021 Oct;56(10):2616. doi: 10.1038/s41409-021-01405-8. PMID: 34413471], [RefSeq, PubMed]; FoxOs inhibit mTORC1 and activate Akt by inducing the expression of Sestrin3 and Rictor, [RefSeq, PubMed]; Genetic variations in a Sestrin2/Sestrin3/mTOR Axis and development of new-onset diabetes after kidney transplantation., [RefSeq, PubMed]; Inhibition of nucleo-cytoplasmic proteasome translocation by the aromatic amino acids or silencing Sestrin3-their sensing mediator-is tumor suppressive., [RefSeq, PubMed]; May function as an intracellular leucine sensor that negatively regulates the TORC1 signaling pathway (PubMed:25263562). May also regulate the insulin-receptor signaling pathway through activation of TORC2 (By similarity). This metabolic regulator may also play a role in protection against oxidative and genotoxic stresses (By similarity). May prevent the accumulation of reactive oxygen species (ROS) through the alkylhydroperoxide reductase activity born by the N-terminal domain of the protein (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Oncogenic role of early growth response-1 in liver cancer through the regulation of the microRNA-675/sestrin 3 and the Wnt/beta-catenin signaling pathway., [RefSeq, PubMed]; The functions and roles of sestrins in regulating human diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 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": 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": "B7Z7P9;Q96AD1", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" }, { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" } ], "go_molecular_function": "GO:0016684 oxidoreductase activity, acting on peroxide as acceptor;GO:0070728 L-leucine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031932 TORC2 complex", "go_biological_process": "GO:0042593 glucose homeostasis;GO:0032868 response to insulin;GO:0042149 cellular response to glucose starvation;GO:0016239 positive regulation of macroautophagy;GO:0034198 cellular response to amino acid starvation", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "P58005-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02383-1", "uniprot_id": [ { "id": "SEMG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02383", "type": "external" } ], "mass": 65444.0, "length": 582, "protein_name": "Semenogelin-2", "gene_name": "SEMG2", "organism": "Human", "refseq_name": "semenogelin-2 precursor", "refseq_ac": [ { "id": "NP_002999", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002999", "type": "external" } ], "gene_names_uniprotkb": "SEMG2", "gene_names_refseq": "SEMG2; SGII", "protein_names_uniprotkb": "Semenogelin-2; SGII; Semenogelin II", "protein_names_refseq": "semenogelin II; semenogelin-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6407)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "14629036;1517240;1584792;18714013;19089943;21557275;22177559;26791533;2757795;28411811;29493099;30237853;30397120;31611695;33311447;33936100;34171305;8665951;8665956", "class_list": "", "function": "Antibacterial activity of the semenogelin-derived peptides generated in seminal plasma was strictly zinc-dependent both at neutral and low pH, [RefSeq, PubMed]; Participates in the formation of a gel matrix (sperm coagulum) entrapping the accessory gland secretions and ejaculated spermatozoa., [UniProtKB]; Peptides released by physiological cleavage of Semg1 and Semg2 form amyloids that enhance HIV infection., [RefSeq, PubMed]; SEMG1/2 augment energy metabolism of tumor cells. Publication Status: Online-Only, [RefSeq, PubMed]; Semenogelins (Sgs) modifies the membrane structure, indirectly inhibiting motility, and provides suggestions for a therapy for male infertility through selection of a functional sperm population using Sgs., [RefSeq, PubMed]; The secreted protein encoded by this gene is involved in the formation of a gel matrix that encases ejaculated spermatozoa. Proteolysis by the prostate-specific antigen (PSA) breaks down the gel matrix and allows the spermatozoa to move more freely. The encoded protein is found in lesser abundance than a similar semenogelin protein. An antibacterial activity has been found for a antimicrobial peptide isolated from this protein. The genes encoding these two semenogelin proteins are found in a cluster on chromosome 20. [provided by RefSeq, Jan 2015]., [RefSeq]; These results suggest the involvement of semenogelins in prostate cancer and their prognostic values in predicting cancer progression after radical prostatectomy., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53ZU2;Q6X2M5;Q6X2M6", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0070062 extracellular exosome;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:1901318 negative regulation of flagellated sperm motility;GO:0019731 antibacterial humoral response;GO:0048240 sperm capacitation;GO:1900005 positive regulation of serine-type endopeptidase activity;GO:0050817 coagulation", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q02383-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12872-1", "uniprot_id": [ { "id": "SFSWA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12872", "type": "external" } ], "mass": 104822.0, "length": 951, "protein_name": "Splicing factor, suppressor of white-apricot homolog", "gene_name": "SFSWAP", "organism": "Human", "refseq_name": "splicing factor, suppressor of white-apricot homolog isoform 1", "refseq_ac": [ { "id": "NP_001248340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248340", "type": "external" } ], "gene_names_uniprotkb": "SFSWAP; SFRS8; SWAP", "gene_names_refseq": "SFRS8; SFSWAP; SWAP", "protein_names_uniprotkb": "Splicing factor, suppressor of white-apricot homolog; Splicing factor, arginine/serine-rich 8; Suppressor of white apricot protein homolog", "protein_names_refseq": "splicing factor SWAP homolog; splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila); splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog); splicing factor, suppressor of white-apricot family; splicing factor, suppressor of white-apricot homolog isoform 1; splicing factor, suppressor of white-apricot homolog; suppressor of white apricot protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:6433)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11237011;15302935;17081983;17287340;17525332;18077418;18452278;18669648;18767875;19413330;19415658;19608861;19651622;19690332;20068231;20230923;21406692;23186163;23301498;23481700;24275569;24715725;25502872;25576301;25892735;26154972;26992070;27846572;27920218;28514659;28649982;28832583;28904123;29242379;29493099;29508533;29557506;29632046;29769354;30379171;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33691108;33912179;33968037;33981976;34019948;34171305;34932366;35051231;35138101;35318648;35580925;35705054;36010968;37217939;38665916;39894887;40307207;8206918;8940107", "class_list": "", "function": "Plays a role as an alternative splicing regulator. Regulate its own expression at the level of RNA processing. Also regulates the splicing of fibronectin and CD45 genes. May act, at least in part, by interaction with other R/S-containing splicing factors. Represses the splicing of MAPT/Tau exon 10., [UniProtKB, PubMed]; This gene encodes a human homolog of Drosophila splicing regulatory protein. This gene autoregulates its expression by control of splicing of its first two introns. In addition, it also regulates the splicing of fibronectin and CD45 genes. Two transcript variants encoding different isoforms have been identified. [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": 22, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "B2RN45;B7ZM97;F5H6B8;Q6PJF7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0048025 negative regulation of mRNA splicing, via spliceosome;GO:0000395 mRNA 5'-splice site recognition;GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q12872-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0G5-1", "uniprot_id": [ { "id": "SC2B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0G5", "type": "external" } ], "mass": 10563.0, "length": 96, "protein_name": "Secretoglobin family 2B member 2", "gene_name": "SCGB2B2", "organism": "Human", "refseq_name": "secretoglobin family 2B member 2 precursor", "refseq_ac": [ { "id": "NP_001020762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020762", "type": "external" } ], "gene_names_uniprotkb": "SCGB2B2; SCGB4A2; SCGBL", "gene_names_refseq": "SCGB2B2; SCGB4A2; SCGBL", "protein_names_uniprotkb": "Secretoglobin family 2B member 2; Secretoglobin-like protein", "protein_names_refseq": "secretoglobin family 2B member 2 precursor; secretoglobin-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:284402)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "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": 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:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q4G0G5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T4F7-1", "uniprot_id": [ { "id": "SFRP5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T4F7", "type": "external" } ], "mass": 35563.0, "length": 317, "protein_name": "Secreted frizzled-related protein 5", "gene_name": "SFRP5", "organism": "Human", "refseq_name": "secreted frizzled-related protein 5 precursor", "refseq_ac": [ { "id": "NP_003006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003006", "type": "external" } ], "gene_names_uniprotkb": "SFRP5; FRP1B; SARP3", "gene_names_refseq": "SARP3; SFRP5", "protein_names_uniprotkb": "Secreted frizzled-related protein 5; FRP-1b; Frizzled-related protein 1b; SARP-3; Secreted apoptosis-related protein 3; sFRP-5", "protein_names_refseq": "FRP-1b; SARP-3; frizzled-related protein 1b; sFRP-5; secreted apoptosis related protein 3; secreted frizzled-related protein 5 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6425)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10072424;36631199;37191968;38409837;38714325;39339733;9391078;9642118", "class_list": "", "function": "Frizzled receptors and SFRP5 in lipid metabolism: Current findings and potential applications., [RefSeq, PubMed]; SFRP5 Partially Inhibits the Proliferation and Migration of Airway Smooth Muscle Cells in Children with Asthma by Regulating the Wnt/beta-Catenin Signaling Pathway., [RefSeq, PubMed]; Secreted frizzled-related protein 5 (SFRP5) is a member of the SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. SFRP5 and SFRP1 may be involved in determining the polarity of photoreceptor cells in the retina. SFRP5 is highly expressed in the retinal pigment epithelium, and moderately expressed in the pancreas. [provided by RefSeq, Jul 2008]., [RefSeq]; Secreted frizzled-related protein 5 overexpression reverses oxLDL-induced lipid accumulation in human vascular smooth muscle cells., [RefSeq, PubMed]; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP5 may be involved in determining the polarity of photoreceptor, and perhaps, other cells in the retina., [UniProtKB]; TFAP2C inhibits cell autophagy to alleviate myocardial ischemia/reperfusion injury by regulating miR-23a-5p/SFRP5/Wnt5a axis., [RefSeq, PubMed]; The Role of Secreted Frizzled-Related Protein 5 (Sfrp5) in Overweight and Obesity in Childhood and Adolescence. 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": "O14780;Q86TH7", "ec_number_list": [], "go_molecular_function": "GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0007165 signal transduction;GO:0008285 negative regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0090090 negative regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q5T4F7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55854-1", "uniprot_id": [ { "id": "SUMO3_HUMAN", "url": "https://www.uniprot.org/uniprot/P55854", "type": "external" } ], "mass": 11637.0, "length": 103, "protein_name": "Small ubiquitin-related modifier 3", "gene_name": "SUMO3", "organism": "Human", "refseq_name": "small ubiquitin-related modifier 3 isoform 2", "refseq_ac": [ { "id": "NP_001273345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273345", "type": "external" } ], "gene_names_uniprotkb": "SUMO3; SMT3A; SMT3H1", "gene_names_refseq": "SMT3A; SMT3H1; SUMO-3; SUMO3", "protein_names_uniprotkb": "Small ubiquitin-related modifier 3; SMT3 homolog 1; SUMO-2; SUMO-3; Smt3A; Ubiquitin-like protein SMT3A", "protein_names_refseq": "SMT3 suppressor of mif two 3 homolog 1; SMT3 suppressor of mif two 3 homolog 3; small ubiquitin-related modifier 3 isoform 2; small ubiquitin-related modifier 3; ubiquitin-like protein SMT3B", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:6612); (R-HSA-3065676); (R-HSA-3065678); (R-HSA-3065679); (R-HSA-3108214); (R-HSA-3232118); (R-HSA-3899300); (R-HSA-4090294); (R-HSA-4551638); (R-HSA-4615885); (R-HSA-4755510); (R-HSA-5696395)", "pathway_count": 12, "publication_count": 282, "publication_id_list": "10187858;10526214;10574707;10692421;10734143;10759568;10862613;11007478;11121022;11124955;11141066;11237011;11278856;11451954;11477070;11511374;11709553;11792325;11842083;11889051;11896061;11960997;12032081;12072434;12077349;12080057;12144530;12149243;12150977;12177000;12192048;12356736;12383504;12419227;12529333;12641448;12679040;12718889;12832072;12924945;14500761;14517266;14563852;14578449;14651848;14701874;15175327;15192080;15192092;15199155;15220921;15247228;15296745;15355988;15487983;15494207;15507434;15590680;15592428;15608651;15660128;15723523;15766567;15823533;15829507;15923626;15931174;15940266;15958389;15959518;15961505;15976810;15989970;16030353;16098147;16253240;16478998;16491090;16553580;16608850;16626738;16688858;16738315;16738331;16757475;16781829;16810316;16906147;16912044;17000769;17018294;17020914;17079232;17081986;17105732;17183683;17218271;17283066;17298944;17314004;17369852;17466625;17466626;17535915;17591783;17643372;17693435;17717077;17803295;17942393;17948053;18082607;18211901;18339323;18374648;18381449;18394993;18408014;18488044;18538659;18614043;18617891;18617892;18625722;18628979;18691969;18707152;18708356;18946085;19041634;19056823;19107418;19211567;19240082;19287951;19297320;19443651;19596686;19615980;19622798;19661379;19692572;19706679;19713942;19744555;19779455;19850744;19864602;19940136;19941824;19955185;19956565;19995069;20016594;20016603;20098713;20112406;20159957;20164921;20176810;20188669;20190268;20209145;20351170;20368362;20417598;20501649;20547755;20663916;20676127;20705237;20719936;20876134;21098080;21147198;21167178;21284855;21338522;21375726;21467194;21527249;21550342;21554500;21900752;21965678;22022399;22081108;22402492;22457066;22464730;22467880;22493095;22508508;22635276;22649547;22661230;22713328;22751501;22930759;23038248;23045548;23352696;23404503;23417673;23546875;23673342;23750026;23751493;23871147;24027577;24068740;24105744;24369422;24390485;24782567;24835590;25074923;25114211;25154395;25218447;25391492;25538220;25704882;25755297;25772364;25800734;26042670;26073453;26151477;26375851;26992070;27068747;27397612;27935866;28832583;29070839;29242379;29493099;29508533;29557506;29632711;30429286;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32502341;32938616;32983136;33141586;33392160;33592498;34019948;34232706;34504059;34932366;35318648;35561310;35580925;36010968;36241641;36284347;37338025;37703582;7559382;7700386;8692841;9119407;9130708;9412458;9452416;9699634;9716411;9734360;9756909;9771713;9885291;9920803", "class_list": "", "function": "NSUN2 modified by SUMO-2/3 promotes gastric cancer progression and regulates mRNA m5C methylation. Erratum:[Cell Death Dis. 2024 Jul 11;15(7):495. doi: 10.1038/s41419-024-06859-4. PMID: 38991998] Publication Status: Online-Only, [RefSeq, PubMed]; SUMO paralogue-specific functions revealed through systematic analysis of human knockout cell lines and gene expression data., [RefSeq, PubMed]; SUMO-3 promotes the ubiquitin-dependent turnover of TRIM55., [RefSeq, PubMed]; SUMO2/3 promotes the progression and oxaliplatin resistance of colorectal cancer through facilitating the SUMOylation at Ku80-K307., [RefSeq, PubMed]; This gene encodes a member of the small ubiquitin-related modifier (SUMO) family of eukaryotic proteins. The encoded protein is covalently conjugated to other proteins via a post-translation modification known as sumoylation. Sumoylation may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Alternatively spliced transcript variants encoding distinct proteins have been described. [provided by RefSeq, Feb 2014]., [RefSeq]; Ubiquitin-like protein which can be covalently attached to target lysines either as a monomer or as a lysine-linked polymer. Does not seem to be involved in protein degradation and may function as an antagonist of ubiquitin in the degradation process. Plays a role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2 or CBX4 (PubMed:11451954, PubMed:18538659, PubMed:21965678). Plays a role in the regulation of sumoylation status of SETX (PubMed:24105744)., [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": 1, "reported_mutagensis": 3, "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": "B2R5X4;B4DUW4;Q53HI9;Q6FGD4;Q9BWR4", "ec_number_list": [], "go_molecular_function": "GO:0044389 ubiquitin-like protein ligase binding;GO:0031386 protein tag activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0016605 PML body", "go_biological_process": "GO:0016925 protein sumoylation;GO:1900180 regulation of protein localization to nucleus", "synthesized_glycan_count": 0, "hit_score": 28.5, "record_id": "P55854-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51170-1", "uniprot_id": [ { "id": "SCNNG_HUMAN", "url": "https://www.uniprot.org/uniprot/P51170", "type": "external" } ], "mass": 74270.0, "length": 649, "protein_name": "Epithelial sodium channel subunit gamma", "gene_name": "SCNN1G", "organism": "Human", "refseq_name": "epithelial sodium channel subunit gamma", "refseq_ac": [ { "id": "NP_001030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030", "type": "external" } ], "gene_names_uniprotkb": "SCNN1G", "gene_names_refseq": "BESC3; ENaCgamma; ENaCg; LDLS2; PHA1B3; PHA1; SCNEG; SCNN1G", "protein_names_uniprotkb": "Epithelial sodium channel subunit gamma; Amiloride-sensitive sodium channel subunit gamma; ENaC subunit gamma; ENaCG; Epithelial Na(+) channel subunit gamma; Gamma-ENaC; Gamma-NaCH; Nonvoltage-gated sodium channel 1 subunit gamma; SCNEG; Sodium channel epithelial 1 subunit gamma", "protein_names_refseq": "ENaC gamma subunit; ENaC subunit gamma; amiloride-sensitive epithelial sodium channel gamma subunit; amiloride-sensitive sodium channel gamma-subunit; amiloride-sensitive sodium channel subunit gamma; epithelial Na(+) channel subunit gamma; epithelial sodium channel subunit gamma; gamma-ENaC; gamma-NaCH; nonvoltage-gated sodium channel 1 subunit gamma; sodium channe epithelial 1 gamma subunit; sodium channel epithelial 1 gamma subunit; sodium channel, non-voltage-gated 1, gamma subunit; sodium channel, nonvoltage-gated 1, gamma", "tax_id": 9606, "disease": "Liddle syndrome (Disease Ontology:DOID:0050477); autosomal recessive pseudohypoaldosteronism type 1 (Disease Ontology:DOID:0060854); bronchiectasis 3 (Disease Ontology:DOID:0080528); neurodegenerative disease (Disease Ontology:DOID:1289); ischemia (Disease Ontology:DOID:326); pseudohypoaldosteronism (Disease Ontology:DOID:4479); Liddle syndrome 2 (MONDO:MONDO:0020854); pseudohypoaldosteronism, type IB3, autosomal recessive (MONDO:MONDO:0859318)", "pathway": " (hsa:6340); (R-HSA-2672351); (R-HSA-9730628)", "pathway_count": 3, "publication_count": 123, "publication_id_list": "10391210;10404817;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11244092;11588175;11687798;11734858;11805112;11842292;11904445;11956057;12107247;12167593;12393854;12473862;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16423824;16813530;16849430;16850186;16959974;17381423;17448995;17502380;17634077;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18507830;18508966;18662336;18724360;19017867;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20525693;20538786;21040849;21527911;21984732;22002868;22207244;22493497;22773952;22946059;2298749;23112050;2321095;23616951;24124190;2536303;25576301;26359375;26562072;26772908;28071645;28154142;28790369;29331515;29557506;30251954;32157095;32729833;32983136;33916525;34755678;35494241;35580925;36327816;7490094;7499195;7550319;7588753;7665160;7762608;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8640238;8809036;8824247;9037075;9169421;9395096;9571199;9662395;9700209;9719863;9744806;9792722", "class_list": "", "function": "Aberrant inactivation of SCNN1G promotes the motility of head and neck squamous cell carcinoma., [RefSeq, PubMed]; DNA Methylation Patterns Correlate with the Expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial Sodium Channel, ENaC) Genes. Publication Status: Online-Only, [RefSeq, PubMed]; GammaENaC/CD9 in urinary extracellular vesicles as a potential biomarker of MR activity. Publication Status: Online-Only, [RefSeq, PubMed]; Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]., [RefSeq]; Novel mutations responsible for autosomal recessive multisystem pseudohypoaldosteronism and sequence variants in epithelial sodium channel gamma-subunit gene., [RefSeq, PubMed]; This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:7550319, PubMed:7762608, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190). It plays a key role in maintaining sodium homeostasis through electrogenic sodium reabsorption in the kidneys (PubMed:12107247, PubMed:7550319, PubMed:8640238). Additionally, ENaC is essential for airway surface liquid homeostasis, which is crucial for proper mucus clearance (PubMed:18507830, PubMed:19017867, PubMed:24124190)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, 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": 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "P78437;Q6PCC2;Q93023;Q93024;Q93025;Q93026;Q93027;Q96TD2", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005216 monoatomic ion channel activity;GO:0050699 WW domain binding;GO:0015280 ligand-gated sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0009897 external side of plasma membrane;GO:0016324 apical plasma membrane;GO:0034706 sodium channel complex", "go_biological_process": "GO:0008217 regulation of blood pressure;GO:1904117 cellular response to vasopressin;GO:0006883 intracellular sodium ion homeostasis;GO:0035725 sodium ion transmembrane transport;GO:1904045 cellular response to aldosterone", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "P51170-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3S2-1", "uniprot_id": [ { "id": "ZN330_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3S2", "type": "external" } ], "mass": 36201.0, "length": 320, "protein_name": "Zinc finger protein 330", "gene_name": "ZNF330", "organism": "Human", "refseq_name": "zinc finger protein 330 isoform 2", "refseq_ac": [ { "id": "NP_001278931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278931", "type": "external" } ], "gene_names_uniprotkb": "ZNF330; NOA36", "gene_names_refseq": "HSA6591; NOA36; NOAZFP; ZNF330", "protein_names_uniprotkb": "Zinc finger protein 330; Nucleolar autoantigen 36; Nucleolar cysteine-rich protein", "protein_names_refseq": "Nucleolar Autoantigen-36 kDa; nucleolar autoantigen 36; nucleolar cysteine-rich protein; zinc finger autoantigen 330; zinc finger protein 330 isoform 2; zinc finger protein 330", "tax_id": 9606, "disease": "", "pathway": " (hsa:27309)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "10593942;11237011;15592455;18452278;19895853;20068231;23186163;23301498;25576301;25645385;27600516;28228285;28832583;28904123;29242379;29493099;30429286;30779550;31217245;31530632;31844290;31848261;32157095;32357974;32983136;33691108;33981976;35580925;36241641;36580660;37217939;37254218;38665916", "class_list": "", "function": "NOA36/ZNF330 is translocated from the mitochondria to the cytoplasm when apoptosis is induced and that it contributes to cytochrome c release., [RefSeq, PubMed]; ZNF330/NOA36 interacts with HSPA1 and HSPA8 and modulates cell cycle and proliferation in response to heat shock in HEK293 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RDA3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0000775 chromosome, centromeric region;GO:0030496 midbody", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9Y3S2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXF1-1", "uniprot_id": [ { "id": "TEX10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXF1", "type": "external" } ], "mass": 105674.0, "length": 929, "protein_name": "Testis-expressed protein 10", "gene_name": "TEX10", "organism": "Human", "refseq_name": "testis-expressed protein 10 isoform 2", "refseq_ac": [ { "id": "NP_001155056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155056", "type": "external" } ], "gene_names_uniprotkb": "TEX10; L18; Nbla10363", "gene_names_refseq": "Ipi1; TEX10; bA208F1.2", "protein_names_uniprotkb": "Testis-expressed protein 10", "protein_names_refseq": "testis expressed gene 10; testis-expressed protein 10 isoform 2; testis-expressed protein 10; testis-expressed sequence 10 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54881); (R-HSA-6791226)", "pathway_count": 2, "publication_count": 135, "publication_id_list": "11237011;11922599;12068309;12150911;12429849;12880961;15334068;15960975;16037817;16043514;16738141;16964243;17189298;17353269;17412707;18065403;18438418;18669648;18691976;19007248;19106111;19332556;19413330;19564402;19664994;19664995;19801658;20038530;20056613;20068231;20531386;20798176;20805244;20819938;21036871;21063389;21097556;21326211;22072790;22190735;22195017;22424782;22544926;22645359;22872859;22898188;22916032;23186163;23439679;23481573;23481700;23482395;2388630;24366607;24424021;24550520;24714562;24715725;25367160;25418920;25525153;25576301;25645385;25880248;25936917;25969445;26154972;26237581;26811146;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;30315122;30379171;30429286;30524438;30779550;31154438;31222486;31530632;31844290;31848261;31937595;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34932366;34966825;35051231;35083852;35156514;35561310;35580925;36010968;36215666;36241641;36284347;40596516;9482744", "class_list": "", "function": "Data suggest that TEX101 is a cancer-related protein and may be useful as a marker for prognosis/diagnosis of and neck squamous cell carcinomas (HNSCC)., [RefSeq, PubMed]; Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit (PubMed:21326211)., [UniProtKB, PubMed, PubMed]; LncRNA RSU1P2-microRNA let-7a-Testis-Expressed Protein 10 axis modulates tumorigenesis and cancer stem cell-like properties in liver cancer., [RefSeq, PubMed]; Recruitment of the protein complex 5FMC to Zbp-89, a zinc-finger transcription factor, affects its sumoylation status and transactivation potential.[5FMC], [RefSeq, PubMed]; TEX10 Promotes the Tumorigenesis and Radiotherapy Resistance of Urinary Bladder Carcinoma by Stabilizing XRCC6. Publication Status: Online-Only, [RefSeq, PubMed]; Tex10 is a core component of the pluripotency network., [RefSeq, PubMed]; These data define the PELP1-TEX10-WDR18 complex as a regulator of ribosome biogenesis and suggests that its SUMO-controlled distribution coordinates the rate of ribosome formation., [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": 17, "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": "B4DYV2;Q5T722;Q5T723;Q8NCN8;Q8TDY0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0071339 MLL1 complex", "go_biological_process": "GO:0000448 cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)", "synthesized_glycan_count": 0, "hit_score": 13.8, "record_id": "Q9NXF1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EL2-1", "uniprot_id": [ { "id": "RT24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EL2", "type": "external" } ], "mass": 19015.0, "length": 167, "protein_name": "Small ribosomal subunit protein uS3m", "gene_name": "MRPS24", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS3m precursor", "refseq_ac": [ { "id": "NP_114403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114403", "type": "external" } ], "gene_names_uniprotkb": "MRPS24; HSPC335", "gene_names_refseq": "HSPC335; MRP-S24; MRPS24; S24mt; bMRP-47; bMRP47", "protein_names_uniprotkb": "Small ribosomal subunit protein uS3m; 28S ribosomal protein S24, mitochondrial; MRP-S24; S24mt; bMRP-47; bMRP47", "protein_names_refseq": "28S ribosomal protein S24, mitochondrial; mitochondrial 28S ribosomal protein S24; mitochondrial small ribosomal subunit protein uS3m; small ribosomal subunit protein uS3m precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:64951); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 50, "publication_id_list": "10938081;11237011;11402041;11543634;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;24714562;25233460;25576301;25838379;26375851;26992070;27029019;27600516;28218747;28228285;28510447;28834231;28892042;28904123;29242379;29393594;29437277;29769354;30315122;30410026;31217245;31844290;31848261;32157095;32357974;32488085;32983136;33243891;33592498;33878294;34357683;35051231;36302763;36596788;37141370;9653160", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene. [provided by RefSeq, Mar 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": "A4D1U9;P82668;Q96Q23;Q9P047", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q96EL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75845-1", "uniprot_id": [ { "id": "SC5D_HUMAN", "url": "https://www.uniprot.org/uniprot/O75845", "type": "external" } ], "mass": 35301.0, "length": 299, "protein_name": "Lathosterol oxidase", "gene_name": "SC5D", "organism": "Human", "refseq_name": "lathosterol oxidase", "refseq_ac": [ { "id": "NP_001020127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020127", "type": "external" } ], "gene_names_uniprotkb": "SC5D; SC5DL", "gene_names_refseq": "ERG3; S5DES; SC5DL; SC5D", "protein_names_uniprotkb": "Lathosterol oxidase; 1.14.19.20; C-5 sterol desaturase; Delta(7)-sterol 5-desaturase; Delta(7)-sterol C5(6)-desaturase; Lathosterol 5-desaturase; Sterol-C5-desaturase", "protein_names_refseq": "3beta-hydroxysteroid-delta5-desaturase; C-5 sterol desaturase; delta(7)-sterol 5(6)-desaturase; delta(7)-sterol 5-desaturase; delta(7)-sterol C5(6)-desaturase; fungal ERG3, delta-5-desaturase-like; lathosterol 5-desaturase; lathosterol dehydrogenase; lathosterol oxidase; sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like", "tax_id": 9606, "disease": "lathosterolosis (MONDO:MONDO:0011816)", "pathway": " (hsa:6309); (R-HSA-2426168); (R-HSA-6807047); (R-HSA-9969901)", "pathway_count": 4, "publication_count": 116, "publication_id_list": "10344195;10391218;10391219;10400691;10759542;10786622;11237011;11414710;11519011;12083769;12177166;12189593;12618959;12764144;12812989;12829805;1377680;14404284;14506130;16784888;17449569;17925399;18559965;18654640;18682402;18726356;1968462;20138239;20144677;20450493;20634891;20719759;20937905;21406692;22634312;24715725;25576301;25645385;25880248;25892735;26114596;26154972;26811146;26992070;27023786;27600516;27846572;27920218;28218747;28228285;28446606;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29557506;29632046;29769354;29786170;30315122;30410026;30429286;30779550;31092671;31154438;31217245;31530632;31844290;31848261;31937595;32157095;32161166;32350084;32357974;32502341;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34185709;34211107;35051231;35251023;35580925;36010968;36241641;36284347;38297129;38297130;7567999;7592729;7732023;7909540;8020941;8619637;8626466;8626488;8647822;8663358;8663599;8798690;8976377;9099716;9465114;9604010;9634533;9748295", "class_list": "", "function": "Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid hormone synthesis (PubMed:10786622, PubMed:38297129). In addition to its essential role in cholesterol biosynthesis, it also indirectly regulates ferroptosis through the production of 7-DHC. By diverting the spread of damage caused by peroxyl radicals from the phospholipid components to its sterol nucleus, 7-DHC prevents this form of cell death (PubMed:38297129, PubMed:38297130)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The EGR3 may not play a major role in schizophrenia susceptibility in the Chinese Han population., [RefSeq, PubMed]; The relationship between C-peptide concentrations and D5D enzyme activity estimates remained significant after adjusting for body mass index, waist circumference, and TNF-alpha. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme of cholesterol biosynthesis. The encoded protein catalyzes the conversion of lathosterol into 7-dehydrocholesterol. Mutations in this gene have been associated with lathosterolosis. Alternatively spliced transcript variants encoding the same 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": 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": "O00119;Q6GTM5;Q9UK15", "ec_number_list": [ { "id": "1.14.19.20", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.20", "type": "external" } ], "go_molecular_function": "GO:0000248 C-5 sterol desaturase activity;GO:0005506 iron ion binding;GO:0050046 delta7-sterol 5(6)-desaturase activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006695 cholesterol biosynthetic process;GO:0033489 cholesterol biosynthetic process via desmosterol;GO:0033490 cholesterol biosynthetic process via lathosterol;GO:0110076 negative regulation of ferroptosis;GO:0008610 lipid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "O75845-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWF7-1", "uniprot_id": [ { "id": "U2D2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWF7", "type": "external" } ], "mass": 8761.0, "length": 75, "protein_name": "Putative ubiquitin-conjugating enzyme E2 D2-like protein", "gene_name": "UBE2DNL", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "UBE2DNL; UBE2D2L", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ubiquitin-conjugating enzyme E2 D2-like protein; Ubiquitin carrier protein D2-like; Ubiquitin-conjugating enzyme E2D N-terminal-like; Ubiquitin-protein ligase D2-like", "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": "Q8IWF7-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94885-1", "uniprot_id": [ { "id": "SASH1_HUMAN", "url": "https://www.uniprot.org/uniprot/O94885", "type": "external" } ], "mass": 136653.0, "length": 1247, "protein_name": "SAM and SH3 domain-containing protein 1", "gene_name": "SASH1", "organism": "Human", "refseq_name": "SAM and SH3 domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_056093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056093", "type": "external" } ], "gene_names_uniprotkb": "SASH1; KIAA0790; PEPE1", "gene_names_refseq": "CAPOK; DUH1; DUH; SASH1; SH3D6A; dJ323M4.1", "protein_names_uniprotkb": "SAM and SH3 domain-containing protein 1; Proline-glutamate repeat-containing protein", "protein_names_refseq": "SAM and SH3 domain-containing protein 1 isoform 1; SAM and SH3 domain-containing protein 1; proline-glutamate repeat-containing protein", "tax_id": 9606, "disease": "dyschromatosis universalis hereditaria (Disease Ontology:DOID:0060304); pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome (MONDO:MONDO:0018657)", "pathway": " (hsa:23328)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;12771949;17081983;17088907;18077418;18212344;18452278;18669648;19531498;19648646;19651622;19664994;21152398;21406692;22869377;23186163;23333244;23776175;24275569;25315659;25576301;25645385;26203640;26768311;26992070;27600516;27659786;27840890;27846572;27862975;27885802;28832583;29557506;29956681;30379171;30429286;31844290;32157095;32387766;32488085;32938616;32983136;33123756;33392160;33537174;33592498;33968037;33981976;35051231;35580925;36010968;37510314;37619706;37741309;37794134;37938771;39300116", "class_list": "", "function": "Downregulated expression of the candidate tumour suppressor gene SASH1 is associated with colon cancer, [RefSeq, PubMed]; HMGB1/SET/HAT1 complex-mediated SASH1 repression drives glycolysis and metastasis in lung adenocarcinoma., [RefSeq, PubMed]; Human Endogenous Retrovirus-H-Derived miR-4454 Inhibits the Expression of DNAJB4 and SASH1 in Non-Muscle-Invasive Bladder Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Is a positive regulator of NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold molecule to assemble a molecular complex that includes TRAF6, MAP3K7, CHUK and IKBKB, thereby facilitating NF-kappa-B signaling activation (PubMed:23776175). Regulates TRAF6 and MAP3K7 ubiquitination (PubMed:23776175). Involved in the regulation of cell mobility (PubMed:23333244, PubMed:23776175, PubMed:25315659). Regulates lipolysaccharide (LPS)-induced endothelial cell migration (PubMed:23776175). Is involved in the regulation of skin pigmentation through the control of melanocyte migration in the epidermis (PubMed:23333244)., [UniProtKB, PubMed, PubMed, PubMed]; SASH1 contributes to glial cell migration in the early development of the central nervous system., [RefSeq, PubMed]; SASH1: A Novel Eph Receptor Partner and Insights into SAM-SAM Interactions., [RefSeq, PubMed]; The downregulation of SASH1 expression promotes breast cancer occurrence and invasion accompanied by the activation of PI3K-Akt-mTOR signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]., [RefSeq]; Tumor suppressor gene possibly involved in tumorigenesis of breast and other solid 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "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": "Q5TGN5;Q8TAI0;Q9H7R7", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019901 protein kinase binding;GO:0001965 G-protein alpha-subunit binding;GO:0031435 mitogen-activated protein kinase kinase kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction;GO:0010595 positive regulation of endothelial cell migration;GO:0045766 positive regulation of angiogenesis;GO:1900745 positive regulation of p38MAPK cascade;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "O94885-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUB0-1", "uniprot_id": [ { "id": "S31D4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUB0", "type": "external" } ], "mass": 102306.0, "length": 917, "protein_name": "Spermatogenesis-associated protein 31D4", "gene_name": "SPATA31D4", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31D4", "refseq_ac": [ { "id": "NP_001138669", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138669", "type": "external" } ], "gene_names_uniprotkb": "SPATA31D4; FAM75D4", "gene_names_refseq": "FAM75D4; SPATA31D4", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31D4; Protein FAM75D4", "protein_names_refseq": "FAM75-like protein FLJ43859; family with sequence similarity 75, member D4; putative protein FAM75D4; putative spermatogenesis-associated protein 31D4; spermatogenesis-associated protein 31D4", "tax_id": 9606, "disease": "", "pathway": " (hsa:389761)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "29557506;29769354;31844290;33968037;34171305;35051231", "class_list": "", "function": "May play a role in spermatogenesis., [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": 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": "A0A0J9YX51", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6ZUB0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14563-1", "uniprot_id": [ { "id": "SEM3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14563", "type": "external" } ], "mass": 88889.0, "length": 771, "protein_name": "Semaphorin-3A", "gene_name": "SEMA3A", "organism": "Human", "refseq_name": "semaphorin-3A precursor", "refseq_ac": [ { "id": "NP_006071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006071", "type": "external" } ], "gene_names_uniprotkb": "SEMA3A; SEMAD", "gene_names_refseq": "COLL1; HH16; Hsema-III; Hsema-I; SEMA1; SEMA3A; SEMAD; SEMAIII; SEMAL; SemD; coll-1", "protein_names_uniprotkb": "Semaphorin-3A; Sema III; Semaphorin III", "protein_names_refseq": "collapsin 1; sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A; semaphorin D; semaphorin III; semaphorin L; semaphorin-3A precursor", "tax_id": 9606, "disease": "hypogonadotropic hypogonadism 16 with or without anosmia (Disease Ontology:DOID:0090080)", "pathway": " (hsa:10371); (R-HSA-399954); (R-HSA-399955); (R-HSA-399956)", "pathway_count": 4, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;10075701;10559936;10679438;10934324;11237011;11276226;11278486;11604131;12093729;12372285;12422220;14685275;15652488;15676027;16286926;16930978;16959974;17607942;17607944;21248752;22416012;22927827;25077900;25418920;25645385;25892735;28270793;29351928;29557506;29769354;31154438;32157095;32350084;32983136;33592498;33968037;35051231;35154160;35251023;35494241;35580925;38665916;38670629;38857830;38910430;38955028;8269517", "class_list": "", "function": "Axon guidance cue SEMA3A promotes the aggressive phenotype of basal-like PDAC. Publication Status: Online-Only, [RefSeq, PubMed]; Hypoxia-induced Semaphorin 3A promotes the development of endometriosis through regulating macrophage polarization., [RefSeq, PubMed]; Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1., [UniProtKB, PubMed]; PIEZO1 Promotes Odontoblast-Mediated Reactionary Dentinogenesis via SEMA3A., [RefSeq, PubMed]; Role of Semaphorin 3A in common psychiatric illnesses such as schizophrenia, depression, and anxiety. Review article, [RefSeq, PubMed]; This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of 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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 41, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0030424 axon", "go_biological_process": "GO:0097490 sympathetic neuron projection extension;GO:0097491 sympathetic neuron projection guidance;GO:0048880 sensory system development;GO:0030335 positive regulation of cell migration;GO:0046330 positive regulation of JNK cascade", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q14563-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60783-1", "uniprot_id": [ { "id": "RT14_HUMAN", "url": "https://www.uniprot.org/uniprot/O60783", "type": "external" } ], "mass": 15139.0, "length": 128, "protein_name": "Small ribosomal subunit protein uS14m", "gene_name": "MRPS14", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS14m", "refseq_ac": [ { "id": "NP_071383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071383", "type": "external" } ], "gene_names_uniprotkb": "MRPS14", "gene_names_refseq": "COXPD38; DJ262D12.2; HSMRPS14; MRP-S14; MRPS14; S14mt; uS14m", "protein_names_uniprotkb": "Small ribosomal subunit protein uS14m; 28S ribosomal protein S14, mitochondrial; MRP-S14; S14mt", "protein_names_refseq": "28S ribosomal protein S14, mitochondrial; mitochondrial 28S ribosomal protein S14; mitochondrial small ribosomal subunit protein uS14m; small ribosomal subunit protein uS14m", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 38 (Disease Ontology:DOID:0111466)", "pathway": " (hsa:63931); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 59, "publication_id_list": "10938081;11237011;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;24715725;25233460;25838379;26992070;27029019;27600516;27846572;27920218;28218747;28228285;28510447;28832583;28834231;28892042;28904123;29242379;29393594;29437277;29493099;29786170;30358850;30379171;30429286;31092671;31844290;32157095;32161166;32357974;32488085;32983136;33243891;33298915;33592498;33691108;33717175;33878294;34561969;34932366;35580925;36010968;36284347;36302763;36596788;37141370;37217939;38665916", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Our data demonstrate pathogenic mutations in MRPS14 can manifest as a perinatal-onset mitochondrial hypertrophic cardiomyopathy with a novel molecular pathogenic mechanism that impairs the function of mitochondrial ribosomes during translation elongation or mitochondrial mRNA recruitment rather than assembly., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5R358", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O60783-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43819-1", "uniprot_id": [ { "id": "SCO2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43819", "type": "external" } ], "mass": 29810.0, "length": 266, "protein_name": "Cytochrome c oxidase assembly factor SCO2", "gene_name": "SCO2", "organism": "Human", "refseq_name": "cytochrome c oxidase assembly factor SCO2 precursor", "refseq_ac": [ { "id": "NP_001162580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162580", "type": "external" } ], "gene_names_uniprotkb": "SCO2", "gene_names_refseq": "CEMCOX1; ECGF1; Gliostatin; MC4DN2; MYP6; PD-ECGF; SCO1L; SCO2; TP; TdRPase", "protein_names_uniprotkb": "Cytochrome c oxidase assembly factor SCO2", "protein_names_refseq": "Platelet-derived endothelial cell growth factor; SCO cytochrome c oxidase assembly protein 2; SCO cytochrome oxidase deficient homolog 2; SCO2, cytochrome c oxidase assembly protein; cytochrome c oxidase assembly factor SCO2 precursor; cytochrome c oxidase assembly factor SCO2; protein SCO2 homolog, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 4 (Disease Ontology:DOID:0070493); mitochondrial complex IV deficiency nuclear type 2 (Disease Ontology:DOID:0080357); myopia (Disease Ontology:DOID:11830); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); neurodegenerative disease (Disease Ontology:DOID:1289); cytochrome-c oxidase deficiency disease (Disease Ontology:DOID:3762); liver disease (Disease Ontology:DOID:409); mitochondrial metabolism disease (Disease Ontology:DOID:700); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:9997); (R-HSA-5628897); (R-HSA-9864848)", "pathway_count": 3, "publication_count": 120, "publication_id_list": "10329961;10545952;10716435;10745013;10749987;10980602;11029283;11034341;11237011;11340051;11486029;11545734;11673586;11959846;12161445;12203114;12438239;12453409;12714747;12869586;12906785;13298683;13538944;14651849;14994243;15105503;15223;15229189;15589136;16140933;16413492;16636147;16728594;16760263;16839880;17189203;17298220;17486094;17540029;17850752;18198340;18344994;18477386;18692468;19113821;19336478;19353847;19439913;19487573;19503089;19822145;20080666;20182617;20351271;20378837;21750704;21958598;22342701;22363791;23125284;23260140;23345593;23481700;23643385;23746447;23775793;24066844;24366874;24383451;24403053;24718924;25525168;25576301;25579166;25926683;25959673;26321642;26652033;26741492;26992070;27693358;28082314;28199844;28330871;28510447;28832583;28904123;29154948;29242379;29634976;30192525;30833945;31217245;31536960;31617381;31844290;32157095;32317297;32375044;32897882;32938616;32983136;33141586;33717175;33912179;33968037;34171305;34357683;34369624;34969438;35051231;35750769;36010968;37217939;5666113;7979252;7989588;8119488;9843204;9926927", "class_list": "", "function": "Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2); together with SCO1, facilitates the incorporation of copper into the Cu(A) site of MT-CO2/COX2 (PubMed:15229189, PubMed:17189203, PubMed:19336478, PubMed:35750769). Could also act as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]., [RefSeq]; High expression of synthesis of cytochrome c oxidase 2 and TP53-induced glycolysis and apoptosis regulator can predict poor prognosis in human lung adenocarcinoma, [RefSeq, PubMed]; Systemic Mitochondrial Oxidative Phosphorylation Protein Levels Correlate with Neuroimaging Measures in Chronically HIV-Infected Individuals. Erratum:[AIDS Res Hum Retroviruses. 2020 Dec;36(12):1083. doi: 10.1089/aid.2019.0240.correx. PMID: 33264061], [RefSeq, PubMed]; TCF19 and p53 regulate transcription of TIGAR and SCO2 in HCC for mitochondrial energy metabolism and stress adaptation., [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": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3T1B5;Q9UK87", "ec_number_list": [], "go_molecular_function": "GO:0005507 copper ion binding;GO:0015035 protein-disulfide reductase activity;GO:0016531 copper chaperone activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0030016 myofibril", "go_biological_process": "GO:0006878 intracellular copper ion homeostasis;GO:0001654 eye development;GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "O43819-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P82930-1", "uniprot_id": [ { "id": "RT34_HUMAN", "url": "https://www.uniprot.org/uniprot/P82930", "type": "external" } ], "mass": 25650.0, "length": 218, "protein_name": "Small ribosomal subunit protein mS34", "gene_name": "MRPS34", "organism": "Human", "refseq_name": "small ribosomal subunit protein mS34 isoform 2", "refseq_ac": [ { "id": "NP_076425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076425", "type": "external" } ], "gene_names_uniprotkb": "MRPS34", "gene_names_refseq": "COXPD32; MRP-S12; MRP-S34; MRPS34; mS34", "protein_names_uniprotkb": "Small ribosomal subunit protein mS34; 28S ribosomal protein S34, mitochondrial; MRP-S34; S34mt", "protein_names_refseq": "28S ribosomal protein S34, mitochondrial; S34mt; mitochondrial 28S ribosomal protein S34; mitochondrial small ribosomal subunit protein mS34; small ribosomal subunit protein mS34 isoform 2", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 32 (Disease Ontology:DOID:0111492)", "pathway": " (hsa:65993); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 58, "publication_id_list": "11237011;11279123;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;22645359;23481700;24715725;25233460;25418920;25505266;25838379;25880248;26024233;26154972;26811146;26992070;27029019;27846572;28228285;28777931;28892042;29242379;29437277;29493099;29557506;30410026;30484775;30620550;30962385;31844290;32265295;32387766;33141586;33243891;33298915;33392160;33878294;33936100;34211107;34561969;34932366;35051231;36215666;36241641;36302763;36596788;37141370;40596516;40914422", "class_list": "", "function": "MRPS34 is required for normal function of the mitoribosome and energy-generating mitochondrial OXPHOS system in humans. Erratum:[Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015. PMID: 29625026], [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation., [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": 8, "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": "Q9BVI7", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "P82930-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXN7-1", "uniprot_id": [ { "id": "RIMKA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXN7", "type": "external" } ], "mass": 42864.0, "length": 391, "protein_name": "N-acetylaspartylglutamate synthase A", "gene_name": "RIMKLA", "organism": "Human", "refseq_name": "N-acetylaspartylglutamate synthase A", "refseq_ac": [ { "id": "NP_775913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775913", "type": "external" } ], "gene_names_uniprotkb": "RIMKLA; FAM80A", "gene_names_refseq": "FAM80A; NAAGS-II; NAAGS2; NAAGS; RIMKLA", "protein_names_uniprotkb": "N-acetylaspartylglutamate synthase A; 6.3.2.41; 6.3.2.42; N-acetylaspartylglutamylglutamate synthase A; NAAG synthetase A; NAAGS; Ribosomal protein S6 modification-like protein A", "protein_names_refseq": "N-acetylaspartyl-glutamate synthetase A; N-acetylaspartylglutamate synthase A; N-acetylaspartylglutamate synthetase II; N-acetylaspartylglutamylglutamate synthase A; NAAG synthetase A; RP11-157D18.1; family with sequence similarity 80, member A; ribosomal protein S6 modification-like protein A", "tax_id": 9606, "disease": "", "pathway": " (hsa:284716); (R-HSA-8964539)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "11237011;11903050;12054821;15364907;16267323;16730026;1737786;18005987;19338303;19648921;20657015;23024808;25865492;26902786;26992070;2722838;28832583;28904123;29242379;29557506;30315122;31422819;32157095;33298915;35051231;35580925;36241641;39117631;4052435;429360;6819292;7883047;8294935;9514741", "class_list": "", "function": "Catalyzes the synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate., [UniProtKB, UniProtKB]; Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis. Erratum:[Signal Transduct Target Ther. 2024 Dec 11;9(1):360. doi: 10.1038/s41392-024-02054-1. PMID: 39663370] 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": 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": "Q5VUS5", "ec_number_list": [ { "id": "6.3.2.41", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.41", "type": "external" }, { "id": "6.3.2.42", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.42", "type": "external" }, { "id": "6.3.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.1.17", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0072590 N-acetyl-L-aspartate-L-glutamate ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0170033 L-amino acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8IXN7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2H4-1", "uniprot_id": [ { "id": "SYS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2H4", "type": "external" } ], "mass": 17615.0, "length": 156, "protein_name": "Protein SYS1 homolog", "gene_name": "SYS1", "organism": "Human", "refseq_name": "protein SYS1 homolog isoform b", "refseq_ac": [ { "id": "NP_001093261", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093261", "type": "external" } ], "gene_names_uniprotkb": "SYS1; C20orf169", "gene_names_refseq": "C20orf169; SYS1; dJ453C12.4.1; dJ453C12.4", "protein_names_uniprotkb": "Protein SYS1 homolog", "protein_names_refseq": "SYS1 Golgi-localized integral membrane protein homolog; protein SYS1 homolog isoform b; protein SYS1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:90196); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16571679;16885419;16912714;16936697;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18664496;18946081;19164740;19490898;19620288;20685960;21183348;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22717455;23091056;23437303;24794632;25343031;25418920;26992070;28218747;28228285;29242379;30429286;33936100;34357683;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9590177", "class_list": "", "function": "Involved in protein trafficking. May serve as a receptor for ARFRP1., [UniProtKB, UniProtKB, UniProtKB]; SYS1 forms a complex with ADP-ribosylation factor-related protein ARFRP1 (MIM 604699) and targets ARFRP1 to the Golgi apparatus (Behnia et al., 2004 [PubMed 15077113]).[supplied by OMIM, Aug 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": 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": "C9JFB3;E1P620;Q5QPU7;Q96SD8;Q9BQZ2;Q9BQZ4;Q9H1F7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0043001 Golgi to plasma membrane protein transport;GO:0006895 Golgi to endosome transport;GO:0034067 protein localization to Golgi apparatus;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8N2H4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JPH6-1", "uniprot_id": [ { "id": "SYEM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JPH6", "type": "external" } ], "mass": 58689.0, "length": 523, "protein_name": "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial", "gene_name": "EARS2", "organism": "Human", "refseq_name": "nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001077083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077083", "type": "external" } ], "gene_names_uniprotkb": "EARS2; KIAA1970", "gene_names_refseq": "COXPD12; EARS2; MSE1; gluRS; mtGlnRS; mtGluRS", "protein_names_uniprotkb": "Nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial; 6.1.1.17; 6.1.1.24; GluRS; Glutamate--tRNA(Gln) ligase EARS2, mitochondrial; Glutamyl-tRNA synthetase; Mitochondrial glutamyl-tRNA synthetase; mtGluRS", "protein_names_refseq": "glutamate tRNA ligase 2, mitochondrial; glutamate--tRNA ligase; glutamate--tRNA(Gln) ligase EARS2, mitochondrial; mitochondrial glutamyl-tRNA synthetase; nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial isoform 1; nondiscriminating glutamyl-tRNA synthetase EARS2, mitochondrial; probable glutamate--tRNA ligase, mitochondrial; probable glutamyl-tRNA synthetase, mitochondrial", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 12 (Disease Ontology:DOID:0111493)", "pathway": " (hsa:124454); (R-HSA-379726)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;18452278;19608861;19805282;20068231;22277967;22492562;23008233;25418920;25645385;25880248;25892735;26154972;26741492;26992070;27846572;27920218;28218747;28514659;28832583;28904123;29242379;29393594;29437277;29632046;29769354;30315122;30410026;30429286;30524438;30779550;31844290;31848261;32157095;32265295;32350084;32357974;32502341;32897882;32983136;33141586;33912179;33936100;34185709;34357683;34561969;35051231;35580925;35779338;36010968;37938771;39173847;7755634;8078941;9278442;9466989", "class_list": "", "function": "EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer., [RefSeq, PubMed]; Non-discriminating glutamyl-tRNA synthetase that catalyzes aminoacylation of both mitochondrial tRNA(Glu) and tRNA(Gln) and participates in RNA aminoacylation for mitochondrial protein translation (PubMed:19805282). Attachs glutamate to tRNA(Glu) or tRNA(Gln) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu) or tRNA(Gln) (PubMed:19805282). In vitro, cytoplasmic tRNA(Gln) is slightly glutamylated, but with low activity (PubMed:19805282)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2): A case series and systematic literature review., [RefSeq, PubMed]; Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients, [RefSeq, PubMed]; Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB., [RefSeq, PubMed]; This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [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": 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": 0, "reported_glycation": 0, "reported_snv": 7, "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": "B3KTT2;D3DWF1;Q86YH3;Q8TF31", "ec_number_list": [ { "id": "6.1.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.15", "type": "external" }, { "id": "6.1.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.17", "type": "external" }, { "id": "6.1.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.24", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0000049 tRNA binding;GO:0004818 glutamate-tRNA ligase activity;GO:0050561 glutamate-tRNA(Gln) ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006424 glutamyl-tRNA aminoacylation;GO:0070127 tRNA aminoacylation for mitochondrial protein translation", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q5JPH6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14771-1", "uniprot_id": [ { "id": "ZN213_HUMAN", "url": "https://www.uniprot.org/uniprot/O14771", "type": "external" } ], "mass": 51263.0, "length": 459, "protein_name": "Zinc finger protein 213", "gene_name": "ZNF213", "organism": "Human", "refseq_name": "zinc finger protein 213", "refseq_ac": [ { "id": "NP_001128127", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128127", "type": "external" } ], "gene_names_uniprotkb": "ZNF213; ZKSCAN21", "gene_names_refseq": "CR53; ZKSCAN21; ZNF213; ZSCAN53", "protein_names_uniprotkb": "Zinc finger protein 213; Putative transcription factor CR53; Zinc finger protein with KRAB and SCAN domains 21", "protein_names_refseq": "putative transcription factor CR53; zinc finger protein 213; zinc finger protein with KRAB and SCAN domains 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:7760); (R-HSA-212436)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10023065;10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24366607;24714562;24715725;25576301;26992070;28218747;29557506;30315122;30410026;30833945;31530632;31844290;31848261;32157095;32357974;32897882;32938616;32983136;33912179;33939216;33968037;34171305;35051231;35318648;8183939;8769649;9637681;9653119", "class_list": "", "function": "C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM, Apr 2004]., [RefSeq]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; ZNF213 negatively controls triple negative breast cancer progression via Hippo/YAP signaling., [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": 17, "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": "A8K1B9;B4DMG6;Q96IS1", "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_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": 4.0, "record_id": "O14771-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWD8-1", "uniprot_id": [ { "id": "TM248_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWD8", "type": "external" } ], "mass": 35052.0, "length": 314, "protein_name": "Transmembrane protein 248", "gene_name": "TMEM248", "organism": "Human", "refseq_name": "transmembrane protein 248", "refseq_ac": [ { "id": "NP_060464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060464", "type": "external" } ], "gene_names_uniprotkb": "TMEM248; C7orf42", "gene_names_refseq": "C7orf42; TMEM248", "protein_names_uniprotkb": "Transmembrane protein 248", "protein_names_refseq": "UPF0458 protein C7orf42; transmembrane protein 248", "tax_id": 9606, "disease": "", "pathway": " (hsa:55069)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;24190977;25576301;26154972;26992070;27600516;27846572;27920218;28218747;28228285;28467828;28832583;28834231;28871256;28904123;29242379;29317506;29437277;29493099;29557506;29632711;29786170;30315122;30429286;30484775;30524438;30833945;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34171305;34357683;34509645;35051231;35154160;35251023;35580925;36241641;36581221", "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": 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": 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": 12, "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": "Q53H07;Q96FR2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9NWD8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY46-1", "uniprot_id": [ { "id": "SCN3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY46", "type": "external" } ], "mass": 226294.0, "length": 2000, "protein_name": "Sodium channel protein type 3 subunit alpha", "gene_name": "SCN3A", "organism": "Human", "refseq_name": "sodium channel protein type 3 subunit alpha isoform 2", "refseq_ac": [ { "id": "NP_001075145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075145", "type": "external" } ], "gene_names_uniprotkb": "SCN3A; KIAA1356; NAC3", "gene_names_refseq": "DEE62; EIEE62; FFEVF4; NAC3; Nav1.3; SCN3A", "protein_names_uniprotkb": "Sodium channel protein type 3 subunit alpha; Sodium channel protein brain III subunit alpha; Sodium channel protein type III subunit alpha; Voltage-gated sodium channel subtype III; Voltage-gated sodium channel subunit alpha Nav1.3", "protein_names_refseq": "brain III voltage-gated sodium channel; sodium channel protein brain III subunit alpha; sodium channel protein type 3 subunit alpha isoform 2; sodium channel protein type 3 subunit alpha; sodium channel protein type III subunit alpha; sodium channel, voltage gated, type III alpha subunit; sodium channel, voltage-gated, type III, alpha polypeptide; voltage-gated sodium channel subtype III; voltage-gated sodium channel subunit alpha Nav1.3", "tax_id": 9606, "disease": "generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); developmental and epileptic encephalopathy 62 (Disease Ontology:DOID:0080420); Dravet syndrome (Disease Ontology:DOID:0080422); familial focal epilepsy with variable foci 4 (Disease Ontology:DOID:0081424); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030)", "pathway": " (hsa:6328); (R-HSA-445095); (R-HSA-5576892); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 75, "publication_id_list": "10761935;11222639;11237011;11245985;11290418;11917125;12015988;12610651;1309946;1325650;14500339;14634208;15000524;15353592;15385606;15548568;15738140;16597699;16904324;17167479;17223356;17506496;18184654;19104071;19406745;19696921;20022913;20033988;21127204;21422378;21566136;21795555;21817159;22054663;22514276;23632330;23804213;24157691;24214976;24360415;24497506;24633359;25853419;26377607;26566883;26992070;28235671;28256214;28834231;29142310;29466837;29557506;29659026;29744740;30013099;30418433;30563861;31844290;31848261;32502341;33392160;33895391;34561969;35051231;35277491;35801810;37217939;37935051;38568055;7720699;8107964;8159690;8288584;9065781;9589372", "class_list": "", "function": "Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population., [RefSeq, PubMed]; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient., [UniProtKB, UniProtKB, UniProtKB]; Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+)., [RefSeq, PubMed]; Neurodevelopmental disorder in a patient with HMBS and SCN3A variants-A possibly blended phenotype further delineating autosomal recessive HMBS related disease., [RefSeq, PubMed]; Pore-forming subunit of Nav1.3, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:24157691, PubMed:28235671, PubMed:29466837, PubMed:35277491). In some secretory cell types, it also participates in cell excitability through membrane depolarization and regulates cells responsiveness to stimuli triggering secretion. For instance, it controls the release of serotonin/5-hydroxytryptamine by enterochromaffin cells and is required for both glucagon- and glucose-induced insulin secretion in pancreatic endocrine cells (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Targeted blockade of aberrant sodium current in a stem cell-derived neuron model of SCN3A encephalopathy., [RefSeq, PubMed]; Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [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": 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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q16142;Q53SX0;Q9BZB3;Q9C006;Q9NYK2;Q9P2J1;Q9UPD1;Q9Y6P4", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005248 voltage-gated sodium channel activity;GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009925 basal plasma membrane;GO:0001518 voltage-gated sodium channel complex", "go_biological_process": "GO:0086010 membrane depolarization during action potential;GO:0035725 sodium ion transmembrane transport;GO:0006814 sodium ion transport;GO:0048266 behavioral response to pain;GO:0086002 cardiac muscle cell action potential involved in contraction", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9NY46-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX61-1", "uniprot_id": [ { "id": "T161A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX61", "type": "external" } ], "mass": 53602.0, "length": 479, "protein_name": "Transmembrane protein 161A", "gene_name": "TMEM161A", "organism": "Human", "refseq_name": "transmembrane protein 161A isoform 2 precursor", "refseq_ac": [ { "id": "NP_001243695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243695", "type": "external" } ], "gene_names_uniprotkb": "TMEM161A; PRO1152", "gene_names_refseq": "AROS-29; AROS29; TMEM161A", "protein_names_uniprotkb": "Transmembrane protein 161A; AROS-29; Adaptive response to oxidative stress protein 29", "protein_names_refseq": "adaptive response to oxidative stress protein 29; transmembrane protein 161A isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:54929)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;12975309;16551573;16959974;23186163;23481700;25502872;25576301;25892735;26154972;26992070;28218747;28228285;28514659;28904123;29314611;29393594;29437277;29493099;29557506;29632046;29769354;30315122;30410026;30429286;30459171;30484775;30524438;30626607;30779550;31154438;31217245;31530632;31844290;31937595;31998317;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34171305;34185709;34357683;35051231;35251023;35561310;35580925;36010968;36284347", "class_list": "", "function": "Adaptive response to oxidative stress (AROS)-29 gene has a functional role in the protection against oxidative stress., [RefSeq, PubMed]; May play a role in protection against oxidative stress. Overexpression leads to reduced levels of oxidant-induced DNA damage and apoptosis., [UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B3KUE0;G5E9M6;Q7L2Y1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:1902230 negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;GO:0032526 response to retinoic acid;GO:0034599 cellular response to oxidative stress;GO:0045739 positive regulation of DNA repair;GO:0034644 cellular response to UV", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9NX61-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q05-1", "uniprot_id": [ { "id": "TPPC9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q05", "type": "external" } ], "mass": 128530.0, "length": 1148, "protein_name": "Trafficking protein particle complex subunit 9", "gene_name": "TRAPPC9", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 9 isoform b", "refseq_ac": [ { "id": "NP_001153844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153844", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC9; KIAA1882; NIBP; T1", "gene_names_refseq": "IBP; IKBKBBP; MRT13; NIBP; T1; TRAPPC9; TRS120", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 9; NIK- and IKBKB-binding protein; Tularik gene 1 protein", "protein_names_refseq": "IKK2 binding protein; NIK and IKK-beta binding protein; NIK- and IKBKB-binding protein; TRAPP 120 kDa subunit; trafficking protein particle complex 9; trafficking protein particle complex subunit 9 isoform b; tularik gene 1 protein", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 13 (Disease Ontology:DOID:0081098); intellectual disability (Disease Ontology:DOID:1059); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094)", "pathway": " (hsa:83696); (R-HSA-204005); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 311, "publication_id_list": "10.1101/2023.09.13.557529;10445031;10559959;10679020;10747087;10788476;10818110;10825291;10903204;10982397;10990452;11035026;11038176;11179213;11237011;11285137;11306556;11516400;11689439;11703925;11746448;11784320;11917121;11927603;12058051;12070132;12221131;12235121;12244319;12364329;12427552;12475894;12676587;12684051;12944476;12972505;15037235;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15951441;15958533;16207721;16303754;16373702;16410077;16495487;16525024;16525121;16571673;16624868;16641372;16754960;16880209;16912714;16950109;17005010;17038314;17043139;17132146;17189207;17192411;17208202;17239822;17287728;17316621;17488286;17562788;17574030;17646400;17671165;17678623;17684057;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;18843296;1900457;19109890;19164740;19345684;19403694;19413330;19490898;19620288;19638414;19656848;19664994;19725050;19729655;19745841;20004763;20004765;20008558;20112406;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20545907;20592283;20679433;20797862;20851765;20937701;20966969;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21478858;21525244;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22157747;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22675024;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23479643;23481700;23645161;23678941;23684622;23698585;23713133;23839779;23864707;24119662;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25202031;25341920;25343031;25406594;25418920;25472813;25492864;25505266;25576301;25586378;25619252;25645385;25648148;25713415;25925668;26055712;26154972;26177209;26245486;26375851;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27397612;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29632711;29786170;29789417;30429286;30524438;31217245;31844290;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33537174;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34405274;34509645;34737153;34932366;35051231;35318648;35561310;35580925;35760056;36241641;36284347;37938771;38467738;7688123;7911226;8144603;8221884;8408203;8522602;8620540;8663406;8863739;9020086;9020161;9030515;9094723;9136770;9150144;9177194;9307973;9323142;9590177;9647643;9733780", "class_list": "", "function": "Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies., [RefSeq, PubMed]; Functions as an activator of NF-kappa-B through increased phosphorylation of the IKK complex. May function in neuronal cells differentiation. May play a role in vesicular transport from endoplasmic reticulum to Golgi., [UniProtKB, PubMed]; Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly., [RefSeq, PubMed]; NIBP is a NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation, [RefSeq, PubMed]; Neurodevelopmental Outcome and Epigenetic Changes at 2 Years Associated with the Oxygen Load Received upon Postnatal Stabilization: A Pilot Study., [RefSeq, PubMed]; TRAPPC9 has a role in brain development, possibly through its effect on NF-kappaB activation and protein trafficking in the postmitotic neurons of the cerebral cortex, [RefSeq, PubMed]; TRAPPC9, encodes the NIK- and IKK-beta-binding protein, has a role in nonsyndromic autosomal-recessive mental retardation, [RefSeq, PubMed]; This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[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": 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": 20, "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": "Q4VTT3;Q658K7;Q6P149;Q6ZQT3;Q7L5C4;Q86Y21;Q96SL2;Q9BQA2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005802 trans-Golgi network;GO:0030008 TRAPP complex", "go_biological_process": "GO:0030154 cell differentiation;GO:0021987 cerebral cortex development;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006901 vesicle coating;GO:0099022 vesicle tethering", "synthesized_glycan_count": 0, "hit_score": 31.4, "record_id": "Q96Q05-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NB2-1", "uniprot_id": [ { "id": "SFXN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NB2", "type": "external" } ], "mass": 36232.0, "length": 322, "protein_name": "Sideroflexin-2", "gene_name": "SFXN2", "organism": "Human", "refseq_name": "sideroflexin-2", "refseq_ac": [ { "id": "NP_849189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849189", "type": "external" } ], "gene_names_uniprotkb": "SFXN2", "gene_names_refseq": "SFXN2; SLC56A2", "protein_names_uniprotkb": "Sideroflexin-2", "protein_names_refseq": "sideroflexin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:118980)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12670026;16385451;20877624;21654843;23481700;24397554;24715725;25576301;26154972;27846572;28218747;28832583;28904123;29242379;29393594;29493099;29557506;29789417;30315122;30429286;30442778;30570704;31844290;31848261;31998317;32157095;32357974;32387766;33141586;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34211107;34509645;35051231;36163342;36241641", "class_list": "", "function": "Elevated SFXN2 limits mitochondrial autophagy and increases iron-mediated energy production to promote multiple myeloma cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial amino-acid transporter that mediates transport of serine into mitochondria (PubMed:30442778). Involved in mitochondrial iron homeostasis by regulating heme biosynthesis (PubMed:30570704)., [UniProtKB, PubMed, PubMed]; Molecular cloning of SFXN2, [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]; SFXN2 functions in mitochondrial iron metabolism by regulating heme biosynthesis., [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": 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": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JSM6", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015075 monoatomic ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:1990542 mitochondrial transmembrane transport;GO:0140300 serine import into mitochondrion;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q96NB2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVK1-1", "uniprot_id": [ { "id": "T179A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVK1", "type": "external" } ], "mass": 26378.0, "length": 233, "protein_name": "Transmembrane protein 179", "gene_name": "TMEM179", "organism": "Human", "refseq_name": "transmembrane protein 179 isoform 1", "refseq_ac": [ { "id": "NP_001273318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273318", "type": "external" } ], "gene_names_uniprotkb": "TMEM179; C14orf90; TMEM179A", "gene_names_refseq": "C14orf90; TMEM179A; TMEM179", "protein_names_uniprotkb": "Transmembrane protein 179; Transmembrane protein 179A", "protein_names_refseq": "transmembrane protein 179 isoform 1; transmembrane protein 179A", "tax_id": 9606, "disease": "", "pathway": " (hsa:388021)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;35580925", "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": 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": "", "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": "Q6ZVK1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5R8-1", "uniprot_id": [ { "id": "TPPC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5R8", "type": "external" } ], "mass": 16832.0, "length": 145, "protein_name": "Trafficking protein particle complex subunit 1", "gene_name": "TRAPPC1", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 1", "refseq_ac": [ { "id": "NP_001160093", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001160093", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC1; BET5; MUM2", "gene_names_refseq": "BET5; MUM2; TRAPPC1", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 1; BET5 homolog; MUM-2; Multiple myeloma protein 2", "protein_names_refseq": "BET5 homolog; MUM-2; melanoma ubiquitous mutated 2; multiple myeloma protein 2; trafficking protein particle complex 1; trafficking protein particle complex subunit 1", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); melanoma (Disease Ontology:DOID:1909)", "pathway": " (hsa:58485); (R-HSA-204005); (R-HSA-6798695); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 292, "publication_id_list": "10445031;10559959;10582700;10679020;10747087;10788476;10818110;10825291;10903204;10982397;10990452;11035026;11038176;11120772;11179213;11237011;11285137;11306556;11516400;11689439;11703925;11746448;11784320;11805826;11917121;11927603;12058051;12070132;12221131;12235121;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15037235;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16303754;16373702;16410077;16495487;16525024;16525121;16571673;16624868;16641372;16754960;16828797;16880209;16912714;16950109;17005010;17038314;17043139;17132146;17189207;17192411;17208202;17239822;17287728;17316621;17488286;17562788;17574030;17646400;17671165;17678623;17684057;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;18843296;18991276;1900457;19109890;19164740;19345684;19403694;19490898;19620288;19638414;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20545907;20592283;20679433;20797862;20851765;20937701;20966969;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21478858;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22157747;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22675024;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23479643;23481700;23645161;23650620;23678941;23684622;23698585;23713133;23839779;23864707;24029068;24119662;24296415;24366607;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25202031;25341920;25343031;25406594;25472813;25492864;25576301;25586378;25619252;25645385;25648148;25713415;25892735;25925668;26055712;26154972;26177209;26245486;26375851;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27600516;27862975;27920218;28218747;28228285;28832583;28834231;29242379;29493099;29557506;29789417;30315122;30429286;30779550;30784271;31154438;31530632;31844290;31848261;32157095;32357974;32387766;32897882;32938616;33141586;33392160;33592498;33912179;33936100;33968037;34171305;34185709;34405274;34509645;34561969;34932366;35051231;35260532;35580925;36010968;36284347;36581221;37938771;7688123;7911226;8144603;8221884;8408203;8522602;8620540;8663406;8692836;8863739;9020086;9020161;9030515;9094723;9136770;9150144;9177194;9307973;9323142;9590177;9647643;9733780", "class_list": "", "function": "May play a role in vesicular transport from endoplasmic reticulum to Golgi., [UniProtKB, UniProtKB, UniProtKB]; Mum2 binds to the alpha1-alpha2 loop of the Bet3-Tpc6B heterodimer., [RefSeq, PubMed]; This gene product plays a role in vesicular transport of proteins to the Golgi apparatus from the endoplasmic reticulum. The encoded protein is a component of the multisubunit transport protein particle (TRAPP) complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]., [RefSeq]; This paper studies human as well as yeast TRAPP subunits., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DTR0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating;GO:0006901 vesicle coating;GO:0099022 vesicle tethering;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 29.3, "record_id": "Q9Y5R8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2D6-1", "uniprot_id": [ { "id": "TARA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2D6", "type": "external" } ], "mass": 261376.0, "length": 2365, "protein_name": "TRIO and F-actin-binding protein", "gene_name": "TRIOBP", "organism": "Human", "refseq_name": "TRIO and F-actin-binding protein isoform 6", "refseq_ac": [ { "id": "NP_001034230", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034230", "type": "external" } ], "gene_names_uniprotkb": "TRIOBP; HRIHFB2122; KIAA1662; TARA", "gene_names_refseq": "DFNB28; HRIHFB2122; TAP68; TARA; TRIOBP; dJ37E16.4", "protein_names_uniprotkb": "TRIO and F-actin-binding protein; Protein Tara; TRF1-associated protein of 68 kDa; Trio-associated repeat on actin", "protein_names_refseq": "TRF1-associated protein of 68 kDa; TRIO and F-actin-binding protein isoform 6; protein Tara; tara-like protein; trio-associated repeat on actin", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 28 (Disease Ontology:DOID:0110486)", "pathway": " (hsa:11078)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11148140;11237011;11258795;16385457;16385458;17081983;17389395;18194665;18452278;18477386;18669648;19369195;20068231;22820163;23186163;23481700;24275569;24692559;25333879;25576301;25645385;25892735;26375851;26992070;27600516;27846572;27862975;28438837;28832583;28834231;28904123;29242379;29331515;29493099;29557506;29786170;29789417;29890989;30315122;30379171;30429286;30779550;31154438;31530632;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32582212;32897882;32938616;32983136;33141586;33592498;33717175;33968037;33981976;34171305;34185709;34561969;34846842;35051231;35580925;36010968;36029164;36215666;36232351;36241641;36284347;37217939;37480305;37938771;38157020;40596516;9853615", "class_list": "", "function": "Elucidation of repeat motifs R1- and R2-related TRIOBP variants in autosomal recessive nonsyndromic hearing loss DFNB28 among indigenous South African individuals., [RefSeq, PubMed]; Plays a pivotal role in the formation of stereocilia rootlets., [UniProtKB, UniProtKB]; Regulates actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin and prevents its depolymerization (PubMed:18194665, PubMed:28438837). May also serve as a linker protein to recruit proteins required for F-actin formation and turnover (PubMed:18194665). Essential for correct mitotic progression (PubMed:22820163, PubMed:24692559)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Roles of TRIO and F-actin-binding protein in human diseases Review article Publication Status: Online-Only, [RefSeq, PubMed]; SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY., [RefSeq, PubMed]; TRIOBP modulates beta-catenin signaling by regulation of miR-29b in idiopathic pulmonary fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; TRIOBP-1 Protein Aggregation Exists in Both Major Depressive Disorder and Schizophrenia, and Can Occur through Two Distinct Regions of the Protein. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 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": 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": 13, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 76, "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": "B1AHD4;B1AHD7;F2Z2W0;F8W6V6;O94797;Q2PZW8;Q2Q3Z9;Q2Q400;Q5R3M6;Q96DW1;Q9BT77;Q9BTL7;Q9BY98;Q9Y3L4", "ec_number_list": [], "go_molecular_function": "GO:0045159 myosin II binding;GO:0051015 actin filament binding;GO:0031625 ubiquitin protein ligase binding;GO:0031267 small GTPase binding;GO:0003779 actin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton;GO:0030496 midbody", "go_biological_process": "GO:0051301 cell division;GO:0051016 barbed-end actin filament capping;GO:1900026 positive regulation of substrate adhesion-dependent cell spreading;GO:0030047 actin modification", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9H2D6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYJ3-1", "uniprot_id": [ { "id": "SYTL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYJ3", "type": "external" } ], "mass": 61857.0, "length": 562, "protein_name": "Synaptotagmin-like protein 1", "gene_name": "SYTL1", "organism": "Human", "refseq_name": "synaptotagmin-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001180237", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180237", "type": "external" } ], "gene_names_uniprotkb": "SYTL1; SB146; SLP1", "gene_names_refseq": "JFC1; SLP1; SYTL1", "protein_names_uniprotkb": "Synaptotagmin-like protein 1; Exophilin-7; Protein JFC1", "protein_names_refseq": "NADPH oxidase-related, C2 domain-containing protein; exophilin-7; synaptotagmin-like protein 1 isoform 1; synaptotagmin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84958); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "10202141;11237011;11278853;11773082;12137562;15998322;16004602;16055087;16395330;17658474;17901050;18199687;18266782;18319245;18466115;20095038;20116244;20363736;20404108;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23186163;23562278;23783831;25576301;25892735;27846572;28832583;29242379;29493099;29557506;29769354;30779550;31154438;31844290;31848261;32502341;32983136;33981976;35051231;35580925;36107384;37933909;39894887", "class_list": "", "function": "ELK1 suppresses SYTL1 expression by recruiting HDAC2 in bladder cancer progression., [RefSeq, PubMed]; Evidence that JFC1 differentially regulates the secretion of PSAP and PSA, and that Rab27a and PI3K play a central role in the exocytosis of prostate-specific markers, [RefSeq, PubMed]; Jfc1/synaptotagmin-like protein 1 (Slp1) contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slp1/Jfc1 specifically and directly binds the GTP-bound form of Rab27A (J. Biol. Chem. 277, (2002) 9212-9218; PMID: 11773082)., [RefSeq, PubMed]; May play a role in vesicle trafficking (By similarity). Binds phosphatidylinositol 3,4,5-trisphosphate. Acts as a RAB27A effector protein and may play a role in cytotoxic granule exocytosis in lymphocytes (By similarity)., [UniProtKB, PubMed, PubMed]; These results suggest that both Slp1 and Slp2-a may form part of a docking complex, capturing secretory lysosomes at the immunological synapse., [RefSeq, PubMed]; Transcriptional activation of JFC1 by the TNFalpha/NF-kappaB pathway is significant in prostate carcinoma cell lines, [RefSeq, PubMed]; WTAP enhances the instability of SYTL1 mRNA caused by YTHDF2 in bladder 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": 3, "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": "Q5SSC9;Q96BB6;Q96GU6;Q96S89;Q96SI0", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0042043 neurexin family protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0042470 melanosome;GO:0070382 exocytic vesicle;GO:0031528 microvillus membrane", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q8IYJ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7C8-1", "uniprot_id": [ { "id": "TAF8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7C8", "type": "external" } ], "mass": 34262.0, "length": 310, "protein_name": "Transcription initiation factor TFIID subunit 8", "gene_name": "TAF8", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 8 isoform 1", "refseq_ac": [ { "id": "NP_612639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612639", "type": "external" } ], "gene_names_uniprotkb": "TAF8; TAFII43; TBN", "gene_names_refseq": "II; NEDMLHB; TAF(II)43; TAF8; TAFII-43; TAFII43; TAF; TBN", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 8; Protein taube nuss; TAFII-43; TAFII43; TBP-associated factor 43 kDa; TBP-associated factor 8; Transcription initiation factor TFIID 43 kDa subunit; hTAFII43", "protein_names_refseq": "TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa; TBP-associated factor 43 kDa; TBP-associated factor 8; TBP-associated factor TAFII43; TBP-associated factor, RNA polymerase II, 43 kD; hTAFII43; protein taube nuss; taube nuss homolog; transcription initiation factor TFIID 43 kDa subunit; transcription initiation factor TFIID subunit 8 isoform 1; transcription initiation factor TFIID subunit 8", "tax_id": 9606, "disease": "neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (MONDO:MONDO:0859266)", "pathway": " (hsa:129685); (R-HSA-167161); (R-HSA-167162); (R-HSA-167172); (R-HSA-674695); (R-HSA-6804756); (R-HSA-6807505); (R-HSA-73776); (R-HSA-73779); (R-HSA-75953); (R-HSA-76042)", "pathway_count": 11, "publication_count": 154, "publication_id_list": "10022900;10024882;10199401;10435622;10500146;10570149;10604467;10673500;10673501;10710310;10723029;10884347;11237011;11239457;11433015;11447225;11486021;11511362;11546806;11551930;11739720;11740489;11780126;11784853;11856838;11859374;11884399;12064478;12393879;12414730;12574128;12676794;12702766;12851404;12914926;1310361;14580349;14701755;14702041;15053879;1535687;15489290;15866171;15870280;16239144;16308568;16322561;16901896;17108107;17349958;17375202;1739980;17591690;18079403;1829677;18490454;18669648;19121998;1939271;19667075;19965871;20068231;20305658;20457598;20959462;2125285;21317932;22137580;22231121;22252320;22441827;23000554;23166507;23186163;23485397;23676219;23932780;24097444;24145406;24270878;2449431;24714562;24715725;24874608;24997600;25576301;25675981;26154972;26992070;28411811;29242379;2944599;29485866;29557506;29648665;30379171;30429286;31154438;31844290;32157095;32350084;32387766;32488085;32502341;32897882;32938616;33141586;33392160;33592498;33717175;33795473;33936100;33968037;34087483;34171305;34509645;34634302;35051231;35251023;35580925;35759269;36010968;36215666;36241641;38253038;40596516;7151173;7601352;7660122;7660129;7660130;7715707;8156590;8253082;8330735;8339931;8370526;8465201;8490964;8628262;8668525;8946909;9009278;9153304;9188510;9256425;9353262;9405375;9407024;9450929;9489704;9705341;9832505;9925639", "class_list": "", "function": "TAF8 mutant protein with an unrelated C-terminus. The mutant TAF8 protein could not be detected in extracts from the patient's fibroblasts, indicating a loss of TAF8 function and that the mutation is most likely causative, [RefSeq, PubMed]; TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival., [RefSeq, PubMed]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC) (PubMed:33795473). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:33795473). The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C (PubMed:33795473). TAF8 is involved in forming the TFIID-B module, together with TAF5 (PubMed:33795473). Mediates both basal and activator-dependent transcription (PubMed:14580349). Plays a role in the differentiation of preadipocyte fibroblasts to adipocytes, however, does not seem to play a role in differentiation of myoblasts (PubMed:14580349). Required for the integration of TAF10 in the TAF complex (PubMed:14580349). May be important for survival of cells of the inner cell mass which constitute the pluripotent cell population of the early embryo (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity 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": 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": 0, "reported_glycation": 0, "reported_snv": 12, "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": "Q5T0K1;Q8N4R9;Q96M52", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0005669 transcription factor TFIID complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0060261 positive regulation of transcription initiation by RNA polymerase II;GO:0030154 cell differentiation;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0042789 mRNA transcription by RNA polymerase II;GO:0051457 maintenance of protein location in nucleus", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "Q7Z7C8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCD6-1", "uniprot_id": [ { "id": "TANC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCD6", "type": "external" } ], "mass": 219650.0, "length": 1990, "protein_name": "Protein TANC2", "gene_name": "TANC2", "organism": "Human", "refseq_name": "protein TANC2 isoform 1", "refseq_ac": [ { "id": "NP_079461", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079461", "type": "external" } ], "gene_names_uniprotkb": "TANC2; KIAA1148; KIAA1636", "gene_names_refseq": "IDDALDS; ROLSA; TANC2; rols", "protein_names_uniprotkb": "Protein TANC2; Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2", "protein_names_refseq": "protein TANC2 isoform 1; protein TANC2; putative ankyrin-repeat containing protein; rolling pebbles homolog B; tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2", "tax_id": 9606, "disease": "intellectual developmental disorder with autistic features and language delay, with or without seizures (Disease Ontology:DOID:0081430)", "pathway": " (hsa:26115)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11237011;15144186;17081983;18220336;23033978;23186163;24148822;25576301;25645385;27397612;27600516;27846572;27869121;28218747;28493397;28657654;29237092;29351928;29393594;29437277;29557506;29786170;29789417;30021165;30379171;30484775;30620550;31373491;31492838;31616000;31844290;32157095;32357974;32387766;32488085;32502341;32574038;32938616;33592498;33912179;33968037;33976205;33981976;34087483;34171305;34357683;34405274;35051231;35132862;35254053;35289036;35318648;36010968;36215666;36241641;36284347;36326272;37217939;37340703;38253038;38665916;39302247;39531497;39534244;40307207", "class_list": "", "function": "-RAD21 and EIF3H, both on chromosome 8q23, CHRAC1 on chromosome 8q24.3 and TANC2 on chromosome 17q23-were confirmed to be driver genes regulating the proliferation/survival of clonogenic breast cancer cells, [RefSeq, PubMed]; HPV-18E6 Inhibits Interactions between TANC2 and SNX27 in a PBM-Dependent Manner and Promotes Increased Cell Proliferation., [RefSeq, PubMed]; Pediatric patients with disruptive TANC2 mutations present with autism, intellectual disability, and delayed language and motor development. In addition to a variable degree of epilepsy and facial dysmorphism, we observe a pattern of more complex psychiatric dysfunction or behavioral problems in adult probands or carrier parents. Publication Status: Online-Only, [RefSeq, PubMed]; Scaffolding protein in the dendritic spines which acts as immobile postsynaptic posts able to recruit KIF1A-driven dense core vesicles to dendritic spines., [UniProtKB, PubMed]; Tanc2-mediated mTOR inhibition balances mTORC1/2 signaling in the developing mouse brain and human neurons. Erratum:[Nat Commun. 2022 Nov 1;13(1):6544. doi: 10.1038/s41467-022-33972-9. PMID: 36319630] 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 15, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 57, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "Q9HAC3;Q9NW88;Q9NXY9;Q9ULS2", "ec_number_list": [], "go_molecular_function": "GO:0098919 structural constituent of postsynaptic density", "go_cellular_component": "GO:0030424 axon;GO:0043197 dendritic spine;GO:0098794 postsynapse", "go_biological_process": "GO:0060998 regulation of dendritic spine development;GO:0061001 regulation of dendritic spine morphogenesis;GO:0099519 dense core granule cytoskeletal transport", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9HCD6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00445-1", "uniprot_id": [ { "id": "SYT5_HUMAN", "url": "https://www.uniprot.org/uniprot/O00445", "type": "external" } ], "mass": 42900.0, "length": 386, "protein_name": "Synaptotagmin-5", "gene_name": "SYT5", "organism": "Human", "refseq_name": "synaptotagmin-5 isoform 1", "refseq_ac": [ { "id": "NP_003171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003171", "type": "external" } ], "gene_names_uniprotkb": "SYT5", "gene_names_refseq": "SYT5", "protein_names_uniprotkb": "Synaptotagmin-5; Synaptotagmin V; SytV", "protein_names_refseq": "synaptotagmin V; synaptotagmin-5 isoform 1; sytV", "tax_id": 9606, "disease": "congenital myasthenic syndrome 7 (Disease Ontology:DOID:0110659); congenital myasthenic syndrome (Disease Ontology:DOID:3635); neuromuscular junction disease (Disease Ontology:DOID:439)", "pathway": " (hsa:6861); (R-HSA-422356)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10194514;10206966;10342826;10424882;10526167;10773014;10866047;10868950;11078440;11078469;11237011;11264248;11577798;11716850;11780755;11815450;11815460;11815462;11815463;11873862;12196472;12403834;12475777;12684222;12764427;12887316;1309948;13459201;14514350;15000528;15305887;15504896;15572341;15585596;15678092;15820774;16332676;16443778;16513675;16556766;16714477;16868246;17021801;17259518;17380317;17660294;17900700;17919183;18162464;18346985;18596924;19587354;20086079;20471030;22102235;23992284;26517901;27793683;29108130;29786170;31067468;31844290;32157095;33592498;33912179;33968037;34357683;3517644;3923453;39894887;6019353;6424440;6435940;7589840;7593639;7641683;7929812;8027028;8457197;8675920;8987985;8997178;9177789;9350615;9726229;9739505;9751501;9914469", "class_list": "", "function": "Ca(2+)-binding pocket of synaptotagmin 5 C2A domain, [RefSeq, PubMed]; Crystals of synaptotagmin 5 belonged to the hexagonal space group P6(5), with unit-cell parameters a = b = 93.97, c = 28.05 A., [RefSeq, PubMed]; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Regulates the Ca(2+)-dependent secretion of norepinephrine in PC12 cells. Required for export from the endocytic recycling compartment to the cell surface (By similarity)., [UniProtKB]; Results suggest a novel putative functional role for the GST-synaptotagmin V complex in human breast cancers. As this association of GST M1-synaptotagmin was not seen in adjacent non-cancerous tissues, this can be used as a marker for breast cancers., [RefSeq, PubMed]; Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]., [RefSeq]; This protein has been found differentially expressed in thalami from patients with schizophrenia., [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": 1, "reported_glycation": 0, "reported_snv": 15, "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": "B3KWJ8;B7Z300;Q86X72", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0046982 protein heterodimerization activity;GO:0005509 calcium ion binding;GO:0019905 syntaxin binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0048471 perinuclear region of cytoplasm;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0016192 vesicle-mediated transport;GO:0017158 regulation of calcium ion-dependent exocytosis;GO:2000300 regulation of synaptic vesicle exocytosis;GO:0099502 calcium-dependent activation of synaptic vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "O00445-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP81-1", "uniprot_id": [ { "id": "SYSM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP81", "type": "external" } ], "mass": 58283.0, "length": 518, "protein_name": "Serine--tRNA ligase, mitochondrial", "gene_name": "SARS2", "organism": "Human", "refseq_name": "serine--tRNA ligase, mitochondrial isoform a precursor", "refseq_ac": [ { "id": "NP_001139373", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139373", "type": "external" } ], "gene_names_uniprotkb": "SARS2; SARSM", "gene_names_refseq": "SARS2; SARSM; SARS; SERS; SYS; SerRSmt; SerRS; mtSerRS", "protein_names_uniprotkb": "Serine--tRNA ligase, mitochondrial; 6.1.1.11; SerRSmt; SerRS; Seryl-tRNA synthetase; Seryl-tRNA(Ser/Sec) synthetase", "protein_names_refseq": "mitochondrial seryl-tRNA synthetase; serine tRNA ligase 2, mitochondrial; serine--tRNA ligase, mitochondrial isoform a precursor; serine--tRNA ligase, mitochondrial; seryl-tRNA synthetase, mitochondrial; seryl-tRNA(Ser/Sec) synthetase", "tax_id": 9606, "disease": "hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (MONDO:MONDO:0013458)", "pathway": " (hsa:54938); (R-HSA-379726)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;18083107;20068231;21255763;23301498;24715725;28218747;28510447;28832583;28904123;29351928;29437277;29557506;30315122;31844290;33141586;33912179;33972171;34171305;34357683;35051231;36056923;36088542;36350636;37217939;40596516;7755634;8078941;9278442;9466989", "class_list": "", "function": "Catalyzes the attachment of serine to tRNA(Ser). Is also probably able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease., [RefSeq, PubMed]; Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations., [RefSeq, PubMed]; Selective degradation of tRNASer(AGY) is the primary driver for mitochondrial seryl-tRNA synthetase-related disease., [RefSeq, PubMed]; The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4., [RefSeq, PubMed]; This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NHW7;B4DE10;Q9BVP3", "ec_number_list": [ { "id": "6.1.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.11", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0000049 tRNA binding;GO:0004828 serine-tRNA ligase activity;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006434 seryl-tRNA aminoacylation;GO:0070158 mitochondrial seryl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9NP81-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99250-1", "uniprot_id": [ { "id": "SCN2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99250", "type": "external" } ], "mass": 227975.0, "length": 2005, "protein_name": "Sodium channel protein type 2 subunit alpha", "gene_name": "SCN2A", "organism": "Human", "refseq_name": "sodium channel protein type 2 subunit alpha isoform 1", "refseq_ac": [ { "id": "NP_001035232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035232", "type": "external" } ], "gene_names_uniprotkb": "SCN2A; HBA; NAC2; SCN2A1; SCN2A2", "gene_names_refseq": "BFIC3; BFIS3; BFNIS; DEE11; EA9; EIEE11; HBA; HBSCII; HBSCI; NAC2; Na(v)1.2; Nav1.2; SCN2A1; SCN2A2; SCN2A", "protein_names_uniprotkb": "Sodium channel protein type 2 subunit alpha; HBSC II; Sodium channel protein brain II subunit alpha; Sodium channel protein type II subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.2", "protein_names_refseq": "sodium channel protein brain II subunit alpha; sodium channel protein type 2 subunit alpha isoform 1; sodium channel protein type II subunit alpha; sodium channel protein, brain type 2 alpha subunit; sodium channel, voltage-gated, type II, alpha 1 polypeptide; sodium channel, voltage-gated, type II, alpha 2 polypeptide; sodium channel, voltage-gated, type II, alpha subunit; voltage-gated sodium channel subtype II; voltage-gated sodium channel subunit alpha Nav1.2; voltage-gated sodium channel type II alpha subunit", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); episodic ataxia type 9 (Disease Ontology:DOID:0060965); developmental and epileptic encephalopathy 11 (Disease Ontology:DOID:0080421); Dravet syndrome (Disease Ontology:DOID:0080422); benign familial infantile seizures 3 (Disease Ontology:DOID:0081116); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030)", "pathway": " (hsa:6326); (R-HSA-445095); (R-HSA-5576892); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 130, "publication_id_list": "10761935;11222639;11237011;11245985;11290418;11371648;11738931;11917125;12015988;12243921;12610651;1309946;1317301;1325650;14500339;14634208;15000524;15028761;15048894;15353592;15385606;15738140;16122630;16417554;16597699;16904324;17021166;17167479;17223356;17386050;17506496;17544618;18184654;1846440;18479388;19064667;19104071;19406745;19696921;19783390;19786696;20022913;20033988;20371507;20956790;21127204;21422378;21566136;21795555;21817159;22054663;22495306;22514276;22591750;22612257;22677033;23033978;23195492;23360469;23550958;23632330;23662938;23708187;23758435;23804213;23827426;23935176;23988467;24157691;24214976;24297919;24360415;24463883;24497506;24579881;24633359;24659627;24710820;25457084;25459969;25772804;25818041;25853419;25969726;25982755;26138355;26291284;26311622;26377607;26555645;26637798;26645390;26894959;26993267;27159988;27328862;27864847;28065826;28256214;28428547;28709814;28832583;28904123;29466837;29625812;29635106;29659026;29744740;29844171;30013099;30062040;30144217;30165711;30415926;30563861;30765605;31844290;33392160;33592498;33912179;34357683;37117223;37217939;38097767;38148154;38564633;7720699;8107964;8288584;9065781", "class_list": "", "function": "Association of the gene SCN2A, previously identified in epilepsy syndromes, with the risk of autism Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of 5' untranslated regions SCN2A, and identification of cis-conserved noncoding sequences, [RefSeq, PubMed]; Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene., [RefSeq, PubMed]; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Pathogenic gating pore current conducted by autism-related mutations in the NaV1.2 brain sodium channel., [RefSeq, PubMed]; Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]., [RefSeq]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "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": 0, "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": 27, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 96, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 9, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6NC14;A6NIQ5;Q14472;Q53T77;Q9BZC9;Q9BZD0", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005248 voltage-gated sodium channel activity;GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0033268 node of Ranvier;GO:0001518 voltage-gated sodium channel complex", "go_biological_process": "GO:0007399 nervous system development;GO:0007613 memory;GO:0019228 neuronal action potential;GO:0051402 neuron apoptotic process;GO:0042552 myelination", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q99250-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UI33-1", "uniprot_id": [ { "id": "SCNBA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UI33", "type": "external" } ], "mass": 204922.0, "length": 1791, "protein_name": "Sodium channel protein type 11 subunit alpha", "gene_name": "SCN11A", "organism": "Human", "refseq_name": "sodium channel protein type 11 subunit alpha", "refseq_ac": [ { "id": "NP_054858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054858", "type": "external" } ], "gene_names_uniprotkb": "SCN11A; SCN12A; SNS2", "gene_names_refseq": "FEPS3; HSAN7; NAV1.9; NaN; PN5; SCN11A; SCN12A; SNS-2", "protein_names_uniprotkb": "Sodium channel protein type 11 subunit alpha; PN5; Peripheral nerve sodium channel 5; Sensory neuron sodium channel 2; Sodium channel protein type XI subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.9; hNaN", "protein_names_refseq": "peripheral nerve sodium channel 5; sensory neuron sodium channel 2; sodium channel protein type 11 subunit alpha; sodium channel protein type XI subunit alpha; sodium channel, voltage-gated, type XI, alpha polypeptide; sodium channel, voltage-gated, type XI, alpha subunit; sodium channel, voltage-gated, type XII, alpha polypeptide; voltage-gated sodium channel subunit alpha Nav1.9", "tax_id": 9606, "disease": "hereditary sensory and autonomic neuropathy (Disease Ontology:DOID:0050548); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); hereditary sensory and autonomic neuropathy type 7 (Disease Ontology:DOID:0070149); Dravet syndrome (Disease Ontology:DOID:0080422); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); familial episodic pain syndrome 3 (Disease Ontology:DOID:0111731); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:11280); (R-HSA-445095); (R-HSA-5576892)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10580103;10623608;11222639;11237011;11290418;12384689;1309946;14500339;15000524;15302875;16597699;16904324;17223356;18184654;19406745;21127204;21566136;21817159;22054663;22514276;23481700;23804213;24036948;24207120;24715725;24776970;25791876;26645915;27224030;29557506;31154438;31844290;32488085;34930944;35051231;35580925;37061202;37186898;37217939;38734669;38999942;39894887;8107964", "class_list": "", "function": "Contributions of NaV1.8 and NaV1.9 to excitability in human induced pluripotent stem-cell derived somatosensory neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated SCN11A concentrations associated with lower serum lipid levels in patients with major depressive disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient., [UniProtKB, UniProtKB, UniProtKB]; Sodium channel mediating the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Involved in membrane depolarization during action potential in nociceptors which function as key relay stations for the electrical transmission of pain signals from the periphery to the central nervous system. Also involved in rapid BDNF-evoked neuronal depolarization., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The influence of Nav1.9 channels on intestinal hyperpathia and dysmotility. Review article, [RefSeq, PubMed]; Understanding the physiological role of NaV1.9: Challenges and opportunities for pain modulation. Review article, [RefSeq, PubMed]; Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is highly expressed in nociceptive neurons of dorsal root ganglia and trigeminal ganglia. It mediates brain-derived neurotrophic factor-evoked membrane depolarization and is a major effector of peripheral inflammatory pain hypersensitivity. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy type VII and familial episodic pain syndrome-3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]., [RefSeq]; We demonstrate that the tetrodotoxin-insensitive sodium channel Na(V)1.9 underlies the neurotrophin-evoked excitation, [RefSeq, PubMed]", "predicted_glycosites": 9, "predicted_n_glycosites": 8, "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": 96, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A6NN05;C9JD48;C9JR31;Q68K15;Q8NDX3;Q9UHE0;Q9UHM0", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005248 voltage-gated sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0043025 neuronal cell body;GO:0070062 extracellular exosome;GO:0044295 axonal growth cone", "go_biological_process": "GO:0060538 skeletal muscle organ development;GO:0070417 cellular response to cold;GO:0061368 behavioral response to formalin induced pain;GO:0060004 reflex;GO:0007409 axonogenesis", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9UI33-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E9PQX1-1", "uniprot_id": [ { "id": "CTSRH_HUMAN", "url": "https://www.uniprot.org/uniprot/E9PQX1", "type": "external" } ], "mass": 13758.0, "length": 116, "protein_name": "Cation channel sperm-associated auxiliary subunit eta", "gene_name": "CATSPERH", "organism": "Human", "refseq_name": "cation channel sperm-associated auxiliary subunit eta isoform 1", "refseq_ac": [ { "id": "NP_001269377", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269377", "type": "external" } ], "gene_names_uniprotkb": "CATSPERH; TMEM262", "gene_names_refseq": "CATSPERH; TMEM262", "protein_names_uniprotkb": "Cation channel sperm-associated auxiliary subunit eta; Cation channel sperm-associated auxiliary subunit TMEM262; Transmembrane protein 262", "protein_names_refseq": "cation channel sperm-associated auxiliary subunit TMEM262; cation channel sperm-associated auxiliary subunit eta isoform 1; cation channel sperm-associated auxiliary subunit eta; transmembrane protein 262", "tax_id": 9606, "disease": "", "pathway": " (hsa:100130348)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;39894887", "class_list": "", "function": "Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation., [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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036128 CatSper complex;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "E9PQX1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQS2-1", "uniprot_id": [ { "id": "SYT15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQS2", "type": "external" } ], "mass": 47375.0, "length": 421, "protein_name": "Synaptotagmin-15", "gene_name": "SYT15", "organism": "Human", "refseq_name": "synaptotagmin-15 isoform a", "refseq_ac": [ { "id": "NP_114118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114118", "type": "external" } ], "gene_names_uniprotkb": "SYT15", "gene_names_refseq": "CHR10SYT; SYT15; sytXV", "protein_names_uniprotkb": "Synaptotagmin-15; Chr10Syt; Synaptotagmin XV; SytXV", "protein_names_refseq": "chr10 synaptotagmin; synaptotagmin XV-a; synaptotagmin-15 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:83849)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;11543631;12788067;28832583;29242379;29632046;36241641", "class_list": "", "function": "May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues., [UniProtKB]; Molecular cloning and structure, [RefSeq, PubMed]; This gene encodes a member of the Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A5D6W8;Q5VY53;Q5VY55;Q7Z439;Q7Z440", "ec_number_list": [], "go_molecular_function": "GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070382 exocytic vesicle;GO:0016020 membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0017158 regulation of calcium ion-dependent exocytosis", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9BQS2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS93-1", "uniprot_id": [ { "id": "TM7S3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS93", "type": "external" } ], "mass": 64166.0, "length": 570, "protein_name": "Transmembrane 7 superfamily member 3", "gene_name": "TM7SF3", "organism": "Human", "refseq_name": "transmembrane 7 superfamily member 3 precursor", "refseq_ac": [ { "id": "NP_057635", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057635", "type": "external" } ], "gene_names_uniprotkb": "TM7SF3", "gene_names_refseq": "TM7SF3", "protein_names_uniprotkb": "Transmembrane 7 superfamily member 3; Seven span transmembrane protein", "protein_names_refseq": "seven span transmembrane protein; seven transmembrane protein TM7SF3; transmembrane 7 superfamily member 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:51768)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "10828615;11237011;21853325;23481700;24714562;25418920;25892735;26375851;26728094;26992070;27740623;27920218;28218747;28467828;28514659;28832583;28834231;28904123;29242379;29317506;29393594;29437277;29493099;29557506;29632046;31844290;32265295;32350084;32502341;33141586;34171305;34357683;34561969;36215666;38665916;38670107", "class_list": "", "function": "Data indicate that TM7SF3 plays a role in inhibition of cytokine-induced cell death/apoptosis in pancreatic beta cells and in inhibition of insulin secretion from pancreatic beta cells., [RefSeq, PubMed]; Involved in the inhibition of cytokine-induced death of pancreatic beta cells. Involved in the promotion of insulin secretion from pancreatic beta cells (PubMed:21853325). Is a downstream transcriptional target of p53/TP53, and acts as a pro-survival homeostatic factor that attenuates the development of cellular stress. Maintains protein homeostasis and promotes cell survival through attenuation of endoplasmic reticulum (ER) stress and the subsequent induction of unfolded protein response (UPR) (PubMed:27740623)., [UniProtKB, PubMed, PubMed]; Lack of TM7SF3 activates nitric oxide production and the PKR-like ER kinase arm of the unfolded protein response that involves inhibition of eIF2alpha activity, enhanced expression of ATF4 and ATF3, and induction of CHOP that culminates in apoptosis., [RefSeq, PubMed]; TM7SF3 controls TEAD1 splicing to prevent MASH-induced liver fibrosis., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 17, "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": "B3KMZ3;Q9NUS4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016020 membrane", "go_biological_process": "GO:0032024 positive regulation of insulin secretion;GO:0043069 negative regulation of programmed cell death;GO:0034620 cellular response to unfolded protein", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9NS93-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTF0-1", "uniprot_id": [ { "id": "THUM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTF0", "type": "external" } ], "mass": 56433.0, "length": 503, "protein_name": "U6 snRNA (guanine-N(2))-methyltransferase THUMPD2", "gene_name": "THUMPD2", "organism": "Human", "refseq_name": "U6 snRNA (guanine-N(2))-methyltransferase THUMPD2 isoform 1", "refseq_ac": [ { "id": "NP_079540", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079540", "type": "external" } ], "gene_names_uniprotkb": "THUMPD2; C2orf8", "gene_names_refseq": "C2orf8; THUMPD2", "protein_names_uniprotkb": "U6 snRNA (guanine-N(2))-methyltransferase THUMPD2; 2.1.1.-; THUMP domain-containing protein 2", "protein_names_refseq": "SAM-dependent methyltransferase; THUMP domain containing 2; THUMP domain-containing protein 2; U6 snRNA (guanine-N(2))-methyltransferase THUMPD2 isoform 1; U6 snRNA (guanine-N(2))-methyltransferase THUMPD2; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80745)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;12063391;25880248;25892735;26992070;28228285;28832583;29493099;29557506;30429286;31217245;31844290;32157095;32387766;33968037;34087483;34171305;34948388;37283053;38165050", "class_list": "", "function": "Catalytic subunit of the THUMPD2-TRM112 methyltransferase complex, that specifically mediates the S-adenosyl-L-methionine-dependent N(2)-methylation of guanosine nucleotides, most probably at position 72 (m2G72), in the U6snRNA of the major spliceosome (PubMed:37283053). This modification in the U6 snRNA affects the constitutive splicing efficiency of introns that have suboptimal splice sites and can impact final mRNA levels (PubMed:37283053)., [UniProtKB, PubMed]; THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome catalytic center and regulates pre-mRNA splicing and retinal degeneration., [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": "A8K7I7;Q53TT8;Q53TV0", "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:0016423 tRNA (guanine) methyltransferase activity;GO:0003723 RNA binding;GO:0160230 U6 snRNA (guanine-N(2))-methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0043527 tRNA methyltransferase complex", "go_biological_process": "GO:0030488 tRNA methylation;GO:0001510 RNA methylation;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9BTF0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q19AV6-1", "uniprot_id": [ { "id": "ZSWM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q19AV6", "type": "external" } ], "mass": 15386.0, "length": 140, "protein_name": "Zinc finger SWIM domain-containing protein 7", "gene_name": "ZSWIM7", "organism": "Human", "refseq_name": "zinc finger SWIM domain-containing protein 7", "refseq_ac": [ { "id": "NP_001036162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036162", "type": "external" } ], "gene_names_uniprotkb": "ZSWIM7; SWS1", "gene_names_refseq": "ODG10; SPGF71; SWS1; ZSWIM7", "protein_names_uniprotkb": "Zinc finger SWIM domain-containing protein 7; SWIM domain-containing and Srs2-interacting protein 1 homolog; SWIM-type zinc finger domain-containing protein 7", "protein_names_refseq": "SWIM domain-containing and Srs2-interacting protein 1 homolog; SWIM-type zinc finger domain-containing protein 7; zinc finger SWIM domain-containing protein 7", "tax_id": 9606, "disease": "ovarian dysgenesis 10 (Disease Ontology:DOID:0061014); spermatogenic failure 71 (Disease Ontology:DOID:0070570)", "pathway": " (hsa:125150)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;16710300;21965664;24715725;25576301;25645385;26992070;27846572;27920218;28228285;28832583;29242379;29493099;30429286;32157095;32719396;33141586;33713115;34211107;34253720;34402903;35218660;36202298;39169038;40345587;40991243", "class_list": "", "function": "A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females. Review article, [RefSeq, PubMed]; Involved in early stages DNA double-strand break (DSB) repair via homologous recombination (HR) (PubMed:16710300, PubMed:21965664, PubMed:34253720, PubMed:39169038, PubMed:40345587). Forms a heterodimeric complex with ZSWIM7/SWS1 that promotes HR by regulating replication protein-A (RPA) dynamics on single-stranded DNA, thereby stabilizing RAD51 and DMC1 filaments on DNA (PubMed:34253720, PubMed:39169038, PubMed:40345587). The SWSAP1-ZSWIM7/SWS1 heterodimer is essential during meiosis by stabilizing DMC1 filaments (PubMed:32719396, PubMed:33713115, PubMed:34402903). In contrast, it is critical for only certain types of homologous-directed DNA repair, such as inter-homolog homologous recombination (IR-HR) (PubMed:34253720). IR-HR is a DNA repair mechanism where a cell repairs a DSB on one chromosome using the matching homologous chromosome as a template, rather than the sister chromatid (PubMed:34253720)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency. Erratum:[J Clin Endocrinol Metab. 2022 Aug 18;107(9):e3969. doi: 10.1210/clinem/dgac345. PMID: 35689663], [RefSeq, PubMed]; The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA. Publication Status: Online-Only, [RefSeq, PubMed]; ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0097196 Shu complex", "go_biological_process": "GO:0050821 protein stabilization;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q19AV6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L08-1", "uniprot_id": [ { "id": "SUSD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L08", "type": "external" } ], "mass": 27119.0, "length": 255, "protein_name": "Sushi domain-containing protein 3", "gene_name": "SUSD3", "organism": "Human", "refseq_name": "sushi domain-containing protein 3 isoform c", "refseq_ac": [ { "id": "NP_001273935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273935", "type": "external" } ], "gene_names_uniprotkb": "SUSD3; PRO34275", "gene_names_refseq": "SUSD3", "protein_names_uniprotkb": "Sushi domain-containing protein 3", "protein_names_refseq": "sushi domain-containing protein 3 isoform c; sushi domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:203328)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;12975309;16959974;18507432;23481700;23719902;24413080;24715725;25418920;25502872;25576301;26154972;26375851;26745129;26811146;26929215;27846572;27920218;28063628;28467828;28514659;28832583;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;31092671;31844290;32265295;32350084;32357974;32387766;32502341;33141586;33298915;33936100;34078123;34211107;35051231;35154160;36215666;36284347;37938771", "class_list": "", "function": "Data indicate that sushi domain containing 3 (SUSD3) is a promoter of estrogen-dependent cell proliferation and regulator of cell-cell and cell-substrate interactions and migration in breast cancer., [RefSeq, PubMed]; High expression of SUSD3 is associated with breast cancer., [RefSeq, PubMed]; May play a role in breast tumorigenesis by promoting estrogen-dependent cell proliferation, cell-cell interactions and migration., [UniProtKB, 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": "Q49AA6;Q6UXV7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q96L08-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15031-1", "uniprot_id": [ { "id": "SYLM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15031", "type": "external" } ], "mass": 101976.0, "length": 903, "protein_name": "Leucine--tRNA ligase, mitochondrial", "gene_name": "LARS2", "organism": "Human", "refseq_name": "leucine--tRNA ligase, mitochondrial", "refseq_ac": [ { "id": "NP_056155", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056155", "type": "external" } ], "gene_names_uniprotkb": "LARS2; KIAA0028", "gene_names_refseq": "HLASA; LARS2; LEURS; PRLTS4; mtLeuRS", "protein_names_uniprotkb": "Leucine--tRNA ligase, mitochondrial; 6.1.1.4; LeuRS; Leucyl-tRNA synthetase", "protein_names_refseq": "leucine tRNA ligase 2, mitochondrial; leucine tRNA ligase 2, mitocondrial; leucine translase; leucine--tRNA ligase, mitochondrial; probable leucine--tRNA ligase, mitochondrial; probable leucyl-tRNA synthetase, mitochondrial", "tax_id": 9606, "disease": "Perrault syndrome (Disease Ontology:DOID:0050857); mitochondrial metabolism disease (Disease Ontology:DOID:700); hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome (MONDO:MONDO:0014869)", "pathway": " (hsa:23395); (R-HSA-379726)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;19608861;20058876;20068231;20194621;23186163;23541342;24715725;25892735;26537577;26992070;27862975;28510447;29493099;29632711;29769354;31844290;32938616;32983136;33633747;33936100;34357683;35051231;35659337;35750896;36215666;36241641;36436798;38186093;39052101;40914422;7755634;8078941;9278442;9466989", "class_list": "", "function": "Catalyzes the attachment of leucine to its cognate tRNA., [UniProtKB, PubMed]; Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families. Publication Status: Online-Only, [RefSeq, PubMed]; Leucine-tRNA-synthase-2-expressing B cells contribute to colorectal cancer immunoevasion. Erratum:[Immunity. 2022 Sep 13;55(9):1748. doi: 10.1016/j.immuni.2022.07.017. PMID: 36103860], [RefSeq, PubMed]; Lin28a induced mitochondrial dysfunction in human granulosa cells via suppressing LARS2 expression., [RefSeq, PubMed]; Neonatal lactic acidosis explained by LARS2 defect., [RefSeq, PubMed]; This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]., [RefSeq]; [Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes]., [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": 24, "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": "6.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.4", "type": "external" } ], "go_molecular_function": "GO:0002161 aminoacyl-tRNA deacylase activity;GO:0004823 leucine-tRNA ligase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005737 cytoplasm", "go_biological_process": "GO:0006429 leucyl-tRNA aminoacylation;GO:0006418 tRNA aminoacylation for protein translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q15031-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQD0-1", "uniprot_id": [ { "id": "SCN8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQD0", "type": "external" } ], "mass": 225280.0, "length": 1980, "protein_name": "Sodium channel protein type 8 subunit alpha", "gene_name": "SCN8A", "organism": "Human", "refseq_name": "sodium channel protein type 8 subunit alpha isoform 2", "refseq_ac": [ { "id": "NP_001171455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171455", "type": "external" } ], "gene_names_uniprotkb": "SCN8A; MED", "gene_names_refseq": "BFIS5; CERIII; CIAT; DEE13; EIEE13; MED; MYOCL2; NaCh6; Nav1.6; PN4; SCN8A", "protein_names_uniprotkb": "Sodium channel protein type 8 subunit alpha; Sodium channel protein type VIII subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.6", "protein_names_refseq": "hNa6/Scn8a voltage-gated sodium channel; sodium channel protein type 8 subunit alpha isoform 2; sodium channel protein type 8 subunit alpha; sodium channel, voltage gated, type VIII, alpha subunit; voltage-gated sodium channel subunit alpha Nav1.6; voltage-gated sodium channel type VIII alpha protein", "tax_id": 9606, "disease": "early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); Dravet syndrome (Disease Ontology:DOID:0080422); developmental and epileptic encephalopathy 13 (Disease Ontology:DOID:0080445); benign familial infantile seizures 5 (Disease Ontology:DOID:0081118); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); epilepsy (Disease Ontology:DOID:1826); congestive heart failure (Disease Ontology:DOID:6000); cognitive impairment with or without cerebellar ataxia (MONDO:MONDO:0013680); myoclonus, familial, 2 (MONDO:MONDO:0100092)", "pathway": " (hsa:6334); (R-HSA-445095); (R-HSA-5576892)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "11222639;11237011;11290418;1309946;14500339;15000524;15282281;16014723;16236810;16597699;16904324;17223356;18184654;19136557;19406745;21127204;21566136;21817159;22054663;22365152;22514276;23708187;23804213;24352161;24497506;24874546;24888894;25239001;25568300;25725044;25785782;25818041;26677014;26900580;26993267;27210545;27864847;28428547;28842554;28923014;29726066;31154438;31844290;32488085;32502341;32938616;33245860;33912179;34509645;35051231;36241641;36696443;36823201;37117223;37217939;37585367;37938771;38233770;38289338;38311555;39435659;8107964;9295353;9828131", "class_list": "", "function": "Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy., [RefSeq, PubMed]; Coupling of Slack and NaV1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development. Publication Status: Online-Only, [RefSeq, PubMed]; Expanding the genotype-phenotype spectrum in SCN8A-related disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient., [UniProtKB, UniProtKB]; More specifically expressed in non-neuronal cells, could play a role in sodium release from intracellular compartments and participate in the control of podosomes formation and macrophages adhesion and movement., [UniProtKB, PubMed]; Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Pore-forming subunit of a voltage-gated sodium channel complex assuming opened or closed conformations in response to the voltage difference across membranes and through which sodium ions selectively pass along their electrochemical gradient. Contributes to neuronal excitability by regulating action potential threshold and propagation., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with cognitive disability, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]., [RefSeq]; [Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene]., [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": 6, "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": 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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 10, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B9VWG8;O95788;Q9NYX2;Q9UPB2", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0031402 sodium ion binding;GO:0005248 voltage-gated sodium channel activity;GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0031410 cytoplasmic vesicle;GO:0002102 podosome", "go_biological_process": "GO:0001508 action potential;GO:0042552 myelination;GO:0086010 membrane depolarization during action potential;GO:0007422 peripheral nervous system development;GO:0035725 sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9UQD0-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX74-1", "uniprot_id": [ { "id": "TM2D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX74", "type": "external" } ], "mass": 22327.0, "length": 207, "protein_name": "TM2 domain-containing protein 1", "gene_name": "TM2D1", "organism": "Human", "refseq_name": "TM2 domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_114416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114416", "type": "external" } ], "gene_names_uniprotkb": "TM2D1; BBP", "gene_names_refseq": "BBP; TM2D1", "protein_names_uniprotkb": "TM2 domain-containing protein 1; Amyloid-beta-binding protein; hBBP", "protein_names_refseq": "Beta-amyloid peptide binding protein; TM2 domain-containing protein 1 precursor; TM2 domain-containing protein 1; amyloid-beta-binding protein; beta-amyloid-binding protein; hBBP", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:83941)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11278849;12553667;12836168;15126508;24190977;26992070;28904123;29437277;29557506;29741879;30410026;30484775;31844290;32157095;32357974;32897882;33298915;33592498;33968037;35580925;36010968;36215666;36284347;37074911", "class_list": "", "function": "A two-electrode voltage-clamp technique is used to determine that BBP is not directly coupled to G alpha(i/o), G alpha(s), or G alpha(q) proteins and that BBP may need a component other than amyloid precursor protein to exert its toxic effect with A beta., [RefSeq, PubMed]; May participate in amyloid-beta-induced apoptosis via its interaction with beta-APP42., [UniProtKB, PubMed, PubMed]; SAPP increased the proportion of migrating keratinocytes and their directional persistence. sAPP appeared to operate synergistically with fibronectin with respect to its motogenic effect., [RefSeq, PubMed]; The protein encoded by this gene is a beta-amyloid peptide-binding protein. It contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta-amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a target of neurotoxic beta-amyloid peptide, and may mediate cellular vulnerability to beta-amyloid peptide toxicity through a G protein-regulated program of cell death. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; These findings reveal that low density lipoprotein receptor-related protein 1B is a novel binding partner of beta-amyloid precursor protein (APP) that functions to decrease APP processing to amyloid beta peptides., [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": 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": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 10, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A6NDA8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0001540 amyloid-beta binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0097190 apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9BX74-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H808-1", "uniprot_id": [ { "id": "TLE6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H808", "type": "external" } ], "mass": 63473.0, "length": 572, "protein_name": "Transducin-like enhancer protein 6", "gene_name": "TLE6", "organism": "Human", "refseq_name": "transducin-like enhancer protein 6 isoform 1", "refseq_ac": [ { "id": "NP_001137458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137458", "type": "external" } ], "gene_names_uniprotkb": "TLE6", "gene_names_refseq": "GRG6; OZEMA15; PREMBL; TLE6", "protein_names_uniprotkb": "Transducin-like enhancer protein 6", "protein_names_refseq": "transducin like enhancer of split 6; transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila); transducin-like enhancer protein 6 isoform 1; transducin-like enhancer protein 6", "tax_id": 9606, "disease": "obsolete preimplantation embryonic lethality 1 (MONDO:MONDO:0014783)", "pathway": " (hsa:79816)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;18254933;18551179;24356439;25542835;26537248;29437277;31844290;31897846;32157095;32387766;33020905;34036456;34178031;34264011;36241641;36271123;37148315;37922900;39379527", "class_list": "", "function": "A novel TLE6 mutation, c.541+1G>A, identified using whole-exome sequencing in a Chinese family with female infertility., [RefSeq, PubMed]; Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development., [UniProtKB, PubMed, UniProtKB]; Expression of Tle6-like in colon cancer cells increased cell proliferation, colony-formation, cell migration, and xenograft tumorgenicity. Publication Status: Online-Only, [RefSeq, PubMed]; In this first report of a human defect in a member of the subcortical maternal subcritical maternal complex, we show that the TLE6 mutation is gender-specific and leads to the earliest known human embryonic lethality phenotype Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]., [RefSeq]; Transcriptional programmes regulated by FOXG1 and Groucho/TLE are important for BTIC-initiated brain tumour growth, implicating FOXG1 and Groucho/TLE in GBM tumourigenesis, [RefSeq, PubMed]; Two novel mutations in PADI6 and TLE6 genes cause female infertility due to arrest in embryonic development., [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": 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": "J3KMZ1", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0140094 structural constituent of cytoplasmic lattice", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005938 cell cortex;GO:0005667 transcription regulator complex;GO:0032991 protein-containing complex", "go_biological_process": "GO:0051293 establishment of spindle localization;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007015 actin filament organization;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9H808-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMB5-1", "uniprot_id": [ { "id": "T184A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMB5", "type": "external" } ], "mass": 45777.0, "length": 413, "protein_name": "Transmembrane protein 184A", "gene_name": "TMEM184A", "organism": "Human", "refseq_name": "transmembrane protein 184A", "refseq_ac": [ { "id": "NP_001091089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091089", "type": "external" } ], "gene_names_uniprotkb": "TMEM184A", "gene_names_refseq": "SDMG1; SLC51C1; TMEM184A", "protein_names_uniprotkb": "Transmembrane protein 184A", "protein_names_refseq": "sexually dimorphic, expressed in male gonads 1; transmembrane protein 184A", "tax_id": 9606, "disease": "", "pathway": " (hsa:202915)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;26769965;26769966;29557506;32938616;33968037;34087483;34185709", "class_list": "", "function": "Acts as a heparin receptor in vascular cells (By similarity). May be involved in vesicle transport in exocrine cells and Sertoli cells (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; TMEM184A functions as a heparin receptor and mediates anti-inflammatory responses of endothelial cells involving decreased JNK and p38 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": 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": "Q8TBQ6", "ec_number_list": [], "go_molecular_function": "GO:0008201 heparin binding;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0030658 transport vesicle membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZMB5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15498-1", "uniprot_id": [ { "id": "YKT6_HUMAN", "url": "https://www.uniprot.org/uniprot/O15498", "type": "external" } ], "mass": 22418.0, "length": 198, "protein_name": "Synaptobrevin homolog YKT6", "gene_name": "YKT6", "organism": "Human", "refseq_name": "synaptobrevin homolog YKT6 isoform 1", "refseq_ac": [ { "id": "NP_006546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006546", "type": "external" } ], "gene_names_uniprotkb": "YKT6", "gene_names_refseq": "YKT6", "protein_names_uniprotkb": "Synaptobrevin homolog YKT6; 2.3.1.-", "protein_names_refseq": "R-SNARE; SNARE protein Ykt6; YKT6 v-SNARE homolog; YKT6 v-SNARE protein; YKT6, S. cerevisiae, homolog of; synaptobrevin homolog YKT6 isoform 1; synaptobrevin homolog YKT6", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888)", "pathway": " (hsa:10652); (R-HSA-204005); (R-HSA-6807878); (R-HSA-6811438); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013408); (R-HSA-9013423)", "pathway_count": 9, "publication_count": 550, "publication_id_list": 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"class_list": "", "function": "A pan-cancer analysis of the oncogenic role of YKT6 in human tumors., [RefSeq, PubMed]; Abnormalities in the SNARE complex could represent a molecular substrate for abnormalities of neural connectivity in severe mental disorders, [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]; High expression of YKT6 associated with progression and poor prognosis of hepatocellular carcinoma., [RefSeq, PubMed]; Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma., [RefSeq, PubMed]; Human YKT6 forms priming complex with STX17 and SNAP29 to facilitate autophagosome-lysosome fusion., [RefSeq, PubMed]; This gene product is one of the SNARE recognition molecules implicated in vesicular transport between secretory compartments. It is a membrane associated, isoprenylated protein that functions at the endoplasmic reticulum-Golgi transport step. This protein is highly conserved from yeast to human and can functionally complement the loss of the yeast homolog in the yeast secretory pathway. [provided by RefSeq, Jul 2008]., [RefSeq]; Vesicular soluble NSF attachment protein receptor (v-SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment (PubMed:9211930, PubMed:15215310). Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5 (By similarity). Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5 (PubMed:15215310). Has a S-palmitoyl transferase activity (PubMed:15479160, PubMed:15044687). Essential for the structural and functional organization of the Golgi apparatus (PubMed:32128853)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB]; YKT6, as a potential predictor of prognosis and immunotherapy response for oral squamous cell carcinoma, is related to cell invasion, metastasis, and CD8+ T cell infiltration. 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": 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": "B4DR94;Q53F01;Q6FGU9;Q6IB15", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.-", "type": "external" }, { "id": "3.2.1.113", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.113", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "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": "3.2.1.114", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.114", "type": "external" }, { "id": "3.4.14.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.1", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "1.3.1.70", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.70", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" } ], "go_molecular_function": "GO:0045296 cadherin binding;GO:0005484 SNAP receptor activity;GO:0019706 protein-cysteine S-palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0015031 protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0042147 retrograde transport, endosome to Golgi;GO:0006903 vesicle targeting;GO:0006906 vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 55.1, "record_id": "O15498-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDZ6-1", "uniprot_id": [ { "id": "T161B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDZ6", "type": "external" } ], "mass": 55482.0, "length": 487, "protein_name": "Transmembrane protein 161B", "gene_name": "TMEM161B", "organism": "Human", "refseq_name": "transmembrane protein 161B isoform 2", "refseq_ac": [ { "id": "NP_699185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699185", "type": "external" } ], "gene_names_uniprotkb": "TMEM161B; PRO1313", "gene_names_refseq": "FLB3342; PRO1313; TMEM161B", "protein_names_uniprotkb": "Transmembrane protein 161B", "protein_names_refseq": "transmembrane protein 161B isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:153396)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;12975309;19913121;20628086;24366607;25576301;25880248;25892735;26375851;26811146;26992070;27479909;27920218;28228285;28834231;28904123;29632046;29769354;30006604;31844290;32231262;32357974;32387766;32488085;33392160;33912179;36669109;39147160", "class_list": "", "function": "Essential for maintaining normal cardiac rhythm in the developing heart and for neonatal survival (By similarity). Inhibits potassium and calcium currents in the cardiomyocytes, this assists in timely action potential repolarization and thereby maintains normal cardiac rhythm (By similarity)., [UniProtKB, UniProtKB]; 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]; Role of rs454214 in Personality mediated Depression and Subjective Well-being. Publication Status: Online-Only, [RefSeq, PubMed]; Single nucleotide polymorphism in TMEM161B gene is associated with major depressive disorder., [RefSeq, PubMed]; TMEM161B modulates radial glial scaffolding in neocortical development., [RefSeq, PubMed]; The interaction between TMEM161B (rs768705) and paranoid personality traits in relation to the risk of major depressive disorder: Results form a longitudinal study of 7642 Chinese freshmen., [RefSeq, PubMed]; The previously identified major depressive disorder risk variant rs10514299 in TMEM161B-MEF2C predicts neuronal correlates of reward processing in an alcohol dependence phenotype, possibly explaining part of the shared pathophysiology and comorbidity between the disorders. Publication Status: Online-Only, [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": 10, "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": "Q5CZH7;Q6UWQ6", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002027 regulation of heart rate;GO:0098901 regulation of cardiac muscle cell action potential;GO:0015074 DNA integration", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q8NDZ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHN6-1", "uniprot_id": [ { "id": "CEIP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHN6", "type": "external" } ], "mass": 154374.0, "length": 1383, "protein_name": "Cell surface hyaluronidase CEMIP2", "gene_name": "CEMIP2", "organism": "Human", "refseq_name": "cell surface hyaluronidase CEMIP2 isoform b", "refseq_ac": [ { "id": "NP_001129292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129292", "type": "external" } ], "gene_names_uniprotkb": "CEMIP2; KIAA1412; TMEM2", "gene_names_refseq": "CEMIP2; TMEM2", "protein_names_uniprotkb": "Cell surface hyaluronidase CEMIP2; 3.2.1.35; Cell migration-inducing hyaluronidase 2; Transmembrane protein 2", "protein_names_refseq": "cell surface hyaluronidase CEMIP2 isoform b; cell surface hyaluronidase CEMIP2; cell surface hyaluronidase; transmembrane protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23670)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "10.1101/2023.09.13.557529;10767548;11237011;18669648;20068231;22610944;23090970;23481700;24190977;25576301;27253403;27328729;27600516;28514659;28904123;29242379;29393594;29557506;29632046;29632711;29741879;29786170;29789417;30833945;31020640;31844290;32157095;32161166;32265295;32350084;32488085;32938616;32983136;33043033;33091337;33537174;33592498;33912179;33968037;34019948;34078123;34171305;34725712;35051231;35154160;35251023;35494241;35580925;36010968;36215666;36241903;36284347;36395406;37074911;37196767;37527776;38378757;38665916", "class_list": "glycogene;glycosylhydrolase", "function": "Cell surface hyaluronidase that mediates the initial cleavage of extracellular high-molecular-weight hyaluronan into intermediate-size hyaluronan of approximately 10-5 kDa fragments (PubMed:37527776). Very specific to hyaluronan; not able to cleave chondroitin sulfate or dermatan sulfate. Has an essential function in systemic hyaluronan catabolism and turnover and regulates cell adhesion and migration via hyaluronan degradation at focal adhesion sites (By similarity). Acts as a regulator of angiogenesis and heart morphogenesis by mediating degradation of extracellular hyaluronan, thereby regulating VEGF signaling (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; Concurrent Overexpression of Two Hyaluronidases, KIAA1199 and TMEM2, Strongly Predicts Shorter Survival After Resection in Pancreatic Ductal Adenocarcinoma., [RefSeq, PubMed]; Expression and regulation of recently discovered hyaluronidases, HYBID and TMEM2, in chondrocytes from knee osteoarthritic cartilage. Publication Status: Online-Only, [RefSeq, PubMed]; HRD1-induced TMEM2 ubiquitination promotes ER stress-mediated apoptosis through a non-canonical pathway in intestinal ischemia/reperfusion. Publication Status: Online-Only, [RefSeq, PubMed]; Human TMEM2 is not a catalytic hyaluronidase, but a regulator of hyaluronan metabolism via HYBID (KIAA1199/CEMIP) and HAS2 expression., [RefSeq, PubMed]; Our findings lead us to propose that TMEM2 may not only mediate the pathologic effects of SOX4 on cancer progression but also potentially its contributions to embryonic development, [RefSeq, PubMed]; Results showed that missense mutations in transmembrane protein 2 p.Ser1254Asn, interferon alpha 2 p.Ala120Thr, its regulator NLR family member X1 p.Arg707Cys, and complement component 2 p.Glu318Asp were associated with chronic hepatitis B., [RefSeq, PubMed]; TMEM2 inhibits Hepatitis b virus infection in HepG2 and HepG2.2.15 by activating the JAK-STAT signaling pathway. Erratum:[Cell Death Dis. 2025 Jun 12;16(1):446. doi: 10.1038/s41419-025-07706-w. PMID: 40506427] Publication Status: Online-Only, [RefSeq, PubMed]; TMEM2 is a bona fide hyaluronidase possessing intrinsic catalytic activity., [RefSeq, PubMed]; This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 14, "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": 4, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1623, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 25, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A6H8W9;B2RTQ6;Q5T838;Q5T839;Q5T840;Q5T841;Q8NBP6;Q9P2D5", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0030246 carbohydrate binding;GO:0004415 hyalurononglucosaminidase activity;GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001525 angiogenesis;GO:1903670 regulation of sprouting angiogenesis;GO:0030214 hyaluronan catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9UHN6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.100.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HA77-1", "uniprot_id": [ { "id": "SYCM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HA77", "type": "external" } ], "mass": 62224.0, "length": 564, "protein_name": "Probable cysteine--tRNA ligase, mitochondrial", "gene_name": "CARS2", "organism": "Human", "refseq_name": "probable cysteine--tRNA ligase, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_078813", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078813", "type": "external" } ], "gene_names_uniprotkb": "CARS2; SW-cl.10", "gene_names_refseq": "CARS2; COXPD27; cysRS", "protein_names_uniprotkb": "Probable cysteine--tRNA ligase, mitochondrial; 6.1.1.16; CysRS; Cysteinyl-tRNA synthetase", "protein_names_refseq": "cysteine tRNA ligase 2, mitochondrial (putative); cysteinyl-tRNA synthetase 2, mitochondrial (putative); probable cysteine--tRNA ligase, mitochondrial isoform 1; probable cysteine--tRNA ligase, mitochondrial", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 27 (Disease Ontology:DOID:0111489)", "pathway": " (hsa:79587); (R-HSA-379726)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;20068231;23481700;25361775;25576301;25787132;26992070;28218747;28510447;28832583;28904123;29079736;29242379;29437277;30315122;30379171;30524438;31217245;31844290;31937595;32157095;32357974;32387766;32897882;32938616;32983136;33298915;33537174;33592498;33912179;33968037;34509645;35051231;36010968;36241641;7755634;8078941;9278442;9466989", "class_list": "", "function": "CARS2 is a novel disease gene associated with a severe progressive myoclonic epilepsy most resembling MERRF syndrome, [RefSeq, PubMed]; In addition to its role as an aminoacyl-tRNA synthetase, has also cysteine persulfide synthase activity. Produces reactive persulfide species such as cysteine persulfide (CysSSH) from substrate cysteine and mediate direct incorporation of CysSSH into proteins during translations, resulting in protein persulfides and polysulfides (PubMed:29079736). CysSSHs behave as potent antioxidants and cellular protectants (PubMed:29079736)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Mitochondrial cysteine-specific aminoacyl-tRNA synthetase that catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Mutations in CARS2 result in a mitochondrial translational defect as seen in individuals with mitochondrial epileptic encephalopathy., [RefSeq, PubMed]; This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 1, "reported_mutagensis": 4, "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": "Q8NI84;Q96IV4", "ec_number_list": [ { "id": "6.1.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.16", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004817 cysteine-tRNA ligase activity;GO:0016874 ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0006423 cysteinyl-tRNA aminoacylation;GO:0006418 tRNA aminoacylation for protein translation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q9HA77-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43345-1", "uniprot_id": [ { "id": "ZN208_HUMAN", "url": "https://www.uniprot.org/uniprot/O43345", "type": "external" } ], "mass": 147487.0, "length": 1280, "protein_name": "Zinc finger protein 208", "gene_name": "ZNF208", "organism": "Human", "refseq_name": "zinc finger protein 208 isoform 1", "refseq_ac": [ { "id": "NP_009084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009084", "type": "external" } ], "gene_names_uniprotkb": "ZNF208; ZNF91L", "gene_names_refseq": "PMIDP; ZNF208; ZNF95", "protein_names_uniprotkb": "Zinc finger protein 208; Zinc finger protein 91-like", "protein_names_refseq": "zinc finger protein 208 isoform 1; zinc finger protein 95", "tax_id": 9606, "disease": "", "pathway": " (hsa:7757); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;27907911;27936511;35051231;38253038;8183939;8769649;9637681;9653119;9724325", "class_list": "", "function": "Data indicate that variants in ZNF208 are contribute to the susceptibility to esophageal cancer in a Chinese Han population., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Three variants were associated with the risk of ischemic stroke under allele models (rs2188971, rs2188972, rs8103163 and rs7248488). The variant rs2188972 was also associated with the risk of ischemic stroke in a recessive model after adjustment for age and sex, [RefSeq, PubMed]; Zinc finger proteins (ZNFs), such as ZNF208, bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. A conserved protein motif, termed the Kruppel-associated box (KRAB) domain, mediates protein-protein interactions (Eichler et al., 1998 [PubMed 9724325]). See ZNF91 (MIM 603971) for further information on ZNFs.[supplied by OMIM, Aug 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": 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": 90, "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:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O43345-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LW2-1", "uniprot_id": [ { "id": "KS6R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LW2", "type": "external" } ], "mass": 46223.0, "length": 410, "protein_name": "Ribosomal protein S6 kinase-related protein", "gene_name": "RSKR", "organism": "Human", "refseq_name": "ribosomal protein S6 kinase-related protein", "refseq_ac": [ { "id": "NP_001167574", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167574", "type": "external" } ], "gene_names_uniprotkb": "RSKR; SGK494", "gene_names_refseq": "RSKR; SGK494", "protein_names_uniprotkb": "Ribosomal protein S6 kinase-related protein; 2.7.11.1; Sugen kinase 494", "protein_names_refseq": "ribosomal protein S6 kinase-related protein; sugen kinase 494", "tax_id": 9606, "disease": "", "pathway": " (hsa:124923)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;12471243;32488085;33392160;34932366", "class_list": "", "function": "Discovered as a novel human kinase, classified within the AGC group and a novel RSKR (RSK-related) family. 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A5H1ZRP1;B4DFP4;L7N484;Q49A48", "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:0106310 protein serine kinase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q96LW2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56192-1", "uniprot_id": [ { "id": "SYMC_HUMAN", "url": "https://www.uniprot.org/uniprot/P56192", "type": "external" } ], "mass": 101116.0, "length": 900, "protein_name": "Methionine--tRNA ligase, cytoplasmic", "gene_name": "MARS1", "organism": "Human", "refseq_name": "methionine--tRNA ligase, cytoplasmic", "refseq_ac": [ { "id": "NP_004981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004981", "type": "external" } ], "gene_names_uniprotkb": "MARS1; MARS", "gene_names_refseq": "CMT2U; ILFS2; ILLD; MARS1; MARS; METRS; MRS; MTRNS; SPG70; TTD9", "protein_names_uniprotkb": "Methionine--tRNA ligase, cytoplasmic; 6.1.1.10; MetRS; Methionyl-tRNA synthetase", "protein_names_refseq": "cytosolic methionyl-tRNA synthetase; methionine--tRNA ligase, cytoplasmic", "tax_id": 9606, "disease": "nonphotosensitive trichothiodystrophy 9 (Disease Ontology:DOID:0061024); hereditary spastic paraplegia 70 (Disease Ontology:DOID:0070454); Charcot-Marie-Tooth disease axonal type 2U (Disease Ontology:DOID:0110173); pulmonary alveolar proteinosis (Disease Ontology:DOID:12120); severe early-onset pulmonary alveolar proteinosis due to MARS deficiency (MONDO:MONDO:0014206)", "pathway": " (hsa:4141); (R-HSA-2408522); (R-HSA-379716); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 207, "publication_id_list": "10567402;10611221;10655586;10673502;10791971;11027551;11237011;11347887;11466336;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12690580;1373391;14654843;14660560;14671330;14975237;15118077;15226305;15507434;16014379;16034366;16055448;16429158;16661668;16661782;16822840;16906134;1698554;1748288;1761529;17623675;18446792;18644867;18669648;18691976;19131329;19289464;19413330;19524539;19608861;19651622;20068231;20460180;21486943;21965087;22106287;22647378;22869377;23159739;23190890;23207919;23481700;23729695;23783831;24103465;24354524;24366607;24482476;24714562;24715725;25097229;25248477;25418920;25576301;25595898;25645385;25802875;25880248;25892735;25913036;26154972;26375851;26472928;26811146;26853435;26992070;27128622;27397612;27600516;27846572;27920218;28063628;28218747;28228285;28394346;28446606;28514659;28649982;28832583;28834231;28904123;29242379;29295999;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30397120;30410026;30484775;30524438;30804224;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32636443;32897882;32938616;32983136;33091337;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33744299;33909043;33912179;33936100;33968037;33981976;34019948;34086935;34087483;34140478;34171305;34185709;34211107;34357683;34405274;34496286;34509645;34561969;34585293;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35494241;35580925;36010968;36215666;36241641;36284347;36581221;37217939;37770430;37938771;38253038;38665916;40596516;40914422;4130389;5338216;6022858;656444;7118399;7654687;7958932;8052601;8078941;8188258;8336698;8428657;8449960;8921912;9199364;9278442;9353119;9421509;9431993;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Catalyzes the specific attachment of L-methionine to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA (PubMed:11714285, PubMed:33909043). Plays a role in the synthesis of ribosomal RNA in the nucleolus (PubMed:10791971). In addition, can prevent the misincorporation of homocysteine into tRNA and protein by catalyzing a tRNA-independent hydrolysis of the misactivated homocysteinyl-AMP intermediate. The homocysteinyl-AMP intermediate undergoes an intramolecular cyclization reaction in which the thiolate side chain of homocysteine displaces the AMP group, forming homocysteine-thiolactone and AMP (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature. Review article, [RefSeq, PubMed]; Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy., [RefSeq, PubMed]; Structural basis for the dynamics of human methionyl-tRNA synthetase in multi-tRNA synthetase complexes., [RefSeq, PubMed]; This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KVK7;Q14895;Q53H14;Q96A15;Q96BZ0;Q9NSE0", "ec_number_list": [ { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.1.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.12", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "6.1.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.18", "type": "external" }, { "id": "6.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.19", "type": "external" }, { "id": "6.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.10", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "6.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.6", "type": "external" }, { "id": "6.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0000049 tRNA binding;GO:0004825 methionine-tRNA ligase activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006418 tRNA aminoacylation for protein translation;GO:0009303 rRNA transcription;GO:0071364 cellular response to epidermal growth factor stimulus;GO:0036120 cellular response to platelet-derived growth factor stimulus;GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I", "synthesized_glycan_count": 0, "hit_score": 21.0, "record_id": "P56192-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57088-1", "uniprot_id": [ { "id": "TMM33_HUMAN", "url": "https://www.uniprot.org/uniprot/P57088", "type": "external" } ], "mass": 27978.0, "length": 247, "protein_name": "Transmembrane protein 33", "gene_name": "TMEM33", "organism": "Human", "refseq_name": "transmembrane protein 33", "refseq_ac": [ { "id": "NP_060596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060596", "type": "external" } ], "gene_names_uniprotkb": "TMEM33; DB83", "gene_names_refseq": "1600019D15Rik; Pom33; SHINC-3; SHINC3; TMEM33", "protein_names_uniprotkb": "Transmembrane protein 33; Protein DB83; SHINC-3", "protein_names_refseq": "transmembrane protein 33", "tax_id": 9606, "disease": "", "pathway": " (hsa:55161)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11237011;17081065;22223895;23481700;25418920;25576301;25612671;26154972;26268696;26811146;26992070;27862975;27920218;28063628;28218747;28228285;28446606;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;29632711;29769354;29789417;30315122;30410026;30429286;30524438;30760708;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32614325;32897882;32938616;32983136;33123756;33214551;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34357683;34405274;34487377;34509645;34725712;34932366;35051231;35083852;35318648;35580925;36010968;36241641;36284347;37938771;38665916", "class_list": "", "function": "Acts as a regulator of the tubular endoplasmic reticulum (ER) network by modulating intracellular calcium homeostasis. Mechanistically, stimulates PKD2 calcium-dependent activity (By similarity). Suppresses the RTN3/4-induced formation of the ER tubules (PubMed:25612671). Positively regulates PERK-mediated and IRE1-mediated unfolded protein response signaling (PubMed:26268696). Plays an essential role in VEGF-mediated release of Ca(2+) from ER stores during angiogenesis (PubMed:30760708). Also plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). Participates in lipid metabolism by acting as a downstream effector of the pyruvate kinase/PKM. Forms a complex with RNF5 to facilitate polyubiquitination and subsequent degradation of SCAP on the ER membrane (PubMed:34487377)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; PKM2-TMEM33 axis regulates lipid homeostasis in cancer cells by controlling SCAP stability., [RefSeq, PubMed]; TMEM33 is a novel regulator of the PERK-eIE2alpha-ATF4 and IRE1-XBP1 axes of the UPR 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": 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": "B3KSS8;Q9H953", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0042470 melanosome;GO:0016020 membrane", "go_biological_process": "GO:0071786 endoplasmic reticulum tubular network organization;GO:0045087 innate immune response;GO:0061024 membrane organization;GO:1903896 positive regulation of IRE1-mediated unfolded protein response;GO:1903899 positive regulation of PERK-mediated unfolded protein response", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P57088-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2RTX5-1", "uniprot_id": [ { "id": "SYTC2_HUMAN", "url": "https://www.uniprot.org/uniprot/A2RTX5", "type": "external" } ], "mass": 92646.0, "length": 802, "protein_name": "Threonine--tRNA ligase 2, cytoplasmic", "gene_name": "TARS3", "organism": "Human", "refseq_name": "threonine--tRNA ligase 2, cytoplasmic", "refseq_ac": [ { "id": "NP_689547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689547", "type": "external" } ], "gene_names_uniprotkb": "TARS3; TARSL2", "gene_names_refseq": "TARS3; TARSL2; ThrRS-L", "protein_names_uniprotkb": "Threonine--tRNA ligase 2, cytoplasmic; 6.1.1.3; ThrRS; Threonyl-tRNA synthetase protein 3; Threonyl-tRNA synthetase", "protein_names_refseq": "probable threonine--tRNA ligase 2, cytoplasmic; probable threonyl-tRNA synthetase 2, cytoplasmic; thrRS; threonine--tRNA ligase 2, cytoplasmic; threonyl-tRNA synthetase like 2; threonyl-tRNA synthetase protein 3; threonyl-tRNA synthetase-like protein 2", "tax_id": 9606, "disease": "nonphotosensitive trichothiodystrophy (Disease Ontology:DOID:0111867); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:123283)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;23186163;23481700;24312579;25418920;25880248;26154972;26375851;26811146;27600516;27846572;27862975;28228285;28411811;28514659;28832583;28834231;29242379;29493099;29508533;29557506;29632711;29769354;30315122;31287872;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34024034;34932366;35051231;35318648;35580925;36241641;36284347", "class_list": "", "function": "Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post-transfer stage., [UniProtKB, UniProtKB]; MiR-720 is a key regulator of glioma migration and invasion by controlling TARSL2 expression., [RefSeq, PubMed]; Newly acquired N-terminal extension targets threonyl-tRNA synthetase-like protein into the multiple tRNA synthetase complex., [RefSeq, PubMed]; TARSL2 is potentially a new component of aminoacyl-tRNA synthetase core-complex 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": 6, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RMP7;Q6B0A1;Q6IS76;Q96LW3;Q96MP4", "ec_number_list": [ { "id": "6.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.3", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004829 threonine-tRNA ligase activity;GO:0004812 aminoacyl-tRNA ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006435 threonyl-tRNA aminoacylation;GO:0006412 translation;GO:0043039 tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "A2RTX5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P12081-1", "uniprot_id": [ { "id": "HARS1_HUMAN", "url": "https://www.uniprot.org/uniprot/P12081", "type": "external" } ], "mass": 57411.0, "length": 509, "protein_name": "Histidine--tRNA ligase, cytoplasmic", "gene_name": "HARS1", "organism": "Human", "refseq_name": "histidine--tRNA ligase, cytoplasmic isoform 2", "refseq_ac": [ { "id": "NP_001244969", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244969", "type": "external" } ], "gene_names_uniprotkb": "HARS1; HARS; HRS", "gene_names_refseq": "CMT2W; HARS1; HARS; HRS; USH3B", "protein_names_uniprotkb": "Histidine--tRNA ligase, cytoplasmic; 6.1.1.21; HisRS; Histidyl-tRNA synthetase", "protein_names_refseq": "HisRS; Jo-1 antigen; histidine translase; histidine--tRNA ligase, cytoplasmic isoform 2; histidine--tRNA ligase, cytoplasmic", "tax_id": 9606, "disease": "Perrault syndrome (Disease Ontology:DOID:0050857); 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:3035); (R-HSA-379716)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "11237011;11347887;11714285;11829477;11858721;12690580;1373391;14660560;14671330;1549469;16055448;16429158;16906134;1761529;20068231;22279524;22645359;22930593;23301498;24275569;24397554;25151410;25469497;26072516;26811146;26992070;27846572;28632987;28904123;29235198;29242379;29314611;29493099;29557506;30315122;30484775;30573663;30779550;31020640;31530632;31797905;31844290;31982271;32119511;32157095;32161166;32333447;32357974;32387766;32488085;32502341;32870666;32938616;32983136;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34229054;34357683;34509645;34725712;35051231;35154160;35251023;3554142;35580925;36010968;36215666;36241641;37938771;38665916;40914422;4130389;6022858;656444;7118399;7654687;7755634;8052601;8078941;8188258;8406012;8428657;8449960;9278442;9421509;9431993", "class_list": "", "function": "Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a cytoplasmic enzyme which belongs to the class II family of aminoacyl-tRNA synthetases. The enzyme is responsible for the synthesis of histidyl-transfer RNA, which is essential for the incorporation of histidine into proteins. The gene is located in a head-to-head orientation with HARSL on chromosome five, where the homologous genes share a bidirectional promoter. The gene product is a frequent target of autoantibodies in the human autoimmune disease polymyositis/dermatomyositis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]., [RefSeq]; Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome., [RefSeq, PubMed]; 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) (PubMed:29235198). Plays a role in axon guidance (PubMed:26072516)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Despite the similar kinetics, differential scanning fluorimetry revealed that Y454S is less thermally stable than Wild Type HARS, and cells from Y454S patients grown at elevated temperatures demonstrate diminished levels of protein synthesis compared to those of Wild Type cells. The thermal sensitivity associated with the Y454S mutation represents a biochemical basis for understanding Usher Syndrome Type IIIB., [RefSeq, PubMed]; Serological risk factors for concomitant interstitial lung disease in patients with idiopathic inflammatory myopathy., [RefSeq, PubMed]; Serum-circulating His-tRNA synthetase inhibits organ-targeted immune responses., [RefSeq, PubMed]; The first biochemical analysis of Charcot-Marie-Tooth-associated HARS mutations and underscores how loss of the primary aminoacylation function can contribute to disease pathology., [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": 7, "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": "B4DHQ1;B4DY73;D6REN6;J3KNE5", "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:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0004821 histidine-tRNA ligase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006418 tRNA aminoacylation for protein translation;GO:0006412 translation;GO:0006427 histidyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P12081-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96J01-1", "uniprot_id": [ { "id": "THOC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96J01", "type": "external" } ], "mass": 38772.0, "length": 351, "protein_name": "THO complex subunit 3", "gene_name": "THOC3", "organism": "Human", "refseq_name": "THO complex subunit 3 isoform 1", "refseq_ac": [ { "id": "NP_115737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115737", "type": "external" } ], "gene_names_uniprotkb": "THOC3", "gene_names_refseq": "THO3; THOC3; hTREX45", "protein_names_uniprotkb": "THO complex subunit 3; TEX1 homolog; Tho3; hTREX45", "protein_names_refseq": "TEX1 homolog; THO complex 3; THO complex subunit 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:84321); (R-HSA-159236); (R-HSA-72187)", "pathway_count": 3, "publication_count": 99, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11237011;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12093754;12871933;15833825;15998806;16314397;17000901;17190602;17984224;18364396;18411249;18423201;18957205;18974867;19836239;20129943;20573985;20844015;21947206;22207203;22223895;22645359;22893130;22928037;23222130;23299939;23481700;23826332;24244187;24397554;25418920;25576301;25662211;25836925;26024233;26154972;26811146;26992070;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29120066;29242379;29393594;29437277;29493099;29508533;29632046;30315122;30410026;30620550;30779550;31217245;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;33191911;33298915;33537174;33633747;33912179;33936100;33968037;34019948;34087483;34171305;34185709;34229054;34357683;35051231;35251023;35580925;36241641;37020021;37500615;40596516;9618489;9660949", "class_list": "", "function": "(Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production., [UniProtKB, PubMed]; Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). Required for efficient export of polyadenylated RNA and spliced mRNA (PubMed:23222130). The THOC1-THOC2-THOC3 core complex alone is sufficient to bind export factor NXF1-NXT1 and promote ATPase activity of DDX39B (PubMed:33191911). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway (PubMed:15833825, PubMed:15998806, PubMed:17190602)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Recruitment of the human TREX complex to spliced mRNA is not directly coupled to transcription, but is instead coupled to transcription indirectly through splicing, [RefSeq, PubMed]; THOC3 interacts with YBX1 to promote lung squamous cell carcinoma progression through PFKFB4 mRNA modification. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [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": 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": "Q6NZ53", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000445 THO complex part of transcription export complex;GO:0000346 transcription export complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q96J01-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T7P8-1", "uniprot_id": [ { "id": "SYT6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T7P8", "type": "external" } ], "mass": 57325.0, "length": 510, "protein_name": "Synaptotagmin-6", "gene_name": "SYT6", "organism": "Human", "refseq_name": "synaptotagmin-6 isoform b", "refseq_ac": [ { "id": "NP_001257734", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257734", "type": "external" } ], "gene_names_uniprotkb": "SYT6", "gene_names_refseq": "SYT6; sytVI", "protein_names_uniprotkb": "Synaptotagmin-6; Synaptotagmin VI; SytVI", "protein_names_refseq": "synaptotagmin VI; synaptotagmin-6 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:148281)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16111671;18639284;21406692;29393594;29769354;32350084;33936100;35051231;35251023;39894887", "class_list": "", "function": "Acrosomal exocytosis is regulated through the PKC-mediated phosphorylation of conserved threonines in the polybasic regions of synaptotagmin VI., [RefSeq, PubMed]; May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. May mediate Ca(2+)-regulation of exocytosis in acrosomal reaction in sperm (By similarity)., [UniProtKB, UniProtKB]; SYT6 is hypermethylated in renal cell carcinoma., [RefSeq, PubMed]; The protein encoded by this gene belongs to the synaptotagmin family. Synaptotagmins share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of 2 C2 domains, and are involved in calcium-dependent exocytosis of synaptic vesicles. This protein has been shown to be a key component of the secretory machinery involved in acrosomal exocytosis. Alternatively spliced transcript variants have been found for this gene. [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": 4, "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": "B1AMB8;B3KPK1", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0019905 syntaxin binding;GO:0030276 clathrin binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0097038 perinuclear endoplasmic reticulum;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0016192 vesicle-mediated transport;GO:0017158 regulation of calcium ion-dependent exocytosis;GO:0060478 acrosomal vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5T7P8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y296-1", "uniprot_id": [ { "id": "TPPC4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y296", "type": "external" } ], "mass": 24340.0, "length": 219, "protein_name": "Trafficking protein particle complex subunit 4", "gene_name": "TRAPPC4", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 4 isoform 2", "refseq_ac": [ { "id": "NP_001305415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305415", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC4; CGI-104; HSPC172; PTD009; SBDN", "gene_names_refseq": "CGI-104; HSPC172; NEDESBA; PTD009; SBDN; SYNBINDIN; TRAPPC4; TRS23", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 4; Hematopoietic stem/progenitor cell protein 172; Synbindin; TRS23 homolog", "protein_names_refseq": "TRS23 homolog; hematopoietic stem/progenitor cell protein 172; trafficking protein particle complex 4; trafficking protein particle complex subunit 4 isoform 2", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MONDO:MONDO:0032894)", "pathway": " (hsa:51399); (R-HSA-204005); (R-HSA-3000170); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 322, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10818110;10825291;10903204;10982397;10990452;11035026;11038176;11179213;11237011;11285137;11306556;11516400;11689439;11703925;11746448;11784320;11805826;11917121;11927603;12058051;12070132;12221131;12235121;12244319;12364329;12427552;12475894;12684051;12944476;12972505;12975610;14681059;14976204;15037235;15096524;15138286;1516130;15247254;15388334;15479743;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16303754;16373702;16410077;16495487;16525024;16525121;16571673;16624868;16641372;16754960;16880209;16912714;16945929;16950109;17005010;17038314;17043139;17132146;17189207;17192411;17208202;17239822;17287728;17314405;17316621;17488286;17562788;17574030;17646400;17671165;17678623;17684057;18076383;18094055;18354496;18367545;1845915;18466758;18477474;18559336;18585354;18664496;18701652;18779367;18804435;18843296;1900457;19109890;19164740;19345684;19403694;19416478;19490898;19620288;19638414;19656848;19725050;19729655;19745841;20008558;20035503;20068231;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20545907;20592283;20679433;20797862;20851765;20937701;20966969;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21478858;21525244;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22157747;22171327;22365832;22424782;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22675024;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23479643;23645161;23678941;23684622;23698585;23713133;23839779;23864707;24119662;24296415;24397554;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25202031;25341920;25343031;25406594;25418920;25472813;25492864;25576301;25586378;25619252;25645385;25648148;25713415;25880248;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;2963012;29632711;29786170;29789417;30315122;30410026;30429286;30561033;30779550;30833945;31092671;31154438;31222486;31530632;31794024;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32488085;32502341;32897882;32901138;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34518538;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37938771;7688123;7911226;8144603;8221884;8408203;8522602;8609172;8620540;8663406;8863739;9020086;9020161;9030515;9094723;9115237;9136770;9150144;9177194;9307973;9323142;9590177;9647643;9733780", "class_list": "", "function": "A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome., [RefSeq, PubMed]; Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May play a role in dendrite postsynaptic membrane trafficking (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability. Erratum:[Brain. 2020 Mar 1;143(3):e24. doi: 10.1093/brain/awaa007. PMID: 32333675], [RefSeq, PubMed]; Findings identify a critical role of Synbindin in gut microbiome composition and Wnt signaling activation in colorectal carcinogenesis, and highlight Synbindin as an adaptor protein with multifaceted roles., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TRAPPC4 regulates the intracellular trafficking of PD-L1 and antitumor immunity. Publication Status: Online-Only, [RefSeq, PubMed]; The three-dimensional structure of human synbindin, which contains a longin domain and an atypical PDZ domain is presented., [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": 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": "A8K3A5;B4DME1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0030425 dendrite", "go_biological_process": "GO:0016358 dendrite development;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006914 autophagy;GO:0048208 COPII vesicle coating;GO:0006901 vesicle coating", "synthesized_glycan_count": 0, "hit_score": 32.3, "record_id": "Q9Y296-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q03519-1", "uniprot_id": [ { "id": "TAP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q03519", "type": "external" } ], "mass": 75664.0, "length": 686, "protein_name": "Antigen peptide transporter 2", "gene_name": "TAP2", "organism": "Human", "refseq_name": "antigen peptide transporter 2 isoform 1", "refseq_ac": [ { "id": "NP_000535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000535", "type": "external" } ], "gene_names_uniprotkb": "TAP2; ABCB3; PSF2; RING11; Y1", "gene_names_refseq": "ABC18; ABCB3; APT2; D6S217E; MHC1D2; PSF-2; PSF2; RING11; TAP2", "protein_names_uniprotkb": "Antigen peptide transporter 2; 7.4.2.14; APT2; ATP-binding cassette sub-family B member 3; PSF-2; Peptide supply factor 2; Peptide transporter PSF2; Peptide transporter TAP2; Peptide transporter involved in antigen processing 2; RING11; Really interesting new gene 11 protein", "protein_names_refseq": "ABC transporter, MHC 2; ATP-binding cassette, sub-family B (MDR/TAP), member 3; antigen peptide transporter 2 isoform 1; antigen peptide transporter 2; peptide supply factor 2; peptide transporter PSF2; peptide transporter involved in antigen processing 2; really interesting new gene 11 protein; transporter 2, ABC (ATP binding cassette); transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)", "tax_id": 9606, "disease": "lymphoproliferative syndrome (Disease Ontology:DOID:0060704); aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); tuberculoid leprosy (Disease Ontology:DOID:1025); Alzheimer's disease (Disease Ontology:DOID:10652); dengue hemorrhagic fever (Disease Ontology:DOID:12206); limited scleroderma (Disease Ontology:DOID:1577); diffuse scleroderma (Disease Ontology:DOID:1580); multiple sclerosis (Disease Ontology:DOID:2377); cervix carcinoma (Disease Ontology:DOID:2893); pulmonary tuberculosis (Disease Ontology:DOID:2957); allergic contact dermatitis (Disease Ontology:DOID:3042); esophagus squamous cell carcinoma (Disease Ontology:DOID:3748); cervical cancer (Disease Ontology:DOID:4362); reactive arthritis (Disease Ontology:DOID:6196); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); psoriasis (Disease Ontology:DOID:8893); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 1 diabetes mellitus (Disease Ontology:DOID:9744); MHC class I deficiency 2 (MONDO:MONDO:0971011)", "pathway": " (hsa:6891); (R-HSA-1236974); (R-HSA-983170)", "pathway_count": 3, "publication_count": 155, "publication_id_list": "10064069;10227971;10600378;10605026;10777614;10825291;10982397;11157746;11160214;11163199;11237011;11274390;11294565;11514579;12436109;12436110;12645939;1453454;14681859;14718384;15286279;1538751;1570316;1589036;15927284;16465444;16473882;17056546;17088086;17316621;1741401;17656363;18669648;18692471;19119025;19193869;19201886;19217269;19261456;19342655;19361863;19426129;1946428;19575639;19851281;2038058;20605430;21050182;22153078;22424782;22638925;23481700;23613522;2450918;25083866;25377891;25418920;25576301;25645385;25656091;26154972;26611325;26811146;26992070;27397612;27452731;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28510447;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30429286;30524438;30833945;31154438;31530632;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34211107;34357683;34405274;34509645;34561969;35051231;35154160;35318648;35485366;35561310;35580925;36010968;36227411;36241641;37217939;37523193;37938771;7500034;7517574;7642652;7760936;7792761;7876241;8162639;8342042;8428770;8568858;8630735;8670825;8805302;8955196;9175839;9256420;9324024;9427624;9605141;9672156;9916708", "class_list": "", "function": "ABC transporter associated with antigen processing. In complex with TAP1 mediates unidirectional translocation of peptide antigens from cytosol to endoplasmic reticulum (ER) for loading onto MHC class I (MHCI) molecules (PubMed:25377891, PubMed:25656091). Uses the chemical energy of ATP to export peptides against the concentration gradient (PubMed:25377891). During the transport cycle alternates between 'inward-facing' state with peptide binding site facing the cytosol to 'outward-facing' state with peptide binding site facing the ER lumen. Peptide antigen binding to ATP-loaded TAP1-TAP2 induces a switch to hydrolysis-competent 'outward-facing' conformation ready for peptide loading onto nascent MHCI molecules. Subsequently ATP hydrolysis resets the transporter to the 'inward facing' state for a new cycle (PubMed:11274390, PubMed:25377891, PubMed:25656091). Typically transports intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via IFNG-induced immunoproteasome. Binds peptides with free N- and C-termini, the first three and the C-terminal residues being critical. Preferentially selects peptides having a highly hydrophobic residue at position 3 and hydrophobic or charged residues at the C-terminal anchor. Proline at position 2 has the most destabilizing effect (PubMed:11274390, PubMed:7500034, PubMed:9256420). As a component of the peptide loading complex (PLC), acts as a molecular scaffold essential for peptide-MHCI assembly and antigen presentation (PubMed:1538751, PubMed:25377891, PubMed:26611325)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Association study of TAP and HLA-I gene combination with chronic hepatitis C virus infection in a Han population in China., [RefSeq, PubMed]; Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency., [RefSeq, PubMed]; Regulatory Variants on the Leukocyte Immunoglobulin-Like Receptor Gene Cluster are Associated with Crohn's Disease and Interact with Regulatory Variants for TAP2., [RefSeq, PubMed]; The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 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": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0V2J8;O95410;Q53FI6;Q5HY71;Q96PT8;Q9UQ83", "ec_number_list": [ { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "7.4.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:7.4.2.14", "type": "external" } ], "go_molecular_function": "GO:0046978 TAP1 binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0042605 peptide antigen binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030670 phagocytic vesicle membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0006952 defense response;GO:0015031 protein transport;GO:0055085 transmembrane transport;GO:0002250 adaptive immune response;GO:0015833 peptide transport", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q03519-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q562E7-1", "uniprot_id": [ { "id": "WDR81_HUMAN", "url": "https://www.uniprot.org/uniprot/Q562E7", "type": "external" } ], "mass": 211697.0, "length": 1941, "protein_name": "WD repeat-containing protein 81", "gene_name": "WDR81", "organism": "Human", "refseq_name": "WD repeat-containing protein 81 isoform 3", "refseq_ac": [ { "id": "NP_001157145", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157145", "type": "external" } ], "gene_names_uniprotkb": "WDR81", "gene_names_refseq": "CAMRQ2; CHMRQ; HYC3; PPP1R166; SORF-2; WDR81", "protein_names_uniprotkb": "WD repeat-containing protein 81", "protein_names_refseq": "WD repeat-containing protein 81 isoform 3; WD repeat-containing protein 81; protein phosphatase 1, regulatory subunit 166", "tax_id": 9606, "disease": "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 (Disease Ontology:DOID:0070557); congenital hydrocephalus 3 (Disease Ontology:DOID:0070684); microcephaly (Disease Ontology:DOID:10907); hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:124997); (R-HSA-9013148)", "pathway_count": 2, "publication_count": 262, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;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;15850391;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18786931;18835169;18838382;18929667;19605563;19934221;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21885617;21989057;22004470;22096251;22298643;22424782;22461490;22571869;22608513;22686558;22970203;23200924;23255595;23406282;23434736;23481700;23572525;23718289;24086303;24259668;24335996;24352656;24584464;24714562;24933155;24996924;25024229;25211221;25576301;25645385;25704760;25721503;25795300;25862245;25880248;25892735;25963737;26129894;26154972;26299518;26375851;26437881;26529257;26598554;26783301;26811146;26887924;26992070;27096001;27126989;27145964;27216196;27481945;27555588;27600516;27798618;27862975;28028151;28196833;28228285;28404643;28556411;28825699;28832583;28860633;28969387;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30061681;30315122;30429286;30853411;31154438;31844290;31848261;31871319;32157095;32161166;32203420;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33592498;33691108;33912179;33954857;33968037;33981976;34087483;34171305;34185709;34211107;34338917;34357683;34405274;34509645;35051231;35580925;36010968;36215666;36241641;36284347;37938771;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": "Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations., [RefSeq, PubMed]; Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May also play a role in aggrephagy, the macroautophagic degradation of ubiquitinated protein aggregates. In this process, may regulate the interaction of SQSTM1 with ubiquitinated proteins and also recruit MAP1LC3C (PubMed:28404643). May also be involved in maintenance of normal mitochondrial structure and organization (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus., [RefSeq, PubMed]; The WDR81 interacts with LC3C through canonical LC3-interacting regions in the BEACH domain, promoting LC3C recruitment to ubiquitinated proteins., [RefSeq, PubMed]; The neuro-ophthalmic examination in CAMRQ2 revealed downbeat nystagmus in all patients, and temporal disc pallor and macular atrophy in two patients., [RefSeq, PubMed]; The results of this study suggest that the WDR81 might have a role in mitosis that is conserved between Drosophila and humans., [RefSeq, PubMed]; This gene encodes a multi-domain transmembrane protein which is predominantly expressed in the brain and is thought to play a role in endolysosomal trafficking. Mutations in this gene are associated with an autosomal recessive form of a syndrome exhibiting cerebellar ataxia, cognitive disability, and disequilibrium (CAMRQ2). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]., [RefSeq]; WDR81 Gene Silencing Can Reduce Exosome Levels in Human U87-MG Glioblastoma Cells., [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": 5, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KW16;B3KXU1;B7Z579;E9PHG7;Q24JP6;Q8N277;Q8N3F3;Q8TEL1", "ec_number_list": [], "go_molecular_function": "GO:0070530 K63-linked polyubiquitin modification-dependent protein binding;GO:0035014 phosphatidylinositol 3-kinase regulator activity;GO:0141039 phosphatidylinositol 3-kinase inhibitor activity", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane", "go_biological_process": "GO:0050821 protein stabilization;GO:0045022 early endosome to late endosome transport;GO:0007005 mitochondrion organization;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0035973 aggrephagy", "synthesized_glycan_count": 0, "hit_score": 26.3, "record_id": "Q562E7-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSA9-1", "uniprot_id": [ { "id": "TM175_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSA9", "type": "external" } ], "mass": 55615.0, "length": 504, "protein_name": "Endosomal/lysosomal proton channel TMEM175", "gene_name": "TMEM175", "organism": "Human", "refseq_name": "endosomal/lysosomal proton channel TMEM175 isoform 3", "refseq_ac": [ { "id": "NP_001284355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284355", "type": "external" } ], "gene_names_uniprotkb": "TMEM175", "gene_names_refseq": "TMEM175; hTMEM175", "protein_names_uniprotkb": "Endosomal/lysosomal proton channel TMEM175; Potassium channel TMEM175; Transmembrane protein 175; hTMEM175", "protein_names_refseq": "endosomal/lysomomal potassium channel TMEM175; endosomal/lysosomal potassium channel TMEM175; endosomal/lysosomal proton channel TMEM175 isoform 3; endosomal/lysosomal proton channel TMEM175", "tax_id": 9606, "disease": "late onset Parkinson's disease (Disease Ontology:DOID:0060892); Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:84286)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;18691976;22544926;23481700;24715725;25418920;25645385;25892735;26317472;26375851;26929215;26992070;27862975;28193887;28218747;28228285;28723891;28832583;28904123;29557506;29632711;29769354;29786170;30315122;31092671;31261387;31658403;31844290;32228865;32267231;32357974;32387766;32502341;32897882;32938616;33141586;33392160;33505021;33537174;33717175;33968037;34087483;34185709;34405274;34509645;35051231;35333573;35608336;35750034;36010968;37390818;37938771", "class_list": "", "function": "A growth-factor-activated lysosomal K(+) channel regulates Parkinson's pathology. Erratum:[Nature. 2021 Apr;592(7855):E10. doi: 10.1038/s41586-021-03438-x. PMID: 33790472], [RefSeq, PubMed]; Gating and selectivity mechanisms for the lysosomal K(+) channel TMEM175. Publication Status: Online-Only, [RefSeq, PubMed]; Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition of the TMEM175 channel., [RefSeq, PubMed]; Proton-activated proton channel that catalyzes proton efflux from endosomes and lysosomes to maintain a steady-state pH (PubMed:35333573, PubMed:35750034, PubMed:37390818). Activated at low pH (under pH 4.6) by luminal side protons: selectively mediates lysosomal proton release from lysosomes, eliciting a proton leak that balances V-ATPase activity to maintain pH homeostasis (PubMed:35750034). Regulation of lumenal pH stability is required for autophagosome-lysosome fusion (PubMed:26317472, PubMed:32267231). Also acts as a potassium channel at higher pH, regulating potassium conductance in endosomes and lysosomes (PubMed:26317472, PubMed:28723891, PubMed:32228865, PubMed:32267231, PubMed:33505021). Constitutes the pore-forming subunit of the lysoK(GF) complex, a complex activated by extracellular growth factors (PubMed:33505021). The lysoK(GF) complex is composed of TMEM175 and AKT (AKT1, AKT2 or AKT3), a major target of growth factor receptors: in the complex, TMEM175 channel is opened by conformational changes by AKT, leading to its activation (PubMed:33505021). The lysoK(GF) complex is required to protect neurons against stress-induced damage (PubMed:33505021)., [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 43, "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": "D3DVN4;Q8ND13", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0022841 potassium ion leak channel activity;GO:0005267 potassium channel activity;GO:0050544 arachidonate binding;GO:0015252 proton channel activity", "go_cellular_component": "GO:0005768 endosome;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0010008 endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0070050 neuron cellular homeostasis;GO:0035752 lysosomal lumen pH elevation;GO:0090385 phagosome-lysosome fusion;GO:0071805 potassium ion transmembrane transport;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9BSA9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P5X7-1", "uniprot_id": [ { "id": "TMM71_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P5X7", "type": "external" } ], "mass": 32983.0, "length": 295, "protein_name": "Transmembrane protein 71", "gene_name": "TMEM71", "organism": "Human", "refseq_name": "transmembrane protein 71 isoform 2", "refseq_ac": [ { "id": "NP_001138625", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138625", "type": "external" } ], "gene_names_uniprotkb": "TMEM71", "gene_names_refseq": "TMEM71", "protein_names_uniprotkb": "Transmembrane protein 71", "protein_names_refseq": "transmembrane protein 71 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:137835)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;28832583;29242379;31180187;32357974;33123756;33968037;35051231;35561310", "class_list": "", "function": "Molecular and clinical characterization of TMEM71 expression at the transcriptional level 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q3KRC2;Q8WVZ4;Q96LX9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q6P5X7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW92-1", "uniprot_id": [ { "id": "SYTM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW92", "type": "external" } ], "mass": 81036.0, "length": 718, "protein_name": "Threonine--tRNA ligase, mitochondrial", "gene_name": "TARS2", "organism": "Human", "refseq_name": "threonine--tRNA ligase, mitochondrial isoform c", "refseq_ac": [ { "id": "NP_001258825", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258825", "type": "external" } ], "gene_names_uniprotkb": "TARS2; TARSL1", "gene_names_refseq": "COXPD21; TARS2; TARSL1; thrRS", "protein_names_uniprotkb": "Threonine--tRNA ligase, mitochondrial; 6.1.1.3; ThrRS; Threonyl-tRNA synthetase-like 1; Threonyl-tRNA synthetase", "protein_names_refseq": "threonine--tRNA ligase, mitochondrial isoform c; threonine--tRNA ligase, mitochondrial; threonyl-tRNA synthetase 2, mitochondrial (putative); threonyl-tRNA synthetase-like 1", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 21 (Disease Ontology:DOID:0111465); nonphotosensitive trichothiodystrophy (Disease Ontology:DOID:0111867); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:80222); (R-HSA-379726)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;19209188;21406692;24827421;25576301;25892735;26811336;26992070;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29769354;30315122;30779550;31217245;31530632;31844290;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33153448;33298915;33340489;33392160;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34229054;34509645;34561969;35051231;35705054;36010968;37454282;7755634;8078941;9278442;9466989", "class_list": "", "function": "Catalyzes the attachment of threonine to tRNA(Thr) in a two-step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder., [RefSeq, PubMed]; Identification of a TARS2 splicing variant in several human cell lines, which encodes a hmtThrRS derivative lacking a peptide covering a portion of both the editing and the aminoacylation domains., [RefSeq, PubMed]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Mitochondrial Threonyl-tRNA Synthetase TARS2 Is Required for Threonine-Sensitive mTORC1 Activation., [RefSeq, PubMed]; Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. Publication Status: Online-Only, [RefSeq, PubMed]; TARS2 mutations caused fatal mitochondrial encephalomyopathy in two siblings., [RefSeq, PubMed]; This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 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": 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": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53GW7;Q96I50;Q9H9V2", "ec_number_list": [ { "id": "6.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.3", "type": "external" } ], "go_molecular_function": "GO:0002161 aminoacyl-tRNA deacylase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0004829 threonine-tRNA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0070159 mitochondrial threonyl-tRNA aminoacylation;GO:0006435 threonyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9BW92-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96Q45-1", "uniprot_id": [ { "id": "TM237_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96Q45", "type": "external" } ], "mass": 45526.0, "length": 408, "protein_name": "Transmembrane protein 237", "gene_name": "TMEM237", "organism": "Human", "refseq_name": "transmembrane protein 237 isoform a", "refseq_ac": [ { "id": "NP_001037850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001037850", "type": "external" } ], "gene_names_uniprotkb": "TMEM237; ALS2CR4", "gene_names_refseq": "ALS2CR4; JBTS14; TMEM237", "protein_names_uniprotkb": "Transmembrane protein 237; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein", "protein_names_refseq": "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4; amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein; transmembrane protein 237 isoform a", "tax_id": 9606, "disease": "Joubert syndrome (Disease Ontology:DOID:0050777); Joubert syndrome 14 (Disease Ontology:DOID:0110983)", "pathway": " (hsa:65062)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;11586298;17081983;18578522;19651622;22152675;23186163;25892735;26595381;28218747;28514659;28904123;29437277;29557506;30315122;31844290;32350084;33912179;33968037;34357683;34561969;35251023;36241641", "class_list": "", "function": "Component of the transition zone in primary cilia. Required for ciliogenesis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a tetraspanin protein that is thought to be involved in WNT signaling. Defects in this gene are a cause of Joubert syndrome-14. Two 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4E1R8;B4E2R8;E9PAR8;E9PBF8;E9PG24;E9PGX0;Q53TS9;Q53TT2;Q7Z3B6;Q8IZ18;Q8NBF8;Q96CY1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0016020 membrane;GO:0032391 photoreceptor connecting cilium;GO:0035869 ciliary transition zone;GO:0120199 cone photoreceptor outer segment", "go_biological_process": "GO:0060271 cilium assembly;GO:0030111 regulation of Wnt signaling pathway;GO:1904491 protein localization to ciliary transition zone;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q96Q45-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L7X3-1", "uniprot_id": [ { "id": "TAOK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L7X3", "type": "external" } ], "mass": 116070.0, "length": 1001, "protein_name": "Serine/threonine-protein kinase TAO1", "gene_name": "TAOK1", "organism": "Human", "refseq_name": "serine/threonine-protein kinase TAO1 isoform 1", "refseq_ac": [ { "id": "NP_065842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065842", "type": "external" } ], "gene_names_uniprotkb": "TAOK1; KIAA1361; MAP3K16; MARKK", "gene_names_refseq": "DDIB; KFC-B; MAP3K16; MARKK; PSK-2; PSK2; TAO1; TAOK1; hKFC-B; hTAOK1", "protein_names_uniprotkb": "Serine/threonine-protein kinase TAO1; 2.7.11.1; Kinase from chicken homolog B; MARK Kinase; MARKK; PSK-2; PSK2; Prostate-derived STE20-like kinase 2; Prostate-derived sterile 20-like kinase 2; TAOK1; Thousand and one amino acid protein kinase 1; hKFC-B; hTAOK1", "protein_names_refseq": "MARK Kinase; STE20-like kinase PSK2; kinase from chicken homolog B; microtubule affinity regulating kinase kinase; prostate-derived STE20-like kinase 2; prostate-derived sterile 20-like kinase 2; serine/threonine protein kinase TAO1 homolog; serine/threonine-protein kinase TAO1 isoform 1; serine/threonine-protein kinase TAO1; thousand and one amino acid protein 1; thousand and one amino acid protein kinase 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515); cancer (Disease Ontology:DOID:162); central nervous system disease (Disease Ontology:DOID:331); developmental delay with or without intellectual impairment or behavioral abnormalities (MONDO:MONDO:0859199)", "pathway": " (hsa:57551); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-5663220); (R-HSA-68877); (R-HSA-9648025); (R-HSA-9920951)", "pathway_count": 9, "publication_count": 173, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12665513;12679384;12732141;12805219;12852857;13679851;14730319;15006353;15085137;15302935;15339662;15507212;15723797;15737063;15864301;15866170;15944396;16292343;16407310;16439214;16541025;16622419;16622420;16682347;16890222;16893890;16943183;16964243;17030981;17081983;17112726;17113138;17129783;17196341;17198702;17344846;1737036;17396146;17417629;17900936;18001770;18088087;18097444;18212344;18669648;18691976;18716626;18767875;18923426;19350017;19369195;19413330;19651622;19664994;19664995;19690332;19696148;19815554;19904549;19965387;20030946;20068231;20101212;20162290;20591975;20949042;21111234;21148482;21397845;21406692;21576392;21868368;21878504;21987589;22094460;22275430;22608513;22790947;22885700;23186163;23222643;23801653;24715725;24914801;24973451;25367160;25576301;25645385;25740311;25789526;26154972;26992070;27108190;27397612;27600516;27846572;27862975;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;30429286;30484775;30620550;30779550;30833945;31154438;31222486;31230721;31409757;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33565190;33592498;33633747;33691108;33717175;33912179;33968037;34171305;34260926;34357683;34509645;35051231;35091509;35142978;35196780;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36310878;36930872;37938771;38613803;38665916;9649308;9649503;9786855;9892021", "class_list": "", "function": "Exosomal circTAOK1 contributes to diabetic kidney disease progression through regulating SMAD3 expression by sponging miR-520h., [RefSeq, PubMed]; Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder. Publication Status: Online-Only, [RefSeq, PubMed]; LincRNA00907 promotes NASH progression by targeting miRNA-942-5p/TAOK1., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in various processes such as p38/MAPK14 stress-activated MAPK cascade, DNA damage response and regulation of cytoskeleton stability. Phosphorylates MAP2K3, MAP2K6 and MARK2. Acts as an activator of the p38/MAPK14 stress-activated MAPK cascade by mediating phosphorylation and subsequent activation of the upstream MAP2K3 and MAP2K6 kinases. Involved in G protein-coupled receptor signaling to p38/MAPK14. In response to DNA damage, involved in the G2/M transition DNA damage checkpoint by activating the p38/MAPK14 stress-activated MAPK cascade, probably by mediating phosphorylation of MAP2K3 and MAP2K6. Acts as a regulator of cytoskeleton stability by phosphorylating 'Thr-208' of MARK2, leading to activate MARK2 kinase activity and subsequent phosphorylation and detachment of MAPT/TAU from microtubules. Also acts as a regulator of apoptosis: regulates apoptotic morphological changes, including cell contraction, membrane blebbing and apoptotic bodies formation via activation of the MAPK8/JNK cascade. Plays an essential role in the regulation of neuronal development in the central nervous system (PubMed:33565190). Also plays a role in the regulation of neuronal migration to the cortical plate (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Silencing of STE20-type kinase TAOK1 confers protection against hepatocellular lipotoxicity through metabolic rewiring. Publication Status: Online-Only, [RefSeq, PubMed]; [The role and mechanism of lncRNA C9ORF139 targeting miR-24-3P/TAOK1 in regulating the proliferation of acute myeloid leukemia 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": 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": 6, "reported_glycation": 0, "reported_snv": 16, "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": "A2RUT8;B7ZLV6;Q96L75;Q9H2K7;Q9H7S5;Q9P2I6", "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": "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": "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": "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": "3.4.22.49", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.49", "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": "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:0048156 tau protein binding;GO:0016740 transferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0015630 microtubule cytoskeleton", "go_biological_process": "GO:0006281 DNA repair;GO:0032956 regulation of actin cytoskeleton organization;GO:0046330 positive regulation of JNK cascade;GO:0070050 neuron cellular homeostasis;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "Q7L7X3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6XGL0-1", "uniprot_id": [ { "id": "YJEN3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6XGL0", "type": "external" } ], "mass": 32585.0, "length": 299, "protein_name": "YjeF N-terminal domain-containing protein 3", "gene_name": "YJEFN3", "organism": "Human", "refseq_name": "yjeF N-terminal domain-containing protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001177257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177257", "type": "external" } ], "gene_names_uniprotkb": "YJEFN3; AIBP2", "gene_names_refseq": "YJEFN3", "protein_names_uniprotkb": "YjeF N-terminal domain-containing protein 3; ApoA-I-binding protein 2; YjeF_N3; hYjeF_N3", "protein_names_refseq": "apoA-I-binding protein 2; apolipoprotein A1 binding protein; hYjeF_N3-19p13.11; yjeF N-terminal domain-containing protein 3 isoform 2; yjeF N-terminal domain-containing protein 3; yjeF_N3", "tax_id": 9606, "disease": "", "pathway": " (hsa:374887)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;17533573;23719382;25892735;29393594;29632046;32157095;32265295;35051231;35494241", "class_list": "", "function": "May accelerate cholesterol efflux from endothelial cells to high-density lipoprotein (HDL) and thereby regulates angiogenesis. May orchestrate hematopoietic stem and progenitor cell emergence from the hemogenic endothelium, a type of specialized endothelium manifesting hematopoietic potential. YJEFN3-mediated cholesterol efflux activates endothelial SREBF2, the master transcription factor for cholesterol biosynthesis, which in turn transactivates NOTCH and promotes hematopoietic stem and progenitor cell emergence (By similarity). May play a role in spermiogenesis and oogenesis (PubMed:17533573)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6XGK9;Q4G1C0", "ec_number_list": [], "go_molecular_function": "GO:0052856 NAD(P)HX epimerase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0006869 lipid transport;GO:0016525 negative regulation of angiogenesis;GO:0002040 sprouting angiogenesis;GO:0071425 hematopoietic stem cell proliferation;GO:0010874 regulation of cholesterol efflux", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "A6XGL0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96C92-1", "uniprot_id": [ { "id": "ENTR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96C92", "type": "external" } ], "mass": 47961.0, "length": 435, "protein_name": "Endosome-associated-trafficking regulator 1", "gene_name": "ENTR1", "organism": "Human", "refseq_name": "endosome-associated-trafficking regulator 1 isoform 1", "refseq_ac": [ { "id": "NP_001034796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034796", "type": "external" } ], "gene_names_uniprotkb": "ENTR1; SDCCAG3", "gene_names_refseq": "ENTR1; NY-CO-3; SDCCAG3; SDDAG3", "protein_names_uniprotkb": "Endosome-associated-trafficking regulator 1; Antigen NY-CO-3; Serologically defined colon cancer antigen 3", "protein_names_refseq": "antigen NY-CO-3; endosome-associated-trafficking regulator 1 isoform 1; serologically defined colon cancer antigen 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10807)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "11237011;16332174;17081983;18669648;19415658;19651622;20068231;23108400;23186163;23301498;24275569;25278552;26992070;27767179;27812135;28832583;28904123;29242379;29493099;29557506;31217245;31844290;32157095;32938616;32983136;33691108;33717175;33912179;36010968;38191954;9610721", "class_list": "", "function": "Endosome associated trafficking regulator 1 promotes tumor growth and invasion of glioblastoma multiforme via inhibiting TNF signaling pathway., [RefSeq, PubMed]; Endosome-associated protein that plays a role in membrane receptor sorting, cytokinesis and ciliogenesis (PubMed:23108400, PubMed:25278552, PubMed:27767179). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552). Involved in the regulation of cytokinesis; the function may involve PTPN13 and GIT1 (PubMed:23108400). Plays a role in the formation of cilia (PubMed:27767179). Involved in cargo protein localization, such as PKD2, at primary cilia (PubMed:27767179). Involved in the presentation of the tumor necrosis factor (TNF) receptor TNFRSF1A on the cell surface, and hence in the modulation of the TNF-induced apoptosis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; SDCCAG3 has a role in ciliogenesis and in localization of cargo to primary cilia Publication Status: Online-Only, [RefSeq, PubMed]; SDCCAG3 is important for protein trafficking and presentation of TNFR1 on the cell surface., [RefSeq, PubMed]; The novel endosomal protein SDCCAG3 forms a complex with PTPN13 & interacts with GIT1. Interaction of SDCCAG3 with PTPN13 is mediated by the PTPN13 FERM domain & the SDCCAG3 N-terminus. SDCCAG3 expression levels are elevated 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "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": "A6NCP1;O60525;Q5SXN1;Q5SXN2;Q5SXN3;Q5SXN4;Q5SXN8;Q6V704;Q9NVY5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005768 endosome;GO:0005769 early endosome;GO:0005813 centrosome;GO:0055037 recycling endosome;GO:0030496 midbody", "go_biological_process": "GO:0015031 protein transport;GO:0051301 cell division;GO:0030030 cell projection organization;GO:0032456 endocytic recycling;GO:1903566 positive regulation of protein localization to cilium", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q96C92-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99576-1", "uniprot_id": [ { "id": "T22D3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99576", "type": "external" } ], "mass": 14810.0, "length": 134, "protein_name": "TSC22 domain family protein 3", "gene_name": "TSC22D3", "organism": "Human", "refseq_name": "TSC22 domain family protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001305397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305397", "type": "external" } ], "gene_names_uniprotkb": "TSC22D3; DSIPI; GILZ", "gene_names_refseq": "DIP; DSIPI; GILZ; TSC-22R; TSC22D3", "protein_names_uniprotkb": "TSC22 domain family protein 3; DSIP-immunoreactive peptide; Delta sleep-inducing peptide immunoreactor; GILZ; Glucocorticoid-induced leucine zipper protein; Protein DIP; TSC-22-like protein; TSC-22-related protein; TSC-22R; hDIP", "protein_names_refseq": "DSIP-immunoreactive leucine zipper protein; DSIP-immunoreactive peptide; TSC-22 related protein; TSC-22-like protein; TSC22 domain family protein 3 isoform 1; TSC22 domain family protein 3; delta sleep-inducing peptide immunoreactor; glucocorticoid-induced leucine zipper protein", "tax_id": 9606, "disease": "primary hypertrophic osteoarthropathy (Disease Ontology:DOID:14283)", "pathway": " (hsa:1831); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 181, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11230166;11237011;11313722;11468175;11588175;11687798;11688842;11734858;11782012;11842292;11904445;11956057;12393603;12393854;12907679;1379744;14584882;14634667;15010458;15031210;15044642;15116427;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17381423;17448995;17699613;17881003;18000046;18063579;18088087;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19413330;19620632;19808995;19953639;20068231;20388639;20466723;20525693;20538786;21040849;21209280;21527911;21984732;22002868;22424782;22544926;22773952;22869377;22946059;2298749;23112050;23186163;2321095;23481700;23616951;23729444;24714562;24715725;2536303;25505266;25576301;25645385;26154972;26359375;26562072;26728094;26752201;26992070;27543614;27600516;27846572;27862975;27920218;28071645;28154142;28228285;28790369;28832583;28834231;28860189;28904123;29242379;29331515;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;31154438;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33691108;33912179;33927191;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35154160;35318648;35561310;35563776;35580925;36010968;36215666;36241641;36505447;37316325;37938771;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;8982256;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Exogenous GILZ exerts inhibitory effects on endothelial cell adhesive function via a novel pathway involving modulation of NF-kappaB p65 DNA binding and MAPK activity., [RefSeq, PubMed]; Expression Profiles of GILZ and Annexin A1 in Human Oral Candidiasis and Lichen Planus. Publication Status: Online-Only, [RefSeq, PubMed]; Glucocorticoid-induced leucine zipper regulates liver fibrosis by suppressing CCL2-mediated leukocyte recruitment. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits myogenic differentiation and mediates anti-myogenic effects of glucocorticoids by binding and regulating MYOD1 and HDAC1 transcriptional activity resulting in reduced expression of MYOG., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Protects T-cells from IL2 deprivation-induced apoptosis through the inhibition of FOXO3A transcriptional activity that leads to the down-regulation of the pro-apoptotic factor BCL2L11 (PubMed:15031210). In macrophages, plays a role in the anti-inflammatory and immunosuppressive effects of glucocorticoids and IL10 (PubMed:12393603). In T-cells, inhibits anti-CD3-induced NFKB1 nuclear translocation and thereby NFKB1 DNA-binding activities (PubMed:11468175). In vitro, suppresses AP-1 transcription factor complex DNA-binding activities (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; This gene encodes the anti-inflammatory protein glucocorticoid (GC)-induced leucine zipper. Expression of this gene stimulated by glucocorticoids and interleukin 10 and it appears to play a key role in the anti-inflammatory and immunosuppressive effects of this steroid. This protein has also been shown to inhibit pro-inflammatory molecules including nuclear factor κB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; Type 1 interferon suppresses expression and glucocorticoid induction of glucocorticoid-induced leucine zipper (GILZ). 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": 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": "Q5H9S3;Q5JRI9;Q5JRJ2;Q6FIH6;Q8NAI1;Q8WVB9;Q9UBN5;Q9UG13", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0070236 negative regulation of activation-induced cell death of T cells", "synthesized_glycan_count": 0, "hit_score": 18.2, "record_id": "Q99576-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H061-1", "uniprot_id": [ { "id": "T126A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H061", "type": "external" } ], "mass": 21527.0, "length": 195, "protein_name": "Transmembrane protein 126A", "gene_name": "TMEM126A", "organism": "Human", "refseq_name": "transmembrane protein 126A isoform 2", "refseq_ac": [ { "id": "NP_001231664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001231664", "type": "external" } ], "gene_names_uniprotkb": "TMEM126A", "gene_names_refseq": "OPA7; TMEM126A", "protein_names_uniprotkb": "Transmembrane protein 126A", "protein_names_refseq": "optic atrophy 7; transmembrane protein 126A isoform 2", "tax_id": 9606, "disease": "optic atrophy 7 (Disease Ontology:DOID:0111437)", "pathway": " (hsa:84233); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;11220739;11230166;11237011;17936786;19327736;19752196;20405026;20406883;20552642;20858599;20877624;21924235;22815638;23500070;23553477;24191001;25678554;26375851;27499296;27626371;28510447;28904123;29242379;30315122;30429286;30961538;31119195;31666358;31844290;31848261;31866046;32157095;32320651;32983136;33298915;33592498;33879611;33882309;33912179;33968037;35333655;35614220;36241641;38199007;9571201", "class_list": "", "function": "NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate., [RefSeq, PubMed]; Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I., [RefSeq, PubMed]; Protein required for the cotranslational protein quality control in the inner membrane of the mitochondria (PubMed:38199007). Associates with newly synthesized polypeptides and may act as a chaperone that cooperates with OXA1L for the insertion of newly synthesized mitochondrial proteins into the inner membrane (PubMed:38199007). Required for the assembly of the ND4 module of mitochondrial complex I (PubMed:33879611, PubMed:33882309)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; TMEM126A encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms., [RefSeq, PubMed]; TMEM126A is a mitochondrial located mRNA (MLR) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane, [RefSeq, PubMed]; The first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy, is described. Publication Status: Online-Only, [RefSeq, PubMed]; The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy., [RefSeq, PubMed]; The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [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": 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": 8, "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": "B2R570;E9PI16", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0021554 optic nerve development;GO:0032979 protein insertion into mitochondrial inner membrane from matrix;GO:0141164 mitochondrial protein quality control", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9H061-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95858-1", "uniprot_id": [ { "id": "TSN15_HUMAN", "url": "https://www.uniprot.org/uniprot/O95858", "type": "external" } ], "mass": 33165.0, "length": 294, "protein_name": "Tetraspanin-15", "gene_name": "TSPAN15", "organism": "Human", "refseq_name": "tetraspanin-15 isoform 1", "refseq_ac": [ { "id": "NP_036471", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036471", "type": "external" } ], "gene_names_uniprotkb": "TSPAN15; NET7; PRO1311; TM4SF15", "gene_names_refseq": "2700063A19Rik; NET-7; NET7; TM4SF15; TSPAN15", "protein_names_uniprotkb": "Tetraspanin-15; Tetraspan NET-7; Transmembrane 4 superfamily member 15; Tspan-15", "protein_names_refseq": "tetraspanin-15 isoform 1; transmembrane 4 superfamily member 15; transmembrane 4 superfamily member tetraspan NET-7; tspan-15", "tax_id": 9606, "disease": "", "pathway": " (hsa:23555); (R-HSA-977225)", "pathway_count": 2, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;10097139;10319874;10391242;10411933;10583407;10956649;11237011;11278841;11401442;11467836;11590439;118839;12454989;1270801;12975309;14506261;14567678;15064394;15962837;16174740;16385451;16799559;17425515;18065497;18070888;1837051;18449172;18484335;1849145;19011241;19658395;19828817;20676056;20807650;2118650;2195544;22065755;22131221;23090970;23813966;2409350;24190977;24833601;24893886;25523424;25892735;26018760;26417681;26668317;26686862;26807092;27869121;279930;28904123;2900981;29557506;3035556;30463011;3053705;3080684;3094007;3142462;31792032;32111735;32387766;32938616;32983136;33968037;34739841;35051231;35580925;36010968;36284347;3675579;37516108;8033412;8097946;8114934;8159701;8464497;8490014;8870004;9006323;9054935;9862427", "class_list": "", "function": "Crystal structure of the Tspan15 LEL domain reveals a conserved ADAM10 binding site., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Part of TspanC8 subgroup, composed of 6 members that interact with the transmembrane metalloprotease ADAM10. This interaction is required for ADAM10 exit from the endoplasmic reticulum and for enzymatic maturation and trafficking to the cell surface as well as substrate specificity. Different TspanC8/ADAM10 complexes have distinct substrates (PubMed:26686862, PubMed:30463011, PubMed:31792032, PubMed:34739841). Promotes ADAM10-mediated cleavage of CDH2 (PubMed:34739841). Negatively regulates ligand-induced Notch activity probably by regulating ADAM10 activity (PubMed:26686862, PubMed:31792032)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; 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. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The tetraspanin Tspan15 is an essential subunit of an ADAM10 scissor 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": 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": 1, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 9688, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6UW79", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0097197 tetraspanin-enriched microdomain;GO:0031902 late endosome membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0051604 protein maturation;GO:0045746 negative regulation of Notch signaling pathway;GO:0051043 regulation of membrane protein ectodomain proteolysis", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "O95858-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07204-1", "uniprot_id": [ { "id": "TRBM_HUMAN", "url": "https://www.uniprot.org/uniprot/P07204", "type": "external" } ], "mass": 60329.0, "length": 575, "protein_name": "Thrombomodulin", "gene_name": "THBD", "organism": "Human", "refseq_name": "thrombomodulin precursor", "refseq_ac": [ { "id": "NP_000352", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000352", "type": "external" } ], "gene_names_uniprotkb": "THBD; THRM", "gene_names_refseq": "AHUS6; BDCA-3; BDCA3; CD141; THBD; THPH12; THRM; TM", "protein_names_uniprotkb": "Thrombomodulin; Fetomodulin; TM", "protein_names_refseq": "CD141 antigen; fetomodulin; thrombomodulin precursor", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); stroke (Disease Ontology:DOID:0051061); atypical hemolytic-uremic syndrome (Disease Ontology:DOID:0080301); thrombophilia due to thrombomodulin defect (Disease Ontology:DOID:0111908); brain small vessel disease (Disease Ontology:DOID:0112313); dermatomyositis (Disease Ontology:DOID:10223); Alzheimer's disease (Disease Ontology:DOID:10652); hypertension (Disease Ontology:DOID:10763); disseminated intravascular coagulation (Disease Ontology:DOID:11247); adult respiratory distress syndrome (Disease Ontology:DOID:11394); granulomatosis with polyangiitis (Disease Ontology:DOID:12132); familial combined hyperlipidemia (Disease Ontology:DOID:13809); hypothyroidism (Disease Ontology:DOID:1459); impotence (Disease Ontology:DOID:1875); thrombophilia (Disease Ontology:DOID:2452); asthma (Disease Ontology:DOID:2841); severe acute respiratory syndrome (Disease Ontology:DOID:2945); familial Mediterranean fever (Disease Ontology:DOID:2987); acute kidney failure (Disease Ontology:DOID:3021); ischemia (Disease Ontology:DOID:326); coronary artery disease (Disease Ontology:DOID:3393); carotid artery thrombosis (Disease Ontology:DOID:3410); cerebral infarction (Disease Ontology:DOID:3526); lung non-small cell carcinoma (Disease Ontology:DOID:3908); liver disease (Disease Ontology:DOID:409); pulmonary hypertension (Disease Ontology:DOID:6432); systemic juvenile rheumatoid arthritis (Disease Ontology:DOID:676); ankylosing spondylitis (Disease Ontology:DOID:7147); rheumatoid arthritis (Disease Ontology:DOID:7148); end stage renal disease (Disease Ontology:DOID:783); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778); systemic lupus erythematosus (Disease Ontology:DOID:9074); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744); obesity (Disease Ontology:DOID:9970); atypical hemolytic-uremic syndrome with thrombomodulin anomaly (MONDO:MONDO:0013044)", "pathway": " (hsa:7056); (R-HSA-202733); (R-HSA-9769739)", "pathway_count": 3, "publication_count": 154, "publication_id_list": "10026158;10460600;10606205;10627464;10761923;10764623;11035113;11207550;11238108;11245641;11256994;11564780;11570577;11574074;11779189;11812992;11833835;11986219;12052963;12070135;12139752;12208882;12458951;12469115;12782713;12907439;1314561;14529530;14615387;15000751;15528364;15574195;15681301;15721307;15841214;1591491;16161994;1618828;16258728;16297198;16585556;16619025;16691243;16737840;16783819;17064312;17099249;17116209;17167768;17172599;17322099;17379836;17442946;17452516;17505016;17506785;17525755;17563375;17580308;17598008;17600130;17615384;17625065;17635713;1902833;19279206;19297154;1930190;19625716;20427285;20513133;21193412;21659548;21932952;22144186;22618708;2271516;22786881;23090970;23683607;2384594;23945545;24043627;24190977;24554904;24764293;2538457;25713144;25855704;26663133;27055590;2819876;2820710;2822087;2836377;29323190;29419409;29557506;30918026;31222486;31262782;31439947;32488085;32619411;33836597;33968037;34087483;35051231;35275719;35580925;36951953;37074911;3744129;37726033;38057335;38081783;38174561;38330539;38373411;3863104;468991;6323392;7499257;7509040;7521878;7559494;7811989;7947766;8144529;8163559;8166770;8216207;8314844;8390446;8528067;8639781;8745396;9052782;9157575;9169774;9198186;9218519;9236408;9242610;9295288;9364978;9367781;9382878;9395524;9459334;9469622;9693095;9763524;9843165", "class_list": "glycogene", "function": "Altered release of thrombomodulin and HMGB1 in the placenta complicated with preeclampsia., [RefSeq, PubMed]; Endothelial cell receptor that plays a critical role in regulating several physiological processes including hemostasis, coagulation, fibrinolysis, inflammation, and angiogenesis (PubMed:10761923). Acts as a cofactor for thrombin activation of protein C/PROC on the surface of vascular endothelial cells leading to initiation of the activated protein C anticoagulant pathway (PubMed:29323190, PubMed:33836597, PubMed:9395524). Also accelerates the activation of the plasma carboxypeptidase B2/CPB2, which catalyzes removal of C-terminal basic amino acids from its substrates including kinins or anaphylatoxins leading to fibrinolysis inhibition (PubMed:26663133). Plays critical protective roles in changing the cleavage specificity of protease-activated receptor 1/PAR1, inhibiting endothelial cell permeability and inflammation (By similarity). Suppresses inflammation distinctly from its anticoagulant cofactor activity by sequestering HMGB1 thereby preventing it from engaging cellular receptors such as RAGE and contributing to the inflammatory response (PubMed:15841214)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; The protein encoded by this intronless gene is an endothelial-specific type I membrane receptor that binds thrombin. This binding results in the activation of protein C, which degrades clotting factors Va and VIIIa and reduces the amount of thrombin generated. Mutations in this gene are a cause of thromboembolic disease, also known as inherited thrombophilia. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of thrombomodulin in modulating ITGB3 expression and its implications for triple-negative breast cancer progression., [RefSeq, PubMed]; Thrombomodulin Gene Mutation and Associated Predisposing Factors in Familial Collapsing Glomerulopathy., [RefSeq, PubMed]; Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin., [RefSeq, PubMed]; Variation in presepsin and thrombomodulin levels for predicting COVID-19 mortality. 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": 11, "mined_n_glycosites": 5, "mined_o_glycosites": 6, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 3, "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": 5, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 899, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "prognostic; diagnostic", "glycan_count": 2, "disease_count": 37, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "Q8IV29;Q9UC32", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005509 calcium ion 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_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation;GO:0051918 negative regulation of fibrinolysis;GO:0030195 negative regulation of blood coagulation;GO:0010544 negative regulation of platelet activation", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "P07204-1", "record_type": "protein", "filter_code": "1001000.1100111.100000.000000000001000000.1100110000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TC36-1", "uniprot_id": [ { "id": "SUN5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TC36", "type": "external" } ], "mass": 43081.0, "length": 379, "protein_name": "SUN domain-containing protein 5", "gene_name": "SUN5", "organism": "Human", "refseq_name": "SUN domain-containing protein 5", "refseq_ac": [ { "id": "NP_542406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542406", "type": "external" } ], "gene_names_uniprotkb": "SUN5; SPAG4L; TSARG4", "gene_names_refseq": "SPAG4L; SPGF16; SUN5; TSARG4; dJ726C3.1", "protein_names_uniprotkb": "SUN domain-containing protein 5; Sad1 and UNC84 domain-containing protein 5; Sperm-associated antigen 4-like protein; Testis and spermatogenesis-related gene 4 protein", "protein_names_refseq": "SUN domain-containing protein 5; epididymis secretory sperm binding protein; sad1 and UNC84 domain-containing protein 5; sperm-associated antigen 4-like protein; testis and spermatogenesis related gene 4; testis and spermatogenesis-related gene 4 protein", "tax_id": 9606, "disease": "spermatogenic failure 16 (Disease Ontology:DOID:0070184)", "pathway": " (hsa:140732)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12621555;21711156;27640305;27912045;28541472;28945193;29298896;29557506;32938616;33671757;34159570;38870534", "class_list": "", "function": "Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome., [RefSeq, PubMed]; Required for male fertility (PubMed:38870534). Plays an essential role in maintenance of sperm head-to-tail attachment during late stages of spermiogenesis, via promoting secure attachment of the nuclear envelop to the flagellum coupling apparatus (Probable) (PubMed:38870534). Component of the LMNB1/SUN5/SEPT12 bridge that connects the sperm proximal centriole to the implantation fossa, the bridge functions to prevent detachment of the proximal centriole from the posterior nucleus during spermiogenesis (PubMed:38870534). Required for localization of SEPT12 at the implantation fossa of sperm cells during spermiogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Results demonstrate that biallelic SUN5 mutations cause male infertility due to autosomal-recessive acephalic spermatozoa syndrome Erratum:[Am J Hum Genet. 2016 Dec 1;99(6):1405. doi: 10.1016/j.ajhg.2016.11.002. PMID: 27912045], [RefSeq, PubMed]; SPAG4L may play an important role in the meiotic stage of spermatogenesis, [RefSeq, PubMed]; SUN5 interacts with nuclear membrane LaminB1 and cytoskeletal GTPase Septin12 mediating the sperm head-and-tail junction., [RefSeq, PubMed]; The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 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": 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": "A6NJ82;Q5T9R0", "ec_number_list": [], "go_molecular_function": "GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005794 Golgi apparatus;GO:0005637 nuclear inner membrane;GO:0034993 meiotic nuclear membrane microtubule tethering complex;GO:0120212 sperm head-tail coupling apparatus", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007286 spermatid development;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8TC36-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0L1-1", "uniprot_id": [ { "id": "ZKSC7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0L1", "type": "external" } ], "mass": 85033.0, "length": 754, "protein_name": "Zinc finger protein with KRAB and SCAN domains 7", "gene_name": "ZKSCAN7", "organism": "Human", "refseq_name": "zinc finger protein with KRAB and SCAN domains 7 isoform 1", "refseq_ac": [ { "id": "NP_001275519", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275519", "type": "external" } ], "gene_names_uniprotkb": "ZKSCAN7; ZNF167; ZNF448; ZNF64", "gene_names_refseq": "ZFP; ZKSCAN7; ZNF167; ZNF448; ZNF64; ZSCAN39", "protein_names_uniprotkb": "Zinc finger protein with KRAB and SCAN domains 7; Zinc finger protein 167; Zinc finger protein 448; Zinc finger protein 64", "protein_names_refseq": "zinc finger protein 167; zinc finger protein 448; zinc finger protein 64; zinc finger protein with KRAB and SCAN domains 7 isoform 1; zinc finger protein with KRAB and SCAN domains 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:55888); (R-HSA-212436)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;30429286;31217245;31848261;32157095;32502341;32897882;32938616;32983136;33691108;33968037;35561310;35580925;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0PJV3;A8K5H0;Q6WL09;Q96FQ2", "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_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "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": 2.8, "record_id": "Q9P0L1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX18-1", "uniprot_id": [ { "id": "SDHF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX18", "type": "external" } ], "mass": 19599.0, "length": 166, "protein_name": "Succinate dehydrogenase assembly factor 2, mitochondrial", "gene_name": "SDHAF2", "organism": "Human", "refseq_name": "succinate dehydrogenase assembly factor 2, mitochondrial", "refseq_ac": [ { "id": "NP_060311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060311", "type": "external" } ], "gene_names_uniprotkb": "SDHAF2; C11orf79; PGL2; SDH5", "gene_names_refseq": "C11orf79; PGL2; PPGL2; SDH5; SDHAF2; hSDH5", "protein_names_uniprotkb": "Succinate dehydrogenase assembly factor 2, mitochondrial; SDH assembly factor 2; SDHAF2", "protein_names_refseq": "SDH assembly factor 2; succinate dehydrogenase assembly factor 2, mitochondrial; succinate dehydrogenase subunit 5, mitochondrial", "tax_id": 9606, "disease": "pheochromocytoma/paraganglioma syndrome 2 (Disease Ontology:DOID:0061217)", "pathway": " (hsa:54949); (R-HSA-9854311)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11237011;15247478;17923681;19628817;20167786;22416140;24190977;24954416;24954417;25576301;25880248;26749241;27846572;28380382;28384794;28391595;28832583;28887308;29242379;29493099;29557506;29632711;29786170;30315122;30779550;31154438;31217245;31222486;31844290;31848261;32157095;32502341;32887801;32938616;32983136;33141586;33298915;33592498;33717175;33981976;34171305;34211107;34289383;34932366;35051231;35580925;36241641;37217939;9989622", "class_list": "", "function": "Plays an essential role in the assembly of succinate dehydrogenase (SDH), an enzyme complex (also referred to as respiratory complex II) that is a component of both the tricarboxylic acid (TCA) cycle and the mitochondrial electron transport chain, and which couples the oxidation of succinate to fumarate with the reduction of ubiquinone (coenzyme Q) to ubiquinol. Required for flavinylation (covalent attachment of FAD) of the flavoprotein subunit SDHA of the SDH catalytic dimer., [UniProtKB, HAMAP, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to hereditary pheochromocytoma and paraganglioma., [RefSeq, PubMed]; The roles of SDHAF2 and dicarboxylate in covalent flavinylation of SDHA, the human complex II flavoprotein., [RefSeq, PubMed]; This gene encodes a mitochondrial assembly factor needed for the flavination of a succinate dehydrogenase complex subunit (SDHA), which is required for activity of the succinate dehydrogenase complex. Mutations in this gene are associated with paraganglioma. [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": 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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0006470 protein dephosphorylation;GO:0006121 mitochondrial electron transport, succinate to ubiquinone;GO:0010719 negative regulation of epithelial to mesenchymal transition", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9NX18-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFY4-1", "uniprot_id": [ { "id": "SEM6D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFY4", "type": "external" } ], "mass": 119872.0, "length": 1073, "protein_name": "Semaphorin-6D", "gene_name": "SEMA6D", "organism": "Human", "refseq_name": "semaphorin-6D isoform 1 precursor", "refseq_ac": [ { "id": "NP_001185928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185928", "type": "external" } ], "gene_names_uniprotkb": "SEMA6D; KIAA1479", "gene_names_refseq": "SEMA6D", "protein_names_uniprotkb": "Semaphorin-6D", "protein_names_refseq": "sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D; semaphorin-6D isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:80031); (R-HSA-416700)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10520995;10648410;11114375;11237011;12110693;12882840;15218527;15550623;16715077;17318185;23186163;23584533;29557506;29769354;29789417;31530632;31814570;31844290;32157095;32472335;32938616;33592498;33960276;35051231;35154160;35580925;36010968;36215666;39002542;8955171", "class_list": "", "function": "CircUBAP2 promotes SEMA6D expression to enhance the cisplatin resistance in osteosarcoma through sponging miR-506-3p by activating Wnt/beta-catenin signaling pathway. Erratum:[J Mol Histol. 2020 Aug;51(4):471. doi: 10.1007/s10735-020-09894-5. PMID: 32666371], [RefSeq, PubMed]; Identification, characterization, and functional study of the two novel human members of the semaphorin gene family, [RefSeq, PubMed]; Neuroimaging genetic associations between SEMA6D, brain structure, and reading skills., [RefSeq, PubMed]; Semaphorin 6D tunes amygdalar circuits for emotional, metabolic, and inflammatory outputs., [RefSeq, PubMed]; Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010]., [RefSeq]; Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections. Ligand of TREM2 with PLXNA1 as coreceptor in dendritic cells, plays a role in the generation of immune responses and skeletal homeostasis (By similarity)., [UniProtKB, UniProtKB]; The high expression of SEMA6D and Snail in gastric cancer are related to the malignant clinicopathological indexes of gastric cancer., [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": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 52, "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": "A6NF10;A6NM95;A6NNK1;A7E2A0;Q8NFY3;Q8NFY5;Q8NFY6;Q8NFY7;Q9P249", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0045499 chemorepellent activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0002291 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell;GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8NFY4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3MJ13-1", "uniprot_id": [ { "id": "WDR72_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3MJ13", "type": "external" } ], "mass": 123425.0, "length": 1102, "protein_name": "WD repeat-containing protein 72", "gene_name": "WDR72", "organism": "Human", "refseq_name": "WD repeat-containing protein 72 isoform a", "refseq_ac": [ { "id": "NP_877435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_877435", "type": "external" } ], "gene_names_uniprotkb": "WDR72", "gene_names_refseq": "AI2A3; WDR72", "protein_names_uniprotkb": "WD repeat-containing protein 72", "protein_names_refseq": "WD repeat-containing protein 72 isoform a; WD repeat-containing protein 72", "tax_id": 9606, "disease": "amelogenesis imperfecta hypomaturation type 2A3 (Disease Ontology:DOID:0110061)", "pathway": " (hsa:256764)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;19853237;19875614;20383146;20938048;21196691;25008349;26758079;29557506;29930882;30028003;30779877;32488085;34171305;34561969;35051231;35254053;35301423;36010968;37712743;38253038", "class_list": "", "function": "A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. WDR72 is a cytoplasmic protein that is critical for dental enamel formation., [RefSeq, PubMed]; Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth, [RefSeq, PubMed]; Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization. Publication Status: Online-Only, [RefSeq, PubMed]; Investigation of autosomal-recessive hypomaturation amelogenesis imperfecta (AI) in a consanguineous Pakistani family; a locus on chromosome 15q21.3 was identified; sequencing revealed a point mutation in the WDR72 gene, [RefSeq, PubMed]; Long non-coding RNA X-Inactive Specific Transcript (XIST) interacting with USF2 promotes osteogenic differentiation of periodontal ligament stem cells through regulation of WDR72 transcription., [RefSeq, PubMed]; 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]; Plays a major role in formation of tooth enamel (PubMed:19853237, PubMed:25008349). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane., [UniProtKB, PubMed, PubMed, UniProtKB]; Plays a major role in formation of tooth enamel. Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]., [RefSeq]; WDR72 mutations associated with dRTA have not been previously described. This is the first identification of pathogenic variations in WDR72 as a cause of hereditary dRTA., [RefSeq, PubMed]; WDR72 mutations cause a syndromic form of AI and improve our ability to diagnose AI caused by WDR72 defects, [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "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": "Q7Z3I3;Q8N8X2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0031214 biomineral tissue development", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q3MJ13-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2L5-1", "uniprot_id": [ { "id": "TPPC8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2L5", "type": "external" } ], "mass": 160997.0, "length": 1435, "protein_name": "Trafficking protein particle complex subunit 8", "gene_name": "TRAPPC8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAPPC8; KIAA1012", "gene_names_refseq": "", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 8; Protein TRS85 homolog", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:22878); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 236, "publication_id_list": "10818110;10990452;11038176;11179213;11230166;11237011;11516400;11689439;11703925;11746448;11784320;11805826;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15345747;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;16959974;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18083107;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18669648;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19651622;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21406692;21421921;21445324;21458671;21525244;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23839779;24275569;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25576301;25648148;25713415;25892735;25925668;26055712;26154972;26177209;26245486;26434594;26538022;26552660;26711178;26811146;26925400;26929215;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27846572;27862975;28904123;29437277;29493099;29557506;29671580;29741879;31217245;31844290;32095531;32157095;32265295;32350084;32387766;32502341;32938616;33141586;33298915;33717175;33912179;33968037;34171305;34509645;34932366;35051231;35580925;36010968;36241641;37217939;38838015;40307207;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Plays a role in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (PubMed:21525244). Maintains together with TBC1D14 the cycling pool of ATG9 required for initiation of autophagy (PubMed:26711178). Involved in collagen secretion (PubMed:32095531)., [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": 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": 31, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0JP15;B3KME5;Q9H0L2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:1990072 TRAPPIII protein complex;GO:0030008 TRAPP complex", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0048208 COPII vesicle coating;GO:0007030 Golgi organization;GO:0032964 collagen biosynthetic process;GO:0099022 vesicle tethering", "synthesized_glycan_count": 0, "hit_score": 24.5, "record_id": "Q9Y2L5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54136-1", "uniprot_id": [ { "id": "SYRC_HUMAN", "url": "https://www.uniprot.org/uniprot/P54136", "type": "external" } ], "mass": 75379.0, "length": 660, "protein_name": "Arginine--tRNA ligase, cytoplasmic", "gene_name": "RARS1", "organism": "Human", "refseq_name": "arginine--tRNA ligase, cytoplasmic", "refseq_ac": [ { "id": "NP_002878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002878", "type": "external" } ], "gene_names_uniprotkb": "RARS1; RARS", "gene_names_refseq": "ArgRS; DALRD1; HLD9; RARS1; RARS", "protein_names_uniprotkb": "Arginine--tRNA ligase, cytoplasmic; 6.1.1.19; ArgRS; Arginyl-tRNA synthetase", "protein_names_refseq": "arginine tRNA ligase 1, cytoplasmic; arginine--tRNA ligase, cytoplasmic; arginyl-tRNA synthetase, cytoplasmic", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy 9 (Disease Ontology:DOID:0060791)", "pathway": " (hsa:5917); (R-HSA-2408522); (R-HSA-379716); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 180, "publication_id_list": "10358004;10567402;10611221;10655586;10673502;10791971;11027551;11237011;11347887;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12665801;12690580;1373391;14660560;14671330;14975237;15118077;15226305;15507434;16014379;16034366;16055448;16429158;16430231;16661668;16661782;16822840;16906134;1698554;17443684;1748288;1761529;17623675;18644867;19131329;19289464;19413330;19524539;19608861;20068231;20460180;21486943;21965087;22223895;22647378;23159739;23190890;23207919;23301498;24366607;24656866;24777941;24859084;25248477;25288775;25418920;25595898;25645385;25802875;26758079;26811146;26853435;26992070;27128622;27600516;27846572;27920218;28063628;28228285;28394346;28649982;28832583;28834231;28904123;29242379;29295999;29393594;29493099;29508533;29557506;29632046;29786170;30315122;30397120;30429286;30484775;30779550;30804224;30833945;31154438;31217245;31530632;31814314;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32636443;32870666;32897882;32938616;33141586;33214551;33298915;33392160;33515434;33537174;33592498;33691108;33717175;33744299;33912179;33936100;33968037;33981976;34019948;34087483;34140478;34171305;34185709;34211107;34357683;34405274;34725712;34932366;35051231;35083852;35138101;35154160;35251023;35580925;36010968;36215666;36241641;36284347;36580660;37217939;37316325;37770430;37938771;38665916;40914422;4130389;5338216;6022858;656444;7118399;7590355;7654687;7958932;8052601;8078941;8188258;8336698;8428657;8449960;9199364;9278442;9353119;9421509;9431993;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]., [RefSeq]; Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease., [RefSeq, PubMed]; Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis (PubMed:25288775). Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1 (PubMed:17443684)., [UniProtKB, PubMed, PubMed]; RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum., [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": 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": "B2RBS9;Q53GY4;Q9BWA1", "ec_number_list": [ { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.1.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.12", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "6.1.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.18", "type": "external" }, { "id": "6.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.19", "type": "external" }, { "id": "6.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.10", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "6.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.6", "type": "external" }, { "id": "6.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0045296 cadherin binding;GO:0000049 tRNA binding;GO:0004814 arginine-tRNA ligase activity;GO:0034618 arginine binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006418 tRNA aminoacylation for protein translation;GO:0006420 arginyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 18.3, "record_id": "P54136-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3S4-1", "uniprot_id": [ { "id": "TPK1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3S4", "type": "external" } ], "mass": 27265.0, "length": 243, "protein_name": "Thiamine pyrophosphokinase 1", "gene_name": "TPK1", "organism": "Human", "refseq_name": "thiamine pyrophosphokinase 1 isoform b", "refseq_ac": [ { "id": "NP_001035947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035947", "type": "external" } ], "gene_names_uniprotkb": "TPK1", "gene_names_refseq": "HTPK1; PP20; THMD5; TPK1", "protein_names_uniprotkb": "Thiamine pyrophosphokinase 1; 2.7.6.-; PP20; Placental protein 20; Thiamin pyrophosphokinase 1; hTPK1", "protein_names_refseq": "placental protein 20; thiamine diphosphokinase; thiamine kinase; thiamine pyrophosphokinase 1 isoform b", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162); inherited metabolic disorder (Disease Ontology:DOID:655); childhood encephalopathy due to thiamine pyrophosphokinase deficiency (MONDO:MONDO:0013761)", "pathway": " (hsa:27010); (R-HSA-196819)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10391221;10391222;10391223;11237011;11342111;11342117;11827967;14615284;15664409;16371350;16705148;16790503;18280798;20068231;20583149;22152682;26811146;26992070;27600516;28218747;28834231;29393594;29437277;29632046;30429286;32157095;32361878;33031988;33912179;34244791;35051231;35580925;36215666;38547260", "class_list": "", "function": "Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate (TPP) utilizing UTP and therefore links the biosynthesis of TPP to pyrimidines metabolism (PubMed:38547260). By producing thiamine pyrophosphate, a cofactor of the mitochondrial pyruvate dehydrogenase indirectly regulates pyruvate oxidation and lipogenesis (PubMed:38547260). Although it can also catalyze thiamine phosphorylation using ATP and CTP in vitro, it does so with significantly lower efficiency and without physiological relevance evidence (PubMed:11342111, PubMed:38547260)., [UniProtKB, PubMed, PubMed]; Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype., [RefSeq, PubMed]; The conserved Tpk1 regulates non-homologous end joining double-strand break repair by phosphorylation of Nej1, a homolog of the human XLF., [RefSeq, PubMed]; The protein encoded by this gene functions as a homodimer and catalyzes the conversion of thiamine to thiamine pyrophosphate, a cofactor for some enzymes of the glycolytic and energy production pathways. Defects in this gene are a cause of thiamine metabolism dysfunction syndrome-5. [provided by RefSeq, Apr 2017]., [RefSeq]; Whole Exome Sequencing Identifies a Novel Mutation of TPK1 in a Chinese Family with Recurrent Ataxia., [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": 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": "A8K0T7;D3DWG0;I6L9B8;Q6NUR5;Q9H602", "ec_number_list": [ { "id": "2.7.6.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.6.-", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016301 kinase activity;GO:0004788 thiamine diphosphokinase activity;GO:0030975 thiamine binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0009229 thiamine diphosphate biosynthetic process;GO:0006772 thiamine metabolic process;GO:0010510 regulation of pyruvate decarboxylation to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9H3S4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IX01-1", "uniprot_id": [ { "id": "SUGP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IX01", "type": "external" } ], "mass": 120207.0, "length": 1082, "protein_name": "SURP and G-patch domain-containing protein 2", "gene_name": "SUGP2", "organism": "Human", "refseq_name": "SURP and G-patch domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001017392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017392", "type": "external" } ], "gene_names_uniprotkb": "SUGP2; KIAA0365; SFRS14", "gene_names_refseq": "SFRS14; SRFS14; SUGP2", "protein_names_uniprotkb": "SURP and G-patch domain-containing protein 2; Arginine/serine-rich-splicing factor 14; Splicing factor, arginine/serine-rich 14", "protein_names_refseq": "SURP and G-patch domain-containing protein 2 isoform 1; SURP and G-patch domain-containing protein 2; arginine/serine-rich-splicing factor 14; splicing factor, arginine/serine-rich 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:10147)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "11237011;12594045;15302935;16565220;17525332;18077418;18452278;18669648;19413330;19651622;20068231;23186163;23301498;23481700;24275569;24715725;25576301;25645385;26154972;26992070;27600516;27846572;28218747;28832583;28834231;28904123;29237092;29242379;29331515;29351928;29437277;29493099;29508533;29557506;30315122;30379171;30410026;30429286;30524438;30620550;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34357683;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36284347;37938771;40596516", "class_list": "", "function": "May play a role in mRNA splicing., [UniProtKB]; This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [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": 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "C9JI71;O15071;O60369;Q5JPH7;Q8WUF7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0016604 nuclear body;GO:0005634 nucleus", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q8IX01-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4U5-1", "uniprot_id": [ { "id": "T11L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4U5", "type": "external" } ], "mass": 58091.0, "length": 519, "protein_name": "T-complex protein 11-like protein 2", "gene_name": "TCP11L2", "organism": "Human", "refseq_name": "T-complex protein 11-like protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001273191", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273191", "type": "external" } ], "gene_names_uniprotkb": "TCP11L2", "gene_names_refseq": "TCP11L2", "protein_names_uniprotkb": "T-complex protein 11-like protein 2", "protein_names_refseq": "T-complex protein 11-like protein 2 isoform 2; T-complex protein 11-like protein 2; t-complex 11, testis-specific-like 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:255394)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;23481700;24715725;25576301;26992070;27600516;27862975;28228285;28832583;28834231;29242379;29393594;29493099;29557506;29632711;30429286;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33123756;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;35051231;35580925;36010968;36241641;36284347", "class_list": "", "function": "Promotes the migration of muscle-derived satellite cells (MDSCs) during differentiation throught interaction with FMNL2 and therefore may participate in microfilament assembly., [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": 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": "B2RA65;G3V1Y9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0016607 nuclear speck", "go_biological_process": "GO:0007165 signal transduction;GO:0014812 muscle cell migration", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8N4U5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969E2-1", "uniprot_id": [ { "id": "SCAM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969E2", "type": "external" } ], "mass": 25728.0, "length": 229, "protein_name": "Secretory carrier-associated membrane protein 4", "gene_name": "SCAMP4", "organism": "Human", "refseq_name": "secretory carrier-associated membrane protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001316468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316468", "type": "external" } ], "gene_names_uniprotkb": "SCAMP4", "gene_names_refseq": "SCAMP-4; SCAMP4", "protein_names_uniprotkb": "Secretory carrier-associated membrane protein 4; Secretory carrier membrane protein 4", "protein_names_refseq": "secretory carrier-associated membrane protein 4 isoform 2; secretory carrier-associated membrane protein 4", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:113178)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;23186163;27846572;28228285;28510447;28834231;28904123;29557506;29967290;30315122;31844290;32161166;32357974;32938616;33298915;33968037;34171305;34357683;34561969;34725712;39894887", "class_list": "", "function": "Probably involved in membrane protein trafficking., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Secretory carrier membrane protein 4 (SCAMP4) levels were strikingly elevated on the surface of senescent cells compared with proliferating cells, [RefSeq, PubMed]; Secretory carrier membrane proteins (SCAMPs) are widely distributed integral membrane proteins implicated in membrane trafficking. Most SCAMPs (e.g., SCAMP1; MIM 606911) have N-terminal cytoplasmic NPF (arg-pro-phe) repeats, 4 central transmembrane regions, and a short C-terminal cytoplasmic tail. These SCAMPs likely have a role in endocytosis that is mediated by their NPF repeats. Other SCAMPs, such as SCAMP4, lack the NPF repeats and are therefore unlikely to function in endocytosis (summary by Fernandez-Chacon and Sudhof, 2000 [PubMed 11050114]).[supplied by OMIM, 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": 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": "Q8N2N1;Q8NAV0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0032588 trans-Golgi network membrane;GO:0055038 recycling endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q969E2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52888-1", "uniprot_id": [ { "id": "THOP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P52888", "type": "external" } ], "mass": 78840.0, "length": 689, "protein_name": "Thimet oligopeptidase", "gene_name": "THOP1", "organism": "Human", "refseq_name": "thimet oligopeptidase", "refseq_ac": [ { "id": "NP_003240", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003240", "type": "external" } ], "gene_names_uniprotkb": "THOP1", "gene_names_refseq": "EP24.15; MEPD_HUMAN; MP78; THOP1; TOP", "protein_names_uniprotkb": "Thimet oligopeptidase; 3.4.24.15; Endopeptidase 24.15; MP78", "protein_names_refseq": "endopeptidase 24.15; thimet oligopeptidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:7064); (R-HSA-983168)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10969067;11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17251185;18662542;19028597;19352404;19452197;19489725;19608861;19851334;19874575;19940261;20068231;2261476;23186163;23301498;25576301;25645385;26992070;27543614;27600516;27846572;27920218;28063628;28148290;28218747;28228285;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;29769354;29786170;30315122;30379171;30410026;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33968037;34171305;34185709;34229054;34509645;34932366;35051231;35138101;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36997147;37938771;38665916;7639763;8286339;9380723;9668046", "class_list": "", "function": "Data suggest that three new candidate genes involved in the development of rheumatoid arthritis (RA): ERBB2, TP53 and THOP1. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of thimet oligopeptidase (THOP) modulated by oxidative stress in human multidrug resistant (MDR) leukemia cells., [RefSeq, PubMed]; Involved in the metabolism of neuropeptides under 20 amino acid residues long. Involved in cytoplasmic peptide degradation (PubMed:17251185, PubMed:7639763). Able to degrade the amyloid-beta precursor protein and generate amyloidogenic fragments (PubMed:17251185, PubMed:7639763). Also acts as a regulator of cannabinoid signaling pathway by mediating degradation of hemopressin, an antagonist peptide of the cannabinoid receptor CNR1 (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 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": 8, "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": "B3KSE2;Q9UCB3", "ec_number_list": [ { "id": "3.4.24.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.15", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0000209 protein polyubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P52888-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMS9-1", "uniprot_id": [ { "id": "TMIG3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMS9", "type": "external" } ], "mass": 30327.0, "length": 266, "protein_name": "Transmembrane domain-containing protein TMIGD3", "gene_name": "TMIGD3", "organism": "Human", "refseq_name": "transmembrane and immunoglobulin domain containing 3 isoform 3", "refseq_ac": [ { "id": "NP_001075445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075445", "type": "external" } ], "gene_names_uniprotkb": "TMIGD3; PRO4406", "gene_names_refseq": "AD026; TMIGD3", "protein_names_uniprotkb": "Transmembrane domain-containing protein TMIGD3", "protein_names_refseq": "AD026 protein (AD026); transmembrane and immunoglobulin domain containing 3 isoform 3; transmembrane domain-containing protein TMIGD3", "tax_id": 9606, "disease": "", "pathway": " (hsa:57413)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;12975309;27886186;30410026", "class_list": "", "function": "Plays a suppressive role in osteosarcoma malignancy by inhibiting NF-kappa-B activity (PubMed:27886186)., [UniProtKB, PubMed]; Protein expression of TMIGD3 and A3AR is lower in human osteosarcoma tissues than normal tissues. Mechanistically, TMIGD3 isoform 1 and A3AR commonly inhibit the PKA-Akt-NF-kappaB axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 5' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:140), thus resulting in a fusion product. [provided by RefSeq, Nov 2014]., [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": 14, "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": "A2A3P4;P33765;Q5QNY7;Q6P2N6;Q6UWU0;Q9BYZ1", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007165 signal transduction;GO:0007190 activation of adenylate cyclase activity;GO:0008285 negative regulation of cell population proliferation;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0DMS9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2R7-1", "uniprot_id": [ { "id": "SUCB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2R7", "type": "external" } ], "mass": 50317.0, "length": 463, "protein_name": "Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial", "gene_name": "SUCLA2", "organism": "Human", "refseq_name": "succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial precursor", "refseq_ac": [ { "id": "NP_003841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003841", "type": "external" } ], "gene_names_uniprotkb": "SUCLA2", "gene_names_refseq": "A-BETA; A-SCS; LINC00444; MTDPS5; SCS-betaA; SUCLA2", "protein_names_uniprotkb": "Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial; 6.2.1.-; 6.2.1.5; 6.2.1.9; A-SCS; ATP-specific succinyl-CoA synthetase subunit beta; Itaconyl--CoA ligase [ADP-forming] subunit beta; Malyl--CoA ligase [ADP-forming] subunit beta; SCS-betaA; Succinyl-CoA synthetase beta-A chain", "protein_names_refseq": "ATP-specific succinyl-CoA synthetase subunit beta; ATP-specific succinyl-CoA synthetase, beta subunit; itaconyl--CoA ligase [ADP-forming] subunit beta; long intergenic non-protein coding RNA 444; malyl--CoA ligase [ADP-forming] subunit beta; mitochondrial succinyl-CoA ligase [ADP-forming] subunit beta; renal carcinoma antigen NY-REN-39; succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial precursor; succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial; succinate-CoA ligase ADP-forming beta subunit; succinate-CoA ligase beta subunit; succinyl-CoA ligase [ADP-forming] subunit beta, mitochondrial; succinyl-CoA synthetase beta-A chain", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 5 (Disease Ontology:DOID:0080124)", "pathway": " (hsa:8803); (R-HSA-71403)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "10508479;1052766;10673423;10727444;11237011;11278619;12207025;13181903;14249115;14555658;14643893;14832224;14946179;15234968;15592455;15652751;15877282;15987702;16143825;16737955;16740313;17182618;17287286;17301081;17432878;17668387;18806796;18914071;1946331;19608861;2005110;20068231;20435888;20847235;23481700;23564345;23747254;23759946;24715725;25418920;25564869;25576301;25892735;26992070;27189937;27374498;28063628;28218747;28228285;28510447;28887308;28904123;29242379;29437277;29493099;29557506;29632046;29769354;30315122;30410026;30429286;30761759;30844107;31217245;31530632;31844290;31848261;32119511;32157095;32161166;32387766;32938616;32983136;33058874;33141586;33230181;33231368;33537174;33717175;33912179;33968037;33991485;34087483;34211107;34357683;34405274;34492704;34509645;34561969;34725712;35051231;35366151;36139014;36241641;36284347;36420423;38665916;40108300;40914422;8200987;8616157;9765290;9765291;9792106;9792662;9809442", "class_list": "", "function": "ATP-specific succinyl-CoA synthetase functions in the citric acid cycle (TCA), coupling the hydrolysis of succinyl-CoA to the synthesis of ATP and thus represents the only step of substrate-level phosphorylation in the TCA (PubMed:15877282, PubMed:34492704, PubMed:40108300). The beta subunit provides nucleotide specificity of the enzyme and binds the substrate succinate, while the binding sites for coenzyme A and phosphate are found in the alpha subunit (By similarity). Also able to act as an ATP-specific itaconyl- and malyl-CoA synthetase (PubMed:40108300)., [UniProtKB, HAMAP, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome., [RefSeq, PubMed]; SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease. Publication Status: Online-Only, [RefSeq, PubMed]; SUCLA2-coupled regulation of GLS succinylation and activity counteracts oxidative stress in tumor cells., [RefSeq, PubMed]; Succinyl-CoA synthetase (SCS) is a mitochondrial matrix enzyme that acts as a heterodimer, being composed of an invariant alpha subunit and a substrate-specific beta subunit. The protein encoded by this gene is an ATP-specific SCS beta subunit that dimerizes with the SCS alpha subunit to form SCS-A, an essential component of the tricarboxylic acid cycle. SCS-A hydrolyzes ATP to convert succinate to succinyl-CoA. Defects in this gene are a cause of myopathic mitochondrial DNA depletion syndrome. A pseudogene of this gene has been found on chromosome 6. [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": 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": "B2RDE7;O95194;Q5T9Q4;Q5T9Q6;Q9NV21;Q9NVP7", "ec_number_list": [ { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.4", "type": "external" }, { "id": "6.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.5", "type": "external" }, { "id": "6.2.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.9", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0005524 ATP binding;GO:0004775 succinate-CoA ligase (ADP-forming) activity;GO:0050074 malate-CoA ligase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0070062 extracellular exosome;GO:1902494 catalytic complex;GO:0042709 succinate-CoA ligase complex", "go_biological_process": "GO:0006099 tricarboxylic acid cycle;GO:0006104 succinyl-CoA metabolic process;GO:0006105 succinate metabolic process;GO:0006781 succinyl-CoA pathway;GO:0006108 malate metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q9P2R7-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A5PLN9-1", "uniprot_id": [ { "id": "TPC13_HUMAN", "url": "https://www.uniprot.org/uniprot/A5PLN9", "type": "external" } ], "mass": 46524.0, "length": 417, "protein_name": "Trafficking protein particle complex subunit 13", "gene_name": "TRAPPC13", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 13 isoform 1", "refseq_ac": [ { "id": "NP_001087224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001087224", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC13; C5orf44", "gene_names_refseq": "C5orf44; TRAPPC13", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 13", "protein_names_refseq": "REV7-interacting novel NHEJ regulator 1; Trs65-related; UPF0533 protein C5orf44; trafficking protein particle complex 13; trafficking protein particle complex subunit 13 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80006); (R-HSA-8876198)", "pathway_count": 2, "publication_count": 211, "publication_id_list": "10818110;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16410077;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17132146;17189207;17208202;17239822;17287728;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19620288;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21453443;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23301498;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24296415;24644286;24694596;24714562;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25648148;25713415;25880248;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27920218;28536105;28832583;28904123;29242379;29769354;30315122;30484775;31844290;32157095;32357974;32938616;33298915;33592498;33717175;33912179;33968037;34229011;35051231;36010968;36215666;36241641;37938771;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "Component of the multisubunit TRAPP (transport protein particle) III complex (PubMed:28536105, PubMed:34229011). As a component of TRAPPIII complex, participates in the activation of RAB1 and RAB43, but not RAB11A, RAB11B, nor RAB19 (PubMed:28536105, PubMed:34229011)., [UniProtKB, PubMed, PubMed]; Results lend support for the existence of a mammalian TRAPPIII complex containing TRAPPC13, which is important for autophagic flux under certain stress conditions., [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": "Q17RZ9;Q49A23;Q4JHG0;Q6MZG4;Q8TCM2;Q9H8I3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:1990072 TRAPPIII protein complex", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006901 vesicle coating;GO:0099022 vesicle tethering", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "A5PLN9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H269-1", "uniprot_id": [ { "id": "VPS16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H269", "type": "external" } ], "mass": 94694.0, "length": 839, "protein_name": "Vacuolar protein sorting-associated protein 16 homolog", "gene_name": "VPS16", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 16 homolog isoform 1", "refseq_ac": [ { "id": "NP_072097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072097", "type": "external" } ], "gene_names_uniprotkb": "VPS16", "gene_names_refseq": "DYT30; VPS16; hVPS16", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 16 homolog; hVPS16", "protein_names_refseq": "VPS16, CORVET/HOPS core subunit; vacuolar protein sorting 16 homolog; vacuolar protein sorting protein 16; vacuolar protein sorting-associated protein 16 homolog isoform 1; vacuolar protein sorting-associated protein 16 homolog", "tax_id": 9606, "disease": "dystonia 30 (Disease Ontology:DOID:0060937); lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:64601); (R-HSA-9754560)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "11237011;11250079;11382755;17897319;18552835;20112406;20434987;21802320;22645359;23351085;23481700;23901104;24366607;24554770;24714562;24715725;25266290;25418920;25576301;25645385;25783203;25880248;25892735;26024233;26154972;26375851;26728094;26811146;26929215;26992070;27174565;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32808683;32897882;32938616;32983136;33141586;33298915;33422265;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33947832;33966045;33968037;33981976;34087483;34171305;34211107;34386498;34405274;34509645;34561969;35051231;35318648;35367832;35580925;36010968;36241641;36284347;36581221;37124933;38291845;38665916", "class_list": "", "function": "Bioinformatics Analysis of the Prognostic Significance of VPS16 in Hepatocellular Carcinoma and Its Role in Drug Screening. Publication Status: Online-Only, [RefSeq, PubMed]; Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia., [RefSeq, PubMed]; Overexpression of VPS16 correlates with tumor progression and chemoresistance in colorectal cancer., [RefSeq, PubMed]; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:11382755, PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for recruitment of VPS33A to the HOPS complex (PubMed:23901104). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS33A but not VPS33B (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 8, "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": "Q5JUB1;Q8WU31;Q96EE7;Q96N92;Q9H1Q4;Q9H1Q5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0051015 actin filament binding", "go_cellular_component": "GO:0030897 HOPS complex;GO:0005768 endosome;GO:0005769 early endosome;GO:0030424 axon;GO:0043025 neuronal cell body", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0035542 regulation of SNARE complex assembly;GO:0042144 vacuole fusion, non-autophagic;GO:0006886 intracellular protein transport;GO:0008333 endosome to lysosome transport", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9H269-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6R2W3-1", "uniprot_id": [ { "id": "SCND3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6R2W3", "type": "external" } ], "mass": 151666.0, "length": 1325, "protein_name": "SCAN domain-containing protein 3", "gene_name": "SCAND3", "organism": "Human", "refseq_name": "SCAN domain-containing protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001316545", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316545", "type": "external" } ], "gene_names_uniprotkb": "SCAND3; Buster4; KIAA1925; ZBED9; ZNF305P2; ZNF452", "gene_names_refseq": "Buster4; FAM200D; SCAND3; ZBED9; ZFP38-L; ZNF305P2; ZNF452; dJ1186N24.3", "protein_names_uniprotkb": "SCAN domain-containing protein 3; Transposon-derived Buster4 transposase-like protein; Zinc finger BED domain-containing protein 9", "protein_names_refseq": "SCAN domain-containing protein 3 isoform 2; SCAN domain-containing protein 3; transposon-derived Buster4 transposase-like protein; zinc finger BED domain-containing protein 9; zinc finger BED-type containing 9; zinc finger protein 305 pseudogene 2; zinc finger protein 452", "tax_id": 9606, "disease": "", "pathway": " (hsa:114821)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;23481700;23533661;27846572;28218747;28418919;28832583;29242379;29351928;29557506;29671580;29789417;30315122;30779550;30833945;31217245;31844290;32157095;32350084;32357974;32502341;32938616;33141586;34083597;34171305;35051231;35577038;36284347", "class_list": "", "function": "Genome-wide association study on blood pressure traits in the Iranian population suggests ZBED9 as a new locus for hypertension. Publication Status: Online-Only, [RefSeq, PubMed]; The AGT epistasis pattern proposed a novel role for ZBED9 in regulating blood pressure: Tehran Cardiometabolic genetic study (TCGS)., [RefSeq, PubMed]; The present study indicated that ZNF452 may be an upstream regulator of AKT-GSK3beta signaling pathway and facilitates proliferation and invasion of 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": 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": 40, "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": "Q2NKL9;Q5SRJ3;Q8TCN2;Q96MV9;Q96PW3", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0045787 positive regulation of cell cycle;GO:0050679 positive regulation of epithelial cell proliferation;GO:0015074 DNA integration", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q6R2W3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0PJX2-1", "uniprot_id": [ { "id": "TLDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0PJX2", "type": "external" } ], "mass": 23912.0, "length": 215, "protein_name": "TLD domain-containing protein 2", "gene_name": "TLDC2", "organism": "Human", "refseq_name": "TLD domain-containing protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001291712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291712", "type": "external" } ], "gene_names_uniprotkb": "TLDC2", "gene_names_refseq": "C20orf118; TLDC2", "protein_names_uniprotkb": "TLD domain-containing protein 2; TBC/LysM-associated domain-containing protein 2", "protein_names_refseq": "TBC/LysM-associated domain-containing protein 2; TLD domain-containing protein 2 isoform 2; TLD domain-containing protein 2", "tax_id": 9606, "disease": "cerebellar hyplasia/atrophy, epilepsy, and global developmental delay (Disease Ontology:DOID:0070339)", "pathway": " (hsa:140711)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;38593795", "class_list": "", "function": "Inhibits the activity of the vacuolar-type ATPase (V-ATPase) by inducing disassembly of the V-ATPase complex (PubMed:38593795). Protects neuronal cells against oxidative stress (By similarity). Required for kidney bicarbonate secretion (By similarity)., [UniProtKB, PubMed, 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": 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": "B3KVU8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006979 response to oxidative stress", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0PJX2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VDI3-1", "uniprot_id": [ { "id": "TM267_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VDI3", "type": "external" } ], "mass": 24217.0, "length": 215, "protein_name": "Transmembrane protein 267", "gene_name": "TMEM267", "organism": "Human", "refseq_name": "transmembrane protein 267", "refseq_ac": [ { "id": "NP_071928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071928", "type": "external" } ], "gene_names_uniprotkb": "TMEM267; C5orf28", "gene_names_refseq": "C5orf28; TMEM267", "protein_names_uniprotkb": "Transmembrane protein 267", "protein_names_refseq": "transmembrane protein 267; transmembrane protein C5orf28", "tax_id": 9606, "disease": "", "pathway": " (hsa:64417)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;28514659;29557506;32938616;33968037;34405274", "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": "B2RDA6;Q9H6Z2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q0VDI3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PDA7-1", "uniprot_id": [ { "id": "SG11A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PDA7", "type": "external" } ], "mass": 13842.0, "length": 123, "protein_name": "Sperm-associated antigen 11A", "gene_name": "SPAG11A", "organism": "Human", "refseq_name": "sperm-associated antigen 11A isoform 1 precursor", "refseq_ac": [ { "id": "NP_001075021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001075021", "type": "external" } ], "gene_names_uniprotkb": "SPAG11A; BIN1B; EP2; HE2", "gene_names_refseq": "EDDM2A; HE2; SPAG11A", "protein_names_uniprotkb": "Sperm-associated antigen 11A; Antimicrobial-like protein Bin-1b; He2; Human epididymis-specific protein 2; Protein EP2; Sperm antigen HE2", "protein_names_refseq": "antimicrobial-like protein Bin-1b; epididymal protein 2A; human epididymis-specific protein 2; sperm antigen HE2; sperm-associated antigen 11A isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:653423)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "10698202;11259252", "class_list": "", "function": "Has antimicrobial activity against E.coli (By similarity). Plays a role in the defense response in the male reproductive tract, contributing to sperm maturation, storage and protection (By similarity)., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NIY0;E9PAK7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0042742 defense response to bacterium", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q6PDA7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0I4-1", "uniprot_id": [ { "id": "THS7B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0I4", "type": "external" } ], "mass": 179199.0, "length": 1606, "protein_name": "Thrombospondin type-1 domain-containing protein 7B", "gene_name": "THSD7B", "organism": "Human", "refseq_name": "thrombospondin type-1 domain-containing protein 7B precursor", "refseq_ac": [ { "id": "NP_001303278", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303278", "type": "external" } ], "gene_names_uniprotkb": "THSD7B; KIAA1679", "gene_names_refseq": "THSD7B", "protein_names_uniprotkb": "Thrombospondin type-1 domain-containing protein 7B", "protein_names_refseq": "thrombospondin type-1 domain-containing protein 7B precursor; thrombospondin type-1 domain-containing protein 7B; thrombospondin, type I, domain containing 7B", "tax_id": 9606, "disease": "", "pathway": " (hsa:80731); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 14, "publication_id_list": "11067851;11237011;16464858;18720094;19796186;21703634;22588082;23889335;25544610;29393594;29632046;29769354;32387766;35685767", "class_list": "", "function": "Several flanking SNPs of the top hits in the meta-analysis demonstrated borderline associations with alcohol dependence in the family sample for KIAA0040, NRD1 and THSD7B, respectively., [RefSeq, PubMed]; THSD7B Mutation Induces Platinum Resistance in Small Cell Lung Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 12, "predicted_n_glycosites": 11, "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": 89, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "E7EM75", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9C0I4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ34-1", "uniprot_id": [ { "id": "TMM9B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ34", "type": "external" } ], "mass": 22531.0, "length": 198, "protein_name": "Transmembrane protein 9B", "gene_name": "TMEM9B", "organism": "Human", "refseq_name": "transmembrane protein 9B isoform b", "refseq_ac": [ { "id": "NP_001273023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273023", "type": "external" } ], "gene_names_uniprotkb": "TMEM9B; C11orf15; PRO1375", "gene_names_refseq": "C11orf15; TMEM9B", "protein_names_uniprotkb": "Transmembrane protein 9B", "protein_names_refseq": "transmembrane protein 9B isoform b; transmembrane protein 9B", "tax_id": 9606, "disease": "", "pathway": " (hsa:56674)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;11528127;12975309;15340161;18541524;20230923;20951001;22424782;23186163;23481700;23555621;24190977;24715725;25576301;25645385;26375851;26758079;26992070;27397612;27600516;27846572;27862975;28228285;28832583;28855257;28904123;29393594;29557506;29769354;29786170;30315122;30429286;30524438;30779550;31154438;31222486;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35251023;35318648;35580925;36010968;36215666;36241641;37938771;39894887", "class_list": "", "function": "Enhances production of pro-inflammatory cytokines induced by TNF, IL1B, and TLR ligands. Has a role in TNF activation of both the NF-kappaB and MAPK pathways., [UniProtKB, PubMed]; Transmembrane protein 9B was identified as a putative antigenic target in Wegener's granulomatosis, [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": 0, "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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z649", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9NQ34-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17600-1", "uniprot_id": [ { "id": "SYN1_HUMAN", "url": "https://www.uniprot.org/uniprot/P17600", "type": "external" } ], "mass": 74111.0, "length": 705, "protein_name": "Synapsin-1", "gene_name": "SYN1", "organism": "Human", "refseq_name": "synapsin-1 isoform Ia", "refseq_ac": [ { "id": "NP_008881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008881", "type": "external" } ], "gene_names_uniprotkb": "SYN1", "gene_names_refseq": "EPILX1; EPILX; MRX50; SYN1a; SYN1b; SYN1; SYNI", "protein_names_uniprotkb": "Synapsin-1; Brain protein 4.1; Synapsin I", "protein_names_refseq": "brain protein 4.1; synapsin Ib; synapsin-1 isoform Ia; synapsin-1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); non-syndromic X-linked intellectual disability 50 (Disease Ontology:DOID:0112029); X-linked epilepsy with variable learning disabilities and behavior disorders (Disease Ontology:DOID:0112122); major depressive disorder (Disease Ontology:DOID:1470)", "pathway": " (hsa:6853); (R-HSA-181429); (R-HSA-212676); (R-HSA-9662360)", "pathway_count": 4, "publication_count": 51, "publication_id_list": "10025409;10571231;10880969;11163272;11237011;12237306;12519779;14985377;15345747;15822905;15935055;17478680;17891149;17989281;18617632;20530578;2110562;2118519;21406692;21441247;23363473;23406870;24366607;24714562;25576301;27920218;28657654;2892215;28973667;29393594;29557506;31154438;3118371;31844290;32387766;33431828;33774037;33912179;34243774;34357683;35051231;35876881;36693418;37938771;7823026;8022798;8622996;8702879;9395448;9701566;9753324", "class_list": "", "function": "An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD., [RefSeq, PubMed]; Cooperative function of synaptophysin and synapsin in the generation of synaptic vesicle-like clusters in non-neuronal cells. Publication Status: Online-Only, [RefSeq, PubMed]; Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients. Publication Status: Online-Only, [RefSeq, PubMed]; Neuronal phosphoprotein that coats synaptic vesicles, and binds to the cytoskeleton. Acts as a regulator of synaptic vesicles trafficking, involved in the control of neurotransmitter release at the pre-synaptic terminal (PubMed:21441247, PubMed:23406870). Also involved in the regulation of axon outgrowth and synaptogenesis (By similarity). The complex formed with NOS1 and CAPON proteins is necessary for specific nitric-oxid functions at a presynaptic level (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate., [RefSeq, PubMed]; Synapsin Condensates Recruit alpha-Synuclein., [RefSeq, PubMed]; This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family plays a role in regulation of axonogenesis and synaptogenesis. The protein encoded serves as a substrate for several different protein kinases and phosphorylation may function in the regulation of this protein in the nerve terminal. Mutations in this gene may be associated with X-linked disorders with primary neuronal degeneration such as Rett syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 0, "predicted_o_glycosites": 9, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 34, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B1AJQ1;O75825;Q5H9A9", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005524 ATP binding;GO:0019901 protein kinase binding;GO:0042802 identical protein binding;GO:0048306 calcium-dependent protein binding", "go_cellular_component": "GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0005794 Golgi apparatus;GO:0005856 cytoskeleton;GO:0014069 postsynaptic density;GO:0030424 axon", "go_biological_process": "GO:0097091 synaptic vesicle clustering;GO:0050808 synapse organization;GO:0007268 chemical synaptic transmission;GO:0046928 regulation of neurotransmitter secretion;GO:0007269 neurotransmitter secretion", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "P17600-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDD5-1", "uniprot_id": [ { "id": "SYN1L_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDD5", "type": "external" } ], "mass": 25796.0, "length": 238, "protein_name": "Synapse differentiation-inducing gene protein 1-like", "gene_name": "SYNDIG1L", "organism": "Human", "refseq_name": "synapse differentiation-inducing gene protein 1-like", "refseq_ac": [ { "id": "NP_001099049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099049", "type": "external" } ], "gene_names_uniprotkb": "SYNDIG1L; TMEM90A", "gene_names_refseq": "CAPUCIN; DSPC1; IFITMD4; SYNDIG1L; SynDIG2; TMEM90A", "protein_names_uniprotkb": "Synapse differentiation-inducing gene protein 1-like; Capucin; DSPC1; Dispanin subfamily C member 1; Transmembrane protein 90A", "protein_names_refseq": "caudate- and putamen-enriched sequence; dispanin subfamily C member 1; interferon induced transmembrane protein domain containing 4; synapse differentiation-inducing gene protein 1-like; transmembrane protein 90A", "tax_id": 9606, "disease": "", "pathway": " (hsa:646658)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;16359841;22363774", "class_list": "", "function": "Cloning and characterization of the TMEM90A (capucin) ortholog in mouse., [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_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A6NDD5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C6A0-2", "uniprot_id": [ { "id": "ZGLP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C6A0", "type": "external" } ], "mass": 29695.0, "length": 273, "protein_name": "GATA-type zinc finger protein 1", "gene_name": "ZGLP1", "organism": "Human", "refseq_name": "GATA-type zinc finger protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001096637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001096637", "type": "external" } ], "gene_names_uniprotkb": "ZGLP1; GLP1", "gene_names_refseq": "GATAD3; GLP-1; GLP1; ZGLP1", "protein_names_uniprotkb": "GATA-type zinc finger protein 1; GATA-like protein 1; GLP-1", "protein_names_refseq": "GATA zinc finger domain containing 3; GATA-like protein 1; GATA-type zinc finger protein 1 isoform 1; GATA-type zinc finger protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100125288)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "16982049;26752550", "class_list": "", "function": "Characterization and functional analysis of the mouse GLP-1 ortholog, and comparison to the human protein., [RefSeq, PubMed]; There is minor contribution of endogenous GLP-1 and GLP-2 to postprandial lipemia in obese men. Publication Status: Online-Only, [RefSeq, PubMed]; Transcriptional regulator that plays a key role in germ cell development. Determines the oogenic fate by activating key genes for the oogenic program and meiotic prophase entry. Acts downstream of bone morphogenetic protein (BMP) by regulating expression of genes required for the oogenic programs, which are repressed by Polycomb activities in sexually uncommitted germ cells. Regulates expression of STRA8, a central downstream effector for the meiotic program. Acts independently of retinoic acid (RA). In males, not required for germ-cell sex determination, but required to allow the spermatogonia to efficiently accomplish the meiotic prophase., [UniProtKB, UniProtKB]; ZGLP1 encodes an evolutionary conserved transcriptional regulator with GATA-like zinc fingers. In females, it is expressed in embryonic germ cells and is essential for oogenic fate determination. It acts downstream of bone morphogenetic protein (BMP) and is involved in the regulation of genes involved in RNA processing, transcription and chromatin modification, retrotransposon regulation, meiotic cell cycle, and oocyte development. In males it is not required for the germ cell sex determination but is required by the spermatogonia for efficiently completing the meiotic prophase. [provided by RefSeq, Jul 2022]., [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": 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": "A0A9L9PXT6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion 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_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:0007283 spermatogenesis;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0C6A0-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y519-1", "uniprot_id": [ { "id": "T184B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y519", "type": "external" } ], "mass": 45562.0, "length": 407, "protein_name": "Transmembrane protein 184B", "gene_name": "TMEM184B", "organism": "Human", "refseq_name": "transmembrane protein 184B isoform a", "refseq_ac": [ { "id": "NP_001182000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182000", "type": "external" } ], "gene_names_uniprotkb": "TMEM184B; C22orf5; PSEC0108", "gene_names_refseq": "C22orf5; FM08; HS5O6A; HSPC256; SLC51C2; TMEM184B", "protein_names_uniprotkb": "Transmembrane protein 184B; Putative MAPK-activating protein FM08", "protein_names_refseq": "putative MAPK-activating protein FM08; transmembrane protein 184B isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:25829)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;12761501;16303743;17081983;18477386;18669648;18691976;19413330;19651622;19690332;20068231;21406692;24715725;25668004;28218747;29242379;29557506;32157095;32350084;32938616;33592498;33968037;34357683;35051231;35154160;36010968", "class_list": "", "function": "Data shows that miR-26a and miR-26b were significantly downregulated and their direct target, TMEM184B significantly up-regulated in oral squamous cell carcinoma cells., [RefSeq, PubMed]; May activate the MAP kinase signaling pathway., [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": 4, "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": "A8K9D7;Q63HM8;Q7Z421;Q8NBM5;Q9UGT8;Q9UGT9;Q9UGV5", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q9Y519-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52741-1", "uniprot_id": [ { "id": "ZN134_HUMAN", "url": "https://www.uniprot.org/uniprot/P52741", "type": "external" } ], "mass": 48480.0, "length": 427, "protein_name": "Zinc finger protein 134", "gene_name": "ZNF134", "organism": "Human", "refseq_name": "zinc finger protein 134", "refseq_ac": [ { "id": "NP_003426", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003426", "type": "external" } ], "gene_names_uniprotkb": "ZNF134", "gene_names_refseq": "ZNF134; pHZ-15", "protein_names_uniprotkb": "Zinc finger protein 134", "protein_names_refseq": "zinc finger protein 134 (clone pHZ-15); zinc finger protein 134", "tax_id": 9606, "disease": "", "pathway": " (hsa:7693)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;25576301;29557506;29769354;33141586;33968037;35580925;35705054;7557990", "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": 11, "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": "Q9Y4B2", "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_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P52741-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6J9-1", "uniprot_id": [ { "id": "TAF6L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6J9", "type": "external" } ], "mass": 67814.0, "length": 622, "protein_name": "TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L", "gene_name": "TAF6L", "organism": "Human", "refseq_name": "TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L", "refseq_ac": [ { "id": "NP_006464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006464", "type": "external" } ], "gene_names_uniprotkb": "TAF6L; PAF65A", "gene_names_refseq": "PAF65A; TAF6L", "protein_names_uniprotkb": "TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L; PAF65-alpha; PCAF-associated factor 65-alpha; TAF6L", "protein_names_refseq": "PAF65-alpha; PCAF-associated factor 65-alpha; TAF6-like RNA polymerase II p300/CBP-associated factor-associated factor 65 kDa subunit 6L; TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa; p300/CBP-associated factor (PCAF)-associated factor 65", "tax_id": 9606, "disease": "", "pathway": " (hsa:10629); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10786633;10821277;11237011;11564863;12601814;15313887;16387653;17525332;18381289;18452278;18623064;18714023;19187765;20018852;23186163;24129315;25418920;25576301;25645385;25880248;26154972;26992070;27846572;27862975;27920218;28218747;28228285;28514659;28832583;29242379;29393594;29437277;29508533;29557506;29632711;30315122;30429286;30524438;31217245;31844290;31937595;32157095;32161166;32357974;32387766;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33912179;33968037;34087483;34171305;34405274;34561969;34932366;35051231;35580925;36010968;36215666;36241641;37938771;9427644;9558366;9674419;9674425;9880483", "class_list": "", "function": "Functions as a component of the PCAF complex. The PCAF complex is capable of efficiently acetylating histones in a nucleosomal context. The PCAF complex could be considered as the human version of the yeast SAGA complex (Probable). With TAF5L, acts as an epigenetic regulator essential for somatic reprogramming. Regulates target genes through H3K9ac deposition and MYC recruitment which trigger MYC regulatory network to orchestrate gene expression programs to control embryonic stem cell state. Functions with MYC to activate target gene expression through RNA polymerase II pause release (By similarity)., [UniProtKB, UniProtKB, PubMed]; Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]; Protein kinase C betaII augments NF-kappaB-mediated TNF-alpha-induced transcription of the target gene CCL11, promoting p65 association with the CCL11 promoter, in human airway smooth muscle cells by phosphorylating p300/CBP-associated factor, [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": 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": "B2RAT0;Q96HA6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0046982 protein heterodimerization activity;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0070062 extracellular exosome;GO:0000118 histone deacetylase complex;GO:0005669 transcription factor TFIID complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9Y6J9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAQ9-1", "uniprot_id": [ { "id": "SUN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAQ9", "type": "external" } ], "mass": 40503.0, "length": 357, "protein_name": "SUN domain-containing protein 3", "gene_name": "SUN3", "organism": "Human", "refseq_name": "SUN domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001025190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025190", "type": "external" } ], "gene_names_uniprotkb": "SUN3; SUNC1", "gene_names_refseq": "SUN3; SUNC1", "protein_names_uniprotkb": "SUN domain-containing protein 3; Sad1/unc-84 domain-containing protein 1", "protein_names_refseq": "SUN domain-containing protein 3 isoform 1; SUN domain-containing protein 3; Sad1 and UNC84 domain containing 1; hypothetical protein MGC33329; sad1/unc-84 domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:256979)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;12498619;19193627;26244732;33968037;35051231", "class_list": "", "function": "As a probable component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex, involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. May be involved in nuclear remodeling during sperm head formation in spermatogenesis. A probable SUN3:SYNE1 LINC complex may tether spermatid nuclei to posterior cytoskeletal structures such as the manchette., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; CDNA of Macaca fascicularis used to identify a novel human gene, SUNC1., [RefSeq, PubMed]; 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": 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": "A4D2F3;B4DXK1;D3DVM3;E7EWC8;Q4F965;Q7Z4U8", "ec_number_list": [], "go_molecular_function": "GO:0043495 protein-membrane adaptor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005637 nuclear inner membrane;GO:0034993 meiotic nuclear membrane microtubule tethering complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8TAQ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16563-1", "uniprot_id": [ { "id": "SYPL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16563", "type": "external" } ], "mass": 28565.0, "length": 259, "protein_name": "Synaptophysin-like protein 1", "gene_name": "SYPL1", "organism": "Human", "refseq_name": "synaptophysin-like protein 1 isoform a", "refseq_ac": [ { "id": "NP_006745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006745", "type": "external" } ], "gene_names_uniprotkb": "SYPL1; SYPL", "gene_names_refseq": "H-SP1; SYPL1; SYPL", "protein_names_uniprotkb": "Synaptophysin-like protein 1; Pantophysin", "protein_names_refseq": "pantophysin; synaptophysin-like protein 1 isoform a; synaptophysin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6856)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081065;1730063;19159218;23090970;24190977;26374642;28228285;28510447;29557506;29632711;29741879;31154438;31844290;31848261;32157095;32357974;32387766;32502495;32938616;32983136;33298915;33592498;33691108;33912179;33936100;33968037;34357683;35051231;35218739;35254053;36010968;36215666;36241641;37074911;40596516;41018975;8034131", "class_list": "", "function": "Evaluation of fecal SYPL1 as a diagnostic biomarker in colorectal cancer., [RefSeq, PubMed]; Serum SYPL1 is a promising diagnostic biomarker for 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": 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": 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": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 64, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A4D0R2;Q96AR8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030141 secretory granule;GO:0070062 extracellular exosome;GO:0042470 melanosome", "go_biological_process": "GO:0007268 chemical synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q16563-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q24JP5-1", "uniprot_id": [ { "id": "T132A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q24JP5", "type": "external" } ], "mass": 110110.0, "length": 1023, "protein_name": "Transmembrane protein 132A", "gene_name": "TMEM132A", "organism": "Human", "refseq_name": "transmembrane protein 132A isoform a precursor", "refseq_ac": [ { "id": "NP_060340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060340", "type": "external" } ], "gene_names_uniprotkb": "TMEM132A; HSPA5BP1; KIAA1583", "gene_names_refseq": "GBP; HSPA5BP1; TMEM132A", "protein_names_uniprotkb": "Transmembrane protein 132A; HSPA5-binding protein 1", "protein_names_refseq": "GRP78-binding protein; HSPA5-binding protein 1; heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1; heat shock 70kDa protein 5 binding protein 1; transmembrane protein 132A isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:54972); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12514190;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;20187088;23090970;24190977;24714562;24715725;2476804;2479552;25502872;26091039;28218747;28467828;29242379;29331515;30410026;30429286;30459171;32350084;32938616;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34433824;34932366;35051231;35154160;35318648;35580925;36010968;36215666;36241641;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Describes characterization of the rat protein, [RefSeq, PubMed]; May play a role in embryonic and postnatal development of the brain. Increased resistance to cell death induced by serum starvation in cultured cells. Regulates cAMP-induced GFAP gene expression via STAT3 phosphorylation (By similarity)., [UniProtKB]; This gene encodes a protein that is highly similar to the rat Grp78-binding protein (GBP). Alternatively spliced transcript variants encoding different isoforms have been described. [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": 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": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q69YU7;Q86VZ8;Q86W97;Q9H8K3;Q9HCI9;Q9NWY0", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005788 endoplasmic reticulum lumen;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0030177 positive regulation of Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.3, "record_id": "Q24JP5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNR0-1", "uniprot_id": [ { "id": "TMM91_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNR0", "type": "external" } ], "mass": 18162.0, "length": 172, "protein_name": "Transmembrane protein 91", "gene_name": "TMEM91", "organism": "Human", "refseq_name": "transmembrane protein 91 isoform b", "refseq_ac": [ { "id": "NP_001036060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036060", "type": "external" } ], "gene_names_uniprotkb": "TMEM91", "gene_names_refseq": "DSPC3; IFITMD6; SynDIG3; TMEM91", "protein_names_uniprotkb": "Transmembrane protein 91; DSPC3; Dispanin subfamily C member 3", "protein_names_refseq": "dispanin subfamily C member 3; interferon induced transmembrane protein domain containing 6; transmembrane protein 91 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:641649)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;19913121;20628086;22363774;39894887;8889548", "class_list": "", "function": "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "C9J9D1;C9JZ62;C9K046;Q6P434", "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": "Q6ZNR0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14773-1", "uniprot_id": [ { "id": "TPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14773", "type": "external" } ], "mass": 61248.0, "length": 563, "protein_name": "Tripeptidyl-peptidase 1", "gene_name": "TPP1", "organism": "Human", "refseq_name": "tripeptidyl-peptidase 1 preproprotein", "refseq_ac": [ { "id": "NP_000382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382", "type": "external" } ], "gene_names_uniprotkb": "TPP1; CLN2; GIG1; PRO304", "gene_names_refseq": "CLN2; GIG1; LPIC; SCAR7; TPP-1; TPP1", "protein_names_uniprotkb": "Tripeptidyl-peptidase 1; 3.4.14.9; Cell growth-inhibiting gene 1 protein; LPIC; Lysosomal pepstatin-insensitive protease; TPP-1; TPP-I; Tripeptidyl aminopeptidase; Tripeptidyl-peptidase I", "protein_names_refseq": "cell growth-inhibiting gene 1 protein; growth-inhibiting protein 1; lysosomal pepstatin insensitive protease; lysosomal pepstatin-insensitive carboxypeptidase; tripeptidyl aminopeptidase; tripeptidyl peptidase I; tripeptidyl-peptidase 1 preproprotein", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 7 (Disease Ontology:DOID:0080059); neuronal ceroid lipofuscinosis 2 (Disease Ontology:DOID:0110726); primary hyperoxaluria type 1 (Disease Ontology:DOID:0111670); primary hyperoxaluria (Disease Ontology:DOID:2977)", "pathway": " (hsa:1200); (R-HSA-381038)", "pathway_count": 2, "publication_count": 130, "publication_id_list": "37639587;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10330339;10477428;10601334;10665500;10827079;11054422;11237011;11241479;11339651;11462245;11589012;12204115;12376936;12414822;12643545;12698559;12754519;12975309;14702339;14736728;15466936;16461360;16539657;16895480;17081065;17237713;18512783;18664523;19038966;19038967;19159218;19201763;19941651;20340139;21282569;21990111;22612257;23090970;23418007;24190977;25502872;25645385;25810538;25813380;26154972;26768311;26992070;27452731;27600516;27846572;28063628;28446606;28467828;28510447;28649982;28832583;28834231;28855257;28904123;29242379;29314611;29317506;29493099;29508533;29557506;29632046;29632711;29671580;29741879;29786170;30315122;30429286;30524438;30573663;30626607;30779550;31154438;31222486;31844290;31848261;31998317;32157095;32161166;32162841;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33043033;33091337;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35580925;36241641;36284347;37074911;37922835;37938771;38665916;38763144;7590364;8666242;9037597;9295267;9450183;9473480;9653647", "class_list": "", "function": "A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease., [RefSeq, PubMed]; CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing., [RefSeq, PubMed]; Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (PubMed:11054422, PubMed:19038966, PubMed:19038967). Requires substrates with an unsubstituted N-terminus (PubMed:19038966)., [UniProtKB, PubMed, PubMed, PubMed]; Lysosomal serine protease with tripeptidyl-peptidase I activity. May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases. Requires substrates with an unsubstituted N-terminus., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [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": 6, "mined_n_glycosites": 5, "mined_o_glycosites": 1, "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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 2, "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": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 30, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 26, "disease_count": 4, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q53HT1;Q5JAK6;Q6UX56;Q71JP6;Q96C37", "ec_number_list": [ { "id": "3.4.14.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.14.9", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0046872 metal ion binding;GO:0008240 tripeptidyl-peptidase activity;GO:0042277 peptide binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0045121 membrane raft;GO:0055037 recycling endosome;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:0006508 proteolysis;GO:0006629 lipid metabolic process;GO:0007399 nervous system development;GO:0030855 epithelial cell differentiation;GO:0050885 neuromuscular process controlling balance", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "O14773-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100110000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08629-1", "uniprot_id": [ { "id": "TICN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08629", "type": "external" } ], "mass": 49124.0, "length": 439, "protein_name": "Testican-1", "gene_name": "SPOCK1", "organism": "Human", "refseq_name": "testican-1 precursor", "refseq_ac": [ { "id": "NP_004589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004589", "type": "external" } ], "gene_names_uniprotkb": "SPOCK1; SPOCK; TIC1; TICN1", "gene_names_refseq": "SPOCK1; SPOCK; TESTICAN; TIC1", "protein_names_uniprotkb": "Testican-1; Protein SPOCK", "protein_names_refseq": "SPARC/osteonectin, cwcv and kazal like domains proteoglycan 1; sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1; testican-1 precursor", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6695)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1038/emboj.2013.79;11237011;1463459;23090970;23234360;23584533;24190977;24583203;25813380;26992070;31844290;33592498;35462225;36611136;36766694;38087364;39392048;8389704;9272383", "class_list": "glycogene", "function": "May play a role in cell-cell and cell-matrix interactions. May contribute to various neuronal mechanisms in the central nervous system., [UniProtKB]; Proteoglycan SPOCK1 as a Poor Prognostic Marker Promotes Malignant Progression of Clear Cell Renal Cell Carcinoma via Triggering the Snail/Slug-MMP-2 Axis-Mediated Epithelial-to-Mesenchymal Transition. Publication Status: Online-Only, [RefSeq, PubMed]; SPOCK1 and POSTN are valuable prognostic biomarkers and correlate with tumor immune infiltrates in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; SPOCK1 silencing decreases 5-FU resistance through PRRX1 in colorectal cancer., [RefSeq, PubMed]; SPOCK1, as a potential prognostic and therapeutic biomarker for lung adenocarcinoma, is associated with epithelial-mesenchymal transition and immune evasion. Publication Status: Online-Only, [RefSeq, PubMed]; SPOCK: Master regulator of malignant tumors (Review). Review article, [RefSeq, PubMed]; This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [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": 1, "reported_o_glycosites": 2, "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": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 572, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B3KSW3;Q59EW0;Q8N630;Q9UCL8", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0005509 calcium ion binding;GO:0005201 extracellular matrix structural constituent;GO:0004869 cysteine-type endopeptidase inhibitor activity;GO:0008191 metalloendopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0031012 extracellular matrix;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0001764 neuron migration;GO:0010977 negative regulation of neuron projection development;GO:0001558 regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q08629-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZP80-1", "uniprot_id": [ { "id": "TM182_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZP80", "type": "external" } ], "mass": 25879.0, "length": 229, "protein_name": "Transmembrane protein 182", "gene_name": "TMEM182", "organism": "Human", "refseq_name": "transmembrane protein 182 isoform c", "refseq_ac": [ { "id": "NP_001308274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308274", "type": "external" } ], "gene_names_uniprotkb": "TMEM182; PRO21957", "gene_names_refseq": "TMEM182", "protein_names_uniprotkb": "Transmembrane protein 182", "protein_names_refseq": "transmembrane protein 182 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:130827)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;30893332;32938560;33912179", "class_list": "", "function": "Identification of a TMEM182 rs141764639 polymorphism associated with central obesity by regulating tumor necrosis factor-alpha in a Korean population., [RefSeq, PubMed]; Negatively regulates myogenesis and skeletal muscle regeneration via its association with ITGB1 (By similarity). Modulates ITGB1 activation by decreasing ITGB1-LAMB1 interaction and inhibiting ITGB1-mediated intracellular signaling during myogenesis (By similarity)., [UniProtKB, UniProtKB]; Tumor necrosis factor alpha (TNF-alpha)-mediated expression of TMEM182 was regulated by miR-450a induction in oral squamous cell carcinoma. MiR-450a-reduced cellular adhesion was abolished by TMEM182 restoration. 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": 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": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "C9JML7;Q3B7B8;Q53TT9;Q6GMU0;Q8WW45;Q96NR4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:1901740 negative regulation of myoblast fusion;GO:0007517 muscle organ development;GO:0045662 negative regulation of myoblast differentiation;GO:0014908 myotube differentiation involved in skeletal muscle regeneration;GO:0014906 myotube cell development involved in skeletal muscle regeneration", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q6ZP80-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N614-1", "uniprot_id": [ { "id": "TM156_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N614", "type": "external" } ], "mass": 34323.0, "length": 296, "protein_name": "Transmembrane protein 156", "gene_name": "TMEM156", "organism": "Human", "refseq_name": "transmembrane protein 156 isoform 2", "refseq_ac": [ { "id": "NP_001290157", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290157", "type": "external" } ], "gene_names_uniprotkb": "TMEM156", "gene_names_refseq": "TMEM156", "protein_names_uniprotkb": "Transmembrane protein 156", "protein_names_refseq": "transmembrane protein 156 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80008)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11237011;24190977;25418920;26154972;26929215;28411811;28832583;29242379;29393594;29632046;30315122;31844290;32265295;33298915;33936100", "class_list": "", "function": "", "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": 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": 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": "Q9H5N9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8N614-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWM7-1", "uniprot_id": [ { "id": "SFXN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWM7", "type": "external" } ], "mass": 35503.0, "length": 321, "protein_name": "Sideroflexin-3", "gene_name": "SFXN3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SFXN3", "gene_names_refseq": "", "protein_names_uniprotkb": "Sideroflexin-3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:81855)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;25645385;25732826;27452731;27600516;28510447;28832583;28904123;29242379;29331515;29393594;29557506;30410026;30442778;31844290;31848261;32157095;32161166;32938616;32983136;33592498;33968037;34725712;35051231;35580925;36010968;36284347;37938771;38665916", "class_list": "", "function": "Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway (PubMed:30442778). Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors (PubMed:30442778)., [UniProtKB, PubMed, UniProtKB, 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": 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": 5, "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": "Q8NCJ0;Q9NTP4", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015194 L-serine transmembrane transporter activity;GO:0015075 monoatomic ion transmembrane transporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006730 one-carbon metabolic process;GO:1990542 mitochondrial transmembrane transport;GO:0140300 serine import into mitochondrion;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q9BWM7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2Z1-1", "uniprot_id": [ { "id": "TICRR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2Z1", "type": "external" } ], "mass": 210857.0, "length": 1910, "protein_name": "Treslin", "gene_name": "TICRR", "organism": "Human", "refseq_name": "treslin isoform 1", "refseq_ac": [ { "id": "NP_001294954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294954", "type": "external" } ], "gene_names_uniprotkb": "TICRR; C15orf42", "gene_names_refseq": "C15orf42; SLD3; TICRR; Treslin", "protein_names_uniprotkb": "Treslin; TopBP1-interacting checkpoint and replication regulator; TopBP1-interacting, replication-stimulating protein", "protein_names_refseq": "topBP1-interacting checkpoint and replication regulator; topBP1-interacting replication-stimulating protein; treslin isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:90381); (R-HSA-69273)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10393926;10395539;10600115;10652300;10827953;11063929;11237011;11238451;11313932;11897663;11907280;12411508;12754270;1384126;15024056;15456846;15572030;16582612;1717476;17533373;18220336;1828290;18285455;1836978;18384749;18394995;18452278;18669648;19160488;19192479;19413330;19651622;19664994;19690332;20068231;20080954;20116089;20360007;21646402;21813648;21900495;23186163;23242214;24366607;25576301;25880248;25892735;26154972;26992070;27600516;27846572;27920218;28191891;28218747;28228285;28649982;28832583;28834231;28855257;28904123;29154753;29242379;29437277;29557506;29632046;29769354;29786170;29789417;30315122;30379171;31092671;31530632;31844290;32157095;32161166;32265295;32350084;32387766;32502341;32897882;32938616;33141586;33298915;33402344;33495413;33592498;33691108;33771996;33936100;33968037;34171305;34211107;34509645;34534348;34932366;35051231;35091422;35595754;36010968;36241641;36311753;7737117;7743995;7799941;8119945;8428596;8440392;9268380;9670027;9679058", "class_list": "", "function": "Identification of hub genes and their correlation with infiltration of immune cells in MYCN positive neuroblastoma based on WGCNA and LASSO algorithm. Publication Status: Online-Only, [RefSeq, PubMed]; Oncogenic circTICRR suppresses autophagy via binding to HuR protein and stabilizing GLUD1 mRNA in cervical cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of TICRR and PPIF confer poor prognosis in endometrial cancer identified by gene co-expression network analysis., [RefSeq, PubMed]; Refining the domain architecture model of the replication origin firing factor Treslin/TICRR. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of DNA replication and S/M and G2/M checkpoints. Regulates the triggering of DNA replication initiation via its interaction with TOPBP1 by participating in CDK2-mediated loading of CDC45L onto replication origins. Required for the transition from pre-replication complex (pre-RC) to pre-initiation complex (pre-IC). Required to prevent mitotic entry after treatment with ionizing radiation., [UniProtKB, PubMed]; Results indicate that Cdk-mediated phosphorylation of Treslin during S phase is necessary for both its effective association with TopBP1 and its ability to promote DNA replication in human cells., [RefSeq, PubMed]; Results indicate that Treslin and TopBP1 collaborate in the Cdk2-mediated loading of Cdc45 onto replication origins; treslin regulates a pivotal step in the initiation of DNA replication in vertebrates., [RefSeq, PubMed]; TICRR acts in association with TopBP1 and plays an essential role in preinitiation complex formation [TICRR = TopBP1-interacting, checkpoint, and replication regulator], [RefSeq, PubMed]; The CRL4DTL E3 ligase induces degradation of the DNA replication initiation factor TICRR/TRESLIN specifically during S phase., [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": 33, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "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": "B2RE07;B3KVV9;D3IUT4;Q8N4X8;Q8NCH6;Q9BU55", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0030174 regulation of DNA-templated DNA replication initiation;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0010212 response to ionizing radiation;GO:0007095 mitotic G2 DNA damage checkpoint signaling", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q7Z2Z1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HH4-1", "uniprot_id": [ { "id": "TM169_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HH4", "type": "external" } ], "mass": 33611.0, "length": 297, "protein_name": "Transmembrane protein 169", "gene_name": "TMEM169", "organism": "Human", "refseq_name": "transmembrane protein 169", "refseq_ac": [ { "id": "NP_001135782", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135782", "type": "external" } ], "gene_names_uniprotkb": "TMEM169", "gene_names_refseq": "TMEM169", "protein_names_uniprotkb": "Transmembrane protein 169", "protein_names_refseq": "transmembrane protein 169", "tax_id": 9606, "disease": "", "pathway": " (hsa:92691)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;20463177;28218747;28514659;28904123;29493099;31844290;34561969", "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": 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": "B2R8W6", "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": "Q96HH4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P02788-1", "uniprot_id": [ { "id": "TRFL_HUMAN", "url": "https://www.uniprot.org/uniprot/P02788", "type": "external" } ], "mass": 78182.0, "length": 710, "protein_name": "Lactotransferrin", "gene_name": "LTF", "organism": "Human", "refseq_name": "lactotransferrin isoform 2", "refseq_ac": [ { "id": "NP_001186078", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186078", "type": "external" } ], "gene_names_uniprotkb": "LTF; GIG12; LF", "gene_names_refseq": "GIG12; HEL110; HLF2; LF; LTF", "protein_names_uniprotkb": "Lactotransferrin; 3.4.21.-; Growth-inhibiting protein 12; Lactoferrin; Talalactoferrin", "protein_names_refseq": "epididymis luminal protein 110; growth-inhibiting protein 12; kaliocin-1; lactoferricin; lactoferroxin; lactotransferrin isoform 2; neutrophil lactoferrin; talalactoferrin", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589); chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); prostate calculus (Disease Ontology:DOID:13689); candidiasis (Disease Ontology:DOID:1508); lung non-small cell carcinoma (Disease Ontology:DOID:3908); renal cell carcinoma (Disease Ontology:DOID:4450); connective tissue disease (Disease Ontology:DOID:65)", "pathway": " (hsa:4057); (R-HSA-1222449); (R-HSA-6798695); (R-HSA-6799990); (R-HSA-6803157); (R-HSA-977225)", "pathway_count": 6, "publication_count": 236, "publication_id_list": "37639587;40667337;10026247;10089347;10089508;10097139;10319874;10391242;10411933;10583407;10792619;10828980;10956649;11083624;11120840;11128996;11179314;11237011;11278841;11313366;11389039;11401442;11467836;11590439;11702692;118839;11971875;12037297;12037568;12151713;12450380;12454989;12493837;12535064;12565886;12693969;1270801;1369293;13816;14506261;14506276;14567678;14573629;14739326;1480183;15064394;15166119;1522221;15222485;15229136;15299444;15299793;15687491;15778384;1581307;15826377;15956276;15962837;1599934;16048952;16054449;16174740;16201406;16215847;16336202;16354652;16354654;16374474;16799473;16799559;16842782;16931762;16940129;17079302;17263370;17363965;17425515;17481742;17502600;17543335;17567961;1772635;17964057;18021746;18065497;18070888;18160480;18185531;1837051;18449172;18484335;1849145;18573312;18673279;18780401;19011241;19033648;19095652;19159218;19179970;19254208;19658395;19810752;19818633;19828817;20058876;20103720;20180804;20345905;20382864;20395631;20404350;20510021;20676056;20807650;20845358;2118650;21787330;2195544;22065755;22131221;22232695;22262861;22320386;22327069;22406253;22455996;22701042;22747601;22900286;23276281;23302724;23426625;23431180;23650620;23662732;2374734;23813966;23843990;2390069;2402455;2409350;24219363;24256734;24833601;24893886;25075772;25461571;25523424;25596890;25597447;2585506;25946035;26018760;26148048;26375851;26417681;26668317;26686862;26791533;26807092;27089320;27726376;279930;28228285;2900981;29242379;29557506;29632711;29741879;29786170;29789417;2981589;30237853;3035556;3053705;3080684;3094007;31154438;3142462;31611695;3169987;31844290;31965517;32125861;32157095;3286634;32938616;32983136;34171305;34357683;3477300;35051231;35154160;35318648;35494241;36284347;36677706;3675579;37074911;38323814;39212776;39218945;6510420;6794640;6802759;7049727;7060557;7068558;7774715;8011069;8033412;8069634;8089135;8097946;8114934;8159701;8371268;8464497;8490014;8551695;8594202;8692836;8703903;8870004;8931543;9003186;9006323;9054935;9122171;9359845;9523110;9665269;9756476;9862427;9873069", "class_list": "", "function": "Association between LTF/MMP20/CA6/TAS1R2 polymorphisms and susceptibility to dental caries. Publication Status: Online-Only, [RefSeq, PubMed]; Has antimicrobial activity and is able to permeabilize different ions through liposomal membranes., [UniProtKB, PubMed]; Has opioid antagonist activity (PubMed:1369293). Shows higher degrees of preference for kappa-receptors than for mu-receptors (PubMed:1369293)., [UniProtKB, PubMed]; Has opioid antagonist activity (PubMed:1369293). Shows preference for mu-receptor (PubMed:1369293)., [UniProtKB, PubMed]; Lactoferricin binds to the bacterial surface and is crucial for the bactericidal functions. Has some antiviral activity against papillomavirus infection (PubMed:17481742). N-terminal region shows strong antifungal activity against C.albicans (PubMed:11083624). Contains two BBXB heparin-binding consensus sequences that appear to form the predominate functional GAG-binding site., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Lactoferrin is an iron binding protein that also has antimicrobial, antiviral, antifungal and antiparasitic activity. Review article, [RefSeq, PubMed]; METTL16-SENP3-LTF axis confers ferroptosis resistance and facilitates tumorigenesis in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Major iron-binding and multifunctional protein found in exocrine fluids such as breast milk and mucosal secretions (PubMed:11179314, PubMed:12693969, PubMed:14573629, PubMed:1599934, PubMed:3169987, PubMed:6802759). Has antimicrobial activity, which depends on the extracellular cation concentration (PubMed:6802759). Antimicrobial properties include bacteriostasis, which is related to its ability to sequester free iron and thus inhibit microbial growth, as well as direct bactericidal properties leading to the release of lipopolysaccharides from the bacterial outer membrane (PubMed:11179314, PubMed:12693969, PubMed:14573629, PubMed:1599934, PubMed:3169987, PubMed:6802759). Can also prevent bacterial biofilm development in P.aeruginosa infection (PubMed:12037568). Has weak antifungal activity against C.albicans (PubMed:11083624). Has anabolic, differentiating and anti-apoptotic effects on osteoblasts and can also inhibit osteoclastogenesis, possibly playing a role in the regulation of bone growth (PubMed:15166119). Promotes binding of species C adenoviruses to epithelial cells, promoting adenovirus infection (PubMed:17079302). Can inhibit papillomavirus infections (PubMed:17481742). Stimulates the TLR4 signaling pathway leading to NF-kappa-B activation and subsequent pro-inflammatory cytokine production while also interfering with the lipopolysaccharide (LPS)-stimulated TLR4 signaling (PubMed:20345905). Inhibits neutrophil granulocyte migration to sites of apoptosis, when secreted by apoptotic cells (PubMed:19033648). Stimulates VEGFA-mediated endothelial cell migration and proliferation (PubMed:16842782). Binds heparin, chondroitin sulfate and possibly other glycosaminoglycans (GAGs) (PubMed:9359845). Also binds specifically to pneumococcal surface protein A (PspA), the lipid A portion of bacterial lipopolysaccharide (LPS), lysozyme and DNA (PubMed:9359845)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results identify the transcription start sites of the Delta lactoferrin (delta LF) in mammary gland and bone marrow and demonstrated that delta LF is the product of an alternative promoter present in the first intron of the lactoferrin gene., [RefSeq, PubMed]; The lactotransferrin transferrin-like domain 1 functions as a serine protease of the peptidase S60 family that cuts arginine rich regions (PubMed:12535064). This function contributes to the antimicrobial activity (PubMed:12535064). Shows a preferential cleavage at -Arg-Ser-Arg-Arg-|- and -Arg-Arg-Ser-Arg-|-, and of Z-Phe-Arg-|-aminomethylcoumarin sites (PubMed:12535064)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; This gene is a member of the transferrin family of genes and its protein product is found in the secondary granules of neutrophils. The protein is a major iron-binding protein in milk and body secretions with an antimicrobial activity, making it an important component of the non-specific immune system. The protein demonstrates a broad spectrum of properties, including regulation of iron homeostasis, host defense against a broad range of microbial infections, anti-inflammatory activity, regulation of cellular growth and differentiation and protection against cancer development and metastasis. Antimicrobial, antiviral, antifungal and antiparasitic activity has been found for this protein and its peptides. Activity against both DNA and RNA viruses has been found, including activity against SARS-CoV-2, and HIV. [provided by RefSeq, Jul 2021]., [RefSeq]; Transcription factor with antiproliferative properties and ability to induce cell cycle arrest (PubMed:15222485). Binds to the DeltaLf response element found in the SKP1, BAX, DCPS, and SELENOH promoters (PubMed:22320386)., [UniProtKB, PubMed, PubMed]; Transferrins are iron binding transport proteins which can bind two Fe(3+) ions in association with the binding of an anion, usually bicarbonate., [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": 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": 21, "reported_phosphosites": 2, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 259, "disease_count": 7, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K9U8;B2MV13;B7Z4X2;E7EQH5;O00756;Q16780;Q16785;Q16786;Q16789;Q5DSM0;Q8IU92;Q8IZH6;Q8TCD2;Q96KZ4;Q96KZ5;Q9H1Z3;Q9UCY5", "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:0003677 DNA binding;GO:0004252 serine-type endopeptidase activity;GO:0005506 iron ion binding;GO:0008201 heparin binding;GO:0001530 lipopolysaccharide binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005769 early endosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006508 proteolysis;GO:0019731 antibacterial humoral response;GO:0019732 antifungal humoral response;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 50.1, "record_id": "P02788-1", "record_type": "protein", "filter_code": "0001000.1100111.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBK3-1", "uniprot_id": [ { "id": "SUMF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBK3", "type": "external" } ], "mass": 40556.0, "length": 374, "protein_name": "Formylglycine-generating enzyme", "gene_name": "SUMF1", "organism": "Human", "refseq_name": "formylglycine-generating enzyme isoform 2 precursor", "refseq_ac": [ { "id": "NP_001158146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158146", "type": "external" } ], "gene_names_uniprotkb": "SUMF1; PRO9852; PSEC0152", "gene_names_refseq": "AAPA3037; FGE; SUMF1; UNQ3037", "protein_names_uniprotkb": "Formylglycine-generating enzyme; 1.8.3.7; C-alpha-formylglycine-generating enzyme 1; FGE; Sulfatase-modifying factor 1", "protein_names_refseq": "C-alpha-formylglycine-generating enzyme 1; FGly-generating enzyme; formylglycine-generating enzyme isoform 2 precursor", "tax_id": 9606, "disease": "mucosulfatidosis (Disease Ontology:DOID:0050441)", "pathway": " (hsa:285362); (R-HSA-1663150); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 150, "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;12594539;12662933;12757705;12757706;12885774;12888274;12909021;12975309;1352293;1352993;14563551;15003450;15146462;15213228;15458386;15657036;15708861;15714521;15773042;15845354;15907468;15962010;16229686;16230343;16303743;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;18157819;18266766;1840600;18524657;1889421;1907800;1915858;19159218;19262745;19405096;19836391;2001789;20728381;21224894;23090970;235289;239890;24190977;25418920;2562955;25931126;26929215;2717620;27862975;28126847;28832583;29242379;29393594;29443946;29557506;2960521;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29786170;29802621;3014515;30429286;3048308;30833945;31154438;3136930;31495489;3158659;31611695;31844290;31848261;32157095;32357974;32897882;32938616;32983136;34171305;3456607;35051231;35254053;35580925;36010968;37074911;37344788;37938771;38460946;38665916;39940;40596516;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": "", "function": "Association between SUMF1 polymorphisms and COVID-19 severity. Publication Status: Online-Only, [RefSeq, PubMed]; Mutational analysis of SUMF1 in 20 Multiple sulfatase deficiency patients of different ethnic origin, [RefSeq, PubMed]; Oxidase that catalyzes the conversion of cysteine to 3-oxoalanine on target proteins, using molecular oxygen and an unidentified reducing agent (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:21224894, PubMed:25931126). 3-oxoalanine modification, which is also named formylglycine (fGly), occurs in the maturation of arylsulfatases and some alkaline phosphatases that use the hydrated form of 3-oxoalanine as a catalytic nucleophile (PubMed:12757706, PubMed:15657036, PubMed:15907468, PubMed:16368756, PubMed:25931126). Known substrates include GALNS, ARSA, STS and ARSE (PubMed:12757706, PubMed:15657036, PubMed:15907468)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; SUMF1 overexpression promotes tumorous cell growth and migration and is correlated with the immune status of patients with glioma., [RefSeq, PubMed]; This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [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": 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": 6, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DXK5;B7XD05;E9PGL0;G5E9B0;Q0VAC6;Q0VAC7;Q2NL78;Q53ZE4;Q6UY39;Q96AK5;Q96DK8", "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:0042802 identical protein binding;GO:0016491 oxidoreductase activity;GO:1903135 cupric ion binding;GO:0120147 formylglycine-generating oxidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0018158 protein oxidation;GO:0046479 glycosphingolipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q8NBK3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14717-1", "uniprot_id": [ { "id": "TRDMT_HUMAN", "url": "https://www.uniprot.org/uniprot/O14717", "type": "external" } ], "mass": 44597.0, "length": 391, "protein_name": "tRNA (cytosine(38)-C(5))-methyltransferase", "gene_name": "TRDMT1", "organism": "Human", "refseq_name": "tRNA (cytosine(38)-C(5))-methyltransferase isoform f", "refseq_ac": [ { "id": "NP_001307935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307935", "type": "external" } ], "gene_names_uniprotkb": "TRDMT1; DNMT2", "gene_names_refseq": "DMNT2; DNMT2; MHSAIIP; PUMET; RNMT1; TRDMT1", "protein_names_uniprotkb": "tRNA (cytosine(38)-C(5))-methyltransferase; 2.1.1.204; DNA (cytosine-5)-methyltransferase-like protein 2; DNA MTase homolog HsaIIP; DNA methyltransferase homolog HsaIIP; Dnmt2; M.HsaIIP; PuMet", "protein_names_refseq": "DNA (cytosine-5)-methyltransferase-like protein 2; DNA MTase homolog HsaIIP; DNA cytosine-5 methyltransferase 2; DNA methyltransferase-2; tRNA (cytosine(38)-C(5))-methyltransferase isoform f; tRNA (cytosine(38)-C(5))-methyltransferase; tRNA (cytosine-5-)-methyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:1787); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10430867;10982862;11027153;11111046;11139614;11237011;11551826;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23381944;23604283;24126054;24204302;24901367;25261850;25404562;25576301;25916855;26160102;26310293;27055666;28904123;30093495;30315122;31217245;31481669;31844290;32157095;32938616;33936100;33968037;34100772;34139673;34171305;34871455;36241641;36273376;36610787;9425235;9430663;9592134;9599025;9851972", "class_list": "", "function": "DNMT2/TRDMT1 gene knockout compromises doxorubicin-induced unfolded protein response and sensitizes cancer cells to ER stress-induced apoptosis., [RefSeq, PubMed]; Genetic and biochemical approach revealed that DNMT2 did not methylate DNA but instead methylated aspartic acid transfer RNA (tRNA(Asp)) and that DNMT2 specifically methylated cytosine 38 in the anticodon loop, [RefSeq, PubMed]; Position 34 of tRNA is a discriminative element for m5C38 modification by human DNMT2., [RefSeq, PubMed]; Specifically methylates cytosine 38 in the anticodon loop of tRNA(Asp) (PubMed:16424344). Has higher activity on tRNA(Asp) modified with queuosine at position 34 (PubMed:30093495)., [UniProtKB, PubMed, PubMed]; TRDMT1 participates in the DNA damage repair of granulosa cells in premature ovarian failure., [RefSeq, PubMed]; The lack of functional DNMT2/TRDMT1 gene modulates cancer cell responses during drug-induced senescence., [RefSeq, PubMed]; This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [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": 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": "B0YJ02;B0YJ03;B0YJ07;B0YJ08;O43669;Q86WW6", "ec_number_list": [ { "id": "2.1.1.204", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.204", "type": "external" } ], "go_molecular_function": "GO:0008175 tRNA methyltransferase activity;GO:0016428 tRNA (cytidine-5-)-methyltransferase activity;GO:0003723 RNA binding;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0008033 tRNA processing;GO:0006400 tRNA modification;GO:0030488 tRNA methylation;GO:0036416 tRNA stabilization;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "O14717-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBV8-4", "uniprot_id": [ { "id": "SYT8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBV8", "type": "external" } ], "mass": 42433.0, "length": 387, "protein_name": "Synaptotagmin-8", "gene_name": "SYT8", "organism": "Human", "refseq_name": "synaptotagmin-8 isoform 5", "refseq_ac": [ { "id": "NP_001381001", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001381001", "type": "external" } ], "gene_names_uniprotkb": "SYT8", "gene_names_refseq": "SYT8", "protein_names_uniprotkb": "Synaptotagmin-8; Synaptotagmin VIII; SytVIII", "protein_names_refseq": "synaptotagmin VIII; synaptotagmin-8 isoform 5; sytVIII", "tax_id": 9606, "disease": "congenital myasthenic syndrome 7 (Disease Ontology:DOID:0110659); congenital myasthenic syndrome (Disease Ontology:DOID:3635); neuromuscular junction disease (Disease Ontology:DOID:439)", "pathway": " (hsa:90019); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 3, "publication_count": 203, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16326391;16410077;16459302;16460808;16516836;16707488;16723738;16798879;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18819912;18981233;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;19913121;20033059;20059951;20211604;20231386;20351096;20428113;20448150;20628086;20826345;20946875;21102408;2115402;21187331;21278753;21316588;21336277;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;26042225;26403691;26829388;28026832;2890644;3417785;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "Inactivation of the insulin promoter by promoter-targeting siRNA reduces SYT8 gene expression., [RefSeq, PubMed]; Involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Mediates Ca(2+)-regulation of exocytosis acrosomal reaction in sperm. May mediate Ca(2+)-regulation of exocytosis in insulin secreted cells., [UniProtKB, UniProtKB]; 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]; SYT8 represents a promising target for the detection, prediction, and treatment of peritoneal metastasis of GC., [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": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A6NCR4;A6NFJ4;Q9NSV9", "ec_number_list": [], "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0001669 acrosomal vesicle;GO:0030672 synaptic vesicle membrane;GO:0070382 exocytic vesicle", "go_biological_process": "GO:0007340 acrosome reaction;GO:0016192 vesicle-mediated transport;GO:0017158 regulation of calcium ion-dependent exocytosis;GO:2000300 regulation of synaptic vesicle exocytosis;GO:0099502 calcium-dependent activation of synaptic vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "Q8NBV8-4", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB59-1", "uniprot_id": [ { "id": "SYT14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB59", "type": "external" } ], "mass": 62287.0, "length": 555, "protein_name": "Synaptotagmin-14", "gene_name": "SYT14", "organism": "Human", "refseq_name": "synaptotagmin-14 isoform 3", "refseq_ac": [ { "id": "NP_001139734", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139734", "type": "external" } ], "gene_names_uniprotkb": "SYT14", "gene_names_refseq": "SCAR11; SYT14; sytXIV", "protein_names_uniprotkb": "Synaptotagmin-14; Synaptotagmin XIV; SytXIV", "protein_names_refseq": "synaptotagmin XIV; synaptotagmin-14 isoform 3", "tax_id": 9606, "disease": "autosomal recessive spinocerebellar ataxia 11 (Disease Ontology:DOID:0080063)", "pathway": " (hsa:255928)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12801916;15238157;17304550;21835308;22527681;24275721;25576301;25576336;29242379;29634997;32157095;32938616", "class_list": "", "function": "A homozygous missense mutation in SYT14, encoding synaptotagmin XIV was identified in a Japanese family in which two siblings have slow progression of a type of autosomal-recessive cerebellar ataxias., [RefSeq, PubMed]; Constitutional rearrangement of SYT14 may contribute to macrocephaly, cerebral atrophy, seizures and developmental delay., [RefSeq, PubMed]; May be involved in the trafficking and exocytosis of secretory vesicles in non-neuronal tissues. Is Ca(2+)-independent., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing SYT14 genes causing ataxia. Review article, [RefSeq, PubMed]; SYT14 mRNA expression was detected in the three glioma cell lines, and was highest in the U87MG cell line. The RNAi-mediated knockdown of SYT14 significantly decreased cell proliferation and colony formation in U87MG cells, and caused a moderate increase in apoptosis. Fewer S phase cells and more G2/M phase cells were observed., [RefSeq, PubMed]; This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. 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 4. [provided by RefSeq, Dec 2011]., [RefSeq]; Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14 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": 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": "B1AJU0;B1AJU1;F5H426;Q5THX7;Q707N3;Q707N4;Q707N5;Q707N6;Q707N7", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q8NB59-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14668-1", "uniprot_id": [ { "id": "TMG1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14668", "type": "external" } ], "mass": 24947.0, "length": 218, "protein_name": "Transmembrane gamma-carboxyglutamic acid protein 1", "gene_name": "PRRG1", "organism": "Human", "refseq_name": "transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000941", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000941", "type": "external" } ], "gene_names_uniprotkb": "PRRG1; PRGP1; TMG1", "gene_names_refseq": "PRGP1; PRRG1", "protein_names_uniprotkb": "Transmembrane gamma-carboxyglutamic acid protein 1; Proline-rich Gla protein 1; Proline-rich gamma-carboxyglutamic acid protein 1", "protein_names_refseq": "proline rich Gla (G-carboxyglutamic acid) 1; proline-rich Gla (G-carboxyglutamic acid) polypeptide 1; transmembrane gamma-carboxyglutamic acid protein 1 isoform 1 precursor; transmembrane gamma-carboxyglutamic acid protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5638)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;16959974;20068231;25576301;29557506;30779550;30833945;31611695;32161166;32350084;34171305;35051231;35251023;36241641;9256434", "class_list": "", "function": "This gene encodes a vitamin K-dependent, gamma-carboxyglutamic acid (Gla)-containing, single-pass transmembrane protein. This protein contains a Gla domain at the N-terminus, preceded by a propeptide sequence required for post-translational gamma-carboxylation of specific glutamic acid residues by a vitamin K-dependent gamma-carboxylase. The C-terminus is proline-rich containing PPXY and PXXP motifs found in a variety of signaling and cytoskeletal proteins. This gene is highly expressed in the spinal cord. Several alternatively spliced transcript variants 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R7A3;C9JXL7;D3DWA9;Q5JT66", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis;GO:0007596 blood coagulation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O14668-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AX1-1", "uniprot_id": [ { "id": "VP33A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AX1", "type": "external" } ], "mass": 67611.0, "length": 596, "protein_name": "Vacuolar protein sorting-associated protein 33A", "gene_name": "VPS33A", "organism": "Human", "refseq_name": "vacuolar protein sorting-associated protein 33A isoform 1", "refseq_ac": [ { "id": "NP_075067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075067", "type": "external" } ], "gene_names_uniprotkb": "VPS33A", "gene_names_refseq": "MPSPS; VPS33A", "protein_names_uniprotkb": "Vacuolar protein sorting-associated protein 33A; hVPS33A", "protein_names_refseq": "VPS33A, CORVET/HOPS core subunit; vacuolar protein sorting 33 homolog A; vacuolar protein sorting 33A; vacuolar protein sorting-associated protein 33A isoform 1; vacuolar protein sorting-associated protein 33A", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); mucopolysaccharidosis-plus syndrome (MONDO:MONDO:0015012)", "pathway": " (hsa:65082); (R-HSA-9754560)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "11237011;12538872;15790593;18552835;19109425;20434987;21411634;23351085;23901104;24366607;24554770;24714562;24715725;25266290;25418920;25576301;25783203;25802875;25880248;25892735;26154972;26811146;26992070;27547915;27600516;27846572;27920218;28013294;28063628;28218747;28228285;28325809;28446606;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33422265;33537174;33592498;33691108;33717175;33912179;33936100;33947832;33966045;33968037;33981976;34087483;34171305;34357683;34386498;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "A and B classes reflect the evolution of organelle/tissue-specific functions, [RefSeq, PubMed]; Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS16 but not VIPAS39 (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]., [RefSeq]; VPS33A is mutated in Hermansky-Pudlak syndrome and may have a role in melanogenesis, [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": 3, "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": "Q547V4;Q9H5Q0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0030897 HOPS complex;GO:0005769 early endosome;GO:0048471 perinuclear region of cytoplasm;GO:0005764 lysosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0097352 autophagosome maturation;GO:0035542 regulation of SNARE complex assembly;GO:0006886 intracellular protein transport;GO:0008333 endosome to lysosome transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q96AX1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRN9-1", "uniprot_id": [ { "id": "TM2D3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRN9", "type": "external" } ], "mass": 27118.0, "length": 247, "protein_name": "TM2 domain-containing protein 3", "gene_name": "TM2D3", "organism": "Human", "refseq_name": "TM2 domain-containing protein 3 isoform b precursor", "refseq_ac": [ { "id": "NP_079417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079417", "type": "external" } ], "gene_names_uniprotkb": "TM2D3; BLP2", "gene_names_refseq": "BLP2; NCRMS; TM2D3", "protein_names_uniprotkb": "TM2 domain-containing protein 3; BBP-like protein 2; Beta-amyloid-binding protein-like protein 2", "protein_names_refseq": "BBP-like protein 2; TM2 domain-containing protein 3 isoform b precursor; TM2 domain-containing protein 3; almondex homolog; beta-amyloid-binding protein-like protein 2", "tax_id": 9606, "disease": "neurocardiorenal malformation syndrome (Disease Ontology:DOID:0070719); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:80213)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;11278849;16642435;23090970;23584533;24190977;25418920;27764101;28218747;28228285;28832583;28904123;29437277;29446487;29557506;29741879;30315122;30410026;31217245;31844290;32350084;32357974;34357683;35251023;37074911;37340703;38016980;40449487", "class_list": "", "function": "Our approach yielded 26 candidate genes differentially expressed between patients (Osteoarthritis) and controls. BLP2 and CIAS1 seem to be trans-regulated, as the absence of allelic expression imbalances suggests., [RefSeq, PubMed]; Our results establish a rare TM2D3 variant in association with late-onset Alzheimer's disease susceptibility, and together with prior work suggests possible links to the beta-amyloid cascade Erratum:[PLoS Genet. 2016 Nov 28;12(11):e1006456. doi: 10.1371/journal.pgen.1006456. PMID: 27893753] Publication Status: Online-Only, [RefSeq, PubMed]; Positive regulator of Notch signaling, required for activation of NOTCH1 intracellular processing and NOTCH1 localization to the cell membrane., [UniProtKB, PubMed, PubMed]; The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, unlike BBP, it does not regulate a response to beta-amyloid peptide. This protein may have regulatory roles in cell death or proliferation signal cascades. Several alternatively spliced transcript variants of this gene are described but the full length nature of some variants has not been determined. Multiple polyadenylation sites have been found in this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; These findings indicated that the TT genotype and T allele frequencies of TM2D3 rs675436 were associated with an increased risk of Epstein-Barr virus-associated gastric carcinoma, while allele A or G of FGFR2 rs755793 had no effect on the occurrence of Epstein-Barr virus-associated tumors 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": 6, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 6, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "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": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 2, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "B2RDK9;Q9H046;Q9H651", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0046331 lateral inhibition;GO:2000010 positive regulation of protein localization to cell surface;GO:0045747 positive regulation of Notch signaling pathway;GO:0035334 Notch receptor processing, ligand-independent", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9BRN9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPI0-1", "uniprot_id": [ { "id": "TM138_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPI0", "type": "external" } ], "mass": 19262.0, "length": 162, "protein_name": "Transmembrane protein 138", "gene_name": "TMEM138", "organism": "Human", "refseq_name": "transmembrane protein 138 isoform 1", "refseq_ac": [ { "id": "NP_057548", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057548", "type": "external" } ], "gene_names_uniprotkb": "TMEM138; HSPC196; HSPC198", "gene_names_refseq": "HSPC196; TMEM138", "protein_names_uniprotkb": "Transmembrane protein 138", "protein_names_refseq": "transmembrane protein 138 isoform 1", "tax_id": 9606, "disease": "Joubert syndrome 16 (Disease Ontology:DOID:0110985)", "pathway": " (hsa:51524)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;12750860;22282472;24397554;26811146;28102635;28218747;29393594;29437277;30315122;31844290;32157095;32357974;32488085;33298915;33537174;33912179;34357683;35394880;35580925", "class_list": "", "function": "Here we present clinical and molecular characterization of the case of an Emirati boy with Joubert syndrome, probably resulting from a splice-site mutation in TMEM138, [RefSeq, PubMed]; Required for ciliogenesis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study reports that mutation of either TMEM138 or TMEM216 causes a phenotypically indistinguishable ciliopathy, Joubert syndrome; expression of the genes is mediated by a conserved regulatory element in the noncoding intergenic region, [RefSeq, PubMed]; This gene encodes a multi-pass transmembrane protein. Reduced expression of this gene in mouse fibroblasts causes short cilia and failure of ciliogenesis. Expression of this gene is tightly coordinated with expression of the neighboring gene TMEM216. Mutations in this gene are associated with the autosomal recessive neurodevelopmental disorder Joubert Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]., [RefSeq]; Tmem138 is localized to the connecting cilium essential for rhodopsin localization and outer segment biogenesis., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "A6NGA7;B4E044;Q5JPE1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0005774 vacuolar membrane", "go_biological_process": "GO:0060271 cilium assembly;GO:0030030 cell projection organization", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9NPI0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43897-1", "uniprot_id": [ { "id": "TLL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43897", "type": "external" } ], "mass": 114709.0, "length": 1013, "protein_name": "Tolloid-like protein 1", "gene_name": "TLL1", "organism": "Human", "refseq_name": "tolloid-like protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001191689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191689", "type": "external" } ], "gene_names_uniprotkb": "TLL1; TLL", "gene_names_refseq": "ASD6; TLL1; TLL", "protein_names_uniprotkb": "Tolloid-like protein 1; 3.4.24.-", "protein_names_refseq": "tolloid-like protein 1 isoform 2 precursor; tolloid-like protein 1", "tax_id": 9606, "disease": "atrial heart septal defect 6 (Disease Ontology:DOID:0110111); congenital heart disease (Disease Ontology:DOID:1682); coronary artery disease (Disease Ontology:DOID:3393)", "pathway": " (hsa:7092); (R-HSA-1474228); (R-HSA-1650814); (R-HSA-2214320); (R-HSA-2243919)", "pathway_count": 5, "publication_count": 117, "publication_id_list": "10.1101/2023.09.13.557529;10229672;10386589;10479448;10706100;10809722;10896944;10934207;10986281;11237011;11313359;11375993;11872628;11986329;12211432;1237296;12473679;12475640;12646579;12727852;12843408;1323838;1348714;14500733;1484505;14973287;15044469;15234972;15591058;1567360;1577494;15958533;16133547;16272566;1649600;16563355;16591531;16631740;16825321;16959974;1698775;1707285;17332331;17354228;17608959;18434311;18487197;18599485;18658137;18824173;18830233;19010778;19075007;19571574;19657146;19693541;19714641;19729652;20142769;20470363;21030783;21297635;21441952;21670566;21784848;21864727;21878990;21967573;22159414;22842973;23035980;23090970;23845380;24190977;24715725;2543975;28904123;29242379;29393594;29741879;3082888;3173483;32350084;33347699;33876824;34071309;34411563;35051231;3595596;36087399;37981236;3905801;3938630;3992061;41816;5246001;5723342;6129847;6307276;641035;6809411;7075587;710450;7547873;8226919;8626565;8636146;9054364;9065415;9115292;9148753;9461298;9470928;9545296;9560306;9582318;9852107", "class_list": "", "function": "Assessment of TLL1 variant and risk of hepatocellular carcinoma in Latin Americans and Europeans., [RefSeq, PubMed]; Association between Interferon-Lambda-3 rs12979860, TLL1 rs17047200 and DDR1 rs4618569 Variant Polymorphisms with the Course and Outcome of SARS-CoV-2 Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Characterization of tolloid-mediated cleavage of the GDF8 procomplex., [RefSeq, PubMed]; Chitinase 3-like-1, Tolloid-like protein 1, and intergenic gene polymorphisms are predictors for hepatocellular carcinoma development after hepatitis C virus eradication by direct-acting antivirals., [RefSeq, PubMed]; Klebsiella pneumoniae activates the TGF-beta signaling pathway to adhere to and invade intestinal epithelial cells via enhancing TLL1 expression., [RefSeq, PubMed]; Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis., [UniProtKB]; This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 1, "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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 3, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "B2RMU2;Q96AN3;Q9NQS4", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.22.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.15", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "1.4.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.13", "type": "external" }, { "id": "1.4.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.-", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0016485 protein processing;GO:0030154 cell differentiation;GO:0001501 skeletal system development;GO:0030199 collagen fibril organization;GO:0009953 dorsal/ventral pattern formation", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "O43897-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76070-1", "uniprot_id": [ { "id": "SYUG_HUMAN", "url": "https://www.uniprot.org/uniprot/O76070", "type": "external" } ], "mass": 13331.0, "length": 127, "protein_name": "Gamma-synuclein", "gene_name": "SNCG", "organism": "Human", "refseq_name": "gamma-synuclein isoform 2", "refseq_ac": [ { "id": "NP_001317049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317049", "type": "external" } ], "gene_names_uniprotkb": "SNCG; BCSG1; PERSYN; PRSN", "gene_names_refseq": "BCSG1; SNCG; SR", "protein_names_uniprotkb": "Gamma-synuclein; Breast cancer-specific gene 1 protein; Persyn; SR; Synoretin", "protein_names_refseq": "-synuclein; E pound-synuclein; breast cancer-specific gene 1 protein; gamma-synuclein isoform 2; gamma-synuclein; persyn; synoretin; synuclein, gamma (breast cancer-specific protein 1)", "tax_id": 9606, "disease": "amyotrophic lateral sclerosis type 1 (Disease Ontology:DOID:0060193); Alzheimer's disease (Disease Ontology:DOID:10652); Lewy body dementia (Disease Ontology:DOID:12217); Parkinson's disease (Disease Ontology:DOID:14330); depressive disorder (Disease Ontology:DOID:1596); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); pancreatic cancer (Disease Ontology:DOID:1793); pantothenate kinase-associated neurodegeneration (Disease Ontology:DOID:3981); retinoblastoma (Disease Ontology:DOID:768); vascular dementia (Disease Ontology:DOID:8725)", "pathway": " (hsa:6623)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10852916;11237011;11746666;18669648;20068231;22661428;28657654;29331515;29557506;30429286;30484775;31154438;31611695;31848261;32350084;33981976;34087483;35089073;35251023;35254053;35434126;35580925;35637967;36166741;37487948;37938771;40596516;9044857;9700196;9737786", "class_list": "", "function": "Effects of the Methylation Levels for the Breast Cancer Associated Genes BCSG1 and BRCA1 on Cellular Proliferation and Migration., [RefSeq, PubMed]; Gamma synuclein promotes cancer metastasis through the MKK3/6-p38MAPK cascade. Publication Status: Online-Only, [RefSeq, PubMed]; Noninvasive Detection of Esophageal Cancer by the Combination of mSEPT9 and SNCG., [RefSeq, PubMed]; Plays a role in neurofilament network integrity. May be involved in modulating axonal architecture during development and in the adult. In vitro, increases the susceptibility of neurofilament-H to calcium-dependent proteases (By similarity). May also function in modulating the keratin network in skin. Activates the MAPK and Elk-1 signal transduction pathway (By similarity)., [UniProtKB]; This gene encodes a member of the synuclein family of proteins which are believed to be involved in the pathogenesis of neurodegenerative diseases. Mutations in this gene have also been associated with breast tumor development. [provided by RefSeq, Jan 2010]., [RefSeq]; Upregulation of Parkinson's disease-associated protein alpha-synuclein suppresses tumorigenesis via interaction with mGluR5 and gamma-synuclein in liver cancer., [RefSeq, PubMed]; Upregulation of Synuclein-gamma and Snai1 Contributes to Poor Clinical Prognosis in Oral Squamous Cell Carcinoma 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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 11, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "O15104;Q96P61", "ec_number_list": [], "go_molecular_function": "GO:1903136 cuprous ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005819 spindle;GO:0005829 cytosol;GO:0043025 neuronal cell body", "go_biological_process": "GO:0050808 synapse organization;GO:0007268 chemical synaptic transmission;GO:0009306 protein secretion;GO:0048488 synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "O76070-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUI0-1", "uniprot_id": [ { "id": "TPRG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUI0", "type": "external" } ], "mass": 31230.0, "length": 275, "protein_name": "Tumor protein p63-regulated gene 1 protein", "gene_name": "TPRG1", "organism": "Human", "refseq_name": "tumor protein p63-regulated gene 1 protein", "refseq_ac": [ { "id": "NP_940887", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940887", "type": "external" } ], "gene_names_uniprotkb": "TPRG1; FAM79B", "gene_names_refseq": "FAM79B; TPRG1", "protein_names_uniprotkb": "Tumor protein p63-regulated gene 1 protein; Protein FAM79B", "protein_names_refseq": "family with sequence similarity 79, member B; tumor protein p63-regulated gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:285386)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18256694;19475631;28834231;31154438;33717175;34998360;38253038", "class_list": "", "function": "Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Tumor protein P63 Regulated 1 contributes to inflammation and cell proliferation of cystitis glandularis through regulating the NF-small ka, CyrillicB/cyclooxygenase-2/prostaglandin E2 axis. 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6ZUI0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00734-1", "uniprot_id": [ { "id": "THRB_HUMAN", "url": "https://www.uniprot.org/uniprot/P00734", "type": "external" } ], "mass": 70037.0, "length": 622, "protein_name": "Prothrombin", "gene_name": "F2", "organism": "Human", "refseq_name": "prothrombin preproprotein", "refseq_ac": [ { "id": "NP_000497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000497", "type": "external" } ], "gene_names_uniprotkb": "F2", "gene_names_refseq": "F2; PT; RPRGL2; THPH1", "protein_names_uniprotkb": "Prothrombin; 3.4.21.5; Coagulation factor II", "protein_names_refseq": "prepro-coagulation factor II; prothrombin B-chain; prothrombin preproprotein; thrombin factor II", "tax_id": 9606, "disease": "stroke (Disease Ontology:DOID:0051061); left ventricular failure (Disease Ontology:DOID:0051064); thrombosis (Disease Ontology:DOID:0060903); COVID-19 (Disease Ontology:DOID:0080600); calcium oxalate nephrolithiasis (Disease Ontology:DOID:0080652); acquired angioedema (Disease Ontology:DOID:0080941); syndromic microphthalmia 12 (Disease Ontology:DOID:0111800); thrombophilia due to thrombin defect (Disease Ontology:DOID:0111907); sensorineural hearing loss (Disease Ontology:DOID:10003); osteonecrosis (Disease Ontology:DOID:10159); pre-eclampsia (Disease Ontology:DOID:10591); celiac disease (Disease Ontology:DOID:10608); sickle cell anemia (Disease Ontology:DOID:10923); urinary bladder cancer (Disease Ontology:DOID:11054); disseminated intravascular coagulation (Disease Ontology:DOID:11247); portal vein thrombosis (Disease Ontology:DOID:11695); factor VIII deficiency (Disease Ontology:DOID:12134); Chagas disease (Disease Ontology:DOID:12140); dengue disease (Disease Ontology:DOID:12205); hemophilia B (Disease Ontology:DOID:12259); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); Huntington's disease (Disease Ontology:DOID:12858); carotid stenosis (Disease Ontology:DOID:13001); toxic shock syndrome (Disease Ontology:DOID:14115); hereditary angioedema (Disease Ontology:DOID:14735); urticaria (Disease Ontology:DOID:1555); retinal vein occlusion (Disease Ontology:DOID:1727); hepatitis C (Disease Ontology:DOID:1883); atherosclerosis (Disease Ontology:DOID:1936); autoimmune hepatitis (Disease Ontology:DOID:2048); prothrombin deficiency (Disease Ontology:DOID:2235); leptospirosis (Disease Ontology:DOID:2297); ovarian cancer (Disease Ontology:DOID:2394); thrombophilia (Disease Ontology:DOID:2452); nephrosis (Disease Ontology:DOID:2527); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); familial Mediterranean fever (Disease Ontology:DOID:2987); high grade glioma (Disease Ontology:DOID:3070); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); atopic dermatitis (Disease Ontology:DOID:3310); coronary artery disease (Disease Ontology:DOID:3393); cerebral infarction (Disease Ontology:DOID:3526); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); systemic scleroderma (Disease Ontology:DOID:418); hyperglycemia (Disease Ontology:DOID:4195); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); allergic rhinitis (Disease Ontology:DOID:4481); brain edema (Disease Ontology:DOID:4724); liver cirrhosis (Disease Ontology:DOID:5082); lung small cell carcinoma (Disease Ontology:DOID:5409); eye disease (Disease Ontology:DOID:5614); myocardial infarction (Disease Ontology:DOID:5844); hepatocellular carcinoma (Disease Ontology:DOID:684); asbestos-related lung carcinoma (Disease Ontology:DOID:7596); end stage renal disease (Disease Ontology:DOID:783); appendicitis (Disease Ontology:DOID:8337); bullous pemphigoid (Disease Ontology:DOID:8506); herpes zoster (Disease Ontology:DOID:8536); ulcerative colitis (Disease Ontology:DOID:8577); bacterial pneumonia (Disease Ontology:DOID:874); Crohn's disease (Disease Ontology:DOID:8778); systemic lupus erythematosus (Disease Ontology:DOID:9074); hyperhomocysteinemia (Disease Ontology:DOID:9279); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary embolism (Disease Ontology:DOID:9477); obesity (Disease Ontology:DOID:9970); pregnancy loss, recurrent, susceptibility to, 2 (MONDO:MONDO:0013728)", "pathway": " (hsa:2147); (R-HSA-159740); (R-HSA-159763); (R-HSA-159782); (R-HSA-202733); (R-HSA-375276); (R-HSA-381426); (R-HSA-416476); (R-HSA-456926); (R-HSA-76009); (R-HSA-9657688); (R-HSA-9672391); (R-HSA-9769733); (R-HSA-9769735); (R-HSA-9769739); (R-HSA-9769743); (R-HSA-977606); (R-HSA-9918481)", "pathway_count": 18, "publication_count": 532, "publication_id_list": 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"class_list": "", "function": "C-terminal peptides of thrombin display antimicrobial activity against Gram-positive and Gram-negative bacteria. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive Analysis of the Role of Fibrinogen and Thrombin in Clot Formation and Structure for Plasma and Purified Fibrinogen. Publication Status: Online-Only, [RefSeq, PubMed]; The Complex Role of Thrombin in Cancer and Metastasis: Focus on Interactions with the Immune System., [RefSeq, PubMed]; This gene encodes the prothrombin protein (also known as coagulation factor II). This protein is proteolytically cleaved in multiple steps to form the activated serine protease thrombin. The activated thrombin enzyme plays an important role in thrombosis and hemostasis by converting fibrinogen to fibrin during blood clot formation, by stimulating platelet aggregation, and by activating additional coagulation factors. Thrombin also plays a role in cell proliferation, tissue repair, and angiogenesis as well as maintaining vascular integrity during development and postnatal life. Peptides derived from the C-terminus of this protein have antimicrobial activity against E. coli and P. aeruginosa. Mutations in this gene lead to various forms of thrombosis and dysprothrombinemia. Rapid increases in cytokine levels following coronavirus infections can dysregulate the coagulation cascade and produce thrombosis, compromised blood supply, and organ failure. [provided by RefSeq, May 2020]., [RefSeq]; Thrombin Priming Promotes the Neuroprotective Effects of Human Wharton's Jelly-Derived Mesenchymal Stem Cells Via the HGF/AKT/STAT3 Signaling Pathway., [RefSeq, PubMed]; Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing. Activates coagulation factor XI (F11); activation is promoted by the contact with negatively charged surfaces. Triggers the production of pro-inflammatory cytokines, such as MCP-1/CCL2 and IL8/CXCL8, in endothelial cells., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Thrombomodulin Switches Signaling and Protease-Activated Receptor 1 Cleavage Specificity of Thrombin., [RefSeq, PubMed]", "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": 2, "mined_o_glycosites": 1, "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": 6, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 7, "reported_phosphosites": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 100, "disease_count": 69, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B2R7F7;B4E1A7;Q4QZ40;Q53H04;Q53H06;Q69EZ7;Q7Z7P3;Q9UCA1", "ec_number_list": [ { "id": "2.3.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.13", "type": "external" }, { "id": "3.4.21.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.5", "type": "external" }, { "id": "3.4.21.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.6", "type": "external" }, { "id": "3.4.21.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.38", "type": "external" }, { "id": "3.4.21.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.27", "type": "external" }, { "id": "3.4.21.69", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.69", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "4.1.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.90", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0005102 signaling receptor binding;GO:0008201 heparin binding;GO:0005509 calcium ion binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0070945 neutrophil-mediated killing of gram-negative bacterium;GO:0006508 proteolysis;GO:0007166 cell surface receptor signaling pathway;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006953 acute-phase response", "synthesized_glycan_count": 0, "hit_score": 64.6, "record_id": "P00734-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100110000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV44-1", "uniprot_id": [ { "id": "THUM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV44", "type": "external" } ], "mass": 57003.0, "length": 507, "protein_name": "tRNA (guanine(6)-N(2))-methyltransferase THUMP3", "gene_name": "THUMPD3", "organism": "Human", "refseq_name": "tRNA (guanine(6)-N(2))-methyltransferase THUMP3", "refseq_ac": [ { "id": "NP_001107564", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107564", "type": "external" } ], "gene_names_uniprotkb": "THUMPD3", "gene_names_refseq": "THUMPD3", "protein_names_uniprotkb": "tRNA (guanine(6)-N(2))-methyltransferase THUMP3; 2.1.1.-; 2.1.1.256; THUMP domain-containing protein 3; tRNA(Trp) (guanine(7)-N(2))-methyltransferase THUMP3", "protein_names_refseq": "THUMP domain containing 3; THUMP domain-containing protein 3; tRNA (guanine(6)-N(2))-methyltransferase THUMP3; tRNA (guanine(6)-N2)-methyltransferase THUMP3; tRNA(Trp) (guanine(7)-N(2))-methyltransferase THUMP3", "tax_id": 9606, "disease": "", "pathway": " (hsa:25917)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;21872626;21993680;23301498;23481700;24366607;24715725;25418920;25576301;25645385;25880248;26154972;26992070;27846572;28228285;28510447;28834231;28904123;29242379;29493099;29557506;29632711;29786170;30315122;30379171;30779550;31092671;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33936100;33968037;33981976;34357683;34509645;34561969;34669960;34948388;35051231;35251023;35580925;36241641;36284347;37283053;38665916;40914422", "class_list": "", "function": "Catalytic subunit of the THUMPD3-TRM112 methyltransferase complex, that specifically mediates the S-adenosyl-L-methionine-dependent N(2)-methylation of guanosine nucleotide at position 6 (m2G6) in tRNAs (PubMed:34669960, PubMed:37283053). This is one of the major tRNA (guanine-N(2))-methyltransferases (PubMed:37283053). Also catalyzes the S-adenosyl-L-methionine-dependent N(2)-methylation of guanosine nucleotide at position 7 of tRNA(Trp) (PubMed:34669960)., [UniProtKB, PubMed, PubMed]; THUMPD3-TRMT112 is a m2G methyltransferase working on a broad range of tRNA substrates., [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": "Q9H8V6;Q9NVC1;Q9UFS3", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.256", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.256", "type": "external" } ], "go_molecular_function": "GO:0016423 tRNA (guanine) methyltransferase activity;GO:0000049 tRNA binding;GO:0160117 tRNA (guanine(6)-N2)-methyltransferase activity;GO:0160118 tRNA (guanine(7)-N2)-methyltransferase activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043527 tRNA methyltransferase complex", "go_biological_process": "GO:0030488 tRNA methylation;GO:0008033 tRNA processing;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9BV44-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92563-1", "uniprot_id": [ { "id": "TICN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92563", "type": "external" } ], "mass": 46779.0, "length": 424, "protein_name": "Testican-2", "gene_name": "SPOCK2", "organism": "Human", "refseq_name": "testican-2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001127906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127906", "type": "external" } ], "gene_names_uniprotkb": "SPOCK2; KIAA0275; PRO306; TICN2", "gene_names_refseq": "SPOCK2; testican-2", "protein_names_uniprotkb": "Testican-2; SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 2", "protein_names_refseq": "SPARC/osteonectin, CWCV, and Kazal-like domains proteoglycan 2; SPARC/osteonectin, cwcv and kazal like domains proteoglycan 2; sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2; testican-2 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9806)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1038/emboj.2013.79;10386950;12810672;12975309;15340161;17081983;17950619;19531498;21836138;23090970;23584533;24190977;25548167;26091039;27452731;29242379;29314611;29557506;29632711;30459171;30524438;32157095;32983136;33091337;33936100;35051231;35154160;37074911;37165378;37188984;38888196;39392048", "class_list": "glycogene", "function": "Candidate susceptibility gene for bronchopulmonary dysplasia; lung expression pattern indicates potential role in alveolarization, [RefSeq, PubMed]; Integrated bulk and single-cell RNA-sequencing reveals SPOCK2 as a novel biomarker gene in the development of congenital pulmonary airway malformation. Publication Status: Online-Only, [RefSeq, PubMed]; May participate in diverse steps of neurogenesis. Binds calcium., [UniProtKB]; Neurons are a major source of all of the testican family members in the normal brain. Abundant distribution of testican 2 may contribute to glioma invasion by inactivating other testican family members including N-Tes, which all inhibit MT-MMPs., [RefSeq, PubMed]; Purification and characterization of a recombinant testican-2 expressed in insect cells; the C1q subcomponent of complement component C1 was identified as a potential interacting partner of testican-2, [RefSeq, PubMed]; SPOCK2 gene expression is downregulated in pancreatic ductal adenocarcinoma cells and correlates with prognosis of patients with pancreatic cancer., [RefSeq, PubMed]; SPOCK: Master regulator of malignant tumors (Review). Review article, [RefSeq, PubMed]; The novel prognostic marker SPOCK2 regulates tumour progression in melanoma., [RefSeq, PubMed]; This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]., [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": 2, "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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 512, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "C9J767;Q6UW87", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050840 extracellular matrix binding;GO:0005539 glycosaminoglycan binding;GO:0008191 metalloendopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "GO:0030198 extracellular matrix organization;GO:0007416 synapse assembly;GO:0045595 regulation of cell differentiation;GO:2000147 positive regulation of cell motility;GO:0010810 regulation of cell-substrate adhesion", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q92563-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XE38-1", "uniprot_id": [ { "id": "SG1D4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XE38", "type": "external" } ], "mass": 9201.0, "length": 83, "protein_name": "Secretoglobin family 1D member 4", "gene_name": "SCGB1D4", "organism": "Human", "refseq_name": "secretoglobin family 1D member 4 precursor", "refseq_ac": [ { "id": "NP_996881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_996881", "type": "external" } ], "gene_names_uniprotkb": "SCGB1D4; PRO812", "gene_names_refseq": "IIS; SCGB1D4", "protein_names_uniprotkb": "Secretoglobin family 1D member 4; IFN-gamma-inducible secretoglobin; IIS", "protein_names_refseq": "IFN-gamma inducible SCGB (IIS); IFN-gamma-inducible secretoglobin; secretoglobin family 1D member 4 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:404552)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12975309;15034037;15340161;28263490", "class_list": "", "function": "Seems to be involved in the regulation of chemotactic cell migration and invasion., [UniProtKB]; Studied three single nucleotide polymorphisms (SNPs) in SCGB1D4 (secretoglobin family 1D member 4) . Found the SNPs to be associated with an increased risk of adenoid hypertrophy, as well as asthma, allergy, sleep-disordered breathing. Publication Status: Online-Only, [RefSeq, PubMed]; This interferon-gamma-inducible secretoglobin gene, SCGB1D4, is expressed in virtually all tissues, and the highest level of expression is detectable in lymph nodes, tonsil, cultured lymphoblasts, and the ovary., [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": "A1L4Q8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q6XE38-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZPB5-1", "uniprot_id": [ { "id": "SDIM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZPB5", "type": "external" } ], "mass": 16112.0, "length": 146, "protein_name": "Stress-responsive DNAJB4-interacting membrane protein 1", "gene_name": "SDIM1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SDIM1", "gene_names_refseq": "", "protein_names_uniprotkb": "Stress-responsive DNAJB4-interacting membrane protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "21255413", "class_list": "", "function": "Promotes neuronal cells survival to stress conditions., [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:0042803 protein homodimerization activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q6ZPB5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWT1-1", "uniprot_id": [ { "id": "SCN4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWT1", "type": "external" } ], "mass": 24969.0, "length": 228, "protein_name": "Sodium channel regulatory subunit beta-4", "gene_name": "SCN4B", "organism": "Human", "refseq_name": "sodium channel regulatory subunit beta-4 isoform 2", "refseq_ac": [ { "id": "NP_001135820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135820", "type": "external" } ], "gene_names_uniprotkb": "SCN4B", "gene_names_refseq": "ATFB17; LQT10; Navbeta4; SCN4B", "protein_names_uniprotkb": "Sodium channel regulatory subunit beta-4", "protein_names_refseq": "sodium channel regulatory subunit beta-4 isoform 2; sodium channel regulatory subunit beta-4; sodium channel subunit beta-4; sodium channel, voltage-gated, type IV, beta subunit", "tax_id": 9606, "disease": "long QT syndrome 10 (Disease Ontology:DOID:0110651)", "pathway": " (hsa:6330); (R-HSA-445095); (R-HSA-5576892); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;10761935;11222639;11290418;11917125;12015988;12930796;1309946;1325650;14500339;14634208;15000524;15353592;15385606;15738140;16597699;16904324;17167479;17223356;17506496;17592081;18184654;18941776;19104071;19406745;19696921;19808477;20022913;20033988;21051419;21127204;21422378;21566136;21795555;21817159;22054663;22514276;23604097;23632330;23804213;24157691;24214976;24297919;24360415;24633359;25853419;26377607;28256214;29466837;29659026;29744740;30013099;30563861;32387766;33712547;34209614;37826914;38678552;7720699;8107964;8288584;9065781", "class_list": "", "function": "Anti-NSCLC role of SCN4B by negative regulation of the cGMP-PKG pathway: Integrated utilization of bioinformatics analysis and in vitro assay validation., [RefSeq, PubMed]; Co-expression of the beta1 subunit impeded slow inactivation elicited by a 30-s depolarization, such that the voltage dependence was right shifted (depolarized) and recovery was hastened., [RefSeq, PubMed]; Loss of function mutations in sodium channel beta-subunits were identified in patients with atrial fibrillation and were associated with a distinctive ECG phenotype GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Molecular cloning and characterization of sodium channel beta4, [RefSeq, PubMed]; Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues. The accessory beta subunits participate in localization and functional modulation of the Nav channels (PubMed:24297919). Modulates the activity of SCN1A/Nav1.1 (PubMed:33712547). Modulates the activity of SCN2A/Nav1.2 (PubMed:24297919)., [UniProtKB, PubMed, PubMed]; SCN4B inhibits the progression of lung adenocarcinoma and is associated with better prognosis., [RefSeq, PubMed]; SCN4B is a long QT syndrome susceptibility gene., [RefSeq, PubMed]; The Voltage-Gated Sodium Channel Beta4 Subunit Maintains Epithelial Phenotype in Mammary Cells. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]., [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": 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": 3, "reported_glycation": 0, "reported_snv": 13, "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": "E9PPT5;Q6PIG5", "ec_number_list": [], "go_molecular_function": "GO:0017080 sodium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential;GO:0005248 voltage-gated sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0014704 intercalated disc;GO:0001518 voltage-gated sodium channel complex", "go_biological_process": "GO:0019228 neuronal action potential;GO:0042391 regulation of membrane potential;GO:0086091 regulation of heart rate by cardiac conduction;GO:0060048 cardiac muscle contraction;GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8IWT1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N228-1", "uniprot_id": [ { "id": "SCML4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N228", "type": "external" } ], "mass": 45023.0, "length": 414, "protein_name": "Sex comb on midleg-like protein 4", "gene_name": "SCML4", "organism": "Human", "refseq_name": "sex comb on midleg-like protein 4 isoform b", "refseq_ac": [ { "id": "NP_001273337", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273337", "type": "external" } ], "gene_names_uniprotkb": "SCML4", "gene_names_refseq": "SCML4; dJ47M23.1", "protein_names_uniprotkb": "Sex comb on midleg-like protein 4", "protein_names_refseq": "sex comb on midleg like 4; sex comb on midleg-like protein 4 isoform b; sex comb on midleg-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:256380)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18978678;24715725;29472232;32157095;32488085;32938616;33968037;35051231;36284347;38253038", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [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 (By similarity)., [UniProtKB]; SCML4 and THSD7A are identified as novel susceptibility genes for coronary artery disease., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B0QZ10;B0QZ11;B7ZBX3;Q5JXD0;Q5T0T6;Q8IYY6", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8N228-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92765-1", "uniprot_id": [ { "id": "SFRP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92765", "type": "external" } ], "mass": 36254.0, "length": 325, "protein_name": "Secreted frizzled-related protein 3", "gene_name": "FRZB", "organism": "Human", "refseq_name": "secreted frizzled-related protein 3 precursor", "refseq_ac": [ { "id": "NP_001454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001454", "type": "external" } ], "gene_names_uniprotkb": "FRZB; FIZ; FRE; FRP; FRZB1; SFRP3", "gene_names_refseq": "FRE; FRITZ; FRP-3; FRZB-1; FRZB-PEN; FRZB1; FRZB; FZRB; OS1; SFRP3; SRFP3; hFIZ", "protein_names_uniprotkb": "Secreted frizzled-related protein 3; Frezzled; Fritz; Frizzled-related protein 1; FrzB-1; sFRP-3", "protein_names_refseq": "frezzled; frizzled homolog-related; frizzled-related protein 1; sFRP-3; secreted frizzled-related protein 3 precursor; secreted frizzled-related protein 3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); primary sclerosing cholangitis (Disease Ontology:DOID:0060643); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); erythema nodosum (Disease Ontology:DOID:0080750); vitamin D-dependent rickets (Disease Ontology:DOID:0080883); vitamin D-dependent rickets type 2A (Disease Ontology:DOID:0080884); autosomal recessive limb-girdle muscular dystrophy type 2B (Disease Ontology:DOID:0110276); pigmentation disease (Disease Ontology:DOID:10123); prostate cancer (Disease Ontology:DOID:10283); pre-eclampsia (Disease Ontology:DOID:10591); rickets (Disease Ontology:DOID:10609); primary hyperparathyroidism (Disease Ontology:DOID:11202); osteoporosis (Disease Ontology:DOID:11476); polycystic ovary syndrome (Disease Ontology:DOID:11612); bronchopulmonary dysplasia (Disease Ontology:DOID:11650); gestational diabetes (Disease Ontology:DOID:11714); myopia (Disease Ontology:DOID:11830); otosclerosis (Disease Ontology:DOID:12185); primary biliary cholangitis (Disease Ontology:DOID:12236); vitiligo (Disease Ontology:DOID:12306); Graves' disease (Disease Ontology:DOID:12361); secondary hyperparathyroidism (Disease Ontology:DOID:12466); Behcet's disease (Disease Ontology:DOID:13241); peptic esophagitis (Disease Ontology:DOID:13976); Parkinson's disease (Disease Ontology:DOID:14330); Fabry disease (Disease Ontology:DOID:14499); breast cancer (Disease Ontology:DOID:1612); aortic valve stenosis (Disease Ontology:DOID:1712); squamous cell carcinoma (Disease Ontology:DOID:1749); melanoma (Disease Ontology:DOID:1909); hepatitis B (Disease Ontology:DOID:2043); autoimmune hepatitis (Disease Ontology:DOID:2048); multiple sclerosis (Disease Ontology:DOID:2377); basal cell carcinoma (Disease Ontology:DOID:2513); asthma (Disease Ontology:DOID:2841); pulmonary tuberculosis (Disease Ontology:DOID:2957); atopic dermatitis (Disease Ontology:DOID:3310); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); coronary artery disease (Disease Ontology:DOID:3393); Turner syndrome (Disease Ontology:DOID:3491); lung squamous cell carcinoma (Disease Ontology:DOID:3907); lung non-small cell carcinoma (Disease Ontology:DOID:3908); tuberculosis (Disease Ontology:DOID:399); esophagus adenocarcinoma (Disease Ontology:DOID:4914); liver cirrhosis (Disease Ontology:DOID:5082); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); pneumonia (Disease Ontology:DOID:552); hepatocellular carcinoma (Disease Ontology:DOID:684); rheumatoid arthritis (Disease Ontology:DOID:7148); hematopoietic system disease (Disease Ontology:DOID:74); osteoarthritis (Disease Ontology:DOID:8398); retinal degeneration (Disease Ontology:DOID:8466); psoriasis (Disease Ontology:DOID:8893); skin melanoma (Disease Ontology:DOID:8923); diabetic retinopathy (Disease Ontology:DOID:8947); Barrett's esophagus (Disease Ontology:DOID:9206); type 2 diabetes mellitus (Disease Ontology:DOID:9352); cholangitis (Disease Ontology:DOID:9446); steatotic liver disease (Disease Ontology:DOID:9452); alopecia (Disease Ontology:DOID:987); osteoarthritis susceptibility 1 (MONDO:MONDO:0008143)", "pathway": " (hsa:2487)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "15210948;15340161;17420170;19188438;28411811;29557506;29741879;30429286;33820867;33968037;34357683;34730803;35787980;37074911;38172596;39425025;8824257;9118218;9178261", "class_list": "", "function": "Exploring the predictive values of SERP4 and FRZB in dilated cardiomyopathy based on an integrated analysis. Publication Status: Online-Only, [RefSeq, PubMed]; FRZB is Regulated by the Transcription Factor EGR1 and Inhibits the Growth and Invasion of Triple-Negative Breast Cancer Cells by Regulating the JAK/STAT3 Pathway., [RefSeq, PubMed]; Long non-coding RNA expression profiling of subchondral bone reveals AC005165.1 modifying FRZB expression during osteoarthritis., [RefSeq, PubMed]; Secreted frizzled-related protein 3 was genetically and functionally associated with developmental dysplasia of the hip., [RefSeq, PubMed]; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB appears to be involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development., [UniProtKB]; The protein encoded by this gene is a secreted protein that is involved in the regulation of bone development. Defects in this gene are a cause of female-specific osteoarthritis (OA) susceptibility. [provided by RefSeq, Apr 2010]., [RefSeq]; WTAP-mediated m[6]A modification of FRZB triggers the inflammatory response via the Wnt signaling pathway in osteoarthritis., [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": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 61, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O00181;Q99686", "ec_number_list": [], "go_molecular_function": "GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0043065 positive regulation of apoptotic process;GO:0045600 positive regulation of fat cell differentiation;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0001501 skeletal system development", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q92765-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QR1-1", "uniprot_id": [ { "id": "SG3A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QR1", "type": "external" } ], "mass": 10100.0, "length": 104, "protein_name": "Secretoglobin family 3A member 1", "gene_name": "SCGB3A1", "organism": "Human", "refseq_name": "secretoglobin family 3A member 1 precursor", "refseq_ac": [ { "id": "NP_443095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443095", "type": "external" } ], "gene_names_uniprotkb": "SCGB3A1; HIN1; PNSP2; PRO1245; UGRP2", "gene_names_refseq": "HIN-1; HIN1; LU105; PnSP-2; SCGB3A1; UGRP2", "protein_names_uniprotkb": "Secretoglobin family 3A member 1; Cytokine HIN-1; High in normal 1; PnSP-2; Pneumo secretory protein 2; Uteroglobin-related protein 2", "protein_names_refseq": "cytokine HIN-1; cytokine high in normal-1; high in normal 1; pneumo secretory protein 2; secretoglobin family 3A member 1 precursor; uteroglobin-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:92304)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11481438;11682631;12406855;12727813;12975309;15340161;25752997;26370119;28823693;29557506;30418048;30459171;31844290;34561969", "class_list": "", "function": "HOXA9, RASSF1A and SCGB3A1 promoter methylation significantly associated with testicular germ cell tumor stage., [RefSeq, PubMed]; Secreted cytokine-like protein. Inhibits cell growth in vitro., [UniProtKB, PubMed]; Some single nucleotide polymorphisms and their combinations in the Ugrp2 gene are associated with an increased risk of developing adenoid hypertrophy., [RefSeq, PubMed]; Sporadic breast tumors with a 'BRCA1-like' histopathological phenotype also demonstrated significantly lower frequency of HIN-1 promoter methylation., [RefSeq, PubMed]; The role of high in normal-1 (HIN-1) as a potential biomarker in combating glioblastoma is being described for the first time in this study., [RefSeq, PubMed]; Tumor-adjacent tissues showed higher methylation status of RASSF1A, HIN-1 and MGMT promoters. 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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": "Q96PL0", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0042127 regulation of cell population proliferation;GO:0030308 negative regulation of cell growth;GO:1901741 positive regulation of myoblast fusion", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96QR1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZV3-1", "uniprot_id": [ { "id": "SC5A7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZV3", "type": "external" } ], "mass": 63204.0, "length": 580, "protein_name": "High affinity choline transporter 1", "gene_name": "SLC5A7", "organism": "Human", "refseq_name": "high affinity choline transporter 1 isoform a", "refseq_ac": [ { "id": "NP_001291934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291934", "type": "external" } ], "gene_names_uniprotkb": "SLC5A7; CHT1", "gene_names_refseq": "CHT1; CHT; CMS20; DHMNVP; HMN7A; HMND7; SLC5A7; hCHT1", "protein_names_uniprotkb": "High affinity choline transporter 1; CHT; Hemicholinium-3-sensitive choline transporter; Solute carrier family 5 member 7; hCHT1", "protein_names_refseq": "Motor neuronopathy, distal hereditary, type VIIA; Motor neuronopathy, distal hereditary, with vocal cord paresis; hemicholinium-3-sensitive choline transporter; high affinity choline transporter 1 isoform a; high affinity choline transporter 1; high affinity choline transporter; solute carrier family 5 (sodium/choline cotransporter), member 7", "tax_id": 9606, "disease": "congenital myasthenic syndrome 20 (Disease Ontology:DOID:0110661); autosomal dominant distal hereditary motor neuronopathy 7 (Disease Ontology:DOID:0111199); major depressive disorder (Disease Ontology:DOID:1470); depressive disorder (Disease Ontology:DOID:1596); asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:60482); (R-HSA-264642); (R-HSA-5619114); (R-HSA-5658471); (R-HSA-9958517)", "pathway_count": 5, "publication_count": 32, "publication_id_list": "10440375;11027560;11068039;12237312;12406342;12519779;12969261;1339386;15935055;15953352;17005849;17092608;17478680;17491011;17891149;17989281;22483273;23132865;23141292;27569547;29557506;29789417;32938616;33141586;33592498;34185709;35051231;37938771;39135055;40972734;8071310;9701566", "class_list": "", "function": "Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. Publication Status: Online-Only, [RefSeq, PubMed]; High-affinity Na(+)-coupled choline transmembrane symporter (PubMed:11027560, PubMed:11068039, PubMed:12237312, PubMed:12969261, PubMed:17005849, PubMed:23132865, PubMed:23141292, PubMed:27569547, PubMed:40972734). Functions as an electrogenic, voltage-dependent transporter with variable charge/choline stoichiometry (PubMed:17005849). Choline uptake and choline-induced current is also Cl(-)-dependent where Cl(-) is likely a regulatory ion rather than cotransported ion (PubMed:11068039, PubMed:12237312, PubMed:17005849). Plays a critical role in acetylcholine (ACh) synthesis by taking up the substrate choline from the synaptic cleft into the presynaptic nerve terminals after neurotransmitter release (PubMed:27569547). SLC5A7/CHT1-mediated choline high-affinity transport in cholinergic neurons is the rate-limiting step for production of ACh, thereby facilitating communication by subsequent action potentials (PubMed:11027560). Localized predominantly in presynaptic terminal intracellular organelles, and translocated to the plasma membrane in active form in response to neuronal activity (PubMed:12969261, PubMed:15953352)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; High-affinity choline transporter, choline transporter 1, in nerve fibers and epithelial cells in the human and rat skin supporting the pivotal role of this transporter in both the neuronal and non-neuronal cholinergic system of the skin., [RefSeq, PubMed]; Results describe the identification and functional characterization of a single nucleotide polymorphism in the high affinity choline transporter (CHT1) gene., [RefSeq, PubMed]; This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]., [RefSeq]; [review] The critical role of CHT in maintaining cholinergic transmission indicates that it could be a target for therapeutic intervention to promote acetylcholine synthesis, the accomplishment of which has not been adequately addressed. Review article, [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": 7, "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": "Q53TF2", "ec_number_list": [], "go_molecular_function": "GO:0033265 choline binding;GO:0015220 choline transmembrane transporter activity;GO:0005307 choline:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0031594 neuromuscular junction", "go_biological_process": "GO:0007271 synaptic transmission, cholinergic;GO:0007274 neuromuscular synaptic transmission;GO:0015721 bile acid and bile salt transport;GO:0008292 acetylcholine biosynthetic process;GO:0015871 choline transport", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9GZV3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZW5-1", "uniprot_id": [ { "id": "SCND2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZW5", "type": "external" } ], "mass": 34217.0, "length": 306, "protein_name": "Putative SCAN domain-containing protein SCAND2P", "gene_name": "SCAND2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SCAND2P; SCAND2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative SCAN domain-containing protein SCAND2P; SCAN domain-containing protein 2 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11056053;28904123", "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": "A8K374;Q9H9G1", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9GZW5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ03-1", "uniprot_id": [ { "id": "SCRT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ03", "type": "external" } ], "mass": 32584.0, "length": 307, "protein_name": "Transcriptional repressor scratch 2", "gene_name": "SCRT2", "organism": "Human", "refseq_name": "transcriptional repressor scratch 2", "refseq_ac": [ { "id": "NP_149120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149120", "type": "external" } ], "gene_names_uniprotkb": "SCRT2; FP7030", "gene_names_refseq": "SCRT2; ZNF898B", "protein_names_uniprotkb": "Transcriptional repressor scratch 2; Scratch homolog 2 zinc finger protein", "protein_names_refseq": "scratch 2 protein; scratch family zinc finger 2; scratch homolog 2, zinc finger protein; transcriptional repressor scratch 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:85508)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "23434913;30379171;31154438;33912179", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Scratch2 and scratch1 are expressed upon neuronal fate commitment under the control of proneural genes to promote cell migration in the developing neocortex., [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": 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": "", "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:0070888 E-box 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:0006355 regulation of DNA-templated transcription;GO:1902042 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9NQ03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQW1-1", "uniprot_id": [ { "id": "SC31B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQW1", "type": "external" } ], "mass": 128697.0, "length": 1179, "protein_name": "Protein transport protein Sec31B", "gene_name": "SEC31B", "organism": "Human", "refseq_name": "protein transport protein Sec31B", "refseq_ac": [ { "id": "NP_056305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056305", "type": "external" } ], "gene_names_uniprotkb": "SEC31B; SEC31L2", "gene_names_refseq": "SEC31B-1; SEC31B; SEC31L2", "protein_names_uniprotkb": "Protein transport protein Sec31B; SEC31-like protein 2; SEC31-related protein B; SEC31B-1", "protein_names_refseq": "SEC31 homolog B, COPII coat complex component; SEC31 homolog B, COPII coating complex component; SEC31-like 2; SEC31-like protein 2; SEC31-related protein B; protein transport protein Sec31B; secretory pathway component Sec31B-1", "tax_id": 9606, "disease": "Halperin-Birk syndrome (Disease Ontology:DOID:0070539)", "pathway": " (hsa:25956); (R-HSA-204005)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11927603;12070132;12235121;15037235;16303754;16385451;16495487;16624868;16912714;17005010;17038314;17192411;17287728;17316621;17562788;17684057;18843296;19164740;19638414;19656848;20545907;20679433;20966969;21478858;21532587;21689688;22013193;22157747;22358839;22675024;23378591;23479643;23698585;23864707;24119662;24917561;25202031;25406594;25492864;25586378;25619252;28832583;29242379;29557506;31844290;32897882;32938616;33392160;33968037;35051231;35494241;35580925;36215666;36241641;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "As a component of the coat protein complex II (COPII), may function in vesicle budding and cargo export from the endoplasmic reticulum., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The SEC31B protein is an orthologue of Saccharomyces cerevisiae Sec31p, a component of the COPII vesicle coat that mediates vesicular traffic from the endoplasmic reticulum., [RefSeq, PubMed]; This gene encodes a protein of unknown function. The protein has moderate similarity to rat VAP1 protein which is an endosomal membrane-associated protein, containing a putative Ca2+/calmodulin-dependent kinase II phosphorylation site. [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": 0, "reported_glycation": 0, "reported_snv": 12, "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": "B7ZM75;Q6MZS3;Q86UF0;Q9Y4Q8", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0070971 endoplasmic reticulum exit site;GO:0030120 vesicle coat", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0015031 protein transport;GO:1902953 positive regulation of ER to Golgi vesicle-mediated transport;GO:0070863 positive regulation of protein exit from endoplasmic reticulum;GO:0007029 endoplasmic reticulum organization", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9NQW1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5Y9-1", "uniprot_id": [ { "id": "SCNAA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5Y9", "type": "external" } ], "mass": 220626.0, "length": 1956, "protein_name": "Sodium channel protein type 10 subunit alpha", "gene_name": "SCN10A", "organism": "Human", "refseq_name": "sodium channel protein type 10 subunit alpha isoform 2", "refseq_ac": [ { "id": "NP_001280235", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280235", "type": "external" } ], "gene_names_uniprotkb": "SCN10A", "gene_names_refseq": "FEPS2; Nav1.8; PN3; SCN10A; SNS", "protein_names_uniprotkb": "Sodium channel protein type 10 subunit alpha; PN3; Peripheral nerve sodium channel 3; Sodium channel protein type X subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.8; hPN3", "protein_names_refseq": "peripheral nerve sodium channel 3; sensory neuron sodium channel; sodium channel protein type 10 subunit alpha isoform 2; sodium channel protein type 10 subunit alpha; sodium channel protein type X subunit alpha; sodium channel, voltage-gated, type X, alpha polypeptide; sodium channel, voltage-gated, type X, alpha subunit; voltage-gated sodium channel subunit alpha Nav1.8", "tax_id": 9606, "disease": "generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); Dravet syndrome (Disease Ontology:DOID:0080422); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); familial episodic pain syndrome 2 (Disease Ontology:DOID:0111730); sciatic neuropathy (Disease Ontology:DOID:11446); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6336); (R-HSA-445095); (R-HSA-5576892)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "11222639;11237011;11290418;1309946;14500339;15000524;16597699;16904324;17223356;18184654;18354022;19406745;21127204;21248752;21566136;21817159;22054663;22426212;22514276;23115331;23481700;23804213;29557506;29786170;31530632;31844290;32387766;33141586;33968037;34171305;34405274;34561969;35051231;35580925;36010968;36140801;37122207;37217939;37373335;37938771;38263802;38999942;8107964;9839820", "class_list": "", "function": "Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Analysis of SCN11A, SCN10A, and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria. Publication Status: Online-Only, [RefSeq, PubMed]; Heterologous expression of the human wild-type and variant NaV 1.8 (A1073V) in rat sensory neurons., [RefSeq, PubMed]; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient., [UniProtKB, UniProtKB, UniProtKB]; Molecular and Functional Relevance of NaV1.8-Induced Atrial Arrhythmogenic Triggers in a Human SCN10A Knock-Out Stem Cell Model. Publication Status: Online-Only, [RefSeq, PubMed]; Patient-specific induced pluripotent stem cell properties implicate Ca[2+]-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants., [RefSeq, PubMed]; Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The protein encoded by this gene is a tetrodotoxin-resistant voltage-gated sodium channel alpha subunit. The properties of the channel formed by the encoded transmembrane protein can be altered by interaction with different beta subunits. This protein may be involved in the onset of pain associated with peripheral neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]., [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 116, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A6NDQ1", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0044325 transmembrane transporter binding;GO:0005248 voltage-gated sodium channel activity;GO:0099508 voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0070062 extracellular exosome;GO:0042734 presynaptic membrane", "go_biological_process": "GO:0007600 sensory perception;GO:0086010 membrane depolarization during action potential;GO:0042475 odontogenesis of dentin-containing tooth;GO:0055117 regulation of cardiac muscle contraction;GO:0035725 sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9Y5Y9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14994-1", "uniprot_id": [ { "id": "SYN3_HUMAN", "url": "https://www.uniprot.org/uniprot/O14994", "type": "external" } ], "mass": 63303.0, "length": 580, "protein_name": "Synapsin-3", "gene_name": "SYN3", "organism": "Human", "refseq_name": "synapsin-3 isoform IIIa", "refseq_ac": [ { "id": "NP_003481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003481", "type": "external" } ], "gene_names_uniprotkb": "SYN3", "gene_names_refseq": "SYN3", "protein_names_uniprotkb": "Synapsin-3; Synapsin III", "protein_names_refseq": "cN28H9.2 (synapsin III); synapsin-3 isoform IIIa; synapsin-3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:8224); (R-HSA-181429); (R-HSA-212676)", "pathway_count": 3, "publication_count": 28, "publication_id_list": "11237011;11840510;12519779;14732590;15935055;17478680;17891149;17989281;18477386;18617632;23363473;23481700;2892215;29330884;29557506;31154438;32387766;32488085;33298915;35077325;35254053;37166614;39302247;40596516;7823026;9539796;9701566;9753324", "class_list": "", "function": "A missense polymorphism, S470N, was identified in the synapsin III gene and appeared more frequently in individuals with schizophrenia. The site affected by the polymorphism, Ser470, was determined to be a substrate for mitogen-activated protein kinase., [RefSeq, PubMed]; Evidence is not in favor of a large effect of synapsin III gene in the pathogenesis of schizophrenia. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Investigation of possible associations of the BDNF, SNAP-25 and SYN III genes with the neurocognitive measures: BDNF and SNAP-25 genes might be involved in attention domain, SYN III gene in executive function., [RefSeq, PubMed]; May be involved in the regulation of neurotransmitter release and synaptogenesis., [UniProtKB]; Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder., [RefSeq, PubMed]; Synapsin III is a crucial alpha-synuclein interactant and a key component of Lewy bodies fibrils in the brain of patients affected by Parkinson's disease., [RefSeq, PubMed]; This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [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": 10, "reported_mutagensis": 0, "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": "B1B1F9", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098850 extrinsic component of synaptic vesicle membrane;GO:0014069 postsynaptic density;GO:0030672 synaptic vesicle membrane;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0097091 synaptic vesicle clustering;GO:0050808 synapse organization;GO:0007269 neurotransmitter secretion;GO:0032228 regulation of synaptic transmission, GABAergic", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "O14994-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6XYQ8-1", "uniprot_id": [ { "id": "SYT10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6XYQ8", "type": "external" } ], "mass": 59127.0, "length": 523, "protein_name": "Synaptotagmin-10", "gene_name": "SYT10", "organism": "Human", "refseq_name": "synaptotagmin-10", "refseq_ac": [ { "id": "NP_945343", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_945343", "type": "external" } ], "gene_names_uniprotkb": "SYT10", "gene_names_refseq": "SYT10", "protein_names_uniprotkb": "Synaptotagmin-10; Synaptotagmin X; SytX", "protein_names_refseq": "synaptotagmin X; synaptotagmin-10; sytX", "tax_id": 9606, "disease": "", "pathway": " (hsa:341359); (R-HSA-6794361); (R-HSA-9768919)", "pathway_count": 3, "publication_count": 32, "publication_id_list": "11237011;11604393;14701734;14756426;15540461;16242404;16624946;16846852;17897391;18812509;18829961;20064387;20064388;20519524;20977903;21282647;21368041;24291638;24465693;25378172;27472814;31848261;32350084;32983136;34087483;35251023;7695896;7736595;8576240;9069287;9808458;9927700", "class_list": "", "function": "Ca(2+) sensor specifically required for the Ca(2+)-dependent exocytosis of secretory vesicles containing IGF1 in neurons of the olfactory bulb. Exocytosis of IGF1 is required for sensory perception of smell. Not involved in Ca(2+)-dependent synaptic vesicle exocytosis (By similarity). Acts through Ca(2+) and phospholipid binding to the C2 domain: Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This cDNA clone is 3287 bp and contains an open reading frame from 299 to 1870 encoding a putative protein of 523 amino acids. It shares 94.6 and 94.8% homology to rat Syt 10 and mouse Syt 10 at protein level, respectively., [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": 13, "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": "Q495U2", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030658 transport vesicle membrane;GO:0070382 exocytic vesicle;GO:0098793 presynapse", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0016192 vesicle-mediated transport;GO:0007608 sensory perception of smell;GO:0006887 exocytosis;GO:0045956 positive regulation of calcium ion-dependent exocytosis", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q6XYQ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08842-1", "uniprot_id": [ { "id": "STS_HUMAN", "url": "https://www.uniprot.org/uniprot/P08842", "type": "external" } ], "mass": 65492.0, "length": 583, "protein_name": "Steryl-sulfatase", "gene_name": "STS", "organism": "Human", "refseq_name": "steryl-sulfatase isoform 1 precursor", "refseq_ac": [ { "id": "NP_001307682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307682", "type": "external" } ], "gene_names_uniprotkb": "STS; ARSC1", "gene_names_refseq": "ARSC1; ARSC; ASC; ES; SSDD; STS; XLI", "protein_names_uniprotkb": "Steryl-sulfatase; 3.1.6.2; ASC; Arylsulfatase C; Estrone sulfatase; Steroid sulfatase; Steryl-sulfate sulfohydrolase", "protein_names_refseq": "arylsulfatase C; estrone sulfatase; steroid sulfatase (microsomal), isozyme S; steryl-sulfatase isoform 1 precursor; steryl-sulfatase; steryl-sulfate sulfohydrolase", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); cryptorchidism (Disease Ontology:DOID:11383); X-linked ichthyosis (Disease Ontology:DOID:1700)", "pathway": " (hsa:412); (R-HSA-1663150); (R-HSA-196071); (R-HSA-9840310)", "pathway_count": 4, "publication_count": 160, "publication_id_list": "10.1101/2023.09.13.557529;10191093;10196694;10406958;10679952;10781797;10823942;10844566;10861246;10942779;10993717;11237011;11350180;11489889;11707436;11784319;12374214;12510003;12518053;12566438;12594539;12657638;12662933;12757705;12757706;12885774;12888274;12909021;1352293;1352993;14563551;15003450;15213228;1539590;15458386;15657036;15708861;15714521;15773042;15845354;15962010;1606923;16229686;16230343;1634229;16368756;16478472;16517606;16595074;16698036;1670590;1678251;17105727;1718266;1720305;1740330;1756715;17601726;18180093;1840600;18524657;1889421;1907800;1915858;19405096;19429462;19836391;2001789;20728381;23466819;23481700;235289;239890;24190977;25576301;2562955;25880248;26375851;2668275;2717620;2765556;27846572;28126847;28228285;28904123;29242379;29393594;29443946;2953589;29557506;2960521;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29802621;3014515;30315122;3032454;30429286;3048308;3136930;31495489;31530632;3158659;31844290;31998317;3203382;32157095;32387766;32502341;32938616;33298915;33691108;33717175;33936100;33968037;34171305;34509645;3456607;34675221;35051231;35580925;36010968;36427797;36789964;37074911;37895274;38665916;39940;5135907;5164093;527942;5822067;6417417;7504405;7628016;7730378;7744740;7852280;8281145;8370580;8399327;8573994;8591035;8663398;8681943;8804427;8889578;8955159;8985184;9217013;9252398;9338580;9520418;9521684;9699462", "class_list": "glycogene", "function": "Biallelic mutations in FLG, TGM1, and STS genes segregated with different types of ichthyoses in eight families of Pakistani origin., [RefSeq, PubMed]; Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid., [UniProtKB, PubMed, PubMed, PubMed]; STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Steroid sulfatase deficiency causes cellular senescence and abnormal differentiation by inducing Yippee-like 3 expression in human keratinocytes. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of human placental steroid sulfatase at 2.0 angstrom resolution: Catalysis, quaternary association, and a secondary ligand site., [RefSeq, PubMed]; The regulation of STS transcription appears to be more complex than previously thought, suggesting that this enzyme plays a substantial role in intercellular integration., [RefSeq, PubMed]; This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]., [RefSeq]; Two new splicing patterns found in prostate and ovary cells; report gene expression analysis for the simultaneous detection, in qualitative and/or semi-quantitative terms, of the transcription patterns of STS in different tissues, [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": 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": 251, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RA47", "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:0004773 steryl-sulfatase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0008544 epidermis development;GO:0007565 female pregnancy;GO:0006706 steroid catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "P08842-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100001000.111.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7N4-1", "uniprot_id": [ { "id": "T191B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7N4", "type": "external" } ], "mass": 39065.0, "length": 346, "protein_name": "Transmembrane protein 191B", "gene_name": "TMEM191B", "organism": "Human", "refseq_name": "transmembrane protein 191B", "refseq_ac": [ { "id": "NP_001229242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229242", "type": "external" } ], "gene_names_uniprotkb": "TMEM191B", "gene_names_refseq": "TMEM191B", "protein_names_uniprotkb": "Transmembrane protein 191B", "protein_names_refseq": "transmembrane protein 191B", "tax_id": 9606, "disease": "", "pathway": " (hsa:728229)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;18477386", "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": "A0A087WXW8", "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": "P0C7N4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3YBM2-1", "uniprot_id": [ { "id": "T176B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3YBM2", "type": "external" } ], "mass": 29056.0, "length": 270, "protein_name": "Transmembrane protein 176B", "gene_name": "TMEM176B", "organism": "Human", "refseq_name": "transmembrane protein 176B isoform a", "refseq_ac": [ { "id": "NP_001094781", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094781", "type": "external" } ], "gene_names_uniprotkb": "TMEM176B; LR8", "gene_names_refseq": "LR8; MS4B2; TMEM176B", "protein_names_uniprotkb": "Transmembrane protein 176B; Protein LR8", "protein_names_refseq": "LR8-like protein; transmembrane protein 176B isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:28959)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "16095493;22244448;24275569;27009467;28467828;29557506;31154438;32983136;33392160;34943938;35251023;35580925;35980484;9922225", "class_list": "", "function": "Human TMEM176A and 176B protein levels are significantly elevated in lymphoma, but not in normal tissues, [RefSeq, PubMed]; May play a role in the process of maturation of dendritic cells. Required for the development of cerebellar granule cells (By similarity)., [UniProtKB]; Study characterized Tmem176a and b expression in RORgamma t+ lymphocytes at transcriptional and protein levels and present evidence that both genes exert a redundant ion channel function related to a colocalisation in close proximity to the Golgi apparatus. Publication Status: Online-Only, [RefSeq, PubMed]; TMEM176B Regulates AKT/mTOR Signaling and Tumor Growth in Triple-Negative Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The Ala134Thr variant in TMEM176B exerts a beneficial role in colorectal cancer prognosis by increasing NLRP3 inflammasome 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": 4, "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": "B2RDK2;D3DWZ7;E9PAV4;Q5BJI2;Q9BT42;Q9Y609", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031965 nuclear membrane", "go_biological_process": "GO:0030154 cell differentiation;GO:0009887 animal organ morphogenesis;GO:2001199 negative regulation of dendritic cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q3YBM2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4KMP7-1", "uniprot_id": [ { "id": "TB10B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4KMP7", "type": "external" } ], "mass": 87199.0, "length": 808, "protein_name": "TBC1 domain family member 10B", "gene_name": "TBC1D10B", "organism": "Human", "refseq_name": "TBC1 domain family member 10B", "refseq_ac": [ { "id": "NP_056342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056342", "type": "external" } ], "gene_names_uniprotkb": "TBC1D10B; FP2461", "gene_names_refseq": "EPI64B; FP2461; TBC1D10B", "protein_names_uniprotkb": "TBC1 domain family member 10B; Rab27A-GAP-beta", "protein_names_refseq": "Rab27A-GAPbeta; TBC1 domain family member 10B; rab27A-GAP-beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:26000); (R-HSA-8854214)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10202141;11237011;15302935;15498874;16055087;16395330;16923811;17081983;17658474;17901050;18199687;18220336;18319245;18466115;18669648;19077034;19413330;19651622;19690332;20058876;20068231;20095038;20116244;20166139;20363736;20404108;21383079;21458671;22219378;22613832;22762500;22795129;22854040;23019362;23186163;23481700;23562278;24275569;24366607;24715725;25880248;26154972;26811146;26992070;27846572;28063628;28228285;28446606;28510447;28657654;28832583;28904123;29242379;29393594;29557506;29632046;29789417;30315122;30429286;30779550;31092671;31217245;31527750;31530632;31844290;32119511;32157095;32161166;32357974;32387766;32397798;32574038;32897882;33298915;33392160;33592498;33912179;33968037;33981976;34211107;34725712;34757852;34932366;35051231;35138101;35254053;36010968;36241641;37217939;37340703;37541260;38665916;38824479;39302247;39531497", "class_list": "", "function": "Acts as a GTPase-activating protein for RAB3A, RAB22A, RAB27A, and RAB35. Does not act on RAB2A and RAB6A., [UniProtKB, PubMed, PubMed]; Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins. Publication Status: Online-Only, [RefSeq, PubMed]; STAT4-mediated down-regulation of miR-3619-5p facilitates stomach adenocarcinoma by modulating TBC1D10B., [RefSeq, PubMed]; Small G proteins of the RAB family (see MIM 179508) function in intracellular vesicle trafficking by switching from the GTP-bound state to the GDP-bound state with the assistance of guanine nucleotide exchange factors (GEFs; see MIM 609700) and GTPase-activating proteins (GAPs). TBC1D10B functions as a GAP for several proteins of the Rab family (Ishibashi et al., 2009 [PubMed 19077034]).[supplied by OMIM, Nov 2010]., [RefSeq]; TBC1D10B promotes tumor progression in colon cancer via PAK4-mediated promotion of the PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (dagger)., [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": 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": 1, "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": "B9A6L0;Q6IN54;Q6P530;Q71RG7;Q86VC5;Q9H8Z2;Q9NUN6;Q9UFP2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0043087 regulation of GTPase activity;GO:0042147 retrograde transport, endosome to Golgi", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q4KMP7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4VX76-1", "uniprot_id": [ { "id": "SYTL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4VX76", "type": "external" } ], "mass": 68560.0, "length": 610, "protein_name": "Synaptotagmin-like protein 3", "gene_name": "SYTL3", "organism": "Human", "refseq_name": "synaptotagmin-like protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001009991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009991", "type": "external" } ], "gene_names_uniprotkb": "SYTL3; SLP3", "gene_names_refseq": "SLP3; SYTL3", "protein_names_uniprotkb": "Synaptotagmin-like protein 3; Exophilin-6", "protein_names_refseq": "exophilin-6; synaptotagmin-like protein 3 isoform 2; synaptotagmin-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:94120)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11773082;26768311;28832583;29242379;29493099;30429286;31844290;32502341;33657377;34171305;34932366;35051231;35289036;35580925", "class_list": "", "function": "May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids in the presence of calcium ions (By similarity)., [UniProtKB]; Synaptotagmin-like protein 3-a (Slp3-a) contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slp3-a specifically and directly binds the GTP-bound form of Rab27A., [RefSeq, PubMed]; The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]., [RefSeq]; Transcriptional networks identify synaptotagmin-like 3 as a regulator of cortical neuronal migration during early neurodevelopment., [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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q496J4;Q496J6;Q5U3B9", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0005544 calcium-dependent phospholipid binding;GO:0042043 neurexin family protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070382 exocytic vesicle", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q4VX76-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWL2-1", "uniprot_id": [ { "id": "SUSD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWL2", "type": "external" } ], "mass": 82710.0, "length": 747, "protein_name": "Sushi domain-containing protein 1", "gene_name": "SUSD1", "organism": "Human", "refseq_name": "sushi domain-containing protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001269569", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269569", "type": "external" } ], "gene_names_uniprotkb": "SUSD1; PRO4999", "gene_names_refseq": "SUSD1", "protein_names_uniprotkb": "Sushi domain-containing protein 1", "protein_names_refseq": "sushi domain-containing protein 1 isoform 1 precursor; sushi domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64420)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;16263699;20583170;22299025;23090970;24190977;24366607;27920218;28446606;28832583;29242379;29393594;31092671;31844290;32387766;32502341;32938616;32983136;33592498;33968037;34171305;34411563;35051231;35289036;35580925;36215666;36284347;37074911", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 10, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 10, "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": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "A1A4C5;A8KA03;Q5T8V6;Q5T8V7;Q6P9G7;Q8WU83;Q96DM9;Q9H6V2;Q9NTA7", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q6UWL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L3T8-1", "uniprot_id": [ { "id": "SYPM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L3T8", "type": "external" } ], "mass": 53263.0, "length": 475, "protein_name": "Probable proline--tRNA ligase, mitochondrial", "gene_name": "PARS2", "organism": "Human", "refseq_name": "probable proline--tRNA ligase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_689481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689481", "type": "external" } ], "gene_names_uniprotkb": "PARS2", "gene_names_refseq": "DEE75; EIEE75; MT-PRORS; PARS2; proRS", "protein_names_uniprotkb": "Probable proline--tRNA ligase, mitochondrial; 6.1.1.15; ProRS; Prolyl-tRNA synthetase 2, mitochondrial; Prolyl-tRNA synthetase", "protein_names_refseq": "probable proline--tRNA ligase, mitochondrial precursor; proline tRNA ligase 2, mitochondrial (putative); prolyl-tRNA synthetase 2, mitochondrial (putative)", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 75 (Disease Ontology:DOID:0112211)", "pathway": " (hsa:25973); (R-HSA-379726)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10329163;10684970;10764807;10828066;12690580;15274629;15779907;16300924;17384640;17847012;23263184;25629079;27348859;28077841;28832583;28834231;29410512;29915213;30237576;31844290;31848261;33298915;33968037;34585293;35051231;37956963;7755634;8078941;9278442;9466989", "class_list": "", "function": "Depending on available data of six patients from three families, we describe a phenotype linked to PARS2 pathological variants. This phenotype includes: early epileptic encephalopathy, infantile spasms, and Alpers-like brain MRI changes with predominance of frontal cerebral volume loss (FCVL-AS)., [RefSeq, PubMed]; Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the proline amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis. The reaction occurs in a two steps: proline is first activated by ATP to form Pro-AMP and then transferred to the acceptor end of tRNA(Pro)., [UniProtKB, PubMed]; Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75., [RefSeq, PubMed]; Study provides further evidence for validating the role of PARS2 in the pathology of related infantile-onset encephalopathy, contributing to the phenotypic features of this condition, and providing clinical and molecular insight for the diagnosis of this disease entity., [RefSeq, PubMed]; The PARS2 gene produced a significant association signal in a recent replication study of all known CRS-associations and is now the first human gene to be re-sequenced within CRS research. PARS2 showed an accumulation of low-frequency variants in CRS patients compared to background populations. Publication Status: Online-Only, [RefSeq, PubMed]; The individuals with PARS2 and NARS2 mutations demonstrate similar neurological features as those previously reported, with diversity in clinical presentation such as hearing loss and seizure type. Erratum:[J Hum Genet. 2017 Apr;62(5):587. doi: 10.1038/jhg.2017.13. PMID: 28202951], [RefSeq, PubMed]; This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]., [RefSeq]; Unusual 2.0 A structure showing that ATP directly locks onto and orients two parts of halofuginone (HF) onto human ProRS, so that one part of HF mimics bound proline and the other mimics the 3' end of bound tRNA., [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": "A8K0W4;Q9H6S5;Q9UFT1", "ec_number_list": [ { "id": "6.1.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.15", "type": "external" }, { "id": "6.1.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.17", "type": "external" } ], "go_molecular_function": "GO:0004827 proline-tRNA ligase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006433 prolyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q7L3T8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z422-1", "uniprot_id": [ { "id": "SZRD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z422", "type": "external" } ], "mass": 16997.0, "length": 152, "protein_name": "SUZ RNA-binding domain-containing", "gene_name": "SZRD1", "organism": "Human", "refseq_name": "SUZ RNA-binding domain-containing isoform 1", "refseq_ac": [ { "id": "NP_001108072", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001108072", "type": "external" } ], "gene_names_uniprotkb": "SZRD1; C1orf144", "gene_names_refseq": "C1orf144; SZRD1", "protein_names_uniprotkb": "SUZ RNA-binding domain-containing; Putative MAPK-activating protein PM18/PM20/PM22; SUZ domain-containing protein 1", "protein_names_refseq": "SUZ RNA-binding domain-containing isoform 1; SUZ RNA-binding domain-containing; SUZ domain-containing protein 1; UPF0485 protein C1orf144; putative MAPK activating protein PM20,PM21; putative MAPK-activating protein PM18/PM20/PM22", "tax_id": 9606, "disease": "", "pathway": " (hsa:26099)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;12761501;17081983;17287340;17924679;18669648;18707149;19415658;19651622;19690332;20068231;21406692;23186163;23481700;24275569;24715725;26154972;27846572;27920218;28063628;28832583;28904123;29242379;29393594;29508533;29557506;29632711;29786170;31092671;31154438;31373491;31492838;31844290;31848261;32157095;32161166;32350084;32502341;32938616;33015801;33123756;33141586;33298915;34171305;34211107;35051231;35251023;35394558;37217939;40596516", "class_list": "", "function": "Hsa_circ_0008344 Promotes Glioma Tumor Progression and Angiogenesis Presumably by Regulating miR-638/SZRD1 Pathway., [RefSeq, PubMed]; Long non-coding RNA LINC00346 regulates proliferation and apoptosis by targeting miR-128-3p/SZRD1 axis 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": 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": 10, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8MXJ2;C9K0U0;Q7Z424;Q8IVM2;Q8TBV3;Q9Y403", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q7Z422-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZU3-1", "uniprot_id": [ { "id": "SYCP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZU3", "type": "external" } ], "mass": 27729.0, "length": 236, "protein_name": "Synaptonemal complex protein 3", "gene_name": "SYCP3", "organism": "Human", "refseq_name": "synaptonemal complex protein 3", "refseq_ac": [ { "id": "NP_001171419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171419", "type": "external" } ], "gene_names_uniprotkb": "SYCP3; SCP3", "gene_names_refseq": "COR1; RPRGL4; SCP3; SPGF4; SYCP3", "protein_names_uniprotkb": "Synaptonemal complex protein 3; SCP-3", "protein_names_refseq": "synaptonemal complex protein 3", "tax_id": 9606, "disease": "spermatogenic failure 4 (Disease Ontology:DOID:0070176); azoospermia (Disease Ontology:DOID:14227)", "pathway": " (hsa:50511); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "11673449;12213195;14643120;15125634;15235794;19110213;19146767;20634189;20934997;24950965;28623914;28745000;32157095;8794855;9008167;9285814", "class_list": "", "function": "Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity)., [UniProtKB, UniProtKB, PubMed]; SCP3 is associated with lymphangiogenesis and provides insight into the SCP3-VEGF-C/VEGF-D axis based cancer therapy strategy. Publication Status: Online-Only, [RefSeq, PubMed]; SYCP3 binds to RAD51 and attenuates RAD51 activity during meiosis., [RefSeq, PubMed]; This gene encodes an essential structural component of the synaptonemal complex. This complex is involved in synapsis, recombination and segregation of meiotic chromosomes. Mutations in this gene are associated with azoospermia in males and susceptibility to pregnancy loss in females. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2010]., [RefSeq]; We suggest that SYCP3 has an essential meiotic function in human spermatogenesis that is compromised by the mutant protein via dominant negative interference. 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": 3, "reported_mutagensis": 4, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0000775 chromosome, centromeric region;GO:0000800 lateral element;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0051301 cell division;GO:0007286 spermatid development;GO:0007129 homologous chromosome pairing at meiosis;GO:0007131 reciprocal meiotic recombination;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8IZU3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3T6-1", "uniprot_id": [ { "id": "T132C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3T6", "type": "external" } ], "mass": 121787.0, "length": 1108, "protein_name": "Transmembrane protein 132C", "gene_name": "TMEM132C", "organism": "Human", "refseq_name": "transmembrane protein 132C isoform 1 precursor", "refseq_ac": [ { "id": "NP_001129575", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129575", "type": "external" } ], "gene_names_uniprotkb": "TMEM132C", "gene_names_refseq": "PPP1R152; TMEM132C", "protein_names_uniprotkb": "Transmembrane protein 132C", "protein_names_refseq": "protein phosphatase 1, regulatory subunit 152; transmembrane protein 132C isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:92293)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "23481700;26992070;28228285;29237092;29557506;32983136;34171305;34405274;34932366;35051231;35580925;37938771", "class_list": "", "function": "", "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": 45, "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": "Q69YX8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8N3T6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3V7-1", "uniprot_id": [ { "id": "SYNPO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3V7", "type": "external" } ], "mass": 99463.0, "length": 929, "protein_name": "Synaptopodin", "gene_name": "SYNPO", "organism": "Human", "refseq_name": "synaptopodin isoform B", "refseq_ac": [ { "id": "NP_001103444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103444", "type": "external" } ], "gene_names_uniprotkb": "SYNPO; KIAA1029", "gene_names_refseq": "SYNPO1; SYNPO", "protein_names_uniprotkb": "Synaptopodin", "protein_names_refseq": "synaptopodin isoform B", "tax_id": 9606, "disease": "chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:11346)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "12042308;15592455;15659229;17081983;18220336;18596123;18669648;19159218;20068230;20068231;22424782;23186163;23481700;24275569;24715725;26154972;28657654;29237092;29557506;30059200;30379171;30429286;30620550;30661770;30833945;31154438;31492838;31597702;31844290;31848261;32157095;32398370;32897882;33298915;33592498;33968037;34185709;34405274;34725712;35051231;35254053;35580925;36010968;37340703;38665916;39531497;39534244;40136647;9314539", "class_list": "", "function": "Actin-associated protein that may play a role in modulating actin-based shape and motility of dendritic spines and renal podocyte foot processes. Seems to be essential for the formation of spine apparatuses in spines of telencephalic neurons, which is involved in synaptic plasticity (By similarity)., [UniProtKB]; Interaction with tight junction protein MAGI-1, [RefSeq, PubMed]; Microbiota-derived butyrate dynamically regulates intestinal homeostasis through regulation of actin-associated protein synaptopodin., [RefSeq, PubMed]; Our data suggest dendritic spine accumulation of SYNPO critically depends on interaction with postsynaptic alpha-actinin and that SYNPO may regulate spine morphology, motility and function via its distinct modes of association with the actin cytoskeleton., [RefSeq, PubMed]; Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008]., [RefSeq]; We show that recombinant human KIBRA WW2 domain is primarily disordered, binds SYNPO with relatively weak affinity and remains largely disordered in the 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "A5PKZ8;D3DQG8;O15271;Q9UPX1", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005829 cytosol;GO:0005923 bicellular tight junction;GO:0014069 postsynaptic density", "go_biological_process": "GO:0032233 positive regulation of actin filament bundle assembly;GO:0051492 regulation of stress fiber assembly;GO:1905355 spine apparatus assembly", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q8N3V7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9I0-1", "uniprot_id": [ { "id": "SYT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9I0", "type": "external" } ], "mass": 46872.0, "length": 419, "protein_name": "Synaptotagmin-2", "gene_name": "SYT2", "organism": "Human", "refseq_name": "synaptotagmin-2", "refseq_ac": [ { "id": "NP_001129976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129976", "type": "external" } ], "gene_names_uniprotkb": "SYT2", "gene_names_refseq": "CMS7A; CMS7B; CMS7; MYSPC; SYT2; SytII", "protein_names_uniprotkb": "Synaptotagmin-2; Synaptotagmin II; SytII", "protein_names_refseq": "synaptotagmin II; synaptotagmin-2", "tax_id": 9606, "disease": "congenital myasthenic syndrome 7 (Disease Ontology:DOID:0110659); congenital myasthenic syndrome (Disease Ontology:DOID:3635); neuromuscular junction disease (Disease Ontology:DOID:439); myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive (MONDO:MONDO:0030341)", "pathway": " (hsa:127833); (R-HSA-5250958); (R-HSA-6794361); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 5, "publication_count": 244, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10932256;10983987;11071885;11076969;11082044;11231140;11239472;11247302;11381094;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11604393;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12459720;12464600;12717448;12847086;12944396;12952949;12958364;1317852;1331807;14504267;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15217342;15252009;15260957;15318165;15339664;15350218;1535555;15473838;15502812;15502813;15540461;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16242404;16326391;16410077;16459302;16460808;16516836;16624946;16707488;16723738;16798879;16846852;16880396;16903783;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17897391;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18812509;18819912;18829961;18981233;19092055;19140243;19234194;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20064387;20064388;20211604;20231386;20233039;20351096;20428113;20448150;20519524;20826345;20946875;21102408;2115402;21187331;21278753;21282647;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21925111;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22720883;22815487;22863004;22942912;23297414;23536704;23823722;23861397;23891661;23999003;24130457;24186068;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25192047;25303366;25341920;25378172;26042225;26403691;26829388;28218747;2890644;29437277;32250532;32776697;33105646;33320396;33659639;34037996;3417785;34211107;38253038;6146630;7569928;7695896;7736595;7803399;7822302;7877694;8402889;8524399;8552632;8553074;8576240;8837779;9069287;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9712688;9723620;9736607;9808458;9812899;9927700", "class_list": "", "function": "Exhibits calcium-dependent phospholipid and inositol polyphosphate binding properties (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, UniProtKB, PubMed]; Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy. Erratum:[Am J Hum Genet. 2014 Oct 2;95(4):472. Gonzales, Michael [corrected to Gonzalez, Michael]], [RefSeq, PubMed]; This gene encodes a synaptic vesicle membrane protein. The encoded protein is thought to function as a calcium sensor in vesicular trafficking and exocytosis. Mutations in this gene are associated with myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]., [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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q496K5;Q8NBE5", "ec_number_list": [], "go_molecular_function": "GO:0043533 inositol 1,3,4,5 tetrakisphosphate binding;GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030424 axon;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0030672 synaptic vesicle membrane;GO:0070382 exocytic vesicle", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0016192 vesicle-mediated transport;GO:0017158 regulation of calcium ion-dependent exocytosis;GO:2000300 regulation of synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 24.7, "record_id": "Q8N9I0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBL3-1", "uniprot_id": [ { "id": "T178A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBL3", "type": "external" } ], "mass": 33019.0, "length": 297, "protein_name": "Transmembrane protein 178A", "gene_name": "TMEM178A", "organism": "Human", "refseq_name": "transmembrane protein 178A isoform 2", "refseq_ac": [ { "id": "NP_001161431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161431", "type": "external" } ], "gene_names_uniprotkb": "TMEM178A; PRO19820; PSEC0131; TMEM178", "gene_names_refseq": "TMEM178A; TMEM178", "protein_names_uniprotkb": "Transmembrane protein 178A", "protein_names_refseq": "transmembrane protein 178A isoform 2; transmembrane protein 178", "tax_id": 9606, "disease": "", "pathway": " (hsa:130733)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12975309;16303743;26644563;35051231", "class_list": "", "function": "Acts as a negative regulator of osteoclast differentiation in basal and inflammatory conditions by regulating TNFSF11-induced Ca (2+) fluxes, thereby controlling the induction of NFATC1., [UniProtKB, UniProtKB]; Tmem178 localizes to the ER membrane and regulates RANKL-induced Ca(2+) fluxes, thus controlling NFATc1 induction, [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": 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": "Q6UWI6;Q8N6N4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0051480 regulation of cytosolic calcium ion concentration;GO:0045671 negative regulation of osteoclast differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NBL3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92777-1", "uniprot_id": [ { "id": "SYN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92777", "type": "external" } ], "mass": 62996.0, "length": 582, "protein_name": "Synapsin-2", "gene_name": "SYN2", "organism": "Human", "refseq_name": "synapsin-2 isoform IIb", "refseq_ac": [ { "id": "NP_003169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003169", "type": "external" } ], "gene_names_uniprotkb": "SYN2", "gene_names_refseq": "SYN2; SYNII", "protein_names_uniprotkb": "Synapsin-2; Synapsin II", "protein_names_refseq": "synapsin-2 isoform IIb; synapsin-2", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); epilepsy (Disease Ontology:DOID:1826); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:6854); (R-HSA-181429); (R-HSA-212676)", "pathway_count": 3, "publication_count": 29, "publication_id_list": "10565545;10571231;11237011;12519779;15449241;15935055;17478680;17891149;17989281;18510355;18617632;23363473;23406870;27515700;28657654;2892215;29242379;29557506;29763751;32387766;33592498;33981976;34846842;35051231;36215666;7823026;8964517;9701566;9753324", "class_list": "", "function": "Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. May play a role in noradrenaline secretion by sympathetic neurons (By similarity)., [UniProtKB]; Our findings support that ASB16-AS1 and SYN2 may represent two novel functional genes underlying bone mineral density variation, [RefSeq, PubMed]; These findings contribute to previous work showing dysregulation of Synapsins, particularly SYN2, in mood disorders and improve our understanding of the regulatory mechanisms that precipitate these changes likely leading to the BD or MDD phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 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": 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": 4, "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": "A0A087WW96;A0A087X2E3;A8MY98", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0045202 synapse;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0097091 synaptic vesicle clustering;GO:0050808 synapse organization;GO:0007268 chemical synaptic transmission;GO:0007269 neurotransmitter secretion;GO:0017156 calcium-ion regulated exocytosis", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q92777-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969N4-1", "uniprot_id": [ { "id": "TAAR8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969N4", "type": "external" } ], "mass": 38029.0, "length": 342, "protein_name": "Trace amine-associated receptor 8", "gene_name": "TAAR8", "organism": "Human", "refseq_name": "trace amine-associated receptor 8", "refseq_ac": [ { "id": "NP_444508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_444508", "type": "external" } ], "gene_names_uniprotkb": "TAAR8; GPR102; TA5; TAR5; TRAR5", "gene_names_refseq": "GPR102; TA5; TAAR8; TAR5; TRAR5; TaR-5; TaR-8", "protein_names_uniprotkb": "Trace amine-associated receptor 8; G protein-coupled receptor 102; TaR-5; TaR-8; Trace amine receptor 5; Trace amine receptor 8", "protein_names_refseq": "G-protein coupled receptor 102; trace amine receptor 5; trace amine receptor 8; trace amine-associated receptor 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:83551); (R-HSA-375280); (R-HSA-418555)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "11007482;11459929;11574155;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15765929;15769620;15951850;16313925;16687412;16878137;16923326;17168849;17218486;18044684;18577758;18828673;19105585;19876791;19929708;20381629;21036126;2163110;21885028;2417744;24687066;2491850;25391046;2553411;2553705;25892735;26417854;2871555;29443750;29602314;29769354;30833991;31154438;3127824;31279028;31399091;31983287;32226383;32387766;32497535;32540603;32618402;32715661;33049737;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "For the first time is confirmed basal Gi/o signaling activity for TAAR8. Publication Status: Online-Only, [RefSeq, PubMed]; Olfactory receptor specific for trace amines (By similarity). Trace amine compounds are enriched in animal body fluids and act on trace amine-associated receptors (TAARs) to elicit both intraspecific and interspecific innate behaviors (By similarity). Ligand-binding causes a conformation change that triggers signaling via G alpha proteins, possibly G(i)/G(o) G alpha proteins (PubMed:25391046)., [UniProtKB, UniProtKB, PubMed]; Previous studies reported TAAR expression in brain. This paper found TAAR expression only in olfactory epithelial cells and that each TAAR detects a unique set of amine ligands. TAARs seem to function as a family of chemosensory receptors for amines., [RefSeq, PubMed]; This gene is part of the trace amine receptor cluster on chromosome 6 and encodes an orphan G-protein coupled receptor. Upregulated expression of this gene in astroglial cells upon exposure to lipopolysaccharides suggests a function for the encoded protein in the brain. [provided by RefSeq, Jul 2016]., [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": "Q5VUQ0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0001594 trace-amine receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q969N4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7C4-1", "uniprot_id": [ { "id": "SYNCI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7C4", "type": "external" } ], "mass": 55299.0, "length": 482, "protein_name": "Syncoilin", "gene_name": "SYNC", "organism": "Human", "refseq_name": "syncoilin isoform 2", "refseq_ac": [ { "id": "NP_001155180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001155180", "type": "external" } ], "gene_names_uniprotkb": "SYNC; SYNC1", "gene_names_refseq": "SYNC1; SYNCOILIN; SYNC", "protein_names_uniprotkb": "Syncoilin; Syncoilin intermediate filament 1; Syncoilin-1", "protein_names_refseq": "intermediate filament protein syncoilin; syncoilin intermediate filament 1; syncoilin isoform 2; syncoilin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81493)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;16124004;19651622;20068231;20587592;23186163;29242379;30429286;32157095;32387766;32938616;33592498;33734892;34087483;35051231;36010968", "class_list": "", "function": "Atypical type III intermediate filament (IF) protein that may play a supportive role in the efficient coupling of mechanical stress between the myofibril and fiber exterior. May facilitate lateral force transmission during skeletal muscle contraction. Does not form homofilaments nor heterofilaments with other IF proteins., [UniProtKB, UniProtKB]; Elevated SYNC Expression Is Associated with Gastric Tumorigenesis and Infiltration of M2-Polarized Macrophages in the Gastric Tumor Immune Microenvironment. Erratum:[Genet Test Mol Biomarkers. 2021 May;25(5):383-384. doi: 10.1089/gtmb.2020.0131.correx. PMID: 34003696], [RefSeq, PubMed]; Syncoilin modulates peripherin filament network formation., [RefSeq, PubMed]; The result of this study raise the possibility that mutations in the gene encoding for syncoilin may underlie some forms of muscle disease., [RefSeq, PubMed]; This gene encodes a member of the intermediate filament family which contains an N-terminal head domain, followed by a central coiled-coil region and a short C-terminal tail. The protein is highly expressed in skeletal and cardiac muscle. The protein links the dystrophin associated protein complex (DAPC) to desmin filaments in muscle and may have a structural role in striated muscle. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DNK8;B4DY58;C9IY41", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0031594 neuromuscular junction;GO:0048471 perinuclear region of cytoplasm;GO:0005882 intermediate filament;GO:0042383 sarcolemma", "go_biological_process": "GO:0045103 intermediate filament-based process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9H7C4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGM6-1", "uniprot_id": [ { "id": "SYWM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGM6", "type": "external" } ], "mass": 40147.0, "length": 360, "protein_name": "Tryptophan--tRNA ligase, mitochondrial", "gene_name": "WARS2", "organism": "Human", "refseq_name": "tryptophan--tRNA ligase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_056651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056651", "type": "external" } ], "gene_names_uniprotkb": "WARS2", "gene_names_refseq": "NEMMLAS; PKDYS3; TrpRS; WARS2; mtTrpRS", "protein_names_uniprotkb": "Tryptophan--tRNA ligase, mitochondrial; (Mt)TrpRS; 6.1.1.2; TrpRS; Tryptophanyl-tRNA synthetase", "protein_names_refseq": "(Mt)TrpRS; tryptophan tRNA ligase 2, mitochondrial; tryptophan--tRNA ligase, mitochondrial isoform 1 precursor; tryptophan--tRNA ligase, mitochondrial", "tax_id": 9606, "disease": "mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures (Disease Ontology:DOID:0070751); movement disease (Disease Ontology:DOID:480); mitochondrial metabolism disease (Disease Ontology:DOID:700); parkinsonism-dystonia 3, childhood-onset (MONDO:MONDO:0030676)", "pathway": " (hsa:10352); (R-HSA-379726)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10329163;10684970;10764807;10828066;12690580;14757836;15274629;15779907;16300924;17384640;17847012;20068231;20707881;24714562;24715725;25576301;25645385;26154972;26375851;26728094;26811146;26992070;27397612;27600516;27846572;28228285;28236339;28510447;28650581;28834231;28905505;29120065;29242379;29508533;29557506;29632711;29786170;29789417;30315122;30379171;30410026;30429286;30920170;31844290;31970218;32157095;32387766;32488085;32502341;32983136;33007465;33592498;33717175;33721618;33912179;33936100;34185709;34357683;34890876;34932366;35051231;35074316;35580925;36284347;37107582;37217939;37938771;40596516;7755634;8078941;9278442;9466989", "class_list": "", "function": "A lead candidate functional single nucleotide polymorphism within the WARS2 gene associated with waist-hip-ratio does not alter RNA stability., [RefSeq, PubMed]; Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Catalyzes the attachment of tryptophan to tRNA(Trp) in a two-step reaction: tryptophan is first activated by ATP to form Trp-AMP and then transferred to the acceptor end of tRNA(Trp)., [UniProtKB, PubMed]; Mini-TrpRS is essential for IFNgamma-induced monocyte-derived giant cell formation., [RefSeq, PubMed]; Tandem promoters provide a dual system to regulate expression and alternative splicing of human TrpRS in vivo Publication Status: Online-Only, [RefSeq, PubMed]; The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This case expands the phenotypic spectrum of WARS2 deficiency and emphasizes the importance of mitochondrial protein synthesis in the pathogenesis of Parkinsonism., [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": 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": "B1ALR1;B2R9D4;Q53FT4;Q5VUD2;Q86TQ0", "ec_number_list": [ { "id": "6.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.2", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004830 tryptophan-tRNA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0045766 positive regulation of angiogenesis;GO:0006418 tRNA aminoacylation for protein translation;GO:0070183 mitochondrial tryptophanyl-tRNA aminoacylation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9UGM6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5J9-1", "uniprot_id": [ { "id": "TIM8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5J9", "type": "external" } ], "mass": 9344.0, "length": 83, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim8 B", "gene_name": "TIMM8B", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim8 B", "refseq_ac": [ { "id": "NP_036591", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036591", "type": "external" } ], "gene_names_uniprotkb": "TIMM8B; DDP2; DDPL; TIM8B", "gene_names_refseq": "DDP2; TIM8B; TIMM8B", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim8 B; DDP-like protein; Deafness dystonia protein 2", "protein_names_refseq": "DDP-like protein; deafness dystonia protein 2; mitochondrial import inner membrane translocase subunit Tim8 B", "tax_id": 9606, "disease": "deafness-dystonia-optic neuronopathy syndrome (Disease Ontology:DOID:0050757)", "pathway": " (hsa:26521); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10552927;10611480;11237011;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19913121;19962426;20593814;20628086;20877624;21750375;22223895;23041349;23597483;23811401;24366607;25315652;25418920;25576301;26375851;26697887;27846572;27920218;28063628;28218747;28832583;29242379;29393594;29493099;29508533;29557506;29632046;29632711;30524438;31844290;32157095;32387766;32488085;32502341;32897882;32938616;33392160;33936100;33968037;33981976;34171305;35051231;35318648;35580925;36241641;37938771", "class_list": "", "function": "Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space., [UniProtKB, UniProtKB]; 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]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Probable mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 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": 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": "B0YJA5;Q3KQS9;Q9UN04", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0140318 protein transporter activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0042719 mitochondrial intermembrane space chaperone complex;GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0015031 protein transport;GO:0045039 protein insertion into mitochondrial inner membrane;GO:0006626 protein targeting to mitochondrion;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9Y5J9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK28-1", "uniprot_id": [ { "id": "TM59L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK28", "type": "external" } ], "mass": 37619.0, "length": 342, "protein_name": "Transmembrane protein 59-like", "gene_name": "TMEM59L", "organism": "Human", "refseq_name": "transmembrane protein 59-like precursor", "refseq_ac": [ { "id": "NP_036241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036241", "type": "external" } ], "gene_names_uniprotkb": "TMEM59L; BSMAP; C19orf4", "gene_names_refseq": "BSMAP; C19orf4; TMEM59L", "protein_names_uniprotkb": "Transmembrane protein 59-like; Brain-specific membrane-anchored protein", "protein_names_refseq": "brain-specific membrane-anchored protein; transmembrane protein 59-like precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:25789)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10.1101/2023.09.13.557529;10527841;11237011;20427278;30315122;31154438;32938616;37439405", "class_list": "", "function": "Expression of TMEM59L associated with radiosensitive in glioblastoma., [RefSeq, PubMed]; Modulates the O-glycosylation and complex N-glycosylation steps occurring during the Golgi maturation of APP. Inhibits APP transport to the cell surface and further shedding., [UniProtKB, PubMed]; This gene encodes a predicted type-I membrane glycoprotein. The encoded protein may play a role in functioning of the central nervous system. [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": 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": 9, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0016020 membrane", "go_biological_process": "GO:0001658 branching involved in ureteric bud morphogenesis", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9UK28-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DKB5-1", "uniprot_id": [ { "id": "TPBGL_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DKB5", "type": "external" } ], "mass": 40400.0, "length": 382, "protein_name": "Trophoblast glycoprotein-like", "gene_name": "TPBGL", "organism": "Human", "refseq_name": "trophoblast glycoprotein-like precursor", "refseq_ac": [ { "id": "NP_001182457", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182457", "type": "external" } ], "gene_names_uniprotkb": "TPBGL", "gene_names_refseq": "TPBGL", "protein_names_uniprotkb": "Trophoblast glycoprotein-like", "protein_names_refseq": "trophoblast glycoprotein-like precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:100507050)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "29557506;32502341;32938616;35051231", "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": 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:0005886 plasma membrane", "go_biological_process": "GO:0090090 negative regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0DKB5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P47974-1", "uniprot_id": [ { "id": "TISD_HUMAN", "url": "https://www.uniprot.org/uniprot/P47974", "type": "external" } ], "mass": 51063.0, "length": 494, "protein_name": "mRNA decay activator protein ZFP36L2", "gene_name": "ZFP36L2", "organism": "Human", "refseq_name": "mRNA decay activator protein ZFP36L2", "refseq_ac": [ { "id": "NP_008818", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008818", "type": "external" } ], "gene_names_uniprotkb": "ZFP36L2; ERF2; RNF162C; TIS11D", "gene_names_refseq": "BRF2; ERF-2; ERF2; OOMD13; OZEMA13; RNF162C; TIS11D; ZFP36L2", "protein_names_uniprotkb": "mRNA decay activator protein ZFP36L2; Butyrate response factor 2; EGF-response factor 2; ERF-2; TPA-induced sequence 11d; ZFP36-like 2; Zinc finger protein 36, C3H1 type-like 2", "protein_names_refseq": "EGF-response factor 2; TPA-induced sequence 11d; ZFP36 ring finger protein like 2; ZFP36-like 2; butyrate response factor 2 (EGF-response factor 2); mRNA decay activator protein ZFP36L2; zinc finger protein 36, C3H type-like 1; zinc finger protein 36, C3H type-like 2; zinc finger protein 36, C3H1 type-like 2; zinc finger protein, C3H type, 36-like 2", "tax_id": 9606, "disease": "oocyte maturation defect 13 (MONDO:MONDO:0859330)", "pathway": " (hsa:678); (R-HSA-9820841)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10367403;10570294;14604009;14981510;17172869;18669648;18991276;19651622;20068231;20166898;20506496;21109922;21406692;23186163;23301498;23783831;24029068;24715725;25106868;25418920;25576301;25880248;25892735;26154972;26758079;26929215;26992070;27182009;27600516;27846572;27862975;27869121;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29769354;29786170;30315122;30410026;30429286;30524438;31154438;31217245;31844290;31848261;32157095;32387766;32488085;32502341;32502391;32897882;32938616;32983136;33298915;33691108;33936100;33968037;34171305;34211107;34509645;34611029;34647228;35051231;35580925;36240223;36284347;36581221;37430263;38321215;38665916;39178021;7835719;8545129", "class_list": "", "function": "Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes. Erratum:[J Hum Genet. 2024 Apr;69(3-4):169. doi: 10.1038/s10038-024-01239-4. PMID: 38443624], [RefSeq, PubMed]; Polymorphisms sequenced in genomic DNA encoding the TTP protein (ZFP36) and those of its two known mammalian relatives, ZFP36L1 and ZFP36L2, from 72 to 92 anonymous human subjects from various geographical and ethnic backgrounds, [RefSeq, PubMed]; Sequence specificity in RNA recognition is achieved by a network of intermolecular hydrogen bonds, mostly between TIS11d main-chain functional groups and the Watson-Crick edges of the bases, [RefSeq, PubMed]; TREC mediated oncogenesis in human immature T lymphoid malignancies preferentially involves ZFP36L2. Publication Status: Online-Only, [RefSeq, PubMed]; These data suggest TIS11D as a candidate p53 target gene that may be part of the network of genes responsible for p53-dependent apoptosis., [RefSeq, PubMed]; This gene is a member of the TIS11 family of early response genes. Family members are induced by various agonists such as the phorbol ester TPA and the polypeptide mitogen EGF. The encoded protein contains a distinguishing putative zinc finger domain with a repeating cys-his motif. This putative nuclear transcription factor most likely functions in regulating the response to growth factors. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants in NLRP2 and ZFP36L2, non-core components of the human subcortical maternal complex, cause female infertility with embryonic development arrest., [RefSeq, PubMed]; Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis (PubMed:14981510, PubMed:25106868, PubMed:34611029). Acts as a 3'-untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery (PubMed:25106868). Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE-containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes (PubMed:25106868). Binds to 3'-UTR ARE of numerous mRNAs (PubMed:14981510, PubMed:20506496, PubMed:25106868). Promotes ARE-containing mRNA decay of the low-density lipoprotein (LDL) receptor (LDLR) mRNA in response to phorbol 12-myristate 13-acetate (PMA) treatment in a p38 MAPK-dependent manner (PubMed:25106868). Positively regulates early adipogenesis by promoting ARE-mediated mRNA decay of immediate early genes (IEGs). Plays a role in mature peripheral neuron integrity by promoting ARE-containing mRNA decay of the transcriptional repressor REST mRNA. Plays a role in ovulation and oocyte meiotic maturation by promoting ARE-mediated mRNA decay of the luteinizing hormone receptor LHCGR mRNA. Acts as a negative regulator of erythroid cell differentiation: promotes glucocorticoid-induced self-renewal of erythroid cells by binding mRNAs that are induced or highly expressed during terminal erythroid differentiation and promotes their degradation, preventing erythroid cell differentiation. In association with ZFP36L1 maintains quiescence on developing B lymphocytes by promoting ARE-mediated decay of several mRNAs encoding cell cycle regulators that help B cells progress through the cell cycle, and hence ensuring accurate variable-diversity-joining (VDJ) recombination process and functional immune cell formation. Together with ZFP36L1 is also necessary for thymocyte development and prevention of T-cell acute lymphoblastic leukemia (T-ALL) transformation by promoting ARE-mediated mRNA decay of the oncogenic transcription factor NOTCH1 mRNA., [UniProtKB, PubMed, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53TB4;Q9BSJ3", "ec_number_list": [], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0035925 mRNA 3'-UTR AU-rich region binding;GO:0160134 protein-RNA sequence-specific adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0045577 regulation of B cell differentiation;GO:0043488 regulation of mRNA stability;GO:0009611 response to wounding;GO:0070371 ERK1 and ERK2 cascade;GO:0030097 hemopoiesis", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P47974-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01085-1", "uniprot_id": [ { "id": "TIAR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01085", "type": "external" } ], "mass": 41591.0, "length": 375, "protein_name": "Nucleolysin TIAR", "gene_name": "TIAL1", "organism": "Human", "refseq_name": "nucleolysin TIAR isoform 2", "refseq_ac": [ { "id": "NP_001029097", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001029097", "type": "external" } ], "gene_names_uniprotkb": "TIAL1", "gene_names_refseq": "TCBP; TIAL1; TIAR", "protein_names_uniprotkb": "Nucleolysin TIAR; TIA-1-related protein", "protein_names_refseq": "T-cluster binding protein; TIA-1-related nucleolysin; TIA1 related; aging-associated gene 7 protein; nucleolysin TIAR isoform 2; nucleolysin TIAR", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224)", "pathway": " (hsa:7073); (R-HSA-6803529)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10613902;10938105;10982855;11237011;12393912;1326761;15592455;15601847;16410617;16449636;16603716;17135269;17488725;17959601;18452278;18573884;18691976;1906035;19285943;19608861;20068231;20932473;20934997;21136679;22121020;24366607;24714562;24715725;25505266;25576301;26154972;26992070;27862975;28904123;29437277;29493099;29557506;30315122;30379171;30410026;30429286;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33968037;34019948;34171305;34185709;34357683;35051231;35561310;35580925;36010968;36284347;37699883;37938771;38665916;39302247;40596516;8576255;9271388;9858549", "class_list": "", "function": "RNA binding protein TIAR modulates HBV replication by tipping the balance of pgRNA translation. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein involved in alternative pre-RNA splicing and in cytoplasmic stress granules formation (PubMed:10613902, PubMed:1326761, PubMed:17488725, PubMed:8576255). Shows a preference for uridine-rich RNAs (PubMed:8576255). Activates splicing of alternative exons with weak 5' splice sites followed by a U-rich stretch on its own pre-mRNA and on TIA1 mRNA (By similarity). Promotes the inclusion of TIA1 exon 5 to give rise to the long isoform (isoform a) of TIA1 (PubMed:17488725). Acts downstream of the stress-induced phosphorylation of EIF2S1/EIF2A to promote the recruitment of untranslated mRNAs to cytoplasmic stress granules (SG) (PubMed:10613902). Possesses nucleolytic activity against cytotoxic lymphocyte target cells (PubMed:1326761). May be involved in apoptosis (PubMed:1326761)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [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": 0, "reported_glycation": 0, "reported_snv": 6, "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": "A8K3T0;A8K4L9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003730 mRNA 3'-UTR binding;GO:0140517 protein-RNA adaptor activity;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005764 lysosome", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006952 defense response;GO:0008285 negative regulation of cell population proliferation;GO:0006915 apoptotic process;GO:2000637 positive regulation of miRNA-mediated gene silencing", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q01085-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13641-1", "uniprot_id": [ { "id": "TPBG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13641", "type": "external" } ], "mass": 46032.0, "length": 420, "protein_name": "Trophoblast glycoprotein", "gene_name": "TPBG", "organism": "Human", "refseq_name": "trophoblast glycoprotein precursor", "refseq_ac": [ { "id": "NP_001159864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159864", "type": "external" } ], "gene_names_uniprotkb": "TPBG; 5T4", "gene_names_refseq": "5T4AG; 5T4; M6P1; TPBG; WAIF1", "protein_names_uniprotkb": "Trophoblast glycoprotein; 5T4 oncofetal antigen; 5T4 oncofetal trophoblast glycoprotein; 5T4 oncotrophoblast glycoprotein; M6P1; WAIF1; Wnt-activated inhibitory factor 1", "protein_names_refseq": "5T4 oncofetal antigen; 5T4 oncofetal trophoblast glycoprotein; 5T4 oncotrophoblast glycoprotein; trophoblast glycoprotein precursor; wnt-activated inhibitory factor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7162)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;12481437;16303743;19159218;20068231;22100263;23090970;24190977;24582434;25576301;27780858;28183528;28481180;29557506;29741879;30429286;30459171;31018661;31154438;31222486;31686124;31844290;32350084;32387766;32938616;33214551;33592498;33968037;34019948;34087483;34171305;34561969;35051231;35154160;35318648;35452205;37074911;37390984;37938771;41018975;8132670", "class_list": "", "function": "Collectively, these findings demonstrate that an anti-5T4 antibody-drug conjugate reduces the fraction of cancer stem cells (CSC), and prevents local recurrence and suggest a novel therapeutic approach for patients with head and neck squamous cell carcinoma., [RefSeq, PubMed]; In extravillous trophoblasts, 5T4 may function in epithelial-to-mesenchymal transition during placentation. The role of syncytiotrophoblast 5T4 is unknown, but its abundance in shed syncytial vesicles may signify route of sensitization of the maternal immune system., [RefSeq, PubMed]; LINC00342 induces metastasis of lung adenocarcinoma by targeting miR-15b/TPBG., [RefSeq, PubMed]; May function as an inhibitor of Wnt/beta-catenin signaling by indirectly interacting with LRP6 and blocking Wnt3a-dependent LRP6 internalization., [UniProtKB, PubMed]; TPBG orchestrates the migratory and angiogenic activities of pericytes through the activation of the CXCL12/CXCR7/pERK axis., [RefSeq, PubMed]; This gene encodes a leucine-rich transmembrane glycoprotein that may be involved in cell adhesion. The encoded protein is an oncofetal antigen that is specific to trophoblast cells. In adults this protein is highly expressed in many tumor cells and is associated with poor clinical outcome in numerous cancers. Alternate splicing in the 5' UTR results in multiple transcript variants that encode the same protein. [provided by RefSeq, Oct 2009]., [RefSeq]; We obtained GWS evidence (P < 2.7 x 10(-6)) for gene-based association in the total sample with a novel locus, TPBG (P = 1.8 x 10(-6))., [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": 5, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K555", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0030425 dendrite;GO:0043679 axon terminus", "go_biological_process": "GO:0007155 cell adhesion;GO:0090090 negative regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q13641-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q24JQ0-1", "uniprot_id": [ { "id": "S35D4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q24JQ0", "type": "external" } ], "mass": 32647.0, "length": 296, "protein_name": "UDP-N-acetylglucosamine transporter SLC35D4", "gene_name": "SLC35D4", "organism": "Human", "refseq_name": "UDP-N-acetylglucosamine transporter SLC35D4 isoform 1", "refseq_ac": [ { "id": "NP_116322", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116322", "type": "external" } ], "gene_names_uniprotkb": "SLC35D4; C18orf45; TMEM241", "gene_names_refseq": "C18orf45; SLC35D4; TMEM241; hVVT", "protein_names_uniprotkb": "UDP-N-acetylglucosamine transporter SLC35D4; Solute carrier family 35 member D4; Transmembrane protein 241", "protein_names_refseq": "UDP-N-acetylglucosamine transporter SLC35D4 isoform 1; UDP-N-acetylglucosamine transporter SLC35D4; UDP-N-acetylglucosamine transporter TMEM241; putative vertebrate vrg4-like nucleotide-sugar transporter truncated variant2; putative vertebrate vrg4-like nucleotide-sugar transporter variant1; transmembrane protein 241; transmembrane protein C18orf45", "tax_id": 9606, "disease": "", "pathway": " (hsa:85019)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11237011;18452278;20546612;23027870;23481700;25418920;26992070;27199446;28228285;28904123;29557506;30315122;31844290;32265295;32357974;33392160;35051231;35494241;36010968;37890669", "class_list": "", "function": "Golgi-localized UDP-N-acetylglucosamine (UDP-GlcNAc) transporter that transports UDP-N-acetylglucosamine into Golgi lumen. Contributes to lysosomal targeting of NPC2, a key protein required for lysosomal cholesterol exiting, and that utilizes the mannose-6-phosphate (M6P) modification pathway for its lysosomal targeting., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The Mexican genome-wide association study signal for high serum triglycerides on chromosome 18q11.2 harbors a regulatory single-nucleotide polymorphism, rs17259126, which disrupts normal hepatocyte nuclear factor 4 alpha binding and decreases the expression of the regional TMEM241 gene. Our data suggest that decreased transcript levels of TMEM241 contribute to increased triglyceride levels in Mexicans., [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": 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": "I0J130;Q6ZTS7;Q6ZW41", "ec_number_list": [], "go_molecular_function": "GO:0015297 antiporter activity;GO:0005462 UDP-N-acetylglucosamine transmembrane transporter activity;GO:0005458 GDP-mannose transmembrane transporter activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:1990570 GDP-mannose transmembrane transport;GO:1990569 UDP-N-acetylglucosamine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q24JQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4W5G0-1", "uniprot_id": [ { "id": "TIGD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4W5G0", "type": "external" } ], "mass": 59623.0, "length": 525, "protein_name": "Tigger transposable element-derived protein 2", "gene_name": "TIGD2", "organism": "Human", "refseq_name": "tigger transposable element-derived protein 2", "refseq_ac": [ { "id": "NP_663761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_663761", "type": "external" } ], "gene_names_uniprotkb": "TIGD2", "gene_names_refseq": "HEL106; TIGD2", "protein_names_uniprotkb": "Tigger transposable element-derived protein 2", "protein_names_refseq": "epididymis luminal protein 106; tigger transposable element-derived protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:166815)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "17081983;23481700;24715725;25576301;26154972;26992070;27600516;28218747;28228285;28904123;29242379;29393594;29437277;29786170;30379171;30429286;31154438;31844290;31937595;32387766;32488085;32502341;33141586;33298915;33912179;33981976;34087483", "class_list": "", "function": "The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q4W5G0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T0D9-1", "uniprot_id": [ { "id": "TPRGL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T0D9", "type": "external" } ], "mass": 30212.0, "length": 272, "protein_name": "Tumor protein p63-regulated gene 1-like protein", "gene_name": "TPRG1L", "organism": "Human", "refseq_name": "tumor protein p63-regulated gene 1-like protein", "refseq_ac": [ { "id": "NP_877429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_877429", "type": "external" } ], "gene_names_uniprotkb": "TPRG1L; FAM79A; MOVER", "gene_names_refseq": "FAM79A; SVAP30; TPRG1L; TPRGL; h-mover; mover", "protein_names_uniprotkb": "Tumor protein p63-regulated gene 1-like protein; Mossy fiber terminal-associated vertebrate-specific presynaptic protein; Protein FAM79A", "protein_names_refseq": "RP11-46F15.3; family with sequence similarity 79, member A; mossy fiber terminal-associated vertebrate-specific presynaptic protein; tumor protein p63-regulated gene 1-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:127262)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "17869247;18669648;24029068;24366607;24715725;25502872;26154972;26992070;27846572;27920218;28467828;28832583;28834231;28904123;29242379;29493099;29557506;30429286;31530632;31844290;32157095;32350084;32897882;32938616;33592498;33912179;33968037;33981976;34087483;34171305;34357683;35051231;35154160;35251023;35580925;36284347", "class_list": "", "function": "Mover may act in concert with generally expressed scaffolding proteins in distinct sets of presynaptic terminals, [RefSeq, PubMed]; Presynaptic protein involved in the synaptic transmission tuning. Regulates synaptic release probability by decreasing the calcium sensitivity of release., [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": "A8K1K4;Q8WV04", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0044305 calyx of Held;GO:0005737 cytoplasm;GO:0070062 extracellular exosome;GO:0048786 presynaptic active zone;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0051966 regulation of synaptic transmission, glutamatergic", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q5T0D9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD45-1", "uniprot_id": [ { "id": "TM9S3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD45", "type": "external" } ], "mass": 67888.0, "length": 589, "protein_name": "Transmembrane 9 superfamily member 3", "gene_name": "TM9SF3", "organism": "Human", "refseq_name": "transmembrane 9 superfamily member 3 precursor", "refseq_ac": [ { "id": "NP_064508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064508", "type": "external" } ], "gene_names_uniprotkb": "TM9SF3; PRO282; SMBP", "gene_names_refseq": "EP70-P-iso; SMBP; TM9SF3", "protein_names_uniprotkb": "Transmembrane 9 superfamily member 3; EP70-P-iso; SM-11044-binding protein", "protein_names_refseq": "SM-11044-binding protein; dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 3; endomembrane protein emp70 precursor isolog; transmembrane 9 superfamily member 3 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56889)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;16385451;19159218;19349973;23090970;24190977;24642718;24714562;25576301;27090790;28218747;28390114;28467828;28510447;28832583;28904123;29242379;29314611;29437277;29557506;29741879;29789417;31217245;31611695;31844290;32157095;32350084;32357974;32387766;32938616;33043033;33298915;33392160;33537174;33592498;33912179;33968037;34019948;34185709;34357683;34725712;35051231;35154160;35580925;37074911;37938771;38665916", "class_list": "", "function": "Authors confirmed that TM9SF3 was a target gene of miR-1193 by luciferase reporter gene assay. Gene overexpression and knockdown experiments in Jurkat cells revealed that TM9SF3 positively regulated cell proliferation and invasion., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; TM9SF3 participates in tumor invasion and serves as a prognostic factor., [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": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 85, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5TB57;Q6UWE7;Q9NWL8;Q9P0G9;Q9UHW8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0072657 protein localization to membrane", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q9HD45-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5U3C3-1", "uniprot_id": [ { "id": "TM164_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5U3C3", "type": "external" } ], "mass": 33508.0, "length": 297, "protein_name": "Transmembrane protein 164", "gene_name": "TMEM164", "organism": "Human", "refseq_name": "transmembrane protein 164 isoform a", "refseq_ac": [ { "id": "NP_060168", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060168", "type": "external" } ], "gene_names_uniprotkb": "TMEM164", "gene_names_refseq": "TMEM164; bB360B22.3", "protein_names_uniprotkb": "Transmembrane protein 164; Arachidonoyl ether phospholipid synthase", "protein_names_refseq": "RP13-360B22.2; arachidonoyl ether phospholipid synthase; transmembrane protein 164 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:84187)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "16959974;18077418;18691976;23481700;24366607;24715725;25576301;25880248;26154972;26375851;27846572;27862975;28228285;28514659;28832583;28834231;28904123;29242379;29508533;29557506;30315122;30737907;31844290;32357974;32387766;32488085;32502341;33123756;33141586;33392160;34185709;35947500;36284347;36782012;39392409", "class_list": "", "function": "Positive regulator of ferroptosis (PubMed:35947500, PubMed:36782012). Involved in the acylation of ether lysophospholipids with the arachidonoyl chain (5Z,8Z,11Z,14Z-eicosatetraenoyl; C20:4) of diacylglycerophospholipids, generating C20:4 ether glycerophospholipids (ePEs) such as 1-(1Z-octadecenyl)-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine (PE (P-18:0/20:4)), which promotes ferroptosis (PubMed:36782012). Selectively mediates ATG5-dependent autophagosome formation during ferroptosis, rather than during starvation, and regulates the degradation of ferritin, GPX4 and lipid droplets to increase iron accumulation and lipid peroxidation, thereby promoting ferroptotic cell death (PubMed:35947500)., [UniProtKB, PubMed, PubMed]; TMEM164 promotes ferroptosis by selectively mediating ATG5-dependent autophagosome formation to inhibit the progression of LUAD., [RefSeq, PubMed]; Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes are associated with Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis., [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": 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": "B3KSQ8;F5H2P2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0160020 positive regulation of ferroptosis", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q5U3C3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXP3-1", "uniprot_id": [ { "id": "TM14E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXP3", "type": "external" } ], "mass": 13608.0, "length": 125, "protein_name": "Transmembrane protein 14EP", "gene_name": "TMEM14EP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TMEM14EP; PRO34067; TMEM14E", "gene_names_refseq": "", "protein_names_uniprotkb": "Transmembrane protein 14EP", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "12975309;28411811;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": 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:0031966 mitochondrial membrane", "go_biological_process": "GO:0006783 heme biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6UXP3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRR5-1", "uniprot_id": [ { "id": "TLCD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRR5", "type": "external" } ], "mass": 27859.0, "length": 245, "protein_name": "TLC domain-containing protein 5", "gene_name": "TLCD5", "organism": "Human", "refseq_name": "TLC domain-containing protein 5 isoform a", "refseq_ac": [ { "id": "NP_001185599", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185599", "type": "external" } ], "gene_names_uniprotkb": "TLCD5; TMEM136", "gene_names_refseq": "TLCD5; TMEM136", "protein_names_uniprotkb": "TLC domain-containing protein 5; Transmembrane protein 136", "protein_names_refseq": "TLC domain-containing protein 5 isoform a; TLC domain-containing protein 5; transmembrane protein 136", "tax_id": 9606, "disease": "", "pathway": " (hsa:219902)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "27920218;29557506", "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": "B4DGQ4;B4E230;Q8IZ79", "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": "Q6ZRR5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V40-1", "uniprot_id": [ { "id": "TIKI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V40", "type": "external" } ], "mass": 57676.0, "length": 505, "protein_name": "Metalloprotease TIKI1", "gene_name": "TRABD2A", "organism": "Human", "refseq_name": "metalloprotease TIKI1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001074293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074293", "type": "external" } ], "gene_names_uniprotkb": "TRABD2A; C2orf89; TIKI1", "gene_names_refseq": "C2orf89; TIKI1; TRABD2A", "protein_names_uniprotkb": "Metalloprotease TIKI1; 3.4.-.-; TRAB domain-containing protein 2A", "protein_names_refseq": "TRAB domain-containing protein 2A; UPF0632 protein C2orf89; metalloprotease TIKI1 isoform 2 precursor; metalloprotease TIKI1", "tax_id": 9606, "disease": "", "pathway": " (hsa:129293)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10.1101/2023.09.13.557529;11237011;22726442;28832583;29242379;29393594;29557506;31282173;31801864;31844290;32357974;32983136;33298915;33968037;34357683;35182431;36010968;39534244", "class_list": "", "function": "Inhibition of Metalloprotease TRABD2A Facilitates the Study of HIV-1 Replication in Resting CD4(+) T Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Metalloprotease TRABD2A Restriction of HIV-1 Production in Monocyte-Derived Dendritic Cells., [RefSeq, PubMed]; Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oligomers, leading to their inactivation., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Tiki1 antagonizes Wnt function in embryos and human cells via a TIKI homology domain that is conserved from bacteria to mammals and acts likely as a protease to cleave eight amino-terminal residues of a Wnt protein, resulting in oxidized Wnt oligomers that exhibit normal secretion but minimized receptor-binding capability., [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": 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": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DKK8;I6UMB9", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0017147 Wnt-protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031090 organelle membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0031334 positive regulation of protein-containing complex assembly;GO:0016055 Wnt signaling pathway;GO:0030178 negative regulation of Wnt signaling pathway;GO:0060322 head development", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q86V40-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86W42-1", "uniprot_id": [ { "id": "THOC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86W42", "type": "external" } ], "mass": 37535.0, "length": 341, "protein_name": "THO complex subunit 6", "gene_name": "THOC6", "organism": "Human", "refseq_name": "THO complex subunit 6 isoform 2", "refseq_ac": [ { "id": "NP_001135822", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135822", "type": "external" } ], "gene_names_uniprotkb": "THOC6; PSEC0006; WDR58", "gene_names_refseq": "MMRFCGU; THOC6; WDR58; fSAP35", "protein_names_uniprotkb": "THO complex subunit 6; Functional spliceosome-associated protein 35; WD repeat-containing protein 58; fSAP35", "protein_names_refseq": "THO complex 6; THO complex subunit 6 homolog; THO complex subunit 6 isoform 2; WD repeat domain 58; WD repeat-containing protein 58; functional spliceosome-associated protein 35", "tax_id": 9606, "disease": "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome (MONDO:MONDO:0013362)", "pathway": " (hsa:79228); (R-HSA-159236); (R-HSA-72187)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "10228171;10323864;10489353;10668806;11073998;11256625;11259411;11259602;11579093;11739738;11756420;11979277;12093754;12871933;15833825;15998806;16314397;17000901;17190602;17984224;18364396;18411249;18423201;18957205;18974867;19836239;20068231;20129943;20573985;20844015;21947206;22207203;22893130;22928037;23186163;23222130;23299939;23621916;23826332;24244187;24366607;24714562;24715725;25662211;25836925;26728094;26739162;26992070;27102954;27862975;28218747;28228285;28832583;28834231;28904123;29242379;29437277;29508533;29557506;29786170;30315122;30429286;30833945;31530632;31844290;32157095;32488085;32502341;32938616;32983136;33191911;33465208;33592498;33717175;33912179;33936100;33968037;34019948;34171305;34561969;35051231;35426486;35580925;36010968;36241641;36284347;37020021;37217939;40596516;9618489;9660949", "class_list": "", "function": "(Microbial infection) The TREX complex is essential for the export of Kaposi's sarcoma-associated herpesvirus (KSHV) intronless mRNAs and infectious virus production., [UniProtKB, PubMed]; Biallelic THOC6 pathogenic variants: Prenatal phenotype and review of the literature. Review article, [RefSeq, PubMed]; Component of the THO subcomplex of the TREX complex which is thought to couple mRNA transcription, processing and nuclear export, and which specifically associates with spliced mRNA and not with unspliced pre-mRNA (PubMed:15833825, PubMed:15998806, PubMed:17190602). Plays a key structural role in the oligomerization of the THO-DDX39B complex (PubMed:33191911). TREX is recruited to spliced mRNAs by a transcription-independent mechanism, binds to mRNA upstream of the exon-junction complex (EJC) and is recruited in a splicing- and cap-dependent manner to a region near the 5' end of the mRNA where it functions in mRNA export to the cytoplasm via the TAP/NXF1 pathway (PubMed:15998806, PubMed:17190602). Plays a role in apoptosis negative control involved in brain development (PubMed:15833825, PubMed:23621916)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; In addition to confirming the morbid nature of THOC6 by providing an independent homozygous apparently loss of function allele in a patient with a compatible phenotype, our data also expand THOC6-related phenotype to include previously unreported imperforate anus and undescended testicles., [RefSeq, PubMed]; Results indicate three unrelated patients with bi-allelic mutations in THOC6 associated with intellectual disability and additional clinical features., [RefSeq, PubMed]; This gene encodes a subunit of the multi-protein THO complex, which is involved in coordination between transcription and mRNA processing. The THO complex is a component of the TREX (transcription/export) complex, which is involved in transcription and export of mRNAs. A missense mutation in this gene is associated with a neurodevelopmental disorder called Beaulieu-Boycott-Innes syndrome. [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": 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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RA85;Q8NBR1;Q9BTV9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0000347 THO complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000445 THO complex part of transcription export complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus;GO:0006915 apoptotic process;GO:0007417 central nervous system development;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q86W42-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYQ7-1", "uniprot_id": [ { "id": "THNS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYQ7", "type": "external" } ], "mass": 83070.0, "length": 743, "protein_name": "Threonine synthase-like 1", "gene_name": "THNSL1", "organism": "Human", "refseq_name": "threonine synthase-like 1", "refseq_ac": [ { "id": "NP_079114", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079114", "type": "external" } ], "gene_names_uniprotkb": "THNSL1", "gene_names_refseq": "THNSL1; TSH1", "protein_names_uniprotkb": "Threonine synthase-like 1; TSH1", "protein_names_refseq": "threonine synthase-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79896)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "16385451;19608861;19615748;20068231;25880248;28904123;29557506;30573663;31154438;31217245;31844290;32350084;32357974;32488085;32938616;33298915;34357683;35051231", "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": 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": "B3KWL1;D3DRV3;Q5VV21", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8IYQ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEW7-1", "uniprot_id": [ { "id": "TMIE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEW7", "type": "external" } ], "mass": 17241.0, "length": 156, "protein_name": "Transmembrane inner ear expressed protein", "gene_name": "TMIE", "organism": "Human", "refseq_name": "transmembrane inner ear expressed protein isoform 1 precursor", "refseq_ac": [ { "id": "NP_671729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_671729", "type": "external" } ], "gene_names_uniprotkb": "TMIE", "gene_names_refseq": "DFNB6; TMIE", "protein_names_uniprotkb": "Transmembrane inner ear expressed protein", "protein_names_refseq": "transmembrane inner ear expressed protein isoform 1 precursor; transmembrane inner ear expressed protein; transmembrane inner ear protein", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 6 (Disease Ontology:DOID:0110512); sensorineural hearing loss (Disease Ontology:DOID:10003)", "pathway": " (hsa:259236); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 12, "publication_id_list": "10025409;10821263;11163272;11237011;12140191;12145746;19438934;20206386;24416283;24715725;29485866;35710363", "class_list": "", "function": "Analysis of TMIE gene mutations including the first large deletion of exon 1 with autosomal recessive non-syndromic deafness. Publication Status: Online-Only, [RefSeq, PubMed]; Auxiliary subunit of the mechanotransducer (MET) non-specific cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system. The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15. May contribute to the formation of the pore., [UniProtKB, UniProtKB]; Description of the spectrum of mutations in TMIE in 374 families with autosomal recessive, non-syndromic hearing loss from India. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic mapping data support human TMIE as the gene affected at DFNB6, a non-syndromic hearing loss locus, [RefSeq, PubMed]; P.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL), [RefSeq, PubMed]; This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]., [RefSeq]; We suggest that a missense variant and one promoter variant is de novo and may be a risk factor for the development of hearing loss in Taiwanese 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0AV93;A8K0R0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0042472 inner ear morphogenesis;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8NEW7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96B77-1", "uniprot_id": [ { "id": "TM186_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96B77", "type": "external" } ], "mass": 24893.0, "length": 213, "protein_name": "Transmembrane protein 186", "gene_name": "TMEM186", "organism": "Human", "refseq_name": "transmembrane protein 186", "refseq_ac": [ { "id": "NP_056236", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056236", "type": "external" } ], "gene_names_uniprotkb": "TMEM186; C16orf51", "gene_names_refseq": "C16orf51; TMEM186", "protein_names_uniprotkb": "Transmembrane protein 186", "protein_names_refseq": "transmembrane protein 186", "tax_id": 9606, "disease": "", "pathway": " (hsa:25880); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 62, "publication_id_list": "10327278;11220739;11230166;11695836;12231006;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;19752196;20406883;20552642;20858599;20877624;21924235;23150584;23270816;23553477;23564345;23747254;239860;24191001;25505266;25564869;25678554;25880248;25892735;26992070;27499296;27626371;27920218;28228285;28855257;29393594;29769354;30410026;31666358;31844290;31848261;31866046;32157095;32265295;32275929;32320651;32387766;33298915;33592498;33879611;33882309;34509645;34932366;35051231;35333655;35614220;38199007;4288886;9571201;9878551", "class_list": "", "function": "As part of the MCIA complex, required for efficient assembly of the mitochondrial complex I., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a potential transmembrane protein. [provided by RefSeq, Dec 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": 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": "B2RAY0;Q9Y4T4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0160295 mitochondrial complex I intermediate assembly complex", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q96B77-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW30-1", "uniprot_id": [ { "id": "TPPP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW30", "type": "external" } ], "mass": 18985.0, "length": 176, "protein_name": "Tubulin polymerization-promoting protein family member 3", "gene_name": "TPPP3", "organism": "Human", "refseq_name": "tubulin polymerization-promoting protein family member 3", "refseq_ac": [ { "id": "NP_057048", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057048", "type": "external" } ], "gene_names_uniprotkb": "TPPP3; CGI-38", "gene_names_refseq": "CGI-38; TPPP/p20; TPPP3; p20; p25gamma", "protein_names_uniprotkb": "Tubulin polymerization-promoting protein family member 3; TPPP/p20", "protein_names_refseq": "brain specific protein; tubulin polymerization-promoting protein family member 3", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:51673)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10931946;17105200;19165527;19633818;25576301;26154972;26992070;27726376;28657654;28832583;29557506;29786170;30429286;30667362;31154438;31848261;32157095;32983136;33083464;33592498;33644928;34185709;35051231;35580925;36058091;36230985;36284347;37863960;37938771", "class_list": "", "function": "Modulatory Role of TPPP3 in Microtubule Organization and Its Impact on Alpha-Synuclein Pathology. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of microtubule dynamic that has microtubule bundling activity (PubMed:17105200, PubMed:19633818). Required for embryo implantation; possibly by regulating beta-catenin (By similarity). Also required for decidualization via regulation of beta-catenin (PubMed:30667362)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; TPPP3 Associated with Prognosis and Immune Infiltrates in Head and Neck Squamous Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; TPPP3 inhibits the proliferation, invasion and migration of endometrial carcinoma targeted with miR-1827., [RefSeq, PubMed]; TPPP3 promote epithelial-mesenchymal transition via Snail1 in glioblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; The expression and role of tubulin polymerization-promoting protein 3 in oral squamous cell carcinoma., [RefSeq, PubMed]; Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia., [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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q49AH9;Q9Y326;Q9Y6H0", "ec_number_list": [], "go_molecular_function": "GO:0015631 tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005874 microtubule", "go_biological_process": "GO:0046785 microtubule polymerization;GO:0007566 embryo implantation;GO:0046697 decidualization;GO:0001578 microtubule bundle formation;GO:0032273 positive regulation of protein polymerization", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q9BW30-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZW4-1", "uniprot_id": [ { "id": "TM6S2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZW4", "type": "external" } ], "mass": 42554.0, "length": 377, "protein_name": "Transmembrane 6 superfamily member 2", "gene_name": "TM6SF2", "organism": "Human", "refseq_name": "transmembrane 6 superfamily member 2", "refseq_ac": [ { "id": "NP_001001524", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001524", "type": "external" } ], "gene_names_uniprotkb": "TM6SF2", "gene_names_refseq": "TM6SF2", "protein_names_uniprotkb": "Transmembrane 6 superfamily member 2", "protein_names_refseq": "transmembrane 6 superfamily member 2", "tax_id": 9606, "disease": "steatotic liver disease (Disease Ontology:DOID:9452)", "pathway": " (hsa:53345)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11124529;24531328;24633158;24927523;24978903;25457209;25566323;27543614;33141586;35051231;37495452;37589914;38465912;38776916;39215018", "class_list": "", "function": "A study of genetic variants, genetic risk score and DNA methylation of PNPLA3 and TM6SF2 in alcohol liver cirrhosis., [RefSeq, PubMed]; Basic and translational evidence supporting the role of TM6SF2 in VLDL metabolism. Review article, [RefSeq, PubMed]; Effects of TM6SF2 rs58542926 polymorphism on hepatocellular lipids and insulin resistance in early type 2 diabetes., [RefSeq, PubMed]; G-quadruplex forming regions in GCK and TM6SF2 are targets for differential DNA methylation in metabolic disease and hepatocellular carcinoma patients. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of liver fat metabolism influencing triglyceride secretion and hepatic lipid droplet content (PubMed:24531328, PubMed:24927523). May function as sterol isomerase (PubMed:25566323)., [UniProtKB, PubMed, PubMed, PubMed]; TM6SF2 activity is required for normal very-low-density lipoprotein secretion; impaired TM6SF2 function causally contributes to Nonalcoholic fatty liver disease., [RefSeq, PubMed]; TM6SF2 variant (Glu167Lys) influences total cholesterol levels and is associated with myocardial infarction., [RefSeq, PubMed]; The common p.Ile291Val variant of ERLIN1 enhances TM6SF2 function and is associated with protection against MASLD., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0IJ64", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0033116 endoplasmic reticulum-Golgi intermediate compartment membrane", "go_biological_process": "GO:0006629 lipid metabolic process;GO:0055088 lipid homeostasis;GO:0019216 regulation of lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9BZW4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZR1-1", "uniprot_id": [ { "id": "TMOD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZR1", "type": "external" } ], "mass": 39595.0, "length": 351, "protein_name": "Tropomodulin-2", "gene_name": "TMOD2", "organism": "Human", "refseq_name": "tropomodulin-2 isoform b", "refseq_ac": [ { "id": "NP_001136357", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136357", "type": "external" } ], "gene_names_uniprotkb": "TMOD2; NTMOD", "gene_names_refseq": "N-TMOD; NTMOD; TMOD2", "protein_names_uniprotkb": "Tropomodulin-2; N-Tmod; Neuronal tropomodulin", "protein_names_refseq": "neuronal tropomodulin; tropomodulin 2 (neuronal); tropomodulin-2 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:29767); (R-HSA-390522)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "10662549;10747208;11237011;15095301;25645385;28904123;29351928;31154438;31844290;31848261;32157095;32502341;35051231;35580925;36284347;36963620;37938771", "class_list": "", "function": "Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity)., [UniProtKB]; Hexavalent chromium causes centrosome amplification by inhibiting the binding between TMOD2 and NPM2., [RefSeq, PubMed]; Levels of TM1, TM2 and TM3 are reduced in human transitional cell carcinoma cells, but significantly upregulated by inhibition of the mitogen-activated protein kinase-signaling pathway, [RefSeq, PubMed]; This gene encodes a neuronal-specific member of the tropomodulin family of actin-regulatory proteins. The encoded protein caps the pointed end of actin filaments preventing both elongation and depolymerization. The capping activity of this protein is dependent on its association with tropomyosin. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 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": 1, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DEW6", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005523 tropomyosin binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005865 striated muscle thin filament;GO:0030016 myofibril", "go_biological_process": "GO:0006936 muscle contraction;GO:0007015 actin filament organization;GO:0007399 nervous system development;GO:0051694 pointed-end actin filament capping;GO:0030239 myofibril assembly", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9NZR1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UNG2-1", "uniprot_id": [ { "id": "TNF18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UNG2", "type": "external" } ], "mass": 20308.0, "length": 177, "protein_name": "Tumor necrosis factor ligand superfamily member 18", "gene_name": "TNFSF18", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 18", "refseq_ac": [ { "id": "NP_005083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005083", "type": "external" } ], "gene_names_uniprotkb": "TNFSF18; AITRL; GITRL; PRO175; TL6", "gene_names_refseq": "AITRL; GITRL; TL6; TNFSF18; TNLG2A; hGITRL", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 18; AITRL; Activation-inducible TNF-related ligand; Glucocorticoid-induced TNF-related ligand; hGITRL", "protein_names_refseq": "AITR ligand; GITR ligand; activation-inducible TNF-related ligand; glucocorticoid-induced TNF-related ligand; glucocorticoid-induced TNFR-related protein ligand; tumor necrosis factor (ligand) superfamily, member 18; tumor necrosis factor ligand 2A; tumor necrosis factor ligand superfamily member 18; tumor necrosis factor superfamily member 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:8995); (R-HSA-5669034)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10037686;10074428;10359578;10398604;10484778;10597252;10615125;11571266;11882293;11911831;12189164;12949498;12975309;14656435;15326137;15356117;15470070;16501042;1655907;17449724;17632511;18040044;18571443;18606301;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;23892569;24070496;33188059;33654081;38589318;7913952;8120384;8871664;9878548", "class_list": "", "function": "A GITRL-mTORC1-GM-CSF Positive Loop Promotes Pathogenic Th17 Response in Primary Sjogren Syndrome., [RefSeq, PubMed]; Cytokine that binds to TNFRSF18/AITR/GITR. Regulates T-cell responses. Can function as costimulator and lower the threshold for T-cell activation and T-cell proliferation. Important for interactions between activated T-lymphocytes and endothelial cells. Mediates activation of NF-kappa-B. Triggers increased phosphorylation of STAT1 and up-regulates expression of VCAM1 and ICAM1 (PubMed:23892569). Promotes leukocyte adhesion to endothelial cells (PubMed:23892569). Regulates migration of monocytes from the splenic reservoir to sites of inflammation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Structures of mouse and human GITR-GITRL complexes reveal unique TNF superfamily interactions. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptor TNFRSF18/AITR/GITR. It has been shown to modulate T lymphocyte survival in peripheral tissues. This cytokine is also found to be expressed in endothelial cells, and is thought to be important for interaction between T lymphocytes and endothelial cells. [provided by RefSeq, Jul 2008]., [RefSeq]; Type I interferons drive the maturation of human DC3s with a distinct costimulatory profile characterized by high GITRL., [RefSeq, PubMed]; Upregulation by proinflammatory cytokines suggests GITRL may play important role in ocular immunity. High level of constitutive GITRL expression on photoreceptor inner segments suggests photoreceptors participate in regulation of ocular inflammation., [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": 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": 12, "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": "A9IQG8;O95852;Q6ISV1", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0032813 tumor necrosis factor receptor superfamily binding;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007165 signal transduction;GO:0007267 cell-cell signaling;GO:0043066 negative regulation of apoptotic process;GO:0045785 positive regulation of cell adhesion;GO:0090026 positive regulation of monocyte chemotaxis", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9UNG2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y275-1", "uniprot_id": [ { "id": "TN13B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y275", "type": "external" } ], "mass": 31223.0, "length": 285, "protein_name": "Tumor necrosis factor ligand superfamily member 13B", "gene_name": "TNFSF13B", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 13B isoform 2", "refseq_ac": [ { "id": "NP_001139117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139117", "type": "external" } ], "gene_names_uniprotkb": "TNFSF13B; BAFF; BLYS; PRO738; TALL1; TNFSF20; ZTNF4", "gene_names_refseq": "BAFF; BLYS; CD257; TALL-1; TALL1; THANK; TNFSF13B; TNFSF20; TNLG7A; ZTNF4", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 13B; B lymphocyte stimulator; B-cell-activating factor; BAFF; BLyS; Dendritic cell-derived TNF-like molecule; TALL-1; TNF- and APOL-related leukocyte expressed ligand 1", "protein_names_refseq": "ApoL related ligand TALL-1; B-cell-activating factor; B-lymphocyte stimulator; Delta4 BAFF; TNF and ApoL-related leukocyte expressed ligand 1; TNF homolog that activates apoptosis; delta BAFF; dendritic cell-derived TNF-like molecule; epididymis secretory sperm binding protein; tumor necrosis factor (ligand) superfamily, member 13b; tumor necrosis factor (ligand) superfamily, member 20; tumor necrosis factor ligand 7A; tumor necrosis factor ligand superfamily member 13B isoform 2; tumor necrosis factor superfamily member 13b; tumor necrosis factor-like protein ZTNF4", "tax_id": 9606, "disease": "Sjogren's syndrome (Disease Ontology:DOID:12894); IgA glomerulonephritis (Disease Ontology:DOID:2986)", "pathway": " (hsa:10673); (R-HSA-5668541); (R-HSA-5669034); (R-HSA-5676594)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "10074428;10085077;10331498;10359578;10398604;10484778;10597252;10615125;10797013;10973284;11571266;11728344;11827482;11853672;11862220;11882293;11911831;12189164;12374738;12529173;12571250;12721620;12787562;12867412;12949498;12975309;14656435;15084608;15356117;15368291;15470070;15585864;15644327;15824857;16501042;1655907;17632511;17636564;18571443;18606301;18635759;18997792;18997794;19241374;19426221;19815541;20032458;20222921;20307208;20385556;20483727;20510730;20979233;21081755;21091114;21300286;22197273;22664871;22749832;22801960;23481700;23667509;24070496;24248355;24298274;24432023;25152365;25892735;26154972;27543614;27846572;27920218;28832583;29242379;29557506;32350084;32502341;32983136;33141586;33968037;35051231;35251023;36284347;37074911;37217939;38329469;38469292;38557386;38600356;39222149;7544915;7639698;7913952;8120384;8521496;8663299;8702708;8871664;9122217;9247583;9367155;9718306;9852070;9878548", "class_list": "", "function": "Acts as a transcription factor for its own parent gene, in association with NF-kappa-B p50 subunit, at least in autoimmune and proliferative B-cell diseases. The presence of Delta4BAFF is essential for soluble BAFF release by IFNG/IFN-gamma-stimulated monocytes and for B-cell survival. It can directly or indirectly regulate the differential expression of a large number of genes involved in the innate immune response and the regulation of apoptosis., [UniProtKB, PubMed]; An IL-1beta-driven neutrophil-stromal cell axis fosters a BAFF-rich protumor microenvironment in individuals with multiple myeloma., [RefSeq, PubMed]; An unappreciated cell survival-independent role for BAFF initiating chronic lymphocytic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Correlation Between B-Cell Activating Factor of the Tumor Necrosis Factor Family Level in Serum and Immune Inflammation in Patients with Neuropsychiatric Systemic Lupus Erythematosus and its Clinical Value., [RefSeq, PubMed]; Current status of BAFF targeting immunotherapy in B-cell neoplasm. Review article, [RefSeq, PubMed]; Cytokine that binds to TNFRSF13B/TACI and TNFRSF17/BCMA. TNFSF13/APRIL binds to the same 2 receptors. Together, they form a 2 ligands -2 receptors pathway involved in the stimulation of B- and T-cell function and the regulation of humoral immunity. A third B-cell specific BAFF-receptor (BAFFR/BR3) promotes the survival of mature B-cells and the B-cell response., [UniProtKB, PubMed]; Isoform 2 seems to inhibit isoform 1 secretion and bioactivity., [UniProtKB]; The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]., [RefSeq]; [Research advances on B-cell activating factor and its targeted agents in inflammatory bowel disease]. Review article, [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": 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": 3, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "E0ADT7;Q6FHD6;Q7Z5J2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0005125 cytokine activity;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0002260 lymphocyte homeostasis;GO:0006955 immune response;GO:0007165 signal transduction;GO:0030890 positive regulation of B cell proliferation;GO:0030183 B cell differentiation", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q9Y275-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y320-1", "uniprot_id": [ { "id": "TMX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y320", "type": "external" } ], "mass": 34038.0, "length": 296, "protein_name": "Thioredoxin-related transmembrane protein 2", "gene_name": "TMX2", "organism": "Human", "refseq_name": "thioredoxin-related transmembrane protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001137484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137484", "type": "external" } ], "gene_names_uniprotkb": "TMX2; CGI-31; My009; PIG26; PRO270; PSEC0045; TXNDC14", "gene_names_refseq": "CGI-31; NEDMCMS; PDIA12; PIG26; TMX2; TXNDC14", "protein_names_uniprotkb": "Thioredoxin-related transmembrane protein 2; Cell proliferation-inducing gene 26 protein; Thioredoxin domain-containing protein 14", "protein_names_refseq": "cell proliferation-inducing gene 26 protein; growth-inhibiting gene 11; protein disulfide isomerase family A, member 12; thioredoxin domain-containing protein 14; thioredoxin-related transmembrane protein 2 isoform 2", "tax_id": 9606, "disease": "neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (MONDO:MONDO:0032887)", "pathway": " (hsa:51075)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12670024;12975309;16303743;18669648;19413330;19690332;20112406;22045338;22424782;22869377;23186163;23481700;24275569;24714562;24715725;25418920;25576301;25645385;25802875;25880248;25892735;26154972;26375851;26728094;26992070;27397612;27600516;27846572;27862975;28510447;28904123;29371260;29493099;29557506;29930882;30315122;30429286;31020640;31217245;31586943;31653923;31735293;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33091337;33123756;33141586;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34725712;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36241641;36284347;36581221;37938771;38147024", "class_list": "", "function": "Endoplasmic reticulum and mitochondria-associated protein that probably functions as a regulator of cellular redox state and thereby regulates protein post-translational modification, protein folding and mitochondrial activity. Indirectly regulates neuronal proliferation, migration, and organization in the developing brain., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Molecular cloning and characterization of one member of the thioredoxin superfamily, designated as TMX2; the TMX2 cDNA consists of 1644 nucleotides and contains an open reading frame encoding a protein of 372 amino acids, [RefSeq, PubMed]; Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly., [RefSeq, PubMed]; TMX family genes and their association with prognosis, immune infiltration, and chemotherapy in human pan-cancer. Erratum:[Aging (Albany NY). 2024 Jun 30;16(12):10666-10667. doi: 10.18632/aging.205990. PMID: 38967984], [RefSeq, PubMed]; TMX2 Dysfunction Causes Severe Brain Developmental Abnormalities., [RefSeq, PubMed]; TMX2 is enriched on the mitochondria-associated membrane. Targeting TMX to the MAM requires palmitoylation of two membrane-proximal cytosolic cysteines., [RefSeq, PubMed]; Thioredoxin-related transmembrane protein 2 (TMX2) regulates the Ran protein gradient and importin-beta-dependent nuclear cargo transport. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [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": 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": 1, "reported_glycation": 0, "reported_snv": 8, "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": "B7Z4R4;Q53G73;Q561W0;Q5J7Q7;Q8NBP9;Q9H3L1", "ec_number_list": [], "go_molecular_function": "GO:0015036 disulfide oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0031966 mitochondrial membrane;GO:0005789 endoplasmic reticulum membrane;GO:0044233 mitochondria-associated endoplasmic reticulum membrane contact site", "go_biological_process": "GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9Y320-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D1N5-1", "uniprot_id": [ { "id": "YG018_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D1N5", "type": "external" } ], "mass": 16741.0, "length": 150, "protein_name": "Putative uncharacterized protein FLJ40288", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ40288", "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": "Q8N7V8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A4D1N5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D1P6-1", "uniprot_id": [ { "id": "WDR91_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D1P6", "type": "external" } ], "mass": 83344.0, "length": 747, "protein_name": "WD repeat-containing protein 91", "gene_name": "WDR91", "organism": "Human", "refseq_name": "WD repeat-containing protein 91 isoform 3", "refseq_ac": [ { "id": "NP_054868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054868", "type": "external" } ], "gene_names_uniprotkb": "WDR91; HSPC049", "gene_names_refseq": "HSPC049; SORF-1; SORF1; WDR91", "protein_names_uniprotkb": "WD repeat-containing protein 91", "protein_names_refseq": "WD repeat-containing protein 91 isoform 3; WD repeat-containing protein 91", "tax_id": 9606, "disease": "", "pathway": " (hsa:29062); (R-HSA-9013148)", "pathway_count": 2, "publication_count": 253, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10699171;10699464;10724160;10873802;11007481;11058585;11085924;11149925;11230166;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;15850391;15897194;16112081;16116428;16184169;16217026;16519628;16630611;16714282;16777452;16777849;16862148;16896804;16964243;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17599059;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18218625;18363964;18426980;18653540;18786931;18835169;18838382;18929667;19605563;19651622;19934221;20679435;21148482;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22970203;23186163;23200924;23255595;23406282;23434736;23481700;23572525;23718289;24086303;24259668;24335996;24352656;24584464;24714562;24715725;24933155;24996924;25024229;25211221;25576301;25645385;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26375851;26529257;26598554;26728094;26758079;26783301;26887924;26992070;27096001;27126989;27145964;27216196;27481945;27555588;27600516;27798618;27920218;28028151;28196833;28218747;28404643;28825699;28832583;28834231;28860274;28860633;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30061681;30315122;30410026;30429286;30853411;31217245;31844290;31871319;32157095;32203420;32350084;32387766;32502341;32897882;32983136;33141586;33392160;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34171305;34357683;34561969;34932366;35051231;35154160;35318648;35580925;36010968;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": "Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May play a role in meiosis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Suggest a role for the WDR81-WDR91 complex in the fusion of endolysosomal compartments and the absence of WDR81 leads to impaired receptor trafficking and degradation, [RefSeq, PubMed]; WDR91 serves as a Rab7 effector that is essential for neuronal development by facilitating endosome conversion in the endosome-lysosome 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": 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": "A6NK54;C9JMI4;Q6FI65;Q6MZQ1;Q6P4I1;Q96AE5;Q96G63;Q9H062;Q9H9B6;Q9NVG7;Q9NZY6", "ec_number_list": [], "go_molecular_function": "GO:0035014 phosphatidylinositol 3-kinase regulator activity;GO:0141039 phosphatidylinositol 3-kinase inhibitor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0031902 late endosome membrane;GO:0031901 early endosome membrane;GO:0010008 endosome membrane;GO:0005769 early endosome", "go_biological_process": "GO:0045022 early endosome to late endosome transport;GO:0051898 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0042176 regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 25.4, "record_id": "A4D1P6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NCN8-1", "uniprot_id": [ { "id": "TEX52_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NCN8", "type": "external" } ], "mass": 35334.0, "length": 305, "protein_name": "Testis-expressed protein 52", "gene_name": "TEX52", "organism": "Human", "refseq_name": "testis-expressed protein 52 isoform 1", "refseq_ac": [ { "id": "NP_001352103", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352103", "type": "external" } ], "gene_names_uniprotkb": "TEX52", "gene_names_refseq": "TEX52", "protein_names_uniprotkb": "Testis-expressed protein 52", "protein_names_refseq": "testis-expressed protein 52 isoform 1; testis-expressed protein 52", "tax_id": 9606, "disease": "", "pathway": " (hsa:101929469)", "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": "A6NCN8-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHS1-1", "uniprot_id": [ { "id": "YK042_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHS1", "type": "external" } ], "mass": 10211.0, "length": 94, "protein_name": "Putative uncharacterized protein ENSP00000347057", 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beta-1,3-N-acetylglucosaminyltransferase LOC402377", "tax_id": 9606, "disease": "", "pathway": " (hsa:100288842)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;25576301;25645385;26992070;28834231;29493099;29632046;30315122;32157095;32161166;32265295;33537174;33592498;35051231;35494241", "class_list": "glycogene;glycosyltransferase", "function": "Putative glycosyltransferase that could catalyze the transfer of galactose residues from UDP-alpha-D-galactose., [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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 282, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0016757 glycosyltransferase activity;GO:0016758 hexosyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "A8MXE2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MXQ7-1", "uniprot_id": [ { "id": "IQAK1_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MXQ7", "type": "external" } ], "mass": 63562.0, "length": 560, "protein_name": "IQ motif and ankyrin repeat domain-containing protein 1", "gene_name": "IQANK1", "organism": "Human", "refseq_name": "IQ motif and ankyrin repeat domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001368803", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001368803", "type": "external" } ], "gene_names_uniprotkb": "IQANK1", "gene_names_refseq": "CACClnc; FAM83H-AS1; FAM83HAS1; IQANK1; onco-lncRNA-3", "protein_names_uniprotkb": "IQ motif and ankyrin repeat domain-containing protein 1", "protein_names_refseq": "Chemoresistance Associated CRC lncRNA; FAM83H antisense RNA 1 (head to head); IQ motif and ankyrin repeat domain-containing protein 1 isoform 1; IQ motif and ankyrin repeat domain-containing protein 1; IQ motif and ankyrin repeat domain-containing protein LOC642574; putative IQ motif and ankyrin repeat domain-containing protein LOC642574", "tax_id": 9606, "disease": "", "pathway": " (hsa:642574)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;25864709;28198463;30379171;31871129;33592498;33634993;35051231;37477820;38964733;39159808", "class_list": "", "function": "FAM83H-AS1 is a noncoding oncogenic driver and therapeutic target of lung adenocarcinoma., [RefSeq, PubMed]; FAM83H-AS1 role in the osteogenic differentiation of the bone mesenchymal stem cells.FAM83H-AS1 negatively regulated microRNA 541-3p and WNT3A. Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA FAM83H-AS1 inhibits ferroptosis of endometrial cancer by promoting DNMT1-mediated CDO1 promoter hypermethylation., [RefSeq, PubMed]; M6A-modified lncRNA FAM83H-AS1 promotes colorectal cancer progression through PTBP1., [RefSeq, PubMed]; Results showed that FAM83H-AS1 is overexpressed in lung neoplasm and indicated that FAM83H-AS1 may not only be a potential biomarker for diagnosis and prognosis of lung cancer, but also play a critical role in lung cancer progression including cell proliferation, invasion, migration and colony formation. Publication Status: Online-Only, [RefSeq, PubMed]; Study validated the role of 2 uncharacterized lncRNAs, onco-lncRNA-3 and onco-lncRNA-12, and a previously reported lncRNA, CCAT1, in S-phase cell cycle across cancer types., [RefSeq, PubMed]; WTAP-Involved the m6A Modification of lncRNA FAM83H-AS1 Accelerates the Development of Gastric 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": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A1B0GTG1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "A8MXQ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14586-1", "uniprot_id": [ { "id": "ZN267_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14586", "type": "external" } ], "mass": 87376.0, "length": 743, "protein_name": "Zinc finger protein 267", "gene_name": "ZNF267", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZNF267", "gene_names_refseq": "", "protein_names_uniprotkb": "Zinc finger protein 267; Zinc finger protein HZF2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:10308); (R-HSA-212436)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16497976;16606702;16719718;17081983;2163759;23481700;24397554;25576301;25772364;26154972;26375851;26811146;26992070;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;30315122;30429286;31217245;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33298915;33392160;33537174;33717175;33912179;33981976;34087483;34171305;34509645;34561969;34932366;35051231;35494241;35561310;35580925;36010968;36241641;36284347;36581221;37938771;7865130;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": 3, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0JNZ9;Q8NE41;Q9NRJ0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q14586-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14709-1", "uniprot_id": [ { "id": "ZN197_HUMAN", "url": "https://www.uniprot.org/uniprot/O14709", "type": "external" } ], "mass": 118847.0, "length": 1029, "protein_name": "Zinc finger protein 197", "gene_name": "ZNF197", "organism": "Human", "refseq_name": "zinc finger protein 197 isoform 2", "refseq_ac": [ { "id": "NP_001020026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001020026", "type": "external" } ], "gene_names_uniprotkb": "ZNF197; ZKSCAN9; ZNF166", "gene_names_refseq": "D3S1363E; P18; VHLaK; ZKSCAN9; ZNF166; ZNF197; ZSCAN41", "protein_names_uniprotkb": "Zinc finger protein 197; Zinc finger protein with KRAB and SCAN domains 9; ZnF20; pVHL-associated KRAB domain-containing protein", "protein_names_refseq": "VHL-associated KRAB-A domain-containing protein; pVHL-associated KRAB domain-containing protein; zinc finger protein 166; zinc finger protein 197 isoform 2; zinc finger protein with KRAB and SCAN domains 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:10168); (R-HSA-212436)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11237011;11395415;12682018;14519192;15175151;15896744;16606702;16719718;2163759;25505266;25576301;26853435;26992070;29493099;30379171;30429286;30484775;31492838;31844290;32157095;32897882;32938616;32983136;33592498;33912179;33968037;35051231;35580925;8183939;8769649;9380504;9637681;9653119", "class_list": "", "function": "A novel pVHL-interacting protein that functions as a negative regulator of hypoxia-inducible factor-1a (HIF-1alpha) transactivation; demonstrate that the KRAB-A domain in VHLaK mediates pVHL binding and functions as a transcriptional repression module, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; This gene product belongs to the zinc finger protein superfamily, members of which are regulatory proteins characterized by nucleic acid-binding zinc finger domains. The encoded protein contains 20 tandemly arrayed C2H2-type zinc fingers, a Kruppel-associated box (KRAB) domain, and a SCAN box. This transcript turns over rapidly and contains 3' UTR AUUUA motifs, which are often a hallmark of rapid turnover. It is overexpressed in some thyroid papillary carcinomas. This gene is located in a cluster of zinc finger genes at 3p21. Naturally-occurring readthrough transcription is observed between this gene and the upstream zinc finger protein 660 gene and is represented by GeneID:110354863. [provided by RefSeq, May 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 31, "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": "B2RAH8;Q86VG0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "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": 4.1, "record_id": "O14709-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C879-1", "uniprot_id": [ { "id": "YJ018_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C879", "type": "external" } ], "mass": 14498.0, "length": 139, "protein_name": "Putative uncharacterized protein FLJ43185", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ43185", "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": 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": 0.1, "record_id": "P0C879-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DPA2-1", "uniprot_id": [ { "id": "VSIG8_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DPA2", "type": "external" } ], "mass": 43891.0, "length": 414, "protein_name": "V-set and immunoglobulin domain-containing protein 8", "gene_name": "VSIG8", "organism": "Human", "refseq_name": "V-set and immunoglobulin domain-containing protein 8 precursor", "refseq_ac": [ { "id": "NP_001013683", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013683", "type": "external" } ], "gene_names_uniprotkb": "VSIG8; C1orf204", "gene_names_refseq": "VSIG8", "protein_names_uniprotkb": "V-set and immunoglobulin domain-containing protein 8", "protein_names_refseq": "V-set and immunoglobulin domain-containing protein 8 precursor; V-set and immunoglobulin domain-containing protein 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:391123)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5VU13;Q5VU14", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0DPA2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16989-1", "uniprot_id": [ { "id": "YBOX3_HUMAN", "url": "https://www.uniprot.org/uniprot/P16989", "type": "external" } ], "mass": 40090.0, "length": 372, "protein_name": "Y-box-binding protein 3", "gene_name": "YBX3", "organism": "Human", "refseq_name": "Y-box-binding protein 3 isoform b", "refseq_ac": [ { "id": "NP_001138898", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138898", "type": "external" } ], "gene_names_uniprotkb": "YBX3; CSDA; DBPA", "gene_names_refseq": "CSDA1; CSDA; DBPA; YBX3; ZONAB", "protein_names_uniprotkb": "Y-box-binding protein 3; Cold shock domain-containing protein A; DNA-binding protein A; Single-strand DNA-binding protein NF-GMB", "protein_names_refseq": "DNA-binding protein A; Y-box-binding protein 3 isoform b; ZO-1-associated nucleic acid-binding protein; cold shock domain-containing protein A; cold-shock domain containing A1; cold-shock domain protein A; single-strand DNA-binding protein NF-GMB", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); impulse control disorder (Disease Ontology:DOID:10937); depressive disorder (Disease Ontology:DOID:1596); severe acute respiratory syndrome (Disease Ontology:DOID:2945); carotid artery disease (Disease Ontology:DOID:3407); prolactinoma (Disease Ontology:DOID:5394); hepatocellular carcinoma (Disease Ontology:DOID:684); cocaine abuse (Disease Ontology:DOID:809); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:8531)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "11237011;12239625;15302935;17081983;18452278;18491316;18669648;19413330;19651622;19664995;19690332;19710015;20068231;20112406;21368869;21406692;22223895;22544926;22645359;23186163;23481700;24129315;24715725;25418920;25576301;25802875;26154972;26992070;27397612;27600516;27846572;27920218;28218747;28832583;28904123;29242379;29314611;29393594;29437277;29493099;29508533;29557506;29605689;2977358;30315122;30429286;30484775;31154438;31217245;31373491;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33633747;33936100;33968037;34019948;34171305;34185709;34211107;34357683;34932366;35051231;36010968;36215666;36284347;37074911;37217939;37418046;37612524;37938771;38159852;39894887;40596516;7628487;8710501", "class_list": "", "function": "Binds to the GM-CSF promoter. Seems to act as a repressor. Also binds to full-length mRNA and to short RNA sequences containing the consensus site 5'-UCCAUCA-3'. May have a role in translation repression (By similarity)., [UniProtKB]; Human dbpA has a role in accelerating hepatocarcinogenesis, [RefSeq, PubMed]; Identification of RNA-binding protein YBX3 as an oncogene in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; M6A-mediated-upregulation of lncRNA BLACAT3 promotes bladder cancer angiogenesis and hematogenous metastasis through YBX3 nuclear shuttling and enhancing NCF2 transcription. Erratum:[Oncogene. 2025 Oct;44(40):3879-3882. doi: 10.1038/s41388-025-03575-x. PMID: 40962859], [RefSeq, PubMed]; The YBX3 RNA-binding protein posttranscriptionally controls SLC1A5 mRNA in proliferating and differentiating skeletal muscle 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": 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": 17, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 12, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2RBW6;Q14121;Q969N6;Q96B76", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0043021 ribonucleoprotein complex binding;GO:0003676 nucleic acid binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005923 bicellular tight junction;GO:0045202 synapse", "go_biological_process": "GO:2000767 positive regulation of cytoplasmic translation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0010468 regulation of gene expression;GO:0070935 3'-UTR-mediated mRNA stabilization", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P16989-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17025-1", "uniprot_id": [ { "id": "ZN182_HUMAN", "url": "https://www.uniprot.org/uniprot/P17025", "type": "external" } ], "mass": 73646.0, "length": 639, "protein_name": "Zinc finger protein 182", "gene_name": "ZNF182", "organism": "Human", "refseq_name": "zinc finger protein 182 isoform 2", "refseq_ac": [ { "id": "NP_001007089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007089", "type": "external" } ], "gene_names_uniprotkb": "ZNF182; KOX14; ZNF21", "gene_names_refseq": "HHZ150; KOX14; ZNF182; ZNF21; Zfp182", "protein_names_uniprotkb": "Zinc finger protein 182; Zinc finger protein 21; Zinc finger protein KOX14", "protein_names_refseq": "zinc finger protein 182 isoform 2; zinc finger protein 21 (KOX 14); zinc finger protein KOX14", "tax_id": 9606, "disease": "", "pathway": " (hsa:7569)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "19664995;2288909;23647072;26154972;28832583;29393594;29493099;31217245;31530632;31844290;32157095;33968037;35051231;37217939", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [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": 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": "A2IDD7;Q3KP67;Q96QH7", "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:0031981 nuclear lumen;GO:0005634 nucleus", "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:0009891 positive regulation of biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "P17025-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51786-1", "uniprot_id": [ { "id": "ZN157_HUMAN", "url": "https://www.uniprot.org/uniprot/P51786", "type": "external" } ], "mass": 58291.0, "length": 506, "protein_name": "Zinc finger protein 157", "gene_name": "ZNF157", "organism": "Human", "refseq_name": "zinc finger protein 157", "refseq_ac": [ { "id": "NP_003437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003437", "type": "external" } ], "gene_names_uniprotkb": "ZNF157", "gene_names_refseq": "HZF22; ZNF157", "protein_names_uniprotkb": "Zinc finger protein 157; Zinc finger protein HZF22", "protein_names_refseq": "zinc finger protein 157; zinc finger protein 22; zinc finger protein HZF22", "tax_id": 9606, "disease": "", "pathway": " (hsa:7712); (R-HSA-212436)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;8183939;8586441;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene product is a likely zinc finger family transcription factor. It contains KRAB-A and KRAB-B domains that act as transcriptional repressors in related proteins, and multiple zinc finger DNA binding motifs and finger linking regions characteristic of the Kruppel family. This gene is part of a gene cluster on chromosome Xp11.23. [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": 0, "reported_glycation": 0, "reported_snv": 16, "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": "Q96LE9", "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": 1.8, "record_id": "P51786-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58557-1", "uniprot_id": [ { "id": "YBEY_HUMAN", "url": "https://www.uniprot.org/uniprot/P58557", "type": "external" } ], "mass": 19298.0, "length": 167, "protein_name": "Endoribonuclease YbeY", "gene_name": "YBEY", "organism": "Human", "refseq_name": "endoribonuclease YbeY isoform 3", "refseq_ac": [ { "id": "NP_001300951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300951", "type": "external" } ], "gene_names_uniprotkb": "YBEY; C21orf57", "gene_names_refseq": "C21orf57; YBEY", "protein_names_uniprotkb": "Endoribonuclease YbeY; 3.1.-.-", "protein_names_refseq": "endoribonuclease YbeY isoform 3; endoribonuclease YbeY; putative metalloprotease C21orf57; putative ribonuclease; rRNA maturation factor homolog; ybeY metallopeptidase (putative)", "tax_id": 9606, "disease": "", "pathway": " (hsa:54059)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11707072;20877624;22042635;28153719;28510447;33929506;34037799;35494241", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Single strand-specific metallo-endoribonuclease involved in rRNA maturation., [UniProtKB, PubMed]; This gene encodes a highly conserved metalloprotein. A similar protein in bacteria acts as an endoribonuclease, and is thought to function in ribosomal RNA maturation and ribosome assembly. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]; This observation suggests that the function of HuYbeY in human cells is likely regulated through specific interactions with partner proteins similarly to the way YbeY is regulated in bacteria., [RefSeq, PubMed]; YbeY is required for ribosome small subunit assembly and tRNA processing in human mitochondria., [RefSeq, PubMed]; YbeY, eminence grise of ribosome biogenesis. 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": 3, "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": "B7WPA9;B7WPF7;D3DSN2", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0004521 RNA endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion", "go_biological_process": "GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P58557-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0P140-1", "uniprot_id": [ { "id": "YA037_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0P140", "type": "external" } ], "mass": 8416.0, "length": 79, "protein_name": "Putative uncharacterized protein HSD52", "gene_name": "HSD52", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HSD52", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein HSD52", "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": "Q0P140-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VG73-1", "uniprot_id": [ { "id": "RDUR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VG73", "type": "external" } ], "mass": 10763.0, "length": 95, "protein_name": "Putative protein RDUR", "gene_name": "RDUR", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RDUR; LINC02085", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein RDUR; RIG-I dependent antiviral response regulator RNA", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "32157095;33592498;34054851;35580925", "class_list": "", "function": "Could play a role in innate immunity against viruses., [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": "Q0VG74", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q0VG73-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1RN00-1", "uniprot_id": [ { "id": "N3AS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1RN00", "type": "external" } ], "mass": 22217.0, "length": 199, "protein_name": "Uncharacterized protein NECTIN3-AS1", "gene_name": "NECTIN3-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "NECTIN3-AS1; PVRL3-AS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein NECTIN3-AS1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "28649982;29242379;32561536;34171305;37340703", "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": 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": 0, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q1RN00-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3C1V9-1", "uniprot_id": [ { "id": "YK041_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3C1V9", "type": "external" } ], "mass": 84939.0, "length": 767, "protein_name": "Putative uncharacterized protein ENSP00000334305", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ENSP00000334305", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "29605689", "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": "A6NNX0", "ec_number_list": [], "go_molecular_function": "GO:0004180 carboxypeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q3C1V9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q499Y3-1", "uniprot_id": [ { "id": "YJ016_HUMAN", "url": "https://www.uniprot.org/uniprot/Q499Y3", "type": "external" } ], "mass": 20452.0, "length": 187, "protein_name": "Putative uncharacterized protein C10orf88-like", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein C10orf88-like", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "27846572;30379171;31844290;33392160", "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": 0.7, "record_id": "Q499Y3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TFG8-1", "uniprot_id": [ { "id": "ZC21B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TFG8", "type": "external" } ], "mass": 24665.0, "length": 222, "protein_name": "Zinc finger C2HC domain-containing protein 1B", "gene_name": "ZC2HC1B", "organism": "Human", "refseq_name": "zinc finger C2HC domain-containing protein 1B", "refseq_ac": [ { "id": "NP_001013645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013645", "type": "external" } ], "gene_names_uniprotkb": "ZC2HC1B; C6orf94; FAM164B", "gene_names_refseq": "C6orf94; FAM164B; ZC2HC1B; dJ468K18.5", "protein_names_uniprotkb": "Zinc finger C2HC domain-containing protein 1B", "protein_names_refseq": "family with sequence similarity 164, member B; protein FAM164B; zinc finger C2HC domain-containing protein 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:153918)", "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": "B2RUZ7;Q5TFG9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5TFG8-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VSD8-1", "uniprot_id": [ { "id": "YI029_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VSD8", "type": "external" } ], "mass": 8201.0, "length": 79, "protein_name": "Putative uncharacterized protein LOC401522", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LOC401522", "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": 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": 0.1, "record_id": "Q5VSD8-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P9G9-1", "uniprot_id": [ { "id": "ZN449_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P9G9", "type": "external" } ], "mass": 59932.0, "length": 518, "protein_name": "Zinc finger protein 449", "gene_name": "ZNF449", "organism": "Human", "refseq_name": "zinc finger protein 449", "refseq_ac": [ { "id": "NP_689908", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689908", "type": "external" } ], "gene_names_uniprotkb": "ZNF449; ZSCAN19", "gene_names_refseq": "ZNF449; ZSCAN19", "protein_names_uniprotkb": "Zinc finger protein 449; Zinc finger and SCAN domain-containing protein 19", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 19; zinc finger protein 449", "tax_id": 9606, "disease": "", "pathway": " (hsa:203523)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "16636917;25546433;27862975;29557506;30429286;30833945;31154438;31492838;31844290;32157095;32387766;32488085;32938616;33298915;33912179;34171305;35051231;36241641;36284347", "class_list": "", "function": "During chondrogenic differentiation of human mesenchymal stem cells, ZNF449 was increased at an early stage, and its overexpression enhanced SOX9 and SOX6 only at the initial stage of the differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a nuclear protein that likely functions as a transcription factor. The protein includes an N-terminal SCAN domain, and seven C2H2-type zinc finger motifs. [provided by RefSeq, May 2010]., [RefSeq]; ZNF449 is a member of the zinc-finger family and it may function as a transcription 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5JRZ7;Q5JRZ8;Q6NZX2;Q8N3Q1;Q8TED7", "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:1990837 sequence-specific double-stranded 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", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q6P9G9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PIZ9-1", "uniprot_id": [ { "id": "TRAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PIZ9", "type": "external" } ], "mass": 21211.0, "length": 186, "protein_name": "T-cell receptor-associated transmembrane adapter 1", "gene_name": "TRAT1", "organism": "Human", "refseq_name": "T-cell receptor-associated transmembrane adapter 1 isoform 1", "refseq_ac": [ { "id": "NP_057472", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057472", "type": "external" } ], "gene_names_uniprotkb": "TRAT1; HSPC062; TCRIM", "gene_names_refseq": "HSPC062; TCRIM; TRAT1; TRIM; pp29/30", "protein_names_uniprotkb": "T-cell receptor-associated transmembrane adapter 1; T-cell receptor-interacting molecule; TRIM; pp29/30", "protein_names_refseq": "T cell receptor interacting molecule; T-cell receptor-associated transmembrane adapter 1 isoform 1; T-cell receptor-associated transmembrane adapter 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:50852); (R-HSA-1257604); (R-HSA-202424); (R-HSA-2219530); (R-HSA-6811558)", "pathway_count": 5, "publication_count": 92, "publication_id_list": "10191262;10698680;10716940;11147812;11237011;11358993;11390434;11803464;11884229;12167717;12473184;12660731;12767043;1325671;14514672;15122200;15125833;15145317;15371334;15541657;15718470;15834429;16056267;16160011;16339315;16356853;16356855;16456541;16612002;16647110;16978534;17047224;17072321;17135271;17200115;17363905;17468049;17496917;17548359;17626883;17728323;18079394;18317450;18594509;18606717;18754654;18755892;18817831;18829560;18925875;19185485;19411071;19576174;19644473;19805105;19901323;19962665;20231295;20338997;20522708;20713702;21188471;21317208;21368164;21478295;21668414;21827948;21976531;21984976;22120714;22188813;22588880;22802530;28218747;28832583;29242379;29493099;31844290;36184729;7479848;7637810;7744773;8550590;8601309;8645157;8657148;9252186;9362451;9687533;9736715;9895304;9990853", "class_list": "", "function": "Stabilizes the TCR (T-cell antigen receptor)/CD3 complex at the surface of T-cells., [UniProtKB, PubMed]; TRIM acts to chaperone CTLA-4 transport to the cell surface; this function would be required to account for the phenotypic and functional properties of CD8(+) Tregs., [RefSeq, PubMed]; The Roles and Mechanisms of TRAT1 in the Progression of 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": 4, "reported_mutagensis": 1, "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": "Q9NZX5", "ec_number_list": [], "go_molecular_function": "GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0042101 T cell receptor complex;GO:0034451 centriolar satellite", "go_biological_process": "GO:0007165 signal transduction;GO:0006968 cellular defense response;GO:0050850 positive regulation of calcium-mediated signaling;GO:0050862 positive regulation of T cell receptor signaling pathway;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q6PIZ9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXN2-1", "uniprot_id": [ { "id": "TRML4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXN2", "type": "external" } ], "mass": 21924.0, "length": 200, "protein_name": "Trem-like transcript 4 protein", "gene_name": "TREML4", "organism": "Human", "refseq_name": "trem-like transcript 4 protein precursor", "refseq_ac": [ { "id": "NP_937796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_937796", "type": "external" } ], "gene_names_uniprotkb": "TREML4; PRO34675; TLT4", "gene_names_refseq": "TLT-4; TLT4; TREML4", "protein_names_uniprotkb": "Trem-like transcript 4 protein; TLT-4; Triggering receptor expressed on myeloid cells-like protein 4", "protein_names_refseq": "TREM like transcript 4; trem-like transcript 4 protein precursor; trem-like transcript 4 protein; triggering receptor expressed on myeloid cells-like protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:285852); (R-HSA-198933)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12975309;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20237496;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;24975946;25703557;25716998;25848864;26284469;26300885;31076644;32292401;33392160;35051231;36329152;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Determined by von Kossa staining that TREML4 colocalizes with areas of microcalcification within coronary plaques. Overall, we present integrative RNA, DNA, and protein evidence implicating TREML4 in coronary artery calcification, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Positively regulates Toll-like receptor TLR7 signaling in macrophages., [UniProtKB, PubMed]; TREML4 Promotes Inflammatory Programs in Human and Murine Macrophages and Alters Atherosclerosis Lesion Composition in the Apolipoprotein E Deficient Mouse. Publication Status: Online-Only, [RefSeq, PubMed]; TREML4 mRNA Expression and Polymorphisms in Blood Leukocytes are Associated with Atherosclerotic Lesion Extension in Coronary Artery Disease. Publication Status: Online-Only, [RefSeq, PubMed]; TREML4 polymorphisms increase the mRNA in blood leukocytes in the progression of atherosclerosis. 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7ZL92", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0045087 innate immune response;GO:0034157 positive regulation of toll-like receptor 7 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q6UXN2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49591-1", "uniprot_id": [ { "id": "SYSC_HUMAN", "url": "https://www.uniprot.org/uniprot/P49591", "type": "external" } ], "mass": 58777.0, "length": 514, "protein_name": "Serine--tRNA ligase, cytoplasmic", "gene_name": "SARS1", "organism": "Human", "refseq_name": "serine--tRNA ligase, cytoplasmic isoform a", "refseq_ac": [ { "id": "NP_006504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006504", "type": "external" } ], "gene_names_uniprotkb": "SARS1; SARS; SERS", "gene_names_refseq": "NEDMAS; SARS1; SARS; SERRS; SERS", "protein_names_uniprotkb": "Serine--tRNA ligase, cytoplasmic; 6.1.1.11; SerRS; Seryl-tRNA synthetase; Seryl-tRNA(Ser/Sec) synthetase", "protein_names_refseq": "serine tRNA ligase 1, cytoplasmic; serine--tRNA ligase, cytoplasmic isoform a; serine--tRNA ligase, cytoplasmic; seryl-tRNA synthetase, cytoplasmic; seryl-tRNA(Ser/Sec) synthetase", "tax_id": 9606, "disease": "arteriovenous malformations of the brain (Disease Ontology:DOID:0060688); neurodevelopmental disorder with microcephaly, ataxia, and seizures (Disease Ontology:DOID:0070754); prostate carcinoma (Disease Ontology:DOID:10286); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:6301); (R-HSA-2408557); (R-HSA-379716)", "pathway_count": 3, "publication_count": 152, "publication_id_list": "10970870;11237011;11265756;11347887;11714285;11829477;11858721;12690580;1373391;14660560;14671330;15116427;15317934;15534230;15821744;16055448;16429158;16906134;17142313;17525332;1761529;18446792;19423847;19423848;19608861;19608919;20112406;22353712;22898188;23301498;23481700;24095058;24366607;24397554;24715725;24940000;25418920;25469497;25505266;25576301;25645385;25892735;26024233;26154972;26375851;26433229;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28236339;28446606;28467828;28514659;28655767;28832583;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29632711;29741879;29769354;29786170;30315122;30410026;30429286;30573663;30779550;31092671;31222486;31530632;31844290;31848261;31937595;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33351793;33392160;33465208;33537174;33592498;33633747;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34268557;34357683;34405274;34509645;34561969;34570399;34725712;35051231;35138101;35154160;35251023;35318648;35580925;35790048;36010968;36041817;36215666;36241641;36284347;37217939;37739431;37938771;38665916;40596516;4130389;6022858;656444;7118399;7654687;8052601;8078941;8188258;8428657;8449960;8890909;9278442;9421509;9431993;9637248", "class_list": "", "function": "Catalyzes the attachment of serine to tRNA(Ser) in a two-step reaction: serine is first activated by ATP to form Ser-AMP and then transferred to the acceptor end of tRNA(Ser) (PubMed:22353712, PubMed:24095058, PubMed:26433229, PubMed:28236339, PubMed:34570399, PubMed:36041817, PubMed:9431993). Is probably also able to aminoacylate tRNA(Sec) with serine, to form the misacylated tRNA L-seryl-tRNA(Sec), which will be further converted into selenocysteinyl-tRNA(Sec) (PubMed:26433229, PubMed:28236339, PubMed:34570399, PubMed:9431993). In the nucleus, binds to the VEGFA core promoter and prevents MYC binding and transcriptional activation by MYC (PubMed:24940000). Recruits SIRT2 to the VEGFA promoter, promoting deacetylation of histone H4 at 'Lys-16' (H4K16). Thereby, inhibits the production of VEGFA and sprouting angiogenesis mediated by VEGFA (PubMed:19423847, PubMed:19423848, PubMed:24940000)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Seryl-tRNA synthetase promotes translational readthrough by mRNA binding and involvement of the selenocysteine incorporation machinery., [RefSeq, PubMed]; This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]., [RefSeq]; WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly., [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": 2, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R6Y9;Q5T5C8;Q9NSE3", "ec_number_list": [ { "id": "6.1.1.11", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.11", "type": "external" } ], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0042803 protein homodimerization activity;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0001514 selenocysteine incorporation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006400 tRNA modification;GO:0016525 negative regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "P49591-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5K3-1", "uniprot_id": [ { "id": "SG196_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5K3", "type": "external" } ], "mass": 40050.0, "length": 350, "protein_name": "Protein O-mannose kinase", "gene_name": "POMK", "organism": "Human", "refseq_name": "protein O-mannose kinase", "refseq_ac": [ { "id": "NP_001264900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264900", "type": "external" } ], "gene_names_uniprotkb": "POMK; SGK196", "gene_names_refseq": "MDDGA12; MDDGC12; POMK; SGK196", "protein_names_uniprotkb": "Protein O-mannose kinase; 2.7.1.183; POMK; Protein kinase-like protein SgK196; Sugen kinase 196", "protein_names_refseq": "Sugen kinase 196; probable inactive protein kinase-like protein SgK196; protein O-mannose kinase", "tax_id": 9606, "disease": "congenital muscular dystrophy-dystroglycanopathy type A12 (Disease Ontology:DOID:0111235); muscular dystrophy-dystroglycanopathy type C12 (Disease Ontology:DOID:0112381); hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:84197); (R-HSA-8932505)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12471243;14724282;17344846;22958903;23453667;23481700;23519211;23929950;24190977;24556084;24925318;25576301;26154972;26992070;27066570;27846572;28514659;28832583;28904123;29242379;29314611;29393594;29741879;30524438;31217245;31833209;31844290;32502341;32707033;32897882;32938616;33592498;33936100;33968037;34357683;35051231;35289036;35580925;36010968;37074911;38665916", "class_list": "glycan-modifying enzyme;glycogene", "function": "Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability., [RefSeq, PubMed]; Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases., [RefSeq, PubMed]; POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations., [RefSeq, PubMed]; Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families., [RefSeq, PubMed]; Protein O-mannose kinase that specifically mediates phosphorylation at the 6-position of an O-mannose of the trisaccharide (N-acetylgalactosamine (GalNAc)-beta-1,3-N-acetylglucosamine (GlcNAc)-beta-1,4-mannose) to generate phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-1,3-N-acetylglucosamine-beta-1,4-(phosphate-6-)mannose). Phosphorylated O-mannosyl trisaccharide is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Only shows kinase activity when the GalNAc-beta-3-GlcNAc-beta-terminus is linked to the 4-position of O-mannose, suggesting that this disaccharide serves as the substrate recognition motif., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; These findings suggest how mutations in GTDC2, B3GALNT2, and SGK196 disrupt dystroglycan receptor function and lead to congenital muscular dystrophy., [RefSeq, PubMed]; This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene 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": 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": 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": 476, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 3, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.1.183", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.183", "type": "external" } ], "go_molecular_function": "GO:0019158 mannokinase activity;GO:0004672 protein kinase activity;GO:0005524 ATP binding;GO:0019200 carbohydrate kinase activity;GO:0016773 phosphotransferase activity, alcohol group as acceptor", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0006493 protein O-linked glycosylation;GO:0007420 brain development;GO:0046835 carbohydrate phosphorylation", "synthesized_glycan_count": 17, "hit_score": 5.8, "record_id": "Q9H5K3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.10010", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14798-1", "uniprot_id": [ { "id": "TR10C_HUMAN", "url": "https://www.uniprot.org/uniprot/O14798", "type": "external" } ], "mass": 27407.0, "length": 259, "protein_name": "Tumor necrosis factor receptor superfamily member 10C", "gene_name": "TNFRSF10C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TNFRSF10C; DCR1; LIT; PRO366; TRAILR3; TRID", "gene_names_refseq": "", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 10C; Antagonist decoy receptor for TRAIL/Apo-2L; DcR1; Decoy TRAIL receptor without death domain; Decoy receptor 1; Lymphocyte inhibitor of TRAIL; TNF-related apoptosis-inducing ligand receptor 3; TRAIL receptor 3; TRAIL receptor without an intracellular domain; TRAIL-R3", "protein_names_refseq": "", "tax_id": 9606, "disease": "colon cancer (Disease Ontology:DOID:219); osteoarthritis (Disease Ontology:DOID:8398)", "pathway": " (hsa:8794); (R-HSA-6803211)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10777207;11237011;11382926;12975309;14623878;15289308;15340161;15769996;16230375;19615968;20353938;23365256;26378048;29632046;30459171;34087483;36241641;7566179;9242610;9242611;9314565;9325248;9326928;9373179;9551946", "class_list": "", "function": "Acts as a receptor for the cytotoxic ligand TRAIL but does not contain the intracellular death domain required to initiate apoptosis. By competing with the functional TRAIL receptors TNFRSF10A and TNFRSF10B for ligand binding, it functions as a decoy receptor that protects cells from TRAIL-induced apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 3, "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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_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": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O14755;Q08AS6;Q6FH98;Q6UXM5", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0045569 TRAIL binding;GO:0140319 receptor decoy activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0098552 side of membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0036462 TRAIL-activated apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "O14798-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQG1-1", "uniprot_id": [ { "id": "SYT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQG1", "type": "external" } ], "mass": 63304.0, "length": 590, "protein_name": "Synaptotagmin-3", "gene_name": "SYT3", "organism": "Human", "refseq_name": "synaptotagmin-3", "refseq_ac": [ { "id": "NP_001153800", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153800", "type": "external" } ], "gene_names_uniprotkb": "SYT3", "gene_names_refseq": "SYT3; SytIII", "protein_names_uniprotkb": "Synaptotagmin-3; Synaptotagmin III; SytIII", "protein_names_refseq": "synaptotagmin III; synaptotagmin-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84258)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11230166;11237011;16959974;23999003;27065097;28855257;32350084;32387766;34087483;35051231;35251023;36010968;37217939", "class_list": "", "function": "Ca(2+) sensor involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain. Ca(2+) induces binding of the C2-domains to phospholipid membranes and to assembled SNARE-complexes; both actions contribute to triggering exocytosis (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, UniProtKB, PubMed]; The extended synaptotagmins (E-Syts), endoplasmic reticulum (ER) proteins that function as PtdIns(4,5)P2- and Ca(2+)-regulated tethers to the Pplasma membrane., [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": 10, "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": "Q8N5Z1;Q8N640", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0045202 synapse;GO:0030658 transport vesicle membrane;GO:0070382 exocytic vesicle", "go_biological_process": "GO:1903861 positive regulation of dendrite extension;GO:0030154 cell differentiation;GO:0007268 chemical synaptic transmission;GO:0016192 vesicle-mediated transport;GO:0031340 positive regulation of vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9BQG1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXU3-1", "uniprot_id": [ { "id": "TX13A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXU3", "type": "external" } ], "mass": 45583.0, "length": 409, "protein_name": "Testis-expressed protein 13A", "gene_name": "TEX13A", "organism": "Human", "refseq_name": "testis-expressed protein 13A", "refseq_ac": [ { "id": "NP_001278206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278206", "type": "external" } ], "gene_names_uniprotkb": "TEX13A", "gene_names_refseq": "TEX13A", "protein_names_uniprotkb": "Testis-expressed protein 13A", "protein_names_refseq": "testis-expressed protein 13A; testis-expressed sequence 13A protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:56157)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11279525;21256132;25576301;31844290;31848261;33981976;35051231", "class_list": "", "function": "Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Plays a role in transcriptional repression (By similarity). Required for rapid sperm motility and timely degradation of mRNA via its interaction with CNOT1 (By similarity)., [UniProtKB, UniProtKB, PubMed]; Tex13a was identified as a spermatagonia-specific gene in mouse., [RefSeq, PubMed]; This gene is similar to a mouse gene that is expressed in the testis. Alternative splicing results in multiple transcript variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B1B1G8;Q32NB6", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9BXU3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37837-1", "uniprot_id": [ { "id": "TALDO_HUMAN", "url": "https://www.uniprot.org/uniprot/P37837", "type": "external" } ], "mass": 37540.0, "length": 337, "protein_name": "Transaldolase", "gene_name": "TALDO1", "organism": "Human", "refseq_name": "transaldolase", "refseq_ac": [ { "id": "NP_006746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006746", "type": "external" } ], "gene_names_uniprotkb": "TALDO1; TALDOR; TALDO; TAL", "gene_names_refseq": "TAL-H; TALDO1; TALDOR; TALH; TAL", "protein_names_uniprotkb": "Transaldolase; 2.2.1.2", "protein_names_refseq": "dihydroxyacetone transferase; glycerone transferase; testicular secretory protein Li 56; transaldolase", "tax_id": 9606, "disease": "carbohydrate metabolic disorder (Disease Ontology:DOID:2978); transaldolase deficiency (MONDO:MONDO:0011624)", "pathway": " (hsa:6888); (R-HSA-163754); (R-HSA-6791055); (R-HSA-6791462); (R-HSA-71336); (R-HSA-8950505); (R-HSA-9818028)", "pathway_count": 7, "publication_count": 122, "publication_id_list": "10518023;10702296;10869557;11237011;11283793;12234984;14988808;15877206;16038020;16339578;17081983;17145369;17377532;17585908;17804405;18186520;18331807;18560757;18687684;18767875;18775706;18987987;19273602;19415658;19608861;20068231;20166139;20923965;21775727;22223895;22682222;22789539;22965115;23186163;23315216;24097415;24275569;25229427;25388407;25576301;25645385;2581946;26154972;26374642;26768311;26992070;27703206;27862975;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632711;29786170;30192525;30323337;30397120;30429286;30833945;31154438;31217245;31844290;31848261;31989830;32157095;32284348;32303435;32336239;32350084;32387766;32488085;32582032;32649885;32828637;32870666;32938616;32983136;33043033;33123756;33141586;33214551;33592498;33633747;33717175;33859744;33912179;33968037;34019948;34171305;34229054;34282517;34357683;34677006;34725712;35051231;35138101;35154160;35251023;35580925;36010968;36215666;36241641;36284347;37938771;38665916;3932573;39894887;3994686;40914422;7396409;8300619;8955144;9339383;9357955;9524206;9920387", "class_list": "", "function": "Catalyzes the rate-limiting step of the non-oxidative phase in the pentose phosphate pathway. Catalyzes the reversible conversion of sedheptulose-7-phosphate and D-glyceraldehyde 3-phosphate into erythrose-4-phosphate and beta-D-fructose 6-phosphate., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1., [RefSeq, PubMed]; SLC1A5 co-expression with TALDO1 associates with endocrine therapy failure in estrogen receptor-positive breast cancer., [RefSeq, PubMed]; These results pinpoint transaldolase as a novel metabolic enzyme possessing synthetic lethality with HER2 inhibition. Publication Status: Online-Only, [RefSeq, PubMed]; Transaldolase 1 is a key enzyme of the nonoxidative pentose phosphate pathway providing ribose-5-phosphate for nucleic acid synthesis and NADPH for lipid biosynthesis. This pathway can also maintain glutathione at a reduced state and thus protect sulfhydryl groups and cellular integrity from oxygen radicals. The functional gene of transaldolase 1 is located on chromosome 11 and a pseudogene is identified on chromosome 1 but there are conflicting map locations. The second and third exon of this gene were developed by insertion of a retrotransposable element. This gene is thought to be involved in multiple sclerosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate 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": 5, "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": "B2R8M2;O00751;Q8WV32;Q8WZ45", "ec_number_list": [ { "id": "2.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.2.1.2", "type": "external" } ], "go_molecular_function": "GO:0004801 transaldolase activity;GO:0048029 monosaccharide binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009052 pentose-phosphate shunt, non-oxidative branch;GO:0005975 carbohydrate metabolic process;GO:0006002 fructose 6-phosphate metabolic process;GO:0006098 pentose-phosphate shunt", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "P37837-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SS6-1", "uniprot_id": [ { "id": "SYT9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SS6", "type": "external" } ], "mass": 56188.0, "length": 491, "protein_name": "Synaptotagmin-9", "gene_name": "SYT9", "organism": "Human", "refseq_name": "synaptotagmin-9", "refseq_ac": [ { "id": "NP_783860", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_783860", "type": "external" } ], "gene_names_uniprotkb": "SYT9", "gene_names_refseq": "SYT9", "protein_names_uniprotkb": "Synaptotagmin-9; Synaptotagmin IX; SytIX", "protein_names_refseq": "synaptotagmin IX; synaptotagmin-9; sytIX", "tax_id": 9606, "disease": "", "pathway": " (hsa:143425); (R-HSA-6794361); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 4, "publication_count": 227, "publication_id_list": "10097102;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11231140;11237011;11239472;11247302;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11604393;11877457;11877461;11889126;11919637;11927540;11988742;12057195;12086608;12213833;12221107;12234931;12429842;12447393;12451172;12464600;12717448;12847086;12944396;12952949;12958364;1317852;14555962;14581451;14617351;14622578;14622579;14662753;14726597;15134832;15252009;15260957;15318165;15339664;1535555;15473838;15502812;15502813;15540461;15649145;15671180;15703209;15728179;15802264;15895077;15916959;16103228;16159959;16215232;16242404;16326391;16410077;16459302;16460808;16516836;16624946;16707488;16723738;16798879;16846852;16880396;16903783;16959974;17018281;17035995;17158794;17267500;17360967;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17713526;17762867;17765681;17897391;17978091;18032517;18093523;18166656;18199683;18388313;1847920;18775314;18790740;18812509;18819912;18829961;18981233;19092055;19140243;19287005;19296720;19458185;19536138;19575674;19603039;1968060;19696796;19696798;19713939;19732400;19776351;19809571;19853559;20033059;20059951;20064387;20064388;20211604;20231386;20351096;20428113;20448150;20519524;20826345;20946875;21102408;2115402;21187331;21220648;21278753;21282647;21316588;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23297414;23536704;23823722;23861397;23891661;24130457;24186068;24384571;24581490;24680432;24746795;24789820;24966051;25107275;25303366;25341920;25378172;26042225;26403691;26829388;28005267;28834160;2890644;29557506;33392160;3417785;35494241;37677740;6146630;7569928;7695896;7736595;7822302;7877694;8524399;8552632;8553074;8576240;8837779;9069287;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9808458;9812899;9927700", "class_list": "", "function": "May be involved in Ca(2+)-dependent exocytosis of secretory vesicles through Ca(2+) and phospholipid binding to the C2 domain or may serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis., [UniProtKB]; SYT9 expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; The Zika virus infection remodels the expression of the synaptotagmin-9 secretory protein. Publication Status: Online-Only, [RefSeq, PubMed]; The intronic SYT9 variant rs11041321, which exhibits a significant genome-wide association with circulating homocysteine, was associated with the occurrence of congenital cardiac septal defects (CCSDs). This finding helps to characterize the unexpected role of SYT9 in homocysteine metabolism and the development of CCSDs, which further highlighted the interplay of diet, genetics, and human birth defects, [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030669 clathrin-coated endocytic vesicle membrane;GO:0030672 synaptic vesicle membrane;GO:0070382 exocytic vesicle;GO:0031045 dense core granule", "go_biological_process": "GO:0007268 chemical synaptic transmission;GO:0016192 vesicle-mediated transport;GO:0031340 positive regulation of vesicle fusion;GO:0017158 regulation of calcium ion-dependent exocytosis;GO:0099502 calcium-dependent activation of synaptic vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "Q86SS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY72-1", "uniprot_id": [ { "id": "SCN3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY72", "type": "external" } ], "mass": 24702.0, "length": 215, "protein_name": "Sodium channel regulatory subunit beta-3", "gene_name": "SCN3B", "organism": "Human", "refseq_name": "sodium channel regulatory subunit beta-3 precursor", "refseq_ac": [ { "id": "NP_001035241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035241", "type": "external" } ], "gene_names_uniprotkb": "SCN3B; KIAA1158", "gene_names_refseq": "ATFB16; BRGDA7; HSA243396; SCN3B; SCNB3", "protein_names_uniprotkb": "Sodium channel regulatory subunit beta-3", "protein_names_refseq": "sodium channel regulatory subunit beta-3 precursor; sodium channel regulatory subunit beta-3; sodium channel subunit beta-3; sodium channel, voltage-gated, type III, beta subunit; voltage-gated sodium channel beta-3 subunit", "tax_id": 9606, "disease": "Brugada syndrome 7 (Disease Ontology:DOID:0110224); brain edema (Disease Ontology:DOID:4724)", "pathway": " (hsa:55800); (R-HSA-445095); (R-HSA-5576892)", "pathway_count": 3, "publication_count": 32, "publication_id_list": "10688874;11222639;11230166;11237011;11290418;1309946;14500339;14975698;15000524;16597699;16904324;16959974;17223356;18184654;19406745;20031595;20042427;20558140;21051419;21127204;21566136;21817159;22054663;22514276;23804213;24567321;29769354;31626714;31950564;35051231;35301303;8107964", "class_list": "", "function": "Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues. The accessory beta subunits participate in localization and functional modulation of the Nav channels (PubMed:20558140, PubMed:21051419). Modulates the activity of SCN2A/Nav1.2, causing a hyperpolarizing shift in the voltage-dependence of inactivation of the channel and increasing the fraction of channels operating in the fast gating mode (By similarity). Modulates the activity of SCN5A/Nav1.5 (PubMed:20558140, PubMed:21051419, PubMed:24567321, PubMed:31950564). Could also regulate the atypical sodium channel SCN7A/Nav2.1 (PubMed:35301303). Modulates the activity of SCN10A/Nav1.8, regulating its oligomerization and accelerating the recovery from inactivation (PubMed:14975698)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel beta subunit gene family, and influences the inactivation kinetics of the sodium channel. Two alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Voltage-gated sodium channels beta3 subunit promotes tumorigenesis in hepatocellular carcinoma by facilitating p53 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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A5H1I5;Q17RL3;Q9ULR2", "ec_number_list": [], "go_molecular_function": "GO:0019871 sodium channel inhibitor activity;GO:0017080 sodium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0086006 voltage-gated sodium channel activity involved in cardiac muscle cell action potential;GO:0005272 sodium channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030018 Z disc;GO:0001518 voltage-gated sodium channel complex", "go_biological_process": "GO:0060373 regulation of ventricular cardiac muscle cell membrane depolarization;GO:0007399 nervous system development;GO:0042391 regulation of membrane potential;GO:0072659 protein localization to plasma membrane;GO:0051899 membrane depolarization", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NY72-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12893-1", "uniprot_id": [ { "id": "TM115_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12893", "type": "external" } ], "mass": 38197.0, "length": 351, "protein_name": "Transmembrane protein 115", "gene_name": "TMEM115", "organism": "Human", "refseq_name": "transmembrane protein 115", "refseq_ac": [ { "id": "NP_008955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008955", "type": "external" } ], "gene_names_uniprotkb": "TMEM115; LUCA11.2; PL6", "gene_names_refseq": "PL6; TMEM115", "protein_names_uniprotkb": "Transmembrane protein 115; Placental protein 6; Protein PL6", "protein_names_refseq": "PP6; placental protein 6; testicular tissue protein Li 201; transmembrane protein 115", "tax_id": 9606, "disease": "", "pathway": " (hsa:11070); (R-HSA-6807878)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "10052452;10318838;10445031;10559959;10679020;10761932;10903204;10921873;11035033;11085536;11172815;11285137;11306556;11461920;11689559;11703931;11726511;11748249;12047556;12070132;12388752;12634853;14654841;14742712;15037235;15616190;15632110;15728195;15813748;15878873;16030262;1631136;16633337;16723730;1680566;16912714;16926190;16940185;17253781;17274799;17360540;17429068;17451557;17760859;17927562;17956946;17973242;18086915;18182008;18283113;18524849;18809720;1898986;19007248;19015319;19109418;19164740;19296914;19413330;1957170;19631211;19758564;20068231;20357002;20427317;20637885;21219331;21689688;21844168;22013193;22094269;22304919;23186163;23839779;24119662;24275569;24806965;25436559;25492864;30192525;31844290;32157095;32161166;32938616;33592498;33912179;33968037;34357683;35051231;35580925;36215666;36241641;7691276;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8636227;8991093;9114004;9150144;9177194;9244307;9288971;9323141;9380700;9382863;9405360;9490716;9671725;9751720;9990005", "class_list": "", "function": "May play a role in retrograde transport of proteins from the Golgi to the endoplasmic reticulum. May indirectly play a role in protein glycosylation in the Golgi., [UniProtKB, PubMed]; Results establish that TMEM115 is an integral membrane protein of the Golgi stack regulating Golgi-to-ER retrograde transport and is likely to be part of the machinery of the COG complex., [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2IDB7;O14568;Q6IAY4;Q9UIX3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005794 Golgi apparatus;GO:0032580 Golgi cisterna membrane", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0015031 protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q12893-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5U5-1", "uniprot_id": [ { "id": "TNR18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5U5", "type": "external" } ], "mass": 26000.0, "length": 241, "protein_name": "Tumor necrosis factor receptor superfamily member 18", "gene_name": "TNFRSF18", "organism": "Human", "refseq_name": "tumor necrosis factor receptor superfamily member 18 isoform 1 precursor", "refseq_ac": [ { "id": "NP_004186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004186", "type": "external" } ], "gene_names_uniprotkb": "TNFRSF18; AITR; GITR; PRO364", "gene_names_refseq": "AITR; CD357; ENERGEN; GITR-D; GITR; TNFRSF18", "protein_names_uniprotkb": "Tumor necrosis factor receptor superfamily member 18; Activation-inducible TNFR family receptor; Glucocorticoid-induced TNFR-related protein", "protein_names_refseq": "TNF receptor superfamily activation-inducible protein; activation-inducible TNFR family receptor; glucocorticoid-induced TNFR-related protein; tumor necrosis factor receptor superfamily member 18 isoform 1 precursor; tumor necrosis factor receptor superfamily member 18", "tax_id": 9606, "disease": "anogenital venereal wart (Disease Ontology:DOID:11168); HTLV-1-associated myelopathy/tropical spastic paraparesis (Disease Ontology:DOID:321)", "pathway": " (hsa:8784); (R-HSA-5669034); (R-HSA-8877330)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10037686;10074428;10359578;10398604;10484778;10533284;10597252;10615125;10836847;11237011;11571266;11882293;11911831;12189164;12220513;12949498;12975309;14656435;15340161;15356117;15470070;16501042;1655907;16873067;17377532;17632511;18571443;18606301;19800266;20032458;20222921;20307208;20510730;20979233;21300286;22197273;22664871;22801960;24070496;24715725;26992070;28904123;29493099;31154438;33654081;34102305;34433824;34589088;34908008;36155259;36284347;7913952;8120384;8871664;9878548", "class_list": "", "function": "DNA Methylation and mRNA Expression of OX40 (TNFRSF4) and GITR (TNFRSF18, AITR) in Head and Neck Squamous Cell Carcinoma Correlates With HPV Status, Mutational Load, an Interferon-gamma Signature, Signatures of Immune Infiltrates, and Survival., [RefSeq, PubMed]; GITR Ligation Improves Anti-PD1-Mediated Restoration of Human MMR-Proficient Colorectal Carcinoma Tumor-Derived T Cells., [RefSeq, PubMed]; GITR Promotes the Polarization of TFH-Like Cells in Helicobacter pylori-Positive Gastritis. Publication Status: Online-Only, [RefSeq, PubMed]; Glucocorticoid induced TNF receptor family-related protein (GITR) - A novel driver of atherosclerosis. Review article, [RefSeq, PubMed]; Receptor for TNFSF18. Seems to be involved in interactions between activated T-lymphocytes and endothelial cells and in the regulation of T-cell receptor-mediated cell death. Mediated NF-kappa-B activation via the TRAF2/NIK pathway., [UniProtKB]; Structures of mouse and human GITR-GITRL complexes reveal unique TNF superfamily interactions. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the TNF-receptor superfamily. The encoded receptor has been shown to have increased expression upon T-cell activation, and it is thought to play a key role in dominant immunological self-tolerance maintained by CD25(+)CD4(+) regulatory T cells. Knockout studies in mice also suggest the role of this receptor is in the regulation of CD3-driven T-cell activation and programmed cell death. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [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": 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": 6, "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": "B1AME1;O95851;Q5U0I4;Q9NYJ9", "ec_number_list": [], "go_molecular_function": "GO:0005031 tumor necrosis factor receptor activity", "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:0043066 negative regulation of apoptotic process;GO:0045785 positive regulation of cell adhesion;GO:0006915 apoptotic process;GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9Y5U5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EF9-1", "uniprot_id": [ { "id": "ZHX1R_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EF9", "type": "external" } ], "mass": 33285.0, "length": 292, "protein_name": "Zinc fingers and homeoboxes protein 1, isoform 2", "gene_name": "ZHX1-C8orf76", "organism": "Human", "refseq_name": "zinc fingers and homeoboxes protein 1, isoform 2", "refseq_ac": [ { "id": "NP_001191109", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191109", "type": "external" } ], "gene_names_uniprotkb": "ZHX1-C8orf76; C8orf76", "gene_names_refseq": "ZHX1-C8orf76", "protein_names_uniprotkb": "Zinc fingers and homeoboxes protein 1, isoform 2; ZHX1-C8orf76 readthrough transcript protein", "protein_names_refseq": "ZHX1-C8orf76 readthrough transcript protein; zinc fingers and homeoboxes protein 1, isoform 2; zinc fingers and homeoboxes protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100533106)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;25576301;26992070;27846572;30410026;31844290;32157095;32357974;32387766;32938616;32983136;33298915;33717175;33968037;33981976;34087483;34185709;34509645;34932366;35051231;35580925;36010968;36241641", "class_list": "", "function": "This locus represents naturally occurring read-through transcription between the neighboring zinc fingers and homeoboxes 1 (ZHX1) and chromosome 8 open reading frame 76 (C8orf76) genes. The read-through transcript encodes a protein that shares sequence identity with the downstream gene, but it has a distinct N-terminus encoded by exon structure from the upstream 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2.4, "record_id": "Q96EF9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCE3-1", "uniprot_id": [ { "id": "ZN532_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCE3", "type": "external" } ], "mass": 141696.0, "length": 1301, "protein_name": "Zinc finger protein 532", "gene_name": "ZNF532", "organism": "Human", "refseq_name": "zinc finger protein 532 isoform a", "refseq_ac": [ { "id": "NP_001305655", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305655", "type": "external" } ], "gene_names_uniprotkb": "ZNF532; KIAA1629", "gene_names_refseq": "ZNF532", "protein_names_uniprotkb": "Zinc finger protein 532", "protein_names_refseq": "zinc finger protein 532 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:55205); (R-HSA-9940951)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10204490;10970879;10978333;11237011;16959974;17081983;17287340;17646674;18507432;18669648;19651622;19664995;20068231;21406692;23186163;23481700;24554700;25150861;25576301;25593309;25645385;26992070;27600516;27633282;27732854;27846572;28484033;28832583;29042441;29237092;29242379;29393594;29557506;30045876;30059200;30134174;30379171;30429286;30524438;31492838;31746185;31844290;32157095;32350084;32387766;32502341;32938616;32938750;32983136;33091337;33141586;33592498;33936100;33968037;34087483;34171305;34839589;34846842;35051231;35064291;35112956;35254053;35289036;35513511;35561310;35580925;36008597;36010968;36215666;37938771;38665916;38811189;39531497;7969165;9512513", "class_list": "", "function": "CircZNF532 knockdown protects retinal pigment epithelial cells against high glucose-induced apoptosis and pyroptosis by regulating the miR-20b-5p/STAT3 axis., [RefSeq, PubMed]; CircZNF532 promotes endothelial-to-mesenchymal transition in diabetic retinopathy by recruiting TAF15 to stabilize PIK3CD., [RefSeq, PubMed]; Foxhead box D1 promotes the partial epithelial-to-mesenchymal transition of laryngeal squamous cell carcinoma cells via transcriptionally activating the expression of zinc finger protein 532., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; NUT carcinoma of the parotid gland: report of two cases, one with a rare ZNF532-NUTM1 fusion., [RefSeq, PubMed]; The authors discovered ZNF532 associated with BRD4-NUT in NMC patient cells. ChIP sequencing revealed the formation of ZNF532-NUT-associated hyperacetylated megadomains, distinctly localized but otherwise analogous to those found in BRD4-NUT patient cells., [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": 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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 42, "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": "Q4G0V6;Q7L7Z7;Q96QR7;Q9NVJ6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9HCE3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7M2-1", "uniprot_id": [ { "id": "ZN283_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7M2", "type": "external" } ], "mass": 77942.0, "length": 679, "protein_name": "Zinc finger protein 283", "gene_name": "ZNF283", "organism": "Human", "refseq_name": "zinc finger protein 283 isoform 2", "refseq_ac": [ { "id": "NP_001284681", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284681", "type": "external" } ], "gene_names_uniprotkb": "ZNF283", "gene_names_refseq": "HZF19; HZF41; ZNF283", "protein_names_uniprotkb": "Zinc finger protein 283; Zinc finger protein HZF19", "protein_names_refseq": "zinc finger protein 283 isoform 2; zinc finger protein 41; zinc finger protein HZF19", "tax_id": 9606, "disease": "", "pathway": " (hsa:284349)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12743021;28218747;29393594;29437277;31844290;33981976;35580925;7865130", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DGZ5;B7WP04;Q6RFR9;Q86WM6", "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_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": 1.0, "record_id": "Q8N7M2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17019-1", "uniprot_id": [ { "id": "ZN708_HUMAN", "url": "https://www.uniprot.org/uniprot/P17019", "type": "external" } ], "mass": 64779.0, "length": 563, "protein_name": "Zinc finger protein 708", "gene_name": "ZNF708", "organism": "Human", "refseq_name": "zinc finger protein 708 isoform 1", "refseq_ac": [ { "id": "NP_067092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067092", "type": "external" } ], "gene_names_uniprotkb": "ZNF708; KOX8; ZNF15L1; ZNF15", "gene_names_refseq": "KOX8; ZNF15L1; ZNF15; ZNF708", "protein_names_uniprotkb": "Zinc finger protein 708; Zinc finger protein 15-like 1; Zinc finger protein 15; Zinc finger protein KOX8", "protein_names_refseq": "ZNF15, ZNF15L1; zinc finger protein 15-like 1 (KOX 8); zinc finger protein 708 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7562); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 32, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;21406692;2163759;2288909;25274305;26813693;28273063;30379171;31289231;31427381;34185709;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 1, "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": "Q6ZMR0", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0003677 DNA 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": 3.5, "record_id": "P17019-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0B9-1", "uniprot_id": [ { "id": "ZCHC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0B9", "type": "external" } ], "mass": 125936.0, "length": 1178, "protein_name": "Zinc finger CCHC domain-containing protein 2", "gene_name": "ZCCHC2", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 2", "refseq_ac": [ { "id": "NP_060212", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060212", "type": "external" } ], "gene_names_uniprotkb": "ZCCHC2; C18orf49; KIAA1744", "gene_names_refseq": "C18orf49; ZCCHC2", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 2", "protein_names_refseq": "zinc finger CCHC domain-containing protein 2; zinc finger, CCHC domain containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54877)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;17081983;19651622;21406692;24715725;26154972;26375851;27920218;28657654;28832583;29242379;29557506;30315122;30524438;31092671;31844290;31848261;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33968037;34211107;34509645;34932366;35051231;35254053;35580925;36241641;36284347", "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": 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": 24, "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": "B2RPG6;Q8N3S1;Q9NXF6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0035091 phosphatidylinositol binding", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9C0B9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDW4-1", "uniprot_id": [ { "id": "ZN248_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDW4", "type": "external" } ], "mass": 67087.0, "length": 579, "protein_name": "Zinc finger protein 248", "gene_name": "ZNF248", "organism": "Human", "refseq_name": "zinc finger protein 248 isoform 1", "refseq_ac": [ { "id": "NP_001254526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254526", "type": "external" } ], "gene_names_uniprotkb": "ZNF248", "gene_names_refseq": "ZNF248; bA162G10.3", "protein_names_uniprotkb": "Zinc finger protein 248", "protein_names_refseq": "KRAB protein domain; Kruppel-type zinc finger protein; bA162G10.3 (zinc finger protein); zinc finger protein 248 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57209); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11237011;11395415;12566394;14519192;15175151;15896744;16385451;16606702;16719718;2163759;25880248;27238579;28228285;30429286;31844290;32357974;33912179;35051231;39894887;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Smoking and obesity are risk factors for LOA. ZNF248 confers increased susceptibility to LOA in African Americans., [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": "Q8NDV8;Q9UMP3", "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: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": 2.8, "record_id": "Q8NDW4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MT70-1", "uniprot_id": [ { "id": "ZBBX_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MT70", "type": "external" } ], "mass": 91426.0, "length": 800, "protein_name": "Zinc finger B-box domain-containing protein 1", "gene_name": "ZBBX", "organism": "Human", "refseq_name": "zinc finger B-box domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_078963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078963", "type": "external" } ], "gene_names_uniprotkb": "ZBBX", "gene_names_refseq": "ZBBX", "protein_names_uniprotkb": "Zinc finger B-box domain-containing protein 1", "protein_names_refseq": "zinc finger B-box domain-containing protein 1 isoform 2; zinc finger B-box domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79740)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;18452278;23301498;32502341;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": 1, "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": "A8MV69;B3KSC1;B5MDJ6;F2Z370;Q9H5T8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A8MT70-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q3ZCX4-1", "uniprot_id": [ { "id": "ZN568_HUMAN", "url": "https://www.uniprot.org/uniprot/Q3ZCX4", "type": "external" } ], "mass": 74369.0, "length": 644, "protein_name": "Zinc finger protein 568", "gene_name": "ZNF568", "organism": "Human", "refseq_name": "zinc finger protein 568 isoform 2", "refseq_ac": [ { "id": "NP_001191764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191764", "type": "external" } ], "gene_names_uniprotkb": "ZNF568", "gene_names_refseq": "PISA; ZFP568; ZNF568", "protein_names_uniprotkb": "Zinc finger protein 568", "protein_names_refseq": "p53 inhibitor of SCO2 activation; zinc finger protein 568 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:374900); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;20855565;2163759;23071813;28904123;29557506;31217245;38944084;8183939;8769649;9637681;9653119", "class_list": "", "function": "Has transcriptional repression activity, partially through the recruitment of the corepressor TRIM28 but also has repression activity independently of this interaction. Essential during embryonic development, where it acts as a direct repressor of a placental-specific transcript of IGF2 in early development and regulates convergent extension movements required for axis elongation and tissue morphogenesis in all germ layers. Also important for normal morphogenesis of extraembryonic tissues including the yolk sac, extraembryonic mesoderm and placenta. May enhance proliferation or maintenance of neural stem cells., [UniProtKB, UniProtKB]; Influence of the interaction between p53 and ZNF568 on mitochondrial oxidative phosphorylation., [RefSeq, PubMed]; M003-A06 is likely one of the genes contributing to the uniqueness of the human brain in comparison to other higher primates., [RefSeq, PubMed]; May be involved in transcriptional regulation., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DS92;E7ER33;Q6N060;Q8NA64", "ec_number_list": [], "go_molecular_function": "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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001701 in utero embryonic development;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": 2.1, "record_id": "Q3ZCX4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8N7-1", "uniprot_id": [ { "id": "ZN395_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8N7", "type": "external" } ], "mass": 54939.0, "length": 513, "protein_name": "Zinc finger protein 395", "gene_name": "ZNF395", "organism": "Human", "refseq_name": "zinc finger protein 395", "refseq_ac": [ { "id": "NP_061130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061130", "type": "external" } ], "gene_names_uniprotkb": "ZNF395; HDBP2; PBF", "gene_names_refseq": "HDBP-2; HDBP2; HDRF-2; PBF; PRF-1; PRF1; Si-1-8-14; ZNF395", "protein_names_uniprotkb": "Zinc finger protein 395; HD gene regulatory region-binding protein 2; HD-regulating factor 2; HDBP-2; HDRF-2; Huntington disease gene regulatory region-binding protein 2; PRF-1; Papillomavirus regulatory factor 1; Papillomavirus-binding factor", "protein_names_refseq": "HD gene regulatory region-binding protein 2; HD-regulating factor 2; Huntington's disease gene regulatory region-binding protein 2; huntington disease gene regulatory region-binding protein 2; papillomavirus regulatory factor 1; papillomavirus regulatory factor PRF-1; papillomavirus-binding factor; zinc finger protein 395", "tax_id": 9606, "disease": "", "pathway": " (hsa:55893)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;11853404;14625278;15289353;17531190;17897615;19690332;20068231;23186163;24275569;24599008;25892735;26992070;28218747;28228285;28316371;28699227;28832583;28893800;29242379;29393594;29437277;29493099;29557506;30375705;30767336;31222486;31844290;31853575;33717175;33794543;33968037;34087483;35051231;35580925;37879364", "class_list": "", "function": "Downregulation of ZNF395 Drives Progression of Pancreatic Ductal Adenocarcinoma through Enhancement of Growth Potential., [RefSeq, PubMed]; Epigenomic profiling of clear cell renal cell carcinoma (ccRCC) establishes a compendium of somatically altered cis-regulatory elements, uncovering new potential targets including ZNF395. Loss of VHL, a ccRCC signature event, causes pervasive enhancer malfunction, with binding of enhancer-centric HIF2a and recruitment of histone acetyltransferase p300 at preexisting lineage-specific promoter-enhancer complexes, [RefSeq, PubMed]; HDBP1 and HDBP2 are novel transcription factors shuttling between nucleus and cytoplasm and bind to the specific GCCGGCG, which is an essential cis-element for HD gene expression in neuronal cells, [RefSeq, PubMed]; MiR-525-3p promotes liver cancer cell migration and invasion by directly targeting ZNF395. Publication Status: Online-Only, [RefSeq, PubMed]; PBF binds to SAP30 and represses transcription via recruitment of the HDAC1 co-repressor complex, [RefSeq, PubMed]; PBF is a new cellular factor mediating the effects of PI3K/Akt signaling and 14-3-3 on cell growth, [RefSeq, PubMed]; PBF is an osteosarcoma-associated antigen recognized by autologous cytotoxic T-lymphocyte clone in the context of HLA-B*5502., [RefSeq, PubMed]; Plays a role in papillomavirus genes transcription., [UniProtKB]; The transcriptional activation of CXCL10 and CXCL11 by ZNF395 was abolished after inhibition of IKK by BMS-345541, which increased the stability of ZNF395. ZNF395 encodes at least two motifs that mediate the enhanced degradation of ZNF395 in response to IKK activation. Thus, IKK is required for ZNF395-mediated activation of transcription and enhances its turn-over to keep the activity of ZNF395 low., [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": 4, "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": "B3KUY7;D3DST4;Q6F6H2;Q9BY72;Q9NPB2;Q9NS57;Q9NS58;Q9NS59", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000987 cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "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": 3.7, "record_id": "Q9H8N7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14587-1", "uniprot_id": [ { "id": "ZN268_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14587", "type": "external" } ], "mass": 108374.0, "length": 947, "protein_name": "Zinc finger protein 268", "gene_name": "ZNF268", "organism": "Human", "refseq_name": "zinc finger protein 268 isoform h", "refseq_ac": [ { "id": "NP_001159359", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159359", "type": "external" } ], "gene_names_uniprotkb": "ZNF268", "gene_names_refseq": "HZF3; ZNF268", "protein_names_uniprotkb": "Zinc finger protein 268; Zinc finger protein HZF3", "protein_names_refseq": "zinc finger protein 268 isoform h; zinc finger protein 3; zinc finger protein HZF3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10795); (R-HSA-212436)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10235266;10330177;11237011;11311945;11395415;12200376;12822888;14519192;15175151;15547661;15896744;16606702;16719718;16735226;16787922;16865230;18375384;18677094;18774934;18949428;2163759;22235304;23091055;23481700;23665872;23946776;25880248;26992070;28832583;28904123;29242379;29557506;30315122;30429286;30833945;31835635;31844290;31848261;32157095;32357974;32938616;32983136;33592498;34171305;34932366;35051231;35580925;36010968;37926288;7865130;8183939;8769649;9637681;9653119", "class_list": "", "function": "4 alternative transcripts of ZNF268 were detected in the human blood cells., [RefSeq, PubMed]; Acts as a transcriptional repressor. Inhibits erythroid differentiation and tumor cell proliferation. Plays a role during ovarian cancer development and progression., [UniProtKB]; Contributes to cervical carcinogenesis in part through the TNF-induced NF-kappa-B signaling pathway by interacting with the I-kappa-B-kinase (IKK) core complex., [UniProtKB]; Involved in the regulation of antiviral interferon signaling. During viral infection, recruits SETD4 to TBK1, leading to TBK1 monomethylation, which is critical for the assembly of TBK1 complex and IRF3 signaling., [UniProtKB, PubMed]; KRAB-Zinc Finger Protein ZNF268a Deficiency Attenuates the Virus-Induced Pro-Inflammatory Response by Preventing IKK Complex Assembly. Publication Status: Online-Only, [RefSeq, PubMed]; The nuclear localization activity of KRAB domain is a conserved feature of ZNF268., [RefSeq, PubMed]; These results reveal a novel role of ZNF268b2 that contributes to cervical carcinogenesis in part through enhancing NF-kappaB signaling., [RefSeq, PubMed]; This protein has a conserved KRAB domain which localizes to the nucleus and has transcriptional repressor activity., [RefSeq, PubMed]; ZNF268 is a crucial downstream target and effector of GATA-1, [RefSeq, PubMed]; ZNF268 plays a role in early human liver development most likely by functioning through a cytoplasmic mechanism, [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": 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": "Q8TDG8;Q96RH4;Q9BZJ9", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0001934 positive regulation of protein phosphorylation;GO:0006351 DNA-templated transcription;GO:0008284 positive regulation of cell population proliferation;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q14587-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P243-1", "uniprot_id": [ { "id": "ZFAT_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P243", "type": "external" } ], "mass": 139034.0, "length": 1243, "protein_name": "Zinc finger protein ZFAT", "gene_name": "ZFAT", "organism": "Human", "refseq_name": "zinc finger protein ZFAT isoform 2", "refseq_ac": [ { "id": "NP_001025110", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025110", "type": "external" } ], "gene_names_uniprotkb": "ZFAT; KIAA1485; ZFAT1; ZNF406", "gene_names_refseq": "AITD3; ZFAT1; ZFAT; ZNF406", "protein_names_uniprotkb": "Zinc finger protein ZFAT; Zinc finger gene in AITD susceptibility region; Zinc finger protein 406", "protein_names_refseq": "zinc finger gene in autoimmune thyroid disease; zinc finger protein 406; zinc finger protein ZFAT isoform 2; zinc finger protein ZFAT; zinc-finger gene in AITD susceptibility region", "tax_id": 9606, "disease": "autoimmune thyroiditis (Disease Ontology:DOID:7188)", "pathway": " (hsa:57623)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "11237011;15294872;19162026;19847924;23481700;24714562;24715725;25801860;25892735;26154972;27600516;28228285;28446606;28832583;28940097;29242379;29288388;30315122;30379171;30524438;30779550;31154438;31222486;31270553;31366551;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;32997115;33141586;33298915;33592498;33717175;33968037;33981976;34087483;34171305;34185709;34405274;34547289;34932366;35051231;35580925;36010968;36162510;36581221;41350704", "class_list": "", "function": "CENP-B promotes the centromeric localization of ZFAT to control transcription of noncoding RNA., [RefSeq, PubMed]; Death domain-associated protein DAXX regulates noncoding RNA transcription at the centromere through the transcription regulator ZFAT., [RefSeq, PubMed]; Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women., [RefSeq, PubMed]; May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Polymorphism, Single Nucleotide in ZFAT is associated with autoimmune thyroid disease, [RefSeq, PubMed]; This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]., [RefSeq]; ZFAT binds to centromeres to control noncoding RNA transcription through the KAT2B-H4K8ac-BRD4 axis., [RefSeq, PubMed]; ZFAT protein is a critical regulator involved in apoptosis and cell survival for immune-related cells, [RefSeq, PubMed]; Zfat knockdown partially inhibited CD71(-/low)Ter119(-) to CD71(high)Ter119(-) transition of fetal liver erythroid progenitors with impairment in the elevation of CD71 expression. Zfat plays a critical role for erythropoiesis in the fetal liver, [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": 47, "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": "B7ZL15;E9PER3;Q3MIM5;Q6PJ01;Q75PJ6;Q75PJ7;Q75PJ9;Q86X64", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9P243-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NJL1-1", "uniprot_id": [ { "id": "ZSA5B_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NJL1", "type": "external" } ], "mass": 55826.0, "length": 495, "protein_name": "Zinc finger and SCAN domain-containing protein 5B", "gene_name": "ZSCAN5B", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 5B", "refseq_ac": [ { "id": "NP_001073925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073925", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN5B", "gene_names_refseq": "ZNF371; ZNF495B; ZSCAN5B", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 5B", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 5B", "tax_id": 9606, "disease": "", "pathway": " (hsa:342933)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;27732952;29557506;34541557;35051231", "class_list": "", "function": "Data implicate the role of ZSCAN5 genes in regulation of Pol III genes and nearby Pol II loci, ultimately influencing cell cycle progression and differentiation in a variety of tissues., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Using piggyBac transposon gene expression vectors to transfect Zscan5b gene into mouse pluripotent stem 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": 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": "", "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;GO:0032502 developmental process", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NJL1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QU8-1", "uniprot_id": [ { "id": "XPO6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QU8", "type": "external" } ], "mass": 128883.0, "length": 1125, "protein_name": "Exportin-6", "gene_name": "XPO6", "organism": "Human", "refseq_name": "exportin-6 isoform 1", "refseq_ac": [ { "id": "NP_001257869", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257869", "type": "external" } ], "gene_names_uniprotkb": "XPO6; KIAA0370; RANBP20", "gene_names_refseq": "EXP6; RANBP20; XPO6", "protein_names_uniprotkb": "Exportin-6; Exp6; Ran-binding protein 20", "protein_names_refseq": "exportin-6 isoform 1; ran-binding protein 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:23214)", "pathway_count": 1, "publication_count": 85, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14592989;15302935;17081983;17322306;18669648;18691976;19413330;19651622;19690332;20068231;21195711;22223895;23186163;24714562;24715725;26154972;26811146;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28591581;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29769354;30192525;30410026;30429286;30484775;30524438;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32817212;32897882;32938616;32983136;33141586;33298915;33537174;33592498;33596420;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;40914422", "class_list": "", "function": "Cancer-associated exportin-6 upregulation inhibits the transcriptionally repressive and anticancer effects of nuclear profilin-1., [RefSeq, PubMed]; Data suggest actin accumulation in senescent cells is due to the failure of RanGTP restoration with ATP deficiency and NTF2 accumulation, resulting in decreased actin export via Exp6 inactivation., [RefSeq, PubMed]; Identify exportin 6 (Exp6) as a novel family member from higher eukaryotes and show that it mediates nuclear export of profilin.actin complexes, [RefSeq, PubMed]; Mediates the nuclear export of actin and profilin-actin complexes in somatic cells., [UniProtKB, PubMed]; The XPO6 Exportin Mediates Herpes Simplex Virus 1 gM Nuclear Release Late in Infection. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the importin-beta family. Members of this family are regulated by the GTPase Ran to mediate transport of cargo across the nuclear envelope. This protein has been shown to mediate nuclear export of profilin-actin complexes. A pseudogene of this gene is located on the long arm of chromosome 14. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]., [RefSeq]; These results shed light on the crucial role of LN1 in quiescence and differentiation and how defects in the LN1/PI3K/XPO6/N-actin axis explain the loss of tissue homeostasis and growth control that contributes to malignant progression., [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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "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": "A1L3W4;D3DWF9;Q2YDX3;Q53G88;Q68G50;Q76N88;Q96CP8;Q9BT21", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0005049 nuclear export signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006611 protein export from nucleus", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q96QU8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9V3-1", "uniprot_id": [ { "id": "WSDU1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9V3", "type": "external" } ], "mass": 52833.0, "length": 476, "protein_name": "WD repeat, SAM and U-box domain-containing protein 1", "gene_name": "WDSUB1", "organism": "Human", "refseq_name": "WD repeat, SAM and U-box domain-containing protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001121684", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121684", "type": "external" } ], "gene_names_uniprotkb": "WDSUB1; WDSAM1", "gene_names_refseq": "UBOX6; WDSAM1; WDSUB1", "protein_names_uniprotkb": "WD repeat, SAM and U-box domain-containing protein 1", "protein_names_refseq": "WD repeat, SAM and U-box domain-containing protein 1 isoform 1; WD repeat, SAM and U-box domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:151525)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;18669648", "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": 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": "Q53TI9;Q8N6N8", "ec_number_list": [], "go_molecular_function": "GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N9V3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UII5-1", "uniprot_id": [ { "id": "ZN107_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UII5", "type": "external" } ], "mass": 90673.0, "length": 783, "protein_name": "Zinc finger protein 107", "gene_name": "ZNF107", "organism": "Human", "refseq_name": "zinc finger protein 107 isoform a", "refseq_ac": [ { "id": "NP_001013768", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013768", "type": "external" } ], "gene_names_uniprotkb": "ZNF107; ZFD25; ZNF588", "gene_names_refseq": "Y8; ZFD25; ZNF107; ZNF588; smap-7", "protein_names_uniprotkb": "Zinc finger protein 107; Zinc finger protein 588; Zinc finger protein ZFD25", "protein_names_refseq": "C2H2 type zinc-finger protein; zinc finger protein (ZFD25); zinc finger protein 107 isoform a; zinc finger protein 588", "tax_id": 9606, "disease": "", "pathway": " (hsa:51427)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10673043;11237011;25418920;25548167;26992070;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29493099;29632046;29786170;30429286;31154438;31217245;31844290;31998317;32157095;32357974;32387766;33717175;34185709;35561310;35580925;36010968", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein containing multiple C2H2-type zinc finger regions. Proteins containing zinc fingers may act as transcriptional regulators, but may also have other cellular functions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 20, "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:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "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", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9UII5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2L0-1", "uniprot_id": [ { "id": "WDR35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2L0", "type": "external" } ], "mass": 133547.0, "length": 1181, "protein_name": "WD repeat-containing protein 35", "gene_name": "WDR35", "organism": "Human", "refseq_name": "WD repeat-containing protein 35 isoform 1", "refseq_ac": [ { "id": "NP_001006658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006658", "type": "external" } ], "gene_names_uniprotkb": "WDR35; IFT121; KIAA1336", "gene_names_refseq": "CED2; CFAP118; FAP118; IFT121; IFTA1; SRTD7; WDR35", "protein_names_uniprotkb": "WD repeat-containing protein 35; Intraflagellar transport protein 121 homolog", "protein_names_refseq": "WD repeat-containing protein 35 isoform 1; WD repeat-containing protein 35; intraflagellar transport protein 121 homolog; naofen", "tax_id": 9606, "disease": "cranioectodermal dysplasia 2 (Disease Ontology:DOID:0080804); short-rib thoracic dysplasia 7 with or without polydactyly (Disease Ontology:DOID:0110090); Ellis-Van Creveld syndrome (Disease Ontology:DOID:12714); liver cirrhosis (Disease Ontology:DOID:5082)", "pathway": " (hsa:57539); (R-HSA-5610787); (R-HSA-5620924)", "pathway_count": 3, "publication_count": 202, "publication_id_list": "10.1101/2023.09.13.557529;10069812;10966113;11237011;11285270;11375483;12192414;12435627;12795688;14603322;15087129;15231740;15269286;15489852;15523559;15930098;15955805;16049494;16061793;16136078;16229832;16254602;16311594;16339192;16396903;16435301;16492809;16493421;16707575;16775004;16782012;17027958;17200122;17312020;17314406;17442700;17553904;17574030;17641202;17762891;17960137;18180368;18304522;18327258;18364699;18369462;18455992;18832070;18852297;19000668;19112494;19147001;19196978;19223390;19253336;19286674;19365551;19384852;19450523;19549984;19592253;19664994;19666503;19720863;19767740;19776033;19805633;19877275;19906846;19948480;19996169;20067783;20154143;20193664;20207148;20395968;20412786;20435895;20460306;20526327;20526328;20530210;20817137;20844016;20889716;20956384;2105456;21209331;21427764;21473986;21695114;21801010;21936775;22007132;22118932;22231273;22391300;22922713;22992454;23209152;23332756;23481700;23719536;23945166;23990561;24140113;24296415;24302888;24339784;24366607;24397554;24596149;24616010;24714562;24715725;24845016;24863049;24917297;24925320;24952464;25205765;25349261;25418920;25443296;25645385;25802875;25880248;25892735;26375851;26728094;26811146;26992070;27158779;27397612;27600516;27846572;27920218;27932497;28218747;28228285;28400947;28411811;28649982;28832583;28834231;28904123;29220510;29242379;29393594;29437277;29493099;29557506;29632046;29632711;29769354;29786170;30315122;30410026;30429286;30484775;30779550;30833945;31092671;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34185709;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36284347;36775821;37938771;8516294;8522608;9114011;9585416;9585417;9852153", "class_list": "", "function": "As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed:28400947, PubMed:29220510, PubMed:36775821). May promote CASP3 activation and TNF-stimulated apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; These results indicated that naofen may function as a novel modulator activating caspase-3, and promoting TNF-alpha-stimulated apoptosis., [RefSeq, PubMed]; This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]., [RefSeq]; Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that short-rib polydactyly mutations affect key structural elements in WDR35., [RefSeq, PubMed]; WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder., [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": 34, "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": "B3KVI5;Q4ZG01;Q8NE11", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005929 cilium;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0030991 intraciliary transport particle A", "go_biological_process": "GO:0060271 cilium assembly;GO:0042073 intraciliary transport;GO:0061512 protein localization to cilium;GO:0097499 protein localization to non-motile cilium;GO:0035721 intraciliary retrograde transport", "synthesized_glycan_count": 0, "hit_score": 20.7, "record_id": "Q9P2L0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21506-1", "uniprot_id": [ { "id": "ZNF10_HUMAN", "url": "https://www.uniprot.org/uniprot/P21506", "type": "external" } ], "mass": 66455.0, "length": 573, "protein_name": "Zinc finger protein 10", "gene_name": "ZNF10", "organism": "Human", "refseq_name": "zinc finger protein 10", "refseq_ac": [ { "id": "NP_056209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056209", "type": "external" } ], "gene_names_uniprotkb": "ZNF10; KOX1", "gene_names_refseq": "KOX1; ZNF10", "protein_names_uniprotkb": "Zinc finger protein 10; Zinc finger protein KOX1", "protein_names_refseq": "zinc finger protein 10 (KOX 1); zinc finger protein 10; zinc finger protein KOX1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7556); (R-HSA-212436)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;2288909;23665872;24498343;26096782;28228285;29242379;29557506;30379171;31844290;31848261;32157095;34561969;35051231;35162997;39894887;8183939;8769649;9637681;9653119", "class_list": "", "function": "Data indicate that Xenopus laevis XFIN-AB displayed reduced potency in repression compared to human ZNF10 KRAB-AB. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Results indicate that ZNF10 could be involved in a potent intrinsic antiretroviral defense, [RefSeq, PubMed]; The KRAB Domain of ZNF10 Guides the Identification of Specific Amino Acids That Transform the Ancestral KRAB-A-Related Domain Present in Human PRDM9 into a Canonical Modern KRAB-A Domain. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene contains a C2H2 zinc finger, and has been shown to function as a transcriptional repressor. The Kruppel-associated box (KRAB) domain of this protein is found to be responsible for its transcriptional repression activity. RING finger containing protein TIF1 was reported to interact with the KRAB domain, and may serve as a mediator for the repression activity of this 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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RBS1;Q8TC91", "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:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0032991 protein-containing 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": 3.2, "record_id": "P21506-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N0Y2-1", "uniprot_id": [ { "id": "ZN444_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N0Y2", "type": "external" } ], "mass": 35204.0, "length": 327, "protein_name": "Zinc finger protein 444", "gene_name": "ZNF444", "organism": "Human", "refseq_name": "zinc finger protein 444 isoform 2", "refseq_ac": [ { "id": "NP_001240721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240721", "type": "external" } ], "gene_names_uniprotkb": "ZNF444; EZF2; ZSCAN17", "gene_names_refseq": "EZF-2; EZF2; ZNF444; ZSCAN17", "protein_names_uniprotkb": "Zinc finger protein 444; EZF-2; Endothelial zinc finger protein 2; Zinc finger and SCAN domain-containing protein 17", "protein_names_refseq": "endothelial zinc finger protein 2; zinc finger and SCAN domain-containing protein 17; zinc finger protein 444 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55311)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;11978792;18669648;19760602;20068231;23186163;24275569;26992070;28218747;28228285;29437277;29493099;30315122;30410026;30429286;31844290;31848261;32488085;32897882;32983136;33633747;35051231;35580925", "class_list": "", "function": "Regulates the human gene encoding the scavenger receptor expressed by endothelial cells, [RefSeq, PubMed]; T(19;22)(q13;q12) Translocation leading to the novel fusion gene EWSR1-ZNF444 is associated with soft tissue myoepithelial carcinoma., [RefSeq, PubMed]; This gene encodes a zinc finger protein which activates transcription of a scavenger receptor gene involved in the degradation of acetylated low density lipoprotein (Ac-LDL) (PMID: 11978792). This gene is located in a cluster of zinc finger genes on chromosome 19 at q13.4. A pseudogene of this gene is located on chromosome 15. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]; Transcriptional regulator. Binds to the 5'-flanking critical region of the SCARF1 promoter., [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": 5, "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": "Q8TEQ9;Q8WU35;Q9NUU1", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8N0Y2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9K5-1", "uniprot_id": [ { "id": "ZN565_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9K5", "type": "external" } ], "mass": 62445.0, "length": 539, "protein_name": "Zinc finger protein 565", "gene_name": "ZNF565", "organism": "Human", "refseq_name": "zinc finger protein 565 isoform 1", "refseq_ac": [ { "id": "NP_001035939", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035939", "type": "external" } ], "gene_names_uniprotkb": "ZNF565", "gene_names_refseq": "ZNF565", "protein_names_uniprotkb": "Zinc finger protein 565", "protein_names_refseq": "zinc finger protein 565 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:147929); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;30379171;30784271;31844290;35051231;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": 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": "B3KQ35;Q6NUS2", "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_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": 2.2, "record_id": "Q8N9K5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8J6-1", "uniprot_id": [ { "id": "ZN615_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8J6", "type": "external" } ], "mass": 83739.0, "length": 731, "protein_name": "Zinc finger protein 615", "gene_name": "ZNF615", "organism": "Human", "refseq_name": "zinc finger protein 615 isoform 1", "refseq_ac": [ { "id": "NP_001186253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186253", "type": "external" } ], "gene_names_uniprotkb": "ZNF615", "gene_names_refseq": "ZNF615", "protein_names_uniprotkb": "Zinc finger protein 615", "protein_names_refseq": "zinc finger protein 615 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:284370); (R-HSA-212436)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25892735;29557506;30379171;31848261;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": "B7ZKW9;Q2M2Y6;Q5CZB0;Q6ZMT7;Q6ZRB3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding;GO:0043565 sequence-specific 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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q8N8J6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z739-1", "uniprot_id": [ { "id": "YTHD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z739", "type": "external" } ], "mass": 63861.0, "length": 585, "protein_name": "YTH domain-containing family protein 3", "gene_name": "YTHDF3", "organism": "Human", "refseq_name": "YTH domain-containing family protein 3 isoform b", "refseq_ac": [ { "id": "NP_001264742", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264742", "type": "external" } ], "gene_names_uniprotkb": "YTHDF3", "gene_names_refseq": "DF3; YTHDF3", "protein_names_uniprotkb": "YTH domain-containing family protein 3; DF3", "protein_names_refseq": "YTH N(6)-methyladenosine RNA binding protein 3; YTH N6-methyladenosine RNA binding protein 3; YTH domain family protein 3; YTH domain family, member 3; YTH domain-containing family protein 3 isoform b; YTH domain-containing family protein 3", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667)", "pathway": " (hsa:253943)", "pathway_count": 1, "publication_count": 107, "publication_id_list": "10.1101/2023.09.13.557529;11237011;18160138;18669648;20068230;20068231;20305658;20463905;22575960;22661428;23481700;24284625;24715725;25469497;25576301;25645385;25880248;26458103;26811146;26992070;27114449;27600516;27846572;27920218;28063628;28106072;28106076;28281539;28649982;28657654;28832583;28904123;29237092;29242379;29249144;29331515;29351928;29393594;29493099;29508533;29557506;29632046;29741879;29786170;30059200;30315122;30379171;30429286;30620550;30779550;31154438;31217245;31222486;31292544;31373491;31388144;31492838;31844290;31848261;32053707;32119511;32157095;32194978;32357974;32387766;32451507;32488085;32492408;32574038;32897882;32938616;32983136;33073985;33123756;33214551;33298915;33392160;33968037;33981976;34019948;34846842;35051231;35132862;35138101;35254053;35289036;35513511;35580925;35705054;36240223;36241641;36284347;37074911;37541260;37938771;37945829;38250152;38665916;38821916;38838015;39054719;39143673;39302247;39531497;39534244;40307207;40596516", "class_list": "", "function": "Has some antiviral activity against HIV-1 virus: incorporated into HIV-1 particles in a nucleocapsid-dependent manner and reduces viral infectivity in the next cycle of infection (PubMed:32053707). May interfere with this early step of the viral life cycle by binding to N6-methyladenosine (m6A) modified sites on the HIV-1 RNA genome (PubMed:32053707)., [UniProtKB, PubMed]; Includes a multi-species analysis of YTHDF family members. Publication Status: Online-Only, [RefSeq, PubMed]; Knockdown of YAP1 Reduces YTHDF3 to Stabilize SMAD7 and thus Inhibit Bladder Cancer Stem Cell Stemness., [RefSeq, PubMed]; Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, and regulates mRNA stability. M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, and regulates their stability (PubMed:28106072, PubMed:28106076, PubMed:28281539, PubMed:32492408). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing (PubMed:22575960, PubMed:24284625, PubMed:28106072, PubMed:28281539, PubMed:32492408). Acts as a regulator of mRNA stability by promoting degradation of m6A-containing mRNAs via interaction with the CCR4-NOT complex or PAN3 (PubMed:32492408). The YTHDF paralogs (YTHDF1, YTHDF2 and YTHDF3) share m6A-containing mRNAs targets and act redundantly to mediate mRNA degradation and cellular differentiation (PubMed:28106072, PubMed:28106076, PubMed:32492408). Acts as a negative regulator of type I interferon response by down-regulating interferon-stimulated genes (ISGs) expression: acts by binding to FOXO3 mRNAs (By similarity). Binds to FOXO3 mRNAs independently of METTL3-mediated m6A modification (By similarity). Can also act as a regulator of mRNA stability in cooperation with YTHDF2 by binding to m6A-containing mRNA and promoting their degradation (PubMed:28106072). Recognizes and binds m6A-containing circular RNAs (circRNAs); circRNAs are generated through back-splicing of pre-mRNAs, a non-canonical splicing process promoted by dsRNA structures across circularizing exons (PubMed:28281539). Promotes formation of phase-separated membraneless compartments, such as P-bodies or stress granules, by undergoing liquid-liquid phase separation upon binding to mRNAs containing multiple m6A-modified residues: polymethylated mRNAs act as a multivalent scaffold for the binding of YTHDF proteins, juxtaposing their disordered regions and thereby leading to phase separation (PubMed:31292544, PubMed:31388144, PubMed:32451507). The resulting mRNA-YTHDF complexes then partition into different endogenous phase-separated membraneless compartments, such as P-bodies, stress granules or neuronal RNA granules (PubMed:31292544). May also recognize and bind N1-methyladenosine (m1A)-containing mRNAs: inhibits trophoblast invasion by binding to m1A-methylated transcripts of IGF1R, promoting their degradation (PubMed:32194978)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The inhibition of YTHDF3/m[6]A/LRP6 reprograms fatty acid metabolism and suppresses lymph node metastasis in cervical cancer. Erratum:[Int J Biol Sci. 2025 Jun 5;21(8):3825-3826. doi: 10.7150/ijbs.115928. PMID: 40520018] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the YTH (YT521-B homology) domain protein family. The YTH domain is common in eukaryotes, is often found in the middle of the protein sequence, and may function in binding to RNA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]., [RefSeq]; YTHDF3 Regulates the Degradation and Stability of m6A-Enriched Transcripts to Facilitate the Progression of Castration-Resistant Prostate Cancer., [RefSeq, PubMed]; ZDHHC20-mediated S-palmitoylation of YTHDF3 stabilizes MYC mRNA to promote pancreatic 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": 2, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 18, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 18, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 1, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "B3KXL4;Q63Z37;Q659A3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0043022 ribosome binding;GO:1990247 N6-methyladenosine-containing RNA reader activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0043488 regulation of mRNA stability;GO:0045727 positive regulation of translation;GO:0034063 stress granule assembly;GO:0061157 mRNA destabilization;GO:0070925 organelle assembly", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q7Z739-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YE8-1", "uniprot_id": [ { "id": "ZN573_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YE8", "type": "external" } ], "mass": 78181.0, "length": 665, "protein_name": "Zinc finger protein 573", "gene_name": "ZNF573", "organism": "Human", "refseq_name": "zinc finger protein 573 isoform 2", "refseq_ac": [ { "id": "NP_001166160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166160", "type": "external" } ], "gene_names_uniprotkb": "ZNF573", "gene_names_refseq": "ZNF573", "protein_names_uniprotkb": "Zinc finger protein 573", "protein_names_refseq": "zinc finger protein 573 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:126231); (R-HSA-212436)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;22898188;25576301;25645385;26375851;26992070;27600516;27862975;28832583;29242379;29493099;29508533;29557506;29632711;30379171;30429286;30524438;31154438;31222486;31844290;31848261;32157095;32357974;32387766;32502341;32983136;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7WPE1;K7EJ45;Q6P1P1;Q7Z7Q3;Q8N2Q1;Q96BM3;Q96NH0", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q86YE8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UM01-1", "uniprot_id": [ { "id": "YLAT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UM01", "type": "external" } ], "mass": 55991.0, "length": 511, "protein_name": "Y+L amino acid transporter 1", "gene_name": "SLC7A7", "organism": "Human", "refseq_name": "Y+L amino acid transporter 1", "refseq_ac": [ { "id": "NP_001119577", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119577", "type": "external" } ], "gene_names_uniprotkb": "SLC7A7", "gene_names_refseq": "LAT3; LPI; MOP-2; SLC7A7; Y+LAT1; y+LAT-1", "protein_names_uniprotkb": "Y+L amino acid transporter 1; MOP-2; Monocyte amino acid permease 2; Solute carrier family 7 member 7; Y+LAT1; y(+)L-type amino acid transporter 1; y+LAT-1", "protein_names_refseq": "Y+L amino acid transporter 1; lysinuric protein intolerance (dibasicaminoaciduria II); monocyte amino acid permease 2; solute carrier family 7 (amino acid transporter light chain, y+L system), member 7; solute carrier family 7 (cationic amino acid transporter, y+ system), member 7; y(+)L-type amino acid transporter 1", "tax_id": 9606, "disease": "lysinuric protein intolerance (Disease Ontology:DOID:0060439)", "pathway": " (hsa:9056); (R-HSA-210991); (R-HSA-352230); (R-HSA-5660862)", "pathway_count": 4, "publication_count": 88, "publication_id_list": "10080182;10080183;10358010;10391915;10485994;10631139;10655553;10698697;10737982;10823827;10863037;10880960;10891391;10903140;10921872;10930503;11078698;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11719518;11742806;11827462;11943775;12202949;12402335;12527723;12558975;12809675;12930836;14603368;14707126;15151999;15280038;15659399;15756301;15776427;15901826;15918515;15946952;16260747;16959974;17197568;17329401;17764084;17996943;18195088;21097500;23481700;23940088;24652292;25418920;26375851;27862975;28904123;29393594;29557506;29769354;31014432;31154438;31705628;32502341;32504080;32983136;33298915;33436954;33912179;34357683;34433824;34509645;35051231;35154160;35580925;36010968;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9360995;9829974;9878049", "class_list": "", "function": "A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance., [RefSeq, PubMed]; Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids from inside the cells in exchange with neutral amino acids plus sodium ions and may participate in nitric oxide synthesis via the transport of L-arginine (PubMed:10080182, PubMed:10655553, PubMed:14603368, PubMed:15756301, PubMed:15776427, PubMed:17329401, PubMed:9829974, PubMed:9878049). Also mediates arginine transport in non-polarized cells, such as monocytes, and is essential for the correct function of these cells (PubMed:15280038, PubMed:31705628). The transport mechanism is electroneutral and operates with a stoichiometry of 1:1 (By similarity). In vitro, Na(+) and Li(+), but also H(+), are cotransported with the neutral amino acids (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; L-type amino acid transporter 1 is associated with chemoresistance in breast cancer via the promotion of amino acid metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; SLC7A7 gene detection showed three pathogenic mutations in these children, namely c.1387delG(p.V463CfsX56), c.1215G>A(p.W405X) and homozygous c.625+1G>A, [RefSeq, PubMed]; The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]., [RefSeq]; Y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "B2RAU0;D3DS26;O95984;Q53XC1;Q86U07;Q9P2V5", "ec_number_list": [], "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0015174 basic amino acid transmembrane transporter activity;GO:0061459 L-arginine transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0015820 L-leucine transport;GO:0003333 amino acid transmembrane transport;GO:1903826 L-arginine transmembrane transport;GO:1990822 basic amino acid transmembrane transport;GO:0089718 amino acid import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9UM01-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQX6-1", "uniprot_id": [ { "id": "ZN331_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQX6", "type": "external" } ], "mass": 53739.0, "length": 463, "protein_name": "Zinc finger protein 331", "gene_name": "ZNF331", "organism": "Human", "refseq_name": "zinc finger protein 331", "refseq_ac": [ { "id": "NP_001073375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073375", "type": "external" } ], "gene_names_uniprotkb": "ZNF331; RITA; ZNF361; ZNF463", "gene_names_refseq": "RITA; ZNF331; ZNF361; ZNF463", "protein_names_uniprotkb": "Zinc finger protein 331; C2H2-like zinc finger protein rearranged in thyroid adenomas; Zinc finger protein 361; Zinc finger protein 463", "protein_names_refseq": "C2H2-like zinc finger protein rearranged in thyroid adenomas; KRAB zinc finger protein; zinc finger protein 331; zinc finger protein 361; zinc finger protein 463", "tax_id": 9606, "disease": "", "pathway": " (hsa:55422); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10235266;10330177;10502321;11237011;11267678;11395415;11959841;12869583;14519192;14536086;14610350;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;2163759;25218447;25274305;26813693;26992070;28218747;28273063;28832583;29242379;29437277;29493099;29854011;30429286;31289231;31427381;31844290;31848261;32157095;33992091;35580925;36010968;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "Association of ZNF331 and WIF1 methylation in peripheral blood leukocytes with the risk and prognosis of gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation. May play a role in spermatogenesis., [UniProtKB]; Study have showed the potential of promoter methylation of ZNF331 as a biomarker for colorectal cancer detection. Further data provide evidence indicating a trend towards poorer prognosis for patients with ZNF331 methylation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. This gene may be methylated and silenced in cancer cells. This gene is located within a differentially methylated region (DMR) and shows allele-specific expression in placenta. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding the same protein. [provided by RefSeq, Nov 2015]., [RefSeq]; Unique expression of a 3.4-kbp transcript of ZNF331 is described in thyroid adenoma cell lines with 19q13 aberrations., [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": 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": "Q96GJ4", "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_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": 4.7, "record_id": "Q9NQX6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF32-1", "uniprot_id": [ { "id": "ZN431_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF32", "type": "external" } ], "mass": 67217.0, "length": 576, "protein_name": "Zinc finger protein 431", "gene_name": "ZNF431", "organism": "Human", "refseq_name": "zinc finger protein 431 isoform 1", "refseq_ac": [ { "id": "NP_001306053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306053", "type": "external" } ], "gene_names_uniprotkb": "ZNF431; KIAA1969", "gene_names_refseq": "ZFP932; ZNF431", "protein_names_uniprotkb": "Zinc finger protein 431", "protein_names_refseq": "zinc finger protein 431 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:170959); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;28832583;28904123;29493099;30315122;31844290;32350084;32387766;33691108;33912179;33981976;35251023;8183939;8769649;9637681;9653119", "class_list": "", "function": "Sequence-specific DNA binding transcriptional repressor. Represses target gene transcription by recruiting HDAC1 and HDAC2 histone deacetylases. Acts as a specific transcriptional repressor for PTCH1 during embryonic development. Required for osteoblast differentiation and sonic hedgehog/SHH signaling response. Binds to the consensus site 5'-GCGCCC-3' in the promoter of PTCH1 (By similarity)., [UniProtKB]; This gene encodes a member of the Krueppel C2H2-type zinc-finger family of proteins. The encoded protein may negatively regulate transcription of target genes, including the hedgehog signaling pathway receptor patched 1, by interacting with histone deacetylases. Mutations in this gene may be associated with non-syndromic facial clefting in human patients. [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": 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": "A8KAK7;Q8IWC4", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin 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:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8TF32-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TA94-1", "uniprot_id": [ { "id": "ZN563_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TA94", "type": "external" } ], "mass": 55434.0, "length": 476, "protein_name": "Zinc finger protein 563", "gene_name": "ZNF563", "organism": "Human", "refseq_name": "zinc finger protein 563 isoform 1", "refseq_ac": [ { "id": "NP_660319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660319", "type": "external" } ], "gene_names_uniprotkb": "ZNF563", "gene_names_refseq": "ZNF563", "protein_names_uniprotkb": "Zinc finger protein 563", "protein_names_refseq": "zinc finger protein 563 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:147837); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;29493099;31844290;32157095;32938616;32983136;33968037;34509645;35051231;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": 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": "B2R9E7;Q8NAT7", "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_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": 2.3, "record_id": "Q8TA94-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LW9-1", "uniprot_id": [ { "id": "ZSC31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LW9", "type": "external" } ], "mass": 47293.0, "length": 406, "protein_name": "Zinc finger and SCAN domain-containing protein 31", "gene_name": "ZSCAN31", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 31 isoform 1", "refseq_ac": [ { "id": "NP_001128687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128687", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN31; ZNF310P; ZNF323", "gene_names_refseq": "ZNF20-Lp; ZNF310P; ZNF323; ZSCAN31", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 31; Zinc finger protein 323", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 31 isoform 1; zinc finger and SCAN domain-containing protein 31; zinc finger protein 323", "tax_id": 9606, "disease": "", "pathway": " (hsa:64288)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12147252;25218447;25755297;25759474;25772364;28722770;32502341;32938616;33392160;33522098", "class_list": "", "function": "Functional variants fine-mapping and gene function characterization provide insights into the role of ZNF323 in schizophrenia pathogenesis., [RefSeq, PubMed]; May function as a transcription factor. May be involved in the development of multiple embryonic organs., [UniProtKB]; Role in early human embryonic development, [RefSeq, PubMed]; This gene encodes a protein containing multiple C2H2-type zinc finger motifs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; ZNF323 is a schizophrenia susceptibility gene whose expression may influence schizophrenia risk., [RefSeq, PubMed]; ZSCAN31 hypermethylation is associated with 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": 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": "Q6P178;Q8WWS5", "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:1990837 sequence-specific double-stranded DNA binding;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", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q96LW9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV35-1", "uniprot_id": [ { "id": "CF337_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV35", "type": "external" } ], "mass": 119003.0, "length": 1049, "protein_name": "Cilia- and flagella-associated protein 337", "gene_name": "CFAP337; WDR49", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "CFAP337; WDR49; WDR49", "gene_names_refseq": "", "protein_names_uniprotkb": "Cilia- and flagella-associated protein 337; WD repeat-containing protein 49", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:151790)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;16959974;39894887", "class_list": "", "function": "Associates with components of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility, and might act as an inner dynein arm (IDA) hub or linkage., [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": 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": "A0A804HJG6;Q8N297", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005929 cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IV35-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q658N2-1", "uniprot_id": [ { "id": "WSCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q658N2", "type": "external" } ], "mass": 65694.0, "length": 575, "protein_name": "Sialate:O-sulfotransferase 1", "gene_name": "WSCD1", "organism": "Human", "refseq_name": "sialate:O-sulfotransferase 1 isoform 1", "refseq_ac": [ { "id": "NP_056068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056068", "type": "external" } ], "gene_names_uniprotkb": "WSCD1; KIAA0523", "gene_names_refseq": "WSCD1", "protein_names_uniprotkb": "Sialate:O-sulfotransferase 1; WSC domain-containing protein 1", "protein_names_refseq": "WSC domain containing 1; WSC domain-containing protein 1; sialate:O-sulfotransferase 1 isoform 1; sialate:O-sulfotransferase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23302)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "10.1101/2023.09.13.557529;11237011;29557506;37217939", "class_list": "", "function": "Sialate:O-sulfotransferase which catalyzes 8-O-sulfation at the Sia-glycan level using 3'-phosphoadenosine 5'-phosphosulfate (PAPS) as a donor, forming 8-O-sulfated Sia (Sia8S)-glycans. Displays selectivity toward glycolipids such as GM1 gangliosides., [UniProtKB, UniProtKB]", "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": 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": 32, "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": "A8K0N8;D3DTM3;O60276;Q96G45", "ec_number_list": [], "go_molecular_function": "GO:0008146 sulfotransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q658N2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17010-1", "uniprot_id": [ { "id": "ZFX_HUMAN", "url": "https://www.uniprot.org/uniprot/P17010", "type": "external" } ], "mass": 90522.0, "length": 805, "protein_name": "Zinc finger X-chromosomal protein", "gene_name": "ZFX", "organism": "Human", "refseq_name": "zinc finger X-chromosomal protein isoform 1", "refseq_ac": [ { "id": "NP_001171555", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171555", "type": "external" } ], "gene_names_uniprotkb": "ZFX", "gene_names_refseq": "MRXS37; ZFX; ZNF926", "protein_names_uniprotkb": "Zinc finger X-chromosomal protein", "protein_names_refseq": "X-linked zinc finger protein; zinc finger X-chromosomal protein isoform 1; zinc finger X-chromosomal protein", "tax_id": 9606, "disease": "syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309); intellectual developmental disorder, X-linked, syndromic 37 (MONDO:MONDO:0958322)", "pathway": " (hsa:7543)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;15302935;18669648;20068231;2041734;2308929;24397554;24714562;24715725;2500252;2512506;25576301;26154972;26811146;26992070;27920218;28228285;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29632711;29786170;29789417;30315122;30379171;30429286;30620550;31154438;31217245;31432109;31530632;31844290;31848261;31998317;32157095;32161166;32350084;32406922;32488085;33298915;33632059;34324278;34932366;35580925;36241641;38325380;40596516", "class_list": "", "function": "Characterization of the ZFX family of transcription factors that bind downstream of the start site of CpG island promoters., [RefSeq, PubMed]; Circ_0000520 contributes to triple-negative breast cancer progression through mediating the miR-1296/ZFX axis., [RefSeq, PubMed]; Homoharringtonine may enhance the effect of imatinib on chronic myelogenous leukemia cells by downregulating ZFX., [RefSeq, PubMed]; Probable transcriptional activator., [UniProtKB, PubMed, PubMed]; This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]., [RefSeq]; Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt., [RefSeq, PubMed]; Zfx-induced upregulation of UBE2J1 facilitates endometrial cancer progression via PI3K/AKT 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "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": "B9EG97;O43668;Q8WYJ8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0003677 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:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "P17010-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3S1-1", "uniprot_id": [ { "id": "WNK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3S1", "type": "external" } ], "mass": 242676.0, "length": 2297, "protein_name": "Serine/threonine-protein kinase WNK2", "gene_name": "WNK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase WNK2 isoform 1", "refseq_ac": [ { "id": "NP_001269323", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269323", "type": "external" } ], "gene_names_uniprotkb": "WNK2; KIAA1760; OKcl.13; PRKWNK2; SDCCAG43", "gene_names_refseq": "NY-CO-43; P/OKcl.13; PRKWNK2; SDCCAG43; WNK2", "protein_names_uniprotkb": "Serine/threonine-protein kinase WNK2; 2.7.11.1; Antigen NY-CO-43; Protein kinase lysine-deficient 2; Protein kinase with no lysine 2; Serologically defined colon cancer antigen 43", "protein_names_refseq": "antigen NY-CO-43; mitogen-activated protein kinase kinase kinase; protein kinase lysine-deficient 2; protein kinase with no lysine 2; serine/threonine-protein kinase WNK2 isoform 1; serine/threonine-protein kinase WNK2; serologically defined colon cancer antigen 43", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224); pseudohypoaldosteronism (Disease Ontology:DOID:4479)", "pathway": " (hsa:65268); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10564087;10642508;10720933;10767424;10830164;10831588;11182090;11237011;11280764;11571656;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12907679;1379744;14584882;14634667;15010458;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16813530;16849430;16850186;17081983;17381423;17448995;17667937;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18593598;18662336;18669648;18724360;19153159;19307298;19380724;19387438;19413330;19620632;19664994;19690332;19808995;19953639;20128819;20305658;20388639;20466723;20525693;20538786;21040849;21527911;21733846;21740066;21932426;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23481700;23616951;24992895;2536303;25576301;25645385;26212219;26359375;26562072;26992070;27549314;28071645;28154142;28188670;28467828;28657654;28790369;28904123;29242379;29331515;29557506;29605689;29786170;29789417;30397120;30620550;30779550;31154438;31848261;31937595;32157095;32236612;32357974;32387766;32574038;32938750;33141586;33691108;33968037;33981976;34087483;34171305;34509645;34561969;35051231;35254053;35318648;35513511;35580925;35849656;36010968;36241641;36270769;38091885;38253038;39453672;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Germline mutations in WNK2 could be associated with serrated polyposis syndrome., [RefSeq, PubMed]; PAX6-WNK2 Axis Governs Corneal Epithelial Homeostasis., [RefSeq, PubMed]; Regional bias of tumor suppressor gene mutations of STARD8 and WNK2 in colon cancers., [RefSeq, PubMed]; Serine/threonine-protein kinase component of the WNK2-SPAK/OSR1 kinase cascade, which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation (PubMed:17667937, PubMed:18593598, PubMed:21733846). The WNK2-SPAK/OSR1 kinase cascade is composed of WNK2, which mediates phosphorylation and activation of downstream kinases OXSR1/OSR1 and STK39/SPAK (By similarity). Following activation, OXSR1/OSR1 and STK39/SPAK catalyze phosphorylation of ion cotransporters, regulating their activity (By similarity). Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively (PubMed:21733846). Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5 (PubMed:21733846). Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression (PubMed:17667937, PubMed:18593598). Affects MAPK3/MAPK1 activity by modulating the activity of MAP2K1 and this modulation depends on phosphorylation of MAP2K1 by PAK1 (PubMed:17667937, PubMed:18593598). WNK2 acts by interfering with the activity of PAK1 by controlling the balance of the activity of upstream regulators of PAK1 activity, RHOA and RAC1, which display reciprocal activity (PubMed:17667937, PubMed:18593598)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostasis, cell signaling survival, and proliferation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; WNK Inhibition Increases Surface Liquid pH and Host Defense in Cystic Fibrosis Airway Epithelia., [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": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "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": "Q5VWF1;Q5VWF2;Q8IY36;Q9C0A3;Q9H3P4", "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:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0008285 negative regulation of cell population proliferation;GO:0035556 intracellular signal transduction;GO:0006974 DNA damage response;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 15.7, "record_id": "Q9Y3S1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P21754-1", "uniprot_id": [ { "id": "ZP3_HUMAN", "url": "https://www.uniprot.org/uniprot/P21754", "type": "external" } ], "mass": 47018.0, "length": 424, "protein_name": "Zona pellucida sperm-binding protein 3", "gene_name": "ZP3", "organism": "Human", "refseq_name": "zona pellucida sperm-binding protein 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001103824", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103824", "type": "external" } ], "gene_names_uniprotkb": "ZP3; ZP3A; ZP3B; ZPC", "gene_names_refseq": "OOMD3; OZEMA3; ZP3A; ZP3B; ZP3; ZPC; Zp-3", "protein_names_uniprotkb": "Zona pellucida sperm-binding protein 3; Sperm receptor; ZP3A/ZP3B; Zona pellucida glycoprotein 3; Zona pellucida protein C; Zp-3", "protein_names_refseq": "ZP3A/ZP3B; sperm receptor; zona pellucida glycoprotein 3B; zona pellucida glycoprotein ZP3; zona pellucida protein C; zona pellucida sperm-binding protein 3 isoform 1 precursor; zona pellucida sperm-binding protein 3", "tax_id": 9606, "disease": "oocyte maturation defect 3 (MONDO:MONDO:0021574)", "pathway": " (hsa:7784); (R-HSA-2534343)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;10099990;10321806;11237011;14673092;1478648;15379548;16401092;20364096;22162720;2385582;26992070;28834231;28886344;29242379;29508533;29895852;30192525;30779550;32488085;32938616;33298915;33968037;33981976;34087483;34405274;34736966;34816529;35318648;35366744;35580925;36241641;36335766;36931917;8195297;9047023;9764365", "class_list": "", "function": "A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome., [RefSeq, PubMed]; Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP3 is essential for sperm binding and zona matrix formation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel expression of zona pellucida 3 protein in normal testis; potential functional implications., [RefSeq, PubMed]; Novel mutations in TUBB8 and ZP3 cause human oocyte maturation arrest and female infertility., [RefSeq, PubMed]; Novel mutations in ZP2 and ZP3 cause female infertility in three patients., [RefSeq, PubMed]; Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida., [RefSeq, PubMed]; The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene is a structural component of the zona pellucida and functions in primary binding and induction of the sperm acrosome reaction. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a C-terminal consensus furin cleavage site, and a transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. A variation in the last exon of this gene has previously served as the basis for an additional ZP3 locus; however, sequence and literature review reveals that there is only one full-length ZP3 locus in the human genome. Another locus encoding a bipartite transcript designated POMZP3 contains a duplication of the last four exons of ZP3, including the above described variation, and maps closely to this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 0, "predicted_o_glycosites": 4, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 4, "mined_n_glycosites": 3, "mined_o_glycosites": 1, "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": 1, "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": 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": 15, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 30, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q06633;Q29RW0", "ec_number_list": [], "go_molecular_function": "GO:0035804 structural constituent of egg coat;GO:0032190 acrosin binding;GO:0042802 identical protein binding;GO:0030246 carbohydrate binding;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0035805 egg coat", "go_biological_process": "GO:2000344 positive regulation of acrosome reaction;GO:2000386 positive regulation of ovarian follicle development;GO:0035803 egg coat formation;GO:0007339 binding of sperm to zona pellucida;GO:0002455 humoral immune response mediated by circulating immunoglobulin", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P21754-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100110001000.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43149-1", "uniprot_id": [ { "id": "ZZEF1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43149", "type": "external" } ], "mass": 331075.0, "length": 2961, "protein_name": "Zinc finger ZZ-type and EF-hand domain-containing protein 1", "gene_name": "ZZEF1", "organism": "Human", "refseq_name": "zinc finger ZZ-type and EF-hand domain-containing protein 1", "refseq_ac": [ { "id": "NP_055928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055928", "type": "external" } ], "gene_names_uniprotkb": "ZZEF1; KIAA0399", "gene_names_refseq": "ZZEF1; ZZZ4", "protein_names_uniprotkb": "Zinc finger ZZ-type and EF-hand domain-containing protein 1", "protein_names_refseq": "zinc finger ZZ-type and EF-hand domain-containing protein 1; zinc finger, ZZ-type with EF hand domain 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23140)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "11237011;15519529;16964243;18669648;19413330;19608861;19651622;19690332;20068231;20213681;23186163;23481700;23783831;24223779;24275569;24715725;25645385;25880248;26154972;26375851;26768311;26992070;27862975;27920218;28228285;28832583;28834231;29242379;29351928;29393594;29493099;29557506;29632711;29789417;30192525;30315122;30379171;30410026;30429286;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33227311;33298915;33592498;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34561969;35051231;35580925;35661819;36010968;36241641;37938771;40307207", "class_list": "", "function": "Histone H3 reader which may act as a transcriptional coactivator for KLF6 and KLF9 transcription factors., [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": 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": 15, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 59, "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": "A7MBM5;Q6NXG0;Q6ZRA1;Q6ZSF4;Q9NVB9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0042393 histone binding", "go_cellular_component": "", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O43149-1", "record_type": "protein", "filter_code": "0000000.1100101.001000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N782-1", "uniprot_id": [ { "id": "ZN525_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N782", "type": "external" } ], "mass": 56029.0, "length": 479, "protein_name": "Zinc finger protein 525", "gene_name": "ZNF525", "organism": "Human", "refseq_name": "zinc finger protein 525 isoform 1", "refseq_ac": [ { "id": "NP_001335085", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335085", "type": "external" } ], "gene_names_uniprotkb": "ZNF525; KIAA1979", "gene_names_refseq": "ZNF525", "protein_names_uniprotkb": "Zinc finger protein 525", "protein_names_refseq": "zinc finger protein 525 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:170958)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;25892735;30833945;31154438", "class_list": "", "function": "May be involved in transcriptional regulation., [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": "J3KR51;Q8TF23", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8N782-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8U3-1", "uniprot_id": [ { "id": "ZFAN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8U3", "type": "external" } ], "mass": 25184.0, "length": 227, "protein_name": "AN1-type zinc finger protein 3", "gene_name": "ZFAND3", "organism": "Human", "refseq_name": "AN1-type zinc finger protein 3 isoform 1", "refseq_ac": [ { "id": "NP_068762", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068762", "type": "external" } ], "gene_names_uniprotkb": "ZFAND3; TEX27", "gene_names_refseq": "TEX27; ZFAND3", "protein_names_uniprotkb": "AN1-type zinc finger protein 3; Testis-expressed protein 27", "protein_names_refseq": "AN1-type zinc finger protein 3 isoform 1; AN1-type zinc finger protein 3; testis expressed sequence 27; testis-expressed protein 27; zinc finger, AN1-type domain 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:60685)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;19664994;24366607;24715725;27862917;27869121;28580277;28832583;29242379;29557506;31844290;32157095;32938616;33311477;35051231;37217939", "class_list": "", "function": "AN1-type zinc finger protein 3 (ZFAND3) is a transcriptional regulator that drives Glioblastoma invasion. Publication Status: Online-Only, [RefSeq, PubMed]; Replication of lead type 2 diabetes mellitus SNPs in GLIS3, KCNK16, and ZFAND3 was observed in American Indians. Sex-specific T2DM signals in GLIS3 and ZFAND3, which are distinct from the East Asian GWAS signals, were also identified., [RefSeq, PubMed]; ZFAND3 was identified as a type 2 diabetes susceptibility gene. ZFAND3 plays a role in insulin secretion in vitro. 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": 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": "Q5SZZ0;Q5SZZ1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q9H8U3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61236-1", "uniprot_id": [ { "id": "YPEL3_HUMAN", "url": "https://www.uniprot.org/uniprot/P61236", "type": "external" } ], "mass": 13608.0, "length": 119, "protein_name": "Protein yippee-like 3", "gene_name": "YPEL3", "organism": "Human", "refseq_name": "protein yippee-like 3 isoform 2", "refseq_ac": [ { "id": "NP_001138996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138996", "type": "external" } ], "gene_names_uniprotkb": "YPEL3; FKSG5; YPEL", "gene_names_refseq": "YPEL3", "protein_names_uniprotkb": "Protein yippee-like 3", "protein_names_refseq": "protein yippee-like 3 isoform 2; protein yippee-like 3", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:83719)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;15556292;20388804;20508983;21196260;21267786;24715725;25645385;26375851;26992070;27400785;28832583;29242379;29393594;29786170;29988027;30429286;31154438;31844290;31848261;32157095;32357974;32502341;32544203;33298915;33912179;34185709;34675221;35580925;36010968;36284347;37938771", "class_list": "", "function": "Data show that YPEL3 is downregulated in nasopharyngeal carcinoma (NPC) cell lines and tissue samples and it suppresses NPC EMT and metastasis by suppressing the Wnt/beta-catenin signaling pathway. Erratum:[J Exp Clin Cancer Res. 2020 Oct 12;39(1):214. doi: 10.1186/s13046-020-01710-y. PMID: 33046124] Publication Status: Online-Only, [RefSeq, PubMed]; Expression of the YPEL3 gene was upregulated in human colonic adenocarcinoma tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Findings point to YPEL3 being a novel tumor suppressor, which upon induction triggers a permanent growth arrest in human tumor and normal cells., [RefSeq, PubMed]; In this review we show that transcriptionally active forms of p73 and p63, family members of p53, can transactivate the human YPEL3 gene[review] Review article Publication Status: Online-Only, [RefSeq, PubMed]; Involved in proliferation and apoptosis in myeloid precursor cells., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Steroid sulfatase deficiency causes cellular senescence and abnormal differentiation by inducing Yippee-like 3 expression in human keratinocytes. Publication Status: Online-Only, [RefSeq, PubMed]; YPEL3 is downregulated in colon tumors., [RefSeq, PubMed]; Yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. Erratum:[PLoS Genet. 2020 Oct 26;16(10):e1009156. doi: 10.1371/journal.pgen.1009156. PMID: 33104717] 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": "Q65Z99;Q86VK6;Q9BSJ4;Q9CQB6", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:2000774 positive regulation of cellular senescence", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P61236-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92536-1", "uniprot_id": [ { "id": "YLAT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92536", "type": "external" } ], "mass": 56828.0, "length": 515, "protein_name": "Y+L amino acid transporter 2", "gene_name": "SLC7A6", "organism": "Human", "refseq_name": "Y+L amino acid transporter 2", "refseq_ac": [ { "id": "NP_001070253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070253", "type": "external" } ], "gene_names_uniprotkb": "SLC7A6; KIAA0245", "gene_names_refseq": "LAT-2; LAT3; SLC7A6; y+LAT-2", "protein_names_uniprotkb": "Y+L amino acid transporter 2; Cationic amino acid transporter, y+ system; Solute carrier family 7 member 6; Y+LAT2; y(+)L-type amino acid transporter 2; y+LAT-2", "protein_names_refseq": "Y+L amino acid transporter 2; amino acid permease; solute carrier family 7 (amino acid transporter light chain, y+L system), member 6; solute carrier family 7 (cationic amino acid transporter, y+ system), member 6; y(+)L-type amino acid transporter 2; y+LAT2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9057); (R-HSA-210991); (R-HSA-352230)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;10358010;10391915;10485994;10698697;10823827;10863037;10880960;10891391;10903140;10921872;10930503;11078698;11237011;11243884;11278508;11311135;11318953;11342143;11417227;11591158;11719518;11742806;11827462;11943775;12202949;12527723;12558975;12809675;12930836;14603368;14707126;15151999;15280038;15659399;15756301;15901826;15918515;15946952;16260747;16785209;17197568;17329401;17996943;18195088;19562367;19901323;21097500;24652292;25418920;25892735;28904123;29393594;29769354;31217245;31345230;31705628;31844290;32157095;32265295;32350084;32357974;32488085;32502341;32938616;33592498;33912179;34050700;34087483;34185709;34357683;35051231;35154160;35314791;36215666;37938771;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9360995;9829974;9878049", "class_list": "", "function": "Functional analysis of LAT3 in prostate cancer: Its downstream target and relationship with androgen receptor., [RefSeq, PubMed]; Growth factor-activated PI3K/Akt signalling pathway regulates leucine transport through LAT3 in prostate cancer cell lines Publication Status: Online-Only, [RefSeq, PubMed]; Heterodimer with SLC3A2, that functions as an antiporter which operates as an efflux route by exporting cationic amino acids such as L-arginine from inside the cells in exchange with neutral amino acids like L-leucine, L-glutamine and isoleucine, plus sodium ions and may participate in nitric oxide synthesis (PubMed:10903140, PubMed:11311135, PubMed:14603368, PubMed:15756301, PubMed:16785209, PubMed:17329401, PubMed:19562367, PubMed:31705628, PubMed:9829974). Also exchanges L-arginine with L-lysine in a sodium-independent manner (PubMed:10903140). The transport mechanism is electroneutral and operates with a stoichiometry of 1:1 (PubMed:10903140). Contributes to ammonia-induced increase of L-arginine uptake in cerebral cortical astrocytes leading to ammonia-dependent increase of nitric oxide (NO) production via inducible nitric oxide synthase (iNOS) induction, and protein nitration (By similarity). May mediate transport of ornithine in retinal pigment epithelial (RPE) cells (PubMed:17197568). May also transport glycine betaine in a sodium dependent manner from the cumulus granulosa into the enclosed oocyte (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; STAT5A modulates CDYL2/SLC7A6 pathway to inhibit the proliferation and invasion of hepatocellular carcinoma by targeting to mTORC1., [RefSeq, PubMed]; Y+LAT1 and y+LAT2 contribution to arginine uptake in different human cell models: Implications in the pathophysiology of Lysinuric Protein Intolerance., [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": 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": 10, "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": "Q68DS4;Q7L1N3", "ec_number_list": [], "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0034618 arginine binding;GO:0015174 basic amino acid transmembrane transporter activity;GO:0061459 L-arginine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0015820 L-leucine transport;GO:0031460 glycine betaine transport;GO:0015804 neutral amino acid transport;GO:0006809 nitric oxide biosynthetic process;GO:0003333 amino acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q92536-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF39-1", "uniprot_id": [ { "id": "ZN483_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF39", "type": "external" } ], "mass": 85098.0, "length": 744, "protein_name": "Zinc finger protein 483", "gene_name": "ZNF483", "organism": "Human", "refseq_name": "zinc finger protein 483 isoform b", "refseq_ac": [ { "id": "NP_001007170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007170", "type": "external" } ], "gene_names_uniprotkb": "ZNF483; KIAA1962; ZKSCAN16", "gene_names_refseq": "ZKSCAN16; ZNF483; ZSCAN48", "protein_names_uniprotkb": "Zinc finger protein 483; Zinc finger protein with KRAB and SCAN domains 16", "protein_names_refseq": "zinc finger protein 483 isoform b; zinc finger protein HIT-10; zinc finger protein with KRAB and SCAN domains 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:158399); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;27846572;29557506;30379171;30429286;30451992;35051231;36241641;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": 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": 18, "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": "Q5VZN2;Q8NAE1", "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": 2.6, "record_id": "Q8TF39-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17032-1", "uniprot_id": [ { "id": "ZN37A_HUMAN", "url": "https://www.uniprot.org/uniprot/P17032", "type": "external" } ], "mass": 65418.0, "length": 561, "protein_name": "Zinc finger protein 37A", "gene_name": "ZNF37A", "organism": "Human", "refseq_name": "zinc finger protein 37A isoform a", "refseq_ac": [ { "id": "NP_001007095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007095", "type": "external" } ], "gene_names_uniprotkb": "ZNF37A; KOX21; ZNF37", "gene_names_refseq": "KOX21; ZNF37A; ZNF37", "protein_names_uniprotkb": "Zinc finger protein 37A; Zinc finger protein KOX21", "protein_names_refseq": "zinc finger protein 37A isoform a; zinc finger protein 37a (KOX 21); zinc finger protein KOX21", "tax_id": 9606, "disease": "", "pathway": " (hsa:7587); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11237011;11395415;12566394;14519192;15175151;15896744;16606702;16719718;2163759;2288909;23922231;25892735;29242379;30429286;31844290;32157095;32357974;33875786;33912179;8183939;8464732;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This suggests that the pathological molecular mechanisms linking ZNF37A and myogenesis may involve the signaling pathway that is known to promote myoblast recruitment during development and regeneration, [RefSeq, PubMed]; ZNF37A promotes tumor metastasis through transcriptional control of THSD4/TGF-beta axis in colorectal 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": 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": "B3KRQ3;D3DRZ3;Q96B88", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P17032-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SR6-1", "uniprot_id": [ { "id": "ZN382_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SR6", "type": "external" } ], "mass": 64010.0, "length": 550, "protein_name": "Zinc finger protein 382", "gene_name": "ZNF382", "organism": "Human", "refseq_name": "zinc finger protein 382 isoform 2", "refseq_ac": [ { "id": "NP_001243767", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243767", "type": "external" } ], "gene_names_uniprotkb": "ZNF382", "gene_names_refseq": "KS1; ZNF382", "protein_names_uniprotkb": "Zinc finger protein 382; KRAB/zinc finger suppressor protein 1; KS1; Multiple zinc finger and krueppel-associated box protein KS1", "protein_names_refseq": "KRAB/zinc finger suppressor protein 1; multiple zinc finger and krueppel-associated box protein KS1; zinc finger protein 382 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84911); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 46, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12459182;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;20166139;2028256;20682794;2163759;21876767;25009298;25274305;25645385;26813693;28273063;28832583;29242379;29557506;29760376;29956735;30779550;30804458;31154438;31289231;31427381;31678273;32157095;33150179;34932366;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "A Three Protein-Coding Gene Prognostic Model Predicts Overall Survival in Bladder Cancer Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of MAGE I proteins, MAGE-A3 or MAGE-C2, relieved repression of a reporter gene by ZNF382 and MAGE I expression relieved KAP1 mediated ID1 repression., [RefSeq, PubMed]; Findings demonstrate that ZNF382 functions as a bona fide tumour suppressor inhibiting oesophageal squamous cell carcinoma pathogenesis through inhibiting the Wnt/beta-catenin signalling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a sequence-specific transcriptional repressor., [UniProtKB, UniProtKB, UniProtKB]; Mapped to chromosome 19q13.13; transcript specific for ZNF382 is expressed at very early embryonic stage; at the adult stage, ZNF382 expression is restricted largely to heart tissue, [RefSeq, PubMed]; Methylation changes of GFRA1, SRF, and ZNF382 may be a potential biomarker set for prediction of gastric carcinoma metastasis., [RefSeq, PubMed]; Study suggests that ZNF382 functions as a tumor suppressor in gastric cancer (GC) cells, but is frequently methylated in both GC cell lines and primary gastric tumors., [RefSeq, PubMed]; This gene encodes a KRAB domain zinc finger transcription factor (KZNF). KZNFs play critical roles in the regulation of many cellular processes including differentiation, proliferation and apoptosis. The encoded protein inhibits activating protein 1 (AP-1) and nuclear factor kappa-B (NF-kB) signaling and may function as a tumor suppressor in multiple carcinomas. This gene is found in a cluster with other zinc finger protein genes on the long arm of chromosome 19, and alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]; ZNF382 acts as a tumor suppressor, and is co-regulated by HBx and epigenetic mechanism in Hepatitis B virus-related hepatocellular carcinogenesis., [RefSeq, PubMed]; ZNF382 is a functional tumor suppressor frequently methylated in multiple carcinomas., [RefSeq, PubMed]; ZNF382 is downregulated in multiple tumors due to hypermethylation of its promoter 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": 1, "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": "A3KMP6;A8MT55;C9K0V5;Q53ZY8;Q5JPJ2", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96SR6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB42-1", "uniprot_id": [ { "id": "ZN527_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB42", "type": "external" } ], "mass": 70902.0, "length": 609, "protein_name": "Zinc finger protein 527", "gene_name": "ZNF527", "organism": "Human", "refseq_name": "zinc finger protein 527", "refseq_ac": [ { "id": "NP_115829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115829", "type": "external" } ], "gene_names_uniprotkb": "ZNF527; KIAA1829", "gene_names_refseq": "ZNF527", "protein_names_uniprotkb": "Zinc finger protein 527", "protein_names_refseq": "zinc finger protein 527", "tax_id": 9606, "disease": "", "pathway": " (hsa:84503)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;26419067;31844290;31848261;32157095;32357974;32938616;33633747;35051231", "class_list": "", "function": "A high polymorphic ZNF527 allele frequency implies that rs386809049 polymorphism in ZNF527 gene cannot be the major cause of intellectual disability in the Ukrainian population., [RefSeq, PubMed]; 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": 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": "B4DVL5", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NB42-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0B5-1", "uniprot_id": [ { "id": "ZDHC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0B5", "type": "external" } ], "mass": 77545.0, "length": 715, "protein_name": "Palmitoyltransferase ZDHHC5", "gene_name": "ZDHHC5", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC5", "refseq_ac": [ { "id": "NP_056272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056272", "type": "external" } ], "gene_names_uniprotkb": "ZDHHC5; KIAA1748; ZNF375", "gene_names_refseq": "DHHC5; ZDHHC5; ZNF375", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC5; 2.3.1.225; DHHC-5; Zinc finger DHHC domain-containing protein 5; Zinc finger protein 375", "protein_names_refseq": "DHHC-5; membrane-associated DHHC5 zinc finger protein; palmitoyltransferase ZDHHC5; probable palmitoyltransferase ZDHHC5; zinc finger DHHC domain-containing protein 5; zinc finger DHHC-type containing 5; zinc finger DHHC-type palmitoyltransferase 5; zinc finger protein 375; zinc finger, DHHC domain containing 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:25921); (R-HSA-9694548)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;15144186;17081983;17389395;18083107;18220336;18452278;18669648;18691976;18767875;19413330;19415658;19651622;19690332;19801377;19901323;20068231;20166139;21406692;21820437;22915798;23186163;23584533;24129315;24275569;24715725;25502872;26334723;26992070;27846572;28832583;29185452;29242379;29393594;29493099;29557506;29632711;30429286;30524438;30573663;31154438;31402609;31530632;31611695;31649195;31780775;31844290;32157095;32161166;32350084;32363391;32366695;32518941;32676595;32897882;32938616;32958780;33298915;33310888;33392160;33592498;33912179;33968037;34117209;34293401;34428449;34433824;34528721;34599882;34932366;34961524;35051231;35154160;35251023;35318648;35561310;35580925;36010968;36284347;37938771;38092000;38177673;38233791;38530158;38599239;7986008", "class_list": "", "function": "Data show that palmitoyl acyltransferases DHHC5, DHHC6, and DHHC8 appear to be S-acylated on three cysteine residues within a novel CCX(7-13)C(S/T) motif downstream of a conserved Asp-His-His-Cys cysteine-rich domain., [RefSeq, PubMed]; Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates such as CTNND2, CD36, GSDMD, NLRP3, NOD1, NOD2, STAT3 and S1PR1 thus plays a role in various biological processes including cell adhesion, inflammation, fatty acid uptake, bacterial sensing or cardiac functions (PubMed:21820437, PubMed:29185452, PubMed:31402609, PubMed:31649195, PubMed:34293401, PubMed:38092000, PubMed:38530158, PubMed:38599239). Plays an important role in the regulation of synapse efficacy by mediating palmitoylation of delta-catenin/CTNND2, thereby increasing synaptic delivery and surface stabilization of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs) (PubMed:26334723). Under basal conditions, remains at the synaptic membrane through FYN-mediated phosphorylation that prevents association with endocytic proteins (PubMed:26334723). Neuronal activity enhances the internalization and trafficking of DHHC5 from spines to dendritic shafts where it palmitoylates delta-catenin/CTNND2 (PubMed:26334723). Regulates cell adhesion at the plasma membrane by palmitoylating GOLGA7B and DSG2 (PubMed:31402609). Plays a role in innate immune response by mediating the palmitoylation of NOD1 and NOD2 and their proper recruitment to the bacterial entry site and phagosomes (PubMed:31649195, PubMed:34293401). Also participates in fatty acid uptake by palmitoylating CD36 and thereby targeting it to the plasma membrane (PubMed:32958780). Upon binding of fatty acids to CD36, gets phosphorylated by LYN leading to inactivation and subsequent CD36 caveolar endocytosis (PubMed:32958780). Controls oligodendrocyte development by catalyzing STAT3 palmitoylation (By similarity). Acts as a regulator of inflammatory response by mediating palmitoylation of NLRP3 and GSDMD (PubMed:38092000, PubMed:38530158, PubMed:38599239). Palmitoylates NLRP3 to promote inflammasome assembly and activation (PubMed:38092000). Activates pyroptosis by catalyzing palmitoylation of gasdermin-D (GSDMD), thereby promoting membrane translocation and pore formation of GSDMD (PubMed:38530158, PubMed:38599239). Palmitoylates IFT81 and may contribute to maintaining its protein stability during spermatogenesis thereby supporting proper sperm tail assembly (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Reduction of DHHC5-mediated beclin 1 S-palmitoylation underlies autophagy decline in aging., [RefSeq, PubMed]; ZDHHC5-mediated NLRP3 palmitoylation promotes NLRP3-NEK7 interaction and inflammasome activation., [RefSeq, PubMed]; ZDHHC5-mediated S-palmitoylation of FAK promotes its membrane localization and epithelial-mesenchymal transition in glioma. 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": 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": 40, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q2TGF0;Q6ZMF0;Q8TAK8;Q9H923;Q9UFI7", "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:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006869 lipid transport;GO:0007283 spermatogenesis;GO:0045087 innate immune response;GO:0072659 protein localization to plasma membrane;GO:1903078 positive regulation of protein localization to plasma membrane", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9C0B5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEK5-1", "uniprot_id": [ { "id": "ZN548_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEK5", "type": "external" } ], "mass": 62728.0, "length": 533, "protein_name": "Zinc finger protein 548", "gene_name": "ZNF548", "organism": "Human", "refseq_name": "zinc finger protein 548 isoform 1", "refseq_ac": [ { "id": "NP_001166244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166244", "type": "external" } ], "gene_names_uniprotkb": "ZNF548", "gene_names_refseq": "ZNF548", "protein_names_uniprotkb": "Zinc finger protein 548", "protein_names_refseq": "zinc finger protein 548 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:147694); (R-HSA-212436)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;25645385;25892735;28832583;28834231;29242379;32502341;32938616;33091337;33691108;33717175;33968037;34561969;35051231;35580925;36010968;36581221;37217939;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": "Q96M05", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8NEK5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92618-1", "uniprot_id": [ { "id": "ZN516_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92618", "type": "external" } ], "mass": 124289.0, "length": 1163, "protein_name": "Zinc finger protein 516", "gene_name": "ZNF516", "organism": "Human", "refseq_name": "zinc finger protein 516", "refseq_ac": [ { "id": "NP_055458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055458", "type": "external" } ], "gene_names_uniprotkb": "ZNF516; KIAA0222", "gene_names_refseq": "HsT287; ZNF516", "protein_names_uniprotkb": "Zinc finger protein 516", "protein_names_refseq": "zinc finger protein 516", "tax_id": 9606, "disease": "", "pathway": " (hsa:9658)", "pathway_count": 1, "publication_count": 44, "publication_id_list": "11237011;19413330;19664994;19664995;20112406;23045156;23446422;23481700;25505266;25576301;25578880;25645385;26992070;27543614;27862975;28832583;28834231;28904123;29242379;29557506;30410026;30620550;30833945;31154438;31222486;31844290;32157095;32387766;32502341;32897882;32983136;33633747;33717175;33968037;33981976;34087483;34171305;35051231;35580925;36010968;36241641;36284347;38665916;38761180", "class_list": "", "function": "MiR-371-5p regulates trophoblast cell proliferation, migration, and invasion by directly targeting ZNF516., [RefSeq, PubMed]; One interacting gene pair (RBMS3 versus ZNF516) which, even after Bonferroni correction for multiple testing, showed consistently significant effects on hip bone mineral density., [RefSeq, PubMed]; Transcriptional regulator that binds to the promoter and activates the transcription of genes promoting brown adipose tissue (BAT) differentiation. Among brown adipose tissue-specific genes, binds the proximal region of the promoter of the UCP1 gene to activate its transcription and thereby regulate thermogenesis (By similarity). May also play a role in the cellular response to replication stress (PubMed:23446422)., [UniProtKB, PubMed, UniProtKB]; Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 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": 0, "reported_glycation": 0, "reported_snv": 34, "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: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:0000987 cis-regulatory region sequence-specific DNA binding;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0009409 response to cold;GO:0050873 brown fat cell differentiation;GO:0060612 adipose tissue development;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q92618-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7L9-1", "uniprot_id": [ { "id": "ZSCA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7L9", "type": "external" } ], "mass": 69547.0, "length": 614, "protein_name": "Zinc finger and SCAN domain-containing protein 2", "gene_name": "ZSCAN2", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 2 isoform 3", "refseq_ac": [ { "id": "NP_001007073", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007073", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN2; ZFP29; ZNF854", "gene_names_refseq": "ZFP29; ZNF854; ZSCAN2", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 2; Zfp-29; Zinc finger protein 29 homolog; Zinc finger protein 854", "protein_names_refseq": "zfp-29; zinc finger and SCAN domain-containing protein 2 isoform 3; zinc finger protein 29 homolog; zinc finger protein 854", "tax_id": 9606, "disease": "", "pathway": " (hsa:54993)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;1937051;24366607;25576301;26154972;27846572;27920218;28218747;28832583;28904123;29242379;29437277;30410026;30444036;31217245;31844290;33298915;36010968;36241641", "class_list": "", "function": "May be involved in transcriptional regulation during the post-meiotic stages of spermatogenesis., [UniProtKB, UniProtKB, UniProtKB]; PMID:1937051 pertains to studies in mouse., [RefSeq, PubMed]; The protein encoded by this gene contains several copies of zinc finger motif, which is commonly found in transcriptional regulatory proteins. Studies in mice show that this gene is expressed during embryonic development, and specifically in the testis in adult mice, suggesting that it may play a role in regulating genes in germ cells. Alternative splicing of this gene results in several 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A6NG83;B2RMQ9;Q6ZQY9;Q9NWU4", "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:0000976 transcription cis-regulatory region 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:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q7Z7L9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULD9-1", "uniprot_id": [ { "id": "ZN608_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULD9", "type": "external" } ], "mass": 162208.0, "length": 1512, "protein_name": "Zinc finger protein 608", "gene_name": "ZNF608", "organism": "Human", "refseq_name": "zinc finger protein 608 isoform 1", "refseq_ac": [ { "id": "NP_065798", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065798", "type": "external" } ], "gene_names_uniprotkb": "ZNF608; KIAA1281", "gene_names_refseq": "NY-REN-36; ZNF608", "protein_names_uniprotkb": "Zinc finger protein 608; Renal carcinoma antigen NY-REN-36", "protein_names_refseq": "renal carcinoma antigen NY-REN-36; zinc finger protein 608 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57507)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1101/2023.09.13.557529;10508479;11237011;17525332;18452278;19413330;19664994;19664995;20068231;21406692;23186163;23481700;24275569;24715725;25418920;25576301;25645385;25755297;25892735;26992070;27166999;28832583;28834231;28904123;29242379;29508533;29557506;29786170;30379171;30779550;31154438;31217245;31844290;31848261;32157095;32387766;32488085;32502341;32897882;33592498;33912179;33968037;35051231;35318648;35580925;36010968;36284347;37217939", "class_list": "", "function": "Data indicate RNA Binding Protein with Multiple Splicing (RBPMS), Regulator of Chromosome Condensation and POZ Domain Containing Protein 1 (RCBTB1), and Zinc Finger protein 608 (ZNF608) as miR-21-3p target genes., [RefSeq, PubMed]; Transcription factor, which represses ZNF609 transcription., [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": 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": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 59, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A7E2W9;Q3SYM6;Q68D12;Q8IY05;Q9Y5A1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "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", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9ULD9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCF1-1", "uniprot_id": [ { "id": "ZFAN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCF1", "type": "external" } ], "mass": 30787.0, "length": 268, "protein_name": "AN1-type zinc finger protein 1", "gene_name": "ZFAND1", "organism": "Human", "refseq_name": "AN1-type zinc finger protein 1 isoform b", "refseq_ac": [ { "id": "NP_001164267", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164267", "type": "external" } ], "gene_names_uniprotkb": "ZFAND1", "gene_names_refseq": "ZFAND1", "protein_names_uniprotkb": "AN1-type zinc finger protein 1; Zinc finger AN1-type-containing protein 1", "protein_names_refseq": "AN1-type zinc finger protein 1 isoform b; AN1-type zinc finger protein 1; zinc finger AN1-type-containing protein 1; zinc finger, AN1-type domain 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79752)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;22645359;25418920;25576301;26811146;26929215;26992070;28063628;28832583;28834231;28904123;29393594;29632046;29786170;29804830;30315122;30410026;30429286;30484775;31154438;31217245;31844290;31998317;32157095;32350084;32387766;32938616;33968037;34357683;35051231;35580925;36241641;37316325;38537699", "class_list": "", "function": "By recruiting the 26S proteasome and the ubiquitin-selective ATPase p97 to arsenite-induced stress granules, ZFAND1 ensures their timely clearance and prevents their aberration., [RefSeq, PubMed]; Plays a role in the regulation of cytoplasmic stress granules (SGs) turnover. SGs are dynamic and transient cytoplasmic ribonucleoprotein assemblies important for cellular protein homeostasis when protein production is suspended after acute exogenous stress (PubMed:29804830). Associates with SGs and is involved in the efficient and specific arsenite-induced clearance process of SGs through the recruitment of the ubiquitin-selective ATPase VCP and the 26S proteasome (PubMed:29804830). This process requires both complexes for efficient degradation of damaged ubiquitinated SG proteins during recovery from arsenite stress, and hence avoiding aberrant cytoplasmic SGs degradation via autophagy (PubMed:29804830)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Structural insight into the ZFAND1-p97 interaction involved in stress granule clearance., [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": "E5RIG0;E5RJ99;Q658R7;Q6IA32;Q6PGQ6;Q9H810", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0070628 proteasome binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0090316 positive regulation of intracellular protein transport;GO:0035617 stress granule disassembly;GO:1903843 cellular response to arsenite ion", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8TCF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75346-1", "uniprot_id": [ { "id": "ZN253_HUMAN", "url": "https://www.uniprot.org/uniprot/O75346", "type": "external" } ], "mass": 57602.0, "length": 499, "protein_name": "Zinc finger protein 253", "gene_name": "ZNF253", "organism": "Human", "refseq_name": "zinc finger protein 253 isoform 2", "refseq_ac": [ { "id": "NP_001318062", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001318062", "type": "external" } ], "gene_names_uniprotkb": "ZNF253; BMZF1; ZNF411", "gene_names_refseq": "BMZF-1; BMZF1; ZNF253; ZNF411", "protein_names_uniprotkb": "Zinc finger protein 253; BMZF-1; Bone marrow zinc finger 1; Zinc finger protein 411", "protein_names_refseq": "DNA-binding protein; bone marrow zinc finger 1; zinc finger protein 253 isoform 2; zinc finger protein 411", "tax_id": 9606, "disease": "", "pathway": " (hsa:56242); (R-HSA-212436)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10235266;10330177;10585455;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;25576301;28228285;28855257;29493099;30379171;31092671;31217245;31530632;31844290;32387766;33717175;8183939;8769649;9637681;9653119", "class_list": "", "function": "May function as a transcription factor. Seem to have a transcriptional repression activity., [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": 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": 24, "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": "A4FVA7;Q0P6G3;Q6P0L2;Q8NCA3;Q8NCF9", "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_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "O75346-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXB4-1", "uniprot_id": [ { "id": "ZN606_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXB4", "type": "external" } ], "mass": 91812.0, "length": 792, "protein_name": "Zinc finger protein 606", "gene_name": "ZNF606", "organism": "Human", "refseq_name": "zinc finger protein 606 isoform 1", "refseq_ac": [ { "id": "NP_001334951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001334951", "type": "external" } ], "gene_names_uniprotkb": "ZNF606; KIAA1852; ZNF328", "gene_names_refseq": "ZNF328; ZNF606", "protein_names_uniprotkb": "Zinc finger protein 606; Zinc finger protein 328", "protein_names_refseq": "zinc finger protein 328; zinc finger protein 606 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:80095); (R-HSA-212436)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;15964554;16606702;16719718;2163759;25892735;27634221;27920218;28832583;28834231;29242379;29393594;29557506;29769354;30130524;30429286;31154438;31217245;32157095;32502341;32938616;33717175;33968037;35051231;35580925;36284347;36581221;8183939;8769649;9637681;9653119", "class_list": "", "function": "Findings suggest that it is novel and specific for the association of ZNF606 gene expression from monocytes with the risk of CAD, especially in patients with multiple coronary artery stenosis, [RefSeq, PubMed]; May act as a transcriptional repressor., [UniProtKB, PubMed]; Results suggest that ZNF328 protein may act as a transcriptional repressor in mitogen-activated protein kinase (MAPK) signaling pathway to mediate cellular functions, [RefSeq, PubMed]; This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]., [RefSeq]; ZNF606 prevents Sox9 binding to the enhancers of its target gene col2a1. Importantly, the interaction between ZNF606 and Sox9 was decreased during chondrocyte differentiation., [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": "A8KAN2;Q8NE04;Q96JH5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region 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": 3.8, "record_id": "Q8WXB4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UE3-1", "uniprot_id": [ { "id": "ZN546_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UE3", "type": "external" } ], "mass": 98405.0, "length": 836, "protein_name": "Zinc finger protein 546", "gene_name": "ZNF546", "organism": "Human", "refseq_name": "zinc finger protein 546 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001284692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284692", "type": "external" } ], "gene_names_uniprotkb": "ZNF546; ZNF49", "gene_names_refseq": "ZNF49; ZNF546", "protein_names_uniprotkb": "Zinc finger protein 546; Zinc finger protein 49", "protein_names_refseq": "CTC-471F3.6; zinc finger protein 49; zinc finger protein 546 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:339327); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16959974;2163759;23301498;25418920;26811146;32983136;35051231;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": "A8K913", "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_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": 2.3, "record_id": "Q86UE3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZR52-1", "uniprot_id": [ { "id": "ZN493_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZR52", "type": "external" } ], "mass": 75342.0, "length": 646, "protein_name": "Zinc finger protein 493", "gene_name": "ZNF493", "organism": "Human", "refseq_name": "zinc finger protein 493 isoform 3", "refseq_ac": [ { "id": "NP_001070146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070146", "type": "external" } ], "gene_names_uniprotkb": "ZNF493", "gene_names_refseq": "ZNF493", "protein_names_uniprotkb": "Zinc finger protein 493", "protein_names_refseq": "zinc finger protein 493 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:284443); (R-HSA-212436)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;27846572;30379171;31844290;32357974;32387766;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": 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": "G5E974;Q59GM3;Q6ZSF6;Q8N1Z6;Q8N965;Q9BR99", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region 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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q6ZR52-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6R6-1", "uniprot_id": [ { "id": "Z780B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6R6", "type": "external" } ], "mass": 96807.0, "length": 833, "protein_name": "Zinc finger protein 780B", "gene_name": "ZNF780B", "organism": "Human", "refseq_name": "zinc finger protein 780B", "refseq_ac": [ { "id": "NP_001005851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005851", "type": "external" } ], "gene_names_uniprotkb": "ZNF780B; ZNF779", "gene_names_refseq": "ZNF779; ZNF780B", "protein_names_uniprotkb": "Zinc finger protein 780B; Zinc finger protein 779", "protein_names_refseq": "zinc finger protein 779; zinc finger protein 780B", "tax_id": 9606, "disease": "", "pathway": " (hsa:163131)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;25418920;25892735;26992070;28228285;28446606;28832583;29242379;29769354;30379171;30779550;31844290;32157095;32387766;33717175", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 31, "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": "B9EH00", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;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_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": 1.9, "record_id": "Q9Y6R6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96K62-1", "uniprot_id": [ { "id": "ZBT45_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96K62", "type": "external" } ], "mass": 54008.0, "length": 511, "protein_name": "Zinc finger and BTB domain-containing protein 45", "gene_name": "ZBTB45", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 45", "refseq_ac": [ { "id": "NP_001303907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303907", "type": "external" } ], "gene_names_uniprotkb": "ZBTB45; ZNF499", "gene_names_refseq": "ZBTB45; ZNF499", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 45; Zinc finger protein 499", "protein_names_refseq": "zinc finger and BTB domain-containing protein 45; zinc finger protein 499", "tax_id": 9606, "disease": "", "pathway": " (hsa:84878)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;26154972;28228285;28832583;29242379;29393594;29493099;29557506;29786170;30315122;31092671;31844290;32161166;32897882;33691108;33936100;33968037;34171305;35051231;35318648;36010968", "class_list": "", "function": "May be involved in transcriptional regulation (Probable). In the central nervous system, may play a role in glial cell differentiation (By similarity)., [UniProtKB, UniProtKB]", "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": 0, "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": 3, "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96K62-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYG2-1", "uniprot_id": [ { "id": "ZDHC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYG2", "type": "external" } ], "mass": 34170.0, "length": 299, "protein_name": "Palmitoyltransferase ZDHHC3", "gene_name": "ZDHHC3", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC3 isoform 1", "refseq_ac": [ { "id": "NP_001128651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128651", "type": "external" } ], "gene_names_uniprotkb": "ZDHHC3; HSD49", "gene_names_refseq": "DHHC-3; DHHC3; GODZ; ZDHHC3; ZNF373", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC3; 2.3.1.-; 2.3.1.225; Acyltransferase ZDHHC3; DHHC-3; Protein DHHC1; Zinc finger DHHC domain-containing protein 3", "protein_names_refseq": "DHHC1 protein; Golgi apparatus-specific protein with DHHC zinc finger domain; acyltransferase ZDHHC3; golgi-specific DHHC Zinc Finger Protein; palmitoyltransferase ZDHHC3 isoform 1; palmitoyltransferase ZDHHC3; zinc finger DHHC domain-containing protein 3; zinc finger DHHC-type containing 3; zinc finger DHHC-type palmitoyltransferase 3; zinc finger protein 373; zinc finger, DHHC domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:51304); (R-HSA-9694548)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "11237011;16647879;19001095;19608861;21926431;22240897;22314500;22915798;23034182;26535572;26992070;27247265;27920218;28218747;28228285;29242379;29314611;29437277;31844290;32350084;32363391;32366695;32387766;32518941;32676595;32897882;32938616;32986127;33310888;33968037;34117209;34357683;34428449;34528721;34599882;34961524;35893977;36010968;36241641;37544897;38169466;38619631;7986008", "class_list": "", "function": "Antioxidant functions of DHHC3 suppress anti-cancer drug activities., [RefSeq, PubMed]; Golgi-localized palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates (PubMed:19001095, PubMed:21926431, PubMed:22240897, PubMed:22314500, PubMed:23034182). Has no stringent fatty acid selectivity and in addition to palmitate can also transfer onto target proteins myristate from tetradecanoyl-CoA and stearate from octadecanoyl-CoA (By similarity). Plays an important role in G protein-coupled receptor signaling pathways involving GNAQ and potentially other heterotrimeric G proteins by regulating their dynamic association with the plasma membrane (PubMed:19001095). Palmitoylates ITGA6 and ITGB4, thereby regulating the alpha-6/beta-4 integrin localization, expression and function in cell adhesion to laminin (PubMed:22314500). Plays a role in the TRAIL-activated apoptotic signaling pathway most probably through the palmitoylation and localization to the plasma membrane of TNFRSF10A (PubMed:22240897). In the brain, by palmitoylating the gamma subunit GABRG2 of GABA(A) receptors and regulating their postsynaptic accumulation, plays a role in synaptic GABAergic inhibitory function and GABAergic innervation (By similarity). Palmitoylates the neuronal protein GAP43 which is also involved in the formation of GABAergic synapses (By similarity). Palmitoylates NCDN thereby regulating its association with endosome membranes (By similarity). Probably palmitoylates PRCD and is involved in its proper localization within the photoreceptor (By similarity). Could mediate the palmitoylation of NCAM1 and regulate neurite outgrowth (By similarity). Could palmitoylate DNAJC5 and regulate its localization to Golgi membranes (By similarity). Also constitutively palmitoylates DLG4 (By similarity). May also palmitoylate SNAP25 (By similarity). Could palmitoylate the glutamate receptors GRIA1 and GRIA2 but this has not been confirmed in vivo (By similarity). Could also palmitoylate the D(2) dopamine receptor DRD2 (PubMed:26535572). May also palmitoylate LAMTOR1, promoting its localization to lysosomal membranes (PubMed:35893977). Palmitoylates the Toll-like receptor 9/TLR9 in the Golgi and thereby regulates TLR9 trafficking to endosomes (PubMed:38169466). May palmitoylate CALHM1 and CALHM3 subunits of gustatory voltage-gated ion channels and modulate channel gating and kinetics (By similarity). Catalyzes the palmitoylation of CADM4 at 'Cys-347', ensuring its localization to the plasma membrane (PM) and protein stability (By similarity). The presence of CADM4 at the PM is essential for its function in CNS myelination, particularly through its associations with other cell adhesion molecules (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; IFI27 Integrates Succinate and Fatty Acid Oxidation to Promote Adipocyte Thermogenic Adaption., [RefSeq, PubMed]; May also function as a calcium transporter., [UniProtKB, UniProtKB]; ZDHHC3-mediated S-palmitoylation of SLC9A2 regulates apoptosis in kidney clear cell carcinoma. 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": 3, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q53A17;Q96BL0", "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:0042803 protein homodimerization activity;GO:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0016409 palmitoyltransferase activity;GO:0019705 protein-cysteine S-myristoyltransferase activity;GO:0140439 protein-cysteine S-stearoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0072659 protein localization to plasma membrane;GO:0006612 protein targeting to membrane;GO:0032230 positive regulation of synaptic transmission, GABAergic;GO:0072657 protein localization to membrane;GO:0036462 TRAIL-activated apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9NYG2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUA8-1", "uniprot_id": [ { "id": "ZBT40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUA8", "type": "external" } ], "mass": 138118.0, "length": 1239, "protein_name": "Zinc finger and BTB domain-containing protein 40", "gene_name": "ZBTB40", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 40 isoform a", "refseq_ac": [ { "id": "NP_001077090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077090", "type": "external" } ], "gene_names_uniprotkb": "ZBTB40; KIAA0478", "gene_names_refseq": "ZBTB40; ZNF923", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 40", "protein_names_refseq": "zinc finger and BTB domain-containing protein 40 isoform a; zinc finger and BTB domain-containing protein 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:9923)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;11237011;17081983;17525332;18445777;18452278;18669648;19691289;20068231;20554715;22645359;22869377;23186163;23481700;24366607;24714562;25576301;25645385;25880248;25892735;26024233;26154972;26375851;26728094;26811146;26992070;27397612;27600516;27846572;27862975;28218747;28228285;28514659;28832583;28904123;29242379;29437277;29493099;29557506;30315122;30410026;30429286;30524438;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33912179;33968037;34171305;34185709;34509645;34561969;34932366;35051231;35494241;35580925;36010968;36241641;36680554;37454741;37938771;38253038", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Risk Variants in or Near ZBTB40 AND NFATC1 Increase the Risk of Both IBD and Adverse Bone Health Outcomes Highlighting Common Genetic Underpinnings Across Both Diseases., [RefSeq, PubMed]; ZBTB40 is a telomere-associated protein and protects telomeres in human ALT cells., [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": 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": 0, "reported_glycation": 0, "reported_snv": 22, "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": "O75066;Q5TFU5;Q8N1R1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion 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:0006974 DNA damage response;GO:0030282 bone mineralization", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9NUA8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NAP3-1", "uniprot_id": [ { "id": "ZBT38_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NAP3", "type": "external" } ], "mass": 134257.0, "length": 1195, "protein_name": "Zinc finger and BTB domain-containing protein 38", "gene_name": "ZBTB38", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 38", "refseq_ac": [ { "id": "NP_001073881", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073881", "type": "external" } ], "gene_names_uniprotkb": "ZBTB38", "gene_names_refseq": "CIBZ; PPP1R171; ZBTB38; ZNF921", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 38", "protein_names_refseq": "protein phosphatase 1, regulatory subunit 171; zinc finger and BTB domain-containing protein 38", "tax_id": 9606, "disease": "", "pathway": " (hsa:253461)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;16354688;17081983;18391951;18391952;18669648;18991276;19651622;21993680;23251453;23481700;24715725;24726359;25218447;25576301;25755297;25772364;25892735;26154972;26375851;26992070;27600516;27846572;27862975;28832583;28837730;28904123;29242379;29493099;29557506;29632711;29769354;29786170;30192525;30355731;30379171;30429286;30484775;30569128;31092671;31217245;31844290;31848261;31998317;32157095;32161166;32387766;32488085;32502341;32938616;32983136;33592498;33633747;33717175;33968037;33981976;34171305;34185709;34509645;34932366;35051231;35318648;35580925;36000449;36010968;36241641;36284347;36581221;37938771", "class_list": "", "function": "Context-dependent CpG methylation directs cell-specific binding of transcription factor ZBTB38., [RefSeq, PubMed]; Study findings suggested that ZBTB38 promoted migration and invasive growth of bladder cancer cells through facilitation of the Wnt/betacatenin signaling pathway., [RefSeq, PubMed]; The mechanism by which this ZF domain of ZBTB38 selectively recognizes methylated CpG sites, [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger transcriptional activator that binds methylated DNA. The encoded protein can form homodimers or heterodimers through the zinc finger domains. In mouse, inhibition of this protein has been associated with apoptosis in some cell types. [provided by RefSeq, Jun 2010]., [RefSeq]; There was strongest association with SNPs in the ZBTB38 gene and adult human height., [RefSeq, PubMed]; Transcriptional regulator with bimodal DNA-binding specificity. Binds with a higher affinity to methylated CpG dinucleotides in the consensus sequence 5'-CGCG-3' but can also bind to E-box elements (5'-CACGTG-3'). Can also bind specifically to a single methyl-CpG pair. Represses transcription in a methyl-CpG-dependent manner (PubMed:16354688). Plays an important role in regulating DNA replication and common fragile sites (CFS) stability in a RBBP6- and MCM10-dependent manner; represses expression of MCM10 which plays an important role in DNA-replication (PubMed:24726359). Acts as a transcriptional activator. May be involved in the differentiation and/or survival of late postmitotic neurons (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; ZBTB38 binds methylated methylated CpGs in vitro and in vivo and represses transcrption., [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": 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": "D3DNF6", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization 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:0072562 blood microparticle;GO:0005694 chromosome", "go_biological_process": "GO:0006351 DNA-templated transcription;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;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q8NAP3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF47-1", "uniprot_id": [ { "id": "ZFP90_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF47", "type": "external" } ], "mass": 73031.0, "length": 636, "protein_name": "Zinc finger protein 90 homolog", "gene_name": "ZFP90", "organism": "Human", "refseq_name": "zinc finger protein 90 homolog isoform 1", "refseq_ac": [ { "id": "NP_001292132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001292132", "type": "external" } ], "gene_names_uniprotkb": "ZFP90; KIAA1954; ZNF756", "gene_names_refseq": "FIK; NK10; ZFP90; ZNF756; zfp-90", "protein_names_uniprotkb": "Zinc finger protein 90 homolog; Zfp-90; Zinc finger protein 756", "protein_names_refseq": "FOXP3-interacting KRAB domain-containing protein; zinc finger protein 476; zinc finger protein 756; zinc finger protein 90 homolog isoform 1; zinc finger protein 90 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:146198); (R-HSA-212436)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;21284946;2163759;23481700;23543754;24715725;26154972;28904123;29242379;29508533;29557506;29632711;29786170;30429286;31641208;31848261;32157095;32265295;32387766;32502341;32897882;32938616;33141586;33298915;33796098;33936100;35051231;36241641;8183939;8769649;9637681;9653119", "class_list": "", "function": "A 16q22.1 variant confers susceptibility to colorectal cancer as a distal regulator of ZFP90., [RefSeq, PubMed]; Acts as a bridge between FOXP3 and the corepressor TRIM28, and is required for the transcriptional repressor activity of FOXP3 in regulatory T-cells (Treg)., [UniProtKB, PubMed]; Assessing the Function of the ZFP90 Variant rs1170426 in SLE and the Association Between SLE Drug Target and Susceptibility Genes. Erratum:[Front Immunol. 2022 Feb 18;13:840847. doi: 10.3389/fimmu.2022.840847. PMID: 35251037] Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits the transcriptional repressor activity of REST by inhibiting its binding to DNA, thereby derepressing transcription of REST target genes., [UniProtKB, PubMed]; This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RU00;B3KVE7;L7S2P3;Q49AD1;Q96MQ6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion 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: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": 4.1, "record_id": "Q8TF47-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N587-1", "uniprot_id": [ { "id": "ZN561_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N587", "type": "external" } ], "mass": 55197.0, "length": 486, "protein_name": "Zinc finger protein 561", "gene_name": "ZNF561", "organism": "Human", "refseq_name": "zinc finger protein 561 isoform 2", "refseq_ac": [ { "id": "NP_001317294", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317294", "type": "external" } ], "gene_names_uniprotkb": "ZNF561", "gene_names_refseq": "ZNF561", "protein_names_uniprotkb": "Zinc finger protein 561", "protein_names_refseq": "zinc finger protein 561 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:93134); (R-HSA-212436)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24190977;25880248;25892735;26154972;28228285;28514659;29242379;29557506;29769354;31217245;31844290;32157095;32357974;32983136;33717175;33981976;35051231;37217939;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": 22, "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": "B4E2Q8;Q6PJS0", "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_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": 3.6, "record_id": "Q8N587-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWS9-1", "uniprot_id": [ { "id": "ZN446_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWS9", "type": "external" } ], "mass": 48957.0, "length": 450, "protein_name": "Zinc finger protein 446", "gene_name": "ZNF446", "organism": "Human", "refseq_name": "zinc finger protein 446 isoform 1", "refseq_ac": [ { "id": "NP_060378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060378", "type": "external" } ], "gene_names_uniprotkb": "ZNF446; ZKSCAN20", "gene_names_refseq": "ZKSCAN20; ZNF446; ZSCAN52", "protein_names_uniprotkb": "Zinc finger protein 446; Zinc finger protein with KRAB and SCAN domains 20", "protein_names_refseq": "zinc finger protein 446 isoform 1; zinc finger protein with KRAB and SCAN domains 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:55663); (R-HSA-212436)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15118850;15175151;15896744;15936718;16606702;16719718;19690332;21406692;2163759;23186163;24275569;24715725;26992070;29437277;29557506;30410026;31844290;31848261;32157095;33298915;33912179;34171305;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Overexpression of ZNF446 in COS-7 cells inhibits the transcriptional activities of SRE and AP-1., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "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": "Q96AF5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion 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:0003677 DNA binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0016607 nuclear speck;GO:0000785 chromatin", "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": 3.2, "record_id": "Q9NWS9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYB9-1", "uniprot_id": [ { "id": "ZN595_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYB9", "type": "external" } ], "mass": 74302.0, "length": 648, "protein_name": "Zinc finger protein 595", "gene_name": "ZNF595", "organism": "Human", "refseq_name": "zinc finger protein 595 isoform b", "refseq_ac": [ { "id": "NP_001272981", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272981", "type": "external" } ], "gene_names_uniprotkb": "ZNF595", "gene_names_refseq": "ZNF595", "protein_names_uniprotkb": "Zinc finger protein 595", "protein_names_refseq": "zinc finger protein 595 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:152687); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26375851;29242379;29786170;30779550;31217245;31844290;35051231;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein belonging to the Cys2His2 zinc finger protein family, whose members function as transcription factors that can regulate a broad variety of developmental and cellular processes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 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": 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": "Q7Z3I0", "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_cellular_component": "GO:0005634 nucleus", "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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q8IYB9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6RFH5-1", "uniprot_id": [ { "id": "WDR74_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6RFH5", "type": "external" } ], "mass": 42441.0, "length": 385, "protein_name": "WD repeat-containing protein 74", "gene_name": "WDR74", "organism": "Human", "refseq_name": "WD repeat-containing protein 74 isoform 2", "refseq_ac": [ { "id": "NP_001294906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294906", "type": "external" } ], "gene_names_uniprotkb": "WDR74; NSA1", "gene_names_refseq": "Nsa1; WDR74", "protein_names_uniprotkb": "WD repeat-containing protein 74; NOP seven-associated protein 1", "protein_names_refseq": "NOP seven-associated protein 1; WD repeat-containing protein 74 isoform 2; WD repeat-containing protein 74", "tax_id": 9606, "disease": "", "pathway": " (hsa:54663)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12429849;17081983;18669648;19651622;19691289;20068231;22299025;22645359;23186163;24129315;24275569;24366607;24714562;25576301;25645385;26154972;26456651;26728094;26992070;27600516;27846572;27893789;27920218;28218747;28228285;28416111;28832583;28834231;28904123;29107693;29242379;29393594;29437277;29493099;29508533;29557506;29789417;30594465;31838084;31844290;32005977;32157095;32488085;32502341;32938616;32983136;33633747;33717175;33968037;34171305;35051231;36284347;36701849;37331183", "class_list": "", "function": "Regulatory protein of the MTREX-exosome complex involved in the synthesis of the 60S ribosomal subunit (PubMed:26456651). Participates in an early cleavage of the pre-rRNA processing pathway in cooperation with NVL (PubMed:29107693). Required for blastocyst formation, is necessary for RNA transcription, processing and/or stability during preimplantation development (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Results suggest that WDR74 is a novel regulatory protein of the MTR4-exsosome complex whose interaction is regulated by NVL2 and is involved in ribosome biogenesis, [RefSeq, PubMed]; Through direct interactions with Smad proteins, WDR74 enhances TGF-beta-mediated phosphorylation and nuclear accumulation of Smad2 and Smad3., [RefSeq, PubMed]; WDR74 induces nuclear beta-catenin accumulation and activates Wnt-responsive genes to promote lung cancer growth and metastasis., [RefSeq, PubMed]; WDR74 modulates melanoma tumorigenesis and metastasis through the RPL5-MDM2-p53 pathway., [RefSeq, PubMed]; WDR74 rs11231247 contributes to the susceptibility and prognosis of non-small cell lung cancer., [RefSeq, PubMed]; WDR74 serves as a novel therapeutic target by its oncogenic role in 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": 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": 4, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 7, "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": "A8K8G5;Q9BRC9;Q9H6X8;Q9NVY2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0030687 preribosome, large subunit precursor", "go_biological_process": "GO:0042273 ribosomal large subunit biogenesis;GO:0006364 rRNA processing;GO:0016070 RNA metabolic process;GO:0001825 blastocyst formation", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q6RFH5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6V9R5-1", "uniprot_id": [ { "id": "ZN562_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6V9R5", "type": "external" } ], "mass": 48563.0, "length": 426, "protein_name": "Zinc finger protein 562", "gene_name": "ZNF562", "organism": "Human", "refseq_name": "zinc finger protein 562 isoform a", "refseq_ac": [ { "id": "NP_001123503", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123503", "type": "external" } ], "gene_names_uniprotkb": "ZNF562", "gene_names_refseq": "ZNF562", "protein_names_uniprotkb": "Zinc finger protein 562", "protein_names_refseq": "zinc finger protein 562 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:54811); (R-HSA-212436)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25892735;26154972;28228285;28832583;29557506;29769354;31217245;31844290;32357974;32502341;33912179;33968037;33981976;35051231;36010968;38838015;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": "Q32MN2;Q9NXS5", "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:1990837 sequence-specific double-stranded DNA 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": 3.3, "record_id": "Q6V9R5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08AN1-1", "uniprot_id": [ { "id": "ZN616_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08AN1", "type": "external" } ], "mass": 90273.0, "length": 781, "protein_name": "Zinc finger protein 616", "gene_name": "ZNF616", "organism": "Human", "refseq_name": "zinc finger protein 616", "refseq_ac": [ { "id": "NP_848618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848618", "type": "external" } ], "gene_names_uniprotkb": "ZNF616", "gene_names_refseq": "ZNF616", "protein_names_uniprotkb": "Zinc finger protein 616", "protein_names_refseq": "zinc finger protein 616", "tax_id": 9606, "disease": "", "pathway": " (hsa:90317); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;29557506;30429286;31844290;32157095;35051231;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": 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": "B3KRV1;Q0P658;Q658V7", "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:0005730 nucleolus;GO:0015630 microtubule cytoskeleton", "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": 2.1, "record_id": "Q08AN1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UQ0-1", "uniprot_id": [ { "id": "ZN589_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UQ0", "type": "external" } ], "mass": 41189.0, "length": 364, "protein_name": "Zinc finger protein 589", "gene_name": "ZNF589", "organism": "Human", "refseq_name": "zinc finger protein 589", "refseq_ac": [ { "id": "NP_057173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057173", "type": "external" } ], "gene_names_uniprotkb": "ZNF589; SZF1", "gene_names_refseq": "SZF1; ZNF589", "protein_names_uniprotkb": "Zinc finger protein 589; Stem cell zinc finger protein 1", "protein_names_refseq": "KRAB-zinc finger protein SZF1-1; stem cell zinc finger 1; stem cell zinc finger protein 1; zinc finger protein 589", "tax_id": 9606, "disease": "", "pathway": " (hsa:51385); (R-HSA-212436)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10029171;10235266;10330177;11237011;11395415;12097288;14519192;15175151;15896744;16606702;16719718;18691976;19664994;19664995;2163759;23665872;26738774;26992070;28218747;29437277;29786170;31154438;31844290;32897882;33298915;33730092;33936100;35561310;8183939;8769649;9637681;9653119", "class_list": "", "function": "A heterochromatin inducing protein differentially recognizes self versus foreign genomes. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in hematopoietic stem/progenitor cell differentiation. May play a role as a DNA binding-dependent transcriptional repressor., [UniProtKB, PubMed, PubMed]; The stem cell zinc finger 1 (SZF1)/ZNF589 protein has a human-specific evolutionary nucleotide DNA change and acts as a regulator of cell viability in the hematopoietic system, [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": 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": "Q86UC9;Q9BRI6;Q9BRY3;Q9Y611;Q9Y612", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion 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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q86UQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1J5-1", "uniprot_id": [ { "id": "WNT8A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1J5", "type": "external" } ], "mass": 38849.0, "length": 351, "protein_name": "Protein Wnt-8a", "gene_name": "WNT8A", "organism": "Human", "refseq_name": "protein Wnt-8a isoform 1 precursor", "refseq_ac": [ { "id": "NP_001287867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867", "type": "external" } ], "gene_names_uniprotkb": "WNT8A; WNT8D", "gene_names_refseq": "WNT8A; WNT8D", "protein_names_uniprotkb": "Protein Wnt-8a; Protein Wnt-8d", "protein_names_refseq": "WNT8d; protein Wnt-8a isoform 1 precursor; protein Wnt-8a; protein Wnt-8d; wingless-type MMTV integration site family, member 8A", "tax_id": 9606, "disease": "", "pathway": " (hsa:7478); (R-HSA-201681); (R-HSA-3238698); (R-HSA-373080); (R-HSA-4641262)", "pathway_count": 5, "publication_count": 146, "publication_id_list": "10097073;10198061;10421629;10428961;10481074;10581160;10684251;10694878;10698523;11029007;11031247;11231171;11237011;11297558;11336703;11357136;11408932;11433298;11448771;11493532;11707456;11738041;11861647;11956596;12098667;12205098;12223464;12554650;12559132;12717451;14636582;14731402;14981260;15073180;15084453;15208637;15454084;15459103;15498814;15681612;16082208;16116452;16280981;16341016;16341017;16364628;16554443;16602827;16645052;16678095;16678096;16723543;16890161;16971168;17108000;17117926;17141155;17143292;17234765;17318175;17397399;17529994;17569865;18077588;18160347;18160348;18193032;18193037;18339531;18362152;18413325;18423204;18430724;18606139;18801728;19000841;19061640;19107203;19442504;19566487;19619488;19802005;19837038;20004982;20477987;20533886;20826466;20966082;21183070;21183076;21252990;21383061;21554866;21725318;21725319;21768372;21875946;21886182;22000856;22014570;22027831;22041890;22046319;22094269;22094272;22108505;22411803;22653731;22773843;22784633;22888000;22952392;22983114;23074275;23148298;23256519;23260141;23791946;23836442;30060804;31154438;33357447;35051231;35580925;3616618;6950381;7797535;8082781;8167409;8198617;8262072;8386612;8397094;8557170;8612563;8732687;8770894;8906787;8985181;9034327;9064337;9135132;9391096;9482734;9501980;9635432", "class_list": "", "function": "Expression and regulation of WNT8A mRNA in human tumor cell lines, [RefSeq, PubMed]; Here, we show that Wnt/planar cell polarity (PCP) autocrine signaling controls the emergence of cytonemes, and that cytonemes subsequently control paracrine Wnt/beta-catenin signal activation. Upon binding of the Wnt family member Wnt8a, the receptor tyrosine kinase Ror2 becomes activated. Publication Status: Online-Only, [RefSeq, PubMed]; Ligand for members of the frizzled family of seven transmembrane receptors., [UniProtKB, UniProtKB]; Ligand for members of the frizzled family of seven transmembrane receptors. Plays a role in embryonic patterning., [UniProtKB, UniProtKB]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Structural Basis of WLS/Evi-Mediated Wnt Transport and Secretion., [RefSeq, PubMed]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]., [RefSeq]; The WNT8A gene is involved in the susceptibility to HSCR, and plays an important role in the occurrence and development of Hirschsprung's disease., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "D6RF47;Q96S51", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032526 response to retinoic acid;GO:0030182 neuron differentiation;GO:0060070 canonical Wnt signaling pathway;GO:0014034 neural crest cell fate commitment", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q9H1J5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DK2-1", "uniprot_id": [ { "id": "ZFY26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DK2", "type": "external" } ], "mass": 284603.0, "length": 2539, "protein_name": "Zinc finger FYVE domain-containing protein 26", "gene_name": "ZFYVE26", "organism": "Human", "refseq_name": "zinc finger FYVE domain-containing protein 26", "refseq_ac": [ { "id": "NP_056161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056161", "type": "external" } ], "gene_names_uniprotkb": "ZFYVE26; KIAA0321", "gene_names_refseq": "FYVE-CENT; SPG15; ZFYVE26", "protein_names_uniprotkb": "Zinc finger FYVE domain-containing protein 26; FYVE domain-containing centrosomal protein; FYVE-CENT; Spastizin", "protein_names_refseq": "FYVE domain-containing centrosomal protein; spastizin; zinc finger FYVE domain-containing protein 26; zinc finger, FYVE domain containing 26", "tax_id": 9606, "disease": "hereditary spastic paraplegia 15 (Disease Ontology:DOID:0110768)", "pathway": " (hsa:23503)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;16959974;17661097;17924679;18332254;18394578;18669648;18691976;19084844;19805727;20208530;20613862;21455500;23186163;23481700;26375851;28218747;28228285;28832583;28834231;29242379;29508533;29632046;29632711;29786170;30315122;30429286;32387766;33771085;33936100;35494241;36315648;37074911;37938771;38253038", "class_list": "", "function": "Autosomal recessive HSP-TCC is a frequent subtype of complicated HSP in Tunisia and is clinically and genetically heterogeneous. SPG11 and SPG15 are the major loci for this entity., [RefSeq, PubMed]; Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families., [RefSeq, PubMed]; Phenotypic heterogeneity of SPG15 in which mental retardation or cognitive deterioration, but not all other signs of Kjellin syndrome, are associated with hereditary spastic paraplegia and significantly reduces the SPG15 locus, [RefSeq, PubMed]; Phosphatidylinositol 3-phosphate-binding protein required for the abscission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abscission. May also be required for efficient homologous recombination DNA double-strand break repair., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15., [RefSeq, PubMed]; This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 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": 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": 18, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 68, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B1B5Y3;B4E2U3;O15035;Q68DT9;Q6AW90;Q6ZR50;Q7Z3A4;Q7Z3I1;Q8N4W7;Q96H43", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0005769 early endosome;GO:0005813 centrosome;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0005770 late endosome", "go_biological_process": "GO:0097753 membrane bending;GO:0007040 lysosome organization;GO:0000281 mitotic cytokinesis;GO:0000724 double-strand break repair via homologous recombination;GO:0097212 lysosomal membrane organization", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q68DK2-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15911-1", "uniprot_id": [ { "id": "ZFHX3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15911", "type": "external" } ], "mass": 404419.0, "length": 3703, "protein_name": "Zinc finger homeobox protein 3", "gene_name": "ZFHX3", "organism": "Human", "refseq_name": "zinc finger homeobox protein 3 isoform B", "refseq_ac": [ { "id": "NP_001158238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158238", "type": "external" } ], "gene_names_uniprotkb": "ZFHX3; ATBF1; C16orf47", "gene_names_refseq": "ATBF1; ATBT; ATFB8; C16orf47; EIG20; SCA4; ZFH-3; ZFHX3; ZNF927", "protein_names_uniprotkb": "Zinc finger homeobox protein 3; AT motif-binding factor 1; AT-binding transcription factor 1; Alpha-fetoprotein enhancer-binding protein; ZFH-3; Zinc finger homeodomain protein 3", "protein_names_refseq": "AT motif-binding factor 1; AT-binding transcription factor 1; alpha-fetoprotein enhancer binding protein; zinc finger homeobox protein 3 isoform B; zinc finger homeobox protein 3; zinc finger homeodomain protein 3", "tax_id": 9606, "disease": "familial atrial fibrillation (Disease Ontology:DOID:0050650); spinocerebellar ataxia 4 (Disease Ontology:DOID:0050957); prostate cancer (Disease Ontology:DOID:10283); breast cancer (Disease Ontology:DOID:1612); autoimmune hepatitis (Disease Ontology:DOID:2048); mucinous adenocarcinoma (Disease Ontology:DOID:3030); breast carcinoma (Disease Ontology:DOID:3459); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung adenocarcinoma (Disease Ontology:DOID:3910); cervical cancer (Disease Ontology:DOID:4362); tubular adenocarcinoma (Disease Ontology:DOID:4929); hepatocellular carcinoma (Disease Ontology:DOID:684); hepatoblastoma (Disease Ontology:DOID:687); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970); epilepsy, idiopathic generalized 20 (MONDO:MONDO:0980988)", "pathway": " (hsa:463); (R-HSA-8941855)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10531362;11312261;14715251;16135801;17081983;1719379;17330845;17525332;18088087;18452278;18669648;19413330;19597491;19597492;20068231;20353948;20599712;20720010;21606357;22452784;23145062;23186163;23481700;24275569;24651376;25105025;25576301;25645385;26154972;26758079;28254787;28904123;29237092;29242379;29351928;29393594;29557506;29786170;30059200;30315122;30379171;30429286;30524438;31092671;31154438;31217245;31492838;31844290;31848261;32157095;32357974;32387766;32488085;32574038;32897882;32938616;32983136;33392160;33592498;33912179;33968037;33981976;34019948;34171305;34185709;34509645;34561969;34846842;35051231;35132862;35254053;35289036;35513511;35580925;36010968;36241641;36284347;37340703;37449401;37541260;37938771;38035881;38412861;38508705;38665916;38973251;39531497;39534244;7592926", "class_list": "", "function": "Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability., [RefSeq, PubMed]; Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs., [RefSeq, PubMed]; This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]; Transcriptional regulator which can act as an activator or a repressor. Inhibits the enhancer element of the AFP gene by binding to its AT-rich core sequence. In concert with SMAD-dependent TGF-beta signaling can repress the transcription of AFP via its interaction with SMAD2/3 (PubMed:25105025). Regulates the circadian locomotor rhythms via transcriptional activation of neuropeptidergic genes which are essential for intercellular synchrony and rhythm amplitude in the suprachiasmatic nucleus (SCN) of the brain (By similarity). Regulator of myoblasts differentiation through the binding to the AT-rich sequence of MYF6 promoter and promoter repression (PubMed:11312261). Down-regulates the MUC5AC promoter in gastric cancer (PubMed:17330845). In association with RUNX3, up-regulates CDKN1A promoter activity following TGF-beta stimulation (PubMed:20599712). Inhibits estrogen receptor (ESR1) function by selectively competing with coactivator NCOA3 for binding to ESR1 in ESR1-positive breast cancer cells (PubMed:20720010)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes. Publication Status: Online-Only, [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": 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": 32, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 211, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "D3DWS8;O15101;Q13719;Q6ZP98", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016604 nuclear body;GO:0005667 transcription regulator complex", "go_biological_process": "GO:1904059 regulation of locomotor rhythm;GO:0071559 response to transforming growth factor beta;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q15911-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NJ3-1", "uniprot_id": [ { "id": "ZN285_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NJ3", "type": "external" } ], "mass": 68135.0, "length": 590, "protein_name": "Zinc finger protein 285", "gene_name": "ZNF285", "organism": "Human", "refseq_name": "zinc finger protein 285 isoform a", "refseq_ac": [ { "id": "NP_001278417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278417", "type": "external" } ], "gene_names_uniprotkb": "ZNF285; ZNF285A", "gene_names_refseq": "ZNF285A; ZNF285", "protein_names_uniprotkb": "Zinc finger protein 285; Zinc finger protein 285A", "protein_names_refseq": "zinc finger protein 285 isoform a; zinc finger protein 285A", "tax_id": 9606, "disease": "", "pathway": " (hsa:26974); (R-HSA-212436)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;34846842;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q17RJ3;Q6B0A8;Q6ISR5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;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": 1.8, "record_id": "Q96NJ3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YA3-1", "uniprot_id": [ { "id": "ZGRF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YA3", "type": "external" } ], "mass": 236602.0, "length": 2104, "protein_name": "5'-3' DNA helicase ZGRF1", "gene_name": "ZGRF1", "organism": "Human", "refseq_name": "5'-3' DNA helicase ZGRF1 isoform 1", "refseq_ac": [ { "id": "NP_060862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060862", "type": "external" } ], "gene_names_uniprotkb": "ZGRF1; C4orf21", "gene_names_refseq": "C4orf21; ZGRF1", "protein_names_uniprotkb": "5'-3' DNA helicase ZGRF1; 5.6.2.3; GRF-type zinc finger domain-containing protein 1", "protein_names_refseq": "5'-3' DNA helicase ZGRF1 isoform 1; 5'-3' DNA helicase ZGRF1; GRF-type zinc finger domain-containing protein 1; protein ZGRF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55345)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;20332099;23186163;23481700;24715725;25645385;25892735;26154972;26599207;26992070;27846572;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29557506;29769354;29786170;30315122;30410026;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32640219;32897882;32938616;33141586;33691108;33912179;33936100;33968037;34171305;34509645;34552057;34932366;35051231;35580925;36010968;36215666;36241641;38253038", "class_list": "", "function": "5'-3' DNA helicase which is recruited to sites of DNA damage and promotes repair of replication-blocking DNA lesions through stimulation of homologous recombination (HR) (PubMed:32640219, PubMed:34552057). Promotes HR by directly stimulating RAD51-mediated strand exchange activity (PubMed:32640219). Not required to load RAD51 at sites of DNA damage but promotes recombinational repair after RAD51 recruitment (PubMed:32640219). Also promotes HR by positively regulating EXO1-mediated DNA end resection of double-strand breaks (PubMed:34552057). Required for recruitment of replication protein RPA2 to DNA damage sites (PubMed:34552057). Promotes the initiation of the G2/M checkpoint but not its maintenance (PubMed:34552057). Catalyzes Holliday junction branch migration and dissociation of D-loops and DNA flaps (PubMed:32640219)., [UniProtKB, PubMed, 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 ZGRF1 Helicase Promotes Recombinational Repair of Replication-Blocking DNA Damage in Human Cells., [RefSeq, PubMed]; The encoded protein contains GRF zinc finger (zf-GRF) and transmembrane domains. GRF zinc fingers are found in a number of DNA-binding proteins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2017]., [RefSeq]; Two novel loci IDH1 and ZGRF1 are associated with adiposity. [meta-analysis] 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": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 46, "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": "B3KQX2;B4DSN6;B4DYU8;E9PDE1;G5EA02;Q6ZU11;Q9NSW3;Q9NUJ4", "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:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0043139 5'-3' DNA helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0035861 site of double-strand break", "go_biological_process": "GO:0006302 double-strand break repair;GO:0000725 recombinational repair", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q86YA3-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60281-1", "uniprot_id": [ { "id": "ZN292_HUMAN", "url": "https://www.uniprot.org/uniprot/O60281", "type": "external" } ], "mass": 304816.0, "length": 2723, "protein_name": "Zinc finger protein 292", "gene_name": "ZNF292", "organism": "Human", "refseq_name": "zinc finger protein 292 isoform 1", "refseq_ac": [ { "id": "NP_055836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055836", "type": "external" } ], "gene_names_uniprotkb": "ZNF292; KIAA0530", "gene_names_refseq": "MRD63; MRD64; Nbla00365; ZFP292; ZN-16; ZNF292; Zn-15; bA393I2.3", "protein_names_uniprotkb": "Zinc finger protein 292", "protein_names_refseq": "16 zinc-finger domain protein; putative protein product of Nbla00365; zinc finger protein 292 isoform 1", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 64 (Disease Ontology:DOID:0061037)", "pathway": " (hsa:23036)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11237011;17525332;19413330;19690332;20068231;22645359;23481700;24714562;25559195;25576301;26154972;26992070;27150435;27846572;28218747;28228285;28411811;28514659;28832583;28904123;29242379;29351928;29393594;29437277;29493099;29557506;29632711;29786170;30192525;30410026;30484775;30524438;31154438;31217245;31530632;31723249;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33851769;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34561969;34789007;34932366;35051231;35251023;35318648;35580925;36010968;36241641;37726500;37938771;39531497", "class_list": "", "function": "Based on this, the ZNF292 frameshift mutations may possibly contribute to tumorigenesis by altering its tumor suppressor gene functions in gastric and colorectal cancers., [RefSeq, PubMed]; Circular RNA circZNF292 regulates H2 O2 -induced injury in human lens epithelial HLE-B3 cells depending on the regulation of the miR-222-3p/E2F3 axis., [RefSeq, PubMed]; De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder., [RefSeq, PubMed]; Locus-Conserved Circular RNA cZNF292 Controls Endothelial Cell Flow Responses., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The role of exosomal circular RNA ZNF292 in intermittent hypoxia-induced AC16 cardiomyocytes injury., [RefSeq, PubMed]; This gene encodes a growth hormone-dependent, zinc finger transcription factor that functions as a tumor suppressor. Naturally occurring mutations in this gene are associated with gastric cancer, colorectal cancer, and chronic lymphocytic leukemia. [provided by RefSeq, May 2017]., [RefSeq]; ZNF292 is a new tumor-suppressor gene with potential relevance to colorectal cancer., [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 98, "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": "Q5W0B2;Q7Z3L7;Q9H8G3;Q9H8J4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion 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_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "O60281-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAV4-1", "uniprot_id": [ { "id": "XPO5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAV4", "type": "external" } ], "mass": 136311.0, "length": 1204, "protein_name": "Exportin-5", "gene_name": "XPO5", "organism": "Human", "refseq_name": "exportin-5", "refseq_ac": [ { "id": "NP_065801", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065801", "type": "external" } ], "gene_names_uniprotkb": "XPO5; KIAA1291; RANBP21", "gene_names_refseq": "XPO5; exp5", "protein_names_uniprotkb": "Exportin-5; Exp5; Ran-binding protein 21", "protein_names_refseq": "exportin-5; ran-binding protein 21", "tax_id": 9606, "disease": "breast cancer (Disease Ontology:DOID:1612); transitional cell carcinoma (Disease Ontology:DOID:2671); lung non-small cell carcinoma (Disease Ontology:DOID:3908); lung small cell carcinoma (Disease Ontology:DOID:5409); primary ovarian insufficiency (Disease Ontology:DOID:5426); hepatocellular carcinoma (Disease Ontology:DOID:684); colorectal cancer (Disease Ontology:DOID:9256); multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:57510); (R-HSA-203927)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "11201747;11237011;11452083;11777942;12411504;12411505;12426392;12426393;12509441;14508493;14570900;14631048;14681208;14730017;15254228;15284456;15364901;15372072;15525708;15531877;15574589;15613540;15973356;16142218;16271386;16357216;16424907;17057362;17099701;17452327;17531811;17932509;18178619;18691976;18728384;18782830;18842624;19124606;19401777;19608861;19965479;19966796;20068231;21726814;22106413;22163034;22223895;22424782;22844086;22898188;23063121;23063653;23251028;23301498;23481700;23511973;23531496;23624860;23661684;24715725;25326327;25568082;25576301;25645385;25793518;25810538;25880248;25892735;26154972;26375851;26878725;26992070;27600516;27846390;27846572;27862975;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30429286;30484775;30524438;30779550;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34509645;34725712;34855193;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36371311;36475596;36581221;37217939;37311119;37655623;38665916;40914422", "class_list": "", "function": "(Microbial infection) Mediates the nuclear export of adenovirus VA1 dsRNA., [UniProtKB, PubMed]; Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Modulate miRNA Biogenesis through Aberrant Interactions with Exportin 5., [RefSeq, PubMed]; Eukaryotic elongation factor 1A (eEF1A) and tRNA are RanGTP-dependent binding partners of exportin-5 (Exp5). Exp5 stimulates nuclear export of eEF1A and tRNA., [RefSeq, PubMed]; Exp5 exports eEF1A via tRNA from nuclei and synergizes with other transport pathways to confine translation to the cytoplasm., [RefSeq, PubMed]; Investigation of the association of the RAN (rs14035) and XPO5 (rs11077) polymorphisms with venous thromboembolism. Publication Status: Online-Only, [RefSeq, PubMed]; Lipid kinase PIP5K1A regulates let-7 microRNA biogenesis through interacting with nuclear export protein XPO5., [RefSeq, PubMed]; Mediates the nuclear export of micro-RNA precursors, which form short hairpins (PubMed:14631048, PubMed:14681208, PubMed:15613540). Also mediates the nuclear export of synthetic short hairpin RNAs used for RNA interference. In some circumstances can also mediate the nuclear export of deacylated and aminoacylated tRNAs. Specifically recognizes dsRNAs that lack a 5'-overhang in a sequence-independent manner, have only a short 3'-overhang, and that have a double-stranded length of at least 15 base-pairs (PubMed:19965479). Binding is dependent on Ran-GTP (PubMed:19965479)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Mediates the nuclear export of proteins bearing a double-stranded RNA binding domain (dsRBD) and double-stranded RNAs (cargos). XPO5 in the nucleus binds cooperatively to the RNA and to the GTPase Ran in its active GTP-bound form. Proteins containing dsRBDs can associate with this trimeric complex through the RNA. Docking of this complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause disassembly of the complex and release of the cargo from the export receptor. XPO5 then returns to the nuclear compartment by diffusion through the nuclear pore complex, to mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Overexpression may in some circumstances enhance RNA-mediated gene silencing (RNAi). Mediates nuclear export of isoform 5 of ADAR/ADAR1 in a RanGTP-dependent manner., [UniProtKB]; Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; The impact of Dicer, Drosha, and Exportin-5 levels in polycystic ovary syndrome (PCOS) diagnosis and phenotyping., [RefSeq, PubMed]; This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 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": 9, "reported_mutagensis": 0, "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": "Q5JTE6;Q96G48;Q96HN3;Q9BWM6;Q9BZV5;Q9H9M4;Q9NT89;Q9NW39;Q9ULC9", "ec_number_list": [], "go_molecular_function": "GO:1905172 RISC complex binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0000049 tRNA binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016442 RISC complex", "go_biological_process": "GO:0010586 miRNA metabolic process;GO:0006611 protein export from nucleus;GO:0006405 RNA export from nucleus;GO:0035281 pre-miRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9HAV4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XD8-1", "uniprot_id": [ { "id": "ZFAN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XD8", "type": "external" } ], "mass": 80358.0, "length": 727, "protein_name": "AN1-type zinc finger protein 4", "gene_name": "ZFAND4", "organism": "Human", "refseq_name": "AN1-type zinc finger protein 4 isoform b", "refseq_ac": [ { "id": "NP_001269835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269835", "type": "external" } ], "gene_names_uniprotkb": "ZFAND4; ANUBL1", "gene_names_refseq": "ANUBL1; ZFAND4", "protein_names_uniprotkb": "AN1-type zinc finger protein 4; AN1-type zinc finger and ubiquitin domain-containing protein-like 1", "protein_names_refseq": "AN1, ubiquitin-like, homolog; AN1-type zinc finger and ubiquitin domain-containing protein 1; AN1-type zinc finger and ubiquitin domain-containing protein-like 1; AN1-type zinc finger protein 4 isoform b; AN1-type zinc finger protein 4; zinc finger, AN1-type domain 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:93550)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16385451;19139490;23481700;25682742;28832583;29074611;29508533;30379171;32357974;33392160", "class_list": "", "function": "In gastric cancer cells, ANUBL1 was upregulated and promoted proliferation of SGC-7901 cells. Over-expression decreased miR-182 expression. ANUBL1 expression was in turn directly downregulated by miR-182 in a negative feedback loop., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Suggest that ZFAND4 is a useful marker for predicting metastasis and poor prognosis in patients with oral squamous cell 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K8V4;B2RAX2;Q5VVY5", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q86XD8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWY8-1", "uniprot_id": [ { "id": "ZSC29_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWY8", "type": "external" } ], "mass": 96719.0, "length": 852, "protein_name": "Zinc finger and SCAN domain-containing protein 29", "gene_name": "ZSCAN29", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 29", "refseq_ac": [ { "id": "NP_689668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689668", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN29; ZNF690", "gene_names_refseq": "ZNF690; ZSCAN29; Zfp690", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 29; Zinc finger protein 690", "protein_names_refseq": "KOX31-like zinc finger protein; zinc finger and SCAN domain-containing protein 29; zinc finger protein 690", "tax_id": 9606, "disease": "", "pathway": " (hsa:146050)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;12434312;18452278;18669648;23186163;23481700;24275569;26375851;26992070;27862975;28218747;28228285;28832583;28904123;29242379;29493099;29508533;29557506;30410026;30429286;30833945;31844290;32157095;32502341;32897882;32938616;32983136;33912179;33936100;34171305;34561969;34932366;35051231;36284347", "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": 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": "B3KVB9;Q32M75;Q32M76;Q8NA40", "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:1990837 sequence-specific double-stranded DNA binding;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", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8IWY8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5A9-1", "uniprot_id": [ { "id": "YTHD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5A9", "type": "external" } ], "mass": 62334.0, "length": 579, "protein_name": "YTH domain-containing family protein 2", "gene_name": "YTHDF2", "organism": "Human", "refseq_name": "YTH domain-containing family protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001166299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166299", "type": "external" } ], "gene_names_uniprotkb": "YTHDF2; HGRG8", "gene_names_refseq": "CAHL; DF2; HGRG8; NY-REN-2; YTHDF2", "protein_names_uniprotkb": "YTH domain-containing family protein 2; CLL-associated antigen KW-14; DF2; High-glucose-regulated protein 8; Renal carcinoma antigen NY-REN-2", "protein_names_refseq": "9430020E02Rik; CLL-associated antigen KW-14; YTH N(6)-methyladenosine RNA binding protein 2; YTH N6-methyladenosine RNA binding protein 2; YTH domain family, member 2; YTH domain-containing family protein 2 isoform 2; YTH domain-containing family protein 2; high-glucose-regulated protein 8; renal carcinoma antigen NY-REN-2", "tax_id": 9606, "disease": "disease of metabolism (Disease Ontology:DOID:0014667)", "pathway": " (hsa:51441)", "pathway_count": 1, "publication_count": 149, "publication_id_list": "10508479;11237011;12042320;15104674;15275975;15592455;15944288;16799135;16964243;18691976;19608861;19651622;19664994;20058876;20068231;21406692;22575960;23186163;23481700;24206186;24284625;24397554;24715725;25412658;25412661;25418920;25576301;25810538;25880248;25892735;26046440;26154972;26318451;26375851;26458103;26811146;26929215;26992070;27558897;27600516;27846572;27862975;27920218;28106072;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29109479;29242379;29331515;29351928;29393594;29437277;29447282;29485866;29493099;29508533;29557506;29632046;29632711;29659627;29769354;29786170;30065315;30315122;30410026;30428350;30429286;30484775;30559377;30779550;30833945;30930054;31092671;31154438;31217245;31222486;31292544;31388144;31530632;31642031;31815440;31844290;31848261;31937595;31998317;32157095;32161166;32169943;32265295;32267835;32357974;32387766;32451507;32488085;32492408;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33420027;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34171305;34185709;34211107;34229054;34561969;34725712;34932366;35051231;35132862;35138101;35154160;35254053;35318648;35580925;36010968;36215666;36241641;36284347;36765030;38253038;38636894;38665916;38820140;38830447;38832511;38977346;39425013;39531497;39534244;40596516", "class_list": "", "function": "(Microbial infection) Promotes viral gene expression and replication of polyomavirus SV40: acts by binding to N6-methyladenosine (m6A)-containing viral RNAs (PubMed:29447282)., [UniProtKB, PubMed]; (Microbial infection) Promotes viral gene expression and virion production of kaposis sarcoma-associated herpesvirus (KSHV) at some stage of the KSHV life cycle (in iSLK.219 and iSLK.BAC16 cells) (PubMed:29659627). Acts by binding to N6-methyladenosine (m6A)-containing viral RNAs (PubMed:29659627)., [UniProtKB, PubMed]; BCLAF1 drives esophageal squamous cell carcinoma progression through regulation of YTHDF2-dependent SIX1 mRNA degradation., [RefSeq, PubMed]; PMID:10508479 reported that AF155095 (clone REN-2) may be involved in signal transduction and the gene is on chromosome 14. It turns out that it is the pseudogene, not the real gene, is located on chromosome 14., [RefSeq, PubMed]; Smooth Muscle Ythdf2 Abrogation Ameliorates Pulmonary Vascular Remodeling by Regulating Myadm Transcript Stability., [RefSeq, PubMed]; Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, and regulates their stability (PubMed:24284625, PubMed:26046440, PubMed:26318451, PubMed:32492408). M6A is a modification present at internal sites of mRNAs and some non-coding RNAs and plays a role in mRNA stability and processing (PubMed:22575960, PubMed:24284625, PubMed:25412658, PubMed:25412661, PubMed:32492408). Acts as a regulator of mRNA stability by promoting degradation of m6A-containing mRNAs via interaction with the CCR4-NOT and ribonuclease P/MRP complexes, depending on the context (PubMed:24284625, PubMed:26046440, PubMed:27558897, PubMed:30930054, PubMed:32492408). The YTHDF paralogs (YTHDF1, YTHDF2 and YTHDF3) share m6A-containing mRNAs targets and act redundantly to mediate mRNA degradation and cellular differentiation (PubMed:28106072, PubMed:32492408). M6A-containing mRNAs containing a binding site for RIDA/HRSP12 (5'-GGUUC-3') are preferentially degraded by endoribonucleolytic cleavage: cooperative binding of RIDA/HRSP12 and YTHDF2 to transcripts leads to recruitment of the ribonuclease P/MRP complex (PubMed:30930054). Other m6A-containing mRNAs undergo deadenylation via direct interaction between YTHDF2 and CNOT1, leading to recruitment of the CCR4-NOT and subsequent deadenylation of m6A-containing mRNAs (PubMed:27558897). Required maternally to regulate oocyte maturation: probably acts by binding to m6A-containing mRNAs, thereby regulating maternal transcript dosage during oocyte maturation, which is essential for the competence of oocytes to sustain early zygotic development (By similarity). Also required during spermatogenesis: regulates spermagonial adhesion by promoting degradation of m6A-containing transcripts coding for matrix metallopeptidases (By similarity). Also involved in hematopoietic stem cells specification by binding to m6A-containing mRNAs, leading to promote their degradation (PubMed:30065315). Also acts as a regulator of neural development by promoting m6A-dependent degradation of neural development-related mRNA targets (By similarity). Inhibits neural specification of induced pluripotent stem cells by binding to methylated neural-specific mRNAs and promoting their degradation, thereby restraining neural differentiation (PubMed:32169943). Regulates circadian regulation of hepatic lipid metabolism: acts by promoting m6A-dependent degradation of PPARA transcripts (PubMed:30428350). Regulates the innate immune response to infection by inhibiting the type I interferon response: acts by binding to m6A-containing IFNB transcripts and promoting their degradation (PubMed:30559377). May also act as a promoter of cap-independent mRNA translation following heat shock stress: upon stress, relocalizes to the nucleus and specifically binds mRNAs with some m6A methylation mark at their 5'-UTR, protecting demethylation of mRNAs by FTO, thereby promoting cap-independent mRNA translation (PubMed:26458103). Regulates mitotic entry by promoting the phase-specific m6A-dependent degradation of WEE1 transcripts (PubMed:32267835). Promotes formation of phase-separated membraneless compartments, such as P-bodies or stress granules, by undergoing liquid-liquid phase separation upon binding to mRNAs containing multiple m6A-modified residues: polymethylated mRNAs act as a multivalent scaffold for the binding of YTHDF proteins, juxtaposing their disordered regions and thereby leading to phase separation (PubMed:31292544, PubMed:31388144, PubMed:31642031, PubMed:32451507). The resulting mRNA-YTHDF complexes then partition into different endogenous phase-separated membraneless compartments, such as P-bodies, stress granules or neuronal RNA granules (PubMed:31292544). May also recognize and bind RNAs modified by C5-methylcytosine (m5C) and act as a regulator of rRNA processing (PubMed:31815440)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The tumor-intrinsic role of the m[6]A reader YTHDF2 in regulating immune evasion., [RefSeq, PubMed]; This gene encodes a member of the YTH (YT521-B homology) superfamily containing YTH domain. The YTH domain is typical for the eukaryotes and is particularly abundant in plants. The YTH domain is usually located in the middle of the protein sequence and may function in binding to RNA. In addition to a YTH domain, this protein has a proline rich region which may be involved in signal transduction. An Alu-rich domain has been identified in one of the introns of this gene, which is thought to be associated with human longevity. In addition, reciprocal translocations between this gene and the Runx1 (AML1) gene on chromosome 21 has been observed in patients with acute myeloid leukemia. This gene was initially mapped to chromosome 14, which was later turned out to be a pseudogene. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Oct 2012]., [RefSeq]; YTHDF2 messenger RNA resulted to be mainly expressed in testis and placenta. The data suggest a possible role of this locus in human longevity. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; YTHDF2 regulates MSS51 expression contributing to mitochondria dysfunction of granulosa cells in polycystic ovarian syndrome patients., [RefSeq, PubMed]; [Porphyromonas gingivalis infection facilitates immune escape of esophageal cancer by enhancing YTHDF2-mediated Fas degradation]., [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": 11, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6NKG4;A8K966;B4E1G7;D3DPM8;Q5VSZ9;Q8TDH0;Q9BUJ5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:1990247 N6-methyladenosine-containing RNA reader activity;GO:0062153 C5-methylcytidine-containing RNA reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000932 P-body;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:1903679 positive regulation of cap-independent translational initiation;GO:2000232 regulation of rRNA processing;GO:0030155 regulation of cell adhesion;GO:0045087 innate immune response;GO:0043488 regulation of mRNA stability", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q9Y5A9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JVG8-1", "uniprot_id": [ { "id": "ZN506_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JVG8", "type": "external" } ], "mass": 51537.0, "length": 444, "protein_name": "Zinc finger protein 506", "gene_name": "ZNF506", "organism": "Human", "refseq_name": "zinc finger protein 506 isoform 1", "refseq_ac": [ { "id": "NP_001092739", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092739", "type": "external" } ], "gene_names_uniprotkb": "ZNF506", "gene_names_refseq": "ZNF506", "protein_names_uniprotkb": "Zinc finger protein 506", "protein_names_refseq": "zinc finger protein 506 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:440515); (R-HSA-212436)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10235266;10330177;11230166;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;25645385;26992070;28063628;28832583;28834231;29242379;29393594;29493099;29557506;29632711;29786170;30013081;30315122;30379171;30779550;31154438;31217245;31844290;32157095;32938616;32983136;33592498;34185709;34357683;35580925;37697430;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Unraveling the role of ZNF506 as a human PBS-pro-targeting protein for ERVP repression., [RefSeq, PubMed]; ZNF506-dependent positive feedback loop regulates H2AX signaling after DNA damage. 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": 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": "B3KTH6", "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_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q5JVG8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7L7-1", "uniprot_id": [ { "id": "ZER1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7L7", "type": "external" } ], "mass": 88169.0, "length": 766, "protein_name": "Protein zer-1 homolog", "gene_name": "ZER1", "organism": "Human", "refseq_name": "protein zer-1 homolog isoform 1", "refseq_ac": [ { "id": "NP_006327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006327", "type": "external" } ], "gene_names_uniprotkb": "ZER1; C9orf60; ZYG11BL; ZYG", "gene_names_refseq": "C9orf60; ZER1; ZYG11BL; ZYG", "protein_names_uniprotkb": "Protein zer-1 homolog; Hzyg; Zyg-11 homolog B-like protein; Zyg11b-like protein", "protein_names_refseq": "ZYG homolog; protein zer-1 homolog isoform 1; protein zer-1 homolog; zyg-11 homolog B-like protein; zyg11b-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:10444)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11237011;11719588;17304241;19651622;23481700;24366607;24715725;25418920;25576301;25645385;25892735;26154972;26811146;26992070;27600516;27920218;28218747;28228285;28514659;28649982;28832583;28860189;28904123;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31222486;31273098;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33093214;33141586;33298915;33392160;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34185709;34214466;34357683;34405274;34509645;34561969;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36496439;37938771", "class_list": "", "function": "Molecular basis for recognition of Gly/N-degrons by CRL2(ZYG11B) and CRL2(ZER1)., [RefSeq, PubMed]; Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC (PubMed:17304241, PubMed:31273098). Acts to target substrates bearing N-terminal degrons for proteasomal degradation with the first four residues of substrates being the key recognition elements (PubMed:33093214, PubMed:34214466, PubMed:36496439). Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation (PubMed:31273098)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 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": 3, "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": "O00156;Q5T272;Q5T273", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q7Z7L7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3V5-1", "uniprot_id": [ { "id": "ZN571_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3V5", "type": "external" } ], "mass": 70792.0, "length": 609, "protein_name": "Zinc finger protein 571", "gene_name": "ZNF571", "organism": "Human", "refseq_name": "zinc finger protein 571", "refseq_ac": [ { "id": "NP_001277243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277243", "type": "external" } ], "gene_names_uniprotkb": "ZNF571; HSPC059", "gene_names_refseq": "HSPC059; ZNF571", "protein_names_uniprotkb": "Zinc finger protein 571", "protein_names_refseq": "zinc finger protein 571", "tax_id": 9606, "disease": "", "pathway": " (hsa:51276); (R-HSA-212436)", "pathway_count": 2, "publication_count": 18, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25892735;29557506;29769354;32157095;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": 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": "Q2HIY0;Q3ZCU3;Q9NZX7", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q7Z3V5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60688-1", "uniprot_id": [ { "id": "YPEL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60688", "type": "external" } ], "mass": 13575.0, "length": 119, "protein_name": "Protein yippee-like 1", "gene_name": "YPEL1", "organism": "Human", "refseq_name": "protein yippee-like 1", "refseq_ac": [ { "id": "NP_037445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037445", "type": "external" } ], "gene_names_uniprotkb": "YPEL1; FKSG3; YPEL", "gene_names_refseq": "FKSG3; YPEL1", "protein_names_uniprotkb": "Protein yippee-like 1", "protein_names_refseq": "DiGeorge syndrome-related protein; protein yippee-like 1", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:29799)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;15556292;18477386;22544926;23481700;25645385;26154972;26375851;27600516;28904123;29242379;29393594;29493099;29557506;29632711;29786170;29789417;30524438;31154438;31844290;31848261;32350084;32357974;32387766;33392160;37938771", "class_list": "", "function": "May play a role in epithelioid conversion of fibroblasts., [UniProtKB]; This gene is located in the region associated with DiGeorge syndrome on chromosome 22. The encoded protein localizes to the centrosome and nucleolus and may play a role in the regulation of cell division. [provided by RefSeq, Feb 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": 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": "Q65ZA1;Q6GLI6", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "O60688-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6U7Q0-1", "uniprot_id": [ { "id": "ZN322_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6U7Q0", "type": "external" } ], "mass": 46941.0, "length": 402, "protein_name": "Zinc finger protein 322", "gene_name": "ZNF322", "organism": "Human", "refseq_name": "zinc finger protein 322", "refseq_ac": [ { "id": "NP_001229726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229726", "type": "external" } ], "gene_names_uniprotkb": "ZNF322; ZNF322A; ZNF388; ZNF489", "gene_names_refseq": "HCG12; ZNF322A; ZNF322; ZNF388; ZNF489", "protein_names_uniprotkb": "Zinc finger protein 322; Zinc finger protein 322A; Zinc finger protein 388; Zinc finger protein 489", "protein_names_refseq": "HLA complex group 12; zinc finger protein 322A; zinc finger protein 322; zinc finger protein 388; zinc finger protein 489", "tax_id": 9606, "disease": "", "pathway": " (hsa:79692)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15555580;23186163;26279304;26992070;27600516;28581525;28832583;29242379;29351928;30258097;30429286;30779550;31092671;31154438;31399647;31844290;32157095;32161166;32488085;32576196;32929330;32983136;33592498;33912179;33981976;34932366;35051231;35318648;37647209;37938771", "class_list": "", "function": "Downregulation of microRNA-326 enhances ZNF322A expression, transcriptional activity and tumorigenic effects in lung cancer., [RefSeq, PubMed]; Dysregulated Kras/YY1/ZNF322A/Shh transcriptional axis enhances neo-angiogenesis to promote lung cancer progression. Publication Status: Online-Only, [RefSeq, PubMed]; Our results reveal a new mechanism of ZNF322A oncoprotein destruction regulated by the CK1delta/GSK3beta/FBXW7a axis. Deregulation of this signaling axis results in ZNF322A overexpression and promotes cancer progression, [RefSeq, PubMed]; Results reveal a new mechanism of AKT signaling in promoting ZNF322A protein stability and transcriptional activity in lung cancer cell, xenograft, and clinical models, [RefSeq, PubMed]; The ZNF322A-centered transcriptome promotes lung tumorigenesis and ZNF322A acts as a transcription suppressor of c-Myc to maintain lung cancer stem cell-like properties by shifting metabolism towards oxidative phosphorylation., [RefSeq, PubMed]; These results suggest that ZNF322 is a member of the zinc-finger transcription factor family and may act as a positive regulator in gene transcription mediated by the MAPK signaling pathways., [RefSeq, PubMed]; Transcriptional activator (PubMed:15555580). Important for maintenance of pluripotency in embryonic stem cells (By similarity). Binds directly to the POU5F1 distal enhancer and the NANOG proximal promoter, and enhances expression of both genes (By similarity). Can also bind to numerous other gene promoters and regulates expression of many other pluripotency factors, either directly or indirectly (By similarity). Promotes inhibition of MAPK signaling during embryonic stem cell differentiation (By similarity)., [UniProtKB, PubMed, UniProtKB]; ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008]., [RefSeq]; ZNF322A overexpression transcriptionally dysregulates genes involved in cell growth and motility therefore contributes to lung tumorigenesis and poor prognosis Erratum:[Oncogene. 2017 Aug;36(31):4526. doi: 10.1038/onc.2017.77. PMID: 28368404], [RefSeq, PubMed]; ZNF322A-mediated protein phosphorylation induces autophagosome formation through modulation of IRS1-AKT glucose uptake and HSP-elicited UPR in lung 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": 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": 0, "reported_glycation": 0, "reported_snv": 3, "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": "A8K1X3;Q0VDH6;Q6B0G2;Q86W72;Q9H5I9", "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:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1902459 positive regulation of stem cell population maintenance;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q6U7Q0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2T7-1", "uniprot_id": [ { "id": "YBOX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2T7", "type": "external" } ], "mass": 38518.0, "length": 364, "protein_name": "Y-box-binding protein 2", "gene_name": "YBX2", "organism": "Human", "refseq_name": "Y-box-binding protein 2", "refseq_ac": [ { "id": "NP_057066", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057066", "type": "external" } ], "gene_names_uniprotkb": "YBX2; CSDA3; MSY2", "gene_names_refseq": "CONTRIN; CSDA3; DBPC; MSY2; YBX2", "protein_names_uniprotkb": "Y-box-binding protein 2; Contrin; DNA-binding protein C; Dbpc; Germ cell-specific Y-box-binding protein; MSY2 homolog", "protein_names_refseq": "DNA-binding protein C; Y-box-binding protein 2; alternative protein YBX2; epididymis secretory sperm binding protein; germ cell specific Y-box binding protein", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:51087)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10100484;11237011;16479255;16624424;18160138;22121020;23481700;28121444;28904123;31731187;32938616;33298915;33602962;34019948;34932366;35156507;35364436;37030331;37217939;38253038", "class_list": "", "function": "Circular CDC like kinase 1 suppresses cell apoptosis through miR-18b-5p/Y-box protein 2 axis in oral squamous cell carcinoma., [RefSeq, PubMed]; LncRNA HOXA11-AS promotes OSCC progression by sponging miR-98-5p to upregulate YBX2 expression., [RefSeq, PubMed]; Major constituent of messenger ribonucleoprotein particles (mRNPs). Involved in the regulation of the stability and/or translation of germ cell mRNAs. Binds to Y-box consensus promoter element. Binds to full-length mRNA with high affinity in a sequence-independent manner. Binds to short RNA sequences containing the consensus site 5'-UCCAUCA-3' with low affinity and limited sequence specificity. Its binding with maternal mRNAs is necessary for its cytoplasmic retention. May mark specific mRNAs (those transcribed from Y-box promoters) in the nucleus for cytoplasmic storage, thereby linking transcription and mRNA storage/translational delay (By similarity)., [UniProtKB, UniProtKB]; NSD2 activates the E2F transcription factor 1/Y-box binding protein 2 axis to promote the malignant development of oral squamous cell carcinoma., [RefSeq, PubMed]; Provides first evidence showing dbpC highly expressed in human testicular seminoma and ovarian dysgerminomas, and in carcinomas in other tissues and that its expression in normal tissues is nearly restricted to germ cells and placental trophoblasts, [RefSeq, PubMed]; This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 2012]., [RefSeq]; Transcriptional regulation of Contrin was investigated, and the promoter region between -272 and -253 relative to the transcription start site was shown to be critical for the manifestation of cell-type specific transcription, [RefSeq, PubMed]; YBX2 and cancer testis antigen 45 contribute to stemness, chemoresistance and a high degree of malignancy in human endometrial cancer. Publication Status: Online-Only, [RefSeq, PubMed]; YBX2 modulates mRNA stability via interaction with YTHDF2 in endometrial cancer 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 10, "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": "D3DTP1;Q8N4P0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis;GO:0006366 transcription by RNA polymerase II;GO:0010468 regulation of gene expression;GO:0048599 oocyte development;GO:0120162 positive regulation of cold-induced thermogenesis", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9Y2T7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UP3-1", "uniprot_id": [ { "id": "ZFHX4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UP3", "type": "external" } ], "mass": 393730.0, "length": 3567, "protein_name": "Zinc finger homeobox protein 4", "gene_name": "ZFHX4", "organism": "Human", "refseq_name": "zinc finger homeobox protein 4 isoform 1", "refseq_ac": [ { "id": "NP_078997", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078997", "type": "external" } ], "gene_names_uniprotkb": "ZFHX4", "gene_names_refseq": "ZFH4; ZFHX4; ZHF4", "protein_names_uniprotkb": "Zinc finger homeobox protein 4; ZFH-4; Zinc finger homeodomain protein 4", "protein_names_refseq": "zinc finger homeobox protein 4 isoform 1; zinc finger homeobox protein 4; zinc-finger homeodomain protein 4", "tax_id": 9606, "disease": "spinocerebellar ataxia 4 (Disease Ontology:DOID:0050957); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:79776)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;11935336;16946494;18669648;24440720;25576301;25755297;25855136;26758079;26992070;27846572;28228285;28694483;28832583;28834231;29242379;29351928;30429286;30620550;31217245;31492838;32105524;32157095;32387766;32502341;32897882;32938616;33592498;33968037;33981976;34171305;34405274;35051231;35154160;35580925;35915456;36010968;36215666;36241641;37340703", "class_list": "", "function": "A bioinformatics analysis: ZFHX4 is associated with metastasis and poor survival in ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Human ZFH-4 is a candidate gene for congenital bilateral isolated ptosis, identified by molecular analysis of a de novo balanced translocation., [RefSeq, PubMed]; May play a role in neural and muscle differentiation (By similarity). May be involved in transcriptional regulation., [UniProtKB]; May play a role in neural and muscle differentiation. May be involved in transcriptional regulation., [UniProtKB, UniProtKB]; Prognostic Role of Zinc Finger Homeobox 4 in Ovarian Serous Cystadenocarcinoma., [RefSeq, PubMed]; Results showed that ZFHX4 was overexpressed in esophageal squamous cell carcinoma (ESCC) tumor compared to normal controls, and knockdown of ZFHX4 in vitro significantly inhibited cell migration and invasion. Mutations in ZFHX4 were strongly associated with poor prognosis and its down-regulation inhibits the progression of ESCC. Publication Status: Online-Only, [RefSeq, PubMed]; Rs28727938[G] is associated with susceptibility to cutaneous basal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; ZFHX4 interacts with and regulates CHD4., [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 73, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "G3V138;Q18PS0;Q6ZN20", "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:0046872 metal ion binding;GO:0003677 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": 4.7, "record_id": "Q86UP3-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RE9-1", "uniprot_id": [ { "id": "ZN300_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RE9", "type": "external" } ], "mass": 68743.0, "length": 604, "protein_name": "Zinc finger protein 300", "gene_name": "ZNF300", "organism": "Human", "refseq_name": "zinc finger protein 300 isoform 1", "refseq_ac": [ { "id": "NP_001166302", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166302", "type": "external" } ], "gene_names_uniprotkb": "ZNF300", "gene_names_refseq": "ZNF300", "protein_names_uniprotkb": "Zinc finger protein 300", "protein_names_refseq": "kruppel-like zinc finger protein; zinc finger protein 300 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:91975); (R-HSA-212436)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;14746915;15175151;15896744;16606702;16719718;17541838;18350257;2163759;23665872;25576301;28904123;30568000;32157095;33078469;33392160;35051231;35166026;39018766;8183939;8769649;9637681;9653119", "class_list": "", "function": "Cisplatin resistance and malignant behaviors of lung cancer cells are promoted by circ_0002360 via targeting miR-6751-3p to regulate the expression of ZNF300., [RefSeq, PubMed]; Has a transcriptional repressor activity., [UniProtKB, PubMed]; Results show that the ZNF300 gene encodes a 68-kDa nuclear protein that binds DNA in a sequence-specific manner., [RefSeq, PubMed]; The protein encoded by this gene is a C2H2-type zinc finger DNA binding protein and likely transcriptional regulator. The function of this protein is not yet known. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]., [RefSeq]; These results suggested that ZNF300 plays an important role in hepatic lipid metabolism via PPARalpha promoting fatty acid oxidation and this effect might be blocked by DNMT3a-mediated methylation of ZNF300. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF-300 and novel splice variant ZNF300-B are both expressed highly in human testis., [RefSeq, PubMed]; ZNF300 promotes chemoresistance and aggressive behaviour in non-small-cell lung cancer., [RefSeq, PubMed]; ZNF300 promotes proliferation and migration of hepatocellular carcinoma by upregulating c-MYC 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8MY91;B3KU35;B4DU78;F5GWS1;Q06DQ3;Q17RP3;Q5H9N5", "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: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:0005730 nucleolus", "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": 2.8, "record_id": "Q96RE9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VUA4-1", "uniprot_id": [ { "id": "ZN318_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VUA4", "type": "external" } ], "mass": 251112.0, "length": 2279, "protein_name": "Zinc finger protein 318", "gene_name": "ZNF318", "organism": "Human", "refseq_name": "zinc finger protein 318", "refseq_ac": [ { "id": "NP_055160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055160", "type": "external" } ], "gene_names_uniprotkb": "ZNF318; HRIHFB2436", "gene_names_refseq": "HRIHFB2436; TZF; ZFP318; ZNF318", "protein_names_uniprotkb": "Zinc finger protein 318; Endocrine regulatory protein", "protein_names_refseq": "endocrine regulatory protein; endocrine regulator; testicular zinc finger; zinc finger protein 318", "tax_id": 9606, "disease": "", "pathway": " (hsa:24149)", "pathway_count": 1, "publication_count": 103, "publication_id_list": "11237011;16446156;16959974;17081983;17322306;17525332;18077418;18452278;18669648;18767875;19413330;19651622;19664994;19664995;19690332;19691289;20068231;20220067;21406692;23186163;23301498;23481700;24275569;24715725;25469497;25505266;25576301;25645385;25772364;25880248;26375851;26992070;27600516;27846572;27869121;27920218;28063628;28218747;28832583;28834231;29237092;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29671580;29786170;30059200;30379171;30429286;31154438;31217245;31492838;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32574038;32938616;32938750;32983136;33298915;33592498;33691108;33717175;33968037;33981976;34019948;34087483;34171305;34211107;34509645;35051231;35132862;35251023;35254053;35289036;35580925;35705054;36010968;36215666;36241641;37541260;38665916;39302247;39531497;39534244;40136647;40307207;9853615", "class_list": "", "function": "Acts as a transcriptional coactivator for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division., [UniProtKB, UniProtKB]; Acts as a transcriptional corepressor for AR-mediated transactivation function. May act as a transcriptional regulator during spermatogenesis and, in particular, during meiotic division., [UniProtKB, UniProtKB]; In the unique regulation system of AR-mediated transactivation, two spliced isoforms of TZF act as coactivator and corepressor, respectively, [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": 19, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 51, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 71, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "O94796;Q4G0E4;Q8NEM6;Q9UNU8;Q9Y2W9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q5VUA4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q49AG3-1", "uniprot_id": [ { "id": "ZBED5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q49AG3", "type": "external" } ], "mass": 78911.0, "length": 693, "protein_name": "Zinc finger BED domain-containing protein 5", "gene_name": "ZBED5", "organism": "Human", "refseq_name": "zinc finger BED domain-containing protein 5", "refseq_ac": [ { "id": "NP_001137139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137139", "type": "external" } ], "gene_names_uniprotkb": "ZBED5; Buster1", "gene_names_refseq": "Buster1; ZBED5", "protein_names_uniprotkb": "Zinc finger BED domain-containing protein 5; Transposon-derived Buster1 transposase-like protein", "protein_names_refseq": "transposon-derived Buster1 transposase-like protein; zinc finger BED domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:58486)", "pathway_count": 1, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;10607616;11237011;19007248;20112406;22424782;22898188;23481700;24715725;25418920;25576301;25645385;25892735;26154972;26768311;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31844290;31937595;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;37938771", "class_list": "", "function": "This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "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": "B2RCC1;Q05D82;Q86WW3;Q9NT24;Q9UBJ4", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q49AG3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHY6-1", "uniprot_id": [ { "id": "ZFP28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHY6", "type": "external" } ], "mass": 98705.0, "length": 868, "protein_name": "Zinc finger protein 28 homolog", "gene_name": "ZFP28", "organism": "Human", "refseq_name": "zinc finger protein 28 homolog isoform 2", "refseq_ac": [ { "id": "NP_001295369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295369", "type": "external" } ], "gene_names_uniprotkb": "ZFP28; KIAA1431", "gene_names_refseq": "ZFP28; mkr5", "protein_names_uniprotkb": "Zinc finger protein 28 homolog; Krueppel-like zinc finger factor X6; Zfp-28", "protein_names_refseq": "krueppel-like zinc finger factor X6; zfp-28; zinc finger factor X6; zinc finger protein 28 homolog isoform 2; zinc finger protein 28 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:140612); (R-HSA-212436)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10235266;10330177;11237011;11395415;12127974;14519192;15175151;15896744;16606702;16719718;19329283;2163759;22299025;26992070;29557506;30379171;31848261;32157095;32938616;33968037;34171305;35051231;35561310;36010968;37217939;8183939;8769649;9637681;9653119", "class_list": "", "function": "Characterization of ZFP28 and its role in human development, [RefSeq, PubMed]; May be involved in transcriptional regulation. May have a role in embryonic development., [UniProtKB]; These results suggest that murine and human Zfp28/ZFP28 is correlated with the pathogenesis of melanoma., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "A0JNV6;K7ES88;Q8NHU8;Q9BY30;Q9P2B6", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q8NHY6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7M6-1", "uniprot_id": [ { "id": "ZSWM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7M6", "type": "external" } ], "mass": 110138.0, "length": 989, "protein_name": "Zinc finger SWIM domain-containing protein 4", "gene_name": "ZSWIM4", "organism": "Human", "refseq_name": "zinc finger SWIM domain-containing protein 4 isoform 1", "refseq_ac": [ { "id": "NP_075560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075560", "type": "external" } ], "gene_names_uniprotkb": "ZSWIM4", "gene_names_refseq": "ZSWIM4", "protein_names_uniprotkb": "Zinc finger SWIM domain-containing protein 4", "protein_names_refseq": "zinc finger SWIM domain-containing protein 4 isoform 1; zinc finger SWIM domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:65249)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11214971;11237011;22645359;26154972;26768311;26811146;26992070;27846572;28163244;29493099;31217245;31844290;32265295;32357974;32387766;32938616;33592498;33633747;34102191;34171305;35051231;35580925;36215666;38383406", "class_list": "", "function": "SWIM domain protein ZSWIM4 is required for JAK2 inhibition resistance in breast cancer., [RefSeq, PubMed]; There are inter-ethnic differences for uridine phosphorylase 1 (UPP1) and zinc finger-SWIM containing 4 (ZSWIM4) in response to 1alpha,25(OH)2D3, [RefSeq, PubMed]; ZSWIM4 inhibition improves chemosensitivity in epithelial ovarian cancer cells by suppressing intracellular glycine biosynthesis. 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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9H7M6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB69-1", "uniprot_id": [ { "id": "ZN519_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB69", "type": "external" } ], "mass": 63020.0, "length": 540, "protein_name": "Zinc finger protein 519", "gene_name": "ZNF519", "organism": "Human", "refseq_name": "zinc finger protein 519", "refseq_ac": [ { "id": "NP_660330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660330", "type": "external" } ], "gene_names_uniprotkb": "ZNF519", "gene_names_refseq": "HsT2362; ZNF519", "protein_names_uniprotkb": "Zinc finger protein 519", "protein_names_refseq": "zinc finger protein 519", "tax_id": 9606, "disease": "", "pathway": " (hsa:162655); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 34, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;18987618;2028256;2163759;25274305;25576301;26813693;28273063;30429286;31289231;31427381;31844290;35051231;38503887;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Noxa inhibits oncogenesis through ZNF519 in gastric cancer and is suppressed by hsa-miR-200b-3p. Publication Status: Online-Only, [RefSeq, PubMed]; 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": 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": "", "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": 3.5, "record_id": "Q8TB69-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVP9-1", "uniprot_id": [ { "id": "ZN547_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVP9", "type": "external" } ], "mass": 45956.0, "length": 402, "protein_name": "Zinc finger protein 547", "gene_name": "ZNF547", "organism": "Human", "refseq_name": "zinc finger protein 547", "refseq_ac": [ { "id": "NP_775902", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775902", "type": "external" } ], "gene_names_uniprotkb": "ZNF547", "gene_names_refseq": "ZNF547", "protein_names_uniprotkb": "Zinc finger protein 547", "protein_names_refseq": "zinc finger protein 547", "tax_id": 9606, "disease": "", "pathway": " (hsa:284306); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 57, "publication_id_list": "10235266;10330177;11237011;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;2163759;24714562;25274305;25880248;25892735;26375851;26813693;27600516;27846572;28228285;28273063;28832583;29242379;29493099;29508533;29557506;29769354;30315122;30429286;31154438;31289231;31427381;31844290;31848261;32157095;32357974;32502341;32983136;33123756;33592498;33717175;33981976;34932366;35051231;36284347;8183939;8769649;9016654;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": "A8K5Z9;Q96NC4", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q8IVP9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ECI4-1", "uniprot_id": [ { "id": "ZN470_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ECI4", "type": "external" } ], "mass": 82650.0, "length": 717, "protein_name": "Zinc finger protein 470", "gene_name": "ZNF470", "organism": "Human", "refseq_name": "zinc finger protein 470", "refseq_ac": [ { "id": "NP_001001668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001668", "type": "external" } ], "gene_names_uniprotkb": "ZNF470; CZF1", "gene_names_refseq": "CZF-1; ZNF470", "protein_names_uniprotkb": "Zinc finger protein 470; CZF-1; Chondrogenesis zinc finger protein 1", "protein_names_refseq": "chondrogenesis zinc finger protein 1; zinc finger protein 470", "tax_id": 9606, "disease": "", "pathway": " (hsa:388566); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11237011;11395415;14519192;15175151;15302581;15896744;16606702;16719718;18491316;2163759;24715725;29557506;31217245;31844290;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": 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": 0, "reported_glycation": 0, "reported_snv": 29, "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": "A8MTW0;B9EGU1;Q6ZPA1;Q9Y2N9", "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:0005654 nucleoplasm;GO:0016604 nuclear body", "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": 2.4, "record_id": "Q6ECI4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2Y4-1", "uniprot_id": [ { "id": "ZBT32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2Y4", "type": "external" } ], "mass": 52963.0, "length": 487, "protein_name": "Zinc finger and BTB domain-containing protein 32", "gene_name": "ZBTB32", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 32 isoform 2", "refseq_ac": [ { "id": "NP_001303831", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303831", "type": "external" } ], "gene_names_uniprotkb": "ZBTB32; FAZF; TZFP; ZNF538", "gene_names_refseq": "FAXF; FAZF; Rog; TZFP; ZBTB32; ZNF538; mynn", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 32; FANCC-interacting protein; Fanconi anemia zinc finger protein; Testis zinc finger protein; Zinc finger protein 538", "protein_names_refseq": "FANCC-interacting protein; fanconi anemia zinc finger protein; myoneurin; repressor of GATA; testis zinc finger protein; zinc finger and BTB domain-containing protein 32 isoform 2; zinc finger and BTB domain-containing protein 32; zinc finger protein 538", "tax_id": 9606, "disease": "", "pathway": " (hsa:27033)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10544010;10572087;11237011;11964310;11986317;20493880;23481700;24715725;25418920;25576301;25892735;26375851;27357154;27846572;27920218;28063628;28904123;29393594;29437277;29493099;29632046;29769354;30379171;30410026;31844290;32357974;32502341;32983136;33141586;33298915;33633747;33912179;34211107;34357683;38253038", "class_list": "", "function": "Can interact with GATA-2 and can modify GATA-2 transactivation capacity, [RefSeq, PubMed]; Confirmed that the promyelocytic leukemia zinc finger (PLZF) BTB dimer is strand exchanged in solution, while the FAZF BTB dimer is not, [RefSeq, PubMed]; DNA-binding protein that binds to the to a 5'-TGTACAGTGT-3' core sequence. May function as a transcriptional transactivator and transcriptional repressor. Probably exerts its repressor effect by preventing GATA3 from binding to DNA. May play a role in regulating the differentiation and activation of helper T-cells (By similarity)., [UniProtKB, PubMed]; Results suggest an essential role for FAZF during the proliferative stages of primitive hematopoietic progenitors, possibly acting in concert with (a subset of) the Fanconi anemia proteins, [RefSeq, PubMed]; ZBTB32 is a novel negative regulator of antibody recall responses., [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": 6, "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": "Q8WVP2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;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:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9Y2Y4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P280-1", "uniprot_id": [ { "id": "ZN529_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P280", "type": "external" } ], "mass": 65865.0, "length": 563, "protein_name": "Zinc finger protein 529", "gene_name": "ZNF529", "organism": "Human", "refseq_name": "zinc finger protein 529 isoform a", "refseq_ac": [ { "id": "NP_001139121", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139121", "type": "external" } ], "gene_names_uniprotkb": "ZNF529; KIAA1615", "gene_names_refseq": "ZNF529", "protein_names_uniprotkb": "Zinc finger protein 529", "protein_names_refseq": "zinc finger protein 529 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:57711); (R-HSA-212436)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23301498;24715725;25576301;26154972;26992070;28832583;28904123;29437277;29493099;29557506;30410026;31154438;31217245;31844290;31848261;32157095;32357974;33298915;33392160;33912179;33968037;34185709;36241641;37938771;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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "K7EKE1;Q9H731;Q9HCF7", "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:0043565 sequence-specific DNA binding;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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6P280-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NS1-1", "uniprot_id": [ { "id": "YPEL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NS1", "type": "external" } ], "mass": 14301.0, "length": 127, "protein_name": "Protein yippee-like 4", "gene_name": "YPEL4", "organism": "Human", "refseq_name": "protein yippee-like 4", "refseq_ac": [ { "id": "NP_659445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659445", "type": "external" } ], "gene_names_uniprotkb": "YPEL4; YPEL", "gene_names_refseq": "YPEL4", "protein_names_uniprotkb": "Protein yippee-like 4", "protein_names_refseq": "protein yippee-like 4", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:219539)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;15556292;20508983;20555386;27333825;29493099;31154438;32350084", "class_list": "", "function": "Data show that major vault protein (MVP), a lung resistance associated protein, is a binding partner of YPEL4., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results demonstrated that YPEL4 stimulates human adrenal cortical cell proliferation, increasing aldosterone production. Also, YPEL4 expression levels are higher in human aldosterone producing adenoma., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KW92;Q2M3U7;Q65Z98", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q96NS1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PML9-1", "uniprot_id": [ { "id": "ZNT9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PML9", "type": "external" } ], "mass": 63515.0, "length": 568, "protein_name": "Proton-coupled zinc antiporter SLC30A9, mitochondrial", "gene_name": "SLC30A9", "organism": "Human", "refseq_name": "proton-coupled zinc antiporter SLC30A9, mitochondrial", "refseq_ac": [ { "id": "NP_006336", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006336", "type": "external" } ], "gene_names_uniprotkb": "SLC30A9; C4orf1; HUEL", "gene_names_refseq": "BILAPES; C4orf1; GAC63; HUEL; SLC30A9; ZNT9", "protein_names_uniprotkb": "Proton-coupled zinc antiporter SLC30A9, mitochondrial; HuEL; Human embryonic lung protein; Solute carrier family 30 member 9; Zinc transporter 9; ZnT-9", "protein_names_refseq": "GRIP1-dependent nuclear receptor coactivator; expressed in human embryonic lung; human embryonic lung protein; proton-coupled zinc antiporter SLC30A9, mitochondrial; solute carrier family 30 (zinc transporter), member 9; zinc transporter 9; znT-9", "tax_id": 9606, "disease": "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome (MONDO:MONDO:0044726)", "pathway": " (hsa:10463)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10409434;11237011;11906820;17971500;19064571;24715725;26992070;28334855;29557506;30429286;31844290;32157095;32387766;33592498;33968037;34397090;34433664;35051231;35580925;35614220;37041080;38961519;39158587;39302247", "class_list": "", "function": "Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants., [RefSeq, PubMed]; HZnT-9 was expressed at low levels in leukocytes., [RefSeq, PubMed]; Mitochondrial proton-coupled zinc ion antiporter mediating the export of zinc from the mitochondria and involved in zinc homeostasis, zinc mobilization as well as mitochondrial morphology and health (PubMed:28334855, PubMed:34397090, PubMed:34433664, PubMed:35614220). In nucleus, functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; N-acetyltransferase 10 facilitates tumorigenesis of diffuse large B-cell lymphoma by regulating AMPK/mTOR signalling through N4-acetylcytidine modification of SLC30A9., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that HUEL, which shares significant homology with the DNA-binding domain of XPA, is likely to be a conserved, housekeeping gene that is intimately linked with cellular replication, DNA synthesis and/or transcriptional regulation., [RefSeq, PubMed]; SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development. 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": 11, "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": "Q4W5B6;Q7Z5I7;Q8TBB2;Q9Y6R2", "ec_number_list": [], "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0015297 antiporter activity;GO:0016922 nuclear receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0005856 cytoskeleton;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006829 zinc ion transport;GO:0006351 DNA-templated transcription;GO:0006882 intracellular zinc ion homeostasis;GO:0010821 regulation of mitochondrion organization;GO:0006289 nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q6PML9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75312-1", "uniprot_id": [ { "id": "ZPR1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75312", "type": "external" } ], "mass": 50925.0, "length": 459, "protein_name": "Zinc finger protein ZPR1", "gene_name": "ZPR1", "organism": "Human", "refseq_name": "zinc finger protein ZPR1 isoform 2", "refseq_ac": [ { "id": "NP_001304015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304015", "type": "external" } ], "gene_names_uniprotkb": "ZPR1; ZNF259", "gene_names_refseq": "GKAF; ZNF259; ZPR1", "protein_names_uniprotkb": "Zinc finger protein ZPR1; Zinc finger protein 259", "protein_names_refseq": "zinc finger protein 259; zinc finger protein ZPR1 isoform 2; zinc finger protein ZPR1", "tax_id": 9606, "disease": "growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (MONDO:MONDO:0859146)", "pathway": " (hsa:8882)", "pathway_count": 1, "publication_count": 84, "publication_id_list": "11237011;11283611;12095920;17068332;17697703;22422766;23481700;25418920;25505266;25576301;25645385;25880248;26154972;26375851;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29851065;30315122;30429286;30524438;30779550;30833945;31092671;31154438;31222486;31530632;31828288;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32807694;32897882;32938616;33298915;33392160;33567543;33592498;33691108;33912179;33968037;33981976;33986338;34019948;34087483;34171305;34357683;34509645;34561969;34932366;35051231;35251023;35318648;35561310;35580925;36010968;36241641;36284347;37217939;37938771;38665916;38985417;39534244;40914422;8650580;9763455;9852145", "class_list": "", "function": "Acts as a signaling molecule that communicates proliferative growth signals from the cytoplasm to the nucleus. It is involved in the positive regulation of cell cycle progression (PubMed:29851065). Plays a role for the localization and accumulation of the survival motor neuron protein SMN1 in sub-nuclear bodies, including gems and Cajal bodies. Induces neuron differentiation and stimulates axonal growth and formation of growth cone in spinal cord motor neurons. Plays a role in the splicing of cellular pre-mRNAs. May be involved in H(2)O(2)-induced neuronal cell death., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Implication between Genetic Variants from APOA5 and ZPR1 and NAFLD Severity in Patients with Hypertriglyceridemia. Publication Status: Online-Only, [RefSeq, PubMed]; Kernel machine SNP set analysis finds the association of BUD13, ZPR1, and APOA5 variants with metabolic syndrome in Tehran Cardio-metabolic Genetics Study. Publication Status: Online-Only, [RefSeq, PubMed]; The ZPR1 genotype predicts myocardial infarction in patients with familial hypercholesterolemia., [RefSeq, PubMed]; The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]; ZPR1 prevents R-loop accumulation, upregulates SMN2 expression and rescues spinal muscular atrophy. Erratum:[Brain. 2020 Mar 1;143(3):e24. doi: 10.1093/brain/awaa007. PMID: 32333675], [RefSeq, PubMed]; Zinc finger 259 gene polymorphisms in Egyptian patients with metabolic syndrome and its association with dyslipidemia., [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": 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": "Q2TAA0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0030971 receptor tyrosine kinase binding;GO:0044183 protein folding chaperone;GO:0031369 translation initiation factor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0030424 axon", "go_biological_process": "GO:0042307 positive regulation of protein import into nucleus;GO:0033120 positive regulation of RNA splicing;GO:0006397 mRNA processing;GO:0007165 signal transduction;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O75312-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8Z8-1", "uniprot_id": [ { "id": "ZN441_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8Z8", "type": "external" } ], "mass": 80136.0, "length": 693, "protein_name": "Zinc finger protein 441", "gene_name": "ZNF441", "organism": "Human", "refseq_name": "zinc finger protein 441", "refseq_ac": [ { "id": "NP_689568", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689568", "type": "external" } ], "gene_names_uniprotkb": "ZNF441", "gene_names_refseq": "ZNF441", "protein_names_uniprotkb": "Zinc finger protein 441", "protein_names_refseq": "zinc finger protein 441", "tax_id": 9606, "disease": "", "pathway": " (hsa:126068); (R-HSA-212436)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;26992070;29242379;30484775;31154438;31217245;31844290;31848261;32157095;32488085;32938616;32983136;35051231;35580925;36010968;37938771;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": 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": "", "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": 3.1, "record_id": "Q8N8Z8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BS86-1", "uniprot_id": [ { "id": "ZPBP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BS86", "type": "external" } ], "mass": 40142.0, "length": 351, "protein_name": "Zona pellucida-binding protein 1", "gene_name": "ZPBP", "organism": "Human", "refseq_name": "zona pellucida-binding protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001153350", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153350", "type": "external" } ], "gene_names_uniprotkb": "ZPBP; ZPBP1", "gene_names_refseq": "SPGF66; ZPBP1; ZPBP", "protein_names_uniprotkb": "Zona pellucida-binding protein 1; Inner acrosomal membrane IAM38; Sp38", "protein_names_refseq": "inner acrosomal membrane IAM38; zona pellucida-binding protein 1 isoform 2 precursor; zona pellucida-binding protein 1", "tax_id": 9606, "disease": "spermatogenic failure 66 (Disease Ontology:DOID:0070565)", "pathway": " (hsa:11055)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;17664285;21911476;29242379;30379171;31092671;31429579;31985809;35051231;9378618", "class_list": "", "function": "Data show that loss of zona pellucida binding proteins 1 and 2 in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis. Erratum:[Mol Cell Biol. 2008 Apr;28(7):2495], [RefSeq, PubMed]; Data suggest that missense mutations exert a dominant-negative effect due to altered ZPBP1 protein folding and protein:protein interactions in the acrosome., [RefSeq, PubMed]; Plays a role in acrosome compaction and sperm morphogenesis (PubMed:21911476). Is implicated in sperm-oocyte interaction during fertilization (By similarity)., [UniProtKB, PubMed, UniProtKB]; ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 20, "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": "A4D253;C9JPU1;Q15941;Q75KX9;Q75MI3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0001669 acrosomal vesicle;GO:0002080 acrosomal membrane;GO:0002199 zona pellucida receptor complex", "go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BS86-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NU63-1", "uniprot_id": [ { "id": "ZFP57_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NU63", "type": "external" } ], "mass": 51919.0, "length": 452, "protein_name": "Zinc finger protein 57 homolog", "gene_name": "ZFP57", "organism": "Human", "refseq_name": "zinc finger protein 57 homolog isoform 1", "refseq_ac": [ { "id": "NP_001103279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103279", "type": "external" } ], "gene_names_uniprotkb": "ZFP57; C6orf40; ZNF698", "gene_names_refseq": "C6orf40; TNDM1; ZFP57; ZNF698; bA145L22.2; bA145L22", "protein_names_uniprotkb": "Zinc finger protein 57 homolog; Zfp-57; Zinc finger protein 698", "protein_names_refseq": "zfp-57; zinc finger protein 57 homolog isoform 1; zinc finger protein 57 homolog; zinc finger protein 698", "tax_id": 9606, "disease": "transient neonatal diabetes mellitus 1 (Disease Ontology:DOID:0061173)", "pathway": " (hsa:346171)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;18622393;30602440;33053156;33500348;35051231;35175239", "class_list": "", "function": "Mutational Alterations of DNA Methylation-related Genes CTCF, ZFP57, and ATF7IP Genes in Colon Cancers., [RefSeq, PubMed]; Study reports mutations in ZFP57, which encodes a zinc-finger transcription factor expressed in early development, in seven pedigrees with a shared pattern of mosaic hypomethylation and a conserved range of clinical features., [RefSeq, PubMed]; The protein encoded by this gene is a zinc finger protein containing a KRAB domain. Studies in mouse suggest that this protein may function as a transcriptional repressor. Mutations in this gene have been associated with transient neonatal diabetes mellitus type 1 (TNDM1).[provided by RefSeq, Sep 2009]., [RefSeq]; The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances., [RefSeq, PubMed]; Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs) (PubMed:18622393, PubMed:30602440). Acts together with ZNF445, but ZNF445 seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440). Required for the establishment of maternal methylation imprints at SNRPN locus. Acts as a transcriptional repressor in Schwann cells. Binds to a 5'-TGCCGC-3' consensus sequence and recognizes the methylated CpG within this element (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; ZFP57 dictates allelic expression switch of target imprinted 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, 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NCRNA00116; SMIM37", "gene_names_refseq": "LEMP; LINC00116; MOXI; MPM; MTLN; NCRNA00116; SMIM37; TILR", "protein_names_uniprotkb": "Mitoregulin; Micropeptide in mitochondria; Micropeptide regulator of beta-oxidation; Small integral membrane protein 37; lncRNA-encoded micropeptide", "protein_names_refseq": "TP53-inhibiting lncRNA; lncRNA encoded micropeptide; long intergenic non-protein coding RNA 116; micropeptide in mitochondria; micropeptide regulator of beta-oxidation; mitoregulin; small integral membrane protein 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:205251)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "23305238;25576301;26992070;27920218;29242379;29393594;29557506;29949756;30315122;30410026;31693227;32243843;32387766;33091337;33968037;34509645;36522487;37938771", "class_list": "", "function": "LINC00116 enhances cervical cancer tumorigenesis through miR-106a/c-Jun pathway., [RefSeq, PubMed]; Long non-coding RNA TILR constitutively represses TP53 and apoptosis in lung cancer., [RefSeq, PubMed]; Mitoregulin Controls beta-Oxidation in Human and Mouse Adipocytes., [RefSeq, PubMed]; Positively regulates mitochondrial complex assembly and/or stability (By similarity). Increases mitochondrial membrane potential while decreasing mitochondrial reactive oxygen species (PubMed:29949756). Increases mitochondrial respiration rate (PubMed:29949756). Increased mitochondrial respiratory activity promotes myogenic differentiation which facilitates muscle growth and regeneration (By similarity). Increases mitochondrial calcium retention capacity (PubMed:29949756). Plays a role in maintenance of cellular lipid composition through its interaction with cytochrome b5 reductase CYB5R3 which is required for mitochondrial respiratory complex I activity (By similarity). Interacts with the mitochondrial trifunctional enzyme complex (MTE) and enhances fatty acid beta-oxidation (PubMed:32243843). Not required for MTE formation or stability (By similarity). 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"class_list": "", "function": "Ligand for members of the frizzled family of seven transmembrane receptors. May play an important role in the development and differentiation of certain forebrain structures, notably the hippocampus., [UniProtKB, PubMed]; Significantly up-regulated in gastric cancer cell lines KATO-III (signet-ring cell carcinoma) and MKN45 (poorly differentiated adenocarcinoma), and also in 5 out of 10 cases of primary gastric cancer, [RefSeq, PubMed]; The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 95%, 86% and 71% amino acid identity to the mouse, zebrafish and Xenopus Wnt8B proteins, respectively. The expression patterns of the human and mouse genes appear identical and are restricted to the developing brain. The chromosomal location of this gene to 10q24 suggests it as a candidate gene for partial epilepsy. [provided by RefSeq, Jul 2008]., [RefSeq]; WNT8B as an Independent Prognostic Marker for Nasopharyngeal Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; WNT8b and SHH mutations and abnormal expressions are present in the peripheral blood of children with sporadic Hirschsprung disease. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Wnt8B, transcriptionally regulated by ZNF191, promotes cell proliferation of hepatocellular carcinoma via Wnt signaling., [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": 6, "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": "O00771;Q5VX55;Q8WYK9", "ec_number_list": [], "go_molecular_function": "GO:0005109 frizzled binding;GO:0005125 cytokine activity;GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0071300 cellular response to retinoic acid;GO:0032526 response to retinoic acid;GO:0030182 neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q93098-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JL9-1", "uniprot_id": [ { "id": "ZN333_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JL9", "type": "external" } ], "mass": 75544.0, "length": 665, "protein_name": "Zinc finger protein 333", "gene_name": "ZNF333", "organism": "Human", "refseq_name": "zinc finger protein 333 isoform 2", "refseq_ac": [ { "id": "NP_001287841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287841", "type": "external" } ], "gene_names_uniprotkb": "ZNF333; KIAA1806", "gene_names_refseq": "ZNF333", "protein_names_uniprotkb": "Zinc finger protein 333", "protein_names_refseq": "zinc finger protein 333 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84449); (R-HSA-212436)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10235266;10330177;11237011;11395415;12151103;14519192;15175151;15607024;15896744;16606702;16719718;2163759;25576301;28228285;29242379;31217245;31844290;31848261;32157095;32387766;32983136;33298915;33691108;33968037;34932366;35051231;35580925;38253038;8183939;8769649;9637681;9653119", "class_list": "", "function": "Dna sequence analysis of ZNF333 gene located on chromosome 19p13.1, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; ZNF333 recognized the specific DNA core binding sequence ATAAT, [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": 18, "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": "Q6P2E6;Q86WS6;Q8TDL0", "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;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q96JL9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MT0-1", "uniprot_id": [ { "id": "YJ006_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MT0", "type": "external" } ], "mass": 16963.0, "length": 163, "protein_name": "Putative uncharacterized protein FLJ31958", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ31958", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 13, "publication_id_list": "23481700;26154972;28832583;28834231;29242379;29557506;31848261;32488085;32561536;33298915;33592498;34932366;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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q96MT0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NJ1-1", "uniprot_id": [ { "id": "YI001_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NJ1", "type": "external" } ], "mass": 14269.0, "length": 140, "protein_name": "Uncharacterized protein FLJ30774", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein FLJ30774", "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": "Q96NJ1-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99676-1", "uniprot_id": [ { "id": "ZN184_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99676", "type": "external" } ], "mass": 86174.0, "length": 751, "protein_name": "Zinc finger protein 184", "gene_name": "ZNF184", "organism": "Human", "refseq_name": "zinc finger protein 184 isoform 1", "refseq_ac": [ { "id": "NP_001305820", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305820", "type": "external" } ], "gene_names_uniprotkb": "ZNF184", "gene_names_refseq": "ZNF184; kr-ZNF3", "protein_names_uniprotkb": "Zinc finger protein 184", "protein_names_refseq": "zinc finger protein 184 (Kruppel-like); zinc finger protein 184 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7738); (R-HSA-212436)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;19690332;2163759;23186163;24715725;27565901;27862975;28228285;28832583;29393594;29493099;30315122;30429286;31217245;31844290;32125537;33592498;33968037;34185709;35051231;36010968;36241641;36868327;39894887;8183939;8769649;9073517;9637681;9653119", "class_list": "", "function": "Association between ZNF184 and symptoms of Parkinson's disease in southern Chinese., [RefSeq, PubMed]; Long intergenic non-protein coding RNA 00858 participates in the occurrence and development of esophageal squamous cell carcinoma through the activation of the FTO-m6A-MYC axis by recruiting ZNF184., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; The protein encoded by this gene is predicted to be a Kruppel C2H2-type zinc-finger protein family member. Sequence analysis predicts that the protein contains two Kruppel associated box (KRAB) boxes in the N-terminus and highly conserved zinc finger motifs at the C-terminus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]., [RefSeq]; We found that 6p22.1 (rs6904596, ZNF184) was associated with both lung cancer and blood 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R715;O60792;Q8TBA9", "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:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q99676-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRP9-1", "uniprot_id": [ { "id": "YK016_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRP9", "type": "external" } ], "mass": 15625.0, "length": 147, "protein_name": "Putative uncharacterized protein MGC13053", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein MGC13053", "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9BRP9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZS9-1", "uniprot_id": [ { "id": "YG041_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZS9", "type": "external" } ], "mass": 5619.0, "length": 49, "protein_name": "Putative uncharacterized protein PNAS-138", "gene_name": "PNAS-138", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PNAS-138", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PNAS-138", "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, 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{ "uniprot_canonical_ac": "Q9C0E2-1", "uniprot_id": [ { "id": "XPO4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0E2", "type": "external" } ], "mass": 130139.0, "length": 1151, "protein_name": "Exportin-4", "gene_name": "XPO4", "organism": "Human", "refseq_name": "exportin-4 isoform 1", "refseq_ac": [ { "id": "NP_071904", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071904", "type": "external" } ], "gene_names_uniprotkb": "XPO4; KIAA1721", "gene_names_refseq": "XPO4; exp4", "protein_names_uniprotkb": "Exportin-4; Exp4", "protein_names_refseq": "exportin-4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:64328)", "pathway_count": 1, "publication_count": 93, "publication_id_list": "10.1101/2023.09.13.557529;10944119;16449645;17081983;18669648;18691976;18767875;19240061;19651622;19690332;19691289;20068231;21406692;22424782;22898188;23186163;23481700;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26787900;26992070;27306458;27600516;27846572;27920218;28063628;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;29786170;30315122;30379171;30410026;30524438;30779550;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34357683;34388518;34509645;34561969;34932366;35051231;35580925;36010968;36215666;36241641;36581221;38722973;40914422", "class_list": "", "function": "A short peptide representing the minimal interaction domain in Smad3 effectively competes with Smad3 association to exportin 4 and blocks nuclear export of Smad3 in vivo., [RefSeq, PubMed]; Copy number variation and expression of exportin-4 associates with severity of fibrosis in metabolic associated fatty liver disease., [RefSeq, PubMed]; Exportin 4 DNA promoter methylation in liver fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates the nuclear export of proteins (cargos), such as EIF5A, SMAD3 and isoform M2 of PKM (PKM2) (PubMed:10944119, PubMed:16449645, PubMed:26787900). In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins (PubMed:10944119, PubMed:16449645). Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor (PubMed:10944119, PubMed:16449645). XPO4 then return to the nuclear compartment and mediate another round of transport (PubMed:10944119, PubMed:16449645). The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (PubMed:10944119, PubMed:16449645). Catalyzes the nuclear export of hypusinated EIF5A; a small cytoplasmic protein that enters nucleus and accumulates within nucleolus if not exported back by XPO4 (PubMed:10944119). Specifically mediates nuclear export of isoform M2 of PKM (PKM2) following PKM2 deacetylation by SIRT6 (PubMed:26787900). Also mediates the nuclear import of SOX transcription factors SRY and SOX2 (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Molecular structure of the exportin Xpo4 in complex with RanGTP and the hypusine-containing translation factor eIF5A has been reported. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; XPO4 belongs to a large family of karyopherins (see MIM 602738) that mediate the transport of proteins and other cargo between the nuclear and cytoplasmic compartments (Lipowsky et al., 2000 [PubMed 10944119]).[supplied by OMIM, 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": 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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "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": "Q5VUZ5;Q8N3V6;Q9H934", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0005049 nuclear export signal receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046827 positive regulation of protein export from nucleus;GO:0006611 protein export from nucleus", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9C0E2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H379-1", "uniprot_id": [ { "id": "YI012_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H379", "type": "external" } ], "mass": 10324.0, "length": 93, "protein_name": "Putative uncharacterized protein PRO3102", "gene_name": "PRO3102", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRO3102", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PRO3102", "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9H379-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4Z2-1", "uniprot_id": [ { "id": "ZN335_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4Z2", "type": "external" } ], "mass": 144893.0, "length": 1342, "protein_name": "Zinc finger protein 335", "gene_name": "ZNF335", "organism": "Human", "refseq_name": "zinc finger protein 335", "refseq_ac": [ { "id": "NP_071378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071378", "type": "external" } ], "gene_names_uniprotkb": "ZNF335", "gene_names_refseq": "MCPH10; NIF-1; NIF1; NIF2; ZNF335", "protein_names_uniprotkb": "Zinc finger protein 335; NIF-1; NRC-interacting factor 1", "protein_names_refseq": "NRC-interacting factor 1; zinc finger protein 335; zinc-finger/leucine-zipper co-transducer NIF1", "tax_id": 9606, "disease": "primary autosomal recessive microcephaly 10 (Disease Ontology:DOID:0070294)", "pathway": " (hsa:63925); (R-HSA-5617472)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10777502;12215545;15302935;15867264;16079151;16549775;17185360;17428788;17525332;1756725;17660710;17713478;17761849;17851529;18180299;18669648;18781158;19115252;19131338;19232136;19413330;19747919;1975088;19782034;19854132;20085832;22569366;22705304;22879880;23178126;23186163;23219899;23481700;23534758;23630040;24174538;24312487;24586203;25101834;25135475;25576301;2570724;25913784;25920553;26375851;26479514;27540107;27920218;28832583;28834231;29242379;29393594;29493099;29632046;29652087;29786170;30059200;30429286;31217245;31844290;31848261;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33633747;33717175;33912179;33936100;33968037;34405274;34561969;35051231;35251023;36010968;38309700;7488013;7501971;7831296;7906964;7908827;8674428;8759021;9218805;9272954;9482740", "class_list": "", "function": "CCR4 plays a role in the regulation of certain endogenous RARalpha target genes and RCD1 and CCR4 might mediate their function through their interaction with NIF-1, [RefSeq, PubMed]; Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters (PubMed:19131338, PubMed:23178126). Enhances ligand-dependent transcriptional activation by nuclear hormone receptors (PubMed:12215545, PubMed:18180299, PubMed:19131338). Plays an important role in neural progenitor cell proliferation and self-renewal through the regulation of specific genes involved brain development, including REST (PubMed:23178126). Also controls the expression of genes involved in somatic development and regulates, for instance, lymphoblast proliferation (PubMed:23178126)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; In this article, we describe another family harboring ZNF335 mutations. The mutations were individually transmitted by her parents, indicating that the proband was compound heterozygous for the mutations. We speculate that invisible basal ganglia may be the key feature of ZNF335 mutations., [RefSeq, PubMed]; NRC-interacting factor 1 is a novel cotransducer that interacts with and regulates the activity of the nuclear hormone receptor coactivator NRC, [RefSeq, PubMed]; Possible effect of OAS1 and TMPRSS6 but not DPP4 and ZNF335 polymorphisms on COVID-19 severity in the Czech population., [RefSeq, PubMed]; The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional coactivator NRC. The encoded protein may function by altering local chromatin structure. [provided by RefSeq, Jul 2008]., [RefSeq]; We describe, herein, 2 additional affected individuals with biallelic ZNF335 variants, 1 individual with a homozygous c.1399 T > C, p.(Cys467Arg) variant, and a second individual with compound heterozygous c.2171_2173delTCT, p.(Phe724del) and c.3998A > G, p.(Glu1333Gly) variants with the latter variant predicted to affect splicing..Our findings expand the clinical spectrum of ZNF335-associated microcephaly, [RefSeq, PubMed]; We performed a meta-analysis of our data with the previous reports, identifying two further loci harbouring the ZNF335 and NIFA genes which now exceed genome-wide significance, taking the total number of CD susceptibility loci to 42., [RefSeq, PubMed]; ZNF335 gene mutation is associated with extreme microcephaly with a severely simplified gyral pattern, decreased brain size, increased extra-axial space, enlarged ventricles, absence of the corpus callosum and delayed myelination, [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": 6, "reported_mutagensis": 0, "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": "B4DLG7;Q548D0;Q9H684", "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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035097 histone methyltransferase complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0048812 neuron projection morphogenesis;GO:0007420 brain development;GO:0040029 epigenetic regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q9H4Z2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H521-1", "uniprot_id": [ { "id": "YM006_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H521", "type": "external" } ], "mass": 9322.0, "length": 79, "protein_name": "Putative uncharacterized protein LOC645739", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein LOC645739", "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": "Q9H521-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8V8-1", "uniprot_id": [ { "id": "YD018_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8V8", "type": "external" } ], "mass": 14815.0, "length": 135, "protein_name": "Putative uncharacterized protein FLJ13197", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ13197", "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": "Q9H8V8-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAA7-1", "uniprot_id": [ { "id": "YG046_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAA7", "type": "external" } ], "mass": 14475.0, "length": 133, "protein_name": "Putative uncharacterized protein FLJ11871", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ11871", "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": "Q9HAA7-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQH7-1", "uniprot_id": [ { "id": "XPP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQH7", "type": "external" } ], "mass": 57034.0, "length": 507, "protein_name": "Xaa-Pro aminopeptidase 3", "gene_name": "XPNPEP3", "organism": "Human", "refseq_name": "xaa-Pro aminopeptidase 3 isoform 1", "refseq_ac": [ { "id": "NP_071381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071381", "type": "external" } ], "gene_names_uniprotkb": "XPNPEP3", "gene_names_refseq": "APP3; ICP55; NPHPL1; XPNPEP3", "protein_names_uniprotkb": "Xaa-Pro aminopeptidase 3; 3.4.11.9; APP3; Aminopeptidase P3; X-Pro aminopeptidase 3", "protein_names_refseq": "Intermediate Cleaving Peptidase 55; X-Pro aminopeptidase 3; X-prolyl aminopeptidase 3, mitochondrial; probable Xaa-Pro aminopeptidase 3; xaa-Pro aminopeptidase 3 isoform 1; xaa-Pro aminopeptidase 3", "tax_id": 9606, "disease": "nephronophthisis-like nephropathy 1 (Disease Ontology:DOID:0111117)", "pathway": " (hsa:63929)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;15708373;18477386;20179356;24715725;25576301;25609706;26992070;28476889;28904123;29242379;29383790;29632711;30429286;31844290;32357974;32488085;32938616;33141586;34171305;34357683;39894887", "class_list": "", "function": "Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser at the P1 position (PubMed:28476889)., [UniProtKB, PubMed, PubMed]; Data suggest that human XPNPEP3, Ashbya gossypii Icp55, and Fusarium graminearum Icp55 exhibit structural and functional properties of genuine Xaa-Pro specific aminopeptidases; these enzymes appear to function in the previously observed mitochondrial role of Icp55 in processing of Nfs1 (mitochondrial cysteine desulfurase) substrate. [Icp55 = intermediate-cleavage metalloexopeptidases 55], [RefSeq, PubMed]; Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. Erratum:[J Clin Invest. 2010 Apr;120(4):1362. Jackson, Peter [corrected to Jackson, Peter K]], [RefSeq, PubMed]; Promotes TNFRSF1B-mediated phosphorylation of MAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapter protein for TNFRSF1B; the effect is independent of XPNPEP3 peptidase activity. May inhibit apoptotic cell death induced via TNF-TNFRSF1B signaling., [UniProtKB, PubMed]; Results therefore suggest XPNPEP3 to be a transcriptional target of Wnt/beta-catenin pathway with particular significance for CRC, [RefSeq, PubMed]; The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 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": 7, "reported_glycation": 0, "reported_snv": 12, "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": "B2R9G1;B7Z790;B7Z7B2;Q6I9V9;Q8NDA6;Q9BV27;Q9BVH0", "ec_number_list": [], "go_molecular_function": "GO:0030145 manganese ion binding;GO:0042803 protein homodimerization activity;GO:0004177 aminopeptidase activity;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0003094 glomerular filtration", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9NQH7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UF83-1", "uniprot_id": [ { "id": "YM012_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UF83", "type": "external" } ], "mass": 59412.0, "length": 564, "protein_name": "Uncharacterized protein DKFZp434B061", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Uncharacterized protein DKFZp434B061", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "23481700;24715725;26992070;28904123;29393594;29786170;32938616;32938750;34509645;35051231;35254053", "class_list": "", "function": "", "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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q9NTQ6;Q9UFS5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9UF83-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHT4-1", "uniprot_id": [ { "id": "YG001_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHT4", "type": "external" } ], "mass": 8314.0, "length": 67, "protein_name": "Putative uncharacterized protein PRO1854", "gene_name": "PRO1854", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRO1854", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PRO1854", "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": "Q9UHT4-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULE0-1", "uniprot_id": [ { "id": "WWC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULE0", "type": "external" } ], "mass": 136649.0, "length": 1216, "protein_name": "Protein WWC3", "gene_name": "WWC3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "WWC3; KIAA1280", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein WWC3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:55841)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "24682284;30379171;31530632;31848261;32161166;35289036", "class_list": "", "function": "Regulator of the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway. Enhances phosphorylation of LATS1 and YAP1 and negatively regulates cell proliferation and organ growth due to a suppression of the transcriptional activity of YAP1, the major effector of the Hippo pathway., [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8KA96;Q659C1;Q9BTQ1;T2C6S4", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0019900 kinase binding;GO:0035591 signaling adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046621 negative regulation of organ growth;GO:0035330 regulation of hippo signaling;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9ULE0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCN2-1", "uniprot_id": [ { "id": "ZBT34_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCN2", "type": "external" } ], "mass": 55534.0, "length": 500, "protein_name": "Zinc finger and BTB domain-containing protein 34", "gene_name": "ZBTB34", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 34 isoform 1", "refseq_ac": [ { "id": "NP_001092740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092740", "type": "external" } ], "gene_names_uniprotkb": "ZBTB34; KIAA1993", "gene_names_refseq": "ZBTB34; ZNF918", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 34", "protein_names_refseq": "zinc finger and BTB domain-containing protein 34 isoform 1; zinc finger and BTB domain-containing protein 34", "tax_id": 9606, "disease": "", "pathway": " (hsa:403341)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;12056414;16718364;22424782;23186163;23481700;25892735;26154972;26992070;27600516;27862975;28218747;28832583;28834231;29242379;29437277;29493099;29557506;29769354;30410026;31848261;32161166;32387766;32938616;33298915;33592498;33691108;33717175;33912179;34509645;35051231;36284347", "class_list": "", "function": "May be a transcriptional repressor., [UniProtKB, PubMed]; This present work as the first report about the functional exploration of the novel ZBTB34 gene would be contributed to profound understanding of the transcriptional regulation via BTB/POZ protein 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": 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": "Q38IA7;Q5VYE9", "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:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8NCN2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDX4-1", "uniprot_id": [ { "id": "YO011_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDX4", "type": "external" } ], "mass": 13671.0, "length": 124, "protein_name": "Putative transmembrane protein ENSP00000320207", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative transmembrane protein ENSP00000320207", "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": "A6NDX4-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NEH8-1", "uniprot_id": [ { "id": "ZNAS2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NEH8", "type": "external" } ], "mass": 20902.0, "length": 195, "protein_name": "Putative uncharacterized protein encoded by ZNF503-AS2", "gene_name": "ZNF503-AS2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZNF503-AS2; C10orf41; NCRNA00245", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by ZNF503-AS2; ZNF503 antisense RNA 2", "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NEH8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NIN4-1", "uniprot_id": [ { "id": "RN227_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NIN4", "type": "external" } ], "mass": 21006.0, "length": 190, "protein_name": "RING finger protein 227", "gene_name": "RNF227", "organism": "Human", "refseq_name": "RING finger protein 227", "refseq_ac": [ { "id": "NP_001345628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001345628", "type": "external" } ], "gene_names_uniprotkb": "RNF227; LINC02581", "gene_names_refseq": "LINC02581; RNF227", "protein_names_uniprotkb": "RING finger protein 227; Long intergenic non-protein coding RNA 2581", "protein_names_refseq": "RING finger protein 227; long intergenic non-protein coding RNA 2581", "tax_id": 9606, "disease": "", "pathway": " (hsa:284023)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;32157095;32938616;33968037", "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": "A0A1B0GVC2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A6NIN4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NP61-1", "uniprot_id": [ { "id": "ZAR1L_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NP61", "type": "external" } ], "mass": 36010.0, "length": 321, "protein_name": "Protein ZAR1-like", "gene_name": "ZAR1L", "organism": "Human", "refseq_name": "protein ZAR1-like", "refseq_ac": [ { "id": "NP_001130043", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001130043", "type": "external" } ], "gene_names_uniprotkb": "ZAR1L", "gene_names_refseq": "Z3CXXC7; ZAR1L; ZAR2", "protein_names_uniprotkb": "Protein ZAR1-like; Zygote arrest protein 1-like", "protein_names_refseq": "ZAR1-like protein; protein ZAR1-like; zinc finger, 3CxxC-type 7; zygote arrest protein 1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:646799)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "19913121;20202217;20628086;37217939", "class_list": "", "function": "BRCA2 gene promoter has bi-directional activity, expressing BRCA2 and a novel C4-type zinc finger containing transcription factor ZAR2. Publication Status: Online-Only, [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]; This gene encodes a member of the ZAR1 family that is predominantly expressed in oocytes and early embryos. The protein may function as an RNA regulator in early embryos. [provided by RefSeq, Apr 2010]., [RefSeq]; mRNA-binding protein required for maternal mRNA storage, translation and degradation during oocyte maturation (By similarity). Probably promotes formation of some phase-separated membraneless compartment that stores maternal mRNAs in oocytes: acts by undergoing liquid-liquid phase separation upon binding to maternal mRNAs (By similarity). Binds to the 3'-UTR of maternal mRNAs, inhibiting their translation (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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RV03;B7ZBU2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0043232 intracellular membraneless organelle", "go_biological_process": "GO:0017148 negative regulation of translation;GO:0001556 oocyte maturation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A6NP61-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MUN3-1", "uniprot_id": [ { "id": "YQ048_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MUN3", "type": "external" } ], "mass": 14205.0, "length": 132, "protein_name": "Putative uncharacterized protein ENSP00000381830", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ENSP00000381830", "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:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A8MUN3-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MUU9-1", "uniprot_id": [ { "id": "YV023_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MUU9", "type": "external" } ], "mass": 55306.0, "length": 505, "protein_name": "Putative uncharacterized protein ENSP00000383309", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ENSP00000383309", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "28411811;28832583;30379171;30833945", "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": 0, "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": 0.8, "record_id": "A8MUU9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MVM7-1", "uniprot_id": [ { "id": "YD021_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MVM7", "type": "external" } ], "mass": 73452.0, "length": 634, "protein_name": "Putative uncharacterized protein ENSP00000382790", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ENSP00000382790", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "15146197;29437277;29557506;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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A8MVM7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H5J0-1", "uniprot_id": [ { "id": "ZBTB3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H5J0", "type": "external" } ], "mass": 61827.0, "length": 574, "protein_name": "Zinc finger and BTB domain-containing protein 3", "gene_name": "ZBTB3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZBTB3", "gene_names_refseq": "", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:79842)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;16959974;18452278;18669648;19690332;21406692;23186163;23481700;24275569;24714562;25576301;26992070;28832583;29242379;29508533;31844290;32488085;32502341;32983136;33298915;33633747;33912179;33968037;35051231", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion 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": 2.5, "record_id": "Q9H5J0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2A4-1", "uniprot_id": [ { "id": "ZN443_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2A4", "type": "external" } ], "mass": 77516.0, "length": 671, "protein_name": "Zinc finger protein 443", "gene_name": "ZNF443", "organism": "Human", "refseq_name": "zinc finger protein 443", "refseq_ac": [ { "id": "NP_005806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005806", "type": "external" } ], "gene_names_uniprotkb": "ZNF443", "gene_names_refseq": "ZK1; ZNF443", "protein_names_uniprotkb": "Zinc finger protein 443; Krueppel-type zinc finger protein ZK1", "protein_names_refseq": "Kruppel-type zinc finger (C2H2); krueppel-type zinc finger protein ZK1; zinc finger protein 443", "tax_id": 9606, "disease": "", "pathway": " (hsa:10224); (R-HSA-212436)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "10235266;10330177;11237011;11395415;12215374;14519192;15175151;15896744;16606702;16719718;20220067;2163759;22898188;25576301;26992070;28514659;28832583;29493099;29508533;29557506;31217245;31844290;31848261;32502341;35494241;8183939;8769649;9637681;9653119;9731181", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; The gene expression of ZK1 was down-regulated during early apoptosis of human hepatoma cells exposed to Paeoniae Radix extract in vitro., [RefSeq, PubMed]; Zinc finger proteins (ZNFs) bind DNA and, through this binding, regulate gene transcription. Most ZNFs contain conserved C2H2 motifs and are classified as Kruppel-type zinc fingers. For a general description of these proteins, see ZNF91 (MIM 603971).[supplied by OMIM, Jul 2002]., [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": "", "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:0006915 apoptotic process;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9Y2A4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96H40-1", "uniprot_id": [ { "id": "ZN486_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96H40", "type": "external" } ], "mass": 53631.0, "length": 463, "protein_name": "Zinc finger protein 486", "gene_name": "ZNF486", "organism": "Human", "refseq_name": "zinc finger protein 486", "refseq_ac": [ { "id": "NP_443084", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443084", "type": "external" } ], "gene_names_uniprotkb": "ZNF486; KRBO2", "gene_names_refseq": "KRBO2; ZNF486", "protein_names_uniprotkb": "Zinc finger protein 486; KRAB domain only protein 2", "protein_names_refseq": "KRAB box only protein 2; KRAB domain only 2; KRAB domain only protein 2; zinc finger protein 486", "tax_id": 9606, "disease": "", "pathway": " (hsa:90649); (R-HSA-212436)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25576301;25645385;28832583;29242379;29493099;29786170;30429286;30779550;31844290;31848261;32157095;32983136;33392160;33592498;34185709;35051231;35580925;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q0VG00", "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:0070062 extracellular exosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q96H40-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V71-1", "uniprot_id": [ { "id": "ZN429_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V71", "type": "external" } ], "mass": 78152.0, "length": 674, "protein_name": "Zinc finger protein 429", "gene_name": "ZNF429", "organism": "Human", "refseq_name": "zinc finger protein 429 isoform a", "refseq_ac": [ { "id": "NP_001001415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001415", "type": "external" } ], "gene_names_uniprotkb": "ZNF429", "gene_names_refseq": "ZNF429", "protein_names_uniprotkb": "Zinc finger protein 429", "protein_names_refseq": "zinc finger protein 429 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:353088); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;17924679;19207018;2163759;28467828;29557506;32983136;35580925;36215666;7865130;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "A6NLV7;Q9BZE6", "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:0000122 negative regulation of transcription by RNA polymerase II;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": 2.3, "record_id": "Q86V71-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15014-1", "uniprot_id": [ { "id": "ZN609_HUMAN", "url": "https://www.uniprot.org/uniprot/O15014", "type": "external" } ], "mass": 151191.0, "length": 1411, "protein_name": "Zinc finger protein 609", "gene_name": "ZNF609", "organism": "Human", "refseq_name": "zinc finger protein 609", "refseq_ac": [ { "id": "NP_055857", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055857", "type": "external" } ], "gene_names_uniprotkb": "ZNF609; KIAA0295", "gene_names_refseq": "ZNF609", "protein_names_uniprotkb": "Zinc finger protein 609", "protein_names_refseq": "zinc finger protein 609", "tax_id": 9606, "disease": "", "pathway": " (hsa:23060)", "pathway_count": 1, "publication_count": 96, "publication_id_list": "11237011;16964243;17081983;18212344;18452278;18669648;18767875;19413330;19415658;19651622;19664994;19664995;19690332;20068230;20068231;21406692;23186163;23301498;23481700;24275569;24714562;24715725;25218447;25576301;25645385;25802875;25892735;25921068;26154972;26992070;27846572;27903978;27920218;28218747;28228285;28344082;28514659;28649982;28832583;28834231;28904123;29237092;29242379;29557506;29632711;29769354;29786170;30059200;30429286;30478938;30620550;30779550;30833945;31217245;31492838;31530632;31844290;32157095;32350084;32357974;32387766;32502341;32574038;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33717175;33912179;33943007;33968037;33981976;34019948;34087483;34171305;34561969;34898474;34932366;35051231;35251023;35254053;35289036;35513511;35580925;36010968;36110046;36241641;38253038;38665916;38679361;38906142;39531497;40596516", "class_list": "", "function": "A protein encoded by circular ZNF609 RNA induces acute kidney injury by activating the AKT/mTOR-autophagy pathway. Erratum:[Mol Ther. 2022 Nov 2;30(11):3500. doi: 10.1016/j.ymthe.2022.09.021. PMID: 36202101], [RefSeq, PubMed]; CircRNA ZNF609 promotes angiogenesis in nasopharyngeal carcinoma by regulating miR-145/STMN1 axis., [RefSeq, PubMed]; CircZNF609 inhibits miR-150-5p to promote high glucose-induced damage to retinal microvascular endothelial cells., [RefSeq, PubMed]; Circular RNA circ-ZNF609 is associated with heavy polysomes, and it is translated into a protein in a splicing-dependent and cap-independent manner, resulting in a protein that controls myoblast proliferation., [RefSeq, PubMed]; Involved in the regulation of myoblast proliferation during myogenesis., [UniProtKB, PubMed]; Our current study reveals the role of the circ-ZNF609/miR-138-5p/FOXP4 regulatory network in renal carcinoma and provides a new perspective for the pathogenesis of renal carcinoma., [RefSeq, PubMed]; These findings illustrated that cir-ZNF609 took part in the onset of HSCR through the crosstalk with AKT3 by competing for shared miR-150-5p., [RefSeq, PubMed]; Transcription factor, which activates RAG1, and possibly RAG2, transcription. Through the regulation of RAG1/2 expression, may regulate thymocyte maturation. Along with NIPBL and the multiprotein complex Integrator, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others., [UniProtKB, UniProtKB]; YY1 and eIF4A3 are mediators of the cell proliferation, migration and invasion in cholangiocarcinoma promoted by circ-ZNF609 by targeting miR-432-5p to regulate LRRC1., [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": 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": 45, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q0D2I2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990841 promoter-specific chromatin 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:0045944 positive regulation of transcription by RNA polymerase II;GO:0007517 muscle organ development;GO:2000291 regulation of myoblast proliferation", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O15014-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60290-1", "uniprot_id": [ { "id": "ZN862_HUMAN", "url": "https://www.uniprot.org/uniprot/O60290", "type": "external" } ], "mass": 131654.0, "length": 1169, "protein_name": "Zinc finger protein 862", "gene_name": "ZNF862", "organism": "Human", "refseq_name": "zinc finger protein 862", "refseq_ac": [ { "id": "NP_001092690", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092690", "type": "external" } ], "gene_names_uniprotkb": "ZNF862; KIAA0543", "gene_names_refseq": "GINGF6; ZNF862", "protein_names_uniprotkb": "Zinc finger protein 862", "protein_names_refseq": "zinc finger protein 862", "tax_id": 9606, "disease": "fibromatosis, gingival, 6 (MONDO:MONDO:0975841)", "pathway": " (hsa:643641)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;23481700;24366607;25892735;28832583;28904123;29242379;29557506;29605689;31844290;33214551;33968037;34561969;34932366;35051231;35142290;38482719", "class_list": "", "function": "A novel gene ZNF862 causes hereditary gingival fibromatosis. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; ZNF862 induces cytostasis and apoptosis via the p21-RB1 and Bcl-xL-Caspase 3 signaling pathways in human gingival 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "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": "A0AUL8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046983 protein dimerization activity", "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": 2.0, "record_id": "O60290-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60384-1", "uniprot_id": [ { "id": "ZN861_HUMAN", "url": "https://www.uniprot.org/uniprot/O60384", "type": "external" } ], "mass": 11997.0, "length": 105, "protein_name": "Putative zinc finger protein 861", "gene_name": "ZNF861P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZNF861P", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 861", "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": "", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "O60384-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CG00-1", "uniprot_id": [ { "id": "ZSA5D_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CG00", "type": "external" } ], "mass": 56244.0, "length": 497, "protein_name": "Putative zinc finger and SCAN domain-containing protein 5D", "gene_name": "ZSCAN5DP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZSCAN5DP; ZSCAN5D", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger and SCAN domain-containing protein 5D; Zinc finger and SCAN domain-containing protein 5D pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "33392160", "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: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": 0.2, "record_id": "P0CG00-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P17040-1", "uniprot_id": [ { "id": "ZSC20_HUMAN", "url": "https://www.uniprot.org/uniprot/P17040", "type": "external" } ], "mass": 117541.0, "length": 1043, "protein_name": "Zinc finger and SCAN domain-containing protein 20", "gene_name": "ZSCAN20", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 20 isoform 1", "refseq_ac": [ { "id": "NP_001364305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001364305", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN20; KOX29; ZNF31; ZNF360", "gene_names_refseq": "KOX29; ZFP-31; ZNF31; ZNF360; ZSCAN20", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 20; Zinc finger protein 31; Zinc finger protein 360; Zinc finger protein KOX29", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 20 isoform 1; zinc finger and SCAN domain-containing protein 20; zinc finger protein 31; zinc finger protein 360; zinc finger protein KOX29", "tax_id": 9606, "disease": "", "pathway": " (hsa:7579)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "2288909;23481700;24715725;25576301;26992070;27862975;28218747;28832583;29242379;29437277;29557506;30379171;30429286;31844290;31848261;32157095;32387766;32488085;32938616;33141586;33298915;33592498;33717175;33912179;33968037;34087483;35051231;35580925", "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": 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": "A8K2D0;B1ALI4;B1ALI5;B1ALI6;Q6ZN23;Q96FA9;Q96H84", "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": 3.1, "record_id": "P17040-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59923-1", "uniprot_id": [ { "id": "ZN445_HUMAN", "url": "https://www.uniprot.org/uniprot/P59923", "type": "external" } ], "mass": 118963.0, "length": 1031, "protein_name": "Zinc finger protein 445", "gene_name": "ZNF445", "organism": "Human", "refseq_name": "zinc finger protein 445 isoform 1", "refseq_ac": [ { "id": "NP_852466", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852466", "type": "external" } ], "gene_names_uniprotkb": "ZNF445; ZFP445; ZKSCAN15; ZNF168", "gene_names_refseq": "ZFP445; ZKSCAN15; ZNF168; ZNF445; ZSCAN47", "protein_names_uniprotkb": "Zinc finger protein 445; ZFP445; Zinc finger protein 168; Zinc finger protein with KRAB and SCAN domains 15", "protein_names_refseq": "zinc finger protein 168; zinc finger protein 445 isoform 1; zinc finger protein with KRAB and SCAN domains 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:353274); (R-HSA-212436)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23481700;24715725;25114211;25218447;25576301;25755297;25892735;26154972;26992070;27846572;27862975;27920218;28832583;29242379;29437277;29493099;29557506;29632046;29769354;30410026;30429286;30484775;30602440;31844290;32157095;32265295;32357974;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33592498;33633747;33717175;33912179;33968037;34211107;34932366;35051231;35254053;35318648;35561310;35580925;36010968;36284347;37938771;8183939;8769649;9637681;9653119", "class_list": "", "function": "Transcription regulator required to maintain maternal and paternal gene imprinting, a process by which gene expression is restricted in a parent of origin-specific manner by epigenetic modification of genomic DNA and chromatin, including DNA methylation. Acts by controlling DNA methylation during the earliest multicellular stages of development at multiple imprinting control regions (ICRs) (PubMed:30602440). Acts together with ZFP57, but seems to be the major factor in human early embryonic imprinting maintenance. In contrast, in mice, ZFP57 plays the predominant role in imprinting maintenance (PubMed:30602440)., [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": 27, "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": "Q3MJD1", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0010385 double-stranded methylated 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:0044726 epigenetic programing of female pronucleus;GO:0044027 negative regulation of gene expression via chromosomal CpG island methylation", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "P59923-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61129-1", "uniprot_id": [ { "id": "ZC3H6_HUMAN", "url": "https://www.uniprot.org/uniprot/P61129", "type": "external" } ], "mass": 131670.0, "length": 1189, "protein_name": "Zinc finger CCCH domain-containing protein 6", "gene_name": "ZC3H6", "organism": "Human", "refseq_name": "zinc finger CCCH domain-containing protein 6", "refseq_ac": [ { "id": "NP_940983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940983", "type": "external" } ], "gene_names_uniprotkb": "ZC3H6; KIAA2035; ZC3HDC6", "gene_names_refseq": "ZC3H6; ZC3HDC6", "protein_names_uniprotkb": "Zinc finger CCCH domain-containing protein 6", "protein_names_refseq": "zinc finger CCCH domain-containing protein 6; zinc finger CCCH-type domain containing 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:376940)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "23186163;23481700;26154972;28832583;29242379;29557506;29632711;30315122;30429286;30459171;31154438;31844290;32157095;32502341;32983136;33298915;33968037;33981976;35051231;35580925;36284347;37217939;37938771", "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": 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": 29, "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": "A9JR71;Q6ZW96", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0032785 negative regulation of DNA-templated transcription, elongation", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "P61129-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62699-1", "uniprot_id": [ { "id": "YPEL5_HUMAN", "url": "https://www.uniprot.org/uniprot/P62699", "type": "external" } ], "mass": 13842.0, "length": 121, "protein_name": "Protein yippee-like 5", "gene_name": "YPEL5", "organism": "Human", "refseq_name": "protein yippee-like 5", "refseq_ac": [ { "id": "NP_001120871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120871", "type": "external" } ], "gene_names_uniprotkb": "YPEL5; CGI-127", "gene_names_refseq": "CGI-127; YPEL5", "protein_names_uniprotkb": "Protein yippee-like 5", "protein_names_refseq": "protein yippee-like 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:51646); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11240639;15556292;18991276;20068231;20112406;20508983;20580816;22424782;22544926;23382248;23481700;23650620;23783831;24029068;24715725;25418920;25576301;25645385;26154972;26375851;26768311;26811146;26992070;27543614;27600516;27726376;27846572;27862975;27920218;28063628;28228285;28832583;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29911972;30315122;30429286;30484775;30833945;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33123756;33141586;33298915;33392160;33411363;33592498;33936100;33968037;34171305;34211107;34405274;34509645;34561969;35051231;35561310;35580925;36010968;36241641;36284347;37938771;38665916;8692836", "class_list": "", "function": "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). Required for normal cell proliferation (By similarity)., [UniProtKB, PubMed, UniProtKB]; METTL3/YTHDF2 m6A axis accelerates colorectal carcinogenesis through epigenetically suppressing YPEL5., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results indicate that SCN-iPS cells provide a useful disease model for SCN, and the activation of the Wnt3a/beta-catenin pathway may offer a novel therapy for SCN with ELANE mutation, [RefSeq, PubMed]; YPEL5 protein of the YPEL gene family is involved in the cell cycle progression by interacting with two distinct proteins RanBPM and RanBP10., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D6W568;Q65Z97;Q8R174;Q9D6M1;Q9UMX7;Q9Y3C9", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005813 centrosome;GO:1904813 ficolin-1-rich granule lumen;GO:1904724 tertiary granule lumen", "go_biological_process": "GO:0008283 cell population proliferation;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "P62699-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98169-1", "uniprot_id": [ { "id": "ZXDB_HUMAN", "url": "https://www.uniprot.org/uniprot/P98169", "type": "external" } ], "mass": 84792.0, "length": 803, "protein_name": "Zinc finger X-linked protein ZXDB", "gene_name": "ZXDB", "organism": "Human", "refseq_name": "zinc finger X-linked protein ZXDB", "refseq_ac": [ { "id": "NP_009088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009088", "type": "external" } ], "gene_names_uniprotkb": "ZXDB", "gene_names_refseq": "ZNF905; ZXDB; dJ83L6.1", "protein_names_uniprotkb": "Zinc finger X-linked protein ZXDB", "protein_names_refseq": "zinc finger X-linked protein ZXDB", "tax_id": 9606, "disease": "", "pathway": " (hsa:158586)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "26992070;30429286;31844290;32161166;32938616;33141586;34171305;35051231;8268913", "class_list": "", "function": "Cooperates with CIITA to promote transcription of MHC class I and MHC class II genes., [UniProtKB]; The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 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": 23, "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": "A8K151;Q9UBB3", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0003712 transcription coregulator activity;GO:0070742 C2H2 zinc finger domain binding", "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": 1.0, "record_id": "P98169-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q05996-1", "uniprot_id": [ { "id": "ZP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q05996", "type": "external" } ], "mass": 82357.0, "length": 745, "protein_name": "Zona pellucida sperm-binding protein 2", "gene_name": "ZP2", "organism": "Human", "refseq_name": "zona pellucida sperm-binding protein 2 isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_003451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003451", "type": "external" } ], "gene_names_uniprotkb": "ZP2; ZPA", "gene_names_refseq": "OOMD6; OZEMA6; ZP2; ZPA; Zp-2", "protein_names_uniprotkb": "Zona pellucida sperm-binding protein 2; Zona pellucida glycoprotein 2; Zona pellucida protein A; Zp-2", "protein_names_refseq": "zona pellucida 2; zona pellucida glycoprotein 2 (sperm receptor); zona pellucida glycoprotein ZP2; zona pellucida protein A; zona pellucida sperm-binding protein 2 isoform 1 preproprotein; zona pellucida sperm-binding protein 2", "tax_id": 9606, "disease": "oocyte maturation defect 6 (MONDO:MONDO:0032696)", "pathway": " (hsa:7783); (R-HSA-2534343)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "20364096;23417405;28886344;29895852;34087483;35051231;35366744;35595959;36931917;38490181;8195297;8385033", "class_list": "", "function": "Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy (PubMed:29895852). The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP2 may act as a secondary sperm receptor (PubMed:29895852)., [UniProtKB, PubMed]; Novel Heterozygous Mutations in ZP2 Cause Abnormal Zona Pellucida and Female Infertility., [RefSeq, PubMed]; Novel mutations in ZP2 and ZP3 cause female infertility in three patients., [RefSeq, PubMed]; Novel variants in ZP1, ZP2 and ZP3 associated with empty follicle syndrome and abnormal zona pellucida., [RefSeq, PubMed]; Studies indicate that eggs from mice lacking an ortholog of ZP2 do not contain a zona pellucida (ZP), and the mice are completely infertile due to a severely reduced number of ovulated eggs in their oviducts. Review article, [RefSeq, PubMed]; The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed of three glycoproteins with various functions during fertilization and preimplantation development. The glycosylated mature peptide is one of the structural components of the zona pellucida and functions in secondary binding and penetration of acrosome-reacted spermatozoa. Female mice lacking this gene do not form a stable zona matrix and are sterile. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; ZP2 cleavage blocks polyspermy by modulating the architecture of the egg coat., [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": 3, "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": 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": 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": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R7J2;Q4VAN9;Q4VAP0;Q4VAP1", "ec_number_list": [], "go_molecular_function": "GO:0035804 structural constituent of egg coat;GO:0032190 acrosin binding;GO:0015026 coreceptor activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0005771 multivesicular body", "go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0060468 prevention of polyspermy", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q05996-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5EBM4-1", "uniprot_id": [ { "id": "ZN542_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5EBM4", "type": "external" } ], "mass": 19729.0, "length": 170, "protein_name": "Putative zinc finger protein 542", "gene_name": "ZNF542P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZNF542P; ZNF542", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 542; Zinc finger protein 542 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "28832583;32157095;34932366", "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": "B3KUG2;B4DLV1;Q6N061", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5EBM4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JVG2-1", "uniprot_id": [ { "id": "ZN484_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JVG2", "type": "external" } ], "mass": 98221.0, "length": 852, "protein_name": "Zinc finger protein 484", "gene_name": "ZNF484", "organism": "Human", "refseq_name": "zinc finger protein 484 isoform b", "refseq_ac": [ { "id": "NP_001007102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007102", "type": "external" } ], "gene_names_uniprotkb": "ZNF484", "gene_names_refseq": "BA526D8.4; ZNF484", "protein_names_uniprotkb": "Zinc finger protein 484", "protein_names_refseq": "KRAB box containing C2H2 type zinc finger bA526D8.4; zinc finger protein 484 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:83744); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25880248;26375851;27862975;28832583;28904123;30429286;31844290;32157095;32357974;32938616;35051231;36010968;37217939;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": 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": "B1AL89;B4DRI2", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000976 transcription cis-regulatory region binding", "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": 2.9, "record_id": "Q5JVG2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TC79-1", "uniprot_id": [ { "id": "ZBT37_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TC79", "type": "external" } ], "mass": 56055.0, "length": 503, "protein_name": "Zinc finger and BTB domain-containing protein 37", "gene_name": "ZBTB37", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 37 isoform a", "refseq_ac": [ { "id": "NP_001116242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116242", "type": "external" } ], "gene_names_uniprotkb": "ZBTB37", "gene_names_refseq": "D430004I08Rik; ZBTB37; ZNF908", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 37", "protein_names_refseq": "zinc finger and BTB domain-containing protein 37 isoform a; zinc finger and BTB domain-containing protein 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:84614)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "19240061;23481700;24715725;25892735;27600516;30379171;30410026;31154438;31844290;32387766;32488085;32502341;32938616;33936100;33968037;34087483;35051231", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": "Q5TC80;Q96M87;Q9BQ88", "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:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0002682 regulation of immune system process;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q5TC79-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VV52-2", "uniprot_id": [ { "id": "ZN691_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VV52", "type": "external" } ], "mass": 35810.0, "length": 315, "protein_name": "Zinc finger protein 691", "gene_name": "ZNF691", "organism": "Human", "refseq_name": "zinc finger protein 691 isoform 1", "refseq_ac": [ { "id": "NP_001229668", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229668", "type": "external" } ], "gene_names_uniprotkb": "ZNF691", "gene_names_refseq": "ZNF691; Zfp691", "protein_names_uniprotkb": "Zinc finger protein 691", "protein_names_refseq": "zinc finger protein 691 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51058); (R-HSA-212436)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10.1101/2023.09.13.557529;10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23186163;25218447;27920218;28832583;28834231;30379171;31844290;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": 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": 14, "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": "A8MXP6;B4DJR7;O95878;Q9NWE8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q5VV52-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NSZ9-1", "uniprot_id": [ { "id": "ZSC25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NSZ9", "type": "external" } ], "mass": 61474.0, "length": 544, "protein_name": "Zinc finger and SCAN domain-containing protein 25", "gene_name": "ZSCAN25", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 25 isoform a", "refseq_ac": [ { "id": "NP_660090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660090", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN25; ZNF498", "gene_names_refseq": "ZNF498; ZSCAN25", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 25; Zinc finger protein 498", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 25 isoform a; zinc finger and SCAN domain-containing protein 25; zinc finger protein 498", "tax_id": 9606, "disease": "", "pathway": " (hsa:221785); (R-HSA-212436)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;25645385;25755297;27846572;27920218;28218747;28228285;28904123;29393594;29437277;29632046;30315122;30379171;30429286;31217245;31530632;31844290;31848261;32157095;32161166;32387766;32488085;32897882;32938616;33691108;33936100;34185709;35051231;35227287;36010968;36241641;38166538;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; ZNF498 promotes hepatocellular carcinogenesis by suppressing p53-mediated apoptosis and ferroptosis via the attenuation of p53 Ser46 phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; ZSCAN25 methylation predicts seizures and severe alcohol withdrawal syndrome., [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": 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": "A4D290;D6W5T5;Q14C82;Q14C99;Q5EBM9;Q6DJZ0;Q6N032;Q6ZML3", "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": 4.8, "record_id": "Q6NSZ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXP9-1", "uniprot_id": [ { "id": "YO001_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXP9", "type": "external" } ], "mass": 19777.0, "length": 181, "protein_name": "Putative uncharacterized protein UNQ9370/PRO34162", "gene_name": "PRO34162", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRO34162", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein UNQ9370/PRO34162", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "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": 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": "Q6UXP9-1", "record_type": "protein", "filter_code": 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"0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FA7-1", "uniprot_id": [ { "id": "ZB10P_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FA7", "type": "external" } ], "mass": 26352.0, "length": 236, "protein_name": "Putative protein ZBED10P", "gene_name": "ZBED10P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZBED10P; C7orf29; ZBED6CL", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein ZBED10P; ZBED6 C-terminal-like protein; zinc finger BED-type containing 10 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "23533661;26811146;32938616", "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, 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"go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96FA7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96ME7-1", "uniprot_id": [ { "id": "ZN512_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96ME7", "type": "external" } ], "mass": 64682.0, "length": 567, "protein_name": "Zinc finger protein 512", "gene_name": "ZNF512", "organism": "Human", "refseq_name": "zinc finger protein 512 isoform b", "refseq_ac": [ { "id": "NP_001258215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258215", "type": "external" } ], "gene_names_uniprotkb": "ZNF512; KIAA1805", "gene_names_refseq": "ZNF512", "protein_names_uniprotkb": "Zinc finger protein 512", "protein_names_refseq": "zinc finger protein 512 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:84450)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;19007248;23481700;25218447;25576301;25892735;26154972;26992070;27301951;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29557506;29769354;29786170;30379171;30567526;31154438;31217245;31844290;32157095;32357974;32983136;33912179;33968037;34171305;34725712;35051231;35318648;36010968;36284347;37217939;38665916;40596516", "class_list": "", "function": "MFSD2B, CCL20 and STAT1, or STARD7 and ZNF512 genes may be risk or protect factors in prognosis of ADC; HTR2B, DPP4, and TGFBRAP1 genes may be risk factors in prognosis of SQC., [RefSeq, PubMed]; Risk (C) allele of the SNP (rs2275294) in the ZNF512B gene, cervical flexor muscle power and body weight index might have clinical potential for amyotrophic lateral sclerosis prognostication Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific DNA-binding protein that recognizes repetitive and non-consecutive TTC sequences in pericentric repeat and initiates heterochromatin formation through interaction with SUV39H1/2 methyltransferases which catalyze histone H3K9 methylation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein containing four putative zinc finger motifs. Zinc finger motifs may bind to proteins or nucleic acids. Zinc finger-containing proteins are involved in a variety of processes, including regulation of transcription. Alternative splicing results in multiple transcript variants for this gene. [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": 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": 12, "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": "B4DSM5;Q53RZ7;Q86XK6;Q96JM0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005721 pericentric heterochromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0140719 constitutive heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q96ME7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QA6-1", "uniprot_id": [ { "id": "YPEL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QA6", "type": "external" } ], "mass": 13577.0, "length": 119, "protein_name": "Protein yippee-like 2", "gene_name": "YPEL2", "organism": "Human", "refseq_name": "protein yippee-like 2", "refseq_ac": [ { "id": "NP_001005404", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005404", "type": "external" } ], "gene_names_uniprotkb": "YPEL2; FKSG4; YPEL", "gene_names_refseq": "FKSG4; YPEL2", "protein_names_uniprotkb": "Protein yippee-like 2", "protein_names_refseq": "DiGeorge syndrome-related protein; protein yippee-like 2", "tax_id": 9606, "disease": "chromosome 16p11.2 deletion syndrome, 593-kb (Disease Ontology:DOID:0070515)", "pathway": " (hsa:388403)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;15556292;19107206;20056645;20508983;22771904;26992070;29485866;30429286;32157095;32938616;33022222;33141586;33298915;33912179;33936100;33968037;34509645;35051231;35251023;35561310;35580925;36284347;36963468", "class_list": "", "function": "A novel role for YPEL2 in mediating endothelial cellular senescence via the p53/p21 pathway., [RefSeq, 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, PubMed]; Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa., [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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0PK16;A2RUG4;Q65ZA0;Q8N3W2", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q96QA6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96SZ4-1", "uniprot_id": [ { "id": "ZSC10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96SZ4", "type": "external" } ], "mass": 86752.0, "length": 780, "protein_name": "Zinc finger and SCAN domain-containing protein 10", "gene_name": "ZSCAN10", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 10 isoform 2", "refseq_ac": [ { "id": "NP_001269344", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269344", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN10; ZNF206", "gene_names_refseq": "OFNS; ZFP206; ZNF206; ZSCAN10", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 10; Zinc finger protein 206", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 10 isoform 2; zinc finger and SCAN domain-containing protein 10; zinc finger protein 206", "tax_id": 9606, "disease": "otofacial neurodevelopmental syndrome (MONDO:MONDO:0975705)", "pathway": " (hsa:84891); (R-HSA-452723)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "11237011;12787505;14688391;15108323;15277698;15342930;15493035;15513931;15582778;15625129;15695770;15743839;15860457;15983365;15988017;16153702;16978057;17068183;17204602;17267691;17506876;17567999;17572666;17628018;18029452;18035408;18212089;18824471;19151334;19489980;19522013;19604364;19688839;19755485;19829295;19966271;20027182;20505756;20505821;20837710;20953172;21406692;21630377;21924763;22011711;22210884;22215994;22327294;22911660;22988117;23178592;23827706;23827708;26797129;28510447;28846095;38386308;9000051", "class_list": "", "function": "Data indicates that changes in DNA methylation levels at the Zfp206-exon 5 might be one of the important factors during neuronal development in mice and the hypomethylation of the homologous region induced ZNF206 expression in humans., [RefSeq, PubMed]; Embryonic stem (ES) cell-specific transcription factor required to maintain ES cell pluripotency. Can both activate and /or repress expression of target genes, depending on the context. Specifically binds the 5'-[GA]CGCNNGCG[CT]-3' DNA consensus sequence. Regulates expression of POU5F1/OCT4, ZSCAN4 and ALYREF/THOC4., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The pluripotency factor ZSCAN10 is poorly expressed in A-iPSCs and addition of ZSCAN10 to the four Yamanaka factors (OCT4, SOX2, KLF4 and c-MYC) during A-iPSC reprogramming normalizes ROS-glutathione homeostasis and the DNA damage response, and recovers genomic stability. Erratum:[Nat Cell Biol. 2019 Apr;21(4):531-532. doi: 10.1038/s41556-018-0269-y. PMID: 30643186], [RefSeq, PubMed]; We demonstrated that SLC16A5 and ZNF206 displayed altered methylation patterns in the neuroblastoma genome, [RefSeq, PubMed]; ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B3KQD3;H0YFS6;Q1WWM2", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;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:0043565 sequence-specific 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:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q96SZ4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTP6-1", "uniprot_id": [ { "id": "ZBED2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTP6", "type": "external" } ], "mass": 25122.0, "length": 218, "protein_name": "Zinc finger BED domain-containing protein 2", "gene_name": "ZBED2", "organism": "Human", "refseq_name": "zinc finger BED domain-containing protein 2", "refseq_ac": [ { "id": "NP_078784", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078784", "type": "external" } ], "gene_names_uniprotkb": "ZBED2", "gene_names_refseq": "ZBED2", "protein_names_uniprotkb": "Zinc finger BED domain-containing protein 2", "protein_names_refseq": "zinc finger BED domain-containing protein 2; zinc finger, BED domain containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79413)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "29493099;31552090;32383616;32385160;32983136", "class_list": "", "function": "Transcriptional regulator which has intrinsic repressor activity and which competes with the transcriptional activator IRF1 for binding to the 5'-[CA]GAA[AC]C[CT]-3' consensus sequence in gene promoters (PubMed:32385160). May thereby play a role in keratinocyte differentiation (PubMed:31552090)., [UniProtKB, PubMed, PubMed]; ZBED2 is an antagonist of interferon regulatory factor 1 and modifies cell identity in pancreatic 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": 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": "D3DN62", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion 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:0000976 transcription cis-regulatory region 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:0045618 positive regulation of keratinocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9BTP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0D3-1", "uniprot_id": [ { "id": "ZY11B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0D3", "type": "external" } ], "mass": 83921.0, "length": 744, "protein_name": "Protein zyg-11 homolog B", "gene_name": "ZYG11B", "organism": "Human", "refseq_name": "protein zyg-11 homolog B isoform 1", "refseq_ac": [ { "id": "NP_078922", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_078922", "type": "external" } ], "gene_names_uniprotkb": "ZYG11B; KIAA1730", "gene_names_refseq": "ZYG11B; ZYG11", "protein_names_uniprotkb": "Protein zyg-11 homolog B", "protein_names_refseq": "protein zyg-11 homolog B isoform 1; protein zyg-11 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:79699)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "17304241;23481700;24366607;24715725;25576301;25645385;25880248;26154972;26375851;26811146;26992070;27600516;27810909;27846572;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29786170;30315122;30379171;30410026;30429286;30524438;30779550;31154438;31217245;31273098;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33093214;33123756;33141586;33298915;33392160;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34214466;34357683;34405274;34509645;34932366;35051231;35580925;35636250;35695891;36010968;36215666;36241641;36284347;36496439;36847071;36933219", "class_list": "", "function": "A close shave: How SARS-CoV-2 induces the loss of cilia., [RefSeq, PubMed]; LncRNA LINC01871 sponging miR-142-3p to modulate ZYG11B promotes the chemoresistance of colorectal cancer cells by inducing autophagy., [RefSeq, PubMed]; Molecular basis for recognition of Gly/N-degrons by CRL2(ZYG11B) and CRL2(ZER1)., [RefSeq, PubMed]; Serves as substrate adapter subunit in the E3 ubiquitin ligase complex ZYG11B-CUL2-Elongin BC. Acts to target substrates bearing N-terminal degrons for proteasomal degradation with the first four residues of substrates being the key recognition elements (PubMed:33093214, PubMed:34214466, PubMed:35636250). Prefers Nt-Gly but also has the capacity to recognize Nt-Ser, -Ala and -Cys (PubMed:36496439). Involved in the clearance of proteolytic fragments generated by caspase cleavage during apoptosis since N-terminal glycine degrons are strongly enriched at caspase cleavage sites. Also important in the quality control of protein N-myristoylation in which N-terminal glycine degrons are conditionally exposed after a failure of N-myristoylation (PubMed:31273098). In addition, plays a role in the amplification of cGAS to enhance innate immune response. Mechanistically, strengthens the processes of cGAS binding with dsDNA and assembling oligomers and also accelerates and stabilizes cGAS-DNA condensation, thereby enhancing production of antiviral IFNs and inflammatory cytokines (PubMed:36933219)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Structural insights into ORF10 recognition by ZYG11B., [RefSeq, PubMed]; The ubiquitin ligase CRL2(ZYG-11) redundantly targets the degradation of cyclin B1 in Caenorhabditis elegans and human 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": 6, "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": "Q8N2X3;Q9H8L8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0006515 protein quality control for misfolded or incompletely synthesized proteins", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q9C0D3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0D7-1", "uniprot_id": [ { "id": "ZC12C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0D7", "type": "external" } ], "mass": 99340.0, "length": 883, "protein_name": "Probable ribonuclease ZC3H12C", "gene_name": "ZC3H12C", "organism": "Human", "refseq_name": "probable ribonuclease ZC3H12C isoform 1", "refseq_ac": [ { "id": "NP_203748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_203748", "type": "external" } ], "gene_names_uniprotkb": "ZC3H12C; KIAA1726; MCPIP3", "gene_names_refseq": "MCPIP3; ZC3H12C", "protein_names_uniprotkb": "Probable ribonuclease ZC3H12C; 3.1.-.-; MCP-induced protein 3; Zinc finger CCCH domain-containing protein 12C", "protein_names_refseq": "MCP-induced protein 3; probable ribonuclease ZC3H12C isoform 1; probable ribonuclease ZC3H12C; zinc finger CCCH domain-containing protein 12C", "tax_id": 9606, "disease": "", "pathway": " (hsa:85463)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "11237011;18178554;18669648;23360436;23481700;25391383;25505266;27846572;28657654;28832583;29242379;29508533;30315122;31844290;32157095;32488085;32502341;32938616;32983136;33141586;33298915;33592498;34215755;34932366;35051231;35154160;35254053;35580925;39531497", "class_list": "", "function": "MCPIP1, 2, 3, and 4, encoded by four genes, Zc3h12a, Zc3h12b, Zc3h12c, and Zc3h12d, respectively, regulates macrophage activation., [RefSeq, PubMed]; May function as RNase and regulate the levels of target RNA species., [UniProtKB]; The Gene-based analyses revealed four significant associations in the WT1, ZC3H12C, DLGAP2, and GPR1 genes at p < 0.05. in this study., [RefSeq, PubMed]; The RNase MCPIP3 promotes skin inflammation by orchestrating myeloid cytokine response. Publication Status: Online-Only, [RefSeq, PubMed]; Thus Zc3h12c is an endogenous inhibitor of TNFalpha-induced inflammatory signalling in HUVECs and might be a therapeutic target in vascular inflammatory 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": 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": 23, "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": "B4DI65;B4DR47", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0004521 RNA endonuclease activity;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0061158 3'-UTR-mediated mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q9C0D7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7R0-1", "uniprot_id": [ { "id": "ZN442_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7R0", "type": "external" } ], "mass": 72863.0, "length": 627, "protein_name": "Zinc finger protein 442", "gene_name": "ZNF442", "organism": "Human", "refseq_name": "zinc finger protein 442 isoform 1", "refseq_ac": [ { "id": "NP_110451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110451", "type": "external" } ], "gene_names_uniprotkb": "ZNF442", "gene_names_refseq": "ZNF442", "protein_names_uniprotkb": "Zinc finger protein 442", "protein_names_refseq": "zinc finger protein 442 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79973); (R-HSA-212436)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16959974;21248752;2163759;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": "B4DJ48", "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_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9H7R0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCJ5-1", "uniprot_id": [ { "id": "ZSWM6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCJ5", "type": "external" } ], "mass": 133470.0, "length": 1215, "protein_name": "Zinc finger SWIM domain-containing protein 6", "gene_name": "ZSWIM6", "organism": "Human", "refseq_name": "zinc finger SWIM domain-containing protein 6", "refseq_ac": [ { "id": "NP_065979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065979", "type": "external" } ], "gene_names_uniprotkb": "ZSWIM6; KIAA1577", "gene_names_refseq": "AFND; NEDMAGA; ZSWIM6", "protein_names_uniprotkb": "Zinc finger SWIM domain-containing protein 6", "protein_names_refseq": "zinc finger SWIM domain-containing protein 6; zinc finger, SWIM domain containing 6", "tax_id": 9606, "disease": "acromelic frontonasal dysostosis (Disease Ontology:DOID:0060342); neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (MONDO:MONDO:0060642)", "pathway": " (hsa:57688)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "23481700;24715725;25105228;25576301;25645385;25892735;26154972;26375851;26566883;26706854;26758079;26992070;28514659;28832583;28834231;29198722;29242379;29393594;29557506;29769354;29786170;30379171;30429286;31154438;31217245;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33392160;33633747;33691108;33912179;33968037;34561969;35051231;35580925;35970861;36010968;36284347", "class_list": "", "function": "A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families, comprising two sporadic subjects (one of whom had no limb malformation) and a mildly affected female with a severely affected son, [RefSeq, PubMed]; Classification of early age facial growth pattern and identification of the genetic basis in two Korean populations. Publication Status: Online-Only, [RefSeq, PubMed]; Exome sequencing of one trio and two unrelated probands revealed the same heterozygous variant (c.3487C>T [p. Arg1163Trp])associated with acromelic frontonasal dysostosis in a highly conserved protein domain of ZSWIM6; this variant has not been seen in the 1000 Genomes data, dbSNP, or the Exome Sequencing Project, [RefSeq, PubMed]; The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]., [RefSeq]; This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes., [RefSeq, PubMed]; involved in nervous system development, important for striatal morphology and motor regulation., [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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0021773 striatal medium spiny neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9HCJ5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1D8-1", "uniprot_id": [ { "id": "YP008_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1D8", "type": "external" } ], "mass": 6607.0, "length": 64, "protein_name": "Putative uncharacterized protein PRO2289", "gene_name": "PRO2289", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRO2289", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PRO2289", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "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": 0, "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": 0.5, "record_id": "Q9P1D8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UFV3-1", "uniprot_id": [ { "id": "YO007_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UFV3", "type": "external" } ], "mass": 14889.0, "length": 132, "protein_name": "Putative uncharacterized protein DKFZp434L187", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein DKFZp434L187", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "30524438", "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": "Q9UFV3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UI25-1", "uniprot_id": [ { "id": "YP002_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UI25", "type": "external" } ], "mass": 6971.0, "length": 63, "protein_name": "Putative uncharacterized protein PRO0461", "gene_name": "PRO0461", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRO0461", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein PRO0461", "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": "Q9UI25-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULJ3-1", "uniprot_id": [ { "id": "ZBT21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULJ3", "type": "external" } ], "mass": 118870.0, "length": 1066, "protein_name": "Zinc finger and BTB domain-containing protein 21", "gene_name": "ZBTB21", "organism": "Human", "refseq_name": "zinc finger and BTB domain-containing protein 21 isoform L", "refseq_ac": [ { "id": "NP_001091872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091872", "type": "external" } ], "gene_names_uniprotkb": "ZBTB21; KIAA1227; ZNF295", "gene_names_refseq": "ZBTB21; ZNF295", "protein_names_uniprotkb": "Zinc finger and BTB domain-containing protein 21; Zinc finger protein 295", "protein_names_refseq": "zinc finger and BTB domain-containing protein 21 isoform L; zinc finger and BTB domain-containing protein 21; zinc finger protein 295", "tax_id": 9606, "disease": "", "pathway": " (hsa:49854)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15302935;15629158;17081983;17322306;17525332;18077418;18452278;18669648;19007248;19413330;19651622;19690332;20068231;21406692;23186163;23481700;24275569;24715725;25114211;25218447;25505266;25576301;25755297;25772364;25880248;26154972;26992070;27058226;27846572;27920218;28218747;28228285;28411811;28832583;28834231;28904123;29158487;29242379;29393594;29508533;29557506;29632711;29786170;30315122;30379171;30429286;30620550;31092671;31373491;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34509645;34932366;35051231;35132862;35254053;35289036;35580925;36010968;36215666;38253038;39531497;39534244;40307207;40596516", "class_list": "", "function": "Acts as a transcription repressor., [UniProtKB, PubMed]; Genotyping was accomplished on Infinium Human610-QUAD version 1. In the ilSIRENTE population, genetic variants in ZNF295 and C2CD2 (rs928874 and rs1788355) on chromosome 21q22.3, were significantly associated with the 4-meter gait speed Publication Status: Online-Only, [RefSeq, PubMed]; ZNF295 may be involved in the bi-directional control of gene expression in concert with ZFP161, [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": 1, "reported_o_glycosites_with_glycan": 6, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 6, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "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": "Q5R2W1;Q5R2W2;Q6P4R0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0008327 methyl-CpG binding", "go_cellular_component": "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:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9ULJ3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2H8-1", "uniprot_id": [ { "id": "ZN510_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2H8", "type": "external" } ], "mass": 79142.0, "length": 683, "protein_name": "Zinc finger protein 510", "gene_name": "ZNF510", "organism": "Human", "refseq_name": "zinc finger protein 510 isoform 1", "refseq_ac": [ { "id": "NP_001300988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001300988", "type": "external" } ], "gene_names_uniprotkb": "ZNF510; KIAA0972", "gene_names_refseq": "ZNF510", "protein_names_uniprotkb": "Zinc finger protein 510", "protein_names_refseq": "zinc finger protein 510 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:22869); (R-HSA-212436)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;19030899;21497587;2163759;22645359;23481700;24714562;26375851;26728094;26992070;28228285;28832583;28834231;29493099;29508533;29557506;29632711;29786170;30429286;31844290;32387766;32502341;32983136;33633747;33717175;33912179;33968037;34087483;34171305;35580925;8183939;8769649;9637681;9653119", "class_list": "", "function": "Identifying 24-mer ZNF510 peptide as oral squamous cell carcinoma -related salivary biomarkers via proteomic approach proved useful in adjunct diagnosis for early detection rather than specific diagnosis marker for progression of OSCC patients, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; The present results suggest that the genomic region containing the ZNP510 and ZNP782 genes is an ethnic specific locus associated with stature variation in Chinese. GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers. [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": 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": "Q5SZP5", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion 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": 4.2, "record_id": "Q9Y2H8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NFI3-1", "uniprot_id": [ { "id": "ZN316_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NFI3", "type": "external" } ], "mass": 108437.0, "length": 1004, "protein_name": "Zinc finger protein 316", "gene_name": "ZNF316", "organism": "Human", "refseq_name": "zinc finger protein 316", "refseq_ac": [ { "id": "NP_001265488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265488", "type": "external" } ], "gene_names_uniprotkb": "ZNF316", "gene_names_refseq": "MZF-3; ZNF316", "protein_names_uniprotkb": "Zinc finger protein 316", "protein_names_refseq": "zinc finger protein 316", "tax_id": 9606, "disease": "", "pathway": " (hsa:100131017)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;19369195;20068231;21406692;23186163;23481700;24715725;25505266;26992070;27846572;28218747;28832583;28904123;29242379;29393594;29557506;29632046;30192525;30315122;31154438;31844290;31998317;32157095;32350084;32357974;32488085;32983136;33141586;33298915;33912179;33936100;33968037;34171305;34932366;35051231;35580925;38665916", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion 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_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": 4.0, "record_id": "A6NFI3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2A288-1", "uniprot_id": [ { "id": "ZC12D_HUMAN", "url": "https://www.uniprot.org/uniprot/A2A288", "type": "external" } ], "mass": 58078.0, "length": 527, "protein_name": "Probable ribonuclease ZC3H12D", "gene_name": "ZC3H12D", "organism": "Human", "refseq_name": "probable ribonuclease ZC3H12D", "refseq_ac": [ { "id": "NP_997243", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997243", "type": "external" } ], "gene_names_uniprotkb": "ZC3H12D; C6orf95; MCPIP4; TFL", "gene_names_refseq": "C6orf95; MCPIP4; TFL; ZC3H12D; dJ281H8.1; p34", "protein_names_uniprotkb": "Probable ribonuclease ZC3H12D; 3.1.-.-; MCP-induced protein 4; Transformed follicular lymphoma; Zinc finger CCCH domain-containing protein 12D; p34", "protein_names_refseq": "Zinc finger CCCH domain-containing protein 12D; probable ribonuclease ZC3H12D; transformed follicular lymphoma; tumor suppressor TFL", "tax_id": 9606, "disease": "", "pathway": " (hsa:340152)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;17210687;17854321;18178554;19531561;23481700;24715725;25548167;25576301;26059755;26134560;26375851;26992070;27472830;27846572;27862975;27920218;28832583;29242379;29508533;29632046;29786170;31217245;31844290;31848261;31998317;32502341;32938616;33141586;33298915;33717175;34357683;34545456;35051231;35561310", "class_list": "", "function": "Long non-coding RNA FOXP4-AS1 facilitates the biological functions of hepatocellular carcinoma cells via downregulating ZC3H12D by mediating H3K27me3 through recruitment of EZH2., [RefSeq, PubMed]; MCPIP1 and MCPIP4 form a complex but they act independently in regulation of IL-6 mRNA degradation., [RefSeq, PubMed]; MCPIP1, 2, 3, and 4, encoded by four genes, Zc3h12a, Zc3h12b, Zc3h12c, and Zc3h12d, respectively, regulates macrophage activation., [RefSeq, PubMed]; May regulate cell growth likely by suppressing RB1 phosphorylation (PubMed:19531561). May function as RNase and regulate the levels of target RNA species (Potential). In association with ZC3H12A enhances the degradation of interleukin IL-6 mRNA level in activated macrophages (PubMed:26134560). Serve as a tumor suppressor in certain leukemia cells (PubMed:17210687). Overexpression inhibits the G1 to S phase progression through suppression of RB1 phosphorylation (PubMed:19531561)., [UniProtKB, PubMed, PubMed, PubMed]; Overexpression of ZC3H12D increases the turnover rate of transcripts containing ZC3H12A 3'UTR., [RefSeq, PubMed]; The data indicated that ZC3H12D could suppress both the initial inflammation storm and chronic inflammation by targeting the mRNA of cytokines as well as NF-kappaB and c-fos., [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": 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": "A1L178;B2RXF4;B7WNU7;B9ZZP9;B9ZZQ0;Q6ZRW2", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0016787 hydrolase activity;GO:0004521 RNA endonuclease activity;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000932 P-body;GO:0036464 cytoplasmic ribonucleoprotein granule", "go_biological_process": "GO:0030308 negative regulation of cell growth;GO:2000134 negative regulation of G1/S transition of mitotic cell cycle;GO:0061158 3'-UTR-mediated mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "A2A288-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MT66-1", "uniprot_id": [ { "id": "YU005_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MT66", "type": "external" } ], "mass": 19292.0, "length": 165, "protein_name": "Putative uncharacterized protein ENSP00000383407", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ENSP00000383407", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "24715725;31217245;31492838", "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": 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": 0.6, "record_id": "A8MT66-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MWP4-1", "uniprot_id": [ { "id": "YU008_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MWP4", "type": "external" } ], "mass": 24535.0, "length": 228, "protein_name": "Putative uncharacterized protein ENSP00000401716", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein ENSP00000401716", "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A8MWP4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBT7-1", "uniprot_id": [ { "id": "ZN287_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBT7", "type": "external" } ], "mass": 88339.0, "length": 761, "protein_name": "Zinc finger protein 287", "gene_name": "ZNF287", "organism": "Human", "refseq_name": "zinc finger protein 287 isoform a", "refseq_ac": [ { "id": "NP_001333096", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333096", "type": "external" } ], "gene_names_uniprotkb": "ZNF287; ZKSCAN13", "gene_names_refseq": "ZKSCAN13; ZNF287; ZSCAN45", "protein_names_uniprotkb": "Zinc finger protein 287; Zinc finger protein with KRAB and SCAN domains 13", "protein_names_refseq": "zinc finger protein 287 isoform a; zinc finger protein with KRAB and SCAN domains 13", "tax_id": 9606, "disease": "", "pathway": " (hsa:57336); (R-HSA-212436)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;31844290;32157095;32502341;32938616;33592498;34185709;35051231;35580925;36010968;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; This gene encodes a member of the krueppel family of zinc finger proteins, suggesting a role as a transcription factor. Its specific function has not been determined. This gene is located near the Smith-Magenis syndrome region on chromosome 17. [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IAG1", "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": 2.4, "record_id": "Q9HBT7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N141-1", "uniprot_id": [ { "id": "ZFP82_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N141", "type": "external" } ], "mass": 62578.0, "length": 532, "protein_name": "Zinc finger protein 82 homolog", "gene_name": "ZFP82", "organism": "Human", "refseq_name": "zinc finger protein 82 homolog isoform 1", "refseq_ac": [ { "id": "NP_597723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_597723", "type": "external" } ], "gene_names_uniprotkb": "ZFP82; KIAA1948; ZNF545", "gene_names_refseq": "ZFP82; ZNF545", "protein_names_uniprotkb": "Zinc finger protein 82 homolog; Zfp-82; Zinc finger protein 545", "protein_names_refseq": "zinc finger protein 545; zinc finger protein 82 homolog isoform 1; zinc finger protein 82 homolog; zinc finger protein 85", "tax_id": 9606, "disease": "", "pathway": " (hsa:284406)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;22580414;25360542;25576301;25714013;26375851;26992070;28677721;28832583;29242379;29493099;30211622;30429286;30779550;31165610;31844290;32157095;32387766;32938616;33392160;33592498;35051231;35561310;35580925;36010968", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; The results suggested that ZNF545 functions as a tumor suppressor in colorectal cancer and is frequently inactivated by promoter methylation., [RefSeq, PubMed]; These findings indicated that the methylated CpG sites of the ZNF545 promoter could be used for the clinical prediction of the prognosis of gastric cancer, [RefSeq, PubMed]; ZFP82 is a tumor suppressor and is disrupted by promoter CpG methylation during esophageal carcinogenesis., [RefSeq, PubMed]; ZNF545 acts as a functional tumour suppressor in gastric cancer by inhibiting rRNA transcription., [RefSeq, PubMed]; ZNF545 inhibits breast tumor cell proliferation through inducing apoptosis and is disrupted by promoter methylation in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF545 protein promoted the apoptosis of myeloma 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": 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": "Q8NC63;Q8TF53", "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": 2.6, "record_id": "Q8N141-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60481-1", "uniprot_id": [ { "id": "ZIC3_HUMAN", "url": "https://www.uniprot.org/uniprot/O60481", "type": "external" } ], "mass": 50569.0, "length": 467, "protein_name": "Zinc finger protein ZIC 3", "gene_name": "ZIC3", "organism": "Human", "refseq_name": "zinc finger protein ZIC 3 isoform 2", "refseq_ac": [ { "id": "NP_001317590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317590", "type": "external" } ], "gene_names_uniprotkb": "ZIC3; ZNF203", "gene_names_refseq": "HTX1; HTX; VACTERLX; ZIC3; ZNF203", "protein_names_uniprotkb": "Zinc finger protein ZIC 3; Zinc finger protein 203; Zinc finger protein of the cerebellum 3", "protein_names_refseq": "Zic family member 3 (odd-paired homolog, Drosophila); heterotaxy 1; zinc finger protein 203; zinc finger protein ZIC 3 isoform 2; zinc finger protein ZIC 3; zinc finger protein of the cerebellum 3", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545); visceral heterotaxy 1 (Disease Ontology:DOID:0051016); right atrial isomerism (Disease Ontology:DOID:0060856); spina bifida (Disease Ontology:DOID:0080016); X-linked VACTERL association (Disease Ontology:DOID:0111766); Goldenhar syndrome (Disease Ontology:DOID:2907); holoprosencephaly (Disease Ontology:DOID:4621); visceral heterotaxy 5 (Disease Ontology:DOID:758)", "pathway": " (hsa:7547); (R-HSA-2892247); (R-HSA-452723)", "pathway_count": 3, "publication_count": 101, "publication_id_list": "10209961;11751684;11855863;12065233;12787505;14681828;14688391;15108323;15277698;15342930;15342941;15493035;15513931;15582778;15625129;15695770;15743839;15860457;15955829;15983365;15988017;16153702;16397896;16670092;16846370;16862074;16954206;16959974;16978057;17068183;1715580;17204602;17267691;17295247;17506876;17567999;17572666;17628018;17764085;18029452;18035408;18212089;18366076;18388306;18653770;18716025;18824471;19128516;19151334;19266028;19440552;19489980;19522013;19544431;19604364;19688839;19696931;19755485;19829295;19966271;20027182;20452998;20505756;20505821;20526341;20549704;20616345;20624125;20837710;20872845;20953172;21049019;21630377;21858219;21924763;22210884;22215994;22327294;22887036;22988117;23178592;23827706;23827708;24123890;24218367;28832583;28834231;30524438;30898623;32157095;32387766;32639022;36215666;36567274;38091851;39358345;7545930;7688835;9000051;9354794;9807024", "class_list": "", "function": "A novel ZIC3 mutation in a Chinese family with heterotaxy and multiple types of congenital heart defect., [RefSeq, PubMed]; Acts as a transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'., [UniProtKB, PubMed]; Data show that transcript, termed Zic3-B, encompasses exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3., [RefSeq, PubMed]; Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3., [RefSeq, PubMed]; MiR-155-5p inhibits the viability of vascular smooth muscle cell via targeting FOS and ZIC3 to promote aneurysm formation, [RefSeq, PubMed]; This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]., [RefSeq]; ZIC2 and ZIC3 promote SWI/SNF recruitment to safeguard progression towards human primed pluripotency. Publication Status: Online-Only, [RefSeq, PubMed]; Zic family member 3 attenuates oxidative stress-induced vascular smooth muscle cell apoptosis in patients with chronic kidney disease., [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": 15, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2CNW4;Q14DE5;Q5JY75", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0003713 transcription coactivator activity;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:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:1904888 cranial skeletal system development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0048863 stem cell differentiation;GO:0021766 hippocampus development;GO:0030324 lung development", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O60481-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7U3-1", "uniprot_id": [ { "id": "ZH11B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7U3", "type": "external" } ], "mass": 41895.0, "length": 371, "protein_name": "Probable palmitoyltransferase ZDHHC11B", "gene_name": "ZDHHC11B", "organism": "Human", "refseq_name": "probable palmitoyltransferase ZDHHC11B", "refseq_ac": [ { "id": "NP_001338232", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001338232", "type": "external" } ], "gene_names_uniprotkb": "ZDHHC11B", "gene_names_refseq": "DHHC-11B; ZDHHC11B", "protein_names_uniprotkb": "Probable palmitoyltransferase ZDHHC11B; 2.3.1.225; DHHC-11B; Zinc finger DHHC domain-containing protein 11B", "protein_names_refseq": "probable palmitoyltransferase ZDHHC11B; zinc finger DHHC domain-containing protein 11B; zinc finger DHHC-type containing 11B", "tax_id": 9606, "disease": "", "pathway": " (hsa:653082)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;28331227;33141586;37434393", "class_list": "", "function": "First, MYC downregulates miR-150 to unleash MYB from the miR-150-mediated repression. Second, MYC induces ZDHHC11 and ZDHHC11B that further ensures the maintenance of high MYB levels, [RefSeq, PubMed]; Probable palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates and be involved in a variety of cellular processes (By similarity). May play a role in cell proliferation (PubMed:28331227)., [UniProtKB, PubMed, UniProtKB]; ZDHHC11B is decreased in lung adenocarcinoma and inhibits tumorigenesis via regulating epithelial-mesenchymal transition., [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": "A6NHR3", "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:0019706 protein-cysteine S-palmitoyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0006612 protein targeting to membrane;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0C7U3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P31629-1", "uniprot_id": [ { "id": "ZEP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P31629", "type": "external" } ], "mass": 269053.0, "length": 2446, "protein_name": "Transcription factor HIVEP2", "gene_name": "HIVEP2", "organism": "Human", "refseq_name": "transcription factor HIVEP2", "refseq_ac": [ { "id": "NP_006725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006725", "type": "external" } ], "gene_names_uniprotkb": "HIVEP2", "gene_names_refseq": "HIV-EP2; HIVEP2; MBP-2; MIBP1; MRD43; SHN2; ZAS2; ZNF40B", "protein_names_uniprotkb": "Transcription factor HIVEP2; HIV-EP2; Human immunodeficiency virus type I enhancer-binding protein 2; MBP-2; MHC-binding protein 2", "protein_names_refseq": "MHC binding protein-2; Schnurri-2; c-myc intron binding protein 1; human immunodeficiency virus type I enhancer binding protein 2; transcription factor HIVEP2", "tax_id": 9606, "disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787); autosomal dominant intellectual developmental disorder 43 (Disease Ontology:DOID:0070073); intellectual disability (Disease Ontology:DOID:1059); Alzheimer's disease (Disease Ontology:DOID:10652); asthma (Disease Ontology:DOID:2841); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:3097)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "10207097;11120772;11237011;1409593;16362076;17081983;18491316;2022670;2247438;23020937;23186163;24715725;25576301;25880248;25892735;26153216;26992070;27452731;27655845;27869121;27920218;28228285;28657654;28832583;28834231;28904123;29242379;29351928;29393594;29493099;29508533;29632046;29632711;30379171;30429286;30620550;30833945;31092671;31154438;31207095;31492838;31530632;31586043;31844290;31848261;32157095;32357974;32387766;32502341;32680547;32897882;32938616;32938750;32983136;33214551;33298915;33592498;33912179;33936100;33968037;34019948;34846842;35051231;35132862;35254053;35289036;35318648;35494241;35513511;35580925;36010968;36215666;36241641;37340703;37541260;38665916;39302247;39531497;40136647;40307207", "class_list": "", "function": "HIVEP2-mediated transcriptional mechanisms are implicated in dopaminergic pathophysiology of substance use disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear factor kappa B activation appears weaker in schizophrenia patients with high brain cytokines than in non-schizophrenic controls with high brain cytokines. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of closely related, large, zinc finger-containing transcription factors. The encoded protein regulates transcription by binding to regulatory regions of various cellular and viral genes that maybe involved in growth, development and metastasis. The protein contains the ZAS domain comprised of two widely separated regions of zinc finger motifs, a stretch of highly acidic amino acids and a serine/threonine-rich sequence. [provided by RefSeq, Nov 2012]., [RefSeq]; This protein specifically binds to the DNA sequence 5'-GGGACTTTCC-3' which is found in the enhancer elements of numerous viral promoters such as those of SV40, CMV, or HIV1. In addition, related sequences are found in the enhancer elements of a number of cellular promoters, including those of the class I MHC, interleukin-2 receptor, somatostatin receptor II, and interferon-beta genes. It may act in T-cell activation., [UniProtKB]; We describe the phenotype and genotype of two additional patients with novel de novo pathogenic HIVEP2 variants, who have previously unreported features, including hyperphagia and Angelman-like features., [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": 52, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 52, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 52, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 107, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 6, "glyco_site_count": 53, "binding_glycan_count": 0, "secondary_ac_list": "Q02646;Q5THT5;Q9NS05", "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:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P31629-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52743-1", "uniprot_id": [ { "id": "ZN137_HUMAN", "url": "https://www.uniprot.org/uniprot/P52743", "type": "external" } ], "mass": 24115.0, "length": 207, "protein_name": "Putative zinc finger protein 137", "gene_name": "ZNF137P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ZNF137P; ZNF137", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative zinc finger protein 137; Zinc finger protein 137 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "7557990", "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": "Q2TBC7", "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": 0.2, "record_id": "P52743-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12836-1", "uniprot_id": [ { "id": "ZP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12836", "type": "external" } ], "mass": 59400.0, "length": 540, "protein_name": "Zona pellucida sperm-binding protein 4", "gene_name": "ZP4", "organism": "Human", "refseq_name": "zona pellucida sperm-binding protein 4 preproprotein", "refseq_ac": [ { "id": "NP_067009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067009", "type": "external" } ], "gene_names_uniprotkb": "ZP4; ZPB", "gene_names_refseq": "ZBP; ZP1B; ZP1; ZP4; ZPB2; ZPB; Zp-4", "protein_names_uniprotkb": "Zona pellucida sperm-binding protein 4; Zona pellucida glycoprotein 4; Zona pellucida protein B; Zp-4", "protein_names_refseq": "zona pellucida protein B; zona pellucida sperm-binding protein 4 preproprotein; zona pellucida sperm-binding protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:57829); (R-HSA-2534343)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10569978;20364096;27846572;29557506;29603480;30298508;32569527;33461974;34087483;35051231;7841460;8195297", "class_list": "", "function": "Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP4 may act as a sperm receptor., [UniProtKB]; Mutations in ZP4 are associated with abnormal zona pellucida and female infertility., [RefSeq, PubMed]; The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The nascent protein contains a N-terminal signal peptide sequence, a conserved ZP domain, a consensus furin cleavage site, and a C-terminal transmembrane domain. It is hypothesized that furin cleavage results in release of the mature protein from the plasma membrane for subsequent incorporation into the zona pellucida matrix. However, the requirement for furin cleavage in this process remains controversial based on mouse studies. Previously, this gene has been referred to as ZP1 or ZPB and thought to have similar functions as mouse Zp1. However, a human gene with higher similarity and chromosomal synteny to mouse Zp1 has been assigned the symbol ZP1 and this gene has been assigned the symbol ZP4. [provided by RefSeq, Jul 2008]., [RefSeq]; ZP4 gene SNPs rs547984, rs540782, rs693421, rs2499601 are not associated with open-angle glaucoma among ethnic Hans from Sichuan., [RefSeq, PubMed]; Zona Pellucida Proteins, Fibrils, and Matrix. Review article, [RefSeq, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 6, "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": 0, "reported_glycation": 0, "reported_snv": 51, "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": "B2RAE1", "ec_number_list": [], "go_molecular_function": "GO:0035804 structural constituent of egg coat;GO:0032190 acrosin binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0035805 egg coat", "go_biological_process": "GO:2000344 positive regulation of acrosome reaction;GO:0007339 binding of sperm to zona pellucida;GO:0042102 positive regulation of T cell proliferation;GO:0060468 prevention of polyspermy;GO:2000360 negative regulation of binding of sperm to zona pellucida", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q12836-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000111000.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14202-1", "uniprot_id": [ { "id": "ZMYM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14202", "type": "external" } ], "mass": 152379.0, "length": 1370, "protein_name": "Zinc finger MYM-type protein 3", "gene_name": "ZMYM3", "organism": "Human", "refseq_name": "zinc finger MYM-type protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001164633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164633", "type": "external" } ], "gene_names_uniprotkb": "ZMYM3; DXS6673E; KIAA0385; ZNF261", "gene_names_refseq": "DXS6673E; MYM; XFIM; XLID112; ZMYM3; ZNF198L2; ZNF261", "protein_names_uniprotkb": "Zinc finger MYM-type protein 3; Zinc finger protein 261", "protein_names_refseq": "zinc finger MYM-type protein 3 isoform 2; zinc finger MYM-type protein 3; zinc finger protein 261; zinc finger, MYM-type 3", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual disability (Disease Ontology:DOID:0050776); intellectual developmental disorder, X-linked 112 (MONDO:MONDO:0957496)", "pathway": " (hsa:9203)", "pathway_count": 1, "publication_count": 86, "publication_id_list": "11237011;12493763;15302935;17081983;18452278;18669648;19413330;19651622;19664995;20068231;20112406;21834987;22544926;22645359;23186163;23481700;24275569;24715725;24721225;25418920;25576301;25645385;25880248;25892735;26154972;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29769354;30315122;30379171;30484775;30779550;30909162;31154438;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33173136;33298915;33592498;33633747;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;35051231;35154160;35580925;36010968;36215666;36241641;36586412;37938771;40307207;40596516;8817323", "class_list": "", "function": "Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype., [RefSeq, PubMed]; Evolving evidence on a link between the ZMYM3 exceptionally long GA-STR and human cognition. Publication Status: Online-Only, [RefSeq, PubMed]; Required for regulation of cell morphology and cytoskeletal organization., [UniProtKB, PubMed]; The ZMYM3 'exceptionally long' 5' UTR STR findings may alter our perspective of disease pathogenesis in psychiatric disorders, and set an example in which the low frequency alleles at the extreme short and long ends of the human STRs are, at least in part, a result of natural selection against these alleles and their unambiguous link to major human disorders., [RefSeq, PubMed]; This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that function through modifying chromatin structure to keep genes silent. A chromosomal translocation (X;13) involving this gene is associated with X-linked cognitive disability. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "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": "D3DVV3;O15089;Q96E26", "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_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q14202-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q49AA0-1", "uniprot_id": [ { "id": "ZFP69_HUMAN", "url": "https://www.uniprot.org/uniprot/Q49AA0", "type": "external" } ], "mass": 61181.0, "length": 526, "protein_name": "Zinc finger protein 69 homolog", "gene_name": "ZFP69", "organism": "Human", "refseq_name": "zinc finger protein 69 homolog isoform 1", "refseq_ac": [ { "id": "NP_001307107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307107", "type": "external" } ], "gene_names_uniprotkb": "ZFP69; ZNF642", "gene_names_refseq": "ZFP69A; ZFP69; ZKSCAN23A; ZNF642; ZSCAN54A", "protein_names_uniprotkb": "Zinc finger protein 69 homolog; Zinc finger protein 642", "protein_names_refseq": "ZFP69 zinc finger protein A; zinc finger protein 642; zinc finger protein 69 homolog isoform 1; zinc finger protein 69 homolog; zinc finger protein ZFP69", "tax_id": 9606, "disease": "", "pathway": " (hsa:339559); (R-HSA-212436)", "pathway_count": 2, "publication_count": 25, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;19578398;2163759;25576301;26992070;28218747;29437277;30315122;30379171;30410026;31844290;32387766;34185709;34509645;8183939;8769649;9637681;9653119", "class_list": "", "function": "Putative transcription factor that appears to regulate lipid metabolism., [UniProtKB, UniProtKB]; Zfp69 is the most likely candidate for the diabetogenic effect of Nidd/SJL locus., [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": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q5SWM5;Q6ZWK8", "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:0031981 nuclear lumen;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006629 lipid metabolic process;GO:0019216 regulation of lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q49AA0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SVZ6-1", "uniprot_id": [ { "id": "ZMYM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SVZ6", "type": "external" } ], "mass": 128717.0, "length": 1142, "protein_name": "Zinc finger MYM-type protein 1", "gene_name": "ZMYM1", "organism": "Human", "refseq_name": "zinc finger MYM-type protein 1 isoform a", "refseq_ac": [ { "id": "NP_001276017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001276017", "type": "external" } ], "gene_names_uniprotkb": "ZMYM1", "gene_names_refseq": "MYM; ZMYM1", "protein_names_uniprotkb": "Zinc finger MYM-type protein 1", "protein_names_refseq": "zinc finger MYM-type protein 1 isoform a; zinc finger MYM-type protein 1; zinc finger, MYM domain containing 1; zinc finger, MYM-type 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79830)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "11237011;25576301;25645385;25755297;27600516;28218747;28228285;28832583;28834231;28904123;29242379;29557506;29786170;30429286;30484775;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33392160;33537174;33592498;33912179;33968037;33981976;34087483;34171305;34185709;35051231;35561310;35580925;36010968;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": 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": "D3DPR7;Q7Z3Q4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q5SVZ6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T1R4-1", "uniprot_id": [ { "id": "ZEP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T1R4", "type": "external" } ], "mass": 259465.0, "length": 2406, "protein_name": "Transcription factor HIVEP3", "gene_name": "HIVEP3", "organism": "Human", "refseq_name": "transcription factor HIVEP3 isoform b", "refseq_ac": [ { "id": "NP_001121186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121186", "type": "external" } ], "gene_names_uniprotkb": "HIVEP3; KBP1; KIAA1555; KRC; ZAS3", "gene_names_refseq": "HIVEP3; KBP-1; KBP1; KRC; SHN3; Schnurri-3; ZAS3; ZNF40C", "protein_names_uniprotkb": "Transcription factor HIVEP3; Human immunodeficiency virus type I enhancer-binding protein 3; KBP-1; Kappa-B and V(D)J recombination signal sequences-binding protein; Kappa-binding protein 1; Zinc finger protein ZAS3", "protein_names_refseq": "ZAS family, member 3; human immunodeficiency virus type I enhancer binding protein 3; kappa-B and V(D)J recombination signal sequences-binding protein; kappa-binding protein 1; transcription factor HIVEP3 isoform b; transcription factor HIVEP3; zinc finger protein ZAS3", "tax_id": 9606, "disease": "juvenile polyposis syndrome (Disease Ontology:DOID:0050787)", "pathway": " (hsa:59269); (R-HSA-8939902)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10215629;10572046;10911365;11161801;12000792;12738770;12923053;14707112;15703179;16115867;16421188;16728642;16959974;17786208;18452278;18541707;21931630;22422618;23403054;23481700;23943595;24715725;25260729;25645385;26091038;26778333;27072520;28657654;28904123;29242379;29351928;29557506;29769354;30315122;30429286;30779550;31217245;31492838;31844290;31998317;32157095;32357974;32387766;32488085;32502341;32938616;32938750;32983136;33298915;33912179;33968037;34087483;34171305;34341191;34750991;35051231;35254053;35535739;35580925;36010968;36241641;36571205;37340703;38665916;39302247;39531497;40136647", "class_list": "", "function": "HIVEP3 as a potential prognostic factor promotes the development of acute myeloid leukemia., [RefSeq, PubMed]; HIVEP3 cooperates with ferroptosis gene signatures to confer adverse prognosis in acute myeloid leukemia., [RefSeq, PubMed]; Overexpression of KRC in transformed and primary T cells leads to increased IL-2 production., [RefSeq, PubMed]; Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Also binds to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formation of multinucleated giant cells. Strongly inhibits TNF-induced NF-kappa-B activation; Interferes with nuclear factor NF-kappa-B by several mechanisms: as transcription factor, by competing for Kappa-B motif and by repressing transcription in the nucleus; through a non transcriptional process, by inhibiting nuclear translocation of RELA by association with TRAF2, an adapter molecule in the tumor necrosis factor signaling, which blocks the formation of IKK complex. Interaction with TRAF proteins inhibits both NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediated responses that include apoptosis and pro-inflammatory cytokine gene expression. Positively regulates the expression of IL2 in T-cell. Essential regulator of adult bone formation., [UniProtKB, PubMed]; Rheumatoid arthritis-fibroblast-like synoviocytes were more sensitive to the synergistic increase of Schnurri-3 expression., [RefSeq, PubMed]; The identification and structural analysis of potential 14-3-3 interaction sites on the bone regulator protein Schnurri-3., [RefSeq, PubMed]; This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]., [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": 0, "reported_o_glycosites_with_glycan": 29, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 29, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 29, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 84, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 34, "binding_glycan_count": 0, "secondary_ac_list": "A7YY91;Q5T1R5;Q9BZS0;Q9HCL7", "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:0005737 cytoplasm", "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", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q5T1R4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6WRX3-1", "uniprot_id": [ { "id": "ZY11A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6WRX3", "type": "external" } ], "mass": 85808.0, "length": 759, "protein_name": "Protein zyg-11 homolog A", "gene_name": "ZYG11A", "organism": "Human", "refseq_name": "protein zyg-11 homolog A isoform 1", "refseq_ac": [ { "id": "NP_001004339", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004339", "type": "external" } ], "gene_names_uniprotkb": "ZYG11A; ZYG11", "gene_names_refseq": "ZYG11A; ZYG11", "protein_names_uniprotkb": "Protein zyg-11 homolog A", "protein_names_refseq": "ZYG-11A early embryogenesis protein; protein zyg-11 homolog A isoform 1; protein zyg-11 homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:440590)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "23481700;24715725;26154972;26771237;26992070;27810909;28228285;28904123;29786170;30315122;30379171;30410026;31844290;32357974;32387766;32488085;32502341;33141586;33298915;33321115;33392160;33968037;34087483;34211107;34220714;34509645;35051231;36241641;37938771", "class_list": "", "function": "Autosomal dominant diabetes associated with a novel ZYG11A mutation resulting in cell cycle arrest in beta-cells., [RefSeq, PubMed]; Over-expression of ZYG11A is associated with non-small cell lung cancer., [RefSeq, PubMed]; Probably acts as a target recruitment subunit in an E3 ubiquitin ligase complex ZYGA-CUL2-elongin BC., [UniProtKB]; The ubiquitin ligase CRL2(ZYG-11) redundantly targets the degradation of cyclin B1 in Caenorhabditis elegans and human cells., [RefSeq, PubMed]; ZYG11A Is Expressed in Epithelial Ovarian Cancer and Correlates With Low Grade Disease. 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": 18, "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": "A6NCK5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q6WRX3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUH4-1", "uniprot_id": [ { "id": "ZDH13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUH4", "type": "external" } ], "mass": 70861.0, "length": 622, "protein_name": "Palmitoyltransferase ZDHHC13", "gene_name": "ZDHHC13", "organism": "Human", "refseq_name": "palmitoyltransferase ZDHHC13 isoform 2", "refseq_ac": [ { "id": "NP_001001483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001483", "type": "external" } ], "gene_names_uniprotkb": "ZDHHC13; HIP14L; HIP3RP", "gene_names_refseq": "HIP14L; HIP3RP; ZDHHC13", "protein_names_uniprotkb": "Palmitoyltransferase ZDHHC13; 2.3.1.225; DHHC-13; HIP14-related protein; Huntingtin-interacting protein 14-related protein; Huntingtin-interacting protein HIP3RP; Putative MAPK-activating protein PM03; Putative NF-kappa-B-activating protein 209; Zinc finger DHHC domain-containing protein 13", "protein_names_refseq": "DHHC-13; HIP14-related protein; huntingtin interacting protein HIP3RP; huntingtin-interacting protein 14-related protein; palmitoyltransferase ZDHHC13 isoform 2; probable palmitoyltransferase ZDHHC13; putative MAPK-activating protein PM03; putative NF-kappa-B-activating protein 209; zinc finger DHHC domain-containing protein 13; zinc finger DHHC-type containing 13; zinc finger DHHC-type palmitoyltransferase 13; zinc finger, DHHC domain containing 13", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:54503)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;12393793;12761501;18794299;24651384;25502872;25849918;26198635;26992070;28218747;28228285;28526873;29242379;29437277;29769354;30315122;31020640;31844290;32350084;33912179;34357683;35051231;35154160;35251023;35580925;36701140;37217939", "class_list": "", "function": "AMPK Phosphorylates ZDHHC13 to Increase MC1R Activity and Suppress Melanomagenesis., [RefSeq, PubMed]; Data show that deletion of huntingtin protein (HTT) amino acids 1-427 abolishes the interaction of HTT with palmitoyl acyltransferases huntingtin interacting protein 14 (HIP14) and huntingtin interacting protein 14-like (HIP14L). Publication Status: Online-Only, [RefSeq, PubMed]; Huntingtin interacting protein genes, HIP14 and HIP14L, encode Mg2+ transport proteins that are regulated by their innate palmitoyl acyltransferases thus fulfilling the characteristics of 'chanzymes.', [RefSeq, PubMed]; Palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates (By similarity). Palmitoyltransferase for HTT and GAD2. May play a role in Mg(2+) transport., [UniProtKB, UniProtKB]; This is the first study to demonstrate that defects in ZDHHC13, a PAT, leads to phenotypes in mice, including non-thyroidal hypermetabolism, mitochondrial dysfunction, and abnormal lipid metabolism. Publication Status: Online-Only, [RefSeq, PubMed]; This suggests that altered HIP14-HTT and HIP14L-HTT interactions in the presence of the HD mutation reduces palmitoylation and promotes mislocalization of HTT and other HIP14/HIP14L substrates 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": 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": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z2D3;Q86VK2;Q9NV30;Q9NV99", "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:0019706 protein-cysteine S-palmitoyltransferase activity;GO:0015095 magnesium ion transmembrane transporter activity;GO:0016409 palmitoyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0030660 Golgi-associated vesicle membrane", "go_biological_process": "GO:0043123 positive regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8IUH4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9F8-1", "uniprot_id": [ { "id": "ZN454_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9F8", "type": "external" } ], "mass": 60008.0, "length": 522, "protein_name": "Zinc finger protein 454", "gene_name": "ZNF454", "organism": "Human", "refseq_name": "zinc finger protein 454 isoform 1", "refseq_ac": [ { "id": "NP_001171560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171560", "type": "external" } ], "gene_names_uniprotkb": "ZNF454", "gene_names_refseq": "ZNF454", "protein_names_uniprotkb": "Zinc finger protein 454", "protein_names_refseq": "zinc finger protein 454 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:285676); (R-HSA-212436); (R-HSA-9843940)", "pathway_count": 3, "publication_count": 30, "publication_id_list": "10235266;10330177;11395415;11959841;12869583;14519192;14536086;15175151;15882967;15896744;16567619;16606702;16719718;16954381;18082607;2028256;2163759;25274305;26813693;28273063;30379171;31289231;31427381;32016477;35051231;8183939;8769649;9016654;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Methylationdriven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung squamous cell 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q2M1P2;Q2M323", "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:1990837 sequence-specific double-stranded 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", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8N9F8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JG9-1", "uniprot_id": [ { "id": "ZN469_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JG9", "type": "external" } ], "mass": 413295.0, "length": 3953, "protein_name": "Zinc finger protein 469", "gene_name": "ZNF469", "organism": "Human", "refseq_name": "zinc finger protein 469", "refseq_ac": [ { "id": "NP_001354553", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001354553", "type": "external" } ], "gene_names_uniprotkb": "ZNF469; KIAA1858", "gene_names_refseq": "BCS1; BCS; ZNF469; Zfp469", "protein_names_uniprotkb": "Zinc finger protein 469", "protein_names_refseq": "zinc finger protein 469", "tax_id": 9606, "disease": "brittle cornea syndrome 1 (Disease Ontology:DOID:14775)", "pathway": " (hsa:84627)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1038/emboj.2013.79;11237011;18452888;19661234;20485516;20719862;20938016;23584533;25645385;26758079;29393594;29605689;30379171;31154438;37098112;38267912;38704698", "class_list": "", "function": "30% homology to a number of collagens suggests that ZNF469 could act as a transcription factor involved in the synthesis and/or organization of collagen fibers., [RefSeq, PubMed]; Genetic variants in the FOXO1 and ZNF469 genes are associated with keratoconus in Sweden: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; New ZNF469 Mutations in Spanish Siblings With Brittle Cornea Syndrome., [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The results confirm that BCS (brittle cornea syndrome) is associated with mutations in ZNF469., [RefSeq, PubMed]; This gene encodes a zinc-finger protein. Low-percent homology to certain collagens suggests that it may function as a transcription factor or extra-nuclear regulator factor for the synthesis or organization of collagen fibers. Mutations in this gene cause brittle cornea syndrome. [provided by RefSeq, Jul 2008]., [RefSeq]; ZNF469 is a profibrotic regulator of extracellular matrix in hepatic stellate cells., [RefSeq, PubMed]; ZNF469 mutation may predispose to childhood blue sclera without BCS only in certain individuals, depending on other genetic and/or environmental conditions, [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 0, "predicted_o_glycosites": 8, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 75, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "H3BS19", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:1903053 regulation of extracellular matrix organization", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "Q96JG9-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JP5-1", "uniprot_id": [ { "id": "ZFP91_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JP5", "type": "external" } ], "mass": 63445.0, "length": 570, "protein_name": "E3 ubiquitin-protein ligase ZFP91", "gene_name": "ZFP91", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase ZFP91 isoform 2", "refseq_ac": [ { "id": "NP_001183980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001183980", "type": "external" } ], "gene_names_uniprotkb": "ZFP91; FKSG11; ZNF757", "gene_names_refseq": "DMS-8; DSM-8; DSM8; FKSG11; PZF; ZFP-91; ZFP91; ZNF757", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase ZFP91; 2.3.2.27; RING-type E3 ubiquitin transferase ZFP91; Zfp-91; Zinc finger protein 757; Zinc finger protein 91 homolog", "protein_names_refseq": "E3 ubiquitin-protein ligase ZFP91 isoform 2; E3 ubiquitin-protein ligase ZFP91; RING-type E3 ubiquitin transferase ZFP91; drug resistance-associated sequence in melanoma 8; penta zinc finger protein; zinc finger protein 757; zinc finger protein 91 homolog; zinc finger protein homologous to Zfp91 in mouse", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:80829)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "12738986;17081983;17322306;18669648;18691976;19651622;20068231;20682767;23301498;23481700;24715725;25576301;25810538;26154972;26375851;27846572;27862975;28228285;28832583;28834231;29242379;29493099;29508533;29557506;29632711;29786170;31154438;31373491;31844290;32157095;32502341;32938616;33141586;33298915;33392160;33633747;33912179;33936100;33968037;34211107;34403361;34561969;34936696;34942311;35051231;36375317;37938771;38665916;40608935", "class_list": "", "function": "Atypical E3 ligase ZFP91 promotes small-molecule-induced E2F2 transcription factor degradation for cancer therapy., [RefSeq, PubMed]; DNA-binding transcription factor (PubMed:34936696, PubMed:40608935). Also acts as an atypical E3 ubiquitin-protein ligase that mediates 'Lys-63'-linked ubiquitination of MAP3K14/NIK, leading to stabilize and activate MAP3K14/NIK (PubMed:20682767). It thereby acts as an activator of the non-canonical NF-kappa-B2/NFKB2 pathway (PubMed:20682767). May also play an important role in cell proliferation and/or anti-apoptosis (PubMed:12738986)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Likely to play an important role in cell proliferation and/or anti-apoptosis, and may serve as a molecular marker for AML, [RefSeq, PubMed]; Overcoming IMiD resistance in T-cell lymphomas through potent degradation of ZFP91 and IKZF1., [RefSeq, PubMed]; The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2-type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. This protein functions as a regulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta receptor signaling. Alternative splicing results in multiple transcript variants. A read-through transcript variant composed of ZFP91 and the downstream CNTF gene sequence has been identified, but it is thought to be non-coding. Read-through transcription of ZFP91 and CNTF has also been observed in mouse. A ZFP91-related pseudogene has also been identified on chromosome 2. [provided by RefSeq, Oct 2010]., [RefSeq]; ZFP91 disturbs metabolic fitness and antitumor activity of tumor-infiltrating T cells., [RefSeq, PubMed]; Zinc finger protein 91 mediates necroptosis by initiating RIPK1-RIPK3-MLKL signal transduction in response to TNF receptor 1 ligation., [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": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 13, "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": "A6NHC4;A8MSG7;Q86V47;Q96JP4;Q96QA3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "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:0070534 protein K63-linked ubiquitination;GO:0007250 activation of NF-kappaB-inducing kinase activity", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q96JP5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M85-1", "uniprot_id": [ { "id": "YV008_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M85", "type": "external" } ], "mass": 19601.0, "length": 177, "protein_name": "Putative uncharacterized protein FLJ32756", "gene_name": "", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein FLJ32756", "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": 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": 0.1, "record_id": "Q96M85-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MP5-1", "uniprot_id": [ { "id": "ZSWM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MP5", "type": "external" } ], "mass": 79454.0, "length": 696, "protein_name": "Zinc finger SWIM domain-containing protein 3", "gene_name": "ZSWIM3", "organism": "Human", "refseq_name": "zinc finger SWIM domain-containing protein 3", "refseq_ac": [ { "id": "NP_542790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542790", "type": "external" } ], "gene_names_uniprotkb": "ZSWIM3; C20orf164", "gene_names_refseq": "C20orf164; PPP1R174; ZSWIM3", "protein_names_uniprotkb": "Zinc finger SWIM domain-containing protein 3", "protein_names_refseq": "protein phosphatase 1, regulatory subunit 174; zinc finger SWIM domain-containing protein 3; zinc finger, SWIM domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:140831)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "24715725;25576301;25880248;26375851;26992070;27600516;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29632046;29769354;30315122;30379171;30429286;30524438;31844290;31848261;32157095;32357974;32387766;32938616;32983136;33298915;33592498;33717175;33912179;33968037;34405274;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": 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": "Q9BR13", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96MP5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR11-1", "uniprot_id": [ { "id": "ZSWM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR11", "type": "external" } ], "mass": 55071.0, "length": 485, "protein_name": "Zinc finger SWIM domain-containing protein 1", "gene_name": "ZSWIM1", "organism": "Human", "refseq_name": "zinc finger SWIM domain-containing protein 1", "refseq_ac": [ { "id": "NP_542170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_542170", "type": "external" } ], "gene_names_uniprotkb": "ZSWIM1; C20orf162", "gene_names_refseq": "C20orf162; ZSWIM1", "protein_names_uniprotkb": "Zinc finger SWIM domain-containing protein 1", "protein_names_refseq": "zinc finger SWIM domain-containing protein 1; zinc finger, SWIM domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:90204)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "23481700;24508175;24715725;25576301;25645385;26154972;26992070;27600516;27846572;27920218;28218747;28228285;29393594;29437277;29493099;29557506;30315122;30379171;30410026;30429286;30524438;30833945;31154438;31530632;31844290;31937595;31998317;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33968037;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35580925;36010968;36284347;36511424;38880921", "class_list": "", "function": "The activation sensitive nature of ZSWIM1 expression suggests that it may play a novel role in the development or function of T helper cells., [RefSeq, PubMed]; ZSWIM1 Promotes the Proliferation and Metastasis of Lung Adenocarcinoma Cells through the STK38/MEKK2/ERK1/2 Axis., [RefSeq, PubMed]; [TRIM21 Inhibits the Proliferation and Migration of Lung Adenocarcinoma Cells by Interacting with ZSWIM1]., [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": "Q5JZH2;Q9BR12;Q9BV30", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9BR11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWM5-1", "uniprot_id": [ { "id": "ZN416_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWM5", "type": "external" } ], "mass": 67188.0, "length": 594, "protein_name": "Zinc finger protein 416", "gene_name": "ZNF416", "organism": "Human", "refseq_name": "zinc finger protein 416 isoform 1", "refseq_ac": [ { "id": "NP_060349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060349", "type": "external" } ], "gene_names_uniprotkb": "ZNF416", "gene_names_refseq": "ZNF416", "protein_names_uniprotkb": "Zinc finger protein 416", "protein_names_refseq": "zinc finger protein 416 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55659); (R-HSA-212436)", "pathway_count": 2, "publication_count": 28, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;19413330;2163759;25880248;25892735;26992070;28904123;29493099;30429286;31217245;31844290;32157095;32350084;33625469;34171305;35051231;37938771;8183939;8769649;9637681;9653119", "class_list": "", "function": "Acts as a mechanosensitive transcriptional activator in fibroblasts, regulating the expression of genes involved in proliferation, extracellular matrix synthesis, and contractility in response to increased matrix stiffness., [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": 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": "Q9NWW8", "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:0001216 DNA-binding transcription activator activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0048144 fibroblast proliferation;GO:0072537 fibroblast activation", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9BWM5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX82-1", "uniprot_id": [ { "id": "ZN471_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX82", "type": "external" } ], "mass": 73009.0, "length": 626, "protein_name": "Zinc finger protein 471", "gene_name": "ZNF471", "organism": "Human", "refseq_name": "zinc finger protein 471 isoform 2", "refseq_ac": [ { "id": "NP_001308697", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308697", "type": "external" } ], "gene_names_uniprotkb": "ZNF471; ERP1; KIAA1396", "gene_names_refseq": "ERP1; Z1971; ZNF471; Zfp78", "protein_names_uniprotkb": "Zinc finger protein 471; EZFIT-related protein 1", "protein_names_refseq": "EZFIT-related protein 1; zinc finger protein 471 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57573); (R-HSA-212436)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16959974;2163759;28218747;28255813;29242379;29610526;30379171;30429286;31222486;32157095;32938616;33203470;38169650;38749608;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Suppression of N-Glycosylation of Zinc Finger Protein 471 Affects Proliferation, Invasion, and Docetaxel Sensitivity of Tongue Squamous Cell Carcinoma via Regulation of c-Myc., [RefSeq, PubMed]; The tumor suppressor Zinc finger protein 471 suppresses breast cancer growth and metastasis through inhibiting AKT and Wnt/beta-catenin signaling. Erratum:[Clin Epigenetics. 2022 Jan 31;14(1):17. doi: 10.1186/s13148-022-01237-3. PMID: 35101095] Publication Status: Online-Only, [RefSeq, PubMed]; This is the first study to report hypermethylation of LRPPRC, RAB6C, and ZNF471 in squamous cell carcinoma of the tongue, [RefSeq, PubMed]; ZNF471 Interacts with BANP to Reduce Tumour Malignancy by Inactivating PI3K/AKT/mTOR Signalling but is Frequently Silenced by Aberrant Promoter Methylation in Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; ZNF471 acts as a tumor suppressor in gastric cancer by transcriptionally inhibiting downstream targets TFAP2A and PLS3. Erratum:[Oncogene. 2022 Jun;41(23):3298-3299. doi: 10.1038/s41388-022-02216-x. PMID: 35484334], [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": "B4DF32;O75260;Q08AD6;Q08AD7;Q8N3V1;Q9P2F1", "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: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": 3.0, "record_id": "Q9BX82-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0A1-1", "uniprot_id": [ { "id": "ZFHX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0A1", "type": "external" } ], "mass": 274176.0, "length": 2572, "protein_name": "Zinc finger homeobox protein 2", "gene_name": "ZFHX2", "organism": "Human", "refseq_name": "zinc finger homeobox protein 2", "refseq_ac": [ { "id": "NP_207646", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_207646", "type": "external" } ], "gene_names_uniprotkb": "ZFHX2; KIAA1056; KIAA1762; ZNF409", "gene_names_refseq": "MARSIS; ZFH-5; ZFH5; ZFHX2; ZNF409", "protein_names_uniprotkb": "Zinc finger homeobox protein 2; ZFH-2; Zinc finger homeodomain protein 2", "protein_names_refseq": "ZFH-2; zinc finger homeobox protein 2; zinc finger homeodomain protein 2; zinc finger protein 409", "tax_id": 9606, "disease": "spinocerebellar ataxia 4 (Disease Ontology:DOID:0050957); Marsili syndrome (Disease Ontology:DOID:0081075); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:85446)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;23481700;24715725;25576301;25645385;28832583;29253101;29557506;29786170;30192525;30379171;30429286;31844290;32387766;32502341;34932366;35051231;35494241;36010968;36241641;37217939;39894887", "class_list": "", "function": "This study demonstrate that a A novel human pain insensitivity disorder caused by a point mutation in ZFHX2., [RefSeq, PubMed]; Transcriptional regulator that is critical for the regulation of pain perception and processing of noxious stimuli., [UniProtKB, PubMed]", "predicted_glycosites": 13, "predicted_n_glycosites": 0, "predicted_o_glycosites": 13, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "Q9UPU6", "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:0046872 metal ion 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:0051930 regulation of sensory perception of pain;GO:0045664 regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9C0A1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C0G0-1", "uniprot_id": [ { "id": "ZN407_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C0G0", "type": "external" } ], "mass": 247367.0, "length": 2248, "protein_name": "Zinc finger protein 407", "gene_name": "ZNF407", "organism": "Human", "refseq_name": "zinc finger protein 407 isoform 2", "refseq_ac": [ { "id": "NP_001139661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139661", "type": "external" } ], "gene_names_uniprotkb": "ZNF407; KIAA1703", "gene_names_refseq": "SIMHA; ZNF407", "protein_names_uniprotkb": "Zinc finger protein 407", "protein_names_refseq": "zinc finger protein 407 isoform 2", "tax_id": 9606, "disease": "short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies (MONDO:MONDO:0859198)", "pathway": " (hsa:55628)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11237011;18452278;19690890;19913121;20112406;20166139;20628086;23186163;23195952;23481700;24275569;24715725;24907849;25418920;25645385;26154972;26375851;26811146;26929215;26992070;27846572;27920218;28063628;28218747;28228285;28300833;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;30315122;30379171;30429286;30524438;31154438;31844290;32157095;32161166;32265295;32387766;32488085;32502341;32737394;32897882;32938616;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34509645;35051231;35494241;35580925;36010968;36241641;37217939;39302247", "class_list": "", "function": "Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism., [RefSeq, PubMed]; Data indicate that mutations in the ZNF407 gene contribute to the pathogenesis of a group of intellectual disability (ID) patients with autism., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; 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, PubMed]; This gene encodes a zinc finger protein whose exact function is not known. It may be involved in transcriptional regulation. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]; WDR5 shows a direct binding to the ZNF407 promoter. 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 58, "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": "B5MD54;Q96MY0;Q9H8A1;Q9NXD4;Q9NXD7", "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:0003677 DNA 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": 6.8, "record_id": "Q9C0G0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4T2-1", "uniprot_id": [ { "id": "ZSC16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4T2", "type": "external" } ], "mass": 40792.0, "length": 348, "protein_name": "Zinc finger and SCAN domain-containing protein 16", "gene_name": "ZSCAN16", "organism": "Human", "refseq_name": "zinc finger and SCAN domain-containing protein 16 isoform a", "refseq_ac": [ { "id": "NP_001307484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307484", "type": "external" } ], "gene_names_uniprotkb": "ZSCAN16; ZNF392; ZNF435", "gene_names_refseq": "ZNF392; ZNF435; ZSCAN16; dJ265C24.3", "protein_names_uniprotkb": "Zinc finger and SCAN domain-containing protein 16; Zinc finger protein 392; Zinc finger protein 435", "protein_names_refseq": "zinc finger and SCAN domain-containing protein 16 isoform a; zinc finger and SCAN domain-containing protein 16; zinc finger protein 392; zinc finger protein 435", "tax_id": 9606, "disease": "", "pathway": " (hsa:80345)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "16959974;17646705;22544926;23481700;26375851;29493099;29557506;29632711;30315122;30429286;31844290;31937595;32157095;32172065;32938616;33298915;33968037", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; ZNF435 proved to be a transcription repressor as its overexpression in AD293 cells inhibited the transcriptional activities of AP-1., [RefSeq, PubMed]; ZSCAN16 promotes proliferation, migration and invasion of bladder cancer via regulating NF-kB, AKT, mTOR, P38 and other genes. Erratum:[Biomed Pharmacother. 2020 Oct;130:110858. doi: 10.1016/j.biopha.2020.110858. PMID: 33054976], [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": "Q9H6K2", "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:1990837 sequence-specific double-stranded 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", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9H4T2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P217-1", "uniprot_id": [ { "id": "ZSWM5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P217", "type": "external" } ], "mass": 130634.0, "length": 1185, "protein_name": "Zinc finger SWIM domain-containing protein 5", "gene_name": "ZSWIM5", "organism": "Human", "refseq_name": "zinc finger SWIM domain-containing protein 5", "refseq_ac": [ { "id": "NP_065934", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065934", "type": "external" } ], "gene_names_uniprotkb": "ZSWIM5; KIAA1511", "gene_names_refseq": "ZSWIM5", "protein_names_uniprotkb": "Zinc finger SWIM domain-containing protein 5", "protein_names_refseq": "zinc finger SWIM domain-containing protein 5; zinc finger, SWIM domain containing 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:57643)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "25418920;25576301;25892735;26154972;27397612;28514659;28904123;29393594;29557506;29769354;30315122;30429286;31154438;31530632;31844290;32157095;32265295;32502341;32938616;32983136;33298915;33537174;33592498;33912179;33968037;34087483;34171305;35051231;35580925;36010968;38253038", "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": 17, "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": "Q5SXQ9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9P217-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P255-1", "uniprot_id": [ { "id": "ZN492_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P255", "type": "external" } ], "mass": 61158.0, "length": 531, "protein_name": "Zinc finger protein 492", "gene_name": "ZNF492", "organism": "Human", "refseq_name": "zinc finger protein 492", "refseq_ac": [ { "id": "NP_065906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065906", "type": "external" } ], "gene_names_uniprotkb": "ZNF492; KIAA1473; ZNF115", "gene_names_refseq": "ZNF115; ZNF492", "protein_names_uniprotkb": "Zinc finger protein 492; Zinc finger protein 115", "protein_names_refseq": "zinc finger protein 115 (Y20); zinc finger protein 492", "tax_id": 9606, "disease": "", "pathway": " (hsa:57615); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16714237;16719718;17081983;2163759;25576301;26992070;29393594;31115548;32157095;8183939;8769649;9637681;9653119", "class_list": "", "function": "Data revealed that hypermethylation of ZNF492 and GPR149 was significantly associated with shorter timetoprogression of patients with clear cell renal cell carcinoma (ccRCC). Hypermethylation of ZNF492 and GPR149 may be independent predictors of tumor progression. Similarly, the methylation status of these two genes was significantly associated with poor outcomes in the independent external validation cohort., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; This KRAB-zinc finger protein serves as a moderate transcriptional factor for Rpe65 gene upregulation., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q08EI7;Q08EI8", "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_biological_process": "GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9P255-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UDW3-1", "uniprot_id": [ { "id": "ZMAT5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UDW3", "type": "external" } ], "mass": 19971.0, "length": 170, "protein_name": "Zinc finger matrin-type protein 5", "gene_name": "ZMAT5", "organism": "Human", "refseq_name": "zinc finger matrin-type protein 5", "refseq_ac": [ { "id": "NP_001003692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003692", "type": "external" } ], "gene_names_uniprotkb": "ZMAT5", "gene_names_refseq": "SNRNP20; U11/U12-20K; ZC3H19; ZMAT5", "protein_names_uniprotkb": "Zinc finger matrin-type protein 5; U11/U12 small nuclear ribonucleoprotein 20 kDa protein; U11/U12 snRNP 20 kDa protein; U11/U12-20K", "protein_names_refseq": "U11/U12 small nuclear ribonucleoprotein 20 kDa protein; U11/U12 snRNP 20 kDa protein; U11/U12 snRNP 20K; zinc finger CCCH-type containing 19; zinc finger matrin-type protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:55954); (R-HSA-72165)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "10207048;11333026;11607023;15146077;17940139;19052544;2524422;27510544;28218747;29437277;29557506;30315122;31844290;31848261;32157095;34561969;35580925;36284347;8835860", "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": "A8K9F6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005689 U12-type spliceosomal complex", "go_biological_process": "GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome;GO:0000388 spliceosome conformational change to release U4 (or U4atac) and U1 (or U11)", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9UDW3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL58-1", "uniprot_id": [ { "id": "ZN215_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL58", "type": "external" } ], "mass": 60034.0, "length": 517, "protein_name": "Zinc finger protein 215", "gene_name": "ZNF215", "organism": "Human", "refseq_name": "zinc finger protein 215 isoform 1", "refseq_ac": [ { "id": "NP_037382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037382", "type": "external" } ], "gene_names_uniprotkb": "ZNF215; BAZ2; ZKSCAN11", "gene_names_refseq": "BAZ-2; BAZ2; ZKSCAN11; ZNF215; ZSCAN43", "protein_names_uniprotkb": "Zinc finger protein 215; BAZ-2; BWSCR2-associated zinc finger protein 2; Zinc finger protein with KRAB and SCAN domains 11", "protein_names_refseq": "BWSCR2-associated zinc finger protein 2; zinc finger protein 215 isoform 1; zinc finger protein with KRAB and SCAN domains 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:7762); (R-HSA-212436)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10235266;10330177;10762538;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24715725;25880248;26992070;27920218;28218747;28228285;28832583;29242379;29437277;29508533;30315122;31844290;32157095;32357974;32502341;32938616;33298915;33981976;34091126;34932366;35051231;36284347;37198696;8183939;8769649;9637681;9653119", "class_list": "", "function": "CircZNF215 promotes tumor growth and metastasis through inactivation of the PTEN/AKT pathway in intrahepatic cholangiocarcinoma. Erratum:[J Exp Clin Cancer Res. 2024 Feb 23;43(1):55. doi: 10.1186/s13046-024-02977-1. PMID: 38395941] Publication Status: Online-Only, [RefSeq, PubMed]; Loss of ZNF215 imprinting is associated with poor five-year survival in patients with cytogenetically abnormal-acute myeloid leukemia., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; This gene is imprinted in a tissue-specific manner with preferential expression in the testis, and encodes a zinc finger protein that belongs to a family of zinc finger transcription factors. The encoded protein contains an N-terminal SRE-ZBP, Ctfin51, AW-1, and Number 18 (SCAN) domain, a kruppel-associated box A (KRABA) domain, and four C-terminal zinc finger domains. This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q96C84", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion 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_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": 3.9, "record_id": "Q9UL58-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0U1RR11-1", "uniprot_id": [ { "id": "CENL1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0U1RR11", "type": "external" } ], "mass": 29887.0, "length": 272, "protein_name": "Centromere protein V-like protein 1", "gene_name": "CENPVL1", "organism": "Human", "refseq_name": "centromere protein V-like protein 1", "refseq_ac": [ { "id": "NP_001342206", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342206", "type": "external" } ], "gene_names_uniprotkb": "CENPVL1; CENPVP1", "gene_names_refseq": "CENPVL1; CENPVP1; PRR6L1", "protein_names_uniprotkb": "Centromere protein V-like protein 1; Centromere protein V pseudogene 1", "protein_names_refseq": "centromere protein V-like protein 1; proline rich 6-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:389857)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "34171305;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": 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": "Q3ZM64", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0016846 carbon-sulfur lyase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A0A0U1RR11-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NA42-1", "uniprot_id": [ { "id": "ZN383_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NA42", "type": "external" } ], "mass": 54613.0, "length": 475, "protein_name": "Zinc finger protein 383", "gene_name": "ZNF383", "organism": "Human", "refseq_name": "zinc finger protein 383", "refseq_ac": [ { "id": "NP_001332876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001332876", "type": "external" } ], "gene_names_uniprotkb": "ZNF383; HSD17", "gene_names_refseq": "HSD17; ZNF383; Zfp383", "protein_names_uniprotkb": "Zinc finger protein 383", "protein_names_refseq": "zinc finger protein 383", "tax_id": 9606, "disease": "", "pathway": " (hsa:163087); (R-HSA-212436)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;15964543;16606702;16719718;2163759;25576301;25645385;27846572;27862975;28063628;28228285;29393594;29632046;30315122;30379171;31154438;31217245;31844290;32157095;32265295;32357974;32938616;33592498;33912179;35051231;35835334;36010968;37938771;8183939;8769649;9637681;9653119", "class_list": "", "function": "19q13.12 KRAB zinc-finger protein ZNF383 represses p53 signaling pathway by interacting with p53., [RefSeq, PubMed]; May function as a transcriptional repressor, suppressing transcriptional activities mediated by MAPK signaling pathways., [UniProtKB, PubMed]; Overexpression of ZNF383 in cells inhibits the transcriptional activities of AP-1 and SRE, suggesting that ZNF383 may act as a negative regulator in MAPK-mediated signaling pathways., [RefSeq, PubMed]; The protein encoded by this gene is a KRAB-related zinc finger protein that inhibits the transcription of some MAPK signaling pathway genes. The repressor activity resides in the KRAB domain of the encoded protein. [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": 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": "Q6X2C7", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0031965 nuclear membrane", "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": 4.1, "record_id": "Q8NA42-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7Q3-1", "uniprot_id": [ { "id": "ZN676_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7Q3", "type": "external" } ], "mass": 67624.0, "length": 588, "protein_name": "Zinc finger protein 676", "gene_name": "ZNF676", "organism": "Human", "refseq_name": "zinc finger protein 676", "refseq_ac": [ { "id": "NP_001001411", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001411", "type": "external" } ], "gene_names_uniprotkb": "ZNF676", "gene_names_refseq": "ZNF676", "protein_names_uniprotkb": "Zinc finger protein 676", "protein_names_refseq": "zinc finger protein 676", "tax_id": 9606, "disease": "", "pathway": " (hsa:163223); (R-HSA-212436)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;23001564;29202958;30379171;31217245;35051231;38838015;8183939;8769649;9637681;9653119", "class_list": "", "function": "Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans., [RefSeq, PubMed]; May be involved in transcriptional regulation., [UniProtKB]; Transcriptome wide association study results identified two novel genes as statistically significantly associated with nonobstructive azoospermia susceptibility: PILRA and ZNF676., [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": 47, "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": "A8MVX5", "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:0001227 DNA-binding transcription repressor 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": 2.4, "record_id": "Q8N7Q3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75362-1", "uniprot_id": [ { "id": "ZN217_HUMAN", "url": "https://www.uniprot.org/uniprot/O75362", "type": "external" } ], "mass": 115272.0, "length": 1048, "protein_name": "Zinc finger protein 217", "gene_name": "ZNF217", "organism": "Human", "refseq_name": "zinc finger protein 217 isoform 2", "refseq_ac": [ { "id": "NP_006517", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006517", "type": "external" } ], "gene_names_uniprotkb": "ZNF217; ZABC1", "gene_names_refseq": "ZABC1; ZNF217", "protein_names_uniprotkb": "Zinc finger protein 217", "protein_names_refseq": "zinc finger protein 217 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7764); (R-HSA-9018519); (R-HSA-9764725)", "pathway_count": 3, "publication_count": 229, "publication_id_list": "10500157;10655587;10828826;10873660;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11682626;11912130;12493763;12498683;12612073;12700765;12959972;14631847;14675539;15001666;15276198;15282324;15302935;15343269;15345050;15514030;15542832;15986123;16009131;16046058;16087863;16113099;16203743;1630819;16940172;16959974;16980581;17013392;17130829;17259635;17277772;17463000;17495528;17510434;17637753;17666587;17690249;18187655;18219272;18256232;18322535;18358809;18452278;18476782;18533032;18625718;18669648;18762174;18805503;19001364;19020303;19098913;19274700;19295514;19321454;19383337;19664994;19664995;19718048;20068231;20219941;20220130;20418909;20498280;20570965;20682797;20871592;21106759;21151129;21406692;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22158034;22265404;22492511;22545144;22704330;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23466526;23481700;23723241;23906331;24167369;24366607;24371278;24714562;24715725;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25728767;25728771;26056233;26153859;26154972;26204489;26212009;26462610;26479350;26811146;26992070;27062924;27600516;27846572;27862975;27886276;27920218;28063628;28228285;28539435;28832583;28904123;29093164;2919170;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29729076;29786170;30315122;30379171;30429286;3045126;30524438;30779550;30898548;31217245;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32574038;3281094;32897882;32938616;32983136;33141586;33298915;33592498;33608512;33633747;33717175;33912179;33936100;33968037;33981976;34087483;34211107;34509645;34561969;3498214;35008676;35051231;35121826;35138000;35292107;35318648;35362545;35580925;35851744;36010968;36241641;36356557;3677090;37080415;37217939;37648814;38253038;39531497;40307207;7559524;7935485;7937828;8195246;8197458;8419924;8876171;9201922;9338790;9388265;9611253;9671459;9671742;9731700", "class_list": "", "function": "Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at 'Ser-473'., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; FTO-stabilized miR-139-5p targets ZNF217 to suppress prostate cancer cell malignancies by inactivating the PI3K/Akt/mTOR signal pathway., [RefSeq, PubMed]; Frequent ZNF217 mutations lead to transcriptional deregulation of interferon signal transduction via altered chromatin accessibility in B cell lymphoma., [RefSeq, PubMed]; Hsa_circ_0069094 positively regulates the expression of oncogenic ZNF217 by competitively targeting miR-758-3p to promote the development of breast cancer., [RefSeq, PubMed]; Interferon regulatory factor 5induced upregulation of zincfinger protein 217 promotes pancreatic carcinoma progression., [RefSeq, PubMed]; MicroRNA-135 inhibits initiation of epithelial-mesenchymal transition in breast cancer by targeting ZNF217 and promoting m6A modification of NANOG., [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": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "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": "E1P5Y6;Q14DB8", "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:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0000118 histone deacetylase complex", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 23.7, "record_id": "O75362-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2G6-1", "uniprot_id": [ { "id": "ZCH24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2G6", "type": "external" } ], "mass": 26955.0, "length": 241, "protein_name": "Zinc finger CCHC domain-containing protein 24", "gene_name": "ZCCHC24", "organism": "Human", "refseq_name": "zinc finger CCHC domain-containing protein 24", "refseq_ac": [ { "id": "NP_699198", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699198", "type": "external" } ], "gene_names_uniprotkb": "ZCCHC24; C10orf56", "gene_names_refseq": "C10orf56; Z3CXXC8; ZCCHC24", "protein_names_uniprotkb": "Zinc finger CCHC domain-containing protein 24", "protein_names_refseq": "zinc finger CCHC domain-containing protein 24; zinc finger, 3CxxC-type 8; zinc finger, CCHC domain containing 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:219654)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11237011;16385451;17081983;18669648;19690332;25645385;29393594;29557506;30429286;31154438;31844290;31848261;32157095;32161166;32938616;33912179;33968037;35580925;36010968;36284347;38665916", "class_list": "", "function": "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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5U5T9;Q8TAG0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8N2G6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T5D7-1", "uniprot_id": [ { "id": "ZN684_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T5D7", "type": "external" } ], "mass": 43945.0, "length": 378, "protein_name": "Zinc finger protein 684", "gene_name": "ZNF684", "organism": "Human", "refseq_name": "zinc finger protein 684", "refseq_ac": [ { "id": "NP_689586", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689586", "type": "external" } ], "gene_names_uniprotkb": "ZNF684", "gene_names_refseq": "ZNF684", "protein_names_uniprotkb": "Zinc finger protein 684", "protein_names_refseq": "hypothetical protein MGC27466; zinc finger protein 684", "tax_id": 9606, "disease": "", "pathway": " (hsa:127396); (R-HSA-212436)", "pathway_count": 2, "publication_count": 26, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;29557506;29786170;30379171;30833945;31217245;31844290;32357974;32897882;32983136;33392160;34185709;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": 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": "Q2NKY4", "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:1990837 sequence-specific double-stranded 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:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q5T5D7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULM3-1", "uniprot_id": [ { "id": "YETS2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULM3", "type": "external" } ], "mass": 150782.0, "length": 1422, "protein_name": "YEATS domain-containing protein 2", "gene_name": "YEATS2", "organism": "Human", "refseq_name": "YEATS domain-containing protein 2 isoform 3", "refseq_ac": [ { "id": "NP_060493", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060493", "type": "external" } ], "gene_names_uniprotkb": "YEATS2; KIAA1197", "gene_names_refseq": "FAME4; YEATS2", "protein_names_uniprotkb": "YEATS domain-containing protein 2", "protein_names_refseq": "YEATS domain-containing protein 2 isoform 3; YEATS domain-containing protein 2", "tax_id": 9606, "disease": "familial adult myoclonic epilepsy 4 (Disease Ontology:DOID:0111693)", "pathway": " (hsa:55689); (R-HSA-3214847); (R-HSA-9772755)", "pathway_count": 3, "publication_count": 200, "publication_id_list": "10786633;10821277;11237011;12393701;12482972;12670868;14636557;14992727;15104674;15199122;15302935;15313887;16227571;16239140;16387653;16829959;16878130;16892064;17355966;17500065;17525332;17612494;17671196;17925232;17998332;18077418;18381289;18452278;18598942;18623064;18669648;18691976;18829457;18829459;18838386;18838538;19103755;19124460;19187761;19187765;19413330;19556245;19651622;19664994;19664995;19690332;19691289;20018852;20068231;20112406;20305658;20575550;20716525;20961854;21106533;21124902;21131905;21135039;21220120;21406692;21740066;22266653;22327296;22652693;22665483;22713812;23186163;23301498;23481700;23508102;23995757;24244196;24275569;24368734;24680668;24714562;25114211;25418920;25561738;25576301;25593305;25772364;26324722;26375851;26728094;26758079;26811146;26886794;26992070;27103431;27563068;27600516;27698142;27760318;27846572;27862975;27920218;28063628;28182322;28218747;28228285;28398509;28657654;28832583;28834231;28860189;28904123;29138278;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29897600;29937342;30059200;30315122;30379171;30410026;30429286;30524438;30620550;31217245;31400120;31485071;31492838;31539032;31544921;31637018;31844290;32119511;32157095;32265295;32357974;32387766;32488085;32502341;32574038;32749678;32897882;32938616;32938750;32983136;33214551;33298915;33537174;33592498;33657400;33691108;33717175;33912179;33936100;33968037;33981976;34012049;34019948;34087483;34405274;34509645;34561969;34587874;34686948;34846842;34932366;34933446;35033534;35051231;35132862;35138101;35190547;35254053;35289036;35439434;35513511;35561310;35580925;36010968;36241641;36284347;37541260;37938771;38619971;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40541806;40596516;9427644;9558366;9880483", "class_list": "", "function": "Chromatin reader component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 (PubMed:18838386, PubMed:19103755, PubMed:27103431). YEATS2 specifically recognizes and binds histone H3 crotonylated at 'Lys-27' (H3K27cr) (PubMed:27103431). Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:27103431)., [UniProtKB, PubMed, PubMed, PubMed]; Our findings suggest that benign adult familial myoclonic epilepsy type 4 is caused by the insertions of the intronic TTTCA repeats in YEATS2, [RefSeq, PubMed]; Repression of YEATS2 induces cellular senescence in hepatocellular carcinoma and inhibits tumor growth., [RefSeq, PubMed]; The protein encoded by this gene is a scaffolding subunit of the ATAC complex, which is a complex with acetyltransferase activity on histones H3 and H4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]., [RefSeq]; YEATS domain-containing 2 (YEATS2), targeted by microRNA miR-378a-5p, regulates growth and metastasis in head and neck squamous cell carcinoma., [RefSeq, PubMed]; YEATS2 is a target of HIF1alpha and promotes pancreatic cancer cell proliferation and migration., [RefSeq, PubMed]; YEATS2 regulates the activation of TAK1/NF-kappaB pathway and is critical for pancreatic ductal adenocarcinoma cell survival., [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": 40, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 40, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 40, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 33, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 42, "binding_glycan_count": 0, "secondary_ac_list": "A7E2B9;D3DNS9;Q641P6;Q9NW96", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0042393 histone binding;GO:0140030 modification-dependent protein binding;GO:0017025 TBP-class protein binding;GO:0140566 histone reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035267 NuA4 histone acetyltransferase complex;GO:0072686 mitotic spindle;GO:0140672 ATAC complex", "go_biological_process": "GO:0090043 regulation of tubulin deacetylation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006338 chromatin remodeling;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 24.3, "record_id": "Q9ULM3-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y548-1", "uniprot_id": [ { "id": "YIPF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y548", "type": "external" } ], "mass": 34277.0, "length": 306, "protein_name": "Protein YIPF1", "gene_name": "YIPF1", "organism": "Human", "refseq_name": "protein YIPF1", "refseq_ac": [ { "id": "NP_061855", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061855", "type": "external" } ], "gene_names_uniprotkb": "YIPF1", "gene_names_refseq": "DJ167A19.1; FinGER1; YIPF1; YIPFbeta3A; Yip5a", "protein_names_uniprotkb": "Protein YIPF1; YIP1 family member 1", "protein_names_refseq": "YIP1 family member 1; protein YIPF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54432)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "24715725;25892735;26992070;27999994;28218747;28228285;28286305;28832583;28904123;29242379;29437277;29769354;30410026;30779550;31844290;32157095;32161166;32387766;32938616;33298915;33392160;33912179;33968037;34357683;34509645;35051231;35580925", "class_list": "", "function": "Knockdown of YIPF1 and YIPF2, but not that of YIPF6, also reduced intracellular glycans in HT-29 cells. Thus, we confirmed that YIPF1, YIPF2, and YIPF6 play a significant role in supporting normal glycan synthesis, [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": 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": "B2RCM7;D3DQ40;Q9NWJ1", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0031902 late endosome membrane;GO:0030133 transport vesicle;GO:0005797 Golgi medial cisterna;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q9Y548-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N988-1", "uniprot_id": [ { "id": "ZN557_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N988", "type": "external" } ], "mass": 48627.0, "length": 423, "protein_name": "Zinc finger protein 557", "gene_name": "ZNF557", "organism": "Human", "refseq_name": "zinc finger protein 557 isoform a", "refseq_ac": [ { "id": "NP_001037852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001037852", "type": "external" } ], "gene_names_uniprotkb": "ZNF557", "gene_names_refseq": "ZNF557", "protein_names_uniprotkb": "Zinc finger protein 557", "protein_names_refseq": "CTB-25J19.9; zinc finger protein 557 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:79230); (R-HSA-212436)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10235266;10330177;11395415;14519192;15175151;15896744;16606702;16719718;2163759;24715725;25645385;26375851;26992070;27846572;28218747;28228285;28649982;28832583;28904123;29242379;29437277;29632046;30315122;30429286;30484775;30833945;31217245;31844290;31848261;32157095;32357974;32387766;32897882;33298915;33936100;34171305;34561969;35051231;35580925;36215666;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": 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": "Q6PEJ3;Q9BTZ1", "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": 4.5, "record_id": "Q8N988-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVQ3-1", "uniprot_id": [ { "id": "CC200_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVQ3", "type": "external" } ], "mass": 19413.0, "length": 168, "protein_name": "Coiled-coil domain-containing protein 200", "gene_name": "CCDC200", "organism": "Human", "refseq_name": "coiled-coil domain-containing protein 200", "refseq_ac": [ { "id": "NP_001350183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001350183", "type": "external" } ], "gene_names_uniprotkb": "CCDC200", "gene_names_refseq": "CCDC200; LINC00854; TMEM106A-AS1", "protein_names_uniprotkb": "Coiled-coil domain-containing protein 200", "protein_names_refseq": "TMEM106A antisense RNA 1 (non-protein coding); TMEM106A antisense RNA 1 (tail to tail); coiled-coil domain-containing protein 200; long intergenic non-protein coding RNA 854", "tax_id": 9606, "disease": "", "pathway": " (hsa:100874261)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": "A0A1B0GVQ3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A5B0-1", "uniprot_id": [ { "id": "TVB14_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A5B0", "type": "external" } ], "mass": 12880.0, "length": 115, "protein_name": "T cell receptor beta variable 14", "gene_name": "TRBV14", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV14; TCRBV14S1; TCRBV16S1A1N1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 14", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "15040585;20452950;23524462;24600447;25493333;8650574", "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": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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: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": 0.7, "record_id": "A0A5B0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6S0-1", "uniprot_id": [ { "id": "TRGJ1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6S0", "type": "external" } ], "mass": 1791.0, "length": 16, "protein_name": "T cell receptor gamma joining 1", "gene_name": "TRGJ1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRGJ1; TCRGJ1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor gamma joining 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "23348415;24387714;24600447;25674089;28920588", "class_list": "", "function": "J region of the variable domain of T cell receptor (TR) gamma chain that participates in the antigen recognition (PubMed:24600447). 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:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A075B6S0-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VVH2-1", "uniprot_id": [ { "id": "FKB1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VVH2", "type": "external" } ], "mass": 12179.0, "length": 108, "protein_name": "Peptidyl-prolyl cis-trans isomerase FKBP1C", "gene_name": "FKBP1C", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase FKBP1C", "refseq_ac": [ { "id": "NP_001382909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382909", "type": "external" } ], "gene_names_uniprotkb": "FKBP1C", "gene_names_refseq": "FKBP1C", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase FKBP1C; 5.2.1.8", "protein_names_refseq": "FK506 binding protein 1C; FKBP prolyl isomerase 1C; peptidyl-prolyl cis-trans isomerase FKBP1C", "tax_id": 9606, "disease": "Barth syndrome (Disease Ontology:DOID:0050476); Parkinsonism (Disease Ontology:DOID:0080855)", "pathway": " (hsa:642489)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "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:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0033017 sarcoplasmic reticulum membrane", "go_biological_process": "GO:0006457 protein folding;GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5VVH2-1", "record_type": "protein", "filter_code": "0000000.1000011.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0J9YXY3-1", "uniprot_id": [ { "id": "TVB62_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0J9YXY3", "type": "external" } ], "mass": 12525.0, "length": 114, "protein_name": "T cell receptor beta variable 6-2", "gene_name": "TRBV6-2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRBV6-2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor beta variable 6-2", "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. 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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. 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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. 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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. 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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., [UniProtKB, UniProtKB]; Histones are basic nuclear proteins responsible for 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 a member of the H3 family, but is found outside of the histone cluster. There is evidence that it is transcribed and has an intact CDS, but residue changes in the protein suggest that it may be on its way to becoming a psuedogene. 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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. 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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. 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Catalyzes the hydrolysis of internal (1->4)-alpha-D-glucosidic bonds, yielding a mixture of maltose, isomaltose, small amounts of glucose as well as small linear and branched oligosaccharides called dextrins (PubMed:12527308)., [UniProtKB, 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": 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": 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": "A6NJS5;A8K8H6;P04745;Q13763;Q5T083", "ec_number_list": [ { "id": "3.2.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.1", "type": "external" } ], "go_molecular_function": "GO:0031404 chloride ion binding;GO:0005509 calcium ion binding;GO:0004556 alpha-amylase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0009311 oligosaccharide metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "P0DTE7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B6W6-1", "uniprot_id": [ { "id": "A0A075B6W6_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B6W6", "type": "external" } ], "mass": 2020.0, "length": 20, "protein_name": "T cell receptor alpha joining 27", "gene_name": "TRAJ27", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAJ27", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha joining 27", "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": "A0A075B6W6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A0B4J238-1", "uniprot_id": [ { "id": "TVA12_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A0B4J238", "type": "external" } ], "mass": 11863.0, "length": 106, "protein_name": "T cell receptor alpha variable 1-2", "gene_name": "TRAV1-2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRAV1-2", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor alpha variable 1-2", "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": 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:0009617 response to bacterium;GO:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A0A0B4J238-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1W2PQJ5-1", "uniprot_id": [ { "id": "S72L3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1W2PQJ5", "type": "external" } ], "mass": 22413.0, "length": 194, "protein_name": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 3", "gene_name": "SSU72L3", "organism": "Human", "refseq_name": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 3", "refseq_ac": [ { "id": "NP_001400929", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001400929", "type": "external" } ], "gene_names_uniprotkb": "SSU72L3", "gene_names_refseq": "SSU72L3; SSU72P3", "protein_names_uniprotkb": "RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 3; 3.1.3.16; CTD phosphatase SSU72L3; RNA polymerase II subunit A C-terminal domain phosphatase SSU72L3", "protein_names_refseq": "CTD phosphatase SSU72L3; RNA polymerase II subunit A C-terminal domain phosphatase SSU72 like protein 3; RNA polymerase II subunit A C-terminal domain phosphatase SSU72L3; SSU72 RNA polymerase II CTD phosphatase homolog pseudogene 3; SSU72 pseudogene 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:143506)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination., [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, 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"total_reported_s_glycosites": 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": "A0A1W2PRE2-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "D6RIA3-1", "uniprot_id": [ { "id": "CD054_HUMAN", "url": "https://www.uniprot.org/uniprot/D6RIA3", "type": "external" } ], "mass": 190074.0, "length": 1793, "protein_name": "Uncharacterized protein C4orf54", "gene_name": "C4orf54", "organism": "Human", "refseq_name": "uncharacterized protein C4orf54", "refseq_ac": [ { "id": "NP_001341364", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001341364", "type": "external" } ], "gene_names_uniprotkb": "C4orf54; FOPV", "gene_names_refseq": "C4orf54; FOPV", "protein_names_uniprotkb": "Uncharacterized protein C4orf54; Familial obliterative portal venopathy", "protein_names_refseq": "familial obliterative portal venopathy; uncharacterized protein C4orf54", "tax_id": 9606, "disease": "", "pathway": " (hsa:285556)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "28792652;31844290;35051231", "class_list": "", "function": "", "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "D6RIA3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A3B3IRQ3-1", "uniprot_id": [ { "id": "A0A3B3IRQ3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A3B3IRQ3", "type": "external" } ], "mass": 12814.0, "length": 129, "protein_name": "Uncharacterized protein", "gene_name": "LOC112267897", "organism": "Human", "refseq_name": "keratin-associated protein 21-1-like", "refseq_ac": [ { "id": "NP_001382849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382849", "type": "external" } ], "gene_names_uniprotkb": "LOC112267897", "gene_names_refseq": "LOC112267897", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "keratin-associated protein 21-1-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:112267897)", "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": "GO:0001942 hair follicle development", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A3B3IRQ3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A3B3IS91-1", "uniprot_id": [ { "id": "PLGRF_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A3B3IS91", "type": "external" } ], "mass": 25527.0, "length": 260, "protein_name": "POLG alternative reading frame", "gene_name": "POLGARF", "organism": "Human", "refseq_name": "POLG alternative reading frame", "refseq_ac": [ { "id": "NP_001417049", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001417049", "type": "external" } ], "gene_names_uniprotkb": "POLGARF", "gene_names_refseq": "ORF-Y; POLGARF", "protein_names_uniprotkb": "POLG alternative reading frame; ORF-Y; POLGARF", "protein_names_refseq": "POLG alternative reading frame", "tax_id": 9606, "disease": "", "pathway": " (hsa:125316803)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "32138667;32958672", "class_list": "", "function": "This gene uses the same transcript as the POLG gene but has a CUG start codon and an alternate reading frame that makes a 260 aa protein. This protein is distinct from POLG isoforms and may interact with P32 (also known as C1QBP), a mitochondrial matrix protein thought to be involved in the expression of mitochondrial genome-encoded proteins. POLGARF protein may bind P32 and sequester it in the nucleolus. Interestingly, some disease-causing mutations thought to be in POLG may instead be associated with POLGARF. [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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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:0005615 extracellular space;GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A3B3IS91-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A3B3IT33-1", "uniprot_id": [ { "id": "TR51G_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A3B3IT33", "type": "external" } ], "mass": 53047.0, "length": 452, "protein_name": "Tripartite motif-containing protein 51G", "gene_name": "TRIM51G", "organism": "Human", "refseq_name": "tripartite motif-containing protein 51G", "refseq_ac": [ { "id": "NP_001383004", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001383004", "type": "external" } ], "gene_names_uniprotkb": "TRIM51G; TRIM51GP", "gene_names_refseq": "TRIM51GP; TRIM51G", "protein_names_uniprotkb": "Tripartite motif-containing protein 51G", "protein_names_refseq": "putative tripartite motif-containing protein 51G; tripartite motif-containing 51G, pseudogene; tripartite motif-containing protein 51G", "tax_id": 9606, "disease": "", "pathway": " (hsa:120824)", "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:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A3B3IT33-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A3B3IT45-1", "uniprot_id": [ { "id": "O51C1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A3B3IT45", "type": "external" } ], "mass": 34826.0, "length": 312, "protein_name": "Olfactory receptor OR51C1", "gene_name": "OR51C1", "organism": "Human", "refseq_name": "olfactory receptor OR51C1", "refseq_ac": [ { "id": "NP_001382980", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382980", "type": "external" } ], "gene_names_uniprotkb": "OR51C1; OR51C1P; OR51C3P; OST734", "gene_names_refseq": "OR51C1P; OR51C1; OR51C2P; OR51C3P; OST734", "protein_names_uniprotkb": "Olfactory receptor OR51C1", "protein_names_refseq": "olfactory receptor OR51C1; olfactory receptor family 51 subfamily C member 1 pseudogene; olfactory receptor, family 51, subfamily C, member 2 pseudogene; olfactory receptor, family 51, subfamily C, member 3 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:401661)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [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": "Q8NH68", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A3B3IT45-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A3B3IU46-1", "uniprot_id": [ { "id": "RMACL_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A3B3IU46", "type": "external" } ], "mass": 14367.0, "length": 118, "protein_name": "RNA guanine-N7 methyltransferase-activating subunit-like protein", "gene_name": "RAMACL", "organism": "Human", "refseq_name": "RNA guanine-N7 methyltransferase-activating subunit-like protein", "refseq_ac": [ { "id": "NP_001382928", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382928", "type": "external" } ], "gene_names_uniprotkb": "RAMACL", "gene_names_refseq": "C6orf119; FAM103A2P; RAMACL; RAMMETL; RAMMETP1; dJ427A4.2", "protein_names_uniprotkb": "RNA guanine-N7 methyltransferase-activating subunit-like protein", "protein_names_refseq": "RNA guanine-7 methyltransferase activating subunit like (pseudogene); RNA guanine-N7 methyltransferase-activating subunit-like protein; RNMT activating mRNA cap methyltransferase subunit like (pseudogene); RNMT activating mRNA cap methyltransferase subunit pseudogene 1; family with sequence similarity 103 member A2, pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:353267)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "30429286;31844290", "class_list": "", "function": "Component of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs., [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:0003723 RNA binding;GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0031533 mRNA capping enzyme complex", "go_biological_process": "GO:0006370 7-methylguanosine mRNA capping;GO:0106005 RNA 5'-cap (guanine-N7)-methylation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A3B3IU46-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DPP9-1", "uniprot_id": [ { "id": "ETDB_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DPP9", "type": "external" } ], "mass": 6991.0, "length": 59, "protein_name": "Embryonic testis differentiation protein homolog B", "gene_name": "ETDB", "organism": "Human", "refseq_name": "embryonic testis differentiation protein homolog B", "refseq_ac": [ { "id": "NP_001342448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342448", "type": "external" } ], "gene_names_uniprotkb": "ETDB", "gene_names_refseq": "ETDB; LINC00633", "protein_names_uniprotkb": "Embryonic testis differentiation protein homolog B", "protein_names_refseq": "Embryonic testis differentiation protein homolog B-like; embryonic testis differentiation protein homolog B; long intergenic non-protein coding RNA 633", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129515)", "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": "P0DPP9-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DPR3-1", "uniprot_id": [ { "id": "TRDD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DPR3", "type": "external" } ], "mass": 260.0, "length": 2, "protein_name": "T cell receptor delta diversity 1", "gene_name": "TRDD1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TRDD1", "gene_names_refseq": "", "protein_names_uniprotkb": "T cell receptor delta diversity 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "23348415;24387714;24600447;25674089;28920588", "class_list": "", "function": "D region of the variable domain of T cell receptor (TR) delta chain that participates in the antigen recognition (PubMed:24600447). 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:0002250 adaptive immune response", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0DPR3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DTE5-1", "uniprot_id": [ { "id": "UD2A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DTE5", "type": "external" } ], "mass": 60772.0, "length": 536, "protein_name": "UDP-glucuronosyltransferase 2A2", "gene_name": "UGT2A2", "organism": "Human", "refseq_name": "UDP-glucuronosyltransferase 2A2 isoform UGT2A2_i1 precursor", "refseq_ac": [ { "id": "NP_001099147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099147", "type": "external" } ], "gene_names_uniprotkb": "UGT2A2", "gene_names_refseq": "UDPGT 2A2; UGT2A2", "protein_names_uniprotkb": "UDP-glucuronosyltransferase 2A2; 2.4.1.17; UDPGT 2A2", "protein_names_refseq": "UDP glucuronosyltransferase 2 family, polypeptide A2; UDP-glucuronosyltransferase 2A2 isoform UGT2A2_i1 precursor; UDP-glucuronosyltransferase 2A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:574537); (R-HSA-156588); (R-HSA-9749641)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "10220572;10434065;11581266;12433823;12616642;1339448;13741103;14570768;15135306;16258079;16837570;16858120;16943252;17482904;1783992;18052085;18719240;19545173;19836360;19858781;22294686;22674043;23288867;23756265;25840124;27556486;28677105;29557506;3082969;3342084;35039640;3705620;4639028;5013373;5773090;5862532;6654901;6777177;6796486;6838677;7206363;7802672;8027054;8687483;9144407;931988;975718", "class_list": "glycogene;glycosyltransferase", "function": "Results show that UGT2A2 not only shares exons 2-6 with UGT2A1, it also shares with it a similar tissue expression pattern; both UGTs are primarily expressed in nasal epithelium. The 3rd member of UGT2A subfamily, UGT2A3 exhibited a different tissue expression pattern, found mainly in liver and small intestine., [RefSeq, PubMed]; The UGT2A1/UGT2A2 locus is associated with COVID-19-related loss of smell or taste., [RefSeq, PubMed]; The protein encoded by this gene belongs to the UDP-glycosyltransferase family. Members of this protein family play a role in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. The encoded enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. This gene shares exon structure with the UDP glucuronosyltransferase 2A1 family member, which encodes N-terminally distinct isoforms. Polymorphisms in this gene may be associated with the loss of taste and smell that is reported by some individuals during SARS-CoV-2 infection. [provided by RefSeq, Jan 2022]., [RefSeq]; UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either the urine or bile (PubMed:18719240, PubMed:19858781, PubMed:23288867, PubMed:23756265). Essential for the elimination and detoxification of drugs, xenobiotics and endogenous compounds (PubMed:19858781, PubMed:23756265). Catalyzes the glucuronidation of endogenous estrogen hormone estradiol (PubMed:18719240, PubMed:23288867). Contributes to bile acid (BA) detoxification by catalyzing the glucuronidation of BA substrates, which are natural detergents for dietary lipids absorption (PubMed:23756265). Shows a potential role in detoxification of toxic waste compounds in the amniotic fluid before birth, and air-born chemical after birth (PubMed:19858781)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]", "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": 768, "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": "B4E2F4;D3GER1;D3GER2;E9PDM7;J3KNA3;Q9Y4X1", "ec_number_list": [ { "id": "2.4.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.17", "type": "external" }, { "id": "2.4.1.170", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.170", "type": "external" }, { "id": "2.4.1.185", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.185", "type": "external" } ], "go_molecular_function": "GO:0015020 glucuronosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006805 xenobiotic metabolic process;GO:0008206 bile acid metabolic process;GO:0009608 response to symbiont", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "P0DTE5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DUD2-1", "uniprot_id": [ { "id": "SPD17_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DUD2", "type": "external" } ], "mass": 31441.0, "length": 265, "protein_name": "Speedy protein E17", "gene_name": "SPDYE17", "organism": "Human", "refseq_name": "speedy protein E17", "refseq_ac": [ { "id": "NP_001338280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001338280", "type": "external" } ], "gene_names_uniprotkb": "SPDYE17", "gene_names_refseq": "SPDYE17", "protein_names_uniprotkb": "Speedy protein E17", "protein_names_refseq": "putative speedy protein E17; speedy protein E17", "tax_id": 9606, "disease": "", "pathway": " (hsa:102723849)", "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:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0DUD2-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A6I8PU40-1", "uniprot_id": [ { "id": "TUG1_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A6I8PU40", "type": "external" } ], "mass": 16006.0, "length": 153, "protein_name": "Taurine up-regulated 1 protein", "gene_name": "TUG1", "organism": "Human", "refseq_name": "taurine up-regulated 1", "refseq_ac": [ { "id": "NP_001383447", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001383447", "type": "external" } ], "gene_names_uniprotkb": "TUG1", "gene_names_refseq": "LINC00080; NCRNA00080; TI-227H; TUG1", "protein_names_uniprotkb": "Taurine up-regulated 1 protein", "protein_names_refseq": "taurine up-regulated 1; taurine upregulated gene 1", "tax_id": 9606, "disease": "Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:55000)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "15797018;22078878;31155234;32894169;33051429;39121689;39198825;39206905", "class_list": "", "function": "Androgen receptor deficiency-induced TUG1 in suppressing ferroptosis to promote benign prostatic hyperplasia through the miR-188-3p/GPX4 signal pathway., [RefSeq, PubMed]; Figure 4G shows that this RNA actually encodes a small protein localized to mitochondria., [RefSeq, PubMed]; LncRNA TUG1 transcript levels and psychological disorders: insights into interplay of glycemic index and glycemic load. Publication Status: Online-Only, [RefSeq, PubMed]; METTL14-Mediated m6A Modification of TUG1 Represses Ferroptosis in Alzheimer's Disease via Inhibiting GDF15 Ubiquitination., [RefSeq, PubMed]; Pc2, methylation controls the protein's interaction with two distinct ncRNAs, TUG1 and NEAT2, which results in the exclusive subnuclear localization of methylated and unmethylated Pc2 in Polycomb bodies and interchromatin granules, respectively. Erratum:[Cell. 2013 Oct 10;155(2):478], [RefSeq, PubMed]; Taurine up-regulated gene 1 and disease development.', trans '1., [RefSeq, PubMed]; Taurine upregulated gene 1 (TUG1) is necessary for the proper formation of photoreceptors in the developing rodent retina, [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": "", "ec_number_list": [], "go_molecular_function": "GO:0000987 cis-regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0031965 nuclear membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A0A6I8PU40-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A024RCN7-1", "uniprot_id": [ { "id": "A0A024RCN7_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A024RCN7", "type": "external" } ], "mass": 8344.0, "length": 75, "protein_name": "Small nucleolar RNA host gene 32", "gene_name": "SNHG32", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SNHG32", "gene_names_refseq": "", "protein_names_uniprotkb": "Small nucleolar RNA host gene 32", "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, 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"A0A669KAW2_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A669KAW2", "type": "external" } ], "mass": 5199.0, "length": 42, "protein_name": "Uncharacterized protein", "gene_name": "LOC128092253", "organism": "Human", "refseq_name": "umcharacterized LOC128092253", "refseq_ac": [ { "id": "NP_001401894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001401894", "type": "external" } ], "gene_names_uniprotkb": "LOC128092253", "gene_names_refseq": "LOC128092253", "protein_names_uniprotkb": "Uncharacterized protein", "protein_names_refseq": "umcharacterized LOC128092253", "tax_id": 9606, "disease": "", "pathway": " (hsa:128092253)", "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, 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"length": 446, "protein_name": "C-type lectin domain family 18 member A", "gene_name": "CLEC18A", "organism": "Human", "refseq_name": "C-type lectin domain family 18 member A precursor", "refseq_ac": [ { "id": "NP_001129686", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129686", "type": "external" } ], "gene_names_uniprotkb": "CLEC18A; MRLP2", "gene_names_refseq": "CLEC18A; MRCL1; MRCL; MRLP2", "protein_names_uniprotkb": "C-type lectin domain family 18 member A; Mannose receptor-like protein 2", "protein_names_refseq": "C-type lectin domain family 18 member A precursor; mannose receptor-like 1; mannose receptor-like protein 2; mannose receptor-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:348174)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;26170455;26375851;30055605;30459171;30470801;32387766;33603190;35051231;35717171", "class_list": "glycogene", "function": "Binds polysaccharides in a Ca(2+)-independent manner with a preferentially binding to fucoidan, beta-glucans and galactans (PubMed:26170455)., [UniProtKB, PubMed]; Endosomal TLR3 co-receptor CLEC18A enhances host immune response to viral infection. Publication Status: Online-Only, [RefSeq, PubMed]; High CLEC18 serum levels were associated with chronic HCV infection in rheumatic diseases. Publication Status: Online-Only, [RefSeq, PubMed]; Human rs75776403 polymorphism links differential phenotypic and clinical outcomes to a CLEC18A p.T151M-driven multiomics. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma CLEC18 levels were correlated with the stage of HBV infection and could predict HBeAg loss and seroconversion in the patients with chronic hepatitis B (CHB) undergoing NUC therapy Publication Status: Online-Only, [RefSeq, PubMed]; The human C-type lectin 18 (clec18) gene cluster, which contains three clec18a, clec18b, and clec18c loci, is located in human chromosome 16q22., [RefSeq, PubMed]; This is one of three closely related paralogous genes on chromosome 16 encoding secreted proteins containing C-type lectin domains. These domains bind to carbohydrates in the presence of calcium, and may be involved in cell adhesion, immune response and apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. 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neuroma (Disease Ontology:DOID:12689); leiomyoma (Disease Ontology:DOID:127); low tension glaucoma (Disease Ontology:DOID:13544); exfoliation syndrome (Disease Ontology:DOID:13641); primary pulmonary hypertension (Disease Ontology:DOID:14557); hypothyroidism (Disease Ontology:DOID:1459); limited scleroderma (Disease Ontology:DOID:1577); diffuse scleroderma (Disease Ontology:DOID:1580); breast cancer (Disease Ontology:DOID:1612); melanoma (Disease Ontology:DOID:1909); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); multiple sclerosis (Disease Ontology:DOID:2377); transitional cell carcinoma (Disease Ontology:DOID:2671); invasive ductal carcinoma (Disease Ontology:DOID:3008); high grade glioma (Disease Ontology:DOID:3070); breast carcinoma (Disease Ontology:DOID:3459); ovarian carcinoma (Disease Ontology:DOID:4001); systemic scleroderma (Disease Ontology:DOID:418); renal cell carcinoma (Disease Ontology:DOID:4450); pulmonary hypertension (Disease Ontology:DOID:6432); osteoarthritis (Disease Ontology:DOID:8398); psoriasis (Disease Ontology:DOID:8893); obesity (Disease Ontology:DOID:9970); partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (MONDO:MONDO:0011714)", "pathway": " (hsa:857); (R-HSA-163560); (R-HSA-203615); (R-HSA-203641); (R-HSA-209968); (R-HSA-210991); (R-HSA-4641262); (R-HSA-5218920); (R-HSA-8980692); (R-HSA-9009391); (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); (R-HSA-9617828); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273); (R-HSA-9735871); (R-HSA-9755779)", "pathway_count": 28, "publication_count": 798, "publication_id_list": 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"class_list": "", "function": "CAV1 as a new Berardinelli-Seip congenital lipodystrophy (BSCL)-related gene and support a critical role for caveolins in human adipocyte function., [RefSeq, PubMed]; Cellular prion protein acts as mediator of amyloid beta uptake by caveolin-1 causing cellular dysfunctions in vitro and in vivo., [RefSeq, PubMed]; Dynamic remodeling of TRPC5 channel-caveolin-1-eNOS protein assembly potentiates the positive feedback interaction between Ca[2+] and NO signals., [RefSeq, PubMed]; Exploring the conformational dynamics and key amino acids in the CD26-caveolin-1 interaction and potential therapeutic interventions., [RefSeq, PubMed]; May act as a scaffolding protein within caveolar membranes (PubMed:11751885). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564). Interacts directly with G protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (PubMed:17287217). Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (By similarity). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (PubMed:25893292). Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; May act as a scaffolding protein within caveolar membranes. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway. Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation. Binds 20(S)-hydroxycholesterol (20(S)-OHC)., [UniProtKB, UniProtKB, UniProtKB]; May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity., [UniProtKB, UniProtKB, UniProtKB]; The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[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": 14, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 36, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9UGP1;Q9UNG1;Q9UQH6", "ec_number_list": [], "go_molecular_function": "GO:0070320 inward rectifier potassium channel inhibitor activity;GO:0060090 molecular adaptor activity;GO:0008142 oxysterol binding;GO:0005102 signaling receptor binding;GO:0016504 peptidase activator activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005811 lipid droplet", "go_biological_process": "GO:0032507 maintenance of protein location in cell;GO:0044860 protein localization to plasma membrane raft;GO:0048550 negative regulation of pinocytosis;GO:0072584 caveolin-mediated endocytosis;GO:1900027 regulation of ruffle assembly", "synthesized_glycan_count": 0, "hit_score": 80.1, "record_id": "Q03135-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GC9-1", "uniprot_id": [ { "id": "VMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GC9", "type": "external" } ], "mass": 46238.0, "length": 406, "protein_name": "Vacuole membrane protein 1", "gene_name": "VMP1", "organism": "Human", "refseq_name": "vacuole membrane protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001316323", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316323", "type": "external" } ], "gene_names_uniprotkb": "VMP1; HSPC292; TDC1; TMEM49", "gene_names_refseq": "EPG3; TANGO5; TMEM49; VMP1", "protein_names_uniprotkb": "Vacuole membrane protein 1; Transmembrane protein 49", "protein_names_refseq": "ectopic P-granules autophagy protein 3 homolog; transmembrane protein 49; transport and golgi organization 5 homolog; vacuole membrane protein 1 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81671)", "pathway_count": 1, "publication_count": 87, "publication_id_list": "10.1101/2023.09.13.557529;11230166;11237011;17724469;17940279;19056683;22424782;22544926;23481700;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26929215;26992070;27600516;27846572;28228285;28510447;28832583;28834231;28890335;28904123;29242379;29393594;29493099;29557506;29769354;29786170;30093494;30429286;30779550;30833945;30933966;31154438;31217245;31222486;31526472;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33338421;33392160;33592498;33717175;33850023;33912179;33929485;33936100;33968037;33981976;34087483;34211107;34509645;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37629161;37938771;38009649;38403678;38411635;38612567", "class_list": "", "function": "(Microbial infection) Host factor required for infection by all flaviviruses tested such as Zika virus and Yellow fever virus (PubMed:33338421). Probably required post-entry of the virus to facilitate the ER membrane remodeling necessary to form replication organelles (PubMed:33338421)., [UniProtKB, PubMed]; Altered vacuole membrane protein 1 (VMP1) expression is associated with increased NLRP3 inflammasome activation and mitochondrial dysfunction., [RefSeq, PubMed]; CircVMP1 promotes glycolysis and disease progression by upregulating HKDC1 in colorectal cancer., [RefSeq, PubMed]; Decoding the Versatile Landscape of Autophagic Protein VMP1 in Cancer: A Comprehensive Review across Tissue Types and Regulatory Mechanisms. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Endogenously expressed Vmp1 is essentially a cell membrane protein that is involved in cell-cell adhesion, invasion and metastasis., [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]; Phospholipid scramblase involved in lipid homeostasis and membrane dynamics processes (PubMed:33850023, PubMed:33929485). Has phospholipid scramblase activity toward cholesterol and phosphatidylserine, as well as phosphatidylethanolamine and phosphatidylcholine (PubMed:33850023, PubMed:33929485). Required for autophagosome formation: participates in early stages of autophagosome biogenesis at the endoplasmic reticulum (ER) membrane by reequilibrating the leaflets of the ER as lipids are extracted by ATG2 (ATG2A or ATG2B) to mediate autophagosome assembly (PubMed:28890335, PubMed:30093494, PubMed:30933966, PubMed:33850023, PubMed:33929485). Regulates ATP2A2 activity to control ER-isolation membrane contacts for autophagosome formation (PubMed:28890335). In addition to autophagy, involved in other processes in which phospholipid scramblase activity is required (PubMed:31526472, PubMed:33850023). Modulates ER contacts with lipid droplets, mitochondria and endosomes (PubMed:28890335). Plays an essential role in formation of cell junctions (PubMed:17724469). Upon stress such as bacterial and viral infection, promotes formation of cytoplasmic vacuoles followed by cell death (By similarity). Involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]., [RefSeq]; Ubiquitination Is a Novel Post-Translational Modification of VMP1 in Autophagy of Human Tumor Cells. Publication Status: Online-Only, [RefSeq, PubMed]; VMP1 as a novel autophagy-related membrane protein involved in the initial steps of the mammalian cell autophagic process., [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": 2, "reported_glycation": 0, "reported_snv": 8, "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": "B4DVV9;Q9H0P4;Q9P089", "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:0000421 autophagosome membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0034329 cell junction assembly;GO:0042953 lipoprotein transport;GO:0098609 cell-cell adhesion;GO:0006914 autophagy", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "Q96GC9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20155-1", "uniprot_id": [ { "id": "ISK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P20155", "type": "external" } ], "mass": 9291.0, "length": 84, "protein_name": "Serine protease inhibitor Kazal-type 2", "gene_name": "SPINK2", "organism": "Human", "refseq_name": "serine protease inhibitor Kazal-type 2 isoform 6 precursor", "refseq_ac": [ { "id": "NP_001258651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258651", "type": "external" } ], "gene_names_uniprotkb": "SPINK2", "gene_names_refseq": "HUSI-II; SPGF29; SPINK2", "protein_names_uniprotkb": "Serine protease inhibitor Kazal-type 2; Acrosin-trypsin inhibitor; Epididymis tissue protein Li 172; HUSI-II", "protein_names_refseq": "epididymis tissue protein Li 172; serine peptidase inhibitor, Kazal type 2 (acrosin-trypsin inhibitor); serine protease inhibitor Kazal-type 2 isoform 6 precursor; serine protease inhibitor Kazal-type 2", "tax_id": 9606, "disease": "spermatogenic failure 29 (Disease Ontology:DOID:0111930)", "pathway": " (hsa:6691)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;11237011;1704312;19422058;20736409;2226783;28554943;30524438;31886233;37298647;8428671", "class_list": "", "function": "As a strong inhibitor of acrosin, it is required for normal spermiogenesis. It probably hinders premature activation of proacrosin and other proteases, thus preventing the cascade of events leading to spermiogenesis defects (PubMed:28554943). May be involved in the regulation of serine protease-dependent germ cell apoptosis (By similarity). It also inhibits trypsin., [UniProtKB, PubMed, PubMed, UniProtKB]; Investigated whether tazarotene-induced gene 1 protein (TIG1) affects the activity of urokinase plasminogen-type activator, which is negatively regulated by serine peptidase inhibitor Kazal type 2 (SPINK2), potentially preventing epithelial mesenchymal transition and suppressing cell migration and invasion. Publication Status: Online-Only, [RefSeq, PubMed]; SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response. Publication Status: Online-Only, [RefSeq, PubMed]; These results demonstrate that SPINK2 is necessary to neutralize proteases during their cellular transit toward the acrosome and that its deficiency induces a pathological continuum ranging from oligoasthenoteratozoospermia in heterozygotes to azoospermia in homozygotes., [RefSeq, PubMed]; This gene encodes a member of the family of serine protease inhibitors of the Kazal type (SPINK). The encoded protein acts as a trypsin and acrosin inhibitor in the genital tract and is localized in the spermatozoa. The protein has been associated with the progression of lymphomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 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": 4, "reported_glycation": 0, "reported_snv": 2, "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": "Q6FGH2", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0007286 spermatid development;GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "P20155-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75525-1", "uniprot_id": [ { "id": "KHDR3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75525", "type": "external" } ], "mass": 38800.0, "length": 346, "protein_name": "KH domain-containing, RNA-binding, signal transduction-associated protein 3", "gene_name": "KHDRBS3", "organism": "Human", "refseq_name": "KH domain-containing, RNA-binding, signal transduction-associated protein 3", "refseq_ac": [ { "id": "NP_006549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006549", "type": "external" } ], "gene_names_uniprotkb": "KHDRBS3; SALP; SLM2", "gene_names_refseq": "Etle; KHDRBS3; SALP; SLM-2; SLM2; T-STAR; TSTAR; etoile", "protein_names_uniprotkb": "KH domain-containing, RNA-binding, signal transduction-associated protein 3; RNA-binding protein T-Star; SLM-2; Sam68-like mammalian protein 2; Sam68-like phosphotyrosine protein", "protein_names_refseq": "KH domain containing, RNA binding, signal transduction associated 3; KH domain-containing, RNA-binding, signal transduction-associated protein 3; RNA-binding protein T-Star; Sam68-like phosphotyrosine protein, T-STAR; sam68-like mammalian protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10656); (R-HSA-8849468)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10077576;10332027;10564820;10749975;10913193;11237011;11714634;11741900;12482964;15163637;15471878;15901763;16179349;17081983;17322306;19439179;19561594;19608861;20068231;21725612;23301498;24715725;25576301;26758068;26992070;27862975;28228285;28514659;28649982;28834231;29493099;29557506;29786170;30192525;30315122;31217245;31844290;32157095;32387766;32897882;33423358;34273561;35051231;35051418;36241641;37217939", "class_list": "", "function": "(Microbial infection) Involved in post-transcriptional regulation of HIV-1 gene expression., [UniProtKB, PubMed]; KHDRBS3 promotes multi-drug resistance and anchorage-independent growth in colorectal cancer., [RefSeq, PubMed]; KHDRBS3 promotes paclitaxel resistance and induces glycolysis through modulated MIR17HG/CLDN6 signaling in epithelial ovarian cancer., [RefSeq, PubMed]; RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro. Binds optimally to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6 (PubMed:10564820, PubMed:19561594, PubMed:26758068). Involved in splice site selection of vascular endothelial growth factor (PubMed:15901763). In vitro regulates CD44 alternative splicing by direct binding to purine-rich exonic enhancer (By similarity). Can regulate alternative splicing of neurexins NRXN1-3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners such as neuroligins and LRRTM family members (PubMed:26758068). Targeted, cell-type specific splicing regulation of NRXN1 at AS4 is involved in neuronal glutamatergic synapse function and plasticity (By similarity). May regulate expression of KHDRBS2/SLIM-1 in defined brain neuron populations by modifying its alternative splicing (By similarity). Can bind FABP9 mRNA (By similarity). May play a role as a negative regulator of cell growth. Inhibits cell proliferation., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; SLM2 Is A Novel Cardiac Splicing Factor Involved in Heart Failure due to Dilated Cardiomyopathy., [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": 2, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 16, "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": "Q6NUL8;Q9UPA8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0017124 SH3 domain binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "O75525-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99732-1", "uniprot_id": [ { "id": "LITAF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99732", "type": "external" } ], "mass": 17107.0, "length": 161, "protein_name": "Lipopolysaccharide-induced tumor necrosis factor-alpha factor", "gene_name": "LITAF", "organism": "Human", "refseq_name": "lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1", "refseq_ac": [ { "id": "NP_001129944", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129944", "type": "external" } ], "gene_names_uniprotkb": "LITAF; PIG7; SIMPLE", "gene_names_refseq": "LITAF; PIG7; SIMPLE; TP53I7", "protein_names_uniprotkb": "Lipopolysaccharide-induced tumor necrosis factor-alpha factor; LPS-induced TNF-alpha factor; Small integral membrane protein of lysosome/late endosome; p53-induced gene 7 protein", "protein_names_refseq": "LPS-induced TNF-alpha factor; lipopolysaccharide-induced TNF-alpha factor; lipopolysaccharide-induced tumor necrosis factor-alpha factor isoform 1; lipopolysaccharide-induced tumor necrosis factor-alpha factor; p53-induced gene 7 protein; small integral membrane protein of lysosome/late endosome; small integral membrane protein of the late endosome; tumor protein p53 inducible protein 7", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 1C (Disease Ontology:DOID:0110151)", "pathway": " (hsa:9516)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10200294;11237011;11274176;12525712;1407588;15064722;15197774;15776429;15786462;15793005;16118794;16954198;20058876;21896645;2239969;23166352;23481700;24604904;25502872;25576301;25645385;25802875;25892735;26154972;26375851;26992070;27582497;27846572;27927196;28832583;28834231;28904123;29242379;29493099;29557506;29632711;29769354;29786170;30429286;30779550;30833945;31154438;31844290;32157095;32161166;32357974;32387766;32502341;32983136;33043033;33141586;33592498;33912179;34185709;34320238;34357683;34932366;35051231;35154160;35318648;35580925;35608774;36010968;36284347;36581221;37938771;38262261;38665916;9305847", "class_list": "", "function": "Circ_0030042 inhibits trophoblast cell growth, invasion and epithelial-mesenchymal transition process in preeclampsia via miR-942-5p/LITAF., [RefSeq, PubMed]; Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation., [RefSeq, PubMed]; Lipopolysaccharide is a potent stimulator of monocytes and macrophages, causing secretion of tumor necrosis factor-alpha (TNF-alpha) and other inflammatory mediators. This gene encodes lipopolysaccharide-induced TNF-alpha factor, which is a DNA-binding protein and can mediate the TNF-alpha expression by direct binding to the promoter region of the TNF-alpha gene. The transcription of this gene is induced by tumor suppressor p53 and has been implicated in the p53-induced apoptotic pathway. Mutations in this gene cause Charcot-Marie-Tooth disease type 1C (CMT1C) and may be involved in the carcinogenesis of extramammary Paget's disease (EMPD). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2014]., [RefSeq]; Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation (PubMed:23166352). Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps down-regulate downstream signaling cascades (PubMed:23166352). Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes (PubMed:23166352). Probably plays a role in regulating protein degradation via its interaction with NEDD4 (PubMed:15776429). May also contribute to the regulation of gene expression in the nucleus (PubMed:10200294, PubMed:15793005). Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines (PubMed:15793005). May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10 (PubMed:10200294, PubMed:15793005)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; SIMPLE Is an Endosomal Regulator That Protects Against NAFLD by Targeting the Lysosomal Degradation of EGFR., [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": 1, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 9, "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": "D3DUG1;G5E9K0;Q05DW0;Q9C0L6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0050699 WW domain binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0001817 regulation of cytokine production", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q99732-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true } ]